[{"container-title":"HP:0000002","author":[{"family":"abnormality of body height"},{"family":"Deviation from the norm of height with respect to that which is expected according to age and gender norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000002","type":"entry-dictionary","title":"Abnormality of body height"},{"container-title":"HP:0000003","author":[{"family":"multicystic kidneys"},{"family":"multicystic dysplastic kidney"},{"family":"multicystic renal dysplasia"},{"family":"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000003","type":"entry-dictionary","title":"Multicystic kidney dysplasia"},{"container-title":"HP:0000006","author":[{"family":"autosomal dominant form"},{"family":"autosomal dominant type"},{"family":"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000006","type":"entry-dictionary","title":"Autosomal dominant inheritance"},{"container-title":"HP:0000007","author":[{"family":"autosomal recessive form"},{"family":"autosomal recessive predisposition"},{"family":"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000007","type":"entry-dictionary","title":"Autosomal recessive inheritance"},{"container-title":"HP:0000008","author":[{"family":"An abnormality of the female internal genitalia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000008","type":"entry-dictionary","title":"Abnormality of female internal genitalia"},{"container-title":"HP:0000009","author":[{"family":"poor bladder function"},{"family":"Dysfunction of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000009","type":"entry-dictionary","title":"Functional abnormality of the bladder"},{"container-title":"HP:0000010","author":[{"family":"urinary infection"},{"family":"urinary tract infections, recurrent"},{"family":"frequent urinary tract infections"},{"family":"Repeated infections of the urinary tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000010","type":"entry-dictionary","title":"Recurrent urinary tract infections"},{"container-title":"HP:0000011","author":[{"family":"An inability to completely empty the urinary bladder during the process of urination owing to a neurological condition."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000011","type":"entry-dictionary","title":"Neurogenic bladder"},{"container-title":"HP:0000012","author":[{"family":"urgency frequency syndrome"},{"family":"urinary urgency"},{"family":"overactive bladder syndrome"},{"family":"Urge incontinence is the strong, sudden need to urinate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000012","type":"entry-dictionary","title":"Urinary urgency"},{"container-title":"HP:0000013","author":[{"family":"hypoplastic uterus"},{"family":"underdeveloped uterus"},{"family":"small uterus"},{"family":"rudimentary uterus"},{"family":"Underdevelopment of the uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000013","type":"entry-dictionary","title":"Hypoplasia of the uterus"},{"container-title":"HP:0000014","author":[{"family":"An abnormality of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000014","type":"entry-dictionary","title":"Abnormality of the bladder"},{"container-title":"HP:0000015","author":[{"family":"bladder diverticula"},{"family":"Diverticulum (sac or pouch) in the wall of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000015","type":"entry-dictionary","title":"Bladder diverticulum"},{"container-title":"HP:0000016","author":[{"family":"increased post-void residual urine volume"},{"family":"Inability to completely empty the urinary bladder during the process of urination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000016","type":"entry-dictionary","title":"Urinary retention"},{"container-title":"HP:0000017","author":[{"family":"nycturia"},{"family":"Abnormally increased production of urine during the night leading to an unusually frequent need to urinate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000017","type":"entry-dictionary","title":"Nocturia"},{"container-title":"HP:0000019","author":[{"family":"difficulty with flow"},{"family":"Difficulty in beginning the process of urination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000019","type":"entry-dictionary","title":"Urinary hesitancy"},{"container-title":"HP:0000020","author":[{"family":"bladder incontinence"},{"family":"loss of bladder control"},{"family":"Loss of the ability to control the urinary bladder leading to involuntary urination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000020","type":"entry-dictionary","title":"Urinary incontinence"},{"container-title":"HP:0000021","author":[{"family":"Dilatation of the bladder postnatally."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000021","type":"entry-dictionary","title":"Megacystis"},{"container-title":"HP:0000022","author":[{"family":"An abnormality of the male internal genitalia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000022","type":"entry-dictionary","title":"Abnormality of male internal genitalia"},{"container-title":"HP:0000023","author":[{"family":"Protrusion of the contents of the abdominal cavity through the inguinal canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000023","type":"entry-dictionary","title":"Inguinal hernia"},{"container-title":"HP:0000024","author":[{"family":"inflammation of the prostate"},{"family":"The presence of inflammation of the prostate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000024","type":"entry-dictionary","title":"Prostatitis"},{"container-title":"HP:0000025","author":[{"family":"Functional abnormality of male internal genitalia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000025","type":"entry-dictionary","title":"Functional abnormality of male internal genitalia"},{"container-title":"HP:0000026","author":[{"family":"decreased function of male gonad"},{"family":"Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000026","type":"entry-dictionary","title":"Male hypogonadism"},{"container-title":"HP:0000027","author":[{"family":"absent sperm in semen"},{"family":"Absence of any measurable level of sperm in his semen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000027","type":"entry-dictionary","title":"Azoospermia"},{"container-title":"HP:0000028","author":[{"family":"undescended testes"},{"family":"cryptorchism"},{"family":"undescended testis"},{"family":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000028","type":"entry-dictionary","title":"Cryptorchidism"},{"container-title":"HP:0000029","author":[{"family":"testicular degeneration"},{"family":"Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000029","type":"entry-dictionary","title":"Testicular atrophy"},{"container-title":"HP:0000030","author":[{"family":"gonadoblastoma, male"},{"family":"The presence of a gonadoblastoma of the testis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000030","type":"entry-dictionary","title":"Testicular gonadoblastoma"},{"container-title":"HP:0000031","author":[{"family":"The presence of inflammation of the epididymis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000031","type":"entry-dictionary","title":"Epididymitis"},{"container-title":"HP:0000032","author":[{"family":"An abnormality of male external genitalia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000032","type":"entry-dictionary","title":"Abnormality of male external genitalia"},{"container-title":"HP:0000033","author":[{"family":"ambiguous genitalia in males"},{"family":"Ambiguous genitalia in an individual with XY genetic gender."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000033","type":"entry-dictionary","title":"Ambiguous genitalia, male"},{"container-title":"HP:0000034","author":[{"family":"testicular hydrocele"},{"family":"Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000034","type":"entry-dictionary","title":"Hydrocele testis"},{"container-title":"HP:0000035","author":[{"family":"anomaly of the testes"},{"family":"abnormality of the testis"},{"family":"An anomaly of the testicle (the male gonad)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000035","type":"entry-dictionary","title":"Abnormality of the testis"},{"container-title":"HP:0000036","author":[{"family":"abnormality of the penis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000036","type":"entry-dictionary","title":"Abnormality of the penis"},{"container-title":"HP:0000037","author":[{"family":"Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000037","type":"entry-dictionary","title":"Male pseudohermaphroditism"},{"container-title":"HP:0000039","author":[{"family":"Displacement of the urethral opening on the dorsal (superior) surface of the penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000039","type":"entry-dictionary","title":"Epispadias"},{"container-title":"HP:0000040","author":[{"family":"long penis"},{"family":"enlarged penis"},{"family":"Penile length more than 2 SD above the mean for age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000040","type":"entry-dictionary","title":"Long penis"},{"container-title":"HP:0000041","author":[{"family":"Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000041","type":"entry-dictionary","title":"Chordee"},{"container-title":"HP:0000042","author":[{"family":"absent external genitalia"},{"family":"Lack of external genitalia in a male or female individual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000042","type":"entry-dictionary","title":"Absent external genitalia"},{"container-title":"HP:0000044","author":[{"family":"low gonadotropins (secondary hypogonadism)"},{"family":"hypogonadism, hypogonadotropic"},{"family":"isolated hypogonadotropic hypogonadism"},{"family":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000044","type":"entry-dictionary","title":"Hypogonadotrophic hypogonadism"},{"container-title":"HP:0000045","author":[{"family":"Abnormality of the scrotum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000045","type":"entry-dictionary","title":"Abnormality of the scrotum"},{"container-title":"HP:0000046","author":[{"family":"hypoplastic scrotum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000046","type":"entry-dictionary","title":"Scrotal hypoplasia"},{"container-title":"HP:0000047","author":[{"family":"hypospadia"},{"family":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000047","type":"entry-dictionary","title":"Hypospadias"},{"container-title":"HP:0000048","author":[{"family":"cleft of scrotum"},{"family":"scrotal cleft"},{"family":"Midline indentation or cleft of the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000048","type":"entry-dictionary","title":"Bifid scrotum"},{"container-title":"HP:0000049","author":[{"family":"overriding scrotum"},{"family":"Superior margin of the scrotum superior to the base of the penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000049","type":"entry-dictionary","title":"Shawl scrotum"},{"container-title":"HP:0000050","author":[{"family":"hypoplastic male genitalia"},{"family":"small male external genitalia"},{"family":"underdeveloped male genitalia"},{"family":"Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000050","type":"entry-dictionary","title":"Hypoplastic male external genitalia"},{"container-title":"HP:0000051","author":[{"family":"Hypospadias with location of the urethral meatus in the perineal region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000051","type":"entry-dictionary","title":"Perineal hypospadias"},{"container-title":"HP:0000052","author":[{"family":"Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000052","type":"entry-dictionary","title":"Urethral atresia, male"},{"container-title":"HP:0000053","author":[{"family":"large testicles"},{"family":"large testis"},{"family":"The presence of abnormally large testes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000053","type":"entry-dictionary","title":"Macroorchidism"},{"container-title":"HP:0000054","author":[{"family":"short penis"},{"family":"small penis"},{"family":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000054","type":"entry-dictionary","title":"Micropenis"},{"container-title":"HP:0000055","author":[{"family":"abnormal female external genitalia"},{"family":"An abnormality of the female external genitalia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000055","type":"entry-dictionary","title":"Abnormality of female external genitalia"},{"container-title":"HP:0000056","author":[{"family":"abnormality of the clit"},{"family":"An abnormality of the clitoris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000056","type":"entry-dictionary","title":"Abnormality of the clitoris"},{"container-title":"HP:0000058","author":[{"family":"An anomaly of the labia, the externally visible portions of the vulva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000058","type":"entry-dictionary","title":"Abnormality of the labia"},{"container-title":"HP:0000059","author":[{"family":"small labia majora"},{"family":"underdeveloped vaginal lips"},{"family":"hypoplasia of labia majora"},{"family":"Undergrowth of the outer labia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000059","type":"entry-dictionary","title":"Hypoplastic labia majora"},{"container-title":"HP:0000060","author":[{"family":"underdeveloped clit"},{"family":"hypoplastic clitoris"},{"family":"small clitoris"},{"family":"Developmental hypoplasia of the clitoris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000060","type":"entry-dictionary","title":"Clitoral hypoplasia"},{"container-title":"HP:0000061","author":[{"family":"ambiguous genitalia due to virilization"},{"family":"Ambiguous genitalia in an individual with XX genetic gender."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000061","type":"entry-dictionary","title":"Ambiguous genitalia, female"},{"container-title":"HP:0000062","author":[{"family":"intersex genitalia"},{"family":"ambiguous external genitalia at birth"},{"family":"A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000062","type":"entry-dictionary","title":"Ambiguous genitalia"},{"container-title":"HP:0000063","author":[{"family":"fused inner lips"},{"family":"Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000063","type":"entry-dictionary","title":"Fused labia minora"},{"container-title":"HP:0000064","author":[{"family":"underdeveloped inner lips"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000064","type":"entry-dictionary","title":"Hypoplastic labia minora"},{"container-title":"HP:0000065","author":[{"family":"enlargement of the vaginal lips"},{"family":"enlargement of the labia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000065","type":"entry-dictionary","title":"Labial hypertrophy"},{"container-title":"HP:0000066","author":[{"family":"underdeveloped labia"},{"family":"hypoplastic labia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000066","type":"entry-dictionary","title":"Labial hypoplasia"},{"container-title":"HP:0000067","author":[{"family":"Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000067","type":"entry-dictionary","title":"Urethral atresia, female"},{"container-title":"HP:0000068","author":[{"family":"Congenital anomaly characterized by closure or failure to develop an opening in the urethra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000068","type":"entry-dictionary","title":"Urethral atresia"},{"container-title":"HP:0000069","author":[{"family":"abnormality of the ureters"},{"family":"ureter issue"},{"family":"ureteral anomalies"},{"family":"An abnormality of the ureter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000069","type":"entry-dictionary","title":"Abnormality of the ureter"},{"container-title":"HP:0000070","author":[{"family":"A ureterocele is a congenital saccular dilatation of the distal segment of the ureter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000070","type":"entry-dictionary","title":"Ureterocele"},{"container-title":"HP:0000071","author":[{"family":"narrowing of the ureter"},{"family":"The presence of a stenotic, i.e., constricted ureter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000071","type":"entry-dictionary","title":"Ureteral stenosis"},{"container-title":"HP:0000072","author":[{"family":"ureteral dilatation"},{"family":"uroureter"},{"family":"megaureter"},{"family":"The distention of the ureter with urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000072","type":"entry-dictionary","title":"Hydroureter"},{"container-title":"HP:0000073","author":[{"family":"double ureter"},{"family":"A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000073","type":"entry-dictionary","title":"Ureteral duplication"},{"container-title":"HP:0000074","author":[{"family":"pelviureteric junction obstruction"},{"family":"Blockage of urine flow from the renal pelvis to the proximal ureter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000074","type":"entry-dictionary","title":"Ureteropelvic junction obstruction"},{"container-title":"HP:0000075","author":[{"family":"supernumerary kidney"},{"family":"extra kidney"},{"family":"A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000075","type":"entry-dictionary","title":"Renal duplication"},{"container-title":"HP:0000076","author":[{"family":"vesicoureteric reflux"},{"family":"ureteral reflux"},{"family":"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000076","type":"entry-dictionary","title":"Vesicoureteral reflux"},{"container-title":"HP:0000077","author":[{"family":"renal anomaly"},{"family":"abnormal kidney"},{"family":"abnormality of the kidney"},{"family":"kidney disease"},{"family":"renal anomalies"},{"family":"An abnormality of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000077","type":"entry-dictionary","title":"Abnormality of the kidney"},{"container-title":"HP:0000078","author":[{"family":"genital abnormalities"},{"family":"abnormality of the reproductive system"},{"family":"genital abnormality"},{"family":"genital defects"},{"family":"genital anomalies"},{"family":"An abnormality of the genital system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000078","type":"entry-dictionary","title":"Abnormality of the genital system"},{"container-title":"HP:0000079","author":[{"family":"urinary tract anomalies"},{"family":"urinary tract abnormality"},{"family":"urinary tract abnormalities"},{"family":"An abnormality of the urinary system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000079","type":"entry-dictionary","title":"Abnormality of the urinary system"},{"container-title":"HP:0000080","author":[{"family":"genital functional abnormality"},{"family":"abnormality of reproductive system physiology"},{"family":"abnormality of genital physiology"},{"family":"An abnormal functionality of the genital system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000080","type":"entry-dictionary","title":"Abnormality of reproductive system physiology"},{"container-title":"HP:0000081","author":[{"family":"double urinary collecting systems on intravenous pyelography"},{"family":"duplicated renal collecting system"},{"family":"double collecting system"},{"family":"duplex collecting system"},{"family":"A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000081","type":"entry-dictionary","title":"Duplicated collecting system"},{"container-title":"HP:0000083","author":[{"family":"renal failure in adulthood"},{"family":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000083","type":"entry-dictionary","title":"Renal insufficiency"},{"container-title":"HP:0000085","author":[{"family":"fused kidneys"},{"family":"horseshoe kidneys"},{"family":"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000085","type":"entry-dictionary","title":"Horseshoe kidney"},{"container-title":"HP:0000086","author":[{"family":"abnormal kidney location"},{"family":"displaced kidney"},{"family":"ectopic kidneys"},{"family":"renal ectopia"},{"family":"A developmental defect in which a kidney is located in an abnormal anatomic position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000086","type":"entry-dictionary","title":"Ectopic kidney"},{"container-title":"HP:0000089","author":[{"family":"hypoplastic kidneys"},{"family":"underdeveloped kidneys"},{"family":"small kidneys"},{"family":"Hypoplasia of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000089","type":"entry-dictionary","title":"Renal hypoplasia"},{"container-title":"HP:0000090","author":[{"family":"juvenile nephronophthisis"},{"family":"Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000090","type":"entry-dictionary","title":"Nephronophthisis"},{"container-title":"HP:0000091","author":[{"family":"An abnormality of the renal tubules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000091","type":"entry-dictionary","title":"Abnormality of the renal tubule"},{"container-title":"HP:0000092","author":[{"family":"renal tubular cell atrophy"},{"family":"The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000092","type":"entry-dictionary","title":"Tubular atrophy"},{"container-title":"HP:0000093","author":[{"family":"high urine protein levels"},{"family":"protein in urine"},{"family":"Increased levels of protein in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000093","type":"entry-dictionary","title":"Proteinuria"},{"container-title":"HP:0000095","author":[{"family":"A structural anomaly of the glomerulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000095","type":"entry-dictionary","title":"Abnormality of renal glomerulus morphology"},{"container-title":"HP:0000096","author":[{"family":"renal glomerular fibrosis"},{"family":"Accumulation of scar tissue within the glomerulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000096","type":"entry-dictionary","title":"Glomerulosclerosis"},{"container-title":"HP:0000097","author":[{"family":"focal glomerulosclerosis"},{"family":"focal and segmental glomerular sclerosis"},{"family":"focal and segmental glomerulosclerosis"},{"family":"Segmental accumulation of scar tissue in individual (but not all) glomeruli."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000097","type":"entry-dictionary","title":"Focal segmental glomerulosclerosis"},{"container-title":"HP:0000098","author":[{"family":"tall stature"},{"family":"accelerated linear growth"},{"family":"increased body height"},{"family":"increased linear growth"},{"family":"A height above that which is expected according to age and gender norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000098","type":"entry-dictionary","title":"Tall stature"},{"container-title":"HP:0000099","author":[{"family":"glomerular nephritis"},{"family":"Inflammation of the renal glomeruli."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000099","type":"entry-dictionary","title":"Glomerulonephritis"},{"container-title":"HP:0000100","author":[{"family":"nephrosis"},{"family":"Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000100","type":"entry-dictionary","title":"Nephrotic syndrome"},{"container-title":"HP:0000103","author":[{"family":"increased urine output"},{"family":"An increased rate of urine production."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000103","type":"entry-dictionary","title":"Polyuria"},{"container-title":"HP:0000104","author":[{"family":"absent kidney"},{"family":"renal aplasia"},{"family":"missing kidney"},{"family":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000104","type":"entry-dictionary","title":"Renal agenesis"},{"container-title":"HP:0000105","author":[{"family":"renal enlargement"},{"family":"enlarged kidney"},{"family":"nephromegaly"},{"family":"large 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kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000110","type":"entry-dictionary","title":"Renal dysplasia"},{"container-title":"HP:0000111","author":[{"family":"Increased number and size of the juxtaglomerular cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000111","type":"entry-dictionary","title":"Renal juxtaglomerular cell hypertrophy\/hyperplasia"},{"container-title":"HP:0000112","author":[{"family":"kidney damage"},{"family":"A nonspecific term referring to disease or damage of the kidneys."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000112","type":"entry-dictionary","title":"Nephropathy"},{"container-title":"HP:0000113","author":[{"family":"polycystic kidney disease"},{"family":"enlarged polycystic kidneys"},{"family":"The presence of multiple cysts in both kidneys."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000113","type":"entry-dictionary","title":"Polycystic kidney dysplasia"},{"container-title":"HP:0000114","author":[{"family":"proximal renal tubulopathy"},{"family":"proximal renal tubule defect"},{"family":"selective proximal tubular damage"},{"family":"proximal tubular defect"},{"family":"proximal tubule dysfunction"},{"family":"Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000114","type":"entry-dictionary","title":"Proximal tubulopathy"},{"container-title":"HP:0000117","author":[{"family":"tubular phosphate reabsorption low"},{"family":"decreased renal tubular phosphate reabsorption"},{"family":"decreased tubular maximum for phosphate reabsorption per glomerular filtration rate"},{"family":"High urine phosphate in the presence of hypophosphatemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000117","type":"entry-dictionary","title":"Renal phosphate wasting"},{"container-title":"HP:0000119","author":[{"family":"genitourinary abnormality"},{"family":"genitourinary tract malformation"},{"family":"genitourinary dysplasia"},{"family":"genitourinary tract anomalies"},{"family":"urogenital anomalies"},{"family":"urogenital abnormalities"},{"family":"genitourinary disease"},{"family":"The presence of any abnormality of the genitourinary system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000119","type":"entry-dictionary","title":"Abnormality of the genitourinary system"},{"container-title":"HP:0000121","author":[{"family":"increased calcium level in kidney"},{"family":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000121","type":"entry-dictionary","title":"Nephrocalcinosis"},{"container-title":"HP:0000122","author":[{"family":"missing one kidney"},{"family":"single kidney"},{"family":"absent kidney on one side"},{"family":"unilateral kidney agenesis"},{"family":"A unilateral form of agenesis of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000122","type":"entry-dictionary","title":"Unilateral renal agenesis"},{"container-title":"HP:0000123","author":[{"family":"kidney inflammation"},{"family":"The presence of inflammation affecting the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000123","type":"entry-dictionary","title":"Nephritis"},{"container-title":"HP:0000124","author":[{"family":"renal tubular defect"},{"family":"renal tubular disease"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000124","type":"entry-dictionary","title":"Renal tubular dysfunction"},{"container-title":"HP:0000125","author":[{"family":"sacral kidney"},{"family":"A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000125","type":"entry-dictionary","title":"Pelvic kidney"},{"container-title":"HP:0000126","author":[{"family":"Severe distention of the kidney with dilation of the renal pelvis and calices."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000126","type":"entry-dictionary","title":"Hydronephrosis"},{"container-title":"HP:0000127","author":[{"family":"salt wasting"},{"family":"renal salt-wasting"},{"family":"A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000127","type":"entry-dictionary","title":"Renal salt wasting"},{"container-title":"HP:0000128","author":[{"family":"High urine potassium in the presence of hypokalemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000128","type":"entry-dictionary","title":"Renal potassium wasting"},{"container-title":"HP:0000130","author":[{"family":"uterine malformations"},{"family":"abnormality of the uterus"},{"family":"uterine abnormalities"},{"family":"An abnormality of the uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000130","type":"entry-dictionary","title":"Abnormality of 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of the ovary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000134","type":"entry-dictionary","title":"Female hypogonadism"},{"container-title":"HP:0000135","author":[{"family":"decreased activity of gonads"},{"family":"A decreased functionality of the gonad."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000135","type":"entry-dictionary","title":"Hypogonadism"},{"container-title":"HP:0000136","author":[{"family":"The presence of a bifid uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000136","type":"entry-dictionary","title":"Bifid uterus"},{"container-title":"HP:0000137","author":[{"family":"abnormality of the ovary"},{"family":"ovarian disease"},{"family":"abnormality of the ovaries"},{"family":"An abnormality of the ovary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000137","type":"entry-dictionary","title":"Abnormality of the ovary"},{"container-title":"HP:0000138","author":[{"family":"ovarian cystic abnormality"},{"family":"cystic abnormalities of the ovaries"},{"family":"cystic ovaries"},{"family":"The presence of one or more cysts of the ovary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000138","type":"entry-dictionary","title":"Ovarian cyst"},{"container-title":"HP:0000139","author":[{"family":"sagging uterus"},{"family":"The presence of prolapse of the uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000139","type":"entry-dictionary","title":"Uterine prolapse"},{"container-title":"HP:0000140","author":[{"family":"abnormality of the menstrual cycle"},{"family":"menstrual abnormalities"},{"family":"An abnormality of the ovulation cycle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000140","type":"entry-dictionary","title":"Abnormality of the menstrual cycle"},{"container-title":"HP:0000141","author":[{"family":"abnormal absence of menstruation"},{"family":"Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000141","type":"entry-dictionary","title":"Amenorrhea"},{"container-title":"HP:0000142","author":[{"family":"vaginal malformation"},{"family":"An abnormality of the vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000142","type":"entry-dictionary","title":"Abnormality of the vagina"},{"container-title":"HP:0000143","author":[{"family":"The presence of a fistula between the vagina and the rectum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000143","type":"entry-dictionary","title":"Rectovaginal fistula"},{"container-title":"HP:0000144","author":[{"family":"abnormal fertility"},{"family":"decreased fertility"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000144","type":"entry-dictionary","title":"Decreased fertility"},{"container-title":"HP:0000145","author":[{"family":"transverse vaginal membrane"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000145","type":"entry-dictionary","title":"Transverse vaginal septum"},{"container-title":"HP:0000147","author":[{"family":"polycystic ovary disease"},{"family":"sclerocystic ovaries"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000147","type":"entry-dictionary","title":"Polycystic ovaries"},{"container-title":"HP:0000148","author":[{"family":"Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000148","type":"entry-dictionary","title":"Vaginal atresia"},{"container-title":"HP:0000149","author":[{"family":"gonadoblastoma, female"},{"family":"The presence of a gonadoblastoma of the ovary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000149","type":"entry-dictionary","title":"Ovarian gonadoblastoma"},{"container-title":"HP:0000150","author":[{"family":"The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000150","type":"entry-dictionary","title":"Gonadoblastoma"},{"container-title":"HP:0000151","author":[{"family":"uterus absent"},{"family":"absent uterus"},{"family":"Aplasia of the uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000151","type":"entry-dictionary","title":"Aplasia of the uterus"},{"container-title":"HP:0000152","author":[{"family":"head and neck abnormality"},{"family":"abnormality of head or neck"},{"family":"An abnormality of head and neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000152","type":"entry-dictionary","title":"Abnormality of head or neck"},{"container-title":"HP:0000153","author":[{"family":"abnormal mouth"},{"family":"abnormality of the mouth"},{"family":"An abnormality of the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000153","type":"entry-dictionary","title":"Abnormality of the mouth"},{"container-title":"HP:0000154","author":[{"family":"broad mouth"},{"family":"large mouth"},{"family":"wide mouth"},{"family":"large oral aperture"},{"family":"macrostomia"},{"family":"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000154","type":"entry-dictionary","title":"Wide mouth"},{"container-title":"HP:0000155","author":[{"family":"mouth sore"},{"family":"mouth ulcer"},{"family":"Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000155","type":"entry-dictionary","title":"Oral ulcer"},{"container-title":"HP:0000157","author":[{"family":"glossal abnormality"},{"family":"lingual abnormality"},{"family":"tongue abnormality"},{"family":"abnormality of the tongue"},{"family":"abnormal tongue"},{"family":"Any abnormality of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000157","type":"entry-dictionary","title":"Abnormality of the tongue"},{"container-title":"HP:0000158","author":[{"family":"hypertrophy of the tongue"},{"family":"lingual hyperplasia"},{"family":"tongue hypertrophy"},{"family":"glossal hypertrophy"},{"family":"abnormally large tongue"},{"family":"hyperplasia of the tongue"},{"family":"lingual hypertrophy"},{"family":"increased size of tongue"},{"family":"Increased length and width of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000158","type":"entry-dictionary","title":"Macroglossia"},{"container-title":"HP:0000159","author":[{"family":"abnormality of the lip"},{"family":"deformity of lip"},{"family":"lip abnormality"},{"family":"malformation of lip"},{"family":"abnormal lip"},{"family":"anomaly of lip"},{"family":"An abnormality of the lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000159","type":"entry-dictionary","title":"Abnormality of the lip"},{"container-title":"HP:0000160","author":[{"family":"small mouth"},{"family":"narrow mouth"},{"family":"small oral aperture"},{"family":"microstomia"},{"family":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000160","type":"entry-dictionary","title":"Narrow mouth"},{"container-title":"HP:0000161","author":[{"family":"central cleft upper lip"},{"family":"midline cleft lip"},{"family":"A type of cleft lip presenting as a midline (median) gap in the upper lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000161","type":"entry-dictionary","title":"Median cleft lip"},{"container-title":"HP:0000162","author":[{"family":"lingual retraction"},{"family":"retraction of the tongue"},{"family":"posterior displacement of the tongue"},{"family":"Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000162","type":"entry-dictionary","title":"Glossoptosis"},{"container-title":"HP:0000163","author":[{"family":"abnormality of the oral cavity"},{"family":"Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000163","type":"entry-dictionary","title":"Abnormality of the oral cavity"},{"container-title":"HP:0000164","author":[{"family":"dental abnormality"},{"family":"abnormal teeth"},{"family":"abnormality of the teeth"},{"family":"tooth abnormalities"},{"family":"abnormal dentition"},{"family":"dental abnormalities"},{"family":"dental problems"},{"family":"dental anomalies"},{"family":"Any abnormality of the teeth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000164","type":"entry-dictionary","title":"Abnormality of the dentition"},{"container-title":"HP:0000166","author":[{"family":"severe periodontal disease"},{"family":"severe pyorrhea"},{"family":"severe gum disease"},{"family":"A severe form of periodontitis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000166","type":"entry-dictionary","title":"Severe periodontitis"},{"container-title":"HP:0000168","author":[{"family":"gingival abnormality"},{"family":"abnormality of the gums"},{"family":"Any abnormality of the gingiva (also known as gums)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000168","type":"entry-dictionary","title":"Abnormality of the gingiva"},{"container-title":"HP:0000169","author":[{"family":"gingival fibrous nodules"},{"family":"idiopathic gingival hyperplasia"},{"family":"hereditary gingival fibromatosis"},{"family":"The presence of fibrosis of the gingiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000169","type":"entry-dictionary","title":"Gingival fibromatosis"},{"container-title":"HP:0000171","author":[{"family":"hypoglossia"},{"family":"decreased size of tongue"},{"family":"hypoplastic tongue"},{"family":"lingual hypoplasia"},{"family":"underdevelopment of the tongue"},{"family":"abnormally small tongue"},{"family":"hypoplasia of the tongue"},{"family":"rudimentary tongue"},{"family":"Decreased length and width of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000171","type":"entry-dictionary","title":"Microglossia"},{"container-title":"HP:0000172","author":[{"family":"abnormality of the uvula"},{"family":"abnormality of palatine uvula"},{"family":"Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000172","type":"entry-dictionary","title":"Abnormality of the uvula"},{"container-title":"HP:0000174","author":[{"family":"abnormality of the roof of the mouth"},{"family":"abnormality of the palate"},{"family":"palate abnormality"},{"family":"Any abnormality of the palate, i.e., of roof of the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000174","type":"entry-dictionary","title":"Abnormality of the palate"},{"container-title":"HP:0000175","author":[{"family":"cleft of hard and soft palate"},{"family":"palatoschisis"},{"family":"cleft hard and soft palate"},{"family":"cleft palate"},{"family":"uranostaphyloschisis"},{"family":"cleft of palate"},{"family":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000175","type":"entry-dictionary","title":"Cleft palate"},{"container-title":"HP:0000176","author":[{"family":"submucous clefting"},{"family":"partial thickness cleft hard palate"},{"family":"submucosal cleft palate"},{"family":"Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000176","type":"entry-dictionary","title":"Submucous cleft hard palate"},{"container-title":"HP:0000177","author":[{"family":"abnormality of upper lip"},{"family":"malformation of the upper lip"},{"family":"deformity of the upper lip"},{"family":"anomaly of the upper lip"},{"family":"An abnormality of the upper lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000177","type":"entry-dictionary","title":"Abnormality of upper lip"},{"container-title":"HP:0000178","author":[{"family":"deformity of the lower lip"},{"family":"malformation of the lower lip"},{"family":"anomaly of the lower lip"},{"family":"abnormality of lower lip"},{"family":"An abnormality of the lower lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000178","type":"entry-dictionary","title":"Abnormality of lower lip"},{"container-title":"HP:0000179","author":[{"family":"full lower lip vermilion"},{"family":"thick lower lip"},{"family":"thick red part of the lower lip"},{"family":"plump lower lip"},{"family":"increased height of lower lip vermilion"},{"family":"thick vermilion border of lower lip"},{"family":"increased volume of lower lip vermilion"},{"family":"prominent lower lip vermilion"},{"family":"Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000179","type":"entry-dictionary","title":"Thick lower lip vermilion"},{"container-title":"HP:0000180","author":[{"family":"bumpy tongue"},{"family":"lingual lobules"},{"family":"lobulate tongue"},{"family":"Multiple indentations and\/or elevations on the edge and\/or surface of the tongue producing an irregular surface contour."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000180","type":"entry-dictionary","title":"Lobulated tongue"},{"container-title":"HP:0000182","author":[{"family":"abnormality of lingual movement"},{"family":"movement abnormality of the tongue"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000182","type":"entry-dictionary","title":"Movement abnormality of the tongue"},{"container-title":"HP:0000183","author":[{"family":"hypokinesia of the tongue"},{"family":"difficulty in lingual movements"},{"family":"lingual hypokinesia"},{"family":"difficulty in tongue movements"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000183","type":"entry-dictionary","title":"Difficulty in tongue movements"},{"container-title":"HP:0000185","author":[{"family":"cleft muscular palate"},{"family":"cleft of soft palate"},{"family":"cleft velum"},{"family":"Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000185","type":"entry-dictionary","title":"Cleft soft palate"},{"container-title":"HP:0000187","author":[{"family":"widened alveolar ridges"},{"family":"wide alveolar processes of jaw"},{"family":"wide alveolar margins"},{"family":"broad alveolar margins"},{"family":"broad alveolar processes of jaw"},{"family":"wide gum ridges"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000187","type":"entry-dictionary","title":"Broad alveolar ridges"},{"container-title":"HP:0000188","author":[{"family":"short upper lip"},{"family":"vertical deficiency of upper lip"},{"family":"decreased height of upper lip"},{"family":"decreased upper labial height"},{"family":"decreased upper labial length"},{"family":"decreased vertical length of upper lip"},{"family":"shortening of upper lip"},{"family":"Decreased width of the upper lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000188","type":"entry-dictionary","title":"Short upper lip"},{"container-title":"HP:0000189","author":[{"family":"decreased palatal width"},{"family":"decreased transverse dimension of palate"},{"family":"narrow roof of mouth"},{"family":"narrow palate"},{"family":"Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000189","type":"entry-dictionary","title":"Narrow palate"},{"container-title":"HP:0000190","author":[{"family":"abnormality of oral frenula"},{"family":"abnormality of oral frenum"},{"family":"An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000190","type":"entry-dictionary","title":"Abnormal oral frenulum morphology"},{"container-title":"HP:0000191","author":[{"family":"accessory oral frenum"},{"family":"multiple oral frenula"},{"family":"supernumerary oral frenulum"},{"family":"supernumerary oral frenum"},{"family":"extra oral frenum"},{"family":"extra oral frenulum"},{"family":"Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000191","type":"entry-dictionary","title":"Accessory oral frenulum"},{"container-title":"HP:0000193","author":[{"family":"forked uvula"},{"family":"bifid palatine uvula"},{"family":"uvula bifida"},{"family":"cleft uvula"},{"family":"split uvula"},{"family":"Uvula separated into two parts most easily seen at the tip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000193","type":"entry-dictionary","title":"Bifid uvula"},{"container-title":"HP:0000194","author":[{"family":"open mouth appearance"},{"family":"gaped jawed appearance"},{"family":"gaped mouthed appearance"},{"family":"slack jawed appearance"},{"family":"A facial appearance characterized by a permanently or nearly permanently opened mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000194","type":"entry-dictionary","title":"Open mouth"},{"container-title":"HP:0000196","author":[{"family":"Depression located on the vermilion of the lower lip, usually paramedian."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000196","type":"entry-dictionary","title":"Lower lip pit"},{"container-title":"HP:0000197","author":[{"family":"anomaly of the parotid gland"},{"family":"Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000197","type":"entry-dictionary","title":"Abnormality of parotid gland"},{"container-title":"HP:0000198","author":[{"family":"agenesis of stensen duct"},{"family":"missing parotid duct"},{"family":"failure of development of stensen duct"},{"family":"missing stensen duct"},{"family":"absent stensen duct"},{"family":"absence of parotid duct"},{"family":"agenesis of parotid duct"},{"family":"failure of development of parotid duct"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000198","type":"entry-dictionary","title":"Absence of Stensen duct"},{"container-title":"HP:0000199","author":[{"family":"lingual nodules"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000199","type":"entry-dictionary","title":"Tongue nodules"},{"container-title":"HP:0000200","author":[{"family":"short lingual frenum"},{"family":"deficiency of lingual frenulum"},{"family":"tight lingual frenulum"},{"family":"hypoplasia of tongue frenulum"},{"family":"short tongue frenum"},{"family":"short tongue frenulum"},{"family":"hypoplasia of lingual frenum"},{"family":"hypoplasia of lingual frenulum"},{"family":"hypoplasia of tongue frenum"},{"family":"The presence of an abnormally short lingual frenulum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000200","type":"entry-dictionary","title":"Short lingual frenulum"},{"container-title":"HP:0000201","author":[{"family":"pierre-robin deformity"},{"family":"pierre-robin malformation"},{"family":"pierre robin sequence"},{"family":"pierre-robin anomaly"},{"family":"Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000201","type":"entry-dictionary","title":"Pierre-Robin sequence"},{"container-title":"HP:0000202","author":[{"family":"cleft lip, cleft palate"},{"family":"oral clefting"},{"family":"cleft of the mouth"},{"family":"cleft lip\/palate"},{"family":"The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000202","type":"entry-dictionary","title":"Oral cleft"},{"container-title":"HP:0000204","author":[{"family":"harelip"},{"family":"cleft of upper lip"},{"family":"cleft upper lip"},{"family":"cheiloschisis of upper lip"},{"family":"A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000204","type":"entry-dictionary","title":"Cleft upper lip"},{"container-title":"HP:0000205","author":[{"family":"pursed lips"},{"family":"tightly closed lips"},{"family":"An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000205","type":"entry-dictionary","title":"Pursed lips"},{"container-title":"HP:0000206","author":[{"family":"inflammation of the tongue"},{"family":"smooth swollen tongue"},{"family":"lingual inflammation"},{"family":"Inflammation of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000206","type":"entry-dictionary","title":"Glossitis"},{"container-title":"HP:0000207","author":[{"family":"triangular shaped oral aperture"},{"family":"triangular shaped mouth"},{"family":"triangular mouth"},{"family":"The presence of a triangular form of the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000207","type":"entry-dictionary","title":"Triangular mouth"},{"container-title":"HP:0000211","author":[{"family":"limited mandibular mobility"},{"family":"decrease in mandibular mobility"},{"family":"decrease in mandibular movement"},{"family":"pain of muscles of mastication"},{"family":"limited jaw opening"},{"family":"limited jaw movement"},{"family":"limited mandibular opening"},{"family":"decrease in mandibular opening"},{"family":"decrease in jaw movement"},{"family":"decrease in jaw opening"},{"family":"decrease in jaw mobility"},{"family":"limited mouth opening"},{"family":"limited jaw mobility"},{"family":"Limitation in the ability to open the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000211","type":"entry-dictionary","title":"Trismus"},{"container-title":"HP:0000212","author":[{"family":"oral soft tissue hyperplasia"},{"family":"gingival hypertrophy"},{"family":"gum enlargement"},{"family":"gum hypertrophy"},{"family":"gingival hyperplasia"},{"family":"gingival enlargement"},{"family":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000212","type":"entry-dictionary","title":"Gingival overgrowth"},{"container-title":"HP:0000214","author":[{"family":"labial telangiectasia"},{"family":"lip telangiectases"},{"family":"angioectasias of the lip"},{"family":"telangiectasia of the lips"},{"family":"labial angioectasias"},{"family":"spider veins of the lip"},{"family":"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000214","type":"entry-dictionary","title":"Lip telangiectasia"},{"container-title":"HP:0000215","author":[{"family":"increased height of upper lip vermilion"},{"family":"thick vermilion border of upper lip"},{"family":"prominent upper lip vermilion"},{"family":"increased volume of upper lip vermilion"},{"family":"plump upper lip"},{"family":"thick red part of the upper lip"},{"family":"full upper lip vermilion"},{"family":"thick upper lip"},{"family":"Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000215","type":"entry-dictionary","title":"Thick upper lip vermilion"},{"container-title":"HP:0000216","author":[{"family":"secondary alveolar ridges"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000216","type":"entry-dictionary","title":"Broad secondary alveolar ridge"},{"container-title":"HP:0000217","author":[{"family":"dry mouth syndrome"},{"family":"decreased salivary flow"},{"family":"reduced salivation"},{"family":"Dryness of the mouth due to salivary gland dysfunction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000217","type":"entry-dictionary","title":"Xerostomia"},{"container-title":"HP:0000218","author":[{"family":"elevated palate"},{"family":"high, arched palate"},{"family":"high-arched palate"},{"family":"increased palatal height"},{"family":"high palate"},{"family":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000218","type":"entry-dictionary","title":"High palate"},{"container-title":"HP:0000219","author":[{"family":"decreased height of upper lip vermilion"},{"family":"thin red part of the upper lip"},{"family":"thin upper lips"},{"family":"thin vermilion border of upper lip"},{"family":"decreased volume of upper lip vermilion"},{"family":"Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000219","type":"entry-dictionary","title":"Thin upper lip vermilion"},{"container-title":"HP:0000220","author":[{"family":"velopharyngeal dysfunction"},{"family":"velopharyngeal incompetence"},{"family":"Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000220","type":"entry-dictionary","title":"Velopharyngeal insufficiency"},{"container-title":"HP:0000221","author":[{"family":"fissured tongue"},{"family":"plicated tongue"},{"family":"grooved tongue"},{"family":"prominent tongue grooves"},{"family":"lingue plicata"},{"family":"lingual furrow"},{"family":"scrotal tongue"},{"family":"Accentuation of the grooves on the dorsal surface of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000221","type":"entry-dictionary","title":"Furrowed tongue"},{"container-title":"HP:0000222","author":[{"family":"hyperkeratosis, gingival"},{"family":"Hyperkeratosis of the gingiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000222","type":"entry-dictionary","title":"Gingival hyperkeratosis"},{"container-title":"HP:0000223","author":[{"family":"abnormality of taste sensation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000223","type":"entry-dictionary","title":"Abnormality of taste sensation"},{"container-title":"HP:0000224","author":[{"family":"lost taste"},{"family":"decreased taste sensation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000224","type":"entry-dictionary","title":"Decreased taste sensation"},{"container-title":"HP:0000225","author":[{"family":"gingival hemorrhage"},{"family":"bleeding gums"},{"family":"gingivorrhagia"},{"family":"Hemorrhage affecting the gingiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000225","type":"entry-dictionary","title":"Gingival bleeding"},{"container-title":"HP:0000227","author":[{"family":"lingual angioectasias"},{"family":"lingual telangiectasia"},{"family":"spider veins of the tongue"},{"family":"angioectasias of the tongue"},{"family":"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000227","type":"entry-dictionary","title":"Tongue telangiectasia"},{"container-title":"HP:0000228","author":[{"family":"angioectasias of the oral cavity"},{"family":"spider veins of the oral cavity"},{"family":"angioectasias of the mouth"},{"family":"oral cavity teleangiectasia"},{"family":"spider veins of the mouth"},{"family":"Presence of telangiectases in the oral cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000228","type":"entry-dictionary","title":"Oral cavity telangiectasia"},{"container-title":"HP:0000230","author":[{"family":"gingival inflammation"},{"family":"inflamed gums"},{"family":"red and swollen gums"},{"family":"Inflammation of the gingiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000230","type":"entry-dictionary","title":"Gingivitis"},{"container-title":"HP:0000232","author":[{"family":"outward turned lower lip"},{"family":"drooping lower lip"},{"family":"everted prominent lower lip"},{"family":"eclabium of lower lip"},{"family":"everted lower lip"},{"family":"protruding lower lip"},{"family":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000232","type":"entry-dictionary","title":"Everted lower lip vermilion"},{"container-title":"HP:0000233","author":[{"family":"thin lips"},{"family":"thin vermillion"},{"family":"thin vermilion borders"},{"family":"decreased volume of lip vermillion"},{"family":"Reduced width of the skin of vermilion border region of upper lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000233","type":"entry-dictionary","title":"Thin vermilion border"},{"container-title":"HP:0000234","author":[{"family":"abnormal head"},{"family":"abnormality of the head"},{"family":"head abnormality"},{"family":"An abnormality of the head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000234","type":"entry-dictionary","title":"Abnormality of the head"},{"container-title":"HP:0000235","author":[{"family":"Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments )."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000235","type":"entry-dictionary","title":"Abnormality of the fontanelles or cranial sutures"},{"container-title":"HP:0000236","author":[{"family":"abnormality of the forehead soft spot"},{"family":"An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000236","type":"entry-dictionary","title":"Abnormality of the anterior fontanelle"},{"container-title":"HP:0000237","author":[{"family":"small forehead fontanel"},{"family":"small anterior fontanel"},{"family":"Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000237","type":"entry-dictionary","title":"Small anterior fontanelle"},{"container-title":"HP:0000238","author":[{"family":"nonsyndromal hydrocephalus"},{"family":"hydrocephaly"},{"family":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000238","type":"entry-dictionary","title":"Hydrocephalus"},{"container-title":"HP:0000239","author":[{"family":"persistent wide fontanel"},{"family":"large bregma sutures"},{"family":"enlarged fontanelles"},{"family":"large fontanelle"},{"family":"wide fontanelles"},{"family":"large fontanels"},{"family":"wide bregma sutures"},{"family":"large, late-closing fontanelle"},{"family":"In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000239","type":"entry-dictionary","title":"Large fontanelles"},{"container-title":"HP:0000240","author":[{"family":"abnormality of head size"},{"family":"abnormality of cranium size"},{"family":"abnormality of skull size"},{"family":"Any abnormality of the size of the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000240","type":"entry-dictionary","title":"Abnormality of skull size"},{"container-title":"HP:0000242","author":[{"family":"bossing of parietal bone"},{"family":"biparietal bossing"},{"family":"Parietal bossing is a marked prominence in the parietal region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000242","type":"entry-dictionary","title":"Parietal bossing"},{"container-title":"HP:0000243","author":[{"family":"triangular skull shape"},{"family":"triangular head shape"},{"family":"wedge shaped cranium"},{"family":"wedge shaped skull"},{"family":"triangular cranium shape"},{"family":"wedge shaped head"},{"family":"Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000243","type":"entry-dictionary","title":"Trigonocephaly"},{"container-title":"HP:0000244","author":[{"family":"turribrachycephaly"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000244","type":"entry-dictionary","title":"Brachyturricephaly"},{"container-title":"HP:0000245","author":[{"family":"abnormality of the sinuses of the head"},{"family":"Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000245","type":"entry-dictionary","title":"Abnormality of the paranasal sinuses"},{"container-title":"HP:0000246","author":[{"family":"sinus disease"},{"family":"sinus infection"},{"family":"sinus inflammation"},{"family":"Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000246","type":"entry-dictionary","title":"Sinusitis"},{"container-title":"HP:0000248","author":[{"family":"broad head shape"},{"family":"broad skull shape"},{"family":"broad cranium shape"},{"family":"wide head shape"},{"family":"wide cranium shape"},{"family":"wide skull shape"},{"family":"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000248","type":"entry-dictionary","title":"Brachycephaly"},{"container-title":"HP:0000250","author":[{"family":"dense skull cap"},{"family":"An abnormal increase of density of the bones making up the calvaria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000250","type":"entry-dictionary","title":"Dense calvaria"},{"container-title":"HP:0000252","author":[{"family":"decreased size of head"},{"family":"small head circumference"},{"family":"abnormally small cranium"},{"family":"decreased circumference of cranium"},{"family":"abnormally small skull"},{"family":"reduced head circumference"},{"family":"decreased size of cranium"},{"family":"abnormally small head"},{"family":"decreased size of skull"},{"family":"small calvarium"},{"family":"Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000252","type":"entry-dictionary","title":"Microcephaly"},{"container-title":"HP:0000253","author":[{"family":"microcephaly, postnatal, progressive"},{"family":"progressively abnormally small cranium"},{"family":"progressively abnormally small skull"},{"family":"microcephaly, progressive"},{"family":"Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000253","type":"entry-dictionary","title":"Progressive microcephaly"},{"container-title":"HP:0000255","author":[{"family":"An acute form of sinusitis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000255","type":"entry-dictionary","title":"Acute sinusitis"},{"container-title":"HP:0000256","author":[{"family":"big calvaria"},{"family":"large skull"},{"family":"macrocrania"},{"family":"big skull"},{"family":"increased size of head"},{"family":"increased size of cranium"},{"family":"big cranium"},{"family":"large calvaria"},{"family":"large head circumference"},{"family":"megacephaly"},{"family":"big head"},{"family":"increased size of skull"},{"family":"large cranium"},{"family":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000256","type":"entry-dictionary","title":"Macrocephaly"},{"container-title":"HP:0000260","author":[{"family":"large anterior fontanels"},{"family":"large anterior fontanelle"},{"family":"wide open anterior fontanelle"},{"family":"large open anterior fontanelle"},{"family":"wide anterior fontanelle"},{"family":"Enlargement of the anterior fontanelle with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000260","type":"entry-dictionary","title":"Wide anterior fontanel"},{"container-title":"HP:0000262","author":[{"family":"tall shaped skull"},{"family":"tall shaped head"},{"family":"tall shaped cranium"},{"family":"tower cranium shape"},{"family":"tower skull shape"},{"family":"Tall head relative to width and length."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000262","type":"entry-dictionary","title":"Turricephaly"},{"container-title":"HP:0000263","author":[{"family":"acrocephaly"},{"family":"Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000263","type":"entry-dictionary","title":"Oxycephaly"},{"container-title":"HP:0000264","author":[{"family":"abnormality of mastoid process of temporal bone"},{"family":"An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000264","type":"entry-dictionary","title":"Abnormality of the mastoid"},{"container-title":"HP:0000265","author":[{"family":"Mastoiditis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000265","type":"entry-dictionary","title":"Mastoiditis"},{"container-title":"HP:0000267","author":[{"family":"uneven head shape"},{"family":"asymmetry of head"},{"family":"cranial vault asymmetry"},{"family":"malformation of cranial vault shape"},{"family":"abnormality of cranial vault shape"},{"family":"abnormality of head shape"},{"family":"abnormality of cranium shape"},{"family":"malformation of cranium shape"},{"family":"asymmetry of cranium"},{"family":"malformation of head shape"},{"family":"Asymmetry of the bones of the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000267","type":"entry-dictionary","title":"Cranial asymmetry"},{"container-title":"HP:0000268","author":[{"family":"long, narrow head"},{"family":"turridolichocephaly"},{"family":"large dolichocephalic skull"},{"family":"narrow cranium shape"},{"family":"narrow head shape"},{"family":"narrow skull shape"},{"family":"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000268","type":"entry-dictionary","title":"Dolichocephaly"},{"container-title":"HP:0000269","author":[{"family":"protruding occiput"},{"family":"prominent back of the head"},{"family":"prominent posterior cranium"},{"family":"prominent posterior head"},{"family":"prominent posterior skull"},{"family":"prominent back of the skull"},{"family":"protruding back of the head"},{"family":"Increased convexity of the occiput (posterior part of the skull)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000269","type":"entry-dictionary","title":"Prominent occiput"},{"container-title":"HP:0000270","author":[{"family":"late closure of fontanelle"},{"family":"delayed closure of fontanelles"},{"family":"delayed cranial suture closure"},{"family":"delayed closure of the fontanelles"},{"family":"broad late closing cranial sutures"},{"family":"delayed fontanelle closure"},{"family":"late closing fontanelles"},{"family":"late-closing fontanelle"},{"family":"delayed fontanel closure"},{"family":"open sutures"},{"family":"delayed closure of fontanels"},{"family":"Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000270","type":"entry-dictionary","title":"Delayed cranial suture closure"},{"container-title":"HP:0000271","author":[{"family":"abnormality of the countenance"},{"family":"anomaly of face"},{"family":"abnormal face"},{"family":"facial anomaly"},{"family":"abnormality of the visage"},{"family":"abnormality of the physiognomy"},{"family":"abnormality of the face"},{"family":"anomaly of the face"},{"family":"facial abnormality"},{"family":"disorder of the face"},{"family":"disorder of face"},{"family":"An abnormality of the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000271","type":"entry-dictionary","title":"Abnormality of the face"},{"container-title":"HP:0000272","author":[{"family":"malar hypoplasia"},{"family":"zygomatic flattening"},{"family":"hypotrophic malar bone"},{"family":"underdevelopment of malar bone"},{"family":"decreased size of malar bone"},{"family":"depressed malar region"},{"family":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and\/or by palpation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000272","type":"entry-dictionary","title":"Malar flattening"},{"container-title":"HP:0000273","author":[{"family":"facial grimacing"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000273","type":"entry-dictionary","title":"Facial grimacing"},{"container-title":"HP:0000274","author":[{"family":"microfacies"},{"family":"small facies"},{"family":"small face"},{"family":"short and narrow face"},{"family":"hypoplasia of face"},{"family":"facial hypoplasia"},{"family":"microface"},{"family":"A face that is short (HP:0011219) and narrow (HP:0000275)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000274","type":"entry-dictionary","title":"Small face"},{"container-title":"HP:0000275","author":[{"family":"decreased breadth of face"},{"family":"horizontal deficiency of face"},{"family":"horizontal hypoplasia of face"},{"family":"horizontal insufficiency of face"},{"family":"transverse hypoplasia of face"},{"family":"decreased horizontal dimension of face"},{"family":"narrow face"},{"family":"narrow facies"},{"family":"thin facies"},{"family":"thin face"},{"family":"transverse insufficiency of face"},{"family":"decreased transverse dimension of face"},{"family":"transverse deficiency of face"},{"family":"decreased width of face"},{"family":"Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000275","type":"entry-dictionary","title":"Narrow face"},{"container-title":"HP:0000276","author":[{"family":"vertical excess of face"},{"family":"long face"},{"family":"vertical overgrowth of face"},{"family":"increased length of face"},{"family":"increased vertical dimension of face"},{"family":"vertical elongation of face"},{"family":"vertical facial excess"},{"family":"long facies"},{"family":"vertical enlargement of face"},{"family":"vertical hyperplasia of face"},{"family":"increased height of face"},{"family":"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000276","type":"entry-dictionary","title":"Long face"},{"container-title":"HP:0000277","author":[{"family":"deformity of the lower jaw bone"},{"family":"anomaly of the mandible"},{"family":"malformation of the lower jaw bone"},{"family":"malformation of the mandible"},{"family":"abnormality of the mandible"},{"family":"deformity of the mandible"},{"family":"abnormality of the lower jaw bone"},{"family":"Any abnormality of the mandible, the bone of the lower jaw."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000277","type":"entry-dictionary","title":"Abnormality of the mandible"},{"container-title":"HP:0000278","author":[{"family":"retrognathia of lower jaw"},{"family":"receding mandible"},{"family":"weak jaw"},{"family":"receding chin"},{"family":"receding lower jaw"},{"family":"weak chin"},{"family":"retrogenia"},{"family":"An abnormality in which the mandible is mislocalised posteriorly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000278","type":"entry-dictionary","title":"Retrognathia"},{"container-title":"HP:0000280","author":[{"family":"coarse facial appearance"},{"family":"thickened facial skin with coarse facial features"},{"family":"coarse face"},{"family":"rounded and heavy facial features"},{"family":"coarse facies"},{"family":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000280","type":"entry-dictionary","title":"Coarse facial features"},{"container-title":"HP:0000282","author":[{"family":"facial puffiness"},{"family":"facial swelling"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000282","type":"entry-dictionary","title":"Facial edema"},{"container-title":"HP:0000283","author":[{"family":"broad facies"},{"family":"increased horizontal dimension of face"},{"family":"transverse excess of face"},{"family":"broad face"},{"family":"horizontal excess of face"},{"family":"increased transverse dimension of face"},{"family":"increased width of face"},{"family":"wide facies"},{"family":"horizontal hyperplasia of face"},{"family":"increased breadth of face"},{"family":"transverse hyperplasia of face"},{"family":"wide face"},{"family":"Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000283","type":"entry-dictionary","title":"Broad face"},{"container-title":"HP:0000286","author":[{"family":"palpebronasal fold"},{"family":"epicanthal folds"},{"family":"epicanthic folds"},{"family":"plica palpebronasalis"},{"family":"prominent eye folds"},{"family":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000286","type":"entry-dictionary","title":"Epicanthus"},{"container-title":"HP:0000287","author":[{"family":"facial fat hyperplasia"},{"family":"facial fat hypertrophy"},{"family":"increased amount of facial adipose tissue"},{"family":"hyperplasia of facial adipose tissue"},{"family":"hypertrophy of facial adipose tissue"},{"family":"increased amount of facial fat"},{"family":"increased volume of facial adipose tissue"},{"family":"An increased amount of subcutaneous fat tissue in the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000287","type":"entry-dictionary","title":"Increased facial adipose tissue"},{"container-title":"HP:0000288","author":[{"family":"abnormality of the infranasal depression"},{"family":"abnormal philtrum"},{"family":"abnormality of the paralabial region"},{"family":"An abnormality of the philtrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000288","type":"entry-dictionary","title":"Abnormality of the philtrum"},{"container-title":"HP:0000289","author":[{"family":"increased width of philtrum"},{"family":"increased breadth of philtrum"},{"family":"increased transverse dimension of philtrum"},{"family":"increased horizontal dimension of philtrum"},{"family":"wide philtrum"},{"family":"Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000289","type":"entry-dictionary","title":"Broad philtrum"},{"container-title":"HP:0000290","author":[{"family":"abnormality of the frontal region of the face"},{"family":"anomaly of the forehead"},{"family":"malformation of the forehead"},{"family":"abnormality of the forehead"},{"family":"deformity of the forehead"},{"family":"An anomaly of the forehead."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000290","type":"entry-dictionary","title":"Abnormality of the forehead"},{"container-title":"HP:0000291","author":[{"family":"deformity of facial adipose tissue"},{"family":"malformation of facial adipose tissue"},{"family":"abnormality of facial fat"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000291","type":"entry-dictionary","title":"Abnormality of facial adipose tissue"},{"container-title":"HP:0000292","author":[{"family":"decreased amount of facial fat"},{"family":"decreased amount of facial adipose tissue"},{"family":"loss of subcutaneous adipose tissue from face"},{"family":"loss of facial fat"},{"family":"loss of facial subcutaneous adipose tissue"},{"family":"decreased volume of facial adipose tissue"},{"family":"Loss of normal subcutaneous fat tissue in the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000292","type":"entry-dictionary","title":"Loss of facial adipose tissue"},{"container-title":"HP:0000293","author":[{"family":"full cheeks"},{"family":"hypertrophy of cheeks"},{"family":"big cheeks"},{"family":"hyperplasia of cheeks"},{"family":"apple cheeks"},{"family":"puffy cheeks"},{"family":"chubby cheeks"},{"family":"increased size of cheeks"},{"family":"large cheeks"},{"family":"Increased prominence or roundness of soft tissues between zygomata and mandible."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000293","type":"entry-dictionary","title":"Full cheeks"},{"container-title":"HP:0000294","author":[{"family":"low frontal hairline"},{"family":"low-set frontal hairline"},{"family":"Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000294","type":"entry-dictionary","title":"Low anterior hairline"},{"container-title":"HP:0000295","author":[{"family":"doll-like facial appearance"},{"family":"A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000295","type":"entry-dictionary","title":"Doll-like facies"},{"container-title":"HP:0000297","author":[{"family":"hypotonic facies"},{"family":"atony of facial musculature"},{"family":"low facial muscle tone"},{"family":"decreased facial muscle tone"},{"family":"reduced facial muscle tone"},{"family":"Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000297","type":"entry-dictionary","title":"Facial hypotonia"},{"container-title":"HP:0000298","author":[{"family":"masklike facies"},{"family":"lack of facial expression"},{"family":"mask-like facial appearance"},{"family":"expressionless face"},{"family":"amimia"},{"family":"A lack of facial expression often with staring eyes and a slightly open mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000298","type":"entry-dictionary","title":"Mask-like facies"},{"container-title":"HP:0000300","author":[{"family":"oval facies"},{"family":"oval facial shape"},{"family":"oval face"},{"family":"A face with a rounded and slightly elongated outline."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000300","type":"entry-dictionary","title":"Oval face"},{"container-title":"HP:0000301","author":[{"family":"facial muscle issue"},{"family":"abnormality of facial muscles"},{"family":"An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000301","type":"entry-dictionary","title":"Abnormality of facial musculature"},{"container-title":"HP:0000303","author":[{"family":"large mandible"},{"family":"increased size of lower jaw"},{"family":"macromandible"},{"family":"mandible prognathism"},{"family":"hyperplasia of lower jaw"},{"family":"big lower jaw"},{"family":"large lower jaw"},{"family":"big mandible"},{"family":"enlarged mandible"},{"family":"lower jaw hyperplasia"},{"family":"prominent chin"},{"family":"increased projection of lower jaw"},{"family":"increased projection of mandible"},{"family":"relative mandibular prognathism"},{"family":"lower jaw excess"},{"family":"increased size of mandible"},{"family":"mandibular hyperplasia"},{"family":"mandibular excess"},{"family":"prominent jaw"},{"family":"prominent mandible"},{"family":"mandibular macrognathia"},{"family":"enlargement of mandible"},{"family":"prognathia"},{"family":"hypertrophy of mandible"},{"family":"hypertrophy of lower jaw"},{"family":"prominent lower jaw"},{"family":"Abnormal prominence of the chin related to increased length of the mandible."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000303","type":"entry-dictionary","title":"Mandibular prognathia"},{"container-title":"HP:0000306","author":[{"family":"abnormality of the menton"},{"family":"abnormality of the chin"},{"family":"anomaly of the chin"},{"family":"malformation of the chin"},{"family":"deformity of the chin"},{"family":"An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000306","type":"entry-dictionary","title":"Abnormality of the chin"},{"container-title":"HP:0000307","author":[{"family":"small pointed chin"},{"family":"pointy chin"},{"family":"witch's chin"},{"family":"pointed mention region"},{"family":"A marked tapering of the lower face to the chin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000307","type":"entry-dictionary","title":"Pointed chin"},{"container-title":"HP:0000308","author":[{"family":"retromicrognathia"},{"family":"A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000308","type":"entry-dictionary","title":"Microretrognathia"},{"container-title":"HP:0000309","author":[{"family":"abnormality of the midface"},{"family":"deformity of the midface"},{"family":"malformation of the midface"},{"family":"anomaly of the midface"},{"family":"An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000309","type":"entry-dictionary","title":"Abnormality of the midface"},{"container-title":"HP:0000311","author":[{"family":"round face"},{"family":"round facial shape"},{"family":"circular face"},{"family":"round, full face"},{"family":"round facial appearance"},{"family":"round facies"},{"family":"The facial appearance is more circular than usual as viewed from the front."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000311","type":"entry-dictionary","title":"Round face"},{"container-title":"HP:0000315","author":[{"family":"abnormality of the region around the eyes"},{"family":"abnormality of the eye region"},{"family":"anomaly of the orbital region of the face"},{"family":"deformity of the orbital region of the face"},{"family":"malformation of the orbital region of the face"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000315","type":"entry-dictionary","title":"Abnormality of the orbital region"},{"container-title":"HP:0000316","author":[{"family":"increased distance between eyes"},{"family":"excessive orbital separation"},{"family":"widened interpupillary distance"},{"family":"wide-set eyes"},{"family":"increased interpupillary distance"},{"family":"ocular hypertelorism"},{"family":"increased distance between eye sockets"},{"family":"widely spaced eyes"},{"family":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000316","type":"entry-dictionary","title":"Hypertelorism"},{"container-title":"HP:0000317","author":[{"family":"involuntary facial quivering"},{"family":"involuntary facial contraction"},{"family":"Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000317","type":"entry-dictionary","title":"Facial myokymia"},{"container-title":"HP:0000319","author":[{"family":"simple philtrum"},{"family":"indistinct philtrum"},{"family":"philtrum, smooth"},{"family":"shallow philtrum"},{"family":"decreased depth of philtrum"},{"family":"flat philtrum"},{"family":"Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000319","type":"entry-dictionary","title":"Smooth philtrum"},{"container-title":"HP:0000320","author":[{"family":"bird-like facial appearance"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000320","type":"entry-dictionary","title":"Bird-like facies"},{"container-title":"HP:0000321","author":[{"family":"square face"},{"family":"square facial shape"},{"family":"square facies"},{"family":"Facial contours, as viewed from the front, show a broad upper face\/cranium and lower face\/mandible, creating a square appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000321","type":"entry-dictionary","title":"Square face"},{"container-title":"HP:0000322","author":[{"family":"vertical hypoplasia of philtrum"},{"family":"decreased vertical dimension of philtrum"},{"family":"decreased length of philtrum"},{"family":"decreased height of philtrum"},{"family":"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000322","type":"entry-dictionary","title":"Short philtrum"},{"container-title":"HP:0000324","author":[{"family":"uneven sides of face"},{"family":"asymmetry of face"},{"family":"uneven face"},{"family":"asymmetric facies"},{"family":"unbalanced face"},{"family":"asymmetry of right and left side of face"},{"family":"crooked face"},{"family":"unequal sides of face"},{"family":"facial asymmetry"},{"family":"unsymmetrical face"},{"family":"An abnormal difference between the left and right sides of the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000324","type":"entry-dictionary","title":"Facial asymmetry"},{"container-title":"HP:0000325","author":[{"family":"triangular facies"},{"family":"face with broad temples and narrow chin"},{"family":"triangular facial shape"},{"family":"triangular face"},{"family":"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000325","type":"entry-dictionary","title":"Triangular face"},{"container-title":"HP:0000326","author":[{"family":"deformity of the upper jaw bones"},{"family":"abnormality of the upper jaw bones"},{"family":"anomaly of the maxilla"},{"family":"deformity of the maxilla"},{"family":"malformation of the maxilla"},{"family":"malformation of the upper jaw bones"},{"family":"An abnormality of the Maxilla (upper jaw bone)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000326","type":"entry-dictionary","title":"Abnormality of the maxilla"},{"container-title":"HP:0000327","author":[{"family":"maxillary hypoplasia"},{"family":"decreased size of upper jaw"},{"family":"hypoplastic maxillary bones"},{"family":"maxillary retrognathia"},{"family":"small maxilla"},{"family":"small upper jaw bones"},{"family":"upper jaw retrusion"},{"family":"decreased size of maxilla"},{"family":"maxillary deficiency"},{"family":"deficiency of upper jaw bones"},{"family":"retrognathia of upper jaw"},{"family":"hypoplasia of upper jaw bones"},{"family":"hypotrophic upper jaw bones"},{"family":"micromaxilla"},{"family":"decreased projection of upper jaw"},{"family":"retrusion of upper jaw bones"},{"family":"decreased projection of maxilla"},{"family":"upper jaw deficiency"},{"family":"hypotrophic maxilla"},{"family":"maxillary retrusion"},{"family":"maxillary micrognathia"},{"family":"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000327","type":"entry-dictionary","title":"Hypoplasia of the maxilla"},{"container-title":"HP:0000329","author":[{"family":"facial hemangiomata"},{"family":"Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000329","type":"entry-dictionary","title":"Facial hemangioma"},{"container-title":"HP:0000331","author":[{"family":"small chin"},{"family":"short lower third of face"},{"family":"decreased height of chin"},{"family":"short chin"},{"family":"vertical deficiency of chin"},{"family":"vertical hypoplasia of chin"},{"family":"Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000331","type":"entry-dictionary","title":"Short chin"},{"container-title":"HP:0000336","author":[{"family":"hypertrophy of supraorbital margins"},{"family":"prominent supraorbital margins"},{"family":"hypertrophy of supraorbital ridge"},{"family":"protruding supraorbital ridge"},{"family":"prominent brow"},{"family":"supraorbital hyperostosis"},{"family":"hyperplasia of supraorbital ridge"},{"family":"prominent supraorbital ridge"},{"family":"hyperplasia of supraorbital margins"},{"family":"Greater than average forward and\/or lateral protrusion of the supraorbital portion of the frontal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000336","type":"entry-dictionary","title":"Prominent supraorbital ridges"},{"container-title":"HP:0000337","author":[{"family":"increased width of the forehead"},{"family":"increased bitemporal dimension"},{"family":"intertemporal widening"},{"family":"bitemporal widening"},{"family":"broad forehead"},{"family":"increased bitemporal width"},{"family":"wide forehead"},{"family":"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000337","type":"entry-dictionary","title":"Broad forehead"},{"container-title":"HP:0000338","author":[{"family":"decreased facial muscle movement"},{"family":"decreased facial expressions"},{"family":"hypomimia"},{"family":"dull facial expression"},{"family":"A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000338","type":"entry-dictionary","title":"Hypomimic face"},{"container-title":"HP:0000339","author":[{"family":"boxer-like facial appearance"},{"family":"pugilistic facial appearance"},{"family":"Coarse facial features reminiscent of those of a boxer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000339","type":"entry-dictionary","title":"Pugilistic facies"},{"container-title":"HP:0000340","author":[{"family":"receding forehead"},{"family":"inclined forehead"},{"family":"posteriorly sloping forehead"},{"family":"Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000340","type":"entry-dictionary","title":"Sloping forehead"},{"container-title":"HP:0000341","author":[{"family":"bitemporal narrowness"},{"family":"bitemporal skull narrowing"},{"family":"narrow forehead"},{"family":"bitemporal narrowing"},{"family":"narrow bitemporal width"},{"family":"narrow bitemporal diameter"},{"family":"decreased width of the forehead"},{"family":"intertemporal narrowing"},{"family":"Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000341","type":"entry-dictionary","title":"Narrow forehead"},{"container-title":"HP:0000343","author":[{"family":"increased vertical dimension of philtrum"},{"family":"elongated philtrum"},{"family":"increased length of philtrum"},{"family":"increased height of philtrum"},{"family":"vertical hyperplasia of philtrum"},{"family":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000343","type":"entry-dictionary","title":"Long philtrum"},{"container-title":"HP:0000346","author":[{"family":"whistling appearance"},{"family":"whistling facial appearance"},{"family":"An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000346","type":"entry-dictionary","title":"Whistling appearance"},{"container-title":"HP:0000347","author":[{"family":"decreased projection of mandible"},{"family":"decreased projection of lower jaw"},{"family":"lower jaw retrognathia"},{"family":"lower jaw retrusion"},{"family":"mandibular deficiency"},{"family":"hypoplastic mandible condyle"},{"family":"robin mandible"},{"family":"small mandible"},{"family":"lower jaw hypoplasia"},{"family":"hypotrophic mandible"},{"family":"deficiency of lower jaw"},{"family":"mandibular retrognathia"},{"family":"retrusion of lower jaw"},{"family":"decreased size of mandible"},{"family":"micromandible"},{"family":"severe hypoplasia of mandible"},{"family":"small lower jaw"},{"family":"hypotrophic lower jaw"},{"family":"little lower jaw"},{"family":"small jaw"},{"family":"underdevelopment of lower jaw"},{"family":"hypoplasia of lower jaw"},{"family":"decreased size of lower jaw"},{"family":"little mandible"},{"family":"underdevelopment of mandible"},{"family":"mandibular micrognathia"},{"family":"lower jaw deficiency"},{"family":"mandibular hypoplasia"},{"family":"mandibular retrusion"},{"family":"micrognathia of lower jaw"},{"family":"Developmental hypoplasia of the mandible."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000347","type":"entry-dictionary","title":"Micrognathia"},{"container-title":"HP:0000348","author":[{"family":"tall forehead"},{"family":"high forehead"},{"family":"An abnormally increased height of the forehead."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000348","type":"entry-dictionary","title":"High forehead"},{"container-title":"HP:0000349","author":[{"family":"hairline point"},{"family":"v-shaped frontal hairline"},{"family":"widow's peak"},{"family":"hairline peak"},{"family":"Frontal hairline with bilateral arcs to a low point in the midline of the forehead."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000349","type":"entry-dictionary","title":"Widow's peak"},{"container-title":"HP:0000350","author":[{"family":"small forehead"},{"family":"hypotrophic forehead"},{"family":"decreased size of forehead"},{"family":"decreased size of frontal region of face"},{"family":"hypoplasia of forehead"},{"family":"The presence of a forehead that is abnormally small."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000350","type":"entry-dictionary","title":"Small forehead"},{"container-title":"HP:0000356","author":[{"family":"abnormality of the outer ear"},{"family":"ear anomalies"},{"family":"outer ear abnormality"},{"family":"abnormality of the external ear"},{"family":"external ear malformations"},{"family":"abnormal pinnae"},{"family":"malformed pinnae"},{"family":"abnormality of the auricle"},{"family":"An abnormality of the external ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000356","type":"entry-dictionary","title":"Abnormality of the outer ear"},{"container-title":"HP:0000357","author":[{"family":"external ear position defect"},{"family":"abnormal location of ears"},{"family":"Abnormal location of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000357","type":"entry-dictionary","title":"Abnormal location of ears"},{"container-title":"HP:0000358","author":[{"family":"ear, posterior angulation, increased"},{"family":"posteriorly-angulated ears"},{"family":"posteriorly rotated auricles"},{"family":"posteriorly angulated ears"},{"family":"posteriorly-rotated ears"},{"family":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000358","type":"entry-dictionary","title":"Posteriorly rotated ears"},{"container-title":"HP:0000359","author":[{"family":"inner ear abnormality"},{"family":"abnormality of the inner ear"},{"family":"An abnormality of the inner ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000359","type":"entry-dictionary","title":"Abnormality of the inner ear"},{"container-title":"HP:0000360","author":[{"family":"ringing in ears"},{"family":"ringing in the ears"},{"family":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000360","type":"entry-dictionary","title":"Tinnitus"},{"container-title":"HP:0000362","author":[{"family":"In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000362","type":"entry-dictionary","title":"Otosclerosis"},{"container-title":"HP:0000363","author":[{"family":"abnormality of earlobe"},{"family":"abnormal earlobe"},{"family":"abnormality of ear lobe"},{"family":"An abnormality of the lobule of pinna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000363","type":"entry-dictionary","title":"Abnormality of earlobe"},{"container-title":"HP:0000364","author":[{"family":"hearing abnormality"},{"family":"abnormal hearing"},{"family":"An abnormality of the sensory perception of sound."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000364","type":"entry-dictionary","title":"Hearing abnormality"},{"container-title":"HP:0000365","author":[{"family":"hearing defect"},{"family":"congenital deafness"},{"family":"hearing impairment"},{"family":"congenital hearing loss"},{"family":"hypoacusis"},{"family":"A decreased magnitude of the sensory perception of sound."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000365","type":"entry-dictionary","title":"Hearing impairment"},{"container-title":"HP:0000366","author":[{"family":"abnormality of the nose"},{"family":"malformation of the nose"},{"family":"nasal deformity"},{"family":"nasal abnormality"},{"family":"nasal malformation"},{"family":"anomaly of the nose"},{"family":"deformity of the nose"},{"family":"nasal anomaly"},{"family":"An abnormality of the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000366","type":"entry-dictionary","title":"Abnormality of the nose"},{"container-title":"HP:0000368","author":[{"family":"low-set posteriorly rotated ears"},{"family":"Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000368","type":"entry-dictionary","title":"Low-set, posteriorly rotated ears"},{"container-title":"HP:0000369","author":[{"family":"low-set ears"},{"family":"melotia"},{"family":"low set ears"},{"family":"lowset ears"},{"family":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000369","type":"entry-dictionary","title":"Low-set ears"},{"container-title":"HP:0000370","author":[{"family":"middle ear abnormality"},{"family":"middle ear abnormalities"},{"family":"An abnormality of the middle ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000370","type":"entry-dictionary","title":"Abnormality of the middle ear"},{"container-title":"HP:0000371","author":[{"family":"acute middle ear infection"},{"family":"Acute otitis media is a short and generally painful infection of the middle ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000371","type":"entry-dictionary","title":"Acute otitis media"},{"container-title":"HP:0000372","author":[{"family":"auditory canal abnormality"},{"family":"An abnormality of the External acoustic tube (also known as the auditory canal)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000372","type":"entry-dictionary","title":"Abnormality of the auditory canal"},{"container-title":"HP:0000375","author":[{"family":"abnormality of cochlea"},{"family":"An abnormality of the cochlea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000375","type":"entry-dictionary","title":"Abnormal cochlea morphology"},{"container-title":"HP:0000376","author":[{"family":"mondini malformation"},{"family":"The cochlea is lacking the entire modiolus and cribriform area, resulting in a cystic appearance. This is accompanied by a large cystic vestibule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000376","type":"entry-dictionary","title":"Incomplete partition of the cochlea type II"},{"container-title":"HP:0000377","author":[{"family":"malformed ears"},{"family":"deformed auricles"},{"family":"poorly defined conchae"},{"family":"simple ears"},{"family":"abnormally shaped ears"},{"family":"malformed external ears"},{"family":"minor malformation of the auricles"},{"family":"malformation of auricle"},{"family":"deformed ears"},{"family":"dysplastic ears"},{"family":"abnormal form of ears"},{"family":"auricular malformation"},{"family":"malformed auricles"},{"family":"An abnormality of the pinna, which is also referred to as the auricle or external ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000377","type":"entry-dictionary","title":"Abnormality of the pinna"},{"container-title":"HP:0000378","author":[{"family":"capuchin ears"},{"family":"simple, cup-shaped ears"},{"family":"cupped ears"},{"family":"Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000378","type":"entry-dictionary","title":"Cupped ear"},{"container-title":"HP:0000381","author":[{"family":"Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and\/or middle-ear ossicles)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000381","type":"entry-dictionary","title":"Stapes ankylosis"},{"container-title":"HP:0000383","author":[{"family":"abnormality of the region around the ear"},{"family":"anomaly of the periauricular region"},{"family":"malformation of the periauricular region"},{"family":"deformity of the periauricular region"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000383","type":"entry-dictionary","title":"Abnormality of periauricular region"},{"container-title":"HP:0000384","author":[{"family":"preauricular acrochordon"},{"family":"preauricular skin tags"},{"family":"preauricular fibroepithelial polyp"},{"family":"skin tag in front of the ear"},{"family":"periauricular skin tag"},{"family":"preauricular tags"},{"family":"skin tag on the posterior cheek"},{"family":"A rudimentary tag of sking often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000384","type":"entry-dictionary","title":"Preauricular skin tag"},{"container-title":"HP:0000385","author":[{"family":"small earlobes"},{"family":"hypoplastic lobules"},{"family":"hypoplastic earlobes"},{"family":"Reduced volume of the earlobe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000385","type":"entry-dictionary","title":"Small earlobe"},{"container-title":"HP:0000387","author":[{"family":"absent earlobe"},{"family":"absent ear lobes"},{"family":"lobeless ears"},{"family":"earlobe, absent"},{"family":"Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000387","type":"entry-dictionary","title":"Absent earlobe"},{"container-title":"HP:0000388","author":[{"family":"middle ear infection"},{"family":"Inflammation or infection of the middle ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000388","type":"entry-dictionary","title":"Otitis media"},{"container-title":"HP:0000389","author":[{"family":"otitis media, chronic"},{"family":"chronic middle ear infection"},{"family":"chronic ear infection"},{"family":"Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000389","type":"entry-dictionary","title":"Chronic otitis media"},{"container-title":"HP:0000391","author":[{"family":"thick helix"},{"family":"Increased thickness of the helix of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000391","type":"entry-dictionary","title":"Thickened helices"},{"container-title":"HP:0000394","author":[{"family":"Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000394","type":"entry-dictionary","title":"Lop ear"},{"container-title":"HP:0000395","author":[{"family":"The presence of an abnormally prominent antihelix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000395","type":"entry-dictionary","title":"Prominent antihelix"},{"container-title":"HP:0000396","author":[{"family":"overfolded ears"},{"family":"over-folded helices"},{"family":"overfolded helices"},{"family":"A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000396","type":"entry-dictionary","title":"Overfolded helix"},{"container-title":"HP:0000399","author":[{"family":"deafness, sensorineural, prelingual"},{"family":"prelingual sensorineural deafness"},{"family":"A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000399","type":"entry-dictionary","title":"Prelingual sensorineural hearing impairment"},{"container-title":"HP:0000400","author":[{"family":"large pinnae"},{"family":"large ears"},{"family":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000400","type":"entry-dictionary","title":"Macrotia"},{"container-title":"HP:0000402","author":[{"family":"external auditory canal stenosis"},{"family":"narrow auditory canals"},{"family":"stenotic external auditory canal"},{"family":"narrow ear canal"},{"family":"narrow external auditory meatus"},{"family":"narrow external auditory canals"},{"family":"An abnormal narrowing of the external auditory canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000402","type":"entry-dictionary","title":"Stenosis of the external auditory canal"},{"container-title":"HP:0000403","author":[{"family":"multiple episodes of otitis media"},{"family":"recurrent episodes of otitis media"},{"family":"frequent otitis media"},{"family":"otitis media, recurrent"},{"family":"susceptibility to otitis media"},{"family":"recurrent middle ear infection"},{"family":"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000403","type":"entry-dictionary","title":"Recurrent otitis media"},{"container-title":"HP:0000405","author":[{"family":"conductive deafness"},{"family":"conductive hearing loss"},{"family":"conduction deafness"},{"family":"hearing loss, conductive"},{"family":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000405","type":"entry-dictionary","title":"Conductive hearing impairment"},{"container-title":"HP:0000407","author":[{"family":"sensorineural hearing loss"},{"family":"hearing loss, sensorineural"},{"family":"sensorineural deafness"},{"family":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000407","type":"entry-dictionary","title":"Sensorineural hearing impairment"},{"container-title":"HP:0000408","author":[{"family":"hearing loss, sensorineural, bilateral, progressive"},{"family":"sensorineural hearing loss, progressive"},{"family":"hearing loss, sensorineural, progressive"},{"family":"hearing loss, progressive sensorineural"},{"family":"progressive bilateral sensorineural hearing loss"},{"family":"bilateral progressive sensorineural hearing loss"},{"family":"A progressive form of sensorineural hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000408","type":"entry-dictionary","title":"Progressive sensorineural hearing impairment"},{"container-title":"HP:0000410","author":[{"family":"mixed hearing impairment"},{"family":"mixed hearing loss"},{"family":"hearing loss, mixed"},{"family":"A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000410","type":"entry-dictionary","title":"Mixed hearing impairment"},{"container-title":"HP:0000411","author":[{"family":"prominent ears"},{"family":"protruding ears"},{"family":"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000411","type":"entry-dictionary","title":"Protruding ear"},{"container-title":"HP:0000413","author":[{"family":"absent auditory canals"},{"family":"absent ear canal"},{"family":"atretic external auditory canals"},{"family":"external acoustic meatus atresia"},{"family":"external auditory meatus atresia"},{"family":"external auditory canal atresia"},{"family":"atretic auditory canals"},{"family":"external auditory meatal atresia"},{"family":"absent external auditory canals"},{"family":"atresia of the external auditory canals"},{"family":"Absence or failure to form of the external auditory canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000413","type":"entry-dictionary","title":"Atresia of the external auditory canal"},{"container-title":"HP:0000414","author":[{"family":"potato nose"},{"family":"bulbous nasal tip"},{"family":"bulbous nose"},{"family":"Increased volume and globular shape of the anteroinferior aspect of the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000414","type":"entry-dictionary","title":"Bulbous nose"},{"container-title":"HP:0000415","author":[{"family":"Abnormality of the choanae (the posterior nasal apertures)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000415","type":"entry-dictionary","title":"Abnormality of the choanae"},{"container-title":"HP:0000417","author":[{"family":"slender nose"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000417","type":"entry-dictionary","title":"Slender nose"},{"container-title":"HP:0000418","author":[{"family":"decreased width of nasal ridge"},{"family":"decreased width of nasal dorsum"},{"family":"narrow dorsum of nose"},{"family":"narrow nasal dorsum"},{"family":"narrow nasal ridge"},{"family":"pinched nose"},{"family":"thin dorsum of nose"},{"family":"thin nasal dorsum"},{"family":"thin nasal ridge"},{"family":"decreased width of dorsum of nose"},{"family":"Decreased width of the nasal ridge."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000418","type":"entry-dictionary","title":"Narrow nasal ridge"},{"container-title":"HP:0000419","author":[{"family":"anomaly of nasal septum"},{"family":"anomaly of septum of nose"},{"family":"abnormality of septum of nose"},{"family":"abnormality of the nasal septum"},{"family":"An abnormality of the nasal septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000419","type":"entry-dictionary","title":"Abnormality of the nasal septum"},{"container-title":"HP:0000420","author":[{"family":"decreased length of nasal septum"},{"family":"decreased length of septum of nose"},{"family":"short nasal septum"},{"family":"short septum of nose"},{"family":"Reduced superior to inferior length of the nasal septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000420","type":"entry-dictionary","title":"Short nasal septum"},{"container-title":"HP:0000421","author":[{"family":"frequent nosebleeds"},{"family":"bloody nose"},{"family":"nose bleeding"},{"family":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000421","type":"entry-dictionary","title":"Epistaxis"},{"container-title":"HP:0000422","author":[{"family":"abnormality of the nasal bridge"},{"family":"abnormality of the nasal root"},{"family":"malformation of the bridge of the nose"},{"family":"deformity of the bridge of the nose"},{"family":"malformation of the nasal bridge"},{"family":"deformity of the nasal bridge"},{"family":"abnormality of the bridge of the nose"},{"family":"Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000422","type":"entry-dictionary","title":"Abnormality of the nasal bridge"},{"container-title":"HP:0000426","author":[{"family":"protruding bridge of nose"},{"family":"elevated nasal bridge"},{"family":"prominent nasal root"},{"family":"high nasal bridge"},{"family":"prominent nasal bridge"},{"family":"convex bridge of nose"},{"family":"prominent bridge of nose"},{"family":"protruding nasal bridge"},{"family":"convex nasal bridge"},{"family":"Anterior positioning of the nasal root in comparison to the usual positioning for age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000426","type":"entry-dictionary","title":"Prominent nasal bridge"},{"container-title":"HP:0000429","author":[{"family":"malformation of the nasal alar cartilage"},{"family":"abnormality of the nasal alar cartilage"},{"family":"deformity of the nasal 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width of bridge of nose"},{"family":"widened nasal bridge"},{"family":"increased width of nasal bridge"},{"family":"wide bridge of nose"},{"family":"wide nasal bridge"},{"family":"increased breadth of bridge of nose"},{"family":"broad nasal root"},{"family":"broad flat nasal bridge"},{"family":"broad nasal bridge"},{"family":"broadened nasal bridge"},{"family":"nasal bridge broad"},{"family":"nasal bridge, wide"},{"family":"Increased breadth of the nasal bridge (and with it, the nasal root)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000431","type":"entry-dictionary","title":"Wide nasal bridge"},{"container-title":"HP:0000433","author":[{"family":"abnormality of mucosa of nose"},{"family":"abnormality of nasal mucous membrane"},{"family":"abnormality of mucous membrane of nose"},{"family":"abnormality of the nasal mucosa"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000433","type":"entry-dictionary","title":"Abnormality of the nasal mucosa"},{"container-title":"HP:0000434","author":[{"family":"spider veins of mucous membrane of nose"},{"family":"spider veins of nasal mucous membrane"},{"family":"telangiectasia of mucosa of nose"},{"family":"angioectasia of mucous membrane of nose"},{"family":"angioectasia of mucosa of nose"},{"family":"nasal mucous membrane telangiectasia"},{"family":"angioectasia of nasal mucous membrane"},{"family":"telangiectasia of nasal mucous membrane"},{"family":"telangiectasia of mucous membrane of nose"},{"family":"spider veins of mucosa of nose"},{"family":"Telangiectasia of the nasal mucosa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000434","type":"entry-dictionary","title":"Nasal mucosa telangiectasia"},{"container-title":"HP:0000436","author":[{"family":"deformity of tip of nose"},{"family":"abnormality of the nasal tip"},{"family":"malformation of the nasal tip"},{"family":"malformation of tip of nose"},{"family":"abnormality of tip of nose"},{"family":"deformity of the nasal tip"},{"family":"An abnormality of the nasal tip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000436","type":"entry-dictionary","title":"Abnormality of the nasal tip"},{"container-title":"HP:0000437","author":[{"family":"depressed tip of nose"},{"family":"caved in nasal tip"},{"family":"nasal tip, retruded"},{"family":"nasal tip, depressed"},{"family":"retruded tip of nose"},{"family":"flat tip of nose"},{"family":"nasal tip, recessed"},{"family":"flat nasal tip"},{"family":"depressed nasal tip"},{"family":"flattened nasal tip"},{"family":"Decreased distance from the nasal tip to the nasal base."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000437","type":"entry-dictionary","title":"Depressed nasal tip"},{"container-title":"HP:0000444","author":[{"family":"polly beak nasal deformity"},{"family":"beaked nose"},{"family":"hooked nose"},{"family":"convex dorsum of nose"},{"family":"convex nasal dorsum"},{"family":"beaklike protrusion"},{"family":"Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000444","type":"entry-dictionary","title":"Convex nasal ridge"},{"container-title":"HP:0000445","author":[{"family":"broad nose"},{"family":"increased nasal breadth"},{"family":"increased nasal width"},{"family":"increased breadth of nose"},{"family":"increased width of nose"},{"family":"wide nose"},{"family":"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000445","type":"entry-dictionary","title":"Wide nose"},{"container-title":"HP:0000446","author":[{"family":"nasal bridge, thin"},{"family":"narrow nasal root"},{"family":"pinched bridge of nose"},{"family":"narrow nasal bridge"},{"family":"narrow bridge of nose"},{"family":"nasal bridge, narrow"},{"family":"pinched nasal bridge"},{"family":"Decreased width of the bony bridge of the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000446","type":"entry-dictionary","title":"Narrow nasal bridge"},{"container-title":"HP:0000447","author":[{"family":"pear-shaped nose"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000447","type":"entry-dictionary","title":"Pear-shaped nose"},{"container-title":"HP:0000448","author":[{"family":"hypertrophy of nose"},{"family":"nasal hypertrophy"},{"family":"prominent nose"},{"family":"pronounced nose"},{"family":"big nose"},{"family":"disproportionately large nose"},{"family":"hyperplasia of nose"},{"family":"increased nasal size"},{"family":"increased size of nose"},{"family":"nasal hyperplasia"},{"family":"Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000448","type":"entry-dictionary","title":"Prominent nose"},{"container-title":"HP:0000451","author":[{"family":"triangular nasal tip"},{"family":"triangular shaped tip of nose"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000451","type":"entry-dictionary","title":"Triangular nasal tip"},{"container-title":"HP:0000452","author":[{"family":"coanal stenosis"},{"family":"narrowing of the rear opening of the nasal cavity"},{"family":"Abnormal narrowing of the choana (the posterior nasal aperture)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000452","type":"entry-dictionary","title":"Choanal stenosis"},{"container-title":"HP:0000453","author":[{"family":"blockage of the rear opening of the nasal cavity"},{"family":"obstruction of the rear opening of the nasal cavity"},{"family":"Absence or abnormal closure of the choana (the posterior nasal aperture)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000453","type":"entry-dictionary","title":"Choanal atresia"},{"container-title":"HP:0000454","author":[{"family":"flared nasal alae"},{"family":"flared nostrils"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000454","type":"entry-dictionary","title":"Flared nostrils"},{"container-title":"HP:0000455","author":[{"family":"nasal tip, wide"},{"family":"increased width of nasal tip"},{"family":"broad tip of nose"},{"family":"increased width of tip of nose"},{"family":"broad, upturned nose"},{"family":"increased breadth of tip of nose"},{"family":"increased breadth of nasal tip"},{"family":"nasal tip, broad"},{"family":"broad nasal tip"},{"family":"broad upturned nose"},{"family":"wide tip of nose"},{"family":"Increase in width of the nasal tip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000455","type":"entry-dictionary","title":"Broad nasal tip"},{"container-title":"HP:0000456","author":[{"family":"bifid tip of nose"},{"family":"notched tip of nose"},{"family":"cleft nasal tip"},{"family":"notched nasal tip"},{"family":"cleft tip of nose"},{"family":"A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000456","type":"entry-dictionary","title":"Bifid nasal tip"},{"container-title":"HP:0000457","author":[{"family":"flat nasal dorsum"},{"family":"flat nose"},{"family":"retruded nasal dorsum"},{"family":"depressed nasal dorsum"},{"family":"recessed dorsum of nose"},{"family":"flat dorsum of nose"},{"family":"recessed nasal ridge"},{"family":"retruded dorsum of nose"},{"family":"retruded nasal ridge"},{"family":"recessed nasal dorsum"},{"family":"depressed dorsum of nose"},{"family":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000457","type":"entry-dictionary","title":"Depressed nasal ridge"},{"container-title":"HP:0000458","author":[{"family":"lost smell"},{"family":"An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000458","type":"entry-dictionary","title":"Anosmia"},{"container-title":"HP:0000460","author":[{"family":"decreased nasal breadth"},{"family":"decreased nasal width"},{"family":"narrow nose"},{"family":"thin nose"},{"family":"Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000460","type":"entry-dictionary","title":"Narrow nose"},{"container-title":"HP:0000463","author":[{"family":"nostrils anteverted"},{"family":"upturned nasal tips"},{"family":"anteverted nostrils"},{"family":"upturned nostrils"},{"family":"upturned nares"},{"family":"upturned nose"},{"family":"nasal tip, upturned"},{"family":"anteverted nose"},{"family":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000463","type":"entry-dictionary","title":"Anteverted nares"},{"container-title":"HP:0000464","author":[{"family":"malformation of the neck"},{"family":"anomaly of the neck"},{"family":"deformity of the neck"},{"family":"abnormality of the neck"},{"family":"An abnormality of the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000464","type":"entry-dictionary","title":"Abnormality of the neck"},{"container-title":"HP:0000465","author":[{"family":"neck webbing"},{"family":"pterygium colli"},{"family":"webbed neck"},{"family":"Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000465","type":"entry-dictionary","title":"Webbed neck"},{"container-title":"HP:0000466","author":[{"family":"limited cervical range of motion"},{"family":"limited neck range of motion"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000466","type":"entry-dictionary","title":"Limited neck range of motion"},{"container-title":"HP:0000467","author":[{"family":"flaccid neck"},{"family":"floppy neck"},{"family":"neck muscle weakness"},{"family":"Decreased strength of the neck musculature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000467","type":"entry-dictionary","title":"Neck muscle weakness"},{"container-title":"HP:0000468","author":[{"family":"increased fat around the neck"},{"family":"An increased amount of subcutaneous fat tissue around the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000468","type":"entry-dictionary","title":"Increased adipose tissue around the neck"},{"container-title":"HP:0000470","author":[{"family":"decreased cervical height"},{"family":"decreased length of neck"},{"family":"decreased cervical length"},{"family":"cervical shortening"},{"family":"short neck"},{"family":"Diminished length of the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000470","type":"entry-dictionary","title":"Short neck"},{"container-title":"HP:0000471","author":[{"family":"Dysplasia affecting the vasculature of the gastrointestinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000471","type":"entry-dictionary","title":"Gastrointestinal angiodysplasia"},{"container-title":"HP:0000472","author":[{"family":"increased cervical length"},{"family":"cervical elongation"},{"family":"elongated neck"},{"family":"long neck"},{"family":"increased length of neck"},{"family":"Increased inferior-superior length of the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000472","type":"entry-dictionary","title":"Long neck"},{"container-title":"HP:0000473","author":[{"family":"wry neck"},{"family":"cervical dystonia"},{"family":"loxia"},{"family":"spasmodic torticollis"},{"family":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000473","type":"entry-dictionary","title":"Torticollis"},{"container-title":"HP:0000474","author":[{"family":"thickened skin folds of neck"},{"family":"thickened nuchal skin"},{"family":"excess nuchal skin"},{"family":"thickened skin over the neck"},{"family":"A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000474","type":"entry-dictionary","title":"Thickened nuchal skin fold"},{"container-title":"HP:0000475","author":[{"family":"wide neck"},{"family":"thick neck"},{"family":"increased width of neck"},{"family":"broad neck"},{"family":"Increased side-to-side width of the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000475","type":"entry-dictionary","title":"Broad neck"},{"container-title":"HP:0000476","author":[{"family":"cystic hygroma of the neck"},{"family":"A cystic lymphatic lesion of the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000476","type":"entry-dictionary","title":"Cystic hygroma"},{"container-title":"HP:0000478","author":[{"family":"abnormal eye"},{"family":"abnormality of the eye"},{"family":"eye disease"},{"family":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000478","type":"entry-dictionary","title":"Abnormality of the eye"},{"container-title":"HP:0000479","author":[{"family":"retina issue"},{"family":"retinal disease"},{"family":"anomaly of the retina"},{"family":"abnormality of the retina"},{"family":"abnormal retina"},{"family":"A structural abnormality of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000479","type":"entry-dictionary","title":"Abnormal retinal morphology"},{"container-title":"HP:0000480","author":[{"family":"A notch or cleft of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000480","type":"entry-dictionary","title":"Retinal coloboma"},{"container-title":"HP:0000481","author":[{"family":"corneal abnormality"},{"family":"cornela disease"},{"family":"abnormality of the cornea"},{"family":"corneal abnormalities"},{"family":"Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000481","type":"entry-dictionary","title":"Abnormal cornea morphology"},{"container-title":"HP:0000482","author":[{"family":"decreased corneal diameter"},{"family":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000482","type":"entry-dictionary","title":"Microcornea"},{"container-title":"HP:0000483","author":[{"family":"A type of astigmatism associated with abnormal curvatures on the anterior and\/or posterior surface of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000483","type":"entry-dictionary","title":"Astigmatism"},{"container-title":"HP:0000484","author":[{"family":"A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000484","type":"entry-dictionary","title":"Hyperopic astigmatism"},{"container-title":"HP:0000485","author":[{"family":"enlarged cornea"},{"family":"macrocornea"},{"family":"anterior megalophthalmos"},{"family":"increased corneal diameter"},{"family":"An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000485","type":"entry-dictionary","title":"Megalocornea"},{"container-title":"HP:0000486","author":[{"family":"heterotropia"},{"family":"squint eyes"},{"family":"cross-eyed"},{"family":"Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000486","type":"entry-dictionary","title":"Strabismus"},{"container-title":"HP:0000487","author":[{"family":"cross-eyed present from birth"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000487","type":"entry-dictionary","title":"Congenital strabismus"},{"container-title":"HP:0000488","author":[{"family":"noninflammatory retina disease"},{"family":"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000488","type":"entry-dictionary","title":"Retinopathy"},{"container-title":"HP:0000490","author":[{"family":"ocular depression"},{"family":"sunken eyes"},{"family":"enophthalmos"},{"family":"deeply set eye"},{"family":"deep set eye"},{"family":"deep-set eyes"},{"family":"An eye that is more deeply recessed into the plane of the face than is typical."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000490","type":"entry-dictionary","title":"Deeply set eye"},{"container-title":"HP:0000491","author":[{"family":"corneal inflammation"},{"family":"Inflammation of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000491","type":"entry-dictionary","title":"Keratitis"},{"container-title":"HP:0000492","author":[{"family":"abnormality of the eyelids"},{"family":"An abnormality of the eyelids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000492","type":"entry-dictionary","title":"Abnormal eyelid morphology"},{"container-title":"HP:0000493","author":[{"family":"abnormality of the fovea"},{"family":"An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000493","type":"entry-dictionary","title":"Abnormal foveal morphology"},{"container-title":"HP:0000494","author":[{"family":"antimongoloid slanted palpebral fissures"},{"family":"downward-slanting palpebral fissures"},{"family":"down-slanting palpebral fissures"},{"family":"downward slanting palpebral fissures"},{"family":"palpebral fissures down-slanted"},{"family":"downslanting palpebral fissures"},{"family":"down slanting palpebral fissures"},{"family":"antimongoloid slant of palpebral fissures"},{"family":"downward slanted palpebral fissures"},{"family":"downward slanting of the opening between the eyelids"},{"family":"antimongoloid eye slant"},{"family":"down-slanted palpebral fissures"},{"family":"The palpebral fissure inclination is more than two standard deviations below the mean."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000494","type":"entry-dictionary","title":"Downslanted palpebral fissures"},{"container-title":"HP:0000495","author":[{"family":"corneal erosions, recurrent"},{"family":"epithelial corneal erosions"},{"family":"recurrent corneal ulcerations"},{"family":"The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000495","type":"entry-dictionary","title":"Recurrent corneal erosions"},{"container-title":"HP:0000496","author":[{"family":"abnormal eye movements"},{"family":"ocular movement abnormalities"},{"family":"eye movement issue"},{"family":"abnormality of eye movement"},{"family":"abnormal eye motility"},{"family":"eye movement abnormalities"},{"family":"abnormal extraocular movements"},{"family":"abnormal motility of the globe of the eye"},{"family":"abnormal movement of the globe of the eye"},{"family":"abnormal ocular movements"},{"family":"oculomotor abnormalities"},{"family":"An abnormality in voluntary or involuntary eye movements or their control."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000496","type":"entry-dictionary","title":"Abnormality of eye movement"},{"container-title":"HP:0000497","author":[{"family":"Globe retraction and deviation on abduction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000497","type":"entry-dictionary","title":"Globe retraction and deviation on abduction"},{"container-title":"HP:0000498","author":[{"family":"inflammation of eyelids"},{"family":"cellulitis of eyelids"},{"family":"Inflammation of the eyelids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000498","type":"entry-dictionary","title":"Blepharitis"},{"container-title":"HP:0000499","author":[{"family":"abnormal eyelashes"},{"family":"abnormality of the eyelashes"},{"family":"eyelash abnormality"},{"family":"An abnormality of the eyelashes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000499","type":"entry-dictionary","title":"Abnormality of the eyelashes"},{"container-title":"HP:0000501","author":[{"family":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000501","type":"entry-dictionary","title":"Glaucoma"},{"container-title":"HP:0000502","author":[{"family":"An abnormality of the conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000502","type":"entry-dictionary","title":"Abnormality of the conjunctiva"},{"container-title":"HP:0000503","author":[{"family":"The presence of an increased number of twists and turns of the conjunctival blood vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000503","type":"entry-dictionary","title":"Tortuosity of conjunctival vessels"},{"container-title":"HP:0000504","author":[{"family":"vision issue"},{"family":"abnormality of sight"},{"family":"abnormality of vision"},{"family":"Abnormality of eyesight (visual perception)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000504","type":"entry-dictionary","title":"Abnormality of vision"},{"container-title":"HP:0000505","author":[{"family":"visual impairment"},{"family":"loss of eyesight"},{"family":"impaired vision"},{"family":"poor vision"},{"family":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000505","type":"entry-dictionary","title":"Visual impairment"},{"container-title":"HP:0000506","author":[{"family":"corners of eye widely separated"},{"family":"dystopia canthorum"},{"family":"increased intercanthal distance"},{"family":"increased distance between medial canthi"},{"family":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000506","type":"entry-dictionary","title":"Telecanthus"},{"container-title":"HP:0000508","author":[{"family":"blepharoptosis"},{"family":"drooping upper eyelid"},{"family":"eye drop"},{"family":"eyelid ptosis"},{"family":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000508","type":"entry-dictionary","title":"Ptosis"},{"container-title":"HP:0000509","author":[{"family":"conjunctivitis, recurrent"},{"family":"Inflammation of the conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000509","type":"entry-dictionary","title":"Conjunctivitis"},{"container-title":"HP:0000510","author":[{"family":"rod cone dystrophy"},{"family":"retinitis pigmentosa"},{"family":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000510","type":"entry-dictionary","title":"Rod-cone dystrophy"},{"container-title":"HP:0000511","author":[{"family":"vertical gaze palsy"},{"family":"A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000511","type":"entry-dictionary","title":"Vertical supranuclear gaze palsy"},{"container-title":"HP:0000512","author":[{"family":"abnormal electroretinography"},{"family":"erg abnormal"},{"family":"abnormal erg"},{"family":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000512","type":"entry-dictionary","title":"Abnormal electroretinogram"},{"container-title":"HP:0000514","author":[{"family":"slow saccades"},{"family":"slow visual tracking"},{"family":"slow eye movements"},{"family":"An abnormally slow velocity of the saccadic eye movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000514","type":"entry-dictionary","title":"Slow saccadic eye movements"},{"container-title":"HP:0000517","author":[{"family":"lens disease"},{"family":"lens issue"},{"family":"abnormality of the lens"},{"family":"An abnormality of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000517","type":"entry-dictionary","title":"Abnormality of the lens"},{"container-title":"HP:0000518","author":[{"family":"cloudy lens"},{"family":"lens opacities"},{"family":"cataracts"},{"family":"lens opacity"},{"family":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000518","type":"entry-dictionary","title":"Cataract"},{"container-title":"HP:0000519","author":[{"family":"cataracts, lenticular, bilateral"},{"family":"congenital cataracts, bilateral"},{"family":"cataract, congenital"},{"family":"bilateral congenital cataracts"},{"family":"bilateral cataracts"},{"family":"A congenital cataract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000519","type":"entry-dictionary","title":"Congenital cataract"},{"container-title":"HP:0000520","author":[{"family":"protrusio bulbi"},{"family":"prominent eyes"},{"family":"bulging eye"},{"family":"prominent globes"},{"family":"eyeballs bulging out"},{"family":"ocular proptosis"},{"family":"protruding eyes"},{"family":"anterior bulging of the globe of eye"},{"family":"exophthalmos"},{"family":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000520","type":"entry-dictionary","title":"Proptosis"},{"container-title":"HP:0000522","author":[{"family":"absence of tears in the eyes"},{"family":"absent lacrimal fluids"},{"family":"absent tear secretion"},{"family":"Absence of tear secretion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000522","type":"entry-dictionary","title":"Alacrima"},{"container-title":"HP:0000523","author":[{"family":"subcapsular lenticular cataracts"},{"family":"subcapsular opacities"},{"family":"subcapsular cataracts"},{"family":"A cataract that affects the region of the lens directly beneath the capsule of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000523","type":"entry-dictionary","title":"Subcapsular cataract"},{"container-title":"HP:0000524","author":[{"family":"telangiectasia, conjunctival"},{"family":"conjunctival telangiectases"},{"family":"The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000524","type":"entry-dictionary","title":"Conjunctival telangiectasia"},{"container-title":"HP:0000525","author":[{"family":"abnormality of the iris"},{"family":"An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000525","type":"entry-dictionary","title":"Abnormality iris morphology"},{"container-title":"HP:0000526","author":[{"family":"absent iris"},{"family":"Congenital absence of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000526","type":"entry-dictionary","title":"Aniridia"},{"container-title":"HP:0000527","author":[{"family":"ciliary trichomegaly"},{"family":"unusually long eyelashes"},{"family":"increased length of eyelashes"},{"family":"Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000527","type":"entry-dictionary","title":"Long eyelashes"},{"container-title":"HP:0000528","author":[{"family":"missing eyeball"},{"family":"failure of development of eyeball"},{"family":"absence of globes of eyes"},{"family":"ocular absence"},{"family":"missing globe of eye"},{"family":"absence of eyeballs"},{"family":"no eyeball"},{"family":"no globe of eye"},{"family":"clinical anophthalmia, unilateral\/bilateral"},{"family":"anophthalmia, clinical"},{"family":"Absence of the globe or eyeball."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000528","type":"entry-dictionary","title":"Anophthalmia"},{"container-title":"HP:0000529","author":[{"family":"slowly progressive visual loss"},{"family":"progressive vision loss"},{"family":"visual loss, progressive"},{"family":"decreased visual acuity, progressive"},{"family":"loss of visual acuity"},{"family":"vision loss, progressive"},{"family":"progressive loss of vision"},{"family":"progressive visual acuity loss"},{"family":"progressive visual impairment"},{"family":"A reduction of previously attained ability to see."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000529","type":"entry-dictionary","title":"Progressive visual loss"},{"container-title":"HP:0000531","author":[{"family":"corneal deposits"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000531","type":"entry-dictionary","title":"Corneal crystals"},{"container-title":"HP:0000532","author":[{"family":"chorioretinal abnormality"},{"family":"An abnormality of the choroid and retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000532","type":"entry-dictionary","title":"Abnormal chorioretinal morphology"},{"container-title":"HP:0000533","author":[{"family":"chorioretinal thinning"},{"family":"Atrophy of the choroid and retinal layers of the fundus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000533","type":"entry-dictionary","title":"Chorioretinal atrophy"},{"container-title":"HP:0000534","author":[{"family":"abnormality of the eyebrow"},{"family":"An abnormality of the eyebrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000534","type":"entry-dictionary","title":"Abnormal eyebrow morphology"},{"container-title":"HP:0000535","author":[{"family":"thin, sparse eyebrows"},{"family":"sparse and thin eyebrow"},{"family":"Decreased density\/number and\/or decreased diameter of eyebrow hairs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000535","type":"entry-dictionary","title":"Sparse and thin eyebrow"},{"container-title":"HP:0000537","author":[{"family":"A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000537","type":"entry-dictionary","title":"Epicanthus inversus"},{"container-title":"HP:0000538","author":[{"family":"Apparent optic disc swelling in the absence of increased intracranial pressure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000538","type":"entry-dictionary","title":"Pseudopapilledema"},{"container-title":"HP:0000539","author":[{"family":"An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000539","type":"entry-dictionary","title":"Abnormality of refraction"},{"container-title":"HP:0000540","author":[{"family":"farsightedness"},{"family":"long-sightedness"},{"family":"hyperopia"},{"family":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000540","type":"entry-dictionary","title":"Hypermetropia"},{"container-title":"HP:0000541","author":[{"family":"retinal detachment"},{"family":"detached retina"},{"family":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000541","type":"entry-dictionary","title":"Retinal detachment"},{"container-title":"HP:0000542","author":[{"family":"Reduced ability to move the eye in the direction of the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000542","type":"entry-dictionary","title":"Impaired ocular adduction"},{"container-title":"HP:0000543","author":[{"family":"disc pallor"},{"family":"optic disk pallor"},{"family":"pale optic disk"},{"family":"pale optic discs"},{"family":"A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000543","type":"entry-dictionary","title":"Optic disc pallor"},{"container-title":"HP:0000544","author":[{"family":"ophthalmoplegia externa"},{"family":"progressive paralysis or weakness of muscles of eye movement"},{"family":"cpeo"},{"family":"chronic progressive external ophthalmoplegia"},{"family":"progressive paralysis or weakness of muscles of eye motility"},{"family":"Paralysis of the external ocular muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000544","type":"entry-dictionary","title":"External ophthalmoplegia"},{"container-title":"HP:0000545","author":[{"family":"nearsightedness"},{"family":"close sighted"},{"family":"near sightedness"},{"family":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000545","type":"entry-dictionary","title":"Myopia"},{"container-title":"HP:0000546","author":[{"family":"retina degeneration"},{"family":"A nonspecific term denoting degeneration of the retinal pigment epithelium and\/or retinal photoreceptor cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000546","type":"entry-dictionary","title":"Retinal degeneration"},{"container-title":"HP:0000547","author":[{"family":"retinotapetal degeneration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000547","type":"entry-dictionary","title":"Tapetoretinal degeneration"},{"container-title":"HP:0000548","author":[{"family":"cone-rod retinal dystrophy"},{"family":"cone dystrophy"},{"family":"cone rod dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000548","type":"entry-dictionary","title":"Cone\/cone-rod dystrophy"},{"container-title":"HP:0000549","author":[{"family":"disconjugate eye movements"},{"family":"Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000549","type":"entry-dictionary","title":"Abnormal conjugate eye movement"},{"container-title":"HP:0000550","author":[{"family":"abolished electroretinogram"},{"family":"extinction of electroretinogram"},{"family":"undetectable erg"},{"family":"absent electroretinogram"},{"family":"extinguished electroretinogram"},{"family":"no light-evoked response on electroretinogram"},{"family":"Lack of any response to stimulation upon electroretinography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000550","type":"entry-dictionary","title":"Undetectable electroretinogram"},{"container-title":"HP:0000551","author":[{"family":"abnormality of colour vision"},{"family":"loss in color vision"},{"family":"color vision defect, severe"},{"family":"abnormality of color vision"},{"family":"abnormal color vision"},{"family":"color vision defects"},{"family":"An anomaly in the ability to discriminate between or recognize colors."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000551","type":"entry-dictionary","title":"Abnormality of color vision"},{"container-title":"HP:0000552","author":[{"family":"blue\/yellow color vision defect"},{"family":"blue-yellow dyschromatopsia"},{"family":"blue yellow color blindness"},{"family":"dyschromatopsia, blue-yellow"},{"family":"Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000552","type":"entry-dictionary","title":"Tritanomaly"},{"container-title":"HP:0000553","author":[{"family":"An abnormality of the uvea, the vascular layer of the eyeball."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000553","type":"entry-dictionary","title":"Abnormality of the uvea"},{"container-title":"HP:0000554","author":[{"family":"Inflammation of one or all portions of the uveal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000554","type":"entry-dictionary","title":"Uveitis"},{"container-title":"HP:0000555","author":[{"family":"leukokoria"},{"family":"white pupillary reflex"},{"family":"An abnormal white reflection from the pupil rather than the usual black reflection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000555","type":"entry-dictionary","title":"Leukocoria"},{"container-title":"HP:0000556","author":[{"family":"Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000556","type":"entry-dictionary","title":"Retinal dystrophy"},{"container-title":"HP:0000557","author":[{"family":"enlarged eyeball"},{"family":"Diffusely large eye (with megalocornea) associated with glaucoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000557","type":"entry-dictionary","title":"Buphthalmos"},{"container-title":"HP:0000558","author":[{"family":"A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000558","type":"entry-dictionary","title":"Rieger anomaly"},{"container-title":"HP:0000559","author":[{"family":"Corneal scarring"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000559","type":"entry-dictionary","title":"Corneal scarring"},{"container-title":"HP:0000561","author":[{"family":"atrichia of eyelashes"},{"family":"absent eyelashes"},{"family":"failure of development of eyelashes"},{"family":"agenesis of eyelashes"},{"family":"aplasia of eyelashes"},{"family":"Lack of eyelashes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000561","type":"entry-dictionary","title":"Absent eyelashes"},{"container-title":"HP:0000563","author":[{"family":"bulging cornea"},{"family":"conical cornea"},{"family":"A cone-shaped deformity of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000563","type":"entry-dictionary","title":"Keratoconus"},{"container-title":"HP:0000564","author":[{"family":"unopened tear duct"},{"family":"imperforate nasolacrimal ducts"},{"family":"nasolacrimal duct atresia"},{"family":"A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000564","type":"entry-dictionary","title":"Lacrimal duct atresia"},{"container-title":"HP:0000565","author":[{"family":"inward turning cross eyed"},{"family":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000565","type":"entry-dictionary","title":"Esotropia"},{"container-title":"HP:0000567","author":[{"family":"choroid coloboma"},{"family":"coloboma of choroid"},{"family":"choroidal coloboma"},{"family":"choroidoretinal coloboma"},{"family":"Absence of a region of the retina, retinal pigment epithelium, and choroid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000567","type":"entry-dictionary","title":"Chorioretinal coloboma"},{"container-title":"HP:0000568","author":[{"family":"abnormally small globe of eye"},{"family":"microphthalmos"},{"family":"decreased size of eyeball"},{"family":"abnormally small eyeball"},{"family":"decreased size of globe of eye"},{"family":"nanophthalmos"},{"family":"A developmental anomaly characterized by abnormal smallness of one or both eyes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000568","type":"entry-dictionary","title":"Microphthalmia"},{"container-title":"HP:0000570","author":[{"family":"impaired saccades"},{"family":"An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000570","type":"entry-dictionary","title":"Abnormality of saccadic eye movements"},{"container-title":"HP:0000571","author":[{"family":"Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000571","type":"entry-dictionary","title":"Hypometric saccades"},{"container-title":"HP:0000572","author":[{"family":"loss of vision"},{"family":"vision loss"},{"family":"visual loss"},{"family":"Loss of visual acuity (implying that vision was better at a certain timepoint in life - otherwise the term reduced visual acuity should be used (or a subclass of that)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000572","type":"entry-dictionary","title":"Visual loss"},{"container-title":"HP:0000573","author":[{"family":"retinal bleeding"},{"family":"retinal hemorrhages"},{"family":"Hemorrhage occurring within the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000573","type":"entry-dictionary","title":"Retinal hemorrhage"},{"container-title":"HP:0000574","author":[{"family":"prominent eyebrows"},{"family":"dense eyebrow"},{"family":"heavy eyebrows"},{"family":"bushy eyebrows"},{"family":"thick eyebrows"},{"family":"hypertrichosis of the eyebrows"},{"family":"Increased density\/number and\/or increased diameter of eyebrow hairs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000574","type":"entry-dictionary","title":"Thick eyebrow"},{"container-title":"HP:0000575","author":[{"family":"blind spot"},{"family":"Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000575","type":"entry-dictionary","title":"Scotoma"},{"container-title":"HP:0000576","author":[{"family":"A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000576","type":"entry-dictionary","title":"Centrocecal scotoma"},{"container-title":"HP:0000577","author":[{"family":"outward facing eye ball"},{"family":"A form of strabismus with one or both eyes deviated outward."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000577","type":"entry-dictionary","title":"Exotropia"},{"container-title":"HP:0000579","author":[{"family":"lacrimal duct obstruction"},{"family":"Blockage of the lacrimal duct."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000579","type":"entry-dictionary","title":"Nasolacrimal duct obstruction"},{"container-title":"HP:0000580","author":[{"family":"retinal pigmentary degeneration"},{"family":"pigmentary retinal degeneration"},{"family":"pigmentary retinal deposits"},{"family":"retinal pigment clumping"},{"family":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000580","type":"entry-dictionary","title":"Pigmentary retinopathy"},{"container-title":"HP:0000581","author":[{"family":"decreased width of palpebral fissure"},{"family":"narrow opening between the eyelids"},{"family":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000581","type":"entry-dictionary","title":"Blepharophimosis"},{"container-title":"HP:0000582","author":[{"family":"upward slanted palpebral fissures"},{"family":"upward slanting of the opening between the eyelids"},{"family":"upslanted palpebral fissures"},{"family":"upward slanting of palpebral fissures"},{"family":"mongoloid slant"},{"family":"upward slanting palpebral fissures"},{"family":"upslanting palpebral fissures"},{"family":"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000582","type":"entry-dictionary","title":"Upslanted palpebral fissure"},{"container-title":"HP:0000584","author":[{"family":"Punctate corneal epithelial erosions"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000584","type":"entry-dictionary","title":"Punctate corneal epithelial erosions"},{"container-title":"HP:0000585","author":[{"family":"calcific band keratopathy"},{"family":"An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000585","type":"entry-dictionary","title":"Band keratopathy"},{"container-title":"HP:0000586","author":[{"family":"decreased depth of orbits"},{"family":"small shallow orbits"},{"family":"shallow eye sockets"},{"family":"decreased depth of eye sockets"},{"family":"Reduced depth of the orbits associated with prominent-appearing ocular globes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000586","type":"entry-dictionary","title":"Shallow orbits"},{"container-title":"HP:0000587","author":[{"family":"optic nerve abnormalities"},{"family":"optic nerve issue"},{"family":"Abnormality of the optic nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000587","type":"entry-dictionary","title":"Abnormality of the optic nerve"},{"container-title":"HP:0000588","author":[{"family":"coloboma of optic nerve"},{"family":"optic disk coloboma"},{"family":"A cleft of the optic nerve that extends inferiorly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000588","type":"entry-dictionary","title":"Optic nerve coloboma"},{"container-title":"HP:0000589","author":[{"family":"ocular colobomas"},{"family":"notched pupil"},{"family":"A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000589","type":"entry-dictionary","title":"Coloboma"},{"container-title":"HP:0000590","author":[{"family":"external ophthalmoplegia, progressive"},{"family":"Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000590","type":"entry-dictionary","title":"Progressive external ophthalmoplegia"},{"container-title":"HP:0000591","author":[{"family":"abnormality of the outer white part of eyeball"},{"family":"abnormality of the sclera"},{"family":"An abnormality of the sclera."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000591","type":"entry-dictionary","title":"Abnormal sclera morphology"},{"container-title":"HP:0000592","author":[{"family":"bluish sclerae"},{"family":"blue outer white part of eyeball"},{"family":"blue sclera"},{"family":"An abnormal bluish coloration of the sclera."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000592","type":"entry-dictionary","title":"Blue sclerae"},{"container-title":"HP:0000593","author":[{"family":"anterior chamber anomalies"},{"family":"abnormality of the anterior chamber"},{"family":"ocular anterior chamber abnormality"},{"family":"Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000593","type":"entry-dictionary","title":"Abnormal anterior chamber morphology"},{"container-title":"HP:0000594","author":[{"family":"Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000594","type":"entry-dictionary","title":"Shallow anterior chamber"},{"container-title":"HP:0000597","author":[{"family":"extraocular muscle paralysis"},{"family":"weakness of extraocular eye movement"},{"family":"extraocular muscle palsy"},{"family":"Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000597","type":"entry-dictionary","title":"Ophthalmoparesis"},{"container-title":"HP:0000598","author":[{"family":"ear anomaly"},{"family":"abnormality of the ear"},{"family":"An abnormality of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000598","type":"entry-dictionary","title":"Abnormality of the ear"},{"container-title":"HP:0000599","author":[{"family":"abnormality of the frontal hairline"},{"family":"abnormality of hairline at front of head"},{"family":"An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000599","type":"entry-dictionary","title":"Abnormality of the frontal hairline"},{"container-title":"HP:0000600","author":[{"family":"An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000600","type":"entry-dictionary","title":"Abnormality of the pharynx"},{"container-title":"HP:0000601","author":[{"family":"ocular hypotelorism"},{"family":"decreased distance between eye sockets"},{"family":"closely spaced eyes"},{"family":"decreased interpupillary distance"},{"family":"decreased orbital separation"},{"family":"abnormally close eyes"},{"family":"decreased distance between eyes"},{"family":"Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000601","type":"entry-dictionary","title":"Hypotelorism"},{"container-title":"HP:0000602","author":[{"family":"paralysis of extraocular eye movement"},{"family":"eye muscle paralysis"},{"family":"Paralysis of one or more extraocular muscles that are responsible for eye movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000602","type":"entry-dictionary","title":"Ophthalmoplegia"},{"container-title":"HP:0000603","author":[{"family":"blind spot located at fixation point"},{"family":"central scotomata"},{"family":"An area of depressed vision located at the point of fixation and that interferes with central vision."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000603","type":"entry-dictionary","title":"Central scotoma"},{"container-title":"HP:0000605","author":[{"family":"supranuclear gaze paralysis"},{"family":"A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000605","type":"entry-dictionary","title":"Supranuclear gaze palsy"},{"container-title":"HP:0000606","author":[{"family":"malformation of the periorbital region"},{"family":"deformity of the periorbital region"},{"family":"anomaly of the periorbital region"},{"family":"abnormality of the region around the eye socket"},{"family":"An abnormality of the region situated around the orbit of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000606","type":"entry-dictionary","title":"Abnormality of the periorbital region"},{"container-title":"HP:0000607","author":[{"family":"periorbital rhytids"},{"family":"excess periorbital skin wrinkling"},{"family":"wrinkles around the eyes"},{"family":"periorbital wrinkling"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000607","type":"entry-dictionary","title":"Periorbital wrinkles"},{"container-title":"HP:0000608","author":[{"family":"pigmented macular degeneration"},{"family":"A nonspecific term denoting degeneration of the retinal pigment epithelium and\/or retinal photoreceptor cells of the macula lutea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000608","type":"entry-dictionary","title":"Macular degeneration"},{"container-title":"HP:0000609","author":[{"family":"hypoplastic optic nerves"},{"family":"underdeveloped optic nerves"},{"family":"Underdevelopment of the optic nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000609","type":"entry-dictionary","title":"Optic nerve hypoplasia"},{"container-title":"HP:0000610","author":[{"family":"abnormality of the choroid"},{"family":"choroid disease"},{"family":"Any structural abnormality of the choroid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000610","type":"entry-dictionary","title":"Abnormal choroid morphology"},{"container-title":"HP:0000612","author":[{"family":"cat eye"},{"family":"coloboma of iris"},{"family":"keyhole iris"},{"family":"coloboma of the iris"},{"family":"A coloboma of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000612","type":"entry-dictionary","title":"Iris coloboma"},{"container-title":"HP:0000613","author":[{"family":"extreme sensitivity of the eyes to light"},{"family":"photodysphoria"},{"family":"light hypersensitivity"},{"family":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000613","type":"entry-dictionary","title":"Photophobia"},{"container-title":"HP:0000614","author":[{"family":"abnormality of the nasolacrimal system"},{"family":"An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000614","type":"entry-dictionary","title":"Abnormal morphology of the nasolacrimal system"},{"container-title":"HP:0000615","author":[{"family":"abnormality of the pupil"},{"family":"abnormal pupillary morphology"},{"family":"pupillary abnormalities"},{"family":"pupillary abnormality"},{"family":"An abnormality of the pupil."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000615","type":"entry-dictionary","title":"Abnormal pupil morphology"},{"container-title":"HP:0000616","author":[{"family":"constricted pupils"},{"family":"pupillary constriction"},{"family":"Abnormal (non-physiological) constriction of the pupil."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000616","type":"entry-dictionary","title":"Miosis"},{"container-title":"HP:0000617","author":[{"family":"disrupted ocular pursuit movements"},{"family":"abnormal smooth pursuits"},{"family":"irregular visual pursuit movements"},{"family":"impaired smooth pursuit ocular movements"},{"family":"An abnormality of eye movement characterized by impaired smooth-pursuit eye movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000617","type":"entry-dictionary","title":"Abnormality of ocular smooth pursuit"},{"container-title":"HP:0000618","author":[{"family":"legal blindness"},{"family":"Blindness is the condition of lacking visual perception due to physiological or neurological factors."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000618","type":"entry-dictionary","title":"Blindness"},{"container-title":"HP:0000619","author":[{"family":"convergence insufficiency"},{"family":"Reduced ability to turn the eyes inward in order to focus on a nearby object."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000619","type":"entry-dictionary","title":"Impaired convergence"},{"container-title":"HP:0000620","author":[{"family":"dacrocystitis"},{"family":"infection of the lacrimal sac"},{"family":"Inflammation of the nasolacrimal sac."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000620","type":"entry-dictionary","title":"Dacryocystitis"},{"container-title":"HP:0000621","author":[{"family":"eyelid turned in"},{"family":"inverted eyelid"},{"family":"eyelid folded in"},{"family":"An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000621","type":"entry-dictionary","title":"Entropion"},{"container-title":"HP:0000622","author":[{"family":"blurred vision"},{"family":"Lack of sharpness of vision resulting in the inability to see fine detail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000622","type":"entry-dictionary","title":"Blurred vision"},{"container-title":"HP:0000623","author":[{"family":"A vertical gaze palsy with inability to direct the gaze of the eyes downwards."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000623","type":"entry-dictionary","title":"Supranuclear ophthalmoplegia"},{"container-title":"HP:0000625","author":[{"family":"cleft eyelid"},{"family":"eyelid coloboma"},{"family":"notched eyelid"},{"family":"full thickness defect of the eyelid"},{"family":"A short discontinuity of the margin of the lower or upper eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000625","type":"entry-dictionary","title":"Eyelid coloboma"},{"container-title":"HP:0000627","author":[{"family":"embryotoxon"},{"family":"A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000627","type":"entry-dictionary","title":"Posterior embryotoxon"},{"container-title":"HP:0000629","author":[{"family":"periorbital puffiness"},{"family":"fullness around the eyes"},{"family":"Increase in periorbital soft tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000629","type":"entry-dictionary","title":"Periorbital fullness"},{"container-title":"HP:0000630","author":[{"family":"abnormality of retinal arteries"},{"family":"retinal arterial abnormality"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000630","type":"entry-dictionary","title":"Abnormal retinal artery morphology"},{"container-title":"HP:0000631","author":[{"family":"retinal artery tortuousity"},{"family":"The presence of an increased number of twists and turns of the retinal artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000631","type":"entry-dictionary","title":"Retinal arterial tortuosity"},{"container-title":"HP:0000632","author":[{"family":"abnormality of tear production"},{"family":"Abnormality of tear production."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000632","type":"entry-dictionary","title":"Lacrimation abnormality"},{"container-title":"HP:0000633","author":[{"family":"decreased tear secretion"},{"family":"Abnormally decreased lacrimation, that is, reduced ability to produce tears."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000633","type":"entry-dictionary","title":"Decreased lacrimation"},{"container-title":"HP:0000634","author":[{"family":"An impaired ability of the eye to move in the outward direction (towards the side of the head)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000634","type":"entry-dictionary","title":"Impaired ocular abduction"},{"container-title":"HP:0000635","author":[{"family":"blue eyes"},{"family":"A markedly blue coloration of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000635","type":"entry-dictionary","title":"Blue irides"},{"container-title":"HP:0000636","author":[{"family":"notched upper eyelid"},{"family":"coloboma of the upper eyelid"},{"family":"full thickness defect of the upper eyelid"},{"family":"cleft upper eyelid"},{"family":"upper eyelid colobomas"},{"family":"A short discontinuity of the margin of the upper eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000636","type":"entry-dictionary","title":"Upper eyelid coloboma"},{"container-title":"HP:0000637","author":[{"family":"long opening between the eyelids"},{"family":"wide opening between the eyelids"},{"family":"wide palpebral fissures"},{"family":"broad opening between the eyelids"},{"family":"broad palpebral fissure"},{"family":"long palpebral fissures"},{"family":"Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000637","type":"entry-dictionary","title":"Long palpebral fissure"},{"container-title":"HP:0000639","author":[{"family":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000639","type":"entry-dictionary","title":"Nystagmus"},{"container-title":"HP:0000640","author":[{"family":"Nystagmus made apparent by looking to the right or to the left."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000640","type":"entry-dictionary","title":"Gaze-evoked nystagmus"},{"container-title":"HP:0000641","author":[{"family":"dysmetric eye movements"},{"family":"dysmetric eye saccades"},{"family":"uncoordinated eye movement"},{"family":"The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000641","type":"entry-dictionary","title":"Dysmetric saccades"},{"container-title":"HP:0000642","author":[{"family":"red\/green color vision defect"},{"family":"red green color blindness"},{"family":"dyschromatopsia with red-green confusion"},{"family":"Difficulty with discriminating red and green hues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000642","type":"entry-dictionary","title":"Red-green dyschromatopsia"},{"container-title":"HP:0000643","author":[{"family":"eyelid spasm"},{"family":"eyelid twitching"},{"family":"spontaneous closure of eyelid"},{"family":"involuntary closure of eyelid"},{"family":"A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000643","type":"entry-dictionary","title":"Blepharospasm"},{"container-title":"HP:0000646","author":[{"family":"lazy eye"},{"family":"wandering eyes"},{"family":"Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000646","type":"entry-dictionary","title":"Amblyopia"},{"container-title":"HP:0000647","author":[{"family":"A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000647","type":"entry-dictionary","title":"Sclerocornea"},{"container-title":"HP:0000648","author":[{"family":"optic-nerve degeneration"},{"family":"optic nerve atrophy"},{"family":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000648","type":"entry-dictionary","title":"Optic atrophy"},{"container-title":"HP:0000649","author":[{"family":"abnormal visual evoked potential"},{"family":"vep abnormalities"},{"family":"abnormal vision evoked potentials"},{"family":"abnormal visual evoked responses"},{"family":"abnormal visual-evoked potentials"},{"family":"An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000649","type":"entry-dictionary","title":"Abnormality of visual evoked potentials"},{"container-title":"HP:0000650","author":[{"family":"Abnormal amplitude of pattern reversal visual evoked potentials"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000650","type":"entry-dictionary","title":"Abnormal amplitude of pattern reversal visual evoked potentials"},{"container-title":"HP:0000651","author":[{"family":"double vision"},{"family":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000651","type":"entry-dictionary","title":"Diplopia"},{"container-title":"HP:0000652","author":[{"family":"cleft lower eyelid"},{"family":"notched lower eyelid"},{"family":"full thickness defect of the lower eyelid"},{"family":"lower lid coloboma"},{"family":"coloboma of lower eyelid"},{"family":"A short discontinuity of the margin of the lower eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000652","type":"entry-dictionary","title":"Lower eyelid coloboma"},{"container-title":"HP:0000653","author":[{"family":"sparse eyelashes"},{"family":"scanty eyelashes"},{"family":"thin eyelashes"},{"family":"hypotrichosis of eyelashes"},{"family":"scant eyelashes"},{"family":"partial absence of eyelashes"},{"family":"Decreased density\/number of eyelashes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000653","type":"entry-dictionary","title":"Sparse eyelashes"},{"container-title":"HP:0000654","author":[{"family":"reduced erg"},{"family":"decreased electroretinogram amplitude"},{"family":"decreased electroretinogram response"},{"family":"decreased erg amplitude"},{"family":"reduced electroretinogram"},{"family":"reduced or abolished electroretinogram"},{"family":"decreased amplitudes on flash visual electroretinogram"},{"family":"flattened or absent electroretinogram"},{"family":"Descreased amplitude of eletrical response upon electroretinography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000654","type":"entry-dictionary","title":"Decreased light- and dark-adapted electroretinogram amplitude"},{"container-title":"HP:0000655","author":[{"family":"Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000655","type":"entry-dictionary","title":"Vitreoretinal degeneration"},{"container-title":"HP:0000656","author":[{"family":"eyelid folded out"},{"family":"everted eyelid"},{"family":"eyelid turned out"},{"family":"An outward turning (eversion) or rotation of the eyelid margin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000656","type":"entry-dictionary","title":"Ectropion"},{"container-title":"HP:0000657","author":[{"family":"ocular motor apraxia"},{"family":"defective or absent horizontal voluntary eye movements"},{"family":"Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000657","type":"entry-dictionary","title":"Oculomotor apraxia"},{"container-title":"HP:0000658","author":[{"family":"difficulty opening the eyelids"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000658","type":"entry-dictionary","title":"Eyelid apraxia"},{"container-title":"HP:0000659","author":[{"family":"A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000659","type":"entry-dictionary","title":"Peters anomaly"},{"container-title":"HP:0000660","author":[{"family":"A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000660","type":"entry-dictionary","title":"Lipemia retinalis"},{"container-title":"HP:0000661","author":[{"family":"Palpebral fissure narrowing on adduction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000661","type":"entry-dictionary","title":"Palpebral fissure narrowing on adduction"},{"container-title":"HP:0000662","author":[{"family":"night-blindness"},{"family":"poor night vision"},{"family":"night blindness"},{"family":"difficulties with night vision"},{"family":"Inability to see well at night or in poor light."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000662","type":"entry-dictionary","title":"Nyctalopia"},{"container-title":"HP:0000664","author":[{"family":"synophris"},{"family":"monobrow"},{"family":"unibrow"},{"family":"Meeting of the medial eyebrows in the midline."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000664","type":"entry-dictionary","title":"Synophrys"},{"container-title":"HP:0000666","author":[{"family":"nystagmus, horizontal"},{"family":"Nystagmus consisting of horizontal to-and-fro eye movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000666","type":"entry-dictionary","title":"Horizontal nystagmus"},{"container-title":"HP:0000667","author":[{"family":"Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000667","type":"entry-dictionary","title":"Phthisis bulbi"},{"container-title":"HP:0000668","author":[{"family":"failure of development of between one and six teeth"},{"family":"missing between one and six teeth"},{"family":"A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000668","type":"entry-dictionary","title":"Hypodontia"},{"container-title":"HP:0000670","author":[{"family":"dental decay"},{"family":"tooth decay"},{"family":"cariosity of teeth"},{"family":"rotting teeth"},{"family":"early dental caries"},{"family":"tooth cavities"},{"family":"frequent caries"},{"family":"dental cavities"},{"family":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000670","type":"entry-dictionary","title":"Carious teeth"},{"container-title":"HP:0000674","author":[{"family":"complete agenesis of all teeth"},{"family":"failure of development of all teeth"},{"family":"missing all teeth"},{"family":"complete anodontia"},{"family":"total anodontia"},{"family":"anodontia vera"},{"family":"total absence of all teeth"},{"family":"dental agenesis"},{"family":"The congenital absence of all teeth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000674","type":"entry-dictionary","title":"Anodontia"},{"container-title":"HP:0000675","author":[{"family":"increased size of permanent maxillary central incisor"},{"family":"long maxillary central incisors"},{"family":"prominent upper incisors"},{"family":"hyperplasia of permanent maxillary central incisor"},{"family":"increased width of permanent maxillary central incisor"},{"family":"increased size of permanent upper central incisor"},{"family":"increased width of permanent upper central incisor"},{"family":"large permanent maxillary central incisor"},{"family":"large permanent upper central incisor"},{"family":"prominent, protruding upper incisors"},{"family":"hypertrophy of permanent maxillary central incisor"},{"family":"Increased size of the maxillary central secondary incisor tooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000675","type":"entry-dictionary","title":"Macrodontia of permanent maxillary central incisor"},{"container-title":"HP:0000676","author":[{"family":"An abnormality of the Incisor tooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000676","type":"entry-dictionary","title":"Abnormality of the incisor"},{"container-title":"HP:0000677","author":[{"family":"partial anodontia"},{"family":"missing more than six teeth"},{"family":"number of teeth decreased by more than six"},{"family":"failure of development of more than six teeth"},{"family":"A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000677","type":"entry-dictionary","title":"Oligodontia"},{"container-title":"HP:0000678","author":[{"family":"dental crowding"},{"family":"inadequate arch length for tooth size"},{"family":"tooth size discrepancy"},{"family":"crowded teeth"},{"family":"overcrowding of teeth"},{"family":"dental overcrowding"},{"family":"tooth mass arch size discrepancy"},{"family":"Overlapping teeth within an alveolar ridge."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000678","type":"entry-dictionary","title":"Dental crowding"},{"container-title":"HP:0000679","author":[{"family":"large elongated pulp chamber"},{"family":"taurodontism"},{"family":"Increased volume of dental pulp of permanent molar."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000679","type":"entry-dictionary","title":"Taurodontia"},{"container-title":"HP:0000680","author":[{"family":"late eruption of milk teeth"},{"family":"delayed eruption of deciduous teeth"},{"family":"late eruption of primary teeth"},{"family":"delayed eruption of baby teeth"},{"family":"delayed primary teeth eruption"},{"family":"delayed eruption of milk teeth"},{"family":"late eruption of baby teeth"},{"family":"Delayed tooth eruption affecting the primary dentition."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000680","type":"entry-dictionary","title":"Delayed eruption of primary teeth"},{"container-title":"HP:0000682","author":[{"family":"malformation of dental enamel"},{"family":"abnormal tooth enamel"},{"family":"defective tooth enamel"},{"family":"enamel abnormalities"},{"family":"enamel abnormality"},{"family":"dystrophic tooth enamel"},{"family":"malformation of tooth enamel"},{"family":"An abnormality of the dental enamel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000682","type":"entry-dictionary","title":"Abnormality of dental enamel"},{"container-title":"HP:0000683","author":[{"family":"grayish enamel"},{"family":"gray colored tooth enamel"},{"family":"greyish enamel"},{"family":"gray tooth shade"},{"family":"A grey discoloration of the dental enamel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000683","type":"entry-dictionary","title":"Grayish enamel"},{"container-title":"HP:0000684","author":[{"family":"late eruption of teeth"},{"family":"late tooth eruption"},{"family":"delayed tooth eruption"},{"family":"delayed dental development"},{"family":"delayed dental eruption"},{"family":"eruption, delayed"},{"family":"delayed teeth eruption"},{"family":"delayed eruption of teeth"},{"family":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000684","type":"entry-dictionary","title":"Delayed eruption of teeth"},{"container-title":"HP:0000685","author":[{"family":"hypoplastic teeth"},{"family":"underdevelopment of teeth"},{"family":"decreased size of teeth"},{"family":"Developmental hypoplasia of teeth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000685","type":"entry-dictionary","title":"Hypoplasia of teeth"},{"container-title":"HP:0000687","author":[{"family":"multiple diastemata"},{"family":"generalized dental spacing"},{"family":"wide-spaced teeth"},{"family":"widely-spaced teeth"},{"family":"widely spaced teeth"},{"family":"generalized spacing of teeth"},{"family":"Increased spaces (diastemata) between most of the teeth in the same dental arch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000687","type":"entry-dictionary","title":"Widely spaced teeth"},{"container-title":"HP:0000689","author":[{"family":"angle class 2 malocclusion"},{"family":"malalignment of upper and lower dental arches"},{"family":"bad bite"},{"family":"incorrect relation between upper and lower dental arches"},{"family":"malocclusion of teeth"},{"family":"angle class 3 malocclusion"},{"family":"misalignment of upper and lower dental arches"},{"family":"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000689","type":"entry-dictionary","title":"Dental malocclusion"},{"container-title":"HP:0000690","author":[{"family":"missing upper lateral incisor"},{"family":"missing maxillary lateral incisor"},{"family":"absence of upper lateral incisor"},{"family":"absence of maxillary lateral incisor"},{"family":"absent upper lateral incisors"},{"family":"failure of development of maxillary lateral incisor"},{"family":"Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000690","type":"entry-dictionary","title":"Agenesis of maxillary lateral incisor"},{"container-title":"HP:0000691","author":[{"family":"small teeth"},{"family":"decreased size of tooth"},{"family":"decreased width of tooth"},{"family":"hypotrophic tooth"},{"family":"small tooth"},{"family":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000691","type":"entry-dictionary","title":"Microdontia"},{"container-title":"HP:0000692","author":[{"family":"abnormality of alignment of teeth"},{"family":"abnormal dental position"},{"family":"crooked teeth"},{"family":"malposition of teeth"},{"family":"malpositioned teeth"},{"family":"abnormality of position of teeth"},{"family":"abnormality of teeth spacing"},{"family":"misalignment of teeth"},{"family":"abnormal teeth spacing"},{"family":"malaligned teeth"},{"family":"Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000692","type":"entry-dictionary","title":"Misalignment of teeth"},{"container-title":"HP:0000694","author":[{"family":"teeth with thin dentin and large pulp chambers"},{"family":"teeth with dentinal dysplasia"},{"family":"teeth with type iii dentinogenesis imperfecta"},{"family":"A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000694","type":"entry-dictionary","title":"Shell teeth"},{"container-title":"HP:0000695","author":[{"family":"born with teeth"},{"family":"teeth present at birth"},{"family":"neonatal teeth"},{"family":"Erupted tooth or teeth at birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000695","type":"entry-dictionary","title":"Natal tooth"},{"container-title":"HP:0000696","author":[{"family":"delayed eruption of secondary dentition"},{"family":"delayed eruption of adult teeth"},{"family":"delayed eruption of permanent teeth"},{"family":"delayed eruption of secondary teeth"},{"family":"delayed permanent dentition"},{"family":"Delayed tooth eruption affecting the secondary dentition."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000696","type":"entry-dictionary","title":"Delayed eruption of permanent teeth"},{"container-title":"HP:0000698","author":[{"family":"peg tooth"},{"family":"conical teeth"},{"family":"cone shaped tooth"},{"family":"conoid tooth"},{"family":"peg shaped teeth"},{"family":"peg-shaped teeth"},{"family":"pointed tooth"},{"family":"peg shaped tooth"},{"family":"shark tooth"},{"family":"An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000698","type":"entry-dictionary","title":"Conical tooth"},{"container-title":"HP:0000699","author":[{"family":"diastema of the teeth"},{"family":"gaps between teeth"},{"family":"dental diastasis"},{"family":"dental diastema"},{"family":"diastasis of the teeth"},{"family":"Increased space between two adjacent teeth in the same dental arch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000699","type":"entry-dictionary","title":"Diastema"},{"container-title":"HP:0000700","author":[{"family":"periapical radiolucencies"},{"family":"bone loss around tooth root"},{"family":"periapical granuloma"},{"family":"periapical cyst"},{"family":"periapical radiolucency"},{"family":"dark spot around tooth root on x-ray"},{"family":"periapical lesion"},{"family":"Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000700","type":"entry-dictionary","title":"Periapical bone loss"},{"container-title":"HP:0000703","author":[{"family":"Developmental dysplasia of dentin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000703","type":"entry-dictionary","title":"Dentinogenesis imperfecta"},{"container-title":"HP:0000704","author":[{"family":"pyorrhea"},{"family":"gum disease"},{"family":"periodontal disease"},{"family":"Inflammation of the periodontium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000704","type":"entry-dictionary","title":"Periodontitis"},{"container-title":"HP:0000705","author":[{"family":"A developmental dysplasia of the dental enamel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000705","type":"entry-dictionary","title":"Amelogenesis imperfecta"},{"container-title":"HP:0000706","author":[{"family":"failure of eruption of tooth"},{"family":"unerupted dentition"},{"family":"unerupted tooth"},{"family":"pseudoanodontia"},{"family":"pseudo-anodontia"},{"family":"The presence of one or more embedded tooth germs which have failed to erupt."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000706","type":"entry-dictionary","title":"Unerupted tooth"},{"container-title":"HP:0000707","author":[{"family":"neurological abnormality"},{"family":"brain and\/or spinal cord issue"},{"family":"abnormality of the nervous system"},{"family":"neurologic abnormalities"},{"family":"An abnormality of the nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000707","type":"entry-dictionary","title":"Abnormality of the nervous system"},{"container-title":"HP:0000708","author":[{"family":"behavioral\/psychiatric abnormalities"},{"family":"behavioral disturbances"},{"family":"behavioral problems"},{"family":"behavioural\/psychiatric abnormality"},{"family":"behavioral disorders"},{"family":"behavioral abnormality"},{"family":"psychiatric disturbances"},{"family":"behavioral changes"},{"family":"behavioral symptoms"},{"family":"psychiatric disorders"},{"family":"An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000708","type":"entry-dictionary","title":"Behavioral abnormality"},{"container-title":"HP:0000709","author":[{"family":"psychosis"},{"family":"A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000709","type":"entry-dictionary","title":"Psychosis"},{"container-title":"HP:0000710","author":[{"family":"hyperoralia"},{"family":"A tendency or compulsion to examine objects by mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000710","type":"entry-dictionary","title":"Hyperorality"},{"container-title":"HP:0000711","author":[{"family":"restlessness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000711","type":"entry-dictionary","title":"Restlessness"},{"container-title":"HP:0000712","author":[{"family":"emotional instability"},{"family":"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and\/or out of proportion to events and circumstances."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000712","type":"entry-dictionary","title":"Emotional lability"},{"container-title":"HP:0000713","author":[{"family":"Agitation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000713","type":"entry-dictionary","title":"Agitation"},{"container-title":"HP:0000716","author":[{"family":"depressive disorder"},{"family":"depression"},{"family":"Frequent feelings of being down, miserable, and\/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000716","type":"entry-dictionary","title":"Depressivity"},{"container-title":"HP:0000717","author":[{"family":"autism"},{"family":"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. 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It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. 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This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000759","type":"entry-dictionary","title":"Abnormal peripheral nervous system morphology"},{"container-title":"HP:0000762","author":[{"family":"decreased nerve conduction velocities"},{"family":"decreased ncv"},{"family":"reduced nerve conduction velocities"},{"family":"delayed nerve conduction velocity"},{"family":"slow nerve conduction velocity"},{"family":"slowed nerve conduction velocities"},{"family":"A reduction in the speed at which electrical signals propagate along the axon of a neuron."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000762","type":"entry-dictionary","title":"Decreased nerve conduction velocity"},{"container-title":"HP:0000763","author":[{"family":"peripheral sensory neuropathy"},{"family":"Peripheral neuropathy affecting the sensory 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Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000790","type":"entry-dictionary","title":"Hematuria"},{"container-title":"HP:0000791","author":[{"family":"uric acid stones"},{"family":"uric acid urolithiasis"},{"family":"The presence of uric acid-containing calculi (stones) in the kidneys."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000791","type":"entry-dictionary","title":"Uric acid nephrolithiasis"},{"container-title":"HP:0000793","author":[{"family":"mesangiocapillary glomerulonephritis"},{"family":"mpgn"},{"family":"A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000793","type":"entry-dictionary","title":"Membranoproliferative glomerulonephritis"},{"container-title":"HP:0000794","author":[{"family":"iga nephropathy"},{"family":"The presence of immunoglobulin A deposits in the glomerulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000794","type":"entry-dictionary","title":"IgA deposition in the glomerulus"},{"container-title":"HP:0000795","author":[{"family":"urethra issue"},{"family":"An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000795","type":"entry-dictionary","title":"Abnormality of the 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deficiency"},{"family":"Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000824","type":"entry-dictionary","title":"Growth hormone deficiency"},{"container-title":"HP:0000825","author":[{"family":"hyperinsulinaemic hypoglycaemia"},{"family":"hyperinsulinemia hypoglycemia"},{"family":"An increased concentration of insulin combined with a decreased concentration of glucose in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000825","type":"entry-dictionary","title":"Hyperinsulinemic hypoglycemia"},{"container-title":"HP:0000826","author":[{"family":"early onset of puberty"},{"family":"early puberty"},{"family":"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000826","type":"entry-dictionary","title":"Precocious puberty"},{"container-title":"HP:0000828","author":[{"family":"parathyroid disease"},{"family":"An abnormality of the parathyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000828","type":"entry-dictionary","title":"Abnormality of the parathyroid gland"},{"container-title":"HP:0000829","author":[{"family":"low parathyroid hormone"},{"family":"A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000829","type":"entry-dictionary","title":"Hypoparathyroidism"},{"container-title":"HP:0000830","author":[{"family":"A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000830","type":"entry-dictionary","title":"Anterior hypopituitarism"},{"container-title":"HP:0000831","author":[{"family":"insulin resistant diabetes mellitus"},{"family":"insulin-resistant diabetes"},{"family":"A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000831","type":"entry-dictionary","title":"Insulin-resistant diabetes mellitus"},{"container-title":"HP:0000832","author":[{"family":"A type of hypothyroidism that results from a defect in the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000832","type":"entry-dictionary","title":"Primary hypothyroidism"},{"container-title":"HP:0000833","author":[{"family":"glucose intolerance"},{"family":"impaired glucose tolerance"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000833","type":"entry-dictionary","title":"Glucose intolerance"},{"container-title":"HP:0000834","author":[{"family":"adrenal gland disease"},{"family":"adrenal abnormalities"},{"family":"Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000834","type":"entry-dictionary","title":"Abnormality of the adrenal glands"},{"container-title":"HP:0000835","author":[{"family":"adrenal gland hypoplasia"},{"family":"hypoplastic adrenal glands"},{"family":"small adrenal glands"},{"family":"Developmental hypoplasia of the adrenal glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000835","type":"entry-dictionary","title":"Adrenal hypoplasia"},{"container-title":"HP:0000836","author":[{"family":"overactive thyroid"},{"family":"An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and\/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000836","type":"entry-dictionary","title":"Hyperthyroidism"},{"container-title":"HP:0000837","author":[{"family":"gonadotropin excess"},{"family":"increased circulating gonadotropin level"},{"family":"elevated gonadotropins"},{"family":"elevated serum gonadotropins"},{"family":"Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000837","type":"entry-dictionary","title":"Increased circulating gonadotropin level"},{"container-title":"HP:0000839","author":[{"family":"A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000839","type":"entry-dictionary","title":"Pituitary dwarfism"},{"container-title":"HP:0000840","author":[{"family":"Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000840","type":"entry-dictionary","title":"Adrenogenital syndrome"},{"container-title":"HP:0000841","author":[{"family":"increased plasma renin activity"},{"family":"An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000841","type":"entry-dictionary","title":"Hyperactive renin-angiotensin system"},{"container-title":"HP:0000842","author":[{"family":"elevated insulin level"},{"family":"An increased concentration of insulin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000842","type":"entry-dictionary","title":"Hyperinsulinemia"},{"container-title":"HP:0000843","author":[{"family":"elevated blood parathyroid hormone level"},{"family":"Excessive production of parathyroid hormone (PTH) by the parathyroid glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000843","type":"entry-dictionary","title":"Hyperparathyroidism"},{"container-title":"HP:0000845","author":[{"family":"growth hormone excess"},{"family":"acromegalic growth"},{"family":"acromegaly"},{"family":"acral hypertrophy"},{"family":"Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000845","type":"entry-dictionary","title":"Growth hormone excess"},{"container-title":"HP:0000846","author":[{"family":"hypoadrenalism"},{"family":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000846","type":"entry-dictionary","title":"Adrenal insufficiency"},{"container-title":"HP:0000847","author":[{"family":"abnormality of the renin-aldosterone axis"},{"family":"An abnormality of the renin-angiotensin system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000847","type":"entry-dictionary","title":"Abnormality of renin-angiotensin system"},{"container-title":"HP:0000848","author":[{"family":"increased plasma renin"},{"family":"hyperreninemia"},{"family":"increased serum renin"},{"family":"elevated plasma renin"},{"family":"An increased level of renin (PRO:000013883) in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000848","type":"entry-dictionary","title":"Increased circulating renin level"},{"container-title":"HP:0000849","author":[{"family":"Adrenocortical abnormality"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000849","type":"entry-dictionary","title":"Adrenocortical abnormality"},{"container-title":"HP:0000851","author":[{"family":"hypothyroidism, congenital"},{"family":"A type of hypothyroidism with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000851","type":"entry-dictionary","title":"Congenital hypothyroidism"},{"container-title":"HP:0000852","author":[{"family":"A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000852","type":"entry-dictionary","title":"Pseudohypoparathyroidism"},{"container-title":"HP:0000853","author":[{"family":"thyroid goiter"},{"family":"goitre"},{"family":"An enlargement of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000853","type":"entry-dictionary","title":"Goiter"},{"container-title":"HP:0000854","author":[{"family":"The presence of a adenoma of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000854","type":"entry-dictionary","title":"Thyroid adenoma"},{"container-title":"HP:0000855","author":[{"family":"Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000855","type":"entry-dictionary","title":"Insulin resistance"},{"container-title":"HP:0000857","author":[{"family":"Neonatal insulin-dependent diabetes mellitus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000857","type":"entry-dictionary","title":"Neonatal insulin-dependent diabetes mellitus"},{"container-title":"HP:0000858","author":[{"family":"menstrual irregularity"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000858","type":"entry-dictionary","title":"Menstrual irregularities"},{"container-title":"HP:0000859","author":[{"family":"mineralocorticoid excess"},{"family":"increased aldosterone production"},{"family":"elevated plasma aldosterone"},{"family":"Overproduction of the mineralocorticoid aldosterone by the adrenal cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000859","type":"entry-dictionary","title":"Hyperaldosteronism"},{"container-title":"HP:0000860","author":[{"family":"underdeveloped parathyroid glands"},{"family":"small parathyroid glands"},{"family":"Developmental hypoplasia of the parathyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000860","type":"entry-dictionary","title":"Parathyroid hypoplasia"},{"container-title":"HP:0000863","author":[{"family":"neurohypophyseal diabetes insipidus"},{"family":"A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000863","type":"entry-dictionary","title":"Central diabetes insipidus"},{"container-title":"HP:0000864","author":[{"family":"Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000864","type":"entry-dictionary","title":"Abnormality of the hypothalamus-pituitary axis"},{"container-title":"HP:0000866","author":[{"family":"Euthyroid multinodular goiter"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000866","type":"entry-dictionary","title":"Euthyroid multinodular goiter"},{"container-title":"HP:0000867","author":[{"family":"Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000867","type":"entry-dictionary","title":"Secondary hyperparathyroidism"},{"container-title":"HP:0000868","author":[{"family":"decreased fertility in females"},{"family":"reduced fertility in females"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000868","type":"entry-dictionary","title":"Decreased fertility in females"},{"container-title":"HP:0000869","author":[{"family":"Secondary amenorrhea"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000869","type":"entry-dictionary","title":"Secondary amenorrhea"},{"container-title":"HP:0000870","author":[{"family":"hyperprolactinaemia"},{"family":"hyperprolactinemia"},{"family":"The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000870","type":"entry-dictionary","title":"Prolactin excess"},{"container-title":"HP:0000871","author":[{"family":"A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000871","type":"entry-dictionary","title":"Panhypopituitarism"},{"container-title":"HP:0000872","author":[{"family":"chronic lymphocytic thyroiditis"},{"family":"hashimoto's thyroiditis"},{"family":"A chronic, autoimmune type of thyroiditis associated with hypothyroidism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000872","type":"entry-dictionary","title":"Hashimoto thyroiditis"},{"container-title":"HP:0000873","author":[{"family":"A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000873","type":"entry-dictionary","title":"Diabetes insipidus"},{"container-title":"HP:0000875","author":[{"family":"intermittent high blood pressure"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000875","type":"entry-dictionary","title":"Episodic hypertension"},{"container-title":"HP:0000876","author":[{"family":"Infrequent menses (less than 6 per year or more than 35 days between cycles)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000876","type":"entry-dictionary","title":"Oligomenorrhea"},{"container-title":"HP:0000877","author":[{"family":"insulin-resistant diabetes mellitus at puberty"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000877","type":"entry-dictionary","title":"Insulin-resistant diabetes mellitus at puberty"},{"container-title":"HP:0000878","author":[{"family":"11 pairs of ribs"},{"family":"Presence of only 11 pairs of ribs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000878","type":"entry-dictionary","title":"11 pairs of ribs"},{"container-title":"HP:0000879","author":[{"family":"short sternum"},{"family":"hypoplastic sternum"},{"family":"Decreased inferosuperior length of the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000879","type":"entry-dictionary","title":"Short sternum"},{"container-title":"HP:0000882","author":[{"family":"small scapulae"},{"family":"small shoulder blade"},{"family":"hypoplastic scapula"},{"family":"short scapulae"},{"family":"scapular hypoplasia"},{"family":"Underdeveloped scapula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000882","type":"entry-dictionary","title":"Hypoplastic scapulae"},{"container-title":"HP:0000883","author":[{"family":"thin ribs"},{"family":"slender ribs"},{"family":"Ribs with a reduced diameter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000883","type":"entry-dictionary","title":"Thin ribs"},{"container-title":"HP:0000884","author":[{"family":"prominent sternum"},{"family":"sternal protrusion"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000884","type":"entry-dictionary","title":"Prominent sternum"},{"container-title":"HP:0000885","author":[{"family":"broad ribs"},{"family":"wide ribs"},{"family":"Increased width of ribs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000885","type":"entry-dictionary","title":"Broad ribs"},{"container-title":"HP:0000886","author":[{"family":"deformed rib cage"},{"family":"Malformation of the rib cage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000886","type":"entry-dictionary","title":"Deformed rib cage"},{"container-title":"HP:0000887","author":[{"family":"rib flaring"},{"family":"rib cupping"},{"family":"cupped ribs"},{"family":"Wide, concave rib end."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000887","type":"entry-dictionary","title":"Cupped ribs"},{"container-title":"HP:0000888","author":[{"family":"horizontal ribs"},{"family":"A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000888","type":"entry-dictionary","title":"Horizontal ribs"},{"container-title":"HP:0000889","author":[{"family":"abnormal clavicles"},{"family":"abnormal collarbone"},{"family":"Any abnormality of the clavicles (collar bones)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000889","type":"entry-dictionary","title":"Abnormality of the clavicle"},{"container-title":"HP:0000890","author":[{"family":"long collarbone"},{"family":"elongated clavicles"},{"family":"Increased length of the clavicles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000890","type":"entry-dictionary","title":"Long clavicles"},{"container-title":"HP:0000891","author":[{"family":"Cervical ribs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000891","type":"entry-dictionary","title":"Cervical ribs"},{"container-title":"HP:0000892","author":[{"family":"split ribs"},{"family":"cleft ribs"},{"family":"A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000892","type":"entry-dictionary","title":"Bifid ribs"},{"container-title":"HP:0000893","author":[{"family":"Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000893","type":"entry-dictionary","title":"Bulging of the costochondral junction"},{"container-title":"HP:0000894","author":[{"family":"clavicular hypoplasia"},{"family":"short collarbone"},{"family":"underdeveloped clavicles"},{"family":"hypoplastic clavicles"},{"family":"Reduced length of the clavicles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000894","type":"entry-dictionary","title":"Short clavicles"},{"container-title":"HP:0000895","author":[{"family":"hook-shaped collarbone"},{"family":"hook-shaped clavicle"},{"family":"hooked clavicle"},{"family":"An excessive upward convexity of the lateral clavicle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000895","type":"entry-dictionary","title":"Lateral clavicle hook"},{"container-title":"HP:0000896","author":[{"family":"Multiple circumscribed bony excrescences located in the ribs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000896","type":"entry-dictionary","title":"Rib exostoses"},{"container-title":"HP:0000897","author":[{"family":"A row of beadlike prominences at the junction of a rib and its cartilage, resembling a rosary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000897","type":"entry-dictionary","title":"Rachitic rosary"},{"container-title":"HP:0000900","author":[{"family":"Increased thickness (diameter) of ribs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000900","type":"entry-dictionary","title":"Thickened ribs"},{"container-title":"HP:0000902","author":[{"family":"fused ribs"},{"family":"rib fusion"},{"family":"Complete or partial merging of adjacent ribs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000902","type":"entry-dictionary","title":"Rib fusion"},{"container-title":"HP:0000904","author":[{"family":"anterior flaring of ribs"},{"family":"flaring of rib cage"},{"family":"The presence of wide, concave anterior rib ends."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000904","type":"entry-dictionary","title":"Flaring of rib cage"},{"container-title":"HP:0000905","author":[{"family":"progressive acroosteolysis of the clavicle"},{"family":"Progressive bone resorption in the distal part of the clavicle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000905","type":"entry-dictionary","title":"Progressive clavicular acroosteolysis"},{"container-title":"HP:0000907","author":[{"family":"anteriorly splayed ribs"},{"family":"anterior cupping of ribs"},{"family":"Wide, concave anterior rib end."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000907","type":"entry-dictionary","title":"Anterior rib cupping"},{"container-title":"HP:0000910","author":[{"family":"Wide-cupped costochondral junctions"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000910","type":"entry-dictionary","title":"Wide-cupped costochondral junctions"},{"container-title":"HP:0000911","author":[{"family":"Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000911","type":"entry-dictionary","title":"Flat glenoid fossa"},{"container-title":"HP:0000912","author":[{"family":"high scapula"},{"family":"high schoulder blade"},{"family":"congenital, upward displacement of the scapula"},{"family":"sprengel deformity"},{"family":"A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000912","type":"entry-dictionary","title":"Sprengel anomaly"},{"container-title":"HP:0000913","author":[{"family":"Complete or partial merging of the posterior part of adjacent ribs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000913","type":"entry-dictionary","title":"Posterior rib fusion"},{"container-title":"HP:0000914","author":[{"family":"shield chest"},{"family":"broad chest"},{"family":"A broad chest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000914","type":"entry-dictionary","title":"Shield chest"},{"container-title":"HP:0000915","author":[{"family":"pectus excavatum inferiorly"},{"family":"Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000915","type":"entry-dictionary","title":"Pectus excavatum of inferior sternum"},{"container-title":"HP:0000916","author":[{"family":"broad collarbone"},{"family":"Increased width (cross-sectional diameter) of the clavicles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000916","type":"entry-dictionary","title":"Broad clavicles"},{"container-title":"HP:0000917","author":[{"family":"pectus carinatum superiorly"},{"family":"Pectus carinatum affecting primarily the superior part of the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000917","type":"entry-dictionary","title":"Superior pectus carinatum"},{"container-title":"HP:0000918","author":[{"family":"scapulae exostoses"},{"family":"shoulder bone exostoes"},{"family":"The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000918","type":"entry-dictionary","title":"Scapular exostoses"},{"container-title":"HP:0000919","author":[{"family":"costochondral juctions abnormal"},{"family":"Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000919","type":"entry-dictionary","title":"Abnormality of the costochondral junction"},{"container-title":"HP:0000920","author":[{"family":"costochondral thickening"},{"family":"widened costochondral junction"},{"family":"prominent costochondral junction"},{"family":"enlarged costochondral junctions"},{"family":"wide costochondral junctions"},{"family":"Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000920","type":"entry-dictionary","title":"Enlargement of the costochondral junction"},{"container-title":"HP:0000921","author":[{"family":"missing ribs"},{"family":"absent ribs"},{"family":"decreased rib number"},{"family":"A developmental anomaly with absence of one or more ribs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000921","type":"entry-dictionary","title":"Missing ribs"},{"container-title":"HP:0000922","author":[{"family":"anterior and posterior rib cupping"},{"family":"Wide, concave posterior rib end."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000922","type":"entry-dictionary","title":"Posterior rib cupping"},{"container-title":"HP:0000923","author":[{"family":"The presence of a row of beadlike prominences at the junction of a rib and its cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000923","type":"entry-dictionary","title":"Beaded ribs"},{"container-title":"HP:0000924","author":[{"family":"abnormality of the skeletal system"},{"family":"skeletal anomalies"},{"family":"skeletal abnormalities"},{"family":"An abnormality of the skeletal system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000924","type":"entry-dictionary","title":"Abnormality of the skeletal system"},{"container-title":"HP:0000925","author":[{"family":"abnormality of the vertebral column"},{"family":"abnormal spine"},{"family":"abnormality of the backbone"},{"family":"abnormal vertebral column"},{"family":"abnormality of the spine"},{"family":"Any abnormality of the vertebral column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000925","type":"entry-dictionary","title":"Abnormality of the vertebral column"},{"container-title":"HP:0000926","author":[{"family":"flattened vertebrae"},{"family":"flat vertebral bodies"},{"family":"flattened vertebral bodies"},{"family":"A flattened vertebral body shape with reduced distance between the vertebral endplates."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000926","type":"entry-dictionary","title":"Platyspondyly"},{"container-title":"HP:0000927","author":[{"family":"abnormality of skeletal maturation"},{"family":"The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000927","type":"entry-dictionary","title":"Abnormality of skeletal maturation"},{"container-title":"HP:0000929","author":[{"family":"abnormality of the skull bones"},{"family":"An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000929","type":"entry-dictionary","title":"Abnormality of the skull"},{"container-title":"HP:0000930","author":[{"family":"elevated imprint of occipital bone over the transverse sinuses"},{"family":"elevated imprint of posterior skull bones over the transverse sinuses"},{"family":"thinning and bulging of occipital bone over the transverse sinuses"},{"family":"thinning and bulging of posterior skull bones over the transverse sinuses"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000930","type":"entry-dictionary","title":"Elevated imprint of the transverse sinuses"},{"container-title":"HP:0000931","author":[{"family":"thinning and bulging of posterior skull bones"},{"family":"thinning and bulging of occipital bone of skull"},{"family":"thinning and bulging of posterior fossa bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000931","type":"entry-dictionary","title":"Thinning and bulging of the posterior fossa bones"},{"container-title":"HP:0000932","author":[{"family":"abnormality of the posterior fossa"},{"family":"posterior fossa anomaly"},{"family":"An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000932","type":"entry-dictionary","title":"Abnormality of the posterior cranial fossa"},{"container-title":"HP:0000933","author":[{"family":"Posterior fossa cyst at the fourth ventricle"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000933","type":"entry-dictionary","title":"Posterior fossa cyst at the fourth ventricle"},{"container-title":"HP:0000934","author":[{"family":"Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses\/Sharpey fibers) ."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000934","type":"entry-dictionary","title":"Chondrocalcinosis"},{"container-title":"HP:0000935","author":[{"family":"broad cortex of long bones"},{"family":"cortical thickening of the long bones"},{"family":"thickened cortices of long bones"},{"family":"Abnormal thickening of the cortex of long bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000935","type":"entry-dictionary","title":"Thickened cortex of long bones"},{"container-title":"HP:0000938","author":[{"family":"generalized osteopenia"},{"family":"Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000938","type":"entry-dictionary","title":"Osteopenia"},{"container-title":"HP:0000939","author":[{"family":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000939","type":"entry-dictionary","title":"Osteoporosis"},{"container-title":"HP:0000940","author":[{"family":"abnormal shape of shaft of long bone"},{"family":"abnormality of the diaphyses"},{"family":"An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000940","type":"entry-dictionary","title":"Abnormal diaphysis morphology"},{"container-title":"HP:0000941","author":[{"family":"short shaft of long bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000941","type":"entry-dictionary","title":"Short diaphyses"},{"container-title":"HP:0000943","author":[{"family":"Dysostosis multiplex"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000943","type":"entry-dictionary","title":"Dysostosis multiplex"},{"container-title":"HP:0000944","author":[{"family":"abnormality of the wide portion of a long bone"},{"family":"An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000944","type":"entry-dictionary","title":"Abnormality of the metaphysis"},{"container-title":"HP:0000946","author":[{"family":"small wings of the pelvic girdle"},{"family":"short and small iliac bones"},{"family":"Underdevelopment of the ilium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000946","type":"entry-dictionary","title":"Hypoplastic ilia"},{"container-title":"HP:0000947","author":[{"family":"dumbbell-shaped long bone"},{"family":"dumbbell widening of long bone metaphyses"},{"family":"An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000947","type":"entry-dictionary","title":"Dumbbell-shaped long bone"},{"container-title":"HP:0000951","author":[{"family":"skin abnormality"},{"family":"abnormality of the skin"},{"family":"dermatopathy"},{"family":"dermopathy"},{"family":"An abnormality of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000951","type":"entry-dictionary","title":"Abnormality of the skin"},{"container-title":"HP:0000952","author":[{"family":"yellow skin"},{"family":"icterus"},{"family":"jaundice"},{"family":"yellowing of the skin"},{"family":"Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000952","type":"entry-dictionary","title":"Jaundice"},{"container-title":"HP:0000953","author":[{"family":"cutaneous hyperpigmentation"},{"family":"melanodermia"},{"family":"patchy darkened skin"},{"family":"melanoderma"},{"family":"skin hyperpigmentation"},{"family":"increased skin pigmentation"},{"family":"A darkening of the skin related to an increase in melanin production and deposition."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000953","type":"entry-dictionary","title":"Hyperpigmentation of the skin"},{"container-title":"HP:0000954","author":[{"family":"single palmar creases"},{"family":"simian line"},{"family":"single transverse palmar creases"},{"family":"simian creases"},{"family":"single flexion crease"},{"family":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000954","type":"entry-dictionary","title":"Single transverse palmar crease"},{"container-title":"HP:0000956","author":[{"family":"keratosis nigricans"},{"family":"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000956","type":"entry-dictionary","title":"Acanthosis nigricans"},{"container-title":"HP:0000957","author":[{"family":"cafe au lait spots"},{"family":"cafe-au-lait macules"},{"family":"cafe-au-lait spots"},{"family":"birthmark"},{"family":"Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000957","type":"entry-dictionary","title":"Cafe-au-lait spot"},{"container-title":"HP:0000958","author":[{"family":"xerosis"},{"family":"dry skin"},{"family":"Skin characterized by the lack of natural or normal moisture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000958","type":"entry-dictionary","title":"Dry skin"},{"container-title":"HP:0000960","author":[{"family":"spinal dimple"},{"family":"pilonidal dimple"},{"family":"A subtype of skin dimples presenting as an indentation in the skin of the intergluteal cleft ."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000960","type":"entry-dictionary","title":"Sacral dimple"},{"container-title":"HP:0000961","author":[{"family":"Cyanosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000961","type":"entry-dictionary","title":"Cyanosis"},{"container-title":"HP:0000962","author":[{"family":"Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000962","type":"entry-dictionary","title":"Hyperkeratosis"},{"container-title":"HP:0000963","author":[{"family":"thin skin"},{"family":"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000963","type":"entry-dictionary","title":"Thin skin"},{"container-title":"HP:0000964","author":[{"family":"eczema"},{"family":"Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000964","type":"entry-dictionary","title":"Eczema"},{"container-title":"HP:0000965","author":[{"family":"livedo reticularis"},{"family":"A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000965","type":"entry-dictionary","title":"Cutis marmorata"},{"container-title":"HP:0000966","author":[{"family":"inadequate sweating"},{"family":"decreased sweating"},{"family":"decreased ability to sweat"},{"family":"oligohidrosis"},{"family":"sweating, decreased"},{"family":"Abnormally diminished capacity to sweat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000966","type":"entry-dictionary","title":"Hypohidrosis"},{"container-title":"HP:0000967","author":[{"family":"Petechiae are pinpoint-sized reddish\/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000967","type":"entry-dictionary","title":"Petechiae"},{"container-title":"HP:0000968","author":[{"family":"Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000968","type":"entry-dictionary","title":"Ectodermal dysplasia"},{"container-title":"HP:0000969","author":[{"family":"oedema"},{"family":"water retention"},{"family":"fluid retention"},{"family":"dropsy"},{"family":"hydrops"},{"family":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000969","type":"entry-dictionary","title":"Edema"},{"container-title":"HP:0000970","author":[{"family":"sudomotor dysfunction"},{"family":"lack of sweating"},{"family":"sweating dysfunction"},{"family":"Inability to sweat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000970","type":"entry-dictionary","title":"Anhidrosis"},{"container-title":"HP:0000971","author":[{"family":"abnormality of the sweat gland"},{"family":"abnormalities of sweating"},{"family":"sweat gland disease"},{"family":"An abnormality of the sweat gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000971","type":"entry-dictionary","title":"Abnormality of the sweat gland"},{"container-title":"HP:0000972","author":[{"family":"palmoplantar keratoses"},{"family":"palmoplantar keratosis"},{"family":"thick palms and soles"},{"family":"hyperkeratosis of palms and soles"},{"family":"hyperkeratosis of the palms and soles"},{"family":"thickened palms and soles"},{"family":"Hyperkeratosis affecting the palm of the hand and the sole of the foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000972","type":"entry-dictionary","title":"Palmoplantar hyperkeratosis"},{"container-title":"HP:0000973","author":[{"family":"generalized elastolysis"},{"family":"hanging skin"},{"family":"lax skin"},{"family":"dermatomegaly"},{"family":"dermatochalasia"},{"family":"loose skin"},{"family":"cutaneous laxity"},{"family":"hypoelastic skin"},{"family":"inelastic skin"},{"family":"chalazoderma"},{"family":"skin laxity"},{"family":"Wrinkled, redundant, inelastic and sagging skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000973","type":"entry-dictionary","title":"Cutis laxa"},{"container-title":"HP:0000974","author":[{"family":"skin hyperelasticity"},{"family":"skin hyperextensibility"},{"family":"hyperelastic skin"},{"family":"stretchable skin"},{"family":"A condition in which the skin can be stretched beyond normal, and then returns to its initial position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000974","type":"entry-dictionary","title":"Hyperextensible skin"},{"container-title":"HP:0000975","author":[{"family":"diaphoresis"},{"family":"sweating profusely"},{"family":"excessive sweating"},{"family":"increased sweating"},{"family":"sweating, increased"},{"family":"profuse sweating"},{"family":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000975","type":"entry-dictionary","title":"Hyperhidrosis"},{"container-title":"HP:0000976","author":[{"family":"Eczematoid dermatitis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000976","type":"entry-dictionary","title":"Eczematoid dermatitis"},{"container-title":"HP:0000977","author":[{"family":"velvety skin texture"},{"family":"soft skin"},{"family":"Subjective impression of increased softness upon palpitation of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000977","type":"entry-dictionary","title":"Soft skin"},{"container-title":"HP:0000978","author":[{"family":"bruise easily"},{"family":"easy bruisability"},{"family":"bruising susceptibility"},{"family":"easy bruising"},{"family":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000978","type":"entry-dictionary","title":"Bruising susceptibility"},{"container-title":"HP:0000979","author":[{"family":"Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000979","type":"entry-dictionary","title":"Purpura"},{"container-title":"HP:0000980","author":[{"family":"paleness"},{"family":"Abnormally pale skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000980","type":"entry-dictionary","title":"Pallor"},{"container-title":"HP:0000982","author":[{"family":"palmar and plantar keratoderma"},{"family":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000982","type":"entry-dictionary","title":"Palmoplantar keratoderma"},{"container-title":"HP:0000987","author":[{"family":"atypical scarring of skin"},{"family":"Atypically scarred skin ."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000987","type":"entry-dictionary","title":"Atypical scarring of skin"},{"container-title":"HP:0000988","author":[{"family":"exanthem"},{"family":"skin rash"},{"family":"A red eruption of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000988","type":"entry-dictionary","title":"Skin rash"},{"container-title":"HP:0000989","author":[{"family":"itchy skin"},{"family":"skin itching"},{"family":"pruritis"},{"family":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000989","type":"entry-dictionary","title":"Pruritus"},{"container-title":"HP:0000991","author":[{"family":"xanthomata"},{"family":"The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000991","type":"entry-dictionary","title":"Xanthomatosis"},{"container-title":"HP:0000992","author":[{"family":"skin photosensitivity"},{"family":"sensitivity to sunlight"},{"family":"sun sensitivity"},{"family":"photosensitive skin rashes"},{"family":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000992","type":"entry-dictionary","title":"Cutaneous photosensitivity"},{"container-title":"HP:0000993","author":[{"family":"molluscoid pseudotumor"},{"family":"Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000993","type":"entry-dictionary","title":"Molluscoid pseudotumors"},{"container-title":"HP:0000995","author":[{"family":"beauty mark"},{"family":"nevocellular nevi"},{"family":"pigmented nevi"},{"family":"pigmented naevi"},{"family":"melanocytic nevi"},{"family":"noncancerous mole"},{"family":"melanocytic naevus"},{"family":"A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000995","type":"entry-dictionary","title":"Melanocytic nevus"},{"container-title":"HP:0000996","author":[{"family":"Facial capillary hemangioma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000996","type":"entry-dictionary","title":"Facial capillary hemangioma"},{"container-title":"HP:0000997","author":[{"family":"The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000997","type":"entry-dictionary","title":"Axillary freckling"},{"container-title":"HP:0000998","author":[{"family":"excessive hair growth"},{"family":"Hypertrichosis is increased hair growth that is abnormal in quantity or location."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000998","type":"entry-dictionary","title":"Hypertrichosis"},{"container-title":"HP:0000999","author":[{"family":"pus-filled lesion"},{"family":"Any manifestation of a skin disease associated with the production of pus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0000999","type":"entry-dictionary","title":"Pyoderma"},{"container-title":"HP:0001000","author":[{"family":"abnormal skin color"},{"family":"pigmentary changes"},{"family":"abnormality of skin pigmentation"},{"family":"pigmentation anomaly"},{"family":"abnormality of pigmentation"},{"family":"abnormal pigmentation"},{"family":"abnormal skin pigmentation"},{"family":"pigmentary skin changes"},{"family":"An abnormality of the pigmentation of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001000","type":"entry-dictionary","title":"Abnormality of skin pigmentation"},{"container-title":"HP:0001001","author":[{"family":"abnormality of fatty tissue below the skin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001001","type":"entry-dictionary","title":"Abnormality of subcutaneous fat tissue"},{"container-title":"HP:0001003","author":[{"family":"liver spots"},{"family":"Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001003","type":"entry-dictionary","title":"Multiple lentigines"},{"container-title":"HP:0001004","author":[{"family":"lymphatic obstruction"},{"family":"lymphoedema"},{"family":"onset of lymphedema around puberty"},{"family":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001004","type":"entry-dictionary","title":"Lymphedema"},{"container-title":"HP:0001005","author":[{"family":"Dermatological manifestations of systemic disorders"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001005","type":"entry-dictionary","title":"Dermatological manifestations of systemic disorders"},{"container-title":"HP:0001006","author":[{"family":"hypotrichosis, infantile"},{"family":"congenital hypotrichosis"},{"family":"marked hypotrichosis"},{"family":"Congenital lack of hair growth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001006","type":"entry-dictionary","title":"Hypotrichosis"},{"container-title":"HP:0001007","author":[{"family":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001007","type":"entry-dictionary","title":"Hirsutism"},{"container-title":"HP:0001008","author":[{"family":"Accumulation of melanosomes in melanocytes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001008","type":"entry-dictionary","title":"Accumulation of melanosomes in melanocytes"},{"container-title":"HP:0001009","author":[{"family":"cutaneous telangiectasia"},{"family":"spider veins"},{"family":"telangiectases"},{"family":"Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001009","type":"entry-dictionary","title":"Telangiectasia"},{"container-title":"HP:0001010","author":[{"family":"patchy lightened skin"},{"family":"skin hypopigmentation"},{"family":"hypopigmented skin"},{"family":"A reduction of skin color related to a decrease in melanin production and deposition."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001010","type":"entry-dictionary","title":"Hypopigmentation of the skin"},{"container-title":"HP:0001012","author":[{"family":"lipomatosis"},{"family":"lipomas"},{"family":"The presence of multiple lipomas (a type of benign tissue made of fatty tissue)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001012","type":"entry-dictionary","title":"Multiple lipomas"},{"container-title":"HP:0001013","author":[{"family":"Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001013","type":"entry-dictionary","title":"Eruptive xanthomas"},{"container-title":"HP:0001014","author":[{"family":"angiokeratomas"},{"family":"A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001014","type":"entry-dictionary","title":"Angiokeratoma"},{"container-title":"HP:0001015","author":[{"family":"prominent veins"},{"family":"A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001015","type":"entry-dictionary","title":"Prominent superficial veins"},{"container-title":"HP:0001017","author":[{"family":"A type of pallor that is secondary to the presence of anemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001017","type":"entry-dictionary","title":"Anemic pallor"},{"container-title":"HP:0001018","author":[{"family":"An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001018","type":"entry-dictionary","title":"Abnormal palmar dermatoglyphics"},{"container-title":"HP:0001019","author":[{"family":"exfoliative dermititis"},{"family":"generalized erythroderma"},{"family":"generalized erythrodermia"},{"family":"An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001019","type":"entry-dictionary","title":"Erythroderma"},{"container-title":"HP:0001022","author":[{"family":"achromasia"},{"family":"albinism"},{"family":"An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001022","type":"entry-dictionary","title":"Albinism"},{"container-title":"HP:0001024","author":[{"family":"Skin dimple over apex of long bone angulation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001024","type":"entry-dictionary","title":"Skin dimple over apex of long bone angulation"},{"container-title":"HP:0001025","author":[{"family":"hives"},{"family":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001025","type":"entry-dictionary","title":"Urticaria"},{"container-title":"HP:0001026","author":[{"family":"penetrating foot ulcers"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001026","type":"entry-dictionary","title":"Penetrating foot ulcers"},{"container-title":"HP:0001027","author":[{"family":"soft, doughy skin"},{"family":"A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001027","type":"entry-dictionary","title":"Soft, doughy skin"},{"container-title":"HP:0001028","author":[{"family":"hemangiomata"},{"family":"strawberry mark"},{"family":"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001028","type":"entry-dictionary","title":"Hemangioma"},{"container-title":"HP:0001029","author":[{"family":"Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001029","type":"entry-dictionary","title":"Poikiloderma"},{"container-title":"HP:0001030","author":[{"family":"fragile skin"},{"family":"skin fragility"},{"family":"Skin that splits easily with minimal injury."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001030","type":"entry-dictionary","title":"Fragile skin"},{"container-title":"HP:0001031","author":[{"family":"The presence of subcutaneous lipoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001031","type":"entry-dictionary","title":"Subcutaneous lipoma"},{"container-title":"HP:0001032","author":[{"family":"absence of skin creases over distal interphalangeal joints"},{"family":"aplasia of the distal interphalangeal creases"},{"family":"distal finger flexion creases absent"},{"family":"Absence of the distal interphalangeal flexion creases of the fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001032","type":"entry-dictionary","title":"Absent distal interphalangeal creases"},{"container-title":"HP:0001033","author":[{"family":"facial flushing after alcohol intake"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001033","type":"entry-dictionary","title":"Facial flushing after alcohol intake"},{"container-title":"HP:0001034","author":[{"family":"hyperpigmented macules"},{"family":"hyperpigmented skin patches"},{"family":"hyperpigmented spots"},{"family":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001034","type":"entry-dictionary","title":"Hypermelanotic macule"},{"container-title":"HP:0001036","author":[{"family":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001036","type":"entry-dictionary","title":"Parakeratosis"},{"container-title":"HP:0001038","author":[{"family":"Warfarin-induced skin necrosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001038","type":"entry-dictionary","title":"Warfarin-induced skin necrosis"},{"container-title":"HP:0001039","author":[{"family":"Atheroeruptive xanthoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001039","type":"entry-dictionary","title":"Atheroeruptive xanthoma"},{"container-title":"HP:0001040","author":[{"family":"Multiple pterygia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001040","type":"entry-dictionary","title":"Multiple pterygia"},{"container-title":"HP:0001041","author":[{"family":"blushing"},{"family":"rosacea"},{"family":"red in the face"},{"family":"blushed cheeks"},{"family":"ruddy face"},{"family":"red face"},{"family":"Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001041","type":"entry-dictionary","title":"Facial erythema"},{"container-title":"HP:0001042","author":[{"family":"High axial triradius"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001042","type":"entry-dictionary","title":"High axial triradius"},{"container-title":"HP:0001043","author":[{"family":"prominent scalp veins"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001043","type":"entry-dictionary","title":"Prominent scalp veins"},{"container-title":"HP:0001045","author":[{"family":"blotchy loss of skin color"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001045","type":"entry-dictionary","title":"Vitiligo"},{"container-title":"HP:0001046","author":[{"family":"intermittent icterus"},{"family":"intermittent yellow skin"},{"family":"intermittent yellowing of skin"},{"family":"Jaundice that is sometimes present, sometimes not."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001046","type":"entry-dictionary","title":"Intermittent jaundice"},{"container-title":"HP:0001047","author":[{"family":"baby eczema"},{"family":"dermatitis, atopic"},{"family":"atopic dermatitis, chronic"},{"family":"Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001047","type":"entry-dictionary","title":"Atopic dermatitis"},{"container-title":"HP:0001048","author":[{"family":"cavernous haemangioma"},{"family":"cavernous angioma"},{"family":"The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001048","type":"entry-dictionary","title":"Cavernous hemangioma"},{"container-title":"HP:0001049","author":[{"family":"Absent dorsal skin creases over affected joints"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001049","type":"entry-dictionary","title":"Absent dorsal skin creases over affected joints"},{"container-title":"HP:0001050","author":[{"family":"Plethora"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001050","type":"entry-dictionary","title":"Plethora"},{"container-title":"HP:0001051","author":[{"family":"dysseborrheic dermatitis"},{"family":"seborrhea"},{"family":"seborrheic eczema"},{"family":"Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001051","type":"entry-dictionary","title":"Seborrheic dermatitis"},{"container-title":"HP:0001052","author":[{"family":"nevus simplex"},{"family":"port-wine stain"},{"family":"A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001052","type":"entry-dictionary","title":"Nevus flammeus"},{"container-title":"HP:0001053","author":[{"family":"Hypopigmented skin patches"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001053","type":"entry-dictionary","title":"Hypopigmented skin patches"},{"container-title":"HP:0001054","author":[{"family":"numerous moles"},{"family":"multiple pigmented nevi"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001054","type":"entry-dictionary","title":"Numerous nevi"},{"container-title":"HP:0001055","author":[{"family":"st. anthony's fire"},{"family":"Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001055","type":"entry-dictionary","title":"Erysipelas"},{"container-title":"HP:0001056","author":[{"family":"millium cyst"},{"family":"milk spot"},{"family":"Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001056","type":"entry-dictionary","title":"Milia"},{"container-title":"HP:0001057","author":[{"family":"congenital absence of skin"},{"family":"cutis aplasia"},{"family":"congenital scars"},{"family":"A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001057","type":"entry-dictionary","title":"Aplasia cutis congenita"},{"container-title":"HP:0001058","author":[{"family":"poor wound healing"},{"family":"A reduced ability to heal cutaneous wounds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001058","type":"entry-dictionary","title":"Poor wound healing"},{"container-title":"HP:0001059","author":[{"family":"pterygia"},{"family":"surfer's eye"},{"family":"Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001059","type":"entry-dictionary","title":"Pterygium"},{"container-title":"HP:0001060","author":[{"family":"Axillary pterygia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001060","type":"entry-dictionary","title":"Axillary pterygia"},{"container-title":"HP:0001061","author":[{"family":"acne"},{"family":"breaking out"},{"family":"A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001061","type":"entry-dictionary","title":"Acne"},{"container-title":"HP:0001062","author":[{"family":"dysplastic nevus"},{"family":"atypical mole"},{"family":"A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001062","type":"entry-dictionary","title":"Atypical nevus"},{"container-title":"HP:0001063","author":[{"family":"Acrocyanosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001063","type":"entry-dictionary","title":"Acrocyanosis"},{"container-title":"HP:0001065","author":[{"family":"striae cutis distensae"},{"family":"striae atrophicae"},{"family":"stretch marks"},{"family":"purplish striae"},{"family":"Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001065","type":"entry-dictionary","title":"Striae distensae"},{"container-title":"HP:0001067","author":[{"family":"neurofibromata"},{"family":"neurofibromatosis"},{"family":"multiple neurofibromas"},{"family":"The presence of multiple cutaneous neurofibromas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001067","type":"entry-dictionary","title":"Neurofibromas"},{"container-title":"HP:0001069","author":[{"family":"hyperhidrosis, episodic"},{"family":"sporadic excessive sweating"},{"family":"Intermittent episodes of abnormally increased perspiration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001069","type":"entry-dictionary","title":"Episodic hyperhidrosis"},{"container-title":"HP:0001070","author":[{"family":"mottled skin coloring"},{"family":"stippled pigmentation"},{"family":"Patchy and irregular skin pigmentation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001070","type":"entry-dictionary","title":"Mottled pigmentation"},{"container-title":"HP:0001071","author":[{"family":"fabry syndrome"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001071","type":"entry-dictionary","title":"Angiokeratoma corporis diffusum"},{"container-title":"HP:0001072","author":[{"family":"thick skin"},{"family":"pachydermia"},{"family":"diffusely thickened skin"},{"family":"Laminar thickening of skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001072","type":"entry-dictionary","title":"Thickened skin"},{"container-title":"HP:0001073","author":[{"family":"cigarette-paper scars"},{"family":"'cigarette paper scarring'"},{"family":"Thin (atrophic) and wide scars."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001073","type":"entry-dictionary","title":"Cigarette-paper scars"},{"container-title":"HP:0001074","author":[{"family":"Atypical nevi in non-sun exposed areas"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001074","type":"entry-dictionary","title":"Atypical nevi in non-sun exposed areas"},{"container-title":"HP:0001075","author":[{"family":"thin, atrophic scars"},{"family":"Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001075","type":"entry-dictionary","title":"Atrophic scars"},{"container-title":"HP:0001076","author":[{"family":"glabellar capillary hemangioma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001076","type":"entry-dictionary","title":"Glabellar hemangioma"},{"container-title":"HP:0001080","author":[{"family":"biliary tract disease"},{"family":"An abnormality of the biliary tree."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001080","type":"entry-dictionary","title":"Biliary tract abnormality"},{"container-title":"HP:0001081","author":[{"family":"gallstones"},{"family":"Hard, pebble-like deposits that form within the gallbladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001081","type":"entry-dictionary","title":"Cholelithiasis"},{"container-title":"HP:0001082","author":[{"family":"gallbladder inflammation"},{"family":"The presence of inflammatory changes in the gallbladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001082","type":"entry-dictionary","title":"Cholecystitis"},{"container-title":"HP:0001083","author":[{"family":"abnormality of lens position"},{"family":"lens dislocation"},{"family":"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001083","type":"entry-dictionary","title":"Ectopia lentis"},{"container-title":"HP:0001084","author":[{"family":"arcus lipoidis"},{"family":"arcus senilis"},{"family":"arcus juvenilis"},{"family":"corneal annulus"},{"family":"gerontoxon"},{"family":"anterior embryotoxon"},{"family":"A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001084","type":"entry-dictionary","title":"Corneal arcus"},{"container-title":"HP:0001085","author":[{"family":"Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001085","type":"entry-dictionary","title":"Papilledema"},{"container-title":"HP:0001087","author":[{"family":"infantile glaucoma"},{"family":"pediatric glaucoma"},{"family":"childhood glaucoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001087","type":"entry-dictionary","title":"Congenital glaucoma"},{"container-title":"HP:0001088","author":[{"family":"speckled iris"},{"family":"iris brushfield spots"},{"family":"The presence of whitish spots in a ring-like arrangement at the periphery of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001088","type":"entry-dictionary","title":"Brushfield spots"},{"container-title":"HP:0001089","author":[{"family":"iris degeneration"},{"family":"Loss of iris tissue (atrophy)"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001089","type":"entry-dictionary","title":"Iris atrophy"},{"container-title":"HP:0001090","author":[{"family":"megalophthalmos"},{"family":"increased size of eyes"},{"family":"large of palpebral fissures"},{"family":"large eyeballs"},{"family":"large eyes"},{"family":"increased size of palpebral fissures"},{"family":"Diffusely large eye (with megalocornea) without glaucoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001090","type":"entry-dictionary","title":"Abnormally large globe"},{"container-title":"HP:0001092","author":[{"family":"lacrimal puncta aplasia"},{"family":"absent lacrimal gland puncta"},{"family":"aplasia of lacrimal puncta"},{"family":"lacrimal punctum, absence"},{"family":"absent lacrimal puncta"},{"family":"absent lacrimal openings"},{"family":"agenesis of the lacrimal punctum"},{"family":"No identifiable superior and\/or inferior lacrimal punctum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001092","type":"entry-dictionary","title":"Absent lacrimal punctum"},{"container-title":"HP:0001093","author":[{"family":"The presence of developmental dysplasia of the optic nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001093","type":"entry-dictionary","title":"Optic nerve dysplasia"},{"container-title":"HP:0001094","author":[{"family":"A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001094","type":"entry-dictionary","title":"Iridocyclitis"},{"container-title":"HP:0001095","author":[{"family":"Hypertensive retinopathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001095","type":"entry-dictionary","title":"Hypertensive retinopathy"},{"container-title":"HP:0001096","author":[{"family":"Inflammation of the cornea and conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001096","type":"entry-dictionary","title":"Keratoconjunctivitis"},{"container-title":"HP:0001097","author":[{"family":"keratitis sicca"},{"family":"xerophthalmia"},{"family":"dry eye syndrome"},{"family":"dry eyes"},{"family":"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001097","type":"entry-dictionary","title":"Keratoconjunctivitis sicca"},{"container-title":"HP:0001098","author":[{"family":"abnormality of the fundus"},{"family":"Any structural abnormality of the fundus of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001098","type":"entry-dictionary","title":"Abnormal fundus morphology"},{"container-title":"HP:0001099","author":[{"family":"Fundus atrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001099","type":"entry-dictionary","title":"Fundus atrophy"},{"container-title":"HP:0001100","author":[{"family":"different colored eyes"},{"family":"heterochromia irides"},{"family":"Heterochromia iridis is a difference in the color of the iris in the two eyes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001100","type":"entry-dictionary","title":"Heterochromia iridis"},{"container-title":"HP:0001101","author":[{"family":"inflammation of iris"},{"family":"Inflammation of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001101","type":"entry-dictionary","title":"Iritis"},{"container-title":"HP:0001102","author":[{"family":"angioid streaks, retina"},{"family":"laquer cracks of the retina"},{"family":"angioid streaks of the retina"},{"family":"Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001102","type":"entry-dictionary","title":"Angioid streaks of the fundus"},{"container-title":"HP:0001103","author":[{"family":"abnormality of the macula"},{"family":"macula abnormality"},{"family":"macular abnormality"},{"family":"A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001103","type":"entry-dictionary","title":"Abnormal macular morphology"},{"container-title":"HP:0001104","author":[{"family":"Underdevelopment of the macula lutea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001104","type":"entry-dictionary","title":"Macular hypoplasia"},{"container-title":"HP:0001105","author":[{"family":"Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001105","type":"entry-dictionary","title":"Retinal atrophy"},{"container-title":"HP:0001106","author":[{"family":"periorbital melanosis"},{"family":"idiopathic cutaneous hyperchromia at the orbital region"},{"family":"infraorbital pigmentation"},{"family":"dark circles under the eyes"},{"family":"darkening around the eyes"},{"family":"pigmentation around the eyes"},{"family":"dark circles around the eyes"},{"family":"Increased pigmentation of the skin in the region surrounding the orbit of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001106","type":"entry-dictionary","title":"Periorbital hyperpigmentation"},{"container-title":"HP:0001107","author":[{"family":"absent pigmentation in the eye"},{"family":"albinism, ocular"},{"family":"An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001107","type":"entry-dictionary","title":"Ocular albinism"},{"container-title":"HP:0001112","author":[{"family":"leber optic atrophy features"},{"family":"leber optic degeneration"},{"family":"Degeneration of retinal ganglion cells and their axons."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001112","type":"entry-dictionary","title":"Leber optic atrophy"},{"container-title":"HP:0001114","author":[{"family":"xanthoma of eyelid"},{"family":"xanthoma of periocular region"},{"family":"xanthelasma of eyelid"},{"family":"fatty deposits on eyelids"},{"family":"fatty deposits in skin around the eyes"},{"family":"xanthelasma of periocular region"},{"family":"xanthelasma palpebrarum"},{"family":"The presence of xanthomata in the skin of the eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001114","type":"entry-dictionary","title":"Xanthelasma"},{"container-title":"HP:0001115","author":[{"family":"A polar cataract that affects the posterior pole of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001115","type":"entry-dictionary","title":"Posterior polar cataract"},{"container-title":"HP:0001116","author":[{"family":"A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001116","type":"entry-dictionary","title":"Macular coloboma"},{"container-title":"HP:0001117","author":[{"family":"sudden central visual loss"},{"family":"sudden decrease in vision"},{"family":"Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001117","type":"entry-dictionary","title":"Sudden loss of visual acuity"},{"container-title":"HP:0001118","author":[{"family":"A type of cataract that is not apparent at birth but that arises in childhood or adolescence."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001118","type":"entry-dictionary","title":"Juvenile cataract"},{"container-title":"HP:0001119","author":[{"family":"Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001119","type":"entry-dictionary","title":"Keratoglobus"},{"container-title":"HP:0001120","author":[{"family":"Any abnormality of the size or morphology of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001120","type":"entry-dictionary","title":"Abnormality of corneal size"},{"container-title":"HP:0001123","author":[{"family":"partial loss of field of vision"},{"family":"visual field defects"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001123","type":"entry-dictionary","title":"Visual field defect"},{"container-title":"HP:0001125","author":[{"family":"transient unilateral blurred vision"},{"family":"hemianopic blurring"},{"family":"hemianoptic blurring of vision"},{"family":"Transient blurring of vision associated with the aura phase of migraine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001125","type":"entry-dictionary","title":"Transient unilateral blurring of vision"},{"container-title":"HP:0001126","author":[{"family":"Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001126","type":"entry-dictionary","title":"Cryptophthalmos"},{"container-title":"HP:0001128","author":[{"family":"trichiasis of eyelid eyelashes"},{"family":"ingrown eyelashes"},{"family":"introversion of eyelashes"},{"family":"Inversion and rubbing of the eyelashes against the globe of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001128","type":"entry-dictionary","title":"Trichiasis"},{"container-title":"HP:0001129","author":[{"family":"large central loss of field of vision"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001129","type":"entry-dictionary","title":"Large central visual field defect"},{"container-title":"HP:0001131","author":[{"family":"An abnormality of the cornea that is characterized by opacity of one or parts of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001131","type":"entry-dictionary","title":"Corneal dystrophy"},{"container-title":"HP:0001132","author":[{"family":"partially dislocated lens"},{"family":"Partial dislocation of the lens of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001132","type":"entry-dictionary","title":"Lens subluxation"},{"container-title":"HP:0001133","author":[{"family":"reduced visual fields"},{"family":"depressed visual field"},{"family":"limited peripheral vision"},{"family":"constricted visual fields"},{"family":"visual field constriction"},{"family":"concentric narrowing of visual field"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001133","type":"entry-dictionary","title":"Constriction of peripheral visual field"},{"container-title":"HP:0001134","author":[{"family":"A polar cataract that affects the anterior pole of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001134","type":"entry-dictionary","title":"Anterior polar cataract"},{"container-title":"HP:0001135","author":[{"family":"Chorioretinal dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001135","type":"entry-dictionary","title":"Chorioretinal dystrophy"},{"container-title":"HP:0001136","author":[{"family":"tortuous retinal arterioles"},{"family":"The presence of an increased number of twists and turns of the retinal arterioles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001136","type":"entry-dictionary","title":"Retinal arteriolar tortuosity"},{"container-title":"HP:0001137","author":[{"family":"alternating cross eyes"},{"family":"Esotropia in which either eye may be used for fixation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001137","type":"entry-dictionary","title":"Alternating esotropia"},{"container-title":"HP:0001138","author":[{"family":"damaged optic nerve"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001138","type":"entry-dictionary","title":"Optic neuropathy"},{"container-title":"HP:0001139","author":[{"family":"Choroideremia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001139","type":"entry-dictionary","title":"Choroideremia"},{"container-title":"HP:0001140","author":[{"family":"benign eye tumor"},{"family":"epibulbar dermoids"},{"family":"An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001140","type":"entry-dictionary","title":"Epibulbar dermoid"},{"container-title":"HP:0001141","author":[{"family":"marked vision impairment"},{"family":"severely impaired vision"},{"family":"severe visual impairment"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001141","type":"entry-dictionary","title":"Severe visual impairment"},{"container-title":"HP:0001142","author":[{"family":"A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001142","type":"entry-dictionary","title":"Lenticonus"},{"container-title":"HP:0001144","author":[{"family":"orbital cysts"},{"family":"cyst of eye socket"},{"family":"Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001144","type":"entry-dictionary","title":"Orbital cyst"},{"container-title":"HP:0001147","author":[{"family":"retinal exudates"},{"family":"Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001147","type":"entry-dictionary","title":"Retinal exudate"},{"container-title":"HP:0001149","author":[{"family":"biber haab dimmer dystrophy"},{"family":"The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001149","type":"entry-dictionary","title":"Lattice corneal dystrophy"},{"container-title":"HP:0001151","author":[{"family":"impaired horizontal visual pursuit"},{"family":"abnormal horizontal ocular pursuit"},{"family":"An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001151","type":"entry-dictionary","title":"Impaired horizontal smooth pursuit"},{"container-title":"HP:0001152","author":[{"family":"saccadic slow pursuit"},{"family":"saccadic pursuit movements"},{"family":"An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001152","type":"entry-dictionary","title":"Saccadic smooth pursuit"},{"container-title":"HP:0001153","author":[{"family":"double vagina"},{"family":"The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001153","type":"entry-dictionary","title":"Septate vagina"},{"container-title":"HP:0001155","author":[{"family":"abnormal hands"},{"family":"abnormality of the hand"},{"family":"hand anomalies"},{"family":"hand deformities"},{"family":"An abnormality affecting one or both hands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001155","type":"entry-dictionary","title":"Abnormality of the hand"},{"container-title":"HP:0001156","author":[{"family":"brachydactyly syndrome"},{"family":"Digits that appear disproportionately short compared to the hand\/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001156","type":"entry-dictionary","title":"Brachydactyly"},{"container-title":"HP:0001159","author":[{"family":"webbed fingers or toes"},{"family":"Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as \"symphalangism\"."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001159","type":"entry-dictionary","title":"Syndactyly"},{"container-title":"HP:0001161","author":[{"family":"extra finger"},{"family":"finger polydactyly"},{"family":"polydactyly of the hand"},{"family":"supernumerary finger"},{"family":"A kind of polydactyly characterized by the presence of a supernumerary finger or fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001161","type":"entry-dictionary","title":"Hand polydactyly"},{"container-title":"HP:0001162","author":[{"family":"postaxial polydactyly of hands"},{"family":"extra pinky finger"},{"family":"extra pinkie finger"},{"family":"extra little finger"},{"family":"postaxial polydactyly of fingers"},{"family":"polydactyly, postaxial"},{"family":"polydactyly affecting the 5th finger"},{"family":"Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001162","type":"entry-dictionary","title":"Postaxial hand polydactyly"},{"container-title":"HP:0001163","author":[{"family":"anomaly of the metacarpal bones"},{"family":"abnormality of the long bone of hand"},{"family":"An abnormality of the metacarpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001163","type":"entry-dictionary","title":"Abnormality of the metacarpal bones"},{"container-title":"HP:0001166","author":[{"family":"long slender fingers"},{"family":"spider slender fingers"},{"family":"long, slender fingers"},{"family":"Abnormally long and slender fingers (\"spider fingers\")."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001166","type":"entry-dictionary","title":"Arachnodactyly"},{"container-title":"HP:0001167","author":[{"family":"abnormalities of the fingers"},{"family":"abnormality of finger"},{"family":"An anomaly of a finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001167","type":"entry-dictionary","title":"Abnormality of finger"},{"container-title":"HP:0001169","author":[{"family":"broad palm"},{"family":"wide palm"},{"family":"broad hands"},{"family":"For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001169","type":"entry-dictionary","title":"Broad palm"},{"container-title":"HP:0001171","author":[{"family":"ectrodactyly of the hand"},{"family":"split hand"},{"family":"split-hand"},{"family":"claw hands"},{"family":"claw-hand deformities"},{"family":"hand ectrodactyly"},{"family":"claw hand deformities"},{"family":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001171","type":"entry-dictionary","title":"Split hand"},{"container-title":"HP:0001172","author":[{"family":"thumb deformity"},{"family":"abnormality of the thumbs"},{"family":"An anomaly of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001172","type":"entry-dictionary","title":"Abnormality of the thumb"},{"container-title":"HP:0001176","author":[{"family":"disproportionately large hands"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001176","type":"entry-dictionary","title":"Large hands"},{"container-title":"HP:0001177","author":[{"family":"thumb polydactyly"},{"family":"preaxial polydactyly of hands"},{"family":"polydactyly affecting the thumb"},{"family":"supernumerary thumb"},{"family":"extra thumb"},{"family":"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication\/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001177","type":"entry-dictionary","title":"Preaxial hand polydactyly"},{"container-title":"HP:0001178","author":[{"family":"An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001178","type":"entry-dictionary","title":"Ulnar claw"},{"container-title":"HP:0001180","author":[{"family":"A developmental defect resulting in the presence of fewer than the normal number of fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001180","type":"entry-dictionary","title":"Hand oligodactyly"},{"container-title":"HP:0001181","author":[{"family":"adducted thumbs"},{"family":"inward turned thumb"},{"family":"In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001181","type":"entry-dictionary","title":"Adducted thumb"},{"container-title":"HP:0001182","author":[{"family":"tapered fingertips"},{"family":"distally tapering fingers"},{"family":"tapered fingers"},{"family":"The gradual reduction in girth of the digit from proximal to distal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001182","type":"entry-dictionary","title":"Tapered finger"},{"container-title":"HP:0001187","author":[{"family":"hyperextensible fingers"},{"family":"hyperextensible digits"},{"family":"finger joint hyperextensibility"},{"family":"The ability of the finger joints to move beyond their normal range of motion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001187","type":"entry-dictionary","title":"Hyperextensibility of the finger joints"},{"container-title":"HP:0001188","author":[{"family":"hand clenching"},{"family":"clenched hands"},{"family":"An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001188","type":"entry-dictionary","title":"Hand clenching"},{"container-title":"HP:0001191","author":[{"family":"abnormal carpal bones"},{"family":"anomalous carpal bones"},{"family":"abnormal wrist bones"},{"family":"carpal bone anomalies"},{"family":"An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001191","type":"entry-dictionary","title":"Abnormality of the carpal bones"},{"container-title":"HP:0001193","author":[{"family":"Ulnar deviation of the hand or of fingers of the hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001193","type":"entry-dictionary","title":"Ulnar deviation of the hand or of fingers of the hand"},{"container-title":"HP:0001194","author":[{"family":"abnormalities of placenta or umbilical cord"},{"family":"An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001194","type":"entry-dictionary","title":"Abnormalities of placenta or umbilical cord"},{"container-title":"HP:0001195","author":[{"family":"Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001195","type":"entry-dictionary","title":"Single umbilical artery"},{"container-title":"HP:0001196","author":[{"family":"short umbilical cord"},{"family":"Decreased length of the umbilical cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001196","type":"entry-dictionary","title":"Short umbilical cord"},{"container-title":"HP:0001197","author":[{"family":"abnormality of prenatal development or birth"},{"family":"An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001197","type":"entry-dictionary","title":"Abnormality of prenatal development or birth"},{"container-title":"HP:0001199","author":[{"family":"triphalangy of thumb"},{"family":"digitalized thumb"},{"family":"finger-like thumb"},{"family":"accessory phalanx of the thumb"},{"family":"triphalangeal thumbs"},{"family":"A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001199","type":"entry-dictionary","title":"Triphalangeal thumb"},{"container-title":"HP:0001204","author":[{"family":"terminal symphalangism"},{"family":"symphalangism affecting the distal phalanges of the hand"},{"family":"fused outermost bones of hand"},{"family":"symphalangism, distal"},{"family":"synostosis of distal phalanges"},{"family":"The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001204","type":"entry-dictionary","title":"Distal symphalangism of hands"},{"container-title":"HP:0001211","author":[{"family":"abnormality of the fingertips"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001211","type":"entry-dictionary","title":"Abnormality of the fingertips"},{"container-title":"HP:0001212","author":[{"family":"persistence of fingerpads"},{"family":"prominent finger pads"},{"family":"prominent fingertip pads"},{"family":"persistent fetal fingertip pads"},{"family":"A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001212","type":"entry-dictionary","title":"Prominent fingertip pads"},{"container-title":"HP:0001215","author":[{"family":"The distal interphalangeal joint and\/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001215","type":"entry-dictionary","title":"Camptodactyly of 2nd-5th fingers"},{"container-title":"HP:0001216","author":[{"family":"delayed carpal ossification"},{"family":"delayed maturation of wrist bone"},{"family":"delayed carpal bone age"},{"family":"delayed maturation of carpal bones"},{"family":"carpal delayed ossification"},{"family":"Ossification of carpal bones occurs later than age-adjusted norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001216","type":"entry-dictionary","title":"Delayed ossification of carpal bones"},{"container-title":"HP:0001217","author":[{"family":"digital clubbing"},{"family":"clubbing of fingers and toes"},{"family":"Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001217","type":"entry-dictionary","title":"Clubbing"},{"container-title":"HP:0001218","author":[{"family":"Spontaneous detachment (amputation) of an appendage from the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001218","type":"entry-dictionary","title":"Autoamputation"},{"container-title":"HP:0001220","author":[{"family":"interphalangeal joint flexion contractures"},{"family":"Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001220","type":"entry-dictionary","title":"Interphalangeal joint contracture of finger"},{"container-title":"HP:0001222","author":[{"family":"spoon shaped thumbs"},{"family":"Spoon-shaped, broad thumbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001222","type":"entry-dictionary","title":"Spatulate thumbs"},{"container-title":"HP:0001223","author":[{"family":"All of the metacarpal bones of the hand have a pointed proximal appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001223","type":"entry-dictionary","title":"Pointed proximal second through fifth metacarpals"},{"container-title":"HP:0001225","author":[{"family":"wrist swelling"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001225","type":"entry-dictionary","title":"Wrist swelling"},{"container-title":"HP:0001226","author":[{"family":"acral ulceration and osteomyelitis leading to autoamputation"},{"family":"Ulceration and osteomyelitis of the distal parts of the limbs associated with necrosis and spontaneous detachment of digits or parts of digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001226","type":"entry-dictionary","title":"Acral ulceration and osteomyelitis leading to autoamputation of digits"},{"container-title":"HP:0001227","author":[{"family":"thenar abnormality"},{"family":"An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001227","type":"entry-dictionary","title":"Abnormality of the thenar eminence"},{"container-title":"HP:0001230","author":[{"family":"wide long bones of hand"},{"family":"wide metacarpals"},{"family":"Abnormally broad metacarpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001230","type":"entry-dictionary","title":"Broad metacarpals"},{"container-title":"HP:0001231","author":[{"family":"abnormal fingernails"},{"family":"abnormality of the fingernails"},{"family":"An abnormality of the fingernails."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001231","type":"entry-dictionary","title":"Abnormality of the fingernails"},{"container-title":"HP:0001232","author":[{"family":"nail bed telangiectases"},{"family":"Telangiectases in the area of the nails."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001232","type":"entry-dictionary","title":"Nail bed telangiectasia"},{"container-title":"HP:0001233","author":[{"family":"syndactyly, 2-3 finger"},{"family":"syndactyly 2nd-3rd fingers"},{"family":"webbed 2nd-3rd fingers"},{"family":"Syndactyly with fusion of fingers two and three."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001233","type":"entry-dictionary","title":"2-3 finger syndactyly"},{"container-title":"HP:0001234","author":[{"family":"hitchhiker thumb"},{"family":"abducted thumb"},{"family":"With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001234","type":"entry-dictionary","title":"Hitchhiker thumb"},{"container-title":"HP:0001238","author":[{"family":"slender fingers"},{"family":"thin fingers"},{"family":"narrow fingers"},{"family":"Digits are disproportionately narrow (reduced girth) for the hand\/foot size or build of the individual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001238","type":"entry-dictionary","title":"Slender finger"},{"container-title":"HP:0001239","author":[{"family":"wrist flexion deformity"},{"family":"wrist contracture"},{"family":"A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001239","type":"entry-dictionary","title":"Wrist flexion contracture"},{"container-title":"HP:0001241","author":[{"family":"fused capitate and hamate"},{"family":"capitate-hamate fusions"},{"family":"fusion of hamate and capitate"},{"family":"fusion of capitate and hamate"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001241","type":"entry-dictionary","title":"Capitate-hamate fusion"},{"container-title":"HP:0001245","author":[{"family":"thenar muscle hypoplasia"},{"family":"hypoplastic thenar eminences"},{"family":"thenar hypoplasia"},{"family":"Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001245","type":"entry-dictionary","title":"Small thenar eminence"},{"container-title":"HP:0001248","author":[{"family":"shortened short tubular bones of the hand"},{"family":"Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001248","type":"entry-dictionary","title":"Short tubular bones of the hand"},{"container-title":"HP:0001249","author":[{"family":"mental deficiency"},{"family":"poor school performance"},{"family":"dull intelligence"},{"family":"mental retardation, nonspecific"},{"family":"nonprogressive intellectual disability"},{"family":"mental-retardation"},{"family":"nonprogressive mental retardation"},{"family":"low intelligence"},{"family":"Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001249","type":"entry-dictionary","title":"Intellectual disability"},{"container-title":"HP:0001250","author":[{"family":"epilepsy"},{"family":"seizures"},{"family":"Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001250","type":"entry-dictionary","title":"Seizures"},{"container-title":"HP:0001251","author":[{"family":"cerebellar ataxia"},{"family":"Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001251","type":"entry-dictionary","title":"Ataxia"},{"container-title":"HP:0001252","author":[{"family":"muscle hypotonia"},{"family":"low or weak muscle tone"},{"family":"Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001252","type":"entry-dictionary","title":"Muscular hypotonia"},{"container-title":"HP:0001254","author":[{"family":"lethargy"},{"family":"A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001254","type":"entry-dictionary","title":"Lethargy"},{"container-title":"HP:0001256","author":[{"family":"mental retardation, borderline-mild"},{"family":"mental retardation, mild"},{"family":"mild mental retardation"},{"family":"intellectual disability, mild"},{"family":"mild and nonprogressive mental retardation"},{"family":"Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001256","type":"entry-dictionary","title":"Intellectual disability, mild"},{"container-title":"HP:0001257","author":[{"family":"muscle spasticity"},{"family":"muscular spasticity"},{"family":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001257","type":"entry-dictionary","title":"Spasticity"},{"container-title":"HP:0001258","author":[{"family":"spastic paraplegia, lower limb"},{"family":"Spasticity and weakness of the leg and hip muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001258","type":"entry-dictionary","title":"Spastic paraplegia"},{"container-title":"HP:0001259","author":[{"family":"coma"},{"family":"Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001259","type":"entry-dictionary","title":"Coma"},{"container-title":"HP:0001260","author":[{"family":"difficulty articulating speech"},{"family":"dysarthric speech"},{"family":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001260","type":"entry-dictionary","title":"Dysarthria"},{"container-title":"HP:0001262","author":[{"family":"A state of abnormally strong desire for sleep during the daytime."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001262","type":"entry-dictionary","title":"Excessive daytime somnolence"},{"container-title":"HP:0001263","author":[{"family":"delayed developmental milestones"},{"family":"mental and motor retardation"},{"family":"developmental delay, global"},{"family":"retarded development"},{"family":"psychomotor delay"},{"family":"retarded mental development"},{"family":"motor and developmental delay"},{"family":"delayed milestones"},{"family":"psychomotor development failure"},{"family":"psychomotor developmental delay"},{"family":"developmental delay in early childhood"},{"family":"psychomotor retardation"},{"family":"psychomotor development deficiency"},{"family":"lack of psychomotor development"},{"family":"delayed intellectual development"},{"family":"delayed cognitive development"},{"family":"retarded psychomotor development"},{"family":"delayed psychomotor development"},{"family":"cognitive delay"},{"family":"developmental retardation"},{"family":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001263","type":"entry-dictionary","title":"Global developmental delay"},{"container-title":"HP:0001264","author":[{"family":"Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001264","type":"entry-dictionary","title":"Spastic diplegia"},{"container-title":"HP:0001265","author":[{"family":"depressed tendon reflexes"},{"family":"decreased tendon reflexes"},{"family":"diminished deep tendon reflexes"},{"family":"decreased deep tendon reflexes"},{"family":"Reduction of neurologic reflexes such as the knee-jerk reaction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001265","type":"entry-dictionary","title":"Hyporeflexia"},{"container-title":"HP:0001266","author":[{"family":"choreoathetoid movements"},{"family":"Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001266","type":"entry-dictionary","title":"Choreoathetosis"},{"container-title":"HP:0001268","author":[{"family":"mental deterioration"},{"family":"cognitive decline, progressive"},{"family":"intellectual deterioration"},{"family":"progressive cognitive decline"},{"family":"Loss of previously present mental abilities, generally in adults."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001268","type":"entry-dictionary","title":"Mental deterioration"},{"container-title":"HP:0001269","author":[{"family":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001269","type":"entry-dictionary","title":"Hemiparesis"},{"container-title":"HP:0001270","author":[{"family":"motor developmental delay"},{"family":"motor developmental milestones not achieved"},{"family":"delayed early motor milestones"},{"family":"locomotor delay"},{"family":"delayed motor development"},{"family":"delayed motor milestones"},{"family":"retarded motor development"},{"family":"no development of motor milestones"},{"family":"motor retardation"},{"family":"delay in motor development"},{"family":"A type of Developmental delay characterized by a delay in acquiring motor skills."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001270","type":"entry-dictionary","title":"Motor delay"},{"container-title":"HP:0001271","author":[{"family":"peripheral nerve disease"},{"family":"A generalized disorder of peripheral nerves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001271","type":"entry-dictionary","title":"Polyneuropathy"},{"container-title":"HP:0001272","author":[{"family":"infratentorial atrophy"},{"family":"degeneration of cerebellum"},{"family":"Atrophy (wasting) of the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001272","type":"entry-dictionary","title":"Cerebellar atrophy"},{"container-title":"HP:0001273","author":[{"family":"abnormal corpus callosum"},{"family":"corpus callosum abnormality"},{"family":"Abnormality of the corpus callosum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001273","type":"entry-dictionary","title":"Abnormality of the corpus callosum"},{"container-title":"HP:0001274","author":[{"family":"dysplastic or absent corpus callosum"},{"family":"callosal agenesis"},{"family":"agenesis of the corpus callosum"},{"family":"absence of corpus callosum"},{"family":"corpus callosum agenesis"},{"family":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001274","type":"entry-dictionary","title":"Agenesis of corpus callosum"},{"container-title":"HP:0001276","author":[{"family":"muscle hypertonia"},{"family":"increased muscle tone"},{"family":"hypertonicity"},{"family":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001276","type":"entry-dictionary","title":"Hypertonia"},{"container-title":"HP:0001278","author":[{"family":"postural hypotension"},{"family":"A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001278","type":"entry-dictionary","title":"Orthostatic hypotension"},{"container-title":"HP:0001279","author":[{"family":"fainting spell"},{"family":"Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001279","type":"entry-dictionary","title":"Syncope"},{"container-title":"HP:0001281","author":[{"family":"Tetany"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001281","type":"entry-dictionary","title":"Tetany"},{"container-title":"HP:0001283","author":[{"family":"bulbar muscle weakness"},{"family":"bulbar weakness"},{"family":"bulbar palsies"},{"family":"Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001283","type":"entry-dictionary","title":"Bulbar palsy"},{"container-title":"HP:0001284","author":[{"family":"loss of deep tendon reflexes"},{"family":"absent tendon reflexes"},{"family":"deep tendon reflexes absent"},{"family":"absent deep tendon reflexes"},{"family":"Absence of neurologic reflexes such as the knee-jerk reaction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001284","type":"entry-dictionary","title":"Areflexia"},{"container-title":"HP:0001285","author":[{"family":"spastic quadriparesis"},{"family":"Spastic weakness affecting all four limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001285","type":"entry-dictionary","title":"Spastic tetraparesis"},{"container-title":"HP:0001287","author":[{"family":"Inflammation of the meninges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001287","type":"entry-dictionary","title":"Meningitis"},{"container-title":"HP:0001288","author":[{"family":"gait abnormalities"},{"family":"gait disturbances"},{"family":"abnormal gait"},{"family":"gait difficulties"},{"family":"abnormal walk"},{"family":"impaired gait"},{"family":"The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001288","type":"entry-dictionary","title":"Gait disturbance"},{"container-title":"HP:0001289","author":[{"family":"easily confused"},{"family":"mental disorientation"},{"family":"confusion"},{"family":"Lack of clarity and coherence of thought, perception, understanding, or action."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001289","type":"entry-dictionary","title":"Confusion"},{"container-title":"HP:0001290","author":[{"family":"hypotonia, generalized"},{"family":"generalized muscular hypotonia"},{"family":"low muscle tone"},{"family":"decreased muscle tone"},{"family":"Generalized muscular hypotonia (abnormally low muscle tone)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001290","type":"entry-dictionary","title":"Generalized hypotonia"},{"container-title":"HP:0001291","author":[{"family":"cranial nerve abnormality"},{"family":"cranial nerve disease"},{"family":"cranial nerve involvement"},{"family":"Abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001291","type":"entry-dictionary","title":"Abnormality of the cranial nerves"},{"container-title":"HP:0001293","author":[{"family":"Cranial nerve compression"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001293","type":"entry-dictionary","title":"Cranial nerve compression"},{"container-title":"HP:0001297","author":[{"family":"cerebrovascular accidents"},{"family":"cerebral vascular events"},{"family":"stroke"},{"family":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001297","type":"entry-dictionary","title":"Stroke"},{"container-title":"HP:0001298","author":[{"family":"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001298","type":"entry-dictionary","title":"Encephalopathy"},{"container-title":"HP:0001300","author":[{"family":"parkinsonian disease"},{"family":"Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001300","type":"entry-dictionary","title":"Parkinsonism"},{"container-title":"HP:0001301","author":[{"family":"Chronic sensorineural polyneuropathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001301","type":"entry-dictionary","title":"Chronic sensorineural polyneuropathy"},{"container-title":"HP:0001302","author":[{"family":"cerebral pachygyria"},{"family":"A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001302","type":"entry-dictionary","title":"Pachygyria"},{"container-title":"HP:0001304","author":[{"family":"dystonia musculorum deformans"},{"family":"Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001304","type":"entry-dictionary","title":"Torsion dystonia"},{"container-title":"HP:0001305","author":[{"family":"dandy-walker anomaly"},{"family":"dandy-walker cyst"},{"family":"A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001305","type":"entry-dictionary","title":"Dandy-Walker malformation"},{"container-title":"HP:0001308","author":[{"family":"lingual fibrillations"},{"family":"twitching of the tongue"},{"family":"lingual twitching"},{"family":"tongue twitching"},{"family":"lingual fasciculations"},{"family":"tongue fasciculations\/fibrillations"},{"family":"Fasciculations or fibrillation affecting the tongue muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001308","type":"entry-dictionary","title":"Tongue fasciculations"},{"container-title":"HP:0001310","author":[{"family":"A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001310","type":"entry-dictionary","title":"Dysmetria"},{"container-title":"HP:0001311","author":[{"family":"neurophysiologic abnormality"},{"family":"neurophysiologic abnormalities"},{"family":"An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001311","type":"entry-dictionary","title":"Abnormal nervous system electrophysiology"},{"container-title":"HP:0001312","author":[{"family":"giant seps"},{"family":"An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001312","type":"entry-dictionary","title":"Giant somatosensory evoked potentials"},{"container-title":"HP:0001315","author":[{"family":"absent or decreased deep tendon reflexes"},{"family":"decreased\/absent deep tendon reflexes"},{"family":"reduced\/absent deep tendon reflexes"},{"family":"hypoactive to absent deep tendon reflexes"},{"family":"diminished or absent deep tendon reflexes"},{"family":"diminished or absent tendon reflexes"},{"family":"decreased to absent deep tendon reflexes"},{"family":"weak or absent deep tendon reflexes"},{"family":"impaired tendon reflexes"},{"family":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001315","type":"entry-dictionary","title":"Reduced tendon reflexes"},{"container-title":"HP:0001317","author":[{"family":"cerebellar signs"},{"family":"cerebellar anomaly"},{"family":"cerebellar abnormalities"},{"family":"abnormality of the cerebellum"},{"family":"cerebellar abnormality"},{"family":"An abnormality of the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001317","type":"entry-dictionary","title":"Abnormality of the cerebellum"},{"container-title":"HP:0001319","author":[{"family":"hypotonia, in neonatal onset"},{"family":"low muscle tone, in neonatal onset"},{"family":"hypotonia, neonatal"},{"family":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001319","type":"entry-dictionary","title":"Neonatal hypotonia"},{"container-title":"HP:0001320","author":[{"family":"hypoplasia of the cerebellar vermis"},{"family":"cerebellar vermal hypoplasia"},{"family":"hypoplastic cerebellar vermis"},{"family":"Underdevelopment of the vermis of cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001320","type":"entry-dictionary","title":"Cerebellar vermis hypoplasia"},{"container-title":"HP:0001321","author":[{"family":"small cerebellum"},{"family":"hypoplastic cerebellum"},{"family":"hypoplasia of cerebellum"},{"family":"congenital cerebellar hypoplasia"},{"family":"underdeveloped cerebellum"},{"family":"Underdevelopment of the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001321","type":"entry-dictionary","title":"Cerebellar hypoplasia"},{"container-title":"HP:0001322","author":[{"family":"brain very small"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001322","type":"entry-dictionary","title":"Brain very small"},{"container-title":"HP:0001324","author":[{"family":"muscle weakness"},{"family":"muscular weakness"},{"family":"Reduced strength of muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001324","type":"entry-dictionary","title":"Muscle weakness"},{"container-title":"HP:0001325","author":[{"family":"loss of consciousness due to hypoglycemia"},{"family":"hypoglycaemic coma"},{"family":"coma, hypoglycemic"},{"family":"coma caused by low blood sugar"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001325","type":"entry-dictionary","title":"Hypoglycemic coma"},{"container-title":"HP:0001326","author":[{"family":"EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001326","type":"entry-dictionary","title":"EEG with irregular generalized spike and wave complexes"},{"container-title":"HP:0001327","author":[{"family":"Photomyoclonic seizures"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001327","type":"entry-dictionary","title":"Photomyoclonic seizures"},{"container-title":"HP:0001328","author":[{"family":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001328","type":"entry-dictionary","title":"Specific learning disability"},{"container-title":"HP:0001331","author":[{"family":"absence of septum pellucidum"},{"family":"agenesis of the septum pellucidum"},{"family":"absence of the septum pellucidum"},{"family":"Absence of the septum pellucidum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001331","type":"entry-dictionary","title":"Absent septum pellucidum"},{"container-title":"HP:0001332","author":[{"family":"dystonic movements"},{"family":"dystonic disease"},{"family":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001332","type":"entry-dictionary","title":"Dystonia"},{"container-title":"HP:0001334","author":[{"family":"A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001334","type":"entry-dictionary","title":"Communicating hydrocephalus"},{"container-title":"HP:0001335","author":[{"family":"hand mirror movements"},{"family":"mirror hand movements"},{"family":"Mirror hand movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001335","type":"entry-dictionary","title":"Bimanual synkinesia"},{"container-title":"HP:0001336","author":[{"family":"myoclonic jerks"},{"family":"involuntary jerking movements"},{"family":"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001336","type":"entry-dictionary","title":"Myoclonus"},{"container-title":"HP:0001337","author":[{"family":"tremors"},{"family":"An unintentional, oscillating to-and-fro muscle movement about a joint axis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001337","type":"entry-dictionary","title":"Tremor"},{"container-title":"HP:0001338","author":[{"family":"partial or complete agenesis of the corpus callosum"},{"family":"partial to complete agenesis of corpus callosum"},{"family":"partial-total agenesis of corpus callosum"},{"family":"partial corpus callosum agenesis"},{"family":"corpus callosum agenesis, partial"},{"family":"partial agenesis of corpus callosum"},{"family":"partial or complete agenesis of corpus callosum"},{"family":"A partial failure of the development of the corpus callosum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001338","type":"entry-dictionary","title":"Partial agenesis of the corpus callosum"},{"container-title":"HP:0001339","author":[{"family":"agyria"},{"family":"A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001339","type":"entry-dictionary","title":"Lissencephaly"},{"container-title":"HP:0001340","author":[{"family":"Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001340","type":"entry-dictionary","title":"Enhancement of the C-reflex"},{"container-title":"HP:0001341","author":[{"family":"olfactory lobe absence"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001341","type":"entry-dictionary","title":"Olfactory lobe agenesis"},{"container-title":"HP:0001342","author":[{"family":"intracerebral hemorrhage"},{"family":"hemorrhagic stroke"},{"family":"Hemorrhage into the parenchyma of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001342","type":"entry-dictionary","title":"Cerebral hemorrhage"},{"container-title":"HP:0001343","author":[{"family":"Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001343","type":"entry-dictionary","title":"Kernicterus"},{"container-title":"HP:0001344","author":[{"family":"no speech or language development"},{"family":"absent speech development"},{"family":"lack of speech"},{"family":"no speech development"},{"family":"lack of language development"},{"family":"nonverbal"},{"family":"Complete lack of development of speech and language abilities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001344","type":"entry-dictionary","title":"Absent speech"},{"container-title":"HP:0001345","author":[{"family":"Psychotic mentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001345","type":"entry-dictionary","title":"Psychotic mentation"},{"container-title":"HP:0001347","author":[{"family":"increased reflexes"},{"family":"increased deep tendon reflexes"},{"family":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001347","type":"entry-dictionary","title":"Hyperreflexia"},{"container-title":"HP:0001348","author":[{"family":"Brisk reflexes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001348","type":"entry-dictionary","title":"Brisk reflexes"},{"container-title":"HP:0001349","author":[{"family":"bilateral facial weakness"},{"family":"facial paresis, bilateral"},{"family":"Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001349","type":"entry-dictionary","title":"Facial diplegia"},{"container-title":"HP:0001350","author":[{"family":"slurred speech"},{"family":"Abnormal coordination of muscles involved in speech."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001350","type":"entry-dictionary","title":"Slurred speech"},{"container-title":"HP:0001351","author":[{"family":"Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001351","type":"entry-dictionary","title":"Jerk-locked premyoclonus spikes"},{"container-title":"HP:0001355","author":[{"family":"macrencephaly"},{"family":"Enlargement of all or parts of the cerebral hemispheres."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001355","type":"entry-dictionary","title":"Megalencephaly"},{"container-title":"HP:0001357","author":[{"family":"rhomboid shaped skull"},{"family":"flat head syndrome"},{"family":"flattening of cranial vault"},{"family":"flattening of head"},{"family":"asymmetry of the posterior head"},{"family":"positional plagiocephaly"},{"family":"flattening of skull"},{"family":"rhomboid shaped cranium"},{"family":"asymmetry of the posterior skull"},{"family":"deformational plagiocephaly"},{"family":"asymmetry of the posterior cranium"},{"family":"rhomboid shaped head"},{"family":"flattening of cranium"},{"family":"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001357","type":"entry-dictionary","title":"Plagiocephaly"},{"container-title":"HP:0001360","author":[{"family":"single brain ventricle"},{"family":"Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001360","type":"entry-dictionary","title":"Holoprosencephaly"},{"container-title":"HP:0001361","author":[{"family":"Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001361","type":"entry-dictionary","title":"Nystagmus-induced head nodding"},{"container-title":"HP:0001362","author":[{"family":"cranial defect"},{"family":"calvarial defect"},{"family":"skull defect"},{"family":"A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001362","type":"entry-dictionary","title":"Calvarial skull defect"},{"container-title":"HP:0001363","author":[{"family":"premature fontanel closure"},{"family":"premature closure of cranial sutures"},{"family":"deformity of the skull"},{"family":"craniosyostosis"},{"family":"premature suture closure"},{"family":"craniostenosis"},{"family":"cranial suture synostosis"},{"family":"early fusion of cranial sutures"},{"family":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001363","type":"entry-dictionary","title":"Craniosynostosis"},{"container-title":"HP:0001367","author":[{"family":"abnormality of the joints"},{"family":"anomaly of the joints"},{"family":"abnormal shape of joints"},{"family":"joint disease"},{"family":"An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001367","type":"entry-dictionary","title":"Abnormal joint morphology"},{"container-title":"HP:0001369","author":[{"family":"joint inflammation"},{"family":"arthritis"},{"family":"Inflammation of a joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001369","type":"entry-dictionary","title":"Arthritis"},{"container-title":"HP:0001370","author":[{"family":"rheumatoid arthritis"},{"family":"Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001370","type":"entry-dictionary","title":"Rheumatoid arthritis"},{"container-title":"HP:0001371","author":[{"family":"joint contractures"},{"family":"flexion contractures of joints"},{"family":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001371","type":"entry-dictionary","title":"Flexion contracture"},{"container-title":"HP:0001373","author":[{"family":"recurrent joint dislocations"},{"family":"Displacement or malalignment of joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001373","type":"entry-dictionary","title":"Joint dislocation"},{"container-title":"HP:0001374","author":[{"family":"congenital dislocation of the hips"},{"family":"congenital hip anomaly"},{"family":"congenital hip dislocations"},{"family":"dislocated hip since birth"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001374","type":"entry-dictionary","title":"Congenital hip dislocation"},{"container-title":"HP:0001376","author":[{"family":"limited joint motion"},{"family":"decreased mobility of joints"},{"family":"limitation of joint mobility"},{"family":"limited joint mobility"},{"family":"decreased joint mobility"},{"family":"A reduction in the freedom of movement of one or more joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001376","type":"entry-dictionary","title":"Limitation of joint mobility"},{"container-title":"HP:0001377","author":[{"family":"limited elbow extension"},{"family":"elbow limited extension"},{"family":"decreased elbow extension"},{"family":"limited forearm extension"},{"family":"limitation of elbow extension"},{"family":"restricted elbow extension"},{"family":"limited extension at elbows"},{"family":"Limited ability to straighten the arm at the elbow joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001377","type":"entry-dictionary","title":"Limited elbow extension"},{"container-title":"HP:0001382","author":[{"family":"joint hyperextensibility"},{"family":"double-jointed"},{"family":"increased mobility of joints"},{"family":"flexible joints"},{"family":"hyperextensible joints"},{"family":"The ability of a joint to move beyond its normal range of motion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001382","type":"entry-dictionary","title":"Joint hypermobility"},{"container-title":"HP:0001384","author":[{"family":"abnormality of the hip joints"},{"family":"An abnormality of the hip joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001384","type":"entry-dictionary","title":"Abnormality of the hip joint"},{"container-title":"HP:0001385","author":[{"family":"congenital hip dysplasia"},{"family":"The presence of developmental dysplasia of the hip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001385","type":"entry-dictionary","title":"Hip dysplasia"},{"container-title":"HP:0001386","author":[{"family":"joint swelling"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001386","type":"entry-dictionary","title":"Joint swelling"},{"container-title":"HP:0001387","author":[{"family":"joint stiffness"},{"family":"stiff joints"},{"family":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001387","type":"entry-dictionary","title":"Joint stiffness"},{"container-title":"HP:0001388","author":[{"family":"loosejointedness"},{"family":"loose-jointedness"},{"family":"joint instability"},{"family":"lax joints"},{"family":"joint ligamentous laxity"},{"family":"Lack of stability of a joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001388","type":"entry-dictionary","title":"Joint laxity"},{"container-title":"HP:0001392","author":[{"family":"liver abnormality"},{"family":"liver disease"},{"family":"abnormal liver"},{"family":"abnormality of the liver"},{"family":"An abnormality of the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001392","type":"entry-dictionary","title":"Abnormality of the liver"},{"container-title":"HP:0001394","author":[{"family":"hepatic cirrhosis"},{"family":"liver cirrhosis"},{"family":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001394","type":"entry-dictionary","title":"Cirrhosis"},{"container-title":"HP:0001395","author":[{"family":"The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001395","type":"entry-dictionary","title":"Hepatic fibrosis"},{"container-title":"HP:0001396","author":[{"family":"Impairment of bile flow due to obstruction in bile ducts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001396","type":"entry-dictionary","title":"Cholestasis"},{"container-title":"HP:0001397","author":[{"family":"liver steatosis"},{"family":"fatty liver"},{"family":"fatty infiltration of liver"},{"family":"The presence of steatosis in the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001397","type":"entry-dictionary","title":"Hepatic steatosis"},{"container-title":"HP:0001399","author":[{"family":"liver failure"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001399","type":"entry-dictionary","title":"Hepatic failure"},{"container-title":"HP:0001401","author":[{"family":"Intrahepatic biliary dysgenesis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001401","type":"entry-dictionary","title":"Intrahepatic biliary dysgenesis"},{"container-title":"HP:0001402","author":[{"family":"increased incidence of hepatocellular carcinoma"},{"family":"increased hepatocellular carcinoma risk"},{"family":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001402","type":"entry-dictionary","title":"Hepatocellular carcinoma"},{"container-title":"HP:0001403","author":[{"family":"macrovesicular steatosis"},{"family":"A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001403","type":"entry-dictionary","title":"Macrovesicular hepatic steatosis"},{"container-title":"HP:0001404","author":[{"family":"death of liver cells"},{"family":"hepatocellular loss"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001404","type":"entry-dictionary","title":"Hepatocellular necrosis"},{"container-title":"HP:0001405","author":[{"family":"The presence of fibrosis affecting the interlobular stroma of liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001405","type":"entry-dictionary","title":"Periportal fibrosis"},{"container-title":"HP:0001406","author":[{"family":"Impairment of bile flow due to obstruction in the small bile ducts within the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001406","type":"entry-dictionary","title":"Intrahepatic cholestasis"},{"container-title":"HP:0001407","author":[{"family":"liver cysts"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001407","type":"entry-dictionary","title":"Hepatic cysts"},{"container-title":"HP:0001408","author":[{"family":"proliferation of bile canaliculi"},{"family":"Proliferative changes of the bile ducts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001408","type":"entry-dictionary","title":"Bile duct proliferation"},{"container-title":"HP:0001409","author":[{"family":"Increased pressure in the portal vein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001409","type":"entry-dictionary","title":"Portal hypertension"},{"container-title":"HP:0001410","author":[{"family":"decreased liver function"},{"family":"liver dysfunction, mild"},{"family":"Reduced ability of the liver to perform its functions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001410","type":"entry-dictionary","title":"Decreased liver function"},{"container-title":"HP:0001412","author":[{"family":"Inflammation of the liver due to infection with enterovirus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001412","type":"entry-dictionary","title":"Enteroviral hepatitis"},{"container-title":"HP:0001413","author":[{"family":"A type of cirrhosis characterized by the presence of small regenerative nodules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001413","type":"entry-dictionary","title":"Micronodular cirrhosis"},{"container-title":"HP:0001414","author":[{"family":"microvesicular steatosis"},{"family":"A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001414","type":"entry-dictionary","title":"Microvesicular hepatic steatosis"},{"container-title":"HP:0001417","author":[{"family":"x-linked form"},{"family":"A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001417","type":"entry-dictionary","title":"X-linked inheritance"},{"container-title":"HP:0001419","author":[{"family":"x-linked recessive"},{"family":"A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001419","type":"entry-dictionary","title":"X-linked recessive inheritance"},{"container-title":"HP:0001421","author":[{"family":"abnormal hand muscles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001421","type":"entry-dictionary","title":"Abnormality of the musculature of the hand"},{"container-title":"HP:0001423","author":[{"family":"x-linked dominant"},{"family":"A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001423","type":"entry-dictionary","title":"X-linked dominant inheritance"},{"container-title":"HP:0001425","author":[{"family":"heterogeneity."},{"family":"heterogeneous."},{"family":"genetic heterogeneity"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001425","type":"entry-dictionary","title":"Heterogeneous"},{"container-title":"HP:0001426","author":[{"family":"A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001426","type":"entry-dictionary","title":"Multifactorial inheritance"},{"container-title":"HP:0001427","author":[{"family":"mitochondrial"},{"family":"A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001427","type":"entry-dictionary","title":"Mitochondrial inheritance"},{"container-title":"HP:0001428","author":[{"family":"A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001428","type":"entry-dictionary","title":"Somatic mutation"},{"container-title":"HP:0001430","author":[{"family":"abnormal calf muscles"},{"family":"abnormality of calf musculature"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001430","type":"entry-dictionary","title":"Abnormality of the calf musculature"},{"container-title":"HP:0001433","author":[{"family":"enlarged liver and spleen"},{"family":"Simultaneous enlargement of the liver and spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001433","type":"entry-dictionary","title":"Hepatosplenomegaly"},{"container-title":"HP:0001435","author":[{"family":"abnormality of shoulder musculature"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001435","type":"entry-dictionary","title":"Abnormality of the shoulder girdle musculature"},{"container-title":"HP:0001436","author":[{"family":"abnormal foot muscles"},{"family":"An anomaly of the musculature of foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001436","type":"entry-dictionary","title":"Abnormality of the foot musculature"},{"container-title":"HP:0001437","author":[{"family":"Abnormality of the musculature of the lower limbs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001437","type":"entry-dictionary","title":"Abnormality of the musculature of the lower limbs"},{"container-title":"HP:0001438","author":[{"family":"abnormality of the abdomen"},{"family":"abnormality of abdomen morphology"},{"family":"abdomen abnormality"},{"family":"A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001438","type":"entry-dictionary","title":"Abnormality of abdomen morphology"},{"container-title":"HP:0001440","author":[{"family":"fusion of the long bones of the feet"},{"family":"fusion of metatarsals"},{"family":"synostosis involving metatarsal bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001440","type":"entry-dictionary","title":"Metatarsal synostosis"},{"container-title":"HP:0001441","author":[{"family":"abnormal thigh muscles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001441","type":"entry-dictionary","title":"Abnormality of the musculature of the thigh"},{"container-title":"HP:0001442","author":[{"family":"The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001442","type":"entry-dictionary","title":"Somatic mosaicism"},{"container-title":"HP:0001443","author":[{"family":"abnormality of glutes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001443","type":"entry-dictionary","title":"Abnormality of the gluteal musculature"},{"container-title":"HP:0001444","author":[{"family":"Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001444","type":"entry-dictionary","title":"Autosomal dominant somatic cell mutation"},{"container-title":"HP:0001445","author":[{"family":"Abnormality of the hip-girdle musculature"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001445","type":"entry-dictionary","title":"Abnormality of the hip-girdle musculature"},{"container-title":"HP:0001446","author":[{"family":"abnormal upper limb muscles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001446","type":"entry-dictionary","title":"Abnormality of the musculature of the upper limbs"},{"container-title":"HP:0001449","author":[{"family":"duplication of long bones of foot"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001449","type":"entry-dictionary","title":"Duplication of metatarsal bones"},{"container-title":"HP:0001450","author":[{"family":"A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001450","type":"entry-dictionary","title":"Y-linked inheritance"},{"container-title":"HP:0001452","author":[{"family":"Autosomal dominant contiguous gene syndrome"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001452","type":"entry-dictionary","title":"Autosomal dominant contiguous gene syndrome"},{"container-title":"HP:0001454","author":[{"family":"Abnormality of the upper arm"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001454","type":"entry-dictionary","title":"Abnormality of the upper arm"},{"container-title":"HP:0001457","author":[{"family":"Abnormality of the musculature of the upper arm"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001457","type":"entry-dictionary","title":"Abnormality of the musculature of the upper arm"},{"container-title":"HP:0001459","author":[{"family":"webbed 1st-3rd toes"},{"family":"Syndactyly with fusion of toes one to three."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001459","type":"entry-dictionary","title":"1-3 toe syndactyly"},{"container-title":"HP:0001460","author":[{"family":"absent\/underdeveloped skeletal muscles"},{"family":"absent\/small skeletal muscles"},{"family":"Absence or underdevelopment of the musculature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001460","type":"entry-dictionary","title":"Aplasia\/Hypoplasia involving the skeletal musculature"},{"container-title":"HP:0001464","author":[{"family":"absent\/small shoulder muscles"},{"family":"absent\/underdeveloped shoulder muscles"},{"family":"Absence or underdevelopment of the muscles of the shoulder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001464","type":"entry-dictionary","title":"Aplasia\/Hypoplasia involving the shoulder musculature"},{"container-title":"HP:0001465","author":[{"family":"wasting of shoulder muscles"},{"family":"shoulder muscle degeneration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001465","type":"entry-dictionary","title":"Amyotrophy involving the shoulder musculature"},{"container-title":"HP:0001466","author":[{"family":"Contiguous gene syndrome"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001466","type":"entry-dictionary","title":"Contiguous gene syndrome"},{"container-title":"HP:0001467","author":[{"family":"absent\/underdeveloped upper limb muscles"},{"family":"absent\/small upper limb muscles"},{"family":"Absence or underdevelopment of the musculature of the upper limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001467","type":"entry-dictionary","title":"Aplasia\/Hypoplasia involving the musculature of the upper limbs"},{"container-title":"HP:0001468","author":[{"family":"absent\/underdeveloped upper arm muscles"},{"family":"absent\/small upper arm muscles"},{"family":"Absence or underdevelopment of the muscles of the upper arm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001468","type":"entry-dictionary","title":"Aplasia\/Hypoplasia involving the musculature of the upper arm"},{"container-title":"HP:0001469","author":[{"family":"Abnormality of the musculature of the pelvis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001469","type":"entry-dictionary","title":"Abnormality of the musculature of the pelvis"},{"container-title":"HP:0001470","author":[{"family":"Sex-limited autosomal dominant"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001470","type":"entry-dictionary","title":"Sex-limited autosomal dominant"},{"container-title":"HP:0001471","author":[{"family":"absent\/underdeveloped pelvis muscles"},{"family":"absent\/small pelvis muscles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001471","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the musculature of the pelvis"},{"container-title":"HP:0001472","author":[{"family":"The observed inheritance for a particular genetic trait or disorder has a higher frequency within the same family, whether the etiology is genetic or environmental, or a combination of the two."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001472","type":"entry-dictionary","title":"Familial predisposition"},{"container-title":"HP:0001473","author":[{"family":"osteolysis involving metatarsal bones"},{"family":"Osteolysis involving metatarsal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001473","type":"entry-dictionary","title":"Metatarsal osteolysis"},{"container-title":"HP:0001474","author":[{"family":"Increased density of the bony tissue of the scapula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001474","type":"entry-dictionary","title":"Sclerotic scapulae"},{"container-title":"HP:0001475","author":[{"family":"Male-limited autosomal dominant"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001475","type":"entry-dictionary","title":"Male-limited autosomal dominant"},{"container-title":"HP:0001476","author":[{"family":"delayed closure of the bregma sutures"},{"family":"late closure of soft spot on the skull"},{"family":"late closure of large anterior fontanel"},{"family":"late closure of anterior fontanelle"},{"family":"delayed closure of anterior fontanelle"},{"family":"delayed closure of the soft spot on the skull"},{"family":"delayed closure anterior fontanel"},{"family":"late closure of the bregma sutures"},{"family":"persistent anterior fontanelle"},{"family":"A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001476","type":"entry-dictionary","title":"Delayed closure of the anterior fontanelle"},{"container-title":"HP:0001477","author":[{"family":"compensatory head tilt\/chin elevation"},{"family":"A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001477","type":"entry-dictionary","title":"Compensatory chin elevation"},{"container-title":"HP:0001480","author":[{"family":"freckling"},{"family":"The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001480","type":"entry-dictionary","title":"Freckling"},{"container-title":"HP:0001482","author":[{"family":"multiple, subcutaneous nodules"},{"family":"firm lump under the skin"},{"family":"nodule below the skin"},{"family":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001482","type":"entry-dictionary","title":"Subcutaneous nodule"},{"container-title":"HP:0001483","author":[{"family":"Repetitive pressing, poking, and\/or rubbing in the eyes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001483","type":"entry-dictionary","title":"Eye poking"},{"container-title":"HP:0001488","author":[{"family":"drooping of both upper eyelids"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001488","type":"entry-dictionary","title":"Bilateral ptosis"},{"container-title":"HP:0001489","author":[{"family":"vitreous detachment"},{"family":"Separation of the vitreous humor from the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001489","type":"entry-dictionary","title":"Posterior vitreous detachment"},{"container-title":"HP:0001491","author":[{"family":"cfeom"},{"family":"congenital ophthalmoplegia"},{"family":"congenital fibrosis of the extraocular muscles"},{"family":"Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001491","type":"entry-dictionary","title":"Congenital fibrosis of extraocular muscles"},{"container-title":"HP:0001492","author":[{"family":"Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001492","type":"entry-dictionary","title":"Axenfeld anomaly"},{"container-title":"HP:0001493","author":[{"family":"congenital retinal fold"},{"family":"An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001493","type":"entry-dictionary","title":"Falciform retinal fold"},{"container-title":"HP:0001495","author":[{"family":"carpal bone osteolysis"},{"family":"Osteolysis affecting carpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001495","type":"entry-dictionary","title":"Carpal osteolysis"},{"container-title":"HP:0001498","author":[{"family":"small carpals"},{"family":"small carpal bones"},{"family":"small wrist bones"},{"family":"hypoplastic carpal bones"},{"family":"hypoplasia of carpal bones"},{"family":"Underdevelopment of one or more carpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001498","type":"entry-dictionary","title":"Carpal bone hypoplasia"},{"container-title":"HP:0001500","author":[{"family":"wide fingers"},{"family":"broad fingers"},{"family":"Increased width of a non-thumb digit of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001500","type":"entry-dictionary","title":"Broad finger"},{"container-title":"HP:0001501","author":[{"family":"6 long bones of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001501","type":"entry-dictionary","title":"6 metacarpals"},{"container-title":"HP:0001504","author":[{"family":"metacarpals osteolysis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001504","type":"entry-dictionary","title":"Metacarpal osteolysis"},{"container-title":"HP:0001507","author":[{"family":"growth issue"},{"family":"abnormal growth"},{"family":"growth abnormality"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001507","type":"entry-dictionary","title":"Growth abnormality"},{"container-title":"HP:0001508","author":[{"family":"poor weight gain"},{"family":"undergrowth"},{"family":"weight faltering"},{"family":"faltering weight"},{"family":"postnatal failure to thrive"},{"family":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001508","type":"entry-dictionary","title":"Failure to thrive"},{"container-title":"HP:0001510","author":[{"family":"retarded growth"},{"family":"growth failure"},{"family":"growth deficiency"},{"family":"growth retardation"},{"family":"very poor growth"},{"family":"delayed growth"},{"family":"growth delay"},{"family":"A deficiency or slowing down of growth pre- and postnatally."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001510","type":"entry-dictionary","title":"Growth delay"},{"container-title":"HP:0001511","author":[{"family":"in utero growth retardation"},{"family":"prenatal onset growth retardation"},{"family":"intrauterine retardation"},{"family":"prenatal growth retardation"},{"family":"intrauterine growth restriction"},{"family":"prenatal-onset growth retardation"},{"family":"small for gestational age infant"},{"family":"prenatal growth failure"},{"family":"intrauterine growth retardation, iugr"},{"family":"intrauterine growth failure"},{"family":"prenatal growth deficiency"},{"family":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001511","type":"entry-dictionary","title":"Intrauterine growth retardation"},{"container-title":"HP:0001513","author":[{"family":"having too much body fat"},{"family":"obesity"},{"family":"Accumulation of substantial excess body fat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001513","type":"entry-dictionary","title":"Obesity"},{"container-title":"HP:0001518","author":[{"family":"small for gestational age"},{"family":"low birth weight"},{"family":"birth weight less than 10th percentile"},{"family":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001518","type":"entry-dictionary","title":"Small for gestational age"},{"container-title":"HP:0001519","author":[{"family":"marfanoid body habitus"},{"family":"marfanoid habitus"},{"family":"dolichostenomelia"},{"family":"reduced upper-lower segment ratio"},{"family":"A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001519","type":"entry-dictionary","title":"Disproportionate tall stature"},{"container-title":"HP:0001520","author":[{"family":"fetal macrosomia"},{"family":"birthweight > 90th percentile"},{"family":"birth weight > 90th percentile"},{"family":"macrosomia, neonatal"},{"family":"The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001520","type":"entry-dictionary","title":"Large for gestational age"},{"container-title":"HP:0001522","author":[{"family":"lethal in infancy"},{"family":"death in infancy"},{"family":"death in early childhood"},{"family":"infantile death"},{"family":"Death within the first 24 months of life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001522","type":"entry-dictionary","title":"Death in infancy"},{"container-title":"HP:0001525","author":[{"family":"severe weight faltering"},{"family":"severe faltering weight"},{"family":"severe postnatal failure to thrive"},{"family":"marked failure to thrive"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001525","type":"entry-dictionary","title":"Severe failure to thrive"},{"container-title":"HP:0001528","author":[{"family":"asymmetric limb hypertrophy"},{"family":"asymmetric overgrowth"},{"family":"Overgrowth of only one side of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001528","type":"entry-dictionary","title":"Hemihypertrophy"},{"container-title":"HP:0001530","author":[{"family":"mild growth deficiency"},{"family":"postnatal onset of mild growth retardation"},{"family":"A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001530","type":"entry-dictionary","title":"Mild postnatal growth retardation"},{"container-title":"HP:0001531","author":[{"family":"faltering weight in infancy"},{"family":"weight faltering in infancy"},{"family":"failure to thrive in first year of life"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001531","type":"entry-dictionary","title":"Failure to thrive in infancy"},{"container-title":"HP:0001533","author":[{"family":"asthenic habitus"},{"family":"thin build"},{"family":"slender build"},{"family":"Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001533","type":"entry-dictionary","title":"Slender build"},{"container-title":"HP:0001537","author":[{"family":"umbilical hernias"},{"family":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001537","type":"entry-dictionary","title":"Umbilical hernia"},{"container-title":"HP:0001538","author":[{"family":"abdominal protuberance"},{"family":"A thrusting or bulging out of the abdomen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001538","type":"entry-dictionary","title":"Protuberant abdomen"},{"container-title":"HP:0001539","author":[{"family":"omphalocoele"},{"family":"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001539","type":"entry-dictionary","title":"Omphalocele"},{"container-title":"HP:0001540","author":[{"family":"A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001540","type":"entry-dictionary","title":"Diastasis recti"},{"container-title":"HP:0001541","author":[{"family":"accumulation of fluid in the abdomen"},{"family":"Accumulation of fluid in the peritoneal cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001541","type":"entry-dictionary","title":"Ascites"},{"container-title":"HP:0001543","author":[{"family":"A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs to extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001543","type":"entry-dictionary","title":"Gastroschisis"},{"container-title":"HP:0001544","author":[{"family":"prominent belly button"},{"family":"prominent navel"},{"family":"Abnormally prominent umbilicus (belly button)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001544","type":"entry-dictionary","title":"Prominent umbilicus"},{"container-title":"HP:0001545","author":[{"family":"anteriorly displaced anus"},{"family":"anus anteposition"},{"family":"Anterior malposition of the anus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001545","type":"entry-dictionary","title":"Anteriorly placed anus"},{"container-title":"HP:0001547","author":[{"family":"abnormality of the rib cage"},{"family":"A morphological anomaly of the rib cage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001547","type":"entry-dictionary","title":"Abnormality of the rib cage"},{"container-title":"HP:0001548","author":[{"family":"fetal overgrowth"},{"family":"generalized overgrowth"},{"family":"general overgrowth"},{"family":"Excessive postnatal growth which may comprise increased weight, increased length, and\/or increased head circumference."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001548","type":"entry-dictionary","title":"Overgrowth"},{"container-title":"HP:0001549","author":[{"family":"Abnormality of the ileum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001549","type":"entry-dictionary","title":"Abnormality of the ileum"},{"container-title":"HP:0001551","author":[{"family":"abnormal navel"},{"family":"abnormal umbilicus"},{"family":"abnormal belly button"},{"family":"Abnormality of the umbilicus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001551","type":"entry-dictionary","title":"Abnormality of the umbilicus"},{"container-title":"HP:0001552","author":[{"family":"barrel-shaped chest"},{"family":"barrel chest"},{"family":"A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001552","type":"entry-dictionary","title":"Barrel-shaped chest"},{"container-title":"HP:0001555","author":[{"family":"asymmetric chest"},{"family":"Lack of symmetry between the left and right halves of the thorax."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001555","type":"entry-dictionary","title":"Asymmetry of the thorax"},{"container-title":"HP:0001557","author":[{"family":"abnormal intrauterine movements"},{"family":"An abnormality of fetal movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001557","type":"entry-dictionary","title":"Prenatal movement abnormality"},{"container-title":"HP:0001558","author":[{"family":"decreased fetal activity"},{"family":"decreased movement in utero"},{"family":"fetal hypokinesia"},{"family":"decreased fetal movements"},{"family":"reduced fetal movements"},{"family":"An abnormal reduction in quantity or strength of fetal movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001558","type":"entry-dictionary","title":"Decreased fetal movement"},{"container-title":"HP:0001560","author":[{"family":"abnormal amniotic fluid"},{"family":"Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001560","type":"entry-dictionary","title":"Abnormality of the amniotic fluid"},{"container-title":"HP:0001561","author":[{"family":"hydramnios"},{"family":"The presence of excess amniotic fluid in the uterus during pregnancy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001561","type":"entry-dictionary","title":"Polyhydramnios"},{"container-title":"HP:0001562","author":[{"family":"maternal oligohydramnios"},{"family":"Diminished amniotic fluid volume in pregnancy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001562","type":"entry-dictionary","title":"Oligohydramnios"},{"container-title":"HP:0001563","author":[{"family":"Abnormally increased production of urine by the fetus resulting in polyhydramnios."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001563","type":"entry-dictionary","title":"Fetal polyuria"},{"container-title":"HP:0001566","author":[{"family":"diastema between upper front teeth"},{"family":"diastasis of the central incisors"},{"family":"wide gap between upper central incisors"},{"family":"wide upper central incisors"},{"family":"central incisor gap"},{"family":"widely spaced upper incisors"},{"family":"separated superior central incisors"},{"family":"diastema between upper incisors"},{"family":"diastema between maxillary central incisors"},{"family":"gap between upper front teeth"},{"family":"Increased distance between the maxillary central permanent incisor tooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001566","type":"entry-dictionary","title":"Widely-spaced maxillary central incisors"},{"container-title":"HP:0001571","author":[{"family":"multiple impacted teeth"},{"family":"multiple buried teeth"},{"family":"multiple retained teeth"},{"family":"The presence of multiple impacted teeth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001571","type":"entry-dictionary","title":"Multiple impacted teeth"},{"container-title":"HP:0001572","author":[{"family":"increased width of tooth"},{"family":"tooth mass excess"},{"family":"large teeth"},{"family":"hyperplasia of tooth"},{"family":"large tooth"},{"family":"hypertrophy of tooth"},{"family":"increased size of tooth"},{"family":"Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001572","type":"entry-dictionary","title":"Macrodontia"},{"container-title":"HP:0001574","author":[{"family":"An abnormality of the integument, which consists of the skin and the superficial fascia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001574","type":"entry-dictionary","title":"Abnormality of the integument"},{"container-title":"HP:0001575","author":[{"family":"mood alterations"},{"family":"moody"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001575","type":"entry-dictionary","title":"Mood changes"},{"container-title":"HP:0001579","author":[{"family":"acth-independent hypercortisolemia"},{"family":"Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001579","type":"entry-dictionary","title":"Primary hypercorticolism"},{"container-title":"HP:0001580","author":[{"family":"Pigmented micronodular adrenocortical disease"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001580","type":"entry-dictionary","title":"Pigmented micronodular adrenocortical disease"},{"container-title":"HP:0001581","author":[{"family":"recurrent skin infections"},{"family":"skin infections, recurrent"},{"family":"cutaneous infections"},{"family":"Infections of the skin that happen multiple times."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001581","type":"entry-dictionary","title":"Recurrent skin infections"},{"container-title":"HP:0001582","author":[{"family":"sagging, redundant skin"},{"family":"loose redundant skin"},{"family":"redundant skin folds"},{"family":"Loose and sagging skin often associated with loss of skin elasticity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001582","type":"entry-dictionary","title":"Redundant skin"},{"container-title":"HP:0001583","author":[{"family":"rotatory nystagmus"},{"family":"A form of nystagmus in which the eyeball makes rotary motions around the axis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001583","type":"entry-dictionary","title":"Rotary nystagmus"},{"container-title":"HP:0001586","author":[{"family":"The presence of a fistula connecting the urinary bladder to the vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001586","type":"entry-dictionary","title":"Vesicovaginal fistula"},{"container-title":"HP:0001591","author":[{"family":"bell-shaped chest"},{"family":"narrow, bell-shaped thorax"},{"family":"constricted, bell-shaped thorax"},{"family":"The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, follwed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001591","type":"entry-dictionary","title":"Bell-shaped thorax"},{"container-title":"HP:0001592","author":[{"family":"failure of development of a tooth"},{"family":"absence of a tooth"},{"family":"missing a tooth"},{"family":"agenesis of a tooth"},{"family":"Agenesis specifically affecting one of the classes incisor, premolar, or molar."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001592","type":"entry-dictionary","title":"Selective tooth agenesis"},{"container-title":"HP:0001593","author":[{"family":"decreased size of upper lateral incisor"},{"family":"decreased size of maxillary lateral incisor"},{"family":"small maxillary lateral incisor"},{"family":"small upper lateral incisor"},{"family":"decreased width of upper lateral incisor"},{"family":"hypotrophic upper lateral incisor"},{"family":"hypotrophic maxillary lateral incisor"},{"family":"Decreased size of the maxillary permanent incisor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001593","type":"entry-dictionary","title":"Maxillary lateral incisor microdontia"},{"container-title":"HP:0001595","author":[{"family":"hair abnormality"},{"family":"abnormality of the hair shaft"},{"family":"An abnormality of the hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001595","type":"entry-dictionary","title":"Abnormality of the hair"},{"container-title":"HP:0001596","author":[{"family":"hair loss"},{"family":"Loss of hair from the head or body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001596","type":"entry-dictionary","title":"Alopecia"},{"container-title":"HP:0001597","author":[{"family":"nail disease"},{"family":"abnormality of the nail"},{"family":"Abnormality of the nail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001597","type":"entry-dictionary","title":"Abnormality of the nail"},{"container-title":"HP:0001598","author":[{"family":"spoon-shaped nails"},{"family":"koilonychia"},{"family":"The natural longitudinal (posterodistal) convex arch is not present or is inverted."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001598","type":"entry-dictionary","title":"Concave nail"},{"container-title":"HP:0001600","author":[{"family":"laryngeal anomalies"},{"family":"laryngeal abnormalities"},{"family":"An abnormality of the larynx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001600","type":"entry-dictionary","title":"Abnormality of the larynx"},{"container-title":"HP:0001601","author":[{"family":"Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001601","type":"entry-dictionary","title":"Laryngomalacia"},{"container-title":"HP:0001602","author":[{"family":"Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001602","type":"entry-dictionary","title":"Laryngeal stenosis"},{"container-title":"HP:0001604","author":[{"family":"hoarse voice due to vocal cord paresis"},{"family":"vocal cord paresis in severe cases"},{"family":"weakness of the vocal cords"},{"family":"Decreased strength of the vocal folds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001604","type":"entry-dictionary","title":"Vocal cord paresis"},{"container-title":"HP:0001605","author":[{"family":"inability to move vocal cords"},{"family":"laryngeal paralysis"},{"family":"A loss of the ability to move the vocal folds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001605","type":"entry-dictionary","title":"Vocal cord paralysis"},{"container-title":"HP:0001607","author":[{"family":"Subglottic stenosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001607","type":"entry-dictionary","title":"Subglottic stenosis"},{"container-title":"HP:0001608","author":[{"family":"abnormality of the voice"},{"family":"voice abnormality"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001608","type":"entry-dictionary","title":"Abnormality of the voice"},{"container-title":"HP:0001609","author":[{"family":"hoarse voice"},{"family":"husky voice"},{"family":"hoarseness"},{"family":"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001609","type":"entry-dictionary","title":"Hoarse voice"},{"container-title":"HP:0001611","author":[{"family":"hypernasal speech"},{"family":"hypernasal voice"},{"family":"A type of speech characterized by the presence of an abnormally increased nasal airflow during speech."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001611","type":"entry-dictionary","title":"Nasal speech"},{"container-title":"HP:0001612","author":[{"family":"Weak cry"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001612","type":"entry-dictionary","title":"Weak cry"},{"container-title":"HP:0001615","author":[{"family":"hoarse cry"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001615","type":"entry-dictionary","title":"Hoarse cry"},{"container-title":"HP:0001618","author":[{"family":"inability to produce voice sounds"},{"family":"An impairment in the ability to produce voice sounds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001618","type":"entry-dictionary","title":"Dysphonia"},{"container-title":"HP:0001620","author":[{"family":"high pitched voice"},{"family":"high-pitched voice"},{"family":"An abnormal increase in the pitch (frequency) of the voice."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001620","type":"entry-dictionary","title":"High pitched voice"},{"container-title":"HP:0001621","author":[{"family":"weak voice"},{"family":"hypophonia"},{"family":"soft voice"},{"family":"Reduced intensity (volume) of speech."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001621","type":"entry-dictionary","title":"Weak voice"},{"container-title":"HP:0001622","author":[{"family":"premature delivery of affected infants"},{"family":"premature birth"},{"family":"shortened gestation time"},{"family":"preterm delivery"},{"family":"The birth of a baby of less than 37 weeks of gestational age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001622","type":"entry-dictionary","title":"Premature birth"},{"container-title":"HP:0001623","author":[{"family":"breech presentation at birth"},{"family":"A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001623","type":"entry-dictionary","title":"Breech presentation"},{"container-title":"HP:0001626","author":[{"family":"cardiovascular disease"},{"family":"cardiovascular abnormality"},{"family":"abnormality of the cardiovascular system"},{"family":"Any abnormality of the cardiovascular system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001626","type":"entry-dictionary","title":"Abnormality of the cardiovascular system"},{"container-title":"HP:0001627","author":[{"family":"cardiac abnormality"},{"family":"abnormality of the heart"},{"family":"abnormally shaped heart"},{"family":"cardiac anomalies"},{"family":"abnormality of cardiac morphology"},{"family":"congenital heart defects"},{"family":"Any structural anomaly of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001627","type":"entry-dictionary","title":"Abnormal heart morphology"},{"container-title":"HP:0001629","author":[{"family":"ventricular septal defects"},{"family":"ventriculoseptal defect"},{"family":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001629","type":"entry-dictionary","title":"Ventricular septal defect"},{"container-title":"HP:0001631","author":[{"family":"asd"},{"family":"atria septal defect"},{"family":"atrial septum defect"},{"family":"defect in the atrial septum"},{"family":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001631","type":"entry-dictionary","title":"Atrial septal defect"},{"container-title":"HP:0001633","author":[{"family":"abnormality of the mitral valve"},{"family":"Any structural anomaly of the mitral valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001633","type":"entry-dictionary","title":"Abnormal mitral valve morphology"},{"container-title":"HP:0001634","author":[{"family":"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001634","type":"entry-dictionary","title":"Mitral valve prolapse"},{"container-title":"HP:0001635","author":[{"family":"chf"},{"family":"cardiac insufficiency"},{"family":"chronic heart failure"},{"family":"cardiac failures"},{"family":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001635","type":"entry-dictionary","title":"Congestive heart failure"},{"container-title":"HP:0001636","author":[{"family":"tetrology of fallot"},{"family":"A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001636","type":"entry-dictionary","title":"Tetralogy of Fallot"},{"container-title":"HP:0001637","author":[{"family":"abnormality of the myocardium"},{"family":"A structural anomaly of the muscle layer of the heart wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001637","type":"entry-dictionary","title":"Abnormal myocardium morphology"},{"container-title":"HP:0001638","author":[{"family":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001638","type":"entry-dictionary","title":"Cardiomyopathy"},{"container-title":"HP:0001639","author":[{"family":"cardiomyopathy, hypertrophic"},{"family":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001639","type":"entry-dictionary","title":"Hypertrophic cardiomyopathy"},{"container-title":"HP:0001640","author":[{"family":"increased heart size"},{"family":"enlarged heart"},{"family":"Increased size of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001640","type":"entry-dictionary","title":"Cardiomegaly"},{"container-title":"HP:0001641","author":[{"family":"anomaly of the pulmonary valve"},{"family":"abnormality of the pulmonary valve"},{"family":"Any structural abnormality of the pulmonary valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001641","type":"entry-dictionary","title":"Abnormal pulmonary valve morphology"},{"container-title":"HP:0001642","author":[{"family":"pulmonic valve stenosis"},{"family":"pulmonary stenosis"},{"family":"narrowing of pulmonic valve"},{"family":"pulmonary valve stenosis"},{"family":"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001642","type":"entry-dictionary","title":"Pulmonic stenosis"},{"container-title":"HP:0001643","author":[{"family":"persistent ductus arteriosus"},{"family":"persistent arterial duct"},{"family":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001643","type":"entry-dictionary","title":"Patent ductus arteriosus"},{"container-title":"HP:0001644","author":[{"family":"congestive cardiomyopathy"},{"family":"cardiomyopathy, dilated"},{"family":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001644","type":"entry-dictionary","title":"Dilated cardiomyopathy"},{"container-title":"HP:0001645","author":[{"family":"premature sudden cardiac death"},{"family":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001645","type":"entry-dictionary","title":"Sudden cardiac death"},{"container-title":"HP:0001646","author":[{"family":"abnormality of the aortic valve"},{"family":"Any abnormality of the aortic valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001646","type":"entry-dictionary","title":"Abnormal aortic valve morphology"},{"container-title":"HP:0001647","author":[{"family":"The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001647","type":"entry-dictionary","title":"Bicuspid aortic valve"},{"container-title":"HP:0001648","author":[{"family":"Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001648","type":"entry-dictionary","title":"Cor pulmonale"},{"container-title":"HP:0001649","author":[{"family":"fast heart rate"},{"family":"increased heart rate"},{"family":"racing heart"},{"family":"heart racing"},{"family":"elevated heart rate"},{"family":"rapid heart beat"},{"family":"A rapid heartrate that exceeds the range of the normal resting heartrate for age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001649","type":"entry-dictionary","title":"Tachycardia"},{"container-title":"HP:0001650","author":[{"family":"valvular aortic stenosis"},{"family":"narrowing of aortic valve"},{"family":"The presence of a stenosis (narrowing) of the aortic valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001650","type":"entry-dictionary","title":"Aortic valve stenosis"},{"container-title":"HP:0001651","author":[{"family":"thoracic situs inversus"},{"family":"The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001651","type":"entry-dictionary","title":"Dextrocardia"},{"container-title":"HP:0001653","author":[{"family":"mitral insufficiency"},{"family":"mitral incompetence"},{"family":"mitral regurgitation, mild"},{"family":"mitral valve insufficiency"},{"family":"mitral valve regurgitation"},{"family":"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001653","type":"entry-dictionary","title":"Mitral regurgitation"},{"container-title":"HP:0001654","author":[{"family":"valvular abnormality"},{"family":"valvular heart disease"},{"family":"abnormality of the heart valves"},{"family":"Any structural abnormality of a cardiac valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001654","type":"entry-dictionary","title":"Abnormal heart valve morphology"},{"container-title":"HP:0001655","author":[{"family":"Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001655","type":"entry-dictionary","title":"Patent foramen ovale"},{"container-title":"HP:0001657","author":[{"family":"prolong qt interval on ekg"},{"family":"long qt syndrome"},{"family":"long q-t syndrome"},{"family":"Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001657","type":"entry-dictionary","title":"Prolonged QT interval"},{"container-title":"HP:0001658","author":[{"family":"heart attack"},{"family":"mi"},{"family":"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001658","type":"entry-dictionary","title":"Myocardial infarction"},{"container-title":"HP:0001659","author":[{"family":"aortic insufficiency"},{"family":"aortic valve regurgitation"},{"family":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001659","type":"entry-dictionary","title":"Aortic regurgitation"},{"container-title":"HP:0001660","author":[{"family":"common arterial trunk"},{"family":"persistant truncus arteriosus"},{"family":"A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001660","type":"entry-dictionary","title":"Truncus arteriosus"},{"container-title":"HP:0001662","author":[{"family":"brachycardia"},{"family":"slow heartbeats"},{"family":"A slower than normal heart rate (in adults, slower than 60 beats per minute)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001662","type":"entry-dictionary","title":"Bradycardia"},{"container-title":"HP:0001663","author":[{"family":"Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001663","type":"entry-dictionary","title":"Ventricular fibrillation"},{"container-title":"HP:0001664","author":[{"family":"torsades de pointes"},{"family":"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001664","type":"entry-dictionary","title":"Torsade de pointes"},{"container-title":"HP:0001667","author":[{"family":"heart right ventricle hypertrophy"},{"family":"In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001667","type":"entry-dictionary","title":"Right ventricular hypertrophy"},{"container-title":"HP:0001669","author":[{"family":"transposition of great vessels"},{"family":"A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001669","type":"entry-dictionary","title":"Transposition of the great arteries"},{"container-title":"HP:0001670","author":[{"family":"Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001670","type":"entry-dictionary","title":"Asymmetric septal hypertrophy"},{"container-title":"HP:0001671","author":[{"family":"abnormality of the cardiac septa"},{"family":"septal defects"},{"family":"heart septal defect"},{"family":"An anomaly of the intra-atrial or intraventricular septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001671","type":"entry-dictionary","title":"Abnormal cardiac septum morphology"},{"container-title":"HP:0001674","author":[{"family":"complete atrioventricular septal defect"},{"family":"common atrioventricular canal"},{"family":"complete common av canal"},{"family":"A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001674","type":"entry-dictionary","title":"Complete atrioventricular canal defect"},{"container-title":"HP:0001677","author":[{"family":"coronary disease"},{"family":"plaque build-up in arteries supplying blood to heart"},{"family":"coronary atherosclerosis"},{"family":"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001677","type":"entry-dictionary","title":"Coronary artery atherosclerosis"},{"container-title":"HP:0001678","author":[{"family":"atrioventricular nodal disease"},{"family":"Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001678","type":"entry-dictionary","title":"Atrioventricular block"},{"container-title":"HP:0001679","author":[{"family":"abnormal aorta morphology"},{"family":"abnormality of the aorta"},{"family":"An abnormality of the aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001679","type":"entry-dictionary","title":"Abnormal aortic morphology"},{"container-title":"HP:0001680","author":[{"family":"coaractation of the aorta"},{"family":"coarctation of the aorta"},{"family":"aortic coarctation"},{"family":"Coarctation of the aorta is a narrowing or constriction of a segment of the aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001680","type":"entry-dictionary","title":"Coarctation of aorta"},{"container-title":"HP:0001681","author":[{"family":"Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001681","type":"entry-dictionary","title":"Angina pectoris"},{"container-title":"HP:0001682","author":[{"family":"subaortic stenosis"},{"family":"A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001682","type":"entry-dictionary","title":"Subvalvular aortic stenosis"},{"container-title":"HP:0001683","author":[{"family":"Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001683","type":"entry-dictionary","title":"Ectopia cordis"},{"container-title":"HP:0001684","author":[{"family":"patent ostium secundum"},{"family":"ostium secundum atrial septal defect"},{"family":"atrial septal defect, ostium secundum type"},{"family":"A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001684","type":"entry-dictionary","title":"Secundum atrial septal defect"},{"container-title":"HP:0001685","author":[{"family":"Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001685","type":"entry-dictionary","title":"Myocardial fibrosis"},{"container-title":"HP:0001686","author":[{"family":"Loss of voice"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001686","type":"entry-dictionary","title":"Loss of voice"},{"container-title":"HP:0001688","author":[{"family":"Bradycardia related to a mean resting sinus rate of less than 50 beats per minute."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001688","type":"entry-dictionary","title":"Sinus bradycardia"},{"container-title":"HP:0001691","author":[{"family":"muscular subaortic stenosis"},{"family":"A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow though the left-ventricular outflow tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001691","type":"entry-dictionary","title":"Muscular subvalvular aortic stenosis"},{"container-title":"HP:0001692","author":[{"family":"primary atrial arrhythmia"},{"family":"A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001692","type":"entry-dictionary","title":"Atrial arrhythmia"},{"container-title":"HP:0001693","author":[{"family":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001693","type":"entry-dictionary","title":"Cardiac shunt"},{"container-title":"HP:0001694","author":[{"family":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001694","type":"entry-dictionary","title":"Right-to-left shunt"},{"container-title":"HP:0001695","author":[{"family":"An abrupt loss of heart function."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001695","type":"entry-dictionary","title":"Cardiac arrest"},{"container-title":"HP:0001696","author":[{"family":"situs oppositus"},{"family":"situs transversus"},{"family":"situs inversus"},{"family":"A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001696","type":"entry-dictionary","title":"Situs inversus totalis"},{"container-title":"HP:0100001","author":[{"family":"Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100001","type":"entry-dictionary","title":"Malignant mesothelioma"},{"container-title":"HP:0001697","author":[{"family":"abnormality of the pericardium"},{"family":"An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001697","type":"entry-dictionary","title":"Abnormal pericardium morphology"},{"container-title":"HP:0100000","author":[{"family":"early onset of sexual maturation"},{"family":"An early onset of puberty, in this case early does not refer to precocious."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100000","type":"entry-dictionary","title":"Early onset of sexual maturation"},{"container-title":"HP:0001698","author":[{"family":"pericardial effusions"},{"family":"Accumulation of fluid within the pericardium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001698","type":"entry-dictionary","title":"Pericardial effusion"},{"container-title":"HP:0100003","author":[{"family":"A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100003","type":"entry-dictionary","title":"Peritoneal mesothelioma"},{"container-title":"HP:0001699","author":[{"family":"Rapid and unexpected death."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001699","type":"entry-dictionary","title":"Sudden death"},{"container-title":"HP:0100002","author":[{"family":"A Malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100002","type":"entry-dictionary","title":"Pleural mesothelioma"},{"container-title":"HP:0001700","author":[{"family":"Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001700","type":"entry-dictionary","title":"Myocardial necrosis"},{"container-title":"HP:0100005","author":[{"family":"A Malignant mesothelioma of the testis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100005","type":"entry-dictionary","title":"Testicular mesothelioma"},{"container-title":"HP:0001701","author":[{"family":"Inflammation of the sac-like covering around the heart (pericardium)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001701","type":"entry-dictionary","title":"Pericarditis"},{"container-title":"HP:0100004","author":[{"family":"A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100004","type":"entry-dictionary","title":"Pericardial mesothelioma"},{"container-title":"HP:0001702","author":[{"family":"abnormality of the tricuspid valve"},{"family":"Any structural anomaly of the tricuspid valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001702","type":"entry-dictionary","title":"Abnormal tricuspid valve morphology"},{"container-title":"HP:0100007","author":[{"family":"tumor of the peripheral nervous system"},{"family":"A benign or malignant neoplasm (tumour) of the peripheral nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100007","type":"entry-dictionary","title":"Neoplasm of the peripheral nervous system"},{"container-title":"HP:0100006","author":[{"family":"neoplasia of the central nervous system"},{"family":"tumors of the central nervous system"},{"family":"A neoplasm of the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100006","type":"entry-dictionary","title":"Neoplasm of the central nervous system"},{"container-title":"HP:0001704","author":[{"family":"One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001704","type":"entry-dictionary","title":"Tricuspid valve prolapse"},{"container-title":"HP:0100009","author":[{"family":"Intracranial meningioma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100009","type":"entry-dictionary","title":"Intracranial meningioma"},{"container-title":"HP:0001705","author":[{"family":"Right ventricular outlet obstruction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001705","type":"entry-dictionary","title":"Right ventricular outlet obstruction"},{"container-title":"HP:0100008","author":[{"family":"neurinoma"},{"family":"neurolemmoma"},{"family":"neurilemmoma"},{"family":"schwann cell tumor"},{"family":"schwann cell tumour"},{"family":"schwannomas"},{"family":"A benign nerve sheath tumor composed of Schwann cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100008","type":"entry-dictionary","title":"Schwannoma"},{"container-title":"HP:0001706","author":[{"family":"Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001706","type":"entry-dictionary","title":"Endocardial fibroelastosis"},{"container-title":"HP:0100011","author":[{"family":"Scleral schwannoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100011","type":"entry-dictionary","title":"Scleral schwannoma"},{"container-title":"HP:0001707","author":[{"family":"right ventricular abnormality"},{"family":"abnormality of the right ventricle"},{"family":"An abnormality of the right ventricle of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001707","type":"entry-dictionary","title":"Abnormal right ventricle morphology"},{"container-title":"HP:0100010","author":[{"family":"Spinal meningioma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100010","type":"entry-dictionary","title":"Spinal meningioma"},{"container-title":"HP:0001708","author":[{"family":"impaired right ventricular function"},{"family":"right-sided heart failure"},{"family":"right ventricular impairment"},{"family":"Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading top pitting peripheral edema, ascites, and hepatomegaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001708","type":"entry-dictionary","title":"Right ventricular failure"},{"container-title":"HP:0100013","author":[{"family":"breast tumor"},{"family":"neoplasia of the breast"},{"family":"tumours of the breast"},{"family":"A tumor (abnormal growth of tissue) of the breast."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100013","type":"entry-dictionary","title":"Neoplasm of the breast"},{"container-title":"HP:0001709","author":[{"family":"third-degree heart block"},{"family":"complete heart block"},{"family":"Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001709","type":"entry-dictionary","title":"Third degree atrioventricular block"},{"container-title":"HP:0100012","author":[{"family":"eye tumor"},{"family":"neoplasia of the eye"},{"family":"A tumor (abnormal growth of tissue) of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100012","type":"entry-dictionary","title":"Neoplasm of the eye"},{"container-title":"HP:0001710","author":[{"family":"conotruncal heart defects"},{"family":"A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001710","type":"entry-dictionary","title":"Conotruncal defect"},{"container-title":"HP:0100015","author":[{"family":"vulcan ear"},{"family":"spock ear"},{"family":"third crus"},{"family":"additional crus"},{"family":"The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100015","type":"entry-dictionary","title":"Stahl ear"},{"container-title":"HP:0001711","author":[{"family":"abnormality of the left ventricle"},{"family":"left ventricular abnormality"},{"family":"abnormal heart left ventricle morphology"},{"family":"Any structural abnormality of the left ventricle of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001711","type":"entry-dictionary","title":"Abnormal left ventricle morphology"},{"container-title":"HP:0100014","author":[{"family":"macular pucker"},{"family":"epiretinal membranes"},{"family":"premacular fibrosis"},{"family":"An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100014","type":"entry-dictionary","title":"Epiretinal membrane"},{"container-title":"HP:0001712","author":[{"family":"left ventricular wall hypertrophy"},{"family":"heart left ventricle hypertrophy"},{"family":"Enlargement or increased size of the heart left ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001712","type":"entry-dictionary","title":"Left ventricular hypertrophy"},{"container-title":"HP:0100017","author":[{"family":"A cataract that affects the capsule of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100017","type":"entry-dictionary","title":"Capsular cataract"},{"container-title":"HP:0001713","author":[{"family":"abnormality of cardiac ventricle"},{"family":"An abnormality of a cardiac ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001713","type":"entry-dictionary","title":"Abnormal cardiac ventricle morphology"},{"container-title":"HP:0100016","author":[{"family":"abnormality of the mesentery"},{"family":"Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100016","type":"entry-dictionary","title":"Abnormality of mesentery morphology"},{"container-title":"HP:0001714","author":[{"family":"Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001714","type":"entry-dictionary","title":"Ventricular hypertrophy"},{"container-title":"HP:0100019","author":[{"family":"A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100019","type":"entry-dictionary","title":"Cortical cataract"},{"container-title":"HP:0100018","author":[{"family":"yellowish cloudy center of lens"},{"family":"A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100018","type":"entry-dictionary","title":"Nuclear cataract"},{"container-title":"HP:0001716","author":[{"family":"A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001716","type":"entry-dictionary","title":"Wolff-Parkinson-White syndrome"},{"container-title":"HP:0100021","author":[{"family":"cerebral paralysis"},{"family":"cp"},{"family":"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100021","type":"entry-dictionary","title":"Cerebral palsy"},{"container-title":"HP:0001717","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001717","type":"entry-dictionary","title":"Coronary artery calcification"},{"container-title":"HP:0100020","author":[{"family":"A cataract which is found in the back outer layer of the lens. This type often develops more rapidly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100020","type":"entry-dictionary","title":"Posterior capsular cataract"},{"container-title":"HP:0001718","author":[{"family":"mitral valve stenosis"},{"family":"Ab abnormal narrowing of the orifice of the mitral valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001718","type":"entry-dictionary","title":"Mitral stenosis"},{"container-title":"HP:0100023","author":[{"family":"A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100023","type":"entry-dictionary","title":"Recurrent hand flapping"},{"container-title":"HP:0001719","author":[{"family":"dorv"},{"family":"double-outlet right ventricle"},{"family":"Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001719","type":"entry-dictionary","title":"Double outlet right ventricle"},{"container-title":"HP:0100022","author":[{"family":"movement disorder"},{"family":"unusual movement"},{"family":"abnormality of movement"},{"family":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100022","type":"entry-dictionary","title":"Abnormality of movement"},{"container-title":"HP:0100025","author":[{"family":"overfriendliness"},{"family":"A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100025","type":"entry-dictionary","title":"Overfriendliness"},{"container-title":"HP:0100024","author":[{"family":"conspicious happy aspect"},{"family":"An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100024","type":"entry-dictionary","title":"Conspicuously happy disposition"},{"container-title":"HP:0001722","author":[{"family":"A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001722","type":"entry-dictionary","title":"High-output congestive heart failure"},{"container-title":"HP:0100027","author":[{"family":"recurring pancreas inflammation"},{"family":"recurring pancreatitis"},{"family":"A recurrent form of pancreatitis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100027","type":"entry-dictionary","title":"Recurrent pancreatitis"},{"container-title":"HP:0001723","author":[{"family":"Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001723","type":"entry-dictionary","title":"Restrictive cardiomyopathy"},{"container-title":"HP:0100026","author":[{"family":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100026","type":"entry-dictionary","title":"Arteriovenous malformation"},{"container-title":"HP:0100029","author":[{"family":"An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100029","type":"entry-dictionary","title":"Lingual thyroid"},{"container-title":"HP:0100028","author":[{"family":"aberrant thyroid"},{"family":"abnormal thryoid location"},{"family":"Mislocalised thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100028","type":"entry-dictionary","title":"Ectopic thyroid"},{"container-title":"HP:0100031","author":[{"family":"neoplasia of the thyroid gland"},{"family":"A tumor (abnormal growth of tissue) of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100031","type":"entry-dictionary","title":"Neoplasm of the thyroid gland"},{"container-title":"HP:0001727","author":[{"family":"A cerebrovascular accident (stroke) that occurs because of thromboembolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001727","type":"entry-dictionary","title":"Thromboembolic stroke"},{"container-title":"HP:0100030","author":[{"family":"Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100030","type":"entry-dictionary","title":"Accessory ectopic thyroid tissue"},{"container-title":"HP:0100033","author":[{"family":"tic disorder"},{"family":"tics"},{"family":"Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100033","type":"entry-dictionary","title":"Tics"},{"container-title":"HP:0001730","author":[{"family":"progressive hearing loss"},{"family":"A progressive form of hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001730","type":"entry-dictionary","title":"Progressive hearing impairment"},{"container-title":"HP:0100035","author":[{"family":"verbal tics"},{"family":"vocal tics"},{"family":"Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100035","type":"entry-dictionary","title":"Phonic tics"},{"container-title":"HP:0100034","author":[{"family":"Movement-based tics affecting discrete muscle groups."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100034","type":"entry-dictionary","title":"Motor tics"},{"container-title":"HP:0001732","author":[{"family":"abnormality of the pancreas"},{"family":"pancreatic disease"},{"family":"An abnormality of the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001732","type":"entry-dictionary","title":"Abnormality of the pancreas"},{"container-title":"HP:0100037","author":[{"family":"abnormality of the scalp hair"},{"family":"An abnormality of the hair of head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100037","type":"entry-dictionary","title":"Abnormality of the scalp hair"},{"container-title":"HP:0001733","author":[{"family":"pancreatic inflammation"},{"family":"The presence of inflammation in the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001733","type":"entry-dictionary","title":"Pancreatitis"},{"container-title":"HP:0100036","author":[{"family":"looser zones"},{"family":"A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100036","type":"entry-dictionary","title":"Pseudo-fractures"},{"container-title":"HP:0001734","author":[{"family":"A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001734","type":"entry-dictionary","title":"Annular pancreas"},{"container-title":"HP:0100039","author":[{"family":"An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100039","type":"entry-dictionary","title":"Thickened cortex of bones"},{"container-title":"HP:0001735","author":[{"family":"pancreatitis, acute"},{"family":"acute pancreatic inflammation"},{"family":"A acute form of pancreatitis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001735","type":"entry-dictionary","title":"Acute pancreatitis"},{"container-title":"HP:0100038","author":[{"family":"slow-growing scalp hair"},{"family":"Scalp hair whose growth is slower than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100038","type":"entry-dictionary","title":"Slow-growing scalp hair"},{"container-title":"HP:0100041","author":[{"family":"broad 3rd toe"},{"family":"wide 3rd toe"},{"family":"A broad appearance of the third toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100041","type":"entry-dictionary","title":"Broad 3rd toe"},{"container-title":"HP:0001737","author":[{"family":"multiple pancreatic cysts"},{"family":"A cyst of the pancreas that possess a lining of mucous epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001737","type":"entry-dictionary","title":"Pancreatic cysts"},{"container-title":"HP:0100040","author":[{"family":"wide 2nd toe"},{"family":"A broad appearance of the second toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100040","type":"entry-dictionary","title":"Broad 2nd toe"},{"container-title":"HP:0001738","author":[{"family":"pancreatic insufficiency"},{"family":"Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001738","type":"entry-dictionary","title":"Exocrine pancreatic insufficiency"},{"container-title":"HP:0100043","author":[{"family":"broad pinky toe"},{"family":"broad little toe"},{"family":"broad pinkie toe"},{"family":"broad 5th toe"},{"family":"A broad appearance of the fifth toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100043","type":"entry-dictionary","title":"Broad 5th toe"},{"container-title":"HP:0001739","author":[{"family":"Abnormality of the nasopharynx"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001739","type":"entry-dictionary","title":"Abnormality of the nasopharynx"},{"container-title":"HP:0100042","author":[{"family":"wide 4th toe"},{"family":"broad 4th toe"},{"family":"A broad appearance of the fourth toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100042","type":"entry-dictionary","title":"Broad 4th toe"},{"container-title":"HP:0100045","author":[{"family":"bracket shaped end part of 2nd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100045","type":"entry-dictionary","title":"Bracket epiphyses of the 2nd toe"},{"container-title":"HP:0001741","author":[{"family":"The male foreskin cannot be fully retracted from the head of the penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001741","type":"entry-dictionary","title":"Phimosis"},{"container-title":"HP:0100044","author":[{"family":"absent end part of the 2nd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100044","type":"entry-dictionary","title":"Absent epiphyses of the 2nd toe"},{"container-title":"HP:0001742","author":[{"family":"nasal obstruction"},{"family":"stuffy nose"},{"family":"nasal blockage"},{"family":"obstruction of nose"},{"family":"nasal congestion"},{"family":"blockage of nose"},{"family":"congestion of nose"},{"family":"Reduced ability to pass air through the nasal cavity often leading to mouth breathing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001742","type":"entry-dictionary","title":"Nasal obstruction"},{"container-title":"HP:0100047","author":[{"family":"enlarged end part of the 2nd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100047","type":"entry-dictionary","title":"Enlarged epiphyses of the 2nd toe"},{"container-title":"HP:0001743","author":[{"family":"abnormality of the spleen"},{"family":"An abnormality of the spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001743","type":"entry-dictionary","title":"Abnormality of the spleen"},{"container-title":"HP:0100046","author":[{"family":"cone-shaped end part of the 2nd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100046","type":"entry-dictionary","title":"Cone-shaped epiphyses of the 2nd toe"},{"container-title":"HP:0001744","author":[{"family":"increased spleen size"},{"family":"Abnormal increased size of the spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001744","type":"entry-dictionary","title":"Splenomegaly"},{"container-title":"HP:0100049","author":[{"family":"irregular end part of the 2nd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100049","type":"entry-dictionary","title":"Irregular epiphyses of the 2nd toe"},{"container-title":"HP:0100048","author":[{"family":"fragmentation of the end part of the 2nd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100048","type":"entry-dictionary","title":"Fragmentation of the epiphyses of the 2nd toe"},{"container-title":"HP:0001746","author":[{"family":"absent spleen"},{"family":"Absence (aplasia) of the spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001746","type":"entry-dictionary","title":"Asplenia"},{"container-title":"HP:0100051","author":[{"family":"Pseudoepiphyses of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100051","type":"entry-dictionary","title":"Pseudoepiphyses of the 2nd toe"},{"container-title":"HP:0001747","author":[{"family":"An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001747","type":"entry-dictionary","title":"Accessory spleen"},{"container-title":"HP:0100050","author":[{"family":"increased bone density of end part of the 2nd toe"},{"family":"Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100050","type":"entry-dictionary","title":"Ivory epiphyses of the 2nd toe"},{"container-title":"HP:0001748","author":[{"family":"multiple accessory spleens"},{"family":"Polysplenia is a congenital disease manifested by multiple small accessory spleens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001748","type":"entry-dictionary","title":"Polysplenia"},{"container-title":"HP:0100053","author":[{"family":"speckled calcifications in the end part of the 2nd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100053","type":"entry-dictionary","title":"Stippling of the epiphyses of the 2nd toe"},{"container-title":"HP:0100052","author":[{"family":"small end part of the 2nd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100052","type":"entry-dictionary","title":"Small epiphyses of the 2nd toe"},{"container-title":"HP:0001750","author":[{"family":"common ventricle"},{"family":"The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001750","type":"entry-dictionary","title":"Single ventricle"},{"container-title":"HP:0100055","author":[{"family":"absent end part of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100055","type":"entry-dictionary","title":"Absent epiphyses of the 3rd toe"},{"container-title":"HP:0001751","author":[{"family":"interictal vestibular dysfunction"},{"family":"vestibular function defect"},{"family":"impaired vestibular function"},{"family":"An abnormality of the functioning of the vestibular apparatus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001751","type":"entry-dictionary","title":"Vestibular dysfunction"},{"container-title":"HP:0100054","author":[{"family":"triangular end part of the 2nd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100054","type":"entry-dictionary","title":"Triangular epiphyses of the 2nd toe"},{"container-title":"HP:0100057","author":[{"family":"cone-shaped end part of the 3rd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100057","type":"entry-dictionary","title":"Cone-shaped epiphyses of the 3rd toe"},{"container-title":"HP:0100056","author":[{"family":"bracket shaped end part of 3rd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100056","type":"entry-dictionary","title":"Bracket epiphyses of the 3rd toe"},{"container-title":"HP:0100059","author":[{"family":"fragmentation of the end part of the 3rd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100059","type":"entry-dictionary","title":"Fragmentation of the epiphyses of the 3rd toe"},{"container-title":"HP:0100058","author":[{"family":"enlarged end part of the 3rd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100058","type":"entry-dictionary","title":"Enlarged epiphyses of the 3rd toe"},{"container-title":"HP:0001756","author":[{"family":"Reduced functioning of the vestibular apparatus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001756","type":"entry-dictionary","title":"Vestibular hypofunction"},{"container-title":"HP:0100061","author":[{"family":"increased bone density of end part of the 3rd toe bone"},{"family":"Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100061","type":"entry-dictionary","title":"Ivory epiphyses of the 3rd toe"},{"container-title":"HP:0001757","author":[{"family":"high frequency sensorineural hearing impairment"},{"family":"high-tone sensorineural deafness"},{"family":"high-tone sensorineural hearing impairment"},{"family":"A form of sensorineural hearing impairment that affects primarily the higher frequencies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001757","type":"entry-dictionary","title":"High-frequency sensorineural hearing impairment"},{"container-title":"HP:0100060","author":[{"family":"irregular end part of the 3rd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100060","type":"entry-dictionary","title":"Irregular epiphyses of the 3rd toe"},{"container-title":"HP:0100063","author":[{"family":"small end part of the 3rd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100063","type":"entry-dictionary","title":"Small epiphyses of the 3rd toe"},{"container-title":"HP:0100062","author":[{"family":"Pseudoepiphyses of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100062","type":"entry-dictionary","title":"Pseudoepiphyses of the 3rd toe"},{"container-title":"HP:0001760","author":[{"family":"abnormality of the feet"},{"family":"abnormality of the foot"},{"family":"foot deformity"},{"family":"abnormal feet morphology"},{"family":"foot deformities"},{"family":"An abnormality of the skeleton of foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001760","type":"entry-dictionary","title":"Abnormality of the foot"},{"container-title":"HP:0100065","author":[{"family":"triangular end part of the 3rd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100065","type":"entry-dictionary","title":"Triangular epiphyses of the 3rd toe"},{"container-title":"HP:0001761","author":[{"family":"The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001761","type":"entry-dictionary","title":"Pes cavus"},{"container-title":"HP:0100064","author":[{"family":"speckled calcifications in the end part of the 3rd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100064","type":"entry-dictionary","title":"Stippling of the epiphyses of the 3rd toe"},{"container-title":"HP:0001762","author":[{"family":"club feet"},{"family":"club foot"},{"family":"clubfeet"},{"family":"clubfoot"},{"family":"foot, talipes equinovarus"},{"family":"pes equinus"},{"family":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001762","type":"entry-dictionary","title":"Talipes equinovarus"},{"container-title":"HP:0100067","author":[{"family":"bracket shaped end part of 4th toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100067","type":"entry-dictionary","title":"Bracket epiphyses of the 4th toe"},{"container-title":"HP:0001763","author":[{"family":"flat feet"},{"family":"flat foot"},{"family":"dropped arches"},{"family":"fallen arches"},{"family":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001763","type":"entry-dictionary","title":"Pes planus"},{"container-title":"HP:0100066","author":[{"family":"absent end part of the 4th toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100066","type":"entry-dictionary","title":"Absent epiphyses of the 4th toe"},{"container-title":"HP:0100069","author":[{"family":"enlarged end part of the 4th toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100069","type":"entry-dictionary","title":"Enlarged epiphyses of the 4th toe"},{"container-title":"HP:0001765","author":[{"family":"hammer toe"},{"family":"hammertoes"},{"family":"Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001765","type":"entry-dictionary","title":"Hammertoe"},{"container-title":"HP:0100068","author":[{"family":"cone-shaped end part of the 4th toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100068","type":"entry-dictionary","title":"Cone-shaped epiphyses of the 4th toe"},{"container-title":"HP:0100071","author":[{"family":"irregular end part of the 4th toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100071","type":"entry-dictionary","title":"Irregular epiphyses of the 4th toe"},{"container-title":"HP:0100070","author":[{"family":"fragmentation of the end part of the 4th toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100070","type":"entry-dictionary","title":"Fragmentation of the epiphyses of the 4th toe"},{"container-title":"HP:0100073","author":[{"family":"Pseudoepiphyses of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100073","type":"entry-dictionary","title":"Pseudoepiphyses of the 4th toe"},{"container-title":"HP:0001769","author":[{"family":"broad feet"},{"family":"broad foot"},{"family":"wide foot"},{"family":"A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001769","type":"entry-dictionary","title":"Broad foot"},{"container-title":"HP:0100072","author":[{"family":"increased bone density of end part of the 4th toe bone"},{"family":"Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100072","type":"entry-dictionary","title":"Ivory epiphyses of the 4th toe"},{"container-title":"HP:0001770","author":[{"family":"fused toes"},{"family":"syndactyly of toes"},{"family":"syndactyly of feet"},{"family":"webbed toes"},{"family":"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as \"Symphalangism\"."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001770","type":"entry-dictionary","title":"Toe syndactyly"},{"container-title":"HP:0100075","author":[{"family":"speckled calcifications in the end part of the 4th toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100075","type":"entry-dictionary","title":"Stippling of the epiphyses of the 4th toe"},{"container-title":"HP:0001771","author":[{"family":"shortening of the achilles tendon"},{"family":"achilles tendon contractures"},{"family":"tight achilles tendon"},{"family":"contractures of the achilles tendon"},{"family":"A contracture of the Achilles tendon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001771","type":"entry-dictionary","title":"Achilles tendon contracture"},{"container-title":"HP:0100074","author":[{"family":"small end part of the 4th toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100074","type":"entry-dictionary","title":"Small epiphyses of the 4th toe"},{"container-title":"HP:0001772","author":[{"family":"equinovalgus deformity"},{"family":"A deformity of foot and ankle in which the foot is bent down and outwards."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001772","type":"entry-dictionary","title":"Talipes equinovalgus"},{"container-title":"HP:0100077","author":[{"family":"absent end part of the little toe bone"},{"family":"absent end part of the pinky toe bone"},{"family":"absent end part of the pinkie toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100077","type":"entry-dictionary","title":"Absent epiphyses of the 5th toe"},{"container-title":"HP:0001773","author":[{"family":"hypoplastic feet"},{"family":"small feet"},{"family":"short feet"},{"family":"short foot"},{"family":"A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001773","type":"entry-dictionary","title":"Short foot"},{"container-title":"HP:0100076","author":[{"family":"triangular end part of the 4th toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100076","type":"entry-dictionary","title":"Triangular epiphyses of the 4th toe"},{"container-title":"HP:0100079","author":[{"family":"cone-shaped end part of the little toe bone"},{"family":"cone-shaped end part of the pinkie toe bone"},{"family":"cone-shaped end part of the pinky toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100079","type":"entry-dictionary","title":"Cone-shaped epiphyses of the 5th toe"},{"container-title":"HP:0001775","author":[{"family":"Tarsal osteovalgus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001775","type":"entry-dictionary","title":"Tarsal osteovalgus"},{"container-title":"HP:0100078","author":[{"family":"bracket shaped end part of little toe bone"},{"family":"bracket shaped end part of pinkie toe bone"},{"family":"bracket shaped end part of pinky toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100078","type":"entry-dictionary","title":"Bracket epiphyses of the 5th toe"},{"container-title":"HP:0001776","author":[{"family":"bilateral clubfeet"},{"family":"bilateral clubfoot"},{"family":"club foot on both sides"},{"family":"Bilateral clubfoot deformity (see HP:0001762)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001776","type":"entry-dictionary","title":"Bilateral talipes equinovarus"},{"container-title":"HP:0100081","author":[{"family":"fragmentation of the end part of the little toe bone"},{"family":"fragmentation of the end part of the pinky toe bone"},{"family":"fragmentation of the end part of the pinkie toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100081","type":"entry-dictionary","title":"Fragmentation of the epiphyses of the 5th toe"},{"container-title":"HP:0100080","author":[{"family":"enlarged end part of the little toe bone"},{"family":"enlarged end part of the pinky toe bone"},{"family":"enlarged end part of the pinkie toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100080","type":"entry-dictionary","title":"Enlarged epiphyses of the 5th toe"},{"container-title":"HP:0100083","author":[{"family":"increased bone density of end part of the little toe bone"},{"family":"increased bone density of end part of the pinky toe bone"},{"family":"increased bone density of end part of the pinkie toe bone"},{"family":"Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100083","type":"entry-dictionary","title":"Ivory epiphyses of the 5th toe"},{"container-title":"HP:0100082","author":[{"family":"irregular end part of the little toe bone"},{"family":"irregular end part of the pinky toe bone"},{"family":"irregular end part of the pinkie toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100082","type":"entry-dictionary","title":"Irregular epiphyses of the 5th toe"},{"container-title":"HP:0001780","author":[{"family":"abnormalities of the toes"},{"family":"abnormality of toe"},{"family":"An anomaly of a toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001780","type":"entry-dictionary","title":"Abnormality of toe"},{"container-title":"HP:0100085","author":[{"family":"small end part of the little toe bone"},{"family":"small end part of the pinkie toe bone"},{"family":"small end part of the pinky toe 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toe"},{"container-title":"HP:0001783","author":[{"family":"widened metatarsal shaft"},{"family":"wide long bone of foot"},{"family":"broad metatarsals"},{"family":"Increased side-to-side width of a metatarsal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001783","type":"entry-dictionary","title":"Broad metatarsal"},{"container-title":"HP:0100086","author":[{"family":"speckled calcifications in the end part of the little toe bone"},{"family":"speckled calcifications in the end part of the pinkie toe bone"},{"family":"speckled calcifications in the end part of the pinky toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100086","type":"entry-dictionary","title":"Stippling of the epiphyses of the 5th toe"},{"container-title":"HP:0100089","author":[{"family":"abnormality of the end part of the middle bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100089","type":"entry-dictionary","title":"Abnormality of the epiphysis of the middle phalanx of the 2nd 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labor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001788","type":"entry-dictionary","title":"Premature rupture of membranes"},{"container-title":"HP:0100093","author":[{"family":"abnormality of the end part of the innermost bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100093","type":"entry-dictionary","title":"Abnormality of the epiphysis of the proximal phalanx of the 3rd toe"},{"container-title":"HP:0001789","author":[{"family":"The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001789","type":"entry-dictionary","title":"Hydrops fetalis"},{"container-title":"HP:0100092","author":[{"family":"abnormality of the end part of the middle bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100092","type":"entry-dictionary","title":"Abnormality of the epiphysis of the middle phalanx of the 3rd toe"},{"container-title":"HP:0001790","author":[{"family":"non-immune fetal hydrops"},{"family":"hydrops fetalis, non-immune"},{"family":"hydrops fetalis, nonimmune"},{"family":"nonimmune hydrops"},{"family":"A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens ."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001790","type":"entry-dictionary","title":"Nonimmune hydrops fetalis"},{"container-title":"HP:0100095","author":[{"family":"abnormality of the end part of the middle bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100095","type":"entry-dictionary","title":"Abnormality of the epiphysis of the middle phalanx of the 4th toe"},{"container-title":"HP:0001791","author":[{"family":"Accumulation of fluid in the peritoneal cavity during the fetal period."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001791","type":"entry-dictionary","title":"Fetal 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convexity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001795","type":"entry-dictionary","title":"Hyperconvex nail"},{"container-title":"HP:0100098","author":[{"family":"abnormality of the end part of the middle bone of the little toe"},{"family":"abnormality of the end part of the middle bone of the pinkie toe"},{"family":"abnormality of the end part of the middle bone of the pinky toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100098","type":"entry-dictionary","title":"Abnormality of the epiphysis of the middle phalanx of the 5th toe"},{"container-title":"HP:0100101","author":[{"family":"bracket shaped end part of the outermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100101","type":"entry-dictionary","title":"Bracket epiphysis of the distal phalanx of the 2nd toe"},{"container-title":"HP:0100100","author":[{"family":"absent end part of the outermost bone of the 2nd 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toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100102","type":"entry-dictionary","title":"Cone-shaped epiphysis of the distal phalanx of the 2nd toe"},{"container-title":"HP:0001800","author":[{"family":"underdeveloped toenails"},{"family":"Underdevelopment of the toenail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001800","type":"entry-dictionary","title":"Hypoplastic toenails"},{"container-title":"HP:0100105","author":[{"family":"irregular end part of the outermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100105","type":"entry-dictionary","title":"Irregular epiphysis of the distal phalanx of the 2nd toe"},{"container-title":"HP:0100104","author":[{"family":"fragmentation of the end part of the outermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100104","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the distal phalanx of the 2nd toe"},{"container-title":"HP:0001802","author":[{"family":"anonychia of 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nail"},{"container-title":"HP:0100110","author":[{"family":"triangular end part of the outermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100110","type":"entry-dictionary","title":"Triangular epiphysis of the distal phalanx of the 2nd toe"},{"container-title":"HP:0001808","author":[{"family":"brittle nails"},{"family":"Nails that easily break."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001808","type":"entry-dictionary","title":"Fragile nails"},{"container-title":"HP:0100113","author":[{"family":"cone-shaped end part of the middle bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100113","type":"entry-dictionary","title":"Cone-shaped epiphysis of the middle phalanx of the 2nd toe"},{"container-title":"HP:0001809","author":[{"family":"longitudinal splitting of nail"},{"family":"A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of 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The infection can start suddenly (acute paronychia) or gradually (chronic paronychia)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001818","type":"entry-dictionary","title":"Paronychia"},{"container-title":"HP:0100123","author":[{"family":"bracket shaped end part of the innermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100123","type":"entry-dictionary","title":"Bracket epiphysis of the proximal phalanx of the 2nd toe"},{"container-title":"HP:0100122","author":[{"family":"absent end part of the innermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100122","type":"entry-dictionary","title":"Absent epiphysis of the proximal phalanx of the 2nd toe"},{"container-title":"HP:0001820","author":[{"family":"white discoloration of nails"},{"family":"White discoloration of the nails."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001820","type":"entry-dictionary","title":"Leukonychia"},{"container-title":"HP:0100125","author":[{"family":"enlarged end part of the innermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100125","type":"entry-dictionary","title":"Enlarged epiphysis of the proximal phalanx of the 2nd toe"},{"container-title":"HP:0001821","author":[{"family":"broad fingernails"},{"family":"broad nail"},{"family":"wide fingernails"},{"family":"Increased width of nail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001821","type":"entry-dictionary","title":"Broad nail"},{"container-title":"HP:0100124","author":[{"family":"cone-shaped end part of the innermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100124","type":"entry-dictionary","title":"Cone-shaped epiphysis of the proximal phalanx of the 2nd toe"},{"container-title":"HP:0001822","author":[{"family":"lateral deviation of great toe"},{"family":"bunion"},{"family":"lateral deviation of halluces"},{"family":"Lateral deviation of the great toe (i.e., in the direction of the little toe)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001822","type":"entry-dictionary","title":"Hallux valgus"},{"container-title":"HP:0100127","author":[{"family":"irregular end part of the innermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100127","type":"entry-dictionary","title":"Irregular epiphysis of the proximal phalanx of the 2nd toe"},{"container-title":"HP:0100126","author":[{"family":"fragmentation of the end part of the innermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100126","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe"},{"container-title":"HP:0001824","author":[{"family":"Reduction inexisting body weight."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001824","type":"entry-dictionary","title":"Weight loss"},{"container-title":"HP:0100129","author":[{"family":"Pseudoepiphysis of the proximal phalanx of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100129","type":"entry-dictionary","title":"Pseudoepiphysis of the proximal phalanx of the 2nd toe"},{"container-title":"HP:0100128","author":[{"family":"increased bone density of end part of the innermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100128","type":"entry-dictionary","title":"Ivory epiphysis of the proximal phalanx of the 2nd toe"},{"container-title":"HP:0100131","author":[{"family":"speckled calcifications in the end part of the innermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100131","type":"entry-dictionary","title":"Stippling of the epiphysis of the proximal phalanx of the 2nd toe"},{"container-title":"HP:0001827","author":[{"family":"Congenital occlusion of a tube in the genital tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001827","type":"entry-dictionary","title":"Genital tract atresia"},{"container-title":"HP:0100130","author":[{"family":"small end part of the innermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100130","type":"entry-dictionary","title":"Small epiphysis of the proximal phalanx of the 2nd toe"},{"container-title":"HP:0100133","author":[{"family":"abnormality of the pubic hair"},{"family":"Abnormality of the growth of the pubic hair. 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Axillary hair is part of the secondary sexual hair, which normally ensues during puberty."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100134","type":"entry-dictionary","title":"Abnormality of the axillary hair"},{"container-title":"HP:0001832","author":[{"family":"abnormality of the long bone of foot"},{"family":"Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001832","type":"entry-dictionary","title":"Abnormality of the metatarsal bones"},{"container-title":"HP:0100137","author":[{"family":"cone-shaped end part of the outermost bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100137","type":"entry-dictionary","title":"Cone-shaped epiphysis of the distal phalanx of the 3rd toe"},{"container-title":"HP:0001833","author":[{"family":"long feet"},{"family":"long foot"},{"family":"disproportionately large feet"},{"family":"Increased back to front length of the foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001833","type":"entry-dictionary","title":"Long foot"},{"container-title":"HP:0100136","author":[{"family":"bracket shaped end part of the outermost bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100136","type":"entry-dictionary","title":"Bracket epiphysis of the distal phalanx of the 3rd toe"},{"container-title":"HP:0100139","author":[{"family":"fragmentation of the end part of the outermost bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100139","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the distal phalanx of the 3rd toe"},{"container-title":"HP:0100138","author":[{"family":"enlarged end part of the outermost bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100138","type":"entry-dictionary","title":"Enlarged epiphysis of the distal phalanx of the 3rd toe"},{"container-title":"HP:0001836","author":[{"family":"camptodactyly of feet"},{"family":"Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001836","type":"entry-dictionary","title":"Camptodactyly of toe"},{"container-title":"HP:0100141","author":[{"family":"increased bone density of end part of the outermost bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100141","type":"entry-dictionary","title":"Ivory epiphysis of the distal phalanx of the 3rd toe"},{"container-title":"HP:0001837","author":[{"family":"wide toe"},{"family":"broad toe"},{"family":"Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001837","type":"entry-dictionary","title":"Broad toe"},{"container-title":"HP:0100140","author":[{"family":"irregular end part of the outermost bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100140","type":"entry-dictionary","title":"Irregular epiphysis of the distal phalanx of the 3rd toe"},{"container-title":"HP:0001838","author":[{"family":"congenital vertical talus"},{"family":"rocker bottom feet"},{"family":"rocker bottom foot"},{"family":"rockerbottom feet"},{"family":"rocker-bottom feet"},{"family":"The presence of both a prominent heel and a convex contour of the sole."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001838","type":"entry-dictionary","title":"Rocker bottom foot"},{"container-title":"HP:0100143","author":[{"family":"small end part of the outermost bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100143","type":"entry-dictionary","title":"Small epiphysis of the distal phalanx of the 3rd toe"},{"container-title":"HP:0001839","author":[{"family":"split foot"},{"family":"split-foot"},{"family":"foot ectrodactyly"},{"family":"lobster-claw foot deformity"},{"family":"A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001839","type":"entry-dictionary","title":"Split foot"},{"container-title":"HP:0100142","author":[{"family":"Pseudoepiphysis of the distal phalanx of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100142","type":"entry-dictionary","title":"Pseudoepiphysis of the distal phalanx of the 3rd toe"},{"container-title":"HP:0001840","author":[{"family":"metatarsus varus"},{"family":"metatarsus adductovarsus"},{"family":"intoe"},{"family":"forefoot varus"},{"family":"The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001840","type":"entry-dictionary","title":"Metatarsus adductus"},{"container-title":"HP:0100145","author":[{"family":"triangular end part of the outermost bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100145","type":"entry-dictionary","title":"Triangular epiphysis of the distal phalanx of the 3rd toe"},{"container-title":"HP:0001841","author":[{"family":"preaxial polydactyly, feet"},{"family":"polydactyly affecting the hallux"},{"family":"preaxial hallucal polydactyly"},{"family":"preaxial polydactyly of feet"},{"family":"preaxial polydactyly of foot"},{"family":"partial\/complete duplication of the phalanges of the big toe"},{"family":"preaxial polydactyly of the feet"},{"family":"Duplication of all or part of the first ray."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001841","type":"entry-dictionary","title":"Preaxial foot polydactyly"},{"container-title":"HP:0100144","author":[{"family":"speckled calcifications in the end part of the outermost bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100144","type":"entry-dictionary","title":"Stippling of the epiphysis of the distal phalanx of the 3rd toe"},{"container-title":"HP:0001842","author":[{"family":"acroosteolysis of feet"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001842","type":"entry-dictionary","title":"Foot acroosteolysis"},{"container-title":"HP:0100147","author":[{"family":"bracket shaped end part of the middle bone of 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100147","type":"entry-dictionary","title":"Bracket epiphysis of the middle phalanx of the 3rd toe"},{"container-title":"HP:0100146","author":[{"family":"absent end part of the middle bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100146","type":"entry-dictionary","title":"Absent epiphysis of the middle phalanx of the 3rd toe"},{"container-title":"HP:0001844","author":[{"family":"abnormality of the big toe"},{"family":"abnormalities of the hallux"},{"family":"This term applies for all abnormalities of the big toe, also called hallux."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001844","type":"entry-dictionary","title":"Abnormality of the hallux"},{"container-title":"HP:0100149","author":[{"family":"enlarged end part of the middle bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100149","type":"entry-dictionary","title":"Enlarged epiphysis of the middle phalanx of the 3rd toe"},{"container-title":"HP:0001845","author":[{"family":"crossover toe"},{"family":"overriding toes"},{"family":"overlapping toes"},{"family":"Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001845","type":"entry-dictionary","title":"Overlapping toe"},{"container-title":"HP:0100148","author":[{"family":"cone-shaped end part of the middle bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100148","type":"entry-dictionary","title":"Cone-shaped epiphysis of the middle phalanx of the 3rd toe"},{"container-title":"HP:0100151","author":[{"family":"irregular end part of the middle bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100151","type":"entry-dictionary","title":"Irregular epiphysis of the middle phalanx of the 3rd toe"},{"container-title":"HP:0001847","author":[{"family":"large halluces"},{"family":"long big toe"},{"family":"increased length of the hallux"},{"family":"long halluces"},{"family":"Increased length of the big toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001847","type":"entry-dictionary","title":"Long hallux"},{"container-title":"HP:0100150","author":[{"family":"fragmentation of the end part of the middle bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100150","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the middle phalanx of the 3rd toe"},{"container-title":"HP:0001848","author":[{"family":"valgus position of the calcaneus"},{"family":"calcaneovalgus foot"},{"family":"This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001848","type":"entry-dictionary","title":"Calcaneovalgus deformity"},{"container-title":"HP:0100153","author":[{"family":"Pseudoepiphysis of the middle phalanx of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100153","type":"entry-dictionary","title":"Pseudoepiphysis of the middle phalanx of the 3rd toe"},{"container-title":"HP:0001849","author":[{"family":"oligodactyly of feet"},{"family":"missing toes"},{"family":"A developmental defect resulting in the presence of fewer than the normal number of toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001849","type":"entry-dictionary","title":"Foot oligodactyly"},{"container-title":"HP:0100152","author":[{"family":"increased bone density of end part of the middle bone of the 3rd 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cells)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001877","type":"entry-dictionary","title":"Abnormal erythrocyte morphology"},{"container-title":"HP:0100180","author":[{"family":"absent end part of the middle bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100180","type":"entry-dictionary","title":"Absent epiphysis of the middle phalanx of the 4th toe"},{"container-title":"HP:0001878","author":[{"family":"haemolytic anaemia"},{"family":"increased hemolysis"},{"family":"A type of anemia caused by premature destruction of red blood cells (hemolysis)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001878","type":"entry-dictionary","title":"Hemolytic anemia"},{"container-title":"HP:0100183","author":[{"family":"enlarged end part of the middle bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100183","type":"entry-dictionary","title":"Enlarged epiphysis of the middle phalanx of the 4th toe"},{"container-title":"HP:0001879","author":[{"family":"An eosinophil abnormality."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001879","type":"entry-dictionary","title":"Abnormality of eosinophils"},{"container-title":"HP:0100182","author":[{"family":"cone-shaped end part of the middle bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100182","type":"entry-dictionary","title":"Cone-shaped epiphysis of the middle phalanx of the 4th toe"},{"container-title":"HP:0001880","author":[{"family":"high blood eosinophil count"},{"family":"Increased count of eosinophils in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001880","type":"entry-dictionary","title":"Eosinophilia"},{"container-title":"HP:0100185","author":[{"family":"irregular end part of the middle bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100185","type":"entry-dictionary","title":"Irregular epiphysis of the middle phalanx of the 4th toe"},{"container-title":"HP:0001881","author":[{"family":"abnormal leukocyte function"},{"family":"abnormality of leukocytes"},{"family":"An abnormality of leukocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001881","type":"entry-dictionary","title":"Abnormal leukocyte morphology"},{"container-title":"HP:0100184","author":[{"family":"fragmentation of the end part of the middle bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100184","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the middle phalanx of the 4th toe"},{"container-title":"HP:0001882","author":[{"family":"decreased blood leukocyte number"},{"family":"low white blood cell count"},{"family":"An abnormal decreased number of leukocytes in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001882","type":"entry-dictionary","title":"Leukopenia"},{"container-title":"HP:0100187","author":[{"family":"Pseudoepiphysis of the middle phalanx of the 4th 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positional or structural foot deformity depending on severity and\/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001884","type":"entry-dictionary","title":"Talipes calcaneovalgus"},{"container-title":"HP:0100189","author":[{"family":"speckled calcifications in the end part of the middle bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100189","type":"entry-dictionary","title":"Stippling of the epiphysis of the middle phalanx of the 4th toe"},{"container-title":"HP:0001885","author":[{"family":"short second toe"},{"family":"Underdevelopment (hypoplasia) of the second toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001885","type":"entry-dictionary","title":"Short 2nd toe"},{"container-title":"HP:0100188","author":[{"family":"small end part of middle long bone of 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100188","type":"entry-dictionary","title":"Small epiphysis of the middle phalanx of the 4th toe"},{"container-title":"HP:0001886","author":[{"family":"foot bone infection"},{"family":"An infection of bone of the foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001886","type":"entry-dictionary","title":"Foot osteomyelitis"},{"container-title":"HP:0100191","author":[{"family":"absent end part of the innermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100191","type":"entry-dictionary","title":"Absent epiphysis of the proximal phalanx of the 4th toe"},{"container-title":"HP:0100190","author":[{"family":"triangular end part of the middle bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100190","type":"entry-dictionary","title":"Triangular epiphysis of the middle phalanx of the 4th toe"},{"container-title":"HP:0001888","author":[{"family":"decreased blood lymphocyte number"},{"family":"low lymphocyte number"},{"family":"lymphocytopenia"},{"family":"A reduced number of lymphocytes in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001888","type":"entry-dictionary","title":"Lymphopenia"},{"container-title":"HP:0100193","author":[{"family":"cone-shaped end part of the innermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100193","type":"entry-dictionary","title":"Cone-shaped epiphysis of the proximal phalanx of the 4th toe"},{"container-title":"HP:0001889","author":[{"family":"Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001889","type":"entry-dictionary","title":"Megaloblastic anemia"},{"container-title":"HP:0100192","author":[{"family":"bracket shaped end part of the innermost bone of 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100192","type":"entry-dictionary","title":"Bracket epiphysis of the proximal phalanx of the 4th toe"},{"container-title":"HP:0001890","author":[{"family":"hemolytic anemia, autoimmune"},{"family":"autoimmune haemolytic anaemia"},{"family":"An autoimmune form of hemolytic anemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001890","type":"entry-dictionary","title":"Autoimmune hemolytic anemia"},{"container-title":"HP:0100195","author":[{"family":"fragmentation of the end part of the innermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100195","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the proximal phalanx of the 4th toe"},{"container-title":"HP:0001891","author":[{"family":"ferropenic"},{"family":"iron-deficiency anemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001891","type":"entry-dictionary","title":"Iron deficiency anemia"},{"container-title":"HP:0100194","author":[{"family":"enlarged end part of the innermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100194","type":"entry-dictionary","title":"Enlarged epiphysis of the proximal phalanx of the 4th toe"},{"container-title":"HP:0001892","author":[{"family":"hemorrhagic diathesis"},{"family":"bleeding diathesis"},{"family":"bleeding tendency"},{"family":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001892","type":"entry-dictionary","title":"Abnormal bleeding"},{"container-title":"HP:0100197","author":[{"family":"increased bone density of end part of the innermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100197","type":"entry-dictionary","title":"Ivory epiphysis of the proximal phalanx of the 4th toe"},{"container-title":"HP:0100196","author":[{"family":"irregular end part of the innermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100196","type":"entry-dictionary","title":"Irregular epiphysis of the proximal phalanx of the 4th toe"},{"container-title":"HP:0001894","author":[{"family":"thrombocythaemia"},{"family":"thrombocythemia"},{"family":"increased platelet count"},{"family":"Increased numbers of platelets in the peripheral blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001894","type":"entry-dictionary","title":"Thrombocytosis"},{"container-title":"HP:0100199","author":[{"family":"small end part of the innermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100199","type":"entry-dictionary","title":"Small epiphysis of the proximal phalanx of the 4th toe"},{"container-title":"HP:0001895","author":[{"family":"Normochromic anemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001895","type":"entry-dictionary","title":"Normochromic anemia"},{"container-title":"HP:0100198","author":[{"family":"Pseudoepiphysis of the proximal phalanx of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100198","type":"entry-dictionary","title":"Pseudoepiphysis of the proximal phalanx of the 4th toe"},{"container-title":"HP:0001896","author":[{"family":"A reduced number of reticulocytes in the peripheral blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001896","type":"entry-dictionary","title":"Reticulocytopenia"},{"container-title":"HP:0100201","author":[{"family":"triangular end part of the innermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100201","type":"entry-dictionary","title":"Triangular epiphysis of the proximal phalanx of the 4th toe"},{"container-title":"HP:0001897","author":[{"family":"A kind of anemia in which the volume of the red blood cells is normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001897","type":"entry-dictionary","title":"Normocytic anemia"},{"container-title":"HP:0100200","author":[{"family":"speckled calcifications in the end part of the innermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100200","type":"entry-dictionary","title":"Stippling of the epiphysis of the proximal phalanx of the 4th toe"},{"container-title":"HP:0001898","author":[{"family":"The presence of an increased mass of red blood cells in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001898","type":"entry-dictionary","title":"Increased red blood cell mass"},{"container-title":"HP:0100203","author":[{"family":"bracket shaped end part of the outermost bone of the pinky toe"},{"family":"bracket shaped end part of the outermost bone of the little toe"},{"family":"bracket shaped end part of the outermost bone of the pinkie toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100203","type":"entry-dictionary","title":"Bracket epiphysis of the distal phalanx of the 5th toe"},{"container-title":"HP:0001899","author":[{"family":"An increase in the volume of packed erythrocytes in a blood specimen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001899","type":"entry-dictionary","title":"Increased hematocrit"},{"container-title":"HP:0100202","author":[{"family":"absent end part of the outermost bone of the little toe"},{"family":"absent end part of the outermost bone of the pinky 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The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001902","type":"entry-dictionary","title":"Giant platelets"},{"container-title":"HP:0100207","author":[{"family":"irregular end part of the outermost bone of the pinky toe"},{"family":"irregular end part of the outermost bone of the pinkie toe"},{"family":"irregular end part of the outermost bone of the little toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100207","type":"entry-dictionary","title":"Irregular epiphysis of the distal phalanx of the 5th toe"},{"container-title":"HP:0001903","author":[{"family":"anaemia"},{"family":"decreased hemoglobin"},{"family":"A reduction in erythrocytes volume or hemoglobin concentration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001903","type":"entry-dictionary","title":"Anemia"},{"container-title":"HP:0100206","author":[{"family":"fragmentation of the end part of the outermost bone of the little 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end part of the outermost bone of the pinkie toe"},{"family":"triangular end part of the outermost bone of the pinky toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100212","type":"entry-dictionary","title":"Triangular epiphysis of the distal phalanx of the 5th toe"},{"container-title":"HP:0100215","author":[{"family":"cone-shaped end part of the middle bone of the pinky toe"},{"family":"cone-shaped end part of the middle bone of the pinkie toe"},{"family":"cone-shaped end part of the middle bone of the little toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100215","type":"entry-dictionary","title":"Cone-shaped epiphysis of the middle phalanx of the 5th toe"},{"container-title":"HP:0001911","author":[{"family":"abnormality of neutrophil"},{"family":"An abnormality of granulocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001911","type":"entry-dictionary","title":"Abnormality of granulocytes"},{"container-title":"HP:0100214","author":[{"family":"bracket shaped end part of 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the renal artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001920","type":"entry-dictionary","title":"Renal artery stenosis"},{"container-title":"HP:0100225","author":[{"family":"bracket shaped end part of the innermost bone of the pinkie toe"},{"family":"bracket shaped end part of the innermost bone of the pinky toe"},{"family":"bracket shaped end part of the innermost bone of the little toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100225","type":"entry-dictionary","title":"Bracket epiphysis of the proximal phalanx of the 5th toe"},{"container-title":"HP:0100224","author":[{"family":"absent end part of the innermost bone of the pinky toe"},{"family":"absent end part of the innermost bone of the pinkie toe"},{"family":"absent end part of the innermost bone of the little toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100224","type":"entry-dictionary","title":"Absent epiphysis of the proximal phalanx of the 5th toe"},{"container-title":"HP:0001922","author":[{"family":"enlarged lysosomal vacuoles in lymphocytes"},{"family":"vacuolated blood lymphocytes"},{"family":"The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001922","type":"entry-dictionary","title":"Vacuolated lymphocytes"},{"container-title":"HP:0100227","author":[{"family":"enlarged end part of the innermost bone of the little toe"},{"family":"enlarged end part of the innermost bone of the pinky toe"},{"family":"enlarged end part of the innermost bone of the pinkie toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100227","type":"entry-dictionary","title":"Enlarged epiphysis of the proximal phalanx of the 5th toe"},{"container-title":"HP:0001923","author":[{"family":"increased reticulocytes"},{"family":"increased reticulocyte count"},{"family":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood 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A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001924","type":"entry-dictionary","title":"Sideroblastic anemia"},{"container-title":"HP:0100229","author":[{"family":"irregular end part of the innermost bone of the pinky toe"},{"family":"irregular end part of the innermost bone of the little toe"},{"family":"irregular end part of the innermost bone of the pinkie toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100229","type":"entry-dictionary","title":"Irregular epiphysis of the proximal phalanx of the 5th toe"},{"container-title":"HP:0100228","author":[{"family":"fragmentation of the end part of the innermost bone of the little toe"},{"family":"fragmentation of the end part of the innermost bone of the pinkie toe"},{"family":"fragmentation of the end part of the innermost bone of the pinky toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100228","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the proximal phalanx of the 5th toe"},{"container-title":"HP:0100231","author":[{"family":"Pseudoepiphysis of the proximal phalanx of the 5th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100231","type":"entry-dictionary","title":"Pseudoepiphysis of the proximal phalanx of the 5th toe"},{"container-title":"HP:0001927","author":[{"family":"acanthocytes"},{"family":"red cell acanthocytosis"},{"family":"Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001927","type":"entry-dictionary","title":"Acanthocytosis"},{"container-title":"HP:0100230","author":[{"family":"increased bone density of end part of the innermost bone of the pinkie toe"},{"family":"increased bone density of end part of the innermost bone of the little toe"},{"family":"increased bone density of end part of the innermost bone of the pinky toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100230","type":"entry-dictionary","title":"Ivory epiphysis of the proximal phalanx of the 5th toe"},{"container-title":"HP:0001928","author":[{"family":"blood coagulation disorder"},{"family":"abnormal blood coagulation studies"},{"family":"coagulation abnormality"},{"family":"haemorrhagic disorders"},{"family":"coagulation abnormalities"},{"family":"abnormal blood clotting"},{"family":"An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001928","type":"entry-dictionary","title":"Abnormality of coagulation"},{"container-title":"HP:0100233","author":[{"family":"speckled calcifications in the end part of the innermost bone of the little toe"},{"family":"speckled calcifications in the end part of the innermost bone of the pinky toe"},{"family":"speckled calcifications in the end part of the innermost bone of the pinkie toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100233","type":"entry-dictionary","title":"Stippling of the epiphysis of the proximal phalanx of the 5th toe"},{"container-title":"HP:0001929","author":[{"family":"factor xi deficiency"},{"family":"low factor xi activity"},{"family":"Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001929","type":"entry-dictionary","title":"Reduced factor XI activity"},{"container-title":"HP:0100232","author":[{"family":"small end part of the innermost bone of the little toe"},{"family":"small end part of the innermost bone of the pinky toe"},{"family":"small end part of the innermost bone of the pinkie toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100232","type":"entry-dictionary","title":"Small epiphysis of the proximal phalanx of the 5th toe"},{"container-title":"HP:0001930","author":[{"family":"Nonspherocytic hemolytic anemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001930","type":"entry-dictionary","title":"Nonspherocytic hemolytic anemia"},{"container-title":"HP:0100235","author":[{"family":"fusion involving bones of the toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100235","type":"entry-dictionary","title":"Synostosis involving bones of the toes"},{"container-title":"HP:0001931","author":[{"family":"hypochromic anaemia"},{"family":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001931","type":"entry-dictionary","title":"Hypochromic anemia"},{"container-title":"HP:0100234","author":[{"family":"triangular end part of the innermost bone of the pinky toe"},{"family":"triangular end part of the innermost bone of the pinkie toe"},{"family":"triangular end part of the innermost bone of the little toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100234","type":"entry-dictionary","title":"Triangular epiphysis of the proximal phalanx of the 5th toe"},{"container-title":"HP:0100237","author":[{"family":"Proximal foot symphalangism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100237","type":"entry-dictionary","title":"Proximal foot symphalangism"},{"container-title":"HP:0001933","author":[{"family":"bleeding below the skin"},{"family":"This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001933","type":"entry-dictionary","title":"Subcutaneous hemorrhage"},{"container-title":"HP:0001934","author":[{"family":"excessive bleeding after minor trauma"},{"family":"frequent bleeding with trauma"},{"family":"prolonged bleeding after minor trauma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001934","type":"entry-dictionary","title":"Persistent bleeding after trauma"},{"container-title":"HP:0001935","author":[{"family":"A kind of anemia in which the volume of the red blood cells is reduced."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001935","type":"entry-dictionary","title":"Microcytic anemia"},{"container-title":"HP:0100238","author":[{"family":"fusion involving bones of the upper limbs"},{"family":"An abnormal union between bones or parts of bones of the upper limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100238","type":"entry-dictionary","title":"Synostosis involving bones of the upper limbs"},{"container-title":"HP:0100241","author":[{"family":"Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100241","type":"entry-dictionary","title":"Ectopic respiratory mucosa"},{"container-title":"HP:0001937","author":[{"family":"Microangiopathic hemolytic anemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001937","type":"entry-dictionary","title":"Microangiopathic hemolytic anemia"},{"container-title":"HP:0100240","author":[{"family":"bony ankylosis"},{"family":"fusion of joints"},{"family":"The abnormal fusion of neighboring bones across a joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100240","type":"entry-dictionary","title":"Synostosis of joints"},{"container-title":"HP:0100243","author":[{"family":"A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100243","type":"entry-dictionary","title":"Leiomyosarcoma"},{"container-title":"HP:0001939","author":[{"family":"laboratory abnormality"},{"family":"metabolism abnormality"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001939","type":"entry-dictionary","title":"Abnormality of metabolism\/homeostasis"},{"container-title":"HP:0100242","author":[{"family":"A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100242","type":"entry-dictionary","title":"Sarcoma"},{"container-title":"HP:0100245","author":[{"family":"Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100245","type":"entry-dictionary","title":"Desmoid tumors"},{"container-title":"HP:0001941","author":[{"family":"acidemia"},{"family":"Abnormal acid accumulation or depletion of base."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001941","type":"entry-dictionary","title":"Acidosis"},{"container-title":"HP:0100244","author":[{"family":"A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100244","type":"entry-dictionary","title":"Fibrosarcoma"},{"container-title":"HP:0001942","author":[{"family":"Acid accumulation or depletion of base in the body due to buildup of metabolic acids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001942","type":"entry-dictionary","title":"Metabolic acidosis"},{"container-title":"HP:0100247","author":[{"family":"hiccups"},{"family":"recurrent synchronous diaphragmatic flutter"},{"family":"recurrent hiccup"},{"family":"recurrent hiccough"},{"family":"A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100247","type":"entry-dictionary","title":"Recurrent singultus"},{"container-title":"HP:0001943","author":[{"family":"low blood sugar"},{"family":"hypoglycaemia"},{"family":"A decreased concentration of glucose in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001943","type":"entry-dictionary","title":"Hypoglycemia"},{"container-title":"HP:0100246","author":[{"family":"Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100246","type":"entry-dictionary","title":"Osteoma"},{"container-title":"HP:0001944","author":[{"family":"dehydration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001944","type":"entry-dictionary","title":"Dehydration"},{"container-title":"HP:0100249","author":[{"family":"skeletal muscle calcinosis"},{"family":"Deposition of calcium salts in muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100249","type":"entry-dictionary","title":"Calcification of muscles"},{"container-title":"HP:0001945","author":[{"family":"hyperthermia"},{"family":"fever"},{"family":"pyrexia"},{"family":"Elevated body temperature due to failed thermoregulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001945","type":"entry-dictionary","title":"Fever"},{"container-title":"HP:0100248","author":[{"family":"Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and\/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100248","type":"entry-dictionary","title":"Hemiballismus"},{"container-title":"HP:0001946","author":[{"family":"high levels of ketone bodies"},{"family":"ketonemia"},{"family":"Presence of elevated levels of ketone bodies in the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001946","type":"entry-dictionary","title":"Ketosis"},{"container-title":"HP:0100251","author":[{"family":"Lipomas of the central neryous system"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100251","type":"entry-dictionary","title":"Lipomas of the central neryous system"},{"container-title":"HP:0001947","author":[{"family":"Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001947","type":"entry-dictionary","title":"Renal tubular acidosis"},{"container-title":"HP:0100250","author":[{"family":"Calcium deposition affecting the Meninges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100250","type":"entry-dictionary","title":"Meningeal calcification"},{"container-title":"HP:0001948","author":[{"family":"Depletion of acid or accumulation base in the body fluids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001948","type":"entry-dictionary","title":"Alkalosis"},{"container-title":"HP:0100253","author":[{"family":"abnormality of the marrow cavity of the long bones"},{"family":"An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and\/or yellow bone marrow (adipose tissue) is stored."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100253","type":"entry-dictionary","title":"Abnormality of the medullary cavity of the long bones"},{"container-title":"HP:0001949","author":[{"family":"Hypokalemic alkalosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001949","type":"entry-dictionary","title":"Hypokalemic alkalosis"},{"container-title":"HP:0100252","author":[{"family":"Diaphyseal dysplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100252","type":"entry-dictionary","title":"Diaphyseal dysplasia"},{"container-title":"HP:0001950","author":[{"family":"Alkalosis due to excess loss of carbon dioxide from the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001950","type":"entry-dictionary","title":"Respiratory alkalosis"},{"container-title":"HP:0100255","author":[{"family":"The presence of dysplastic regions in metaphyseal regions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100255","type":"entry-dictionary","title":"Metaphyseal dysplasia"},{"container-title":"HP:0001951","author":[{"family":"Episodic ammonia intoxication"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001951","type":"entry-dictionary","title":"Episodic ammonia intoxication"},{"container-title":"HP:0100254","author":[{"family":"Stenosis of the medullary cavity of the long bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100254","type":"entry-dictionary","title":"Stenosis of the medullary cavity of the long bones"},{"container-title":"HP:0001952","author":[{"family":"Abnormal glucose tolerance"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001952","type":"entry-dictionary","title":"Abnormal glucose tolerance"},{"container-title":"HP:0100257","author":[{"family":"lobster claw hand"},{"family":"cleft hand"},{"family":"A condition in which middle parts of the hands and\/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe\/fingers over absent 2nd or 3rd toes\/fingers as far as oligo- or monodactyl hands and\/or feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100257","type":"entry-dictionary","title":"Ectrodactyly"},{"container-title":"HP:0001953","author":[{"family":"diabetic ketosis"},{"family":"A type of diabetic metabolic abnormality with an accumulation of ketone bodies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001953","type":"entry-dictionary","title":"Diabetic ketoacidosis"},{"container-title":"HP:0100256","author":[{"family":"braindruse"},{"family":"senile druse"},{"family":"neuritic plaques"},{"family":"Senile plaques are extracellular deposits of amyloid in the gray matter of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100256","type":"entry-dictionary","title":"Senile plaques"},{"container-title":"HP:0001954","author":[{"family":"increased body temperature, episodic"},{"family":"episodic fever"},{"family":"intermittent fever"},{"family":"hyperthermia, episodic"},{"family":"Periodic (episodic or recurrent) bouts of fever."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001954","type":"entry-dictionary","title":"Episodic fever"},{"container-title":"HP:0100259","author":[{"family":"postaxial hexadactyly"},{"family":"A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100259","type":"entry-dictionary","title":"Postaxial polydactyly"},{"container-title":"HP:0001955","author":[{"family":"unexplained fevers"},{"family":"Episodes of fever for which no infectious cause can be identified."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001955","type":"entry-dictionary","title":"Unexplained fevers"},{"container-title":"HP:0100258","author":[{"family":"polydactyly, preaxial"},{"family":"A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100258","type":"entry-dictionary","title":"Preaxial polydactyly"},{"container-title":"HP:0001956","author":[{"family":"truncal obesity"},{"family":"centripetal obesity"},{"family":"Obesity located preferentially in the trunk of the body as opposed to the extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001956","type":"entry-dictionary","title":"Truncal obesity"},{"container-title":"HP:0100261","author":[{"family":"abnormality of the sinew"},{"family":"abnormal shape of tendon"},{"family":"An abnormality of the structure or form of the tendons, also often called sinews."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100261","type":"entry-dictionary","title":"Abnormal tendon morphology"},{"container-title":"HP:0100260","author":[{"family":"intercalary polydactyly"},{"family":"central polydactyly"},{"family":"insertional polydactyly"},{"family":"The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal\/tarsal with associated osseous syndactyly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100260","type":"entry-dictionary","title":"Mesoaxial polydactyly"},{"container-title":"HP:0001958","author":[{"family":"Nonketotic hypoglycemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001958","type":"entry-dictionary","title":"Nonketotic hypoglycemia"},{"container-title":"HP:0100263","author":[{"family":"Distal symphalangism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100263","type":"entry-dictionary","title":"Distal symphalangism"},{"container-title":"HP:0001959","author":[{"family":"Excessive thirst manifested by excessive fluid intake."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001959","type":"entry-dictionary","title":"Polydipsia"},{"container-title":"HP:0100262","author":[{"family":"fusion involving digits"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100262","type":"entry-dictionary","title":"Synostosis involving digits"},{"container-title":"HP:0001960","author":[{"family":"Hypokalemic metabolic alkalosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001960","type":"entry-dictionary","title":"Hypokalemic metabolic alkalosis"},{"container-title":"HP:0100265","author":[{"family":"fusion of long bones of hand\/long bones of foot"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100265","type":"entry-dictionary","title":"Synostosis of metacarpals\/metatarsals"},{"container-title":"HP:0001961","author":[{"family":"underdeveloped heart"},{"family":"small heart"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001961","type":"entry-dictionary","title":"Hypoplastic heart"},{"container-title":"HP:0100264","author":[{"family":"cushing's symphalangism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100264","type":"entry-dictionary","title":"Proximal symphalangism"},{"container-title":"HP:0001962","author":[{"family":"skipped heart beat"},{"family":"missed heart beat"},{"family":"heart palpitations"},{"family":"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001962","type":"entry-dictionary","title":"Palpitations"},{"container-title":"HP:0100267","author":[{"family":"A depression located on a lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100267","type":"entry-dictionary","title":"Lip pit"},{"container-title":"HP:0001963","author":[{"family":"abnormal speech discrimination"},{"family":"poor speech discrimination"},{"family":"A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001963","type":"entry-dictionary","title":"Abnormal speech discrimination"},{"container-title":"HP:0100266","author":[{"family":"wrist bone\/ankle bone fusions"},{"family":"carpal and tarsal fusions"},{"family":"fusion of carpal and tarsal bones"},{"family":"coalescence of carpal and tarsal bones"},{"family":"The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100266","type":"entry-dictionary","title":"Synostosis of carpals\/tarsals"},{"container-title":"HP:0001964","author":[{"family":"absent\/underdeveloped long bone of foot"},{"family":"absent or hypoplastic metatarsal"},{"family":"absent\/small long bone of foot"},{"family":"aplastic\/hypoplastic metatarsals"},{"family":"absent\/hypoplastic metatarsals"},{"family":"absent\/hypoplastic metacarpals"},{"family":"Absence or underdevelopment of the metatarsal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001964","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of metatarsal bones"},{"container-title":"HP:0100269","author":[{"family":"paramedian labial pits"},{"family":"Depression located paramedially on the vermilion of a lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100269","type":"entry-dictionary","title":"Paramedian lip pit"},{"container-title":"HP:0001965","author":[{"family":"abnormality of the scalp"},{"family":"anomaly of scalp"},{"family":"Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001965","type":"entry-dictionary","title":"Abnormality of the scalp"},{"container-title":"HP:0100268","author":[{"family":"Depression located on the vermilion of the upper lip, usually paramedian."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100268","type":"entry-dictionary","title":"Upper lip pit"},{"container-title":"HP:0001966","author":[{"family":"An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001966","type":"entry-dictionary","title":"Mesangial abnormality"},{"container-title":"HP:0100271","author":[{"family":"Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100271","type":"entry-dictionary","title":"Hyponasal speech"},{"container-title":"HP:0001967","author":[{"family":"diffuse mesangial sclerosis glomerulopathy"},{"family":"Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001967","type":"entry-dictionary","title":"Diffuse mesangial sclerosis"},{"container-title":"HP:0100270","author":[{"family":"An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and\/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100270","type":"entry-dictionary","title":"Abnormality of dorsoventral patterning of the limbs"},{"container-title":"HP:0100273","author":[{"family":"colon tumor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100273","type":"entry-dictionary","title":"Neoplasm of the colon"},{"container-title":"HP:0001969","author":[{"family":"tubulointerstitial nephropathy"},{"family":"An abnormality that involves the tubules and interstitial tissue of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001969","type":"entry-dictionary","title":"Tubulointerstitial abnormality"},{"container-title":"HP:0100272","author":[{"family":"A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100272","type":"entry-dictionary","title":"Branchial sinus"},{"container-title":"HP:0001970","author":[{"family":"nephritis, tubulointerstitial"},{"family":"interstitial nephritis"},{"family":"A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001970","type":"entry-dictionary","title":"Tubulointerstitial nephritis"},{"container-title":"HP:0100275","author":[{"family":"Diffuse unlocalised atrophy affecting the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100275","type":"entry-dictionary","title":"Diffuse cerebellar atrophy"},{"container-title":"HP:0001971","author":[{"family":"A malfunctioning of the spleen in which it prematurely destroys red blood cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001971","type":"entry-dictionary","title":"Hypersplenism"},{"container-title":"HP:0100274","author":[{"family":"Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100274","type":"entry-dictionary","title":"Gustatory lacrimation"},{"container-title":"HP:0001972","author":[{"family":"A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001972","type":"entry-dictionary","title":"Macrocytic anemia"},{"container-title":"HP:0100277","author":[{"family":"periauricular fistulas"},{"family":"periauricular pits"},{"family":"periauricular sinus"},{"family":"pits around the ear"},{"family":"periauricular earpits"},{"family":"Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100277","type":"entry-dictionary","title":"Periauricular skin pits"},{"container-title":"HP:0001973","author":[{"family":"idiopathic thrombocytopenic purpura"},{"family":"immune thrombocytopenia"},{"family":"idiopathic thrombocytopenia"},{"family":"The presence of thrombocytopenia in combination with detection of antiplatelet antibodies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001973","type":"entry-dictionary","title":"Autoimmune thrombocytopenia"},{"container-title":"HP:0100276","author":[{"family":"skin pits"},{"family":"A small, skin-lined tract that leads from the surface to deep within the tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100276","type":"entry-dictionary","title":"Skin pit"},{"container-title":"HP:0001974","author":[{"family":"elevated white blood count"},{"family":"increased blood leukocyte number"},{"family":"high white blood count"},{"family":"An abnormal increase in the number of leukocytes in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001974","type":"entry-dictionary","title":"Leukocytosis"},{"container-title":"HP:0100279","author":[{"family":"colitis ulcerosa"},{"family":"A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100279","type":"entry-dictionary","title":"Ulcerative colitis"},{"container-title":"HP:0001975","author":[{"family":"glanzmann thrombasthenia"},{"family":"reduced level of platelet glycoprotein iib\/iiia complex"},{"family":"Decreased cell membrane concentration of glycoprotein IIb-IIIa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001975","type":"entry-dictionary","title":"Decreased platelet glycoprotein IIb-IIIa"},{"container-title":"HP:0001976","author":[{"family":"anti-thrombin iii deficiency"},{"family":"antithrombin iii deficiency"},{"family":"decreased antithrombin iii"},{"family":"An abnormality of coagulation related to a decreased concentration of antithrombin-III."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001976","type":"entry-dictionary","title":"Reduced antithrombin III activity"},{"container-title":"HP:0100281","author":[{"family":"A chronic inflammatory disease of the large intestine (colon, cecum and rectum)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100281","type":"entry-dictionary","title":"Chronic colitis"},{"container-title":"HP:0001977","author":[{"family":"abnormal blood clot"},{"family":"Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001977","type":"entry-dictionary","title":"Abnormal thrombosis"},{"container-title":"HP:0100280","author":[{"family":"granulomatous enteritis and colitis"},{"family":"morbus crohn"},{"family":"A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100280","type":"entry-dictionary","title":"Crohn's disease"},{"container-title":"HP:0001978","author":[{"family":"extramedullary erythropoiesis"},{"family":"The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001978","type":"entry-dictionary","title":"Extramedullary hematopoiesis"},{"container-title":"HP:0100283","author":[{"family":"Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100283","type":"entry-dictionary","title":"EMG: continuous motor unit activity at rest"},{"container-title":"HP:0100282","author":[{"family":"An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100282","type":"entry-dictionary","title":"Acute colitis"},{"container-title":"HP:0001980","author":[{"family":"Abnormal increased number of megaloblasts in the bone marrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001980","type":"entry-dictionary","title":"Megaloblastic bone marrow"},{"container-title":"HP:0100285","author":[{"family":"An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100285","type":"entry-dictionary","title":"EMG: impaired neuromuscular transmission"},{"container-title":"HP:0001981","author":[{"family":"schistocytes"},{"family":"The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001981","type":"entry-dictionary","title":"Schistocytosis"},{"container-title":"HP:0100284","author":[{"family":"High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150\/second down to 20\/second and producing a sound that has been referred to as a dive bomber sound."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100284","type":"entry-dictionary","title":"EMG: myotonic discharges"},{"container-title":"HP:0001982","author":[{"family":"sea-blue histiocyte"},{"family":"'sea blue' histiocytes"},{"family":"An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001982","type":"entry-dictionary","title":"Sea-blue histiocytosis"},{"container-title":"HP:0100287","author":[{"family":"The presence of reduced conduction velocity of motor nerves on electromyography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100287","type":"entry-dictionary","title":"EMG: slow motor conduction"},{"container-title":"HP:0001983","author":[{"family":"cd43 defectively expressed on surface of blood cells"},{"family":"reduced lymphocyte surface expression of sialophorin"},{"family":"A reduction in the expression of CD43 on the cell surface of lymphocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001983","type":"entry-dictionary","title":"Reduced lymphocyte surface expression of CD43"},{"container-title":"HP:0001984","author":[{"family":"Intolerance to protein"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001984","type":"entry-dictionary","title":"Intolerance to protein"},{"container-title":"HP:0100289","author":[{"family":"abnormality of pattern reversal vep"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100289","type":"entry-dictionary","title":"Abnormality of pattern reversal visual evoked potentials"},{"container-title":"HP:0001985","author":[{"family":"hypoglycemia, hypoketotic"},{"family":"A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001985","type":"entry-dictionary","title":"Hypoketotic hypoglycemia"},{"container-title":"HP:0100288","author":[{"family":"The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100288","type":"entry-dictionary","title":"EMG: myokymic discharges"},{"container-title":"HP:0001986","author":[{"family":"hyperosmolar dehydration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001986","type":"entry-dictionary","title":"Hypertonic dehydration"},{"container-title":"HP:0100291","author":[{"family":"Abnormality of central somatosensory evoked potentials"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100291","type":"entry-dictionary","title":"Abnormality of central somatosensory evoked potentials"},{"container-title":"HP:0001987","author":[{"family":"high blood ammonia levels"},{"family":"An increased concentration of ammonia in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001987","type":"entry-dictionary","title":"Hyperammonemia"},{"container-title":"HP:0100290","author":[{"family":"Abnormality of peripheral somatosensory evoked potentials"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100290","type":"entry-dictionary","title":"Abnormality of peripheral somatosensory evoked potentials"},{"container-title":"HP:0001988","author":[{"family":"recurrent hypoglycaemia"},{"family":"hypoglycaemia, recurrent"},{"family":"recurrent hypoglycemic episodes"},{"family":"hypoglycemia, recurrent"},{"family":"recurrent low blood sugar levels"},{"family":"Recurrent episodes of decreased concentration of glucose in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0001988","type":"entry-dictionary","title":"Recurrent hypoglycemia"},{"container-title":"HP:0100293","author":[{"family":"muscle fibre hypertrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100293","type":"entry-dictionary","title":"Muscle fiber hypertrophy"},{"container-title":"HP:0001989","author":[{"family":"early severe fetal akinesia sequence"},{"family":"Decreases fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. 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rectum"},{"container-title":"HP:0100339","author":[{"family":"Abnormality of the os naviculare pedis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100339","type":"entry-dictionary","title":"Abnormality of the os naviculare pedis"},{"container-title":"HP:0002035","author":[{"family":"rectal prolapsed"},{"family":"Protrusion of the rectal mucous membrane through the anus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002035","type":"entry-dictionary","title":"Rectal prolapse"},{"container-title":"HP:0100338","author":[{"family":"paramedian cleft palate"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100338","type":"entry-dictionary","title":"Non-midline cleft palate"},{"container-title":"HP:0002036","author":[{"family":"hiatal hernia"},{"family":"stomach hernia"},{"family":"The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal 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pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002043","type":"entry-dictionary","title":"Esophageal stricture"},{"container-title":"HP:0100346","author":[{"family":"Fibular deviation of the 5th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100346","type":"entry-dictionary","title":"Fibular deviation of the 5th toe"},{"container-title":"HP:0002044","author":[{"family":"A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002044","type":"entry-dictionary","title":"Zollinger-Ellison syndrome"},{"container-title":"HP:0100349","author":[{"family":"camptodactyly of the 3rd 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passively."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100359","type":"entry-dictionary","title":"Contracture of the metatarsophalangeal joint of the 5th toe"},{"container-title":"HP:0002055","author":[{"family":"Curved linear dimple below the lower lip"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002055","type":"entry-dictionary","title":"Curved linear dimple below the lower lip"},{"container-title":"HP:0100358","author":[{"family":"The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100358","type":"entry-dictionary","title":"Contracture of the metatarsophalangeal joint of the 4th toe"},{"container-title":"HP:0002056","author":[{"family":"deformity of the area between the eyebrows"},{"family":"glabellar abnormality"},{"family":"malformation of the area between the eyebrows"},{"family":"abnormality of the area between the eyebrows"},{"family":"An abnormality 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The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002058","type":"entry-dictionary","title":"Myopathic facies"},{"container-title":"HP:0100363","author":[{"family":"absent bones of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100363","type":"entry-dictionary","title":"Aplasia of the phalanges of the 4th toe"},{"container-title":"HP:0002059","author":[{"family":"degeneration of cerebrum"},{"family":"supratentorial atrophy"},{"family":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002059","type":"entry-dictionary","title":"Cerebral atrophy"},{"container-title":"HP:0100362","author":[{"family":"absent digital bone of the 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100362","type":"entry-dictionary","title":"Aplasia of the phalanges of the 3rd toe"},{"container-title":"HP:0002060","author":[{"family":"abnormality of the telencephalon"},{"family":"An abnormality of the telencephalon, which is also known as the cerebrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002060","type":"entry-dictionary","title":"Abnormality of the cerebrum"},{"container-title":"HP:0002061","author":[{"family":"Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002061","type":"entry-dictionary","title":"Lower limb spasticity"},{"container-title":"HP:0100364","author":[{"family":"absent little toe bones"},{"family":"absent pinky toe bones"},{"family":"absent pinkie toe bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100364","type":"entry-dictionary","title":"Aplasia of the phalanges of the 5th toe"},{"container-title":"HP:0002062","author":[{"family":"abnormality of the pyramidal tracts"},{"family":"pyramidal tract disease"},{"family":"Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002062","type":"entry-dictionary","title":"Morphological abnormality of the pyramidal tract"},{"container-title":"HP:0100367","author":[{"family":"short 4th toe bone"},{"family":"hypoplastic\/small phalanges of the 4th toe"},{"family":"short phalanx of the fourth toe"},{"family":"Developmental hypoplasia of one or more phalanx of fourth toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100367","type":"entry-dictionary","title":"Short phalanx of the 4th toe"},{"container-title":"HP:0002063","author":[{"family":"muscle rigidity"},{"family":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002063","type":"entry-dictionary","title":"Rigidity"},{"container-title":"HP:0100366","author":[{"family":"hypoplastic\/small phalanges of the 3rd toe"},{"family":"short 3rd toe bone"},{"family":"short phalanx of the third toe"},{"family":"Developmental hypoplasia of the phalanx of third toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100366","type":"entry-dictionary","title":"Short phalanx of the 3rd toe"},{"container-title":"HP:0002064","author":[{"family":"spastic walk"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002064","type":"entry-dictionary","title":"Spastic gait"},{"container-title":"HP:0100369","author":[{"family":"absent\/small outermost 3rd toe bone"},{"family":"absent\/underdeveloped outermost 3rd toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100369","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the distal phalanx of the 3rd toe"},{"container-title":"HP:0100368","author":[{"family":"short little toe bone"},{"family":"short phalanx of the fifth toe"},{"family":"short pinky toe bone"},{"family":"hypoplastic\/small phalanges of the 5th toe"},{"family":"short pinkie toe bone"},{"family":"Developmental hypoplasia of one or more phalanx of little toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100368","type":"entry-dictionary","title":"Short phalanx of the 5th toe"},{"container-title":"HP:0002066","author":[{"family":"ataxia of gait"},{"family":"ataxic gait"},{"family":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002066","type":"entry-dictionary","title":"Gait ataxia"},{"container-title":"HP:0100371","author":[{"family":"absent\/small outermost pinkie toe bone"},{"family":"absent\/small outermost pinky toe bone"},{"family":"absent\/underdeveloped outermost pinky toe bone"},{"family":"absent\/small outermost little toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100371","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the distal phalanx of the 5th toe"},{"container-title":"HP:0002067","author":[{"family":"slow movements"},{"family":"slowness of movements"},{"family":"Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002067","type":"entry-dictionary","title":"Bradykinesia"},{"container-title":"HP:0100370","author":[{"family":"absent\/small outermost bone of 4th toe"},{"family":"absent\/underdeveloped outermost bone of 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100370","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the distal phalanx of the 4th toe"},{"container-title":"HP:0002068","author":[{"family":"Neuromuscular dysphagia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002068","type":"entry-dictionary","title":"Neuromuscular dysphagia"},{"container-title":"HP:0100373","author":[{"family":"absent\/small middle bone of the 4th toe"},{"family":"absent\/underdeveloped middle bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100373","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the middle phalanx of the 4th toe"},{"container-title":"HP:0002069","author":[{"family":"seizures, generalized 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toe"},{"container-title":"HP:0002070","author":[{"family":"appendicular ataxia"},{"family":"A kind of ataxia that affects movements of the extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002070","type":"entry-dictionary","title":"Limb ataxia"},{"container-title":"HP:0100375","author":[{"family":"absent\/underdeveloped innermost bone of 3rd toe"},{"family":"absent\/small innermost bone of 3rd toe"},{"family":"Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100375","type":"entry-dictionary","title":"Aplasia\/hypoplasia of the proximal phalanx of the 3rd toe"},{"container-title":"HP:0002071","author":[{"family":"extrapyramidal tract signs"},{"family":"extrapyramidal dysfunction"},{"family":"extrapyramidal signs"},{"family":"extrapyramidal syndrome"},{"family":"extrapyramidal symptoms"},{"family":"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002071","type":"entry-dictionary","title":"Abnormality of extrapyramidal motor function"},{"container-title":"HP:0100374","author":[{"family":"absent\/underdeveloped middle bone of pinky toe"},{"family":"absent\/small middle 5th toe bone"},{"family":"absent\/underdeveloped middle bone of pinkie toe"},{"family":"absent\/underdeveloped middle bone of little toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100374","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the middle phalanx of the 5th toe"},{"container-title":"HP:0002072","author":[{"family":"choreiform movements"},{"family":"choreatic disease"},{"family":"choreic movements"},{"family":"Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002072","type":"entry-dictionary","title":"Chorea"},{"container-title":"HP:0100377","author":[{"family":"absent\/small innermost pinkie toe bone"},{"family":"absent\/underdeveloped innermost 5th toe bone"},{"family":"absent\/small innermost pinky toe bone"},{"family":"absent\/small innermost little toe bone"},{"family":"Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100377","type":"entry-dictionary","title":"Aplasia\/hypoplasia of the proximal phalanx of the 5th toe"},{"container-title":"HP:0002073","author":[{"family":"cerebellar ataxia, progressive"},{"family":"progressive ataxia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002073","type":"entry-dictionary","title":"Progressive cerebellar ataxia"},{"container-title":"HP:0100376","author":[{"family":"absent\/small innermost 4th toe bone"},{"family":"absent\/underdeveloped innermost 4th toe bone"},{"family":"Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100376","type":"entry-dictionary","title":"Aplasia\/hypoplasia of the proximal phalanx of the 4th toe"},{"container-title":"HP:0002074","author":[{"family":"neuronal lipopigments"},{"family":"Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002074","type":"entry-dictionary","title":"Increased neuronal autofluorescent lipopigment"},{"container-title":"HP:0100379","author":[{"family":"absent outermost bone of the 4th toe"},{"family":"absent distal phalanx of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100379","type":"entry-dictionary","title":"Aplasia of the distal phalanx of the 4th toe"},{"container-title":"HP:0002075","author":[{"family":"dysdiadochokinesia"},{"family":"A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002075","type":"entry-dictionary","title":"Dysdiadochokinesis"},{"container-title":"HP:0100378","author":[{"family":"absent distal phalanx of the third toe"},{"family":"aplasia of the distal phalanx of the 3rd toe"},{"family":"absent outermost bone of the 3rd toe"},{"family":"Developmental aplasia of the distal phalanx of third toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100378","type":"entry-dictionary","title":"Absent distal phalanx of the 3rd toe"},{"container-title":"HP:0002076","author":[{"family":"intermittent migraine headaches"},{"family":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002076","type":"entry-dictionary","title":"Migraine"},{"container-title":"HP:0100381","author":[{"family":"absent middle phalanx of the third toe"},{"family":"aplasia of the middle phalanx of the 3rd toe"},{"family":"absent middle bone of the 3rd toe"},{"family":"Developmental aplasia of the middle phalanx of third toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100381","type":"entry-dictionary","title":"Absent middle phalanx of the 3rd toe"},{"container-title":"HP:0002077","author":[{"family":"A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and\/or loss of vision and\/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and\/or different symptoms occur in succession."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002077","type":"entry-dictionary","title":"Migraine with aura"},{"container-title":"HP:0100380","author":[{"family":"absent outermost bone of the pinky toe"},{"family":"absent outermost bone of the little toe"},{"family":"absent outermost bone of the pinkie toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100380","type":"entry-dictionary","title":"Aplasia of the distal phalanx of the 5th toe"},{"container-title":"HP:0002078","author":[{"family":"trunk ataxia"},{"family":"Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002078","type":"entry-dictionary","title":"Truncal ataxia"},{"container-title":"HP:0100383","author":[{"family":"absent middle bone of pinky toe"},{"family":"absent middle bone of little toe"},{"family":"absent middle bone of pinkie toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100383","type":"entry-dictionary","title":"Aplasia of the middle phalanx of the 5th toe"},{"container-title":"HP:0002079","author":[{"family":"thinning of the corpus callosum"},{"family":"corpus callosum hypoplasia"},{"family":"hypoplasia of corpus callosum"},{"family":"hypoplastic corpus callosum"},{"family":"small corpus callosum"},{"family":"thin corpus callosum"},{"family":"Underdevelopment of the corpus callosum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002079","type":"entry-dictionary","title":"Hypoplasia of the corpus callosum"},{"container-title":"HP:0100382","author":[{"family":"absent middle bone of 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100382","type":"entry-dictionary","title":"Aplasia of the middle phalanx of the 4th toe"},{"container-title":"HP:0002080","author":[{"family":"cerebellar tremor"},{"family":"terminal tremor"},{"family":"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002080","type":"entry-dictionary","title":"Intention tremor"},{"container-title":"HP:0100385","author":[{"family":"absent innermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100385","type":"entry-dictionary","title":"Aplasia of the proximal phalanx of the 4th toe"},{"container-title":"HP:0100384","author":[{"family":"aplasia of the proximal phalanx of the 3rd toe"},{"family":"absent innermost bone of the 3rd toe"},{"family":"Absence of proximal phalanx of third toe, owing to a congenital defect of development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100384","type":"entry-dictionary","title":"Absent proximal phalanx of the 3rd toe"},{"container-title":"HP:0100387","author":[{"family":"absent middle toe bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100387","type":"entry-dictionary","title":"Aplasia of the middle phalanges of the toes"},{"container-title":"HP:0002083","author":[{"family":"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. 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Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002085","type":"entry-dictionary","title":"Occipital encephalocele"},{"container-title":"HP:0100388","author":[{"family":"absent innermost toe bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100388","type":"entry-dictionary","title":"Aplasia of the proximal phalanges of the toes"},{"container-title":"HP:0002086","author":[{"family":"respiratory abnormality"},{"family":"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002086","type":"entry-dictionary","title":"Abnormality of the respiratory system"},{"container-title":"HP:0100391","author":[{"family":"short outermost bone of the pinkie toe"},{"family":"hypoplastic\/small distal phalanx of the 5th toe"},{"family":"short outermost bone of the little toe"},{"family":"short outermost bone of the pinky toe"},{"family":"short distal phalanx of the fifth toe"},{"family":"Developmental hypoplasia of the distal phalanx of little toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100391","type":"entry-dictionary","title":"Short distal phalanx of the 5th toe"},{"container-title":"HP:0002087","author":[{"family":"abnormality of the upper respiratory tract"},{"family":"upper respiratory tract issues"},{"family":"An abnormality of the upper respiratory tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002087","type":"entry-dictionary","title":"Abnormality of the upper respiratory tract"},{"container-title":"HP:0100390","author":[{"family":"hypoplastic\/small distal phalanx of the 4th toe"},{"family":"short distal phalanx of the fourth toe"},{"family":"short outermost bone of the 4th toe"},{"family":"Developmental hypoplasia of the distal phalanx of fourth toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100390","type":"entry-dictionary","title":"Short distal phalanx of the 4th toe"},{"container-title":"HP:0002088","author":[{"family":"lung disease"},{"family":"abnormality of the lungs"},{"family":"abnormality of lung morphology"},{"family":"unusal lung shape"},{"family":"abnormally shaped lung"},{"family":"Any structural anomaly of the lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002088","type":"entry-dictionary","title":"Abnormal lung morphology"},{"container-title":"HP:0100393","author":[{"family":"hypoplastic\/small middle phalanx of the 4th toe"},{"family":"short middle phalanx of the fourth toe"},{"family":"short middle bone of 4th toe"},{"family":"Developmental hypoplasia of the middle phalanx of fourth toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100393","type":"entry-dictionary","title":"Short middle phalanx of the 4th toe"},{"container-title":"HP:0002089","author":[{"family":"hypoplastic lungs"},{"family":"underdeveloped lung"},{"family":"lung hypoplasia"},{"family":"small lung"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002089","type":"entry-dictionary","title":"Pulmonary hypoplasia"},{"container-title":"HP:0100392","author":[{"family":"short middle phalanx of the third toe"},{"family":"hypoplastic\/small middle phalanx of the 3rd toe"},{"family":"Developmental hypoplasia of the middle phalanx of third toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100392","type":"entry-dictionary","title":"Short middle phalanx of the 3rd toe"},{"container-title":"HP:0002090","author":[{"family":"pneumonia"},{"family":"Inflammation of any part of the lung parenchyma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002090","type":"entry-dictionary","title":"Pneumonia"},{"container-title":"HP:0100395","author":[{"family":"hypoplastic\/small proximal phalanx of the 3rd toe"},{"family":"short proximal phalanx of the third toe"},{"family":"Abnormal reduction in length of proximal phalanx of third toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100395","type":"entry-dictionary","title":"Short proximal phalanx of the 3rd toe"},{"container-title":"HP:0002091","author":[{"family":"restrictive lung disease"},{"family":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. 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The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002098","type":"entry-dictionary","title":"Respiratory distress"},{"container-title":"HP:0100403","author":[{"family":"partial\/complete duplication of the middle phalanx of the 5th toe"},{"family":"duplication of the middle phalanx of the fifth toe"},{"family":"duplication of the middle bone of the pinkie toe"},{"family":"duplication of the middle bone of the pinky toe"},{"family":"duplication of the middle bone of the little toe"},{"family":"Partial or complete duplication of the middle phalanx of the 5th toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100403","type":"entry-dictionary","title":"Duplication of the middle phalanx of the 5th toe"},{"container-title":"HP:0002099","author":[{"family":"bronchial asthma"},{"family":"reactive airway 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toe"},{"container-title":"HP:0002103","author":[{"family":"An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002103","type":"entry-dictionary","title":"Abnormality of the pleura"},{"container-title":"HP:0100406","author":[{"family":"partial\/complete duplication of the proximal phalanx of the 5th toe"},{"family":"duplication of the proximal phalanx of the fifth toe"},{"family":"duplication of the innermost bone of the little toe"},{"family":"duplication of the innermost bone of the pinky toe"},{"family":"duplication of the innermost bone of the pinkie toe"},{"family":"Partial or complete duplication of the proximal phalanx of fifth toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100406","type":"entry-dictionary","title":"Duplication of the proximal phalanx of the 5th toe"},{"container-title":"HP:0002104","author":[{"family":"absence of spontaneous 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This term refers to a disposition to have recurrent episodes of apnea rather than to a single event."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002104","type":"entry-dictionary","title":"Apnea"},{"container-title":"HP:0100409","author":[{"family":"complete duplication of the distal phalanx of the fifth toe"},{"family":"complete duplication of the outermost bone of the little toe"},{"family":"complete duplication of the outermost bone of the pinkie toe"},{"family":"complete duplication of the outermost bone of the pinky toe"},{"family":"Complete duplication of the distal phalanx of little toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100409","type":"entry-dictionary","title":"Complete duplication of the distal phalanx of the 5th toe"},{"container-title":"HP:0002105","author":[{"family":"coughing up blood or blood-stained mucus"},{"family":"haemoptysis"},{"family":"Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002105","type":"entry-dictionary","title":"Hemoptysis"},{"container-title":"HP:0100408","author":[{"family":"complete duplication of the outermost bone of the 4th toe"},{"family":"complete duplication of the distal phalanx of the fourth toe"},{"family":"Complete duplication of the distal phalanx of fourth toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100408","type":"entry-dictionary","title":"Complete duplication of the distal phalanx of the 4th toe"},{"container-title":"HP:0100411","author":[{"family":"complete duplication of the middle phalanx of the fourth toe"},{"family":"complete duplication of the middle bone of the 4th toe"},{"family":"Complete duplication of middle phalanx of fourth toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100411","type":"entry-dictionary","title":"Complete duplication of the middle phalanx of the 4th toe"},{"container-title":"HP:0002107","author":[{"family":"collapsed 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This can take on many forms depending on severity and distribution as can be seen on x-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100466","type":"entry-dictionary","title":"Patchy sclerosis of the proximal phalanx of the 5th toe"},{"container-title":"HP:0002164","author":[{"family":"onychodysplasia"},{"family":"dysplastic nails"},{"family":"The presence of developmental dysplasia of the nail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002164","type":"entry-dictionary","title":"Nail dysplasia"},{"container-title":"HP:0100469","author":[{"family":"uneven increase in bone density in the outermost pinky toe bone"},{"family":"uneven increase in bone density in the outermost little toe bone"},{"family":"uneven increase in bone density in the outermost pinkie toe bone"},{"family":"Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100469","type":"entry-dictionary","title":"Patchy sclerosis of the distal phalanx of the 5th toe"},{"container-title":"HP:0002165","author":[{"family":"Inward advance of skin over the nail plate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002165","type":"entry-dictionary","title":"Pterygium of nails"},{"container-title":"HP:0100468","author":[{"family":"uneven increase in bone density in the outermost bone of the 4th toe"},{"family":"Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100468","type":"entry-dictionary","title":"Patchy sclerosis of the distal phalanx of the 4th toe"},{"container-title":"HP:0002166","author":[{"family":"impaired vibration sensation in the lower limbs"},{"family":"diminished vibratory sensation in the legs"},{"family":"decreased vibratory sense in lower limbs"},{"family":"decreased lower limb vibratory sense"},{"family":"distal sensory loss, especially vibratory sense"},{"family":"decreased vibratory sense in the lower extremities"},{"family":"decreased vibratory sense in the lower limbs"},{"family":"distal vibratory impairment of the lower limbs"},{"family":"A decrease in the ability to perceive vibration in the legs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002166","type":"entry-dictionary","title":"Impaired vibration sensation in the lower limbs"},{"container-title":"HP:0100471","author":[{"family":"fused middle bones of 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100471","type":"entry-dictionary","title":"Symphalangism affecting the middle phalanx of the 4th toe"},{"container-title":"HP:0002167","author":[{"family":"speech impediment"},{"family":"speech disorder"},{"family":"speech impairment"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002167","type":"entry-dictionary","title":"Neurological speech impairment"},{"container-title":"HP:0100470","author":[{"family":"fused middle bones of 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100470","type":"entry-dictionary","title":"Symphalangism affecting the middle phalanx of the 3rd toe"},{"container-title":"HP:0002168","author":[{"family":"explosive speech"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002168","type":"entry-dictionary","title":"Scanning speech"},{"container-title":"HP:0100473","author":[{"family":"fused innermost bone of 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100473","type":"entry-dictionary","title":"Symphalangism affecting the proximal phalanx of the 3rd toe"},{"container-title":"HP:0002169","author":[{"family":"A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002169","type":"entry-dictionary","title":"Clonus"},{"container-title":"HP:0100472","author":[{"family":"fused middle bones of 5th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100472","type":"entry-dictionary","title":"Symphalangism affecting the middle phalanx of the 5th toe"},{"container-title":"HP:0002170","author":[{"family":"bleeding within the skull"},{"family":"Hemorrhage occurring within the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002170","type":"entry-dictionary","title":"Intracranial hemorrhage"},{"container-title":"HP:0100475","author":[{"family":"fused innermost bone of little toe"},{"family":"fused innermost bone of pinkie toe"},{"family":"fused innermost bone of pinky toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100475","type":"entry-dictionary","title":"Symphalangism affecting the proximal phalanx of the 5th toe"},{"container-title":"HP:0002171","author":[{"family":"cerebral gliosis"},{"family":"Gliosis is the focal proliferation of glial cells in the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002171","type":"entry-dictionary","title":"Gliosis"},{"container-title":"HP:0100474","author":[{"family":"fused innermost bones of 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100474","type":"entry-dictionary","title":"Symphalangism affecting the proximal phalanx of the 4th toe"},{"container-title":"HP:0002172","author":[{"family":"imbalance"},{"family":"abnormal retropulsion test"},{"family":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002172","type":"entry-dictionary","title":"Postural instability"},{"container-title":"HP:0100477","author":[{"family":"fused outermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100477","type":"entry-dictionary","title":"Symphalangism affecting the distal phalanx of the 4th toe"},{"container-title":"HP:0002173","author":[{"family":"Hypoglycemic seizures"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002173","type":"entry-dictionary","title":"Hypoglycemic seizures"},{"container-title":"HP:0100476","author":[{"family":"fused outermost bone of 3rd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100476","type":"entry-dictionary","title":"Symphalangism affecting the distal phalanx of the 3rd toe"},{"container-title":"HP:0002174","author":[{"family":"tremor, postural"},{"family":"A type of tremors that is triggered by holding a limb in a fixed position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002174","type":"entry-dictionary","title":"Postural tremor"},{"container-title":"HP:0100478","author":[{"family":"fused outermost bones of the pinky toe"},{"family":"fused outermost bones of the pinkie toe"},{"family":"fused outermost bones of the little toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100478","type":"entry-dictionary","title":"Symphalangism affecting the distal phalanx of the 5th toe"},{"container-title":"HP:0002176","author":[{"family":"External mechanical compression of the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002176","type":"entry-dictionary","title":"Spinal cord compression"},{"container-title":"HP:0100481","author":[{"family":"fused innermost and middle bones of 4th toe"},{"family":"symphalangism of the middle and proximal phalanges of the 4th toe"},{"family":"Bony fusion of the middle and proximal phalanges of the 4th toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100481","type":"entry-dictionary","title":"Proximal\/middle symphalangism of 4th toe"},{"container-title":"HP:0100480","author":[{"family":"symphalangism of the middle and proximal phalanges of the 3rd toe"},{"family":"fused innermost and middle bones of 3rd toe"},{"family":"Bony fusion of the middle and proximal phalanges of the 3rd toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100480","type":"entry-dictionary","title":"Proximal\/middle symphalangism of 3rd toe"},{"container-title":"HP:0100483","author":[{"family":"fused innermost bone of 2nd toe with the 2nd long bone of foot"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100483","type":"entry-dictionary","title":"Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal"},{"container-title":"HP:0002179","author":[{"family":"opisthotonos"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002179","type":"entry-dictionary","title":"Opisthotonus"},{"container-title":"HP:0100482","author":[{"family":"fused innermost and middle little toe bones"},{"family":"fused innermost and middle pinkie toe bones"},{"family":"fused innermost and middle pinky toe bones"},{"family":"symphalangism of the middle and proximal phalanges of the 5th toe"},{"family":"Bony fusion of the middle and proximal phalanges of the 5th toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100482","type":"entry-dictionary","title":"Proximal\/middle symphalangism of 5th toe"},{"container-title":"HP:0002180","author":[{"family":"neuro-degenerative disease"},{"family":"neurodegenerative disease"},{"family":"progressive neurodegenerative disorder"},{"family":"Progressive loss of neural cells and tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002180","type":"entry-dictionary","title":"Neurodegeneration"},{"container-title":"HP:0100485","author":[{"family":"fused innermost bone of the 4th toe with 4th long bone of foot"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100485","type":"entry-dictionary","title":"Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal"},{"container-title":"HP:0002181","author":[{"family":"brain edema"},{"family":"brain oedema"},{"family":"brain swelling"},{"family":"Abnormal accumulation of fluid in the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002181","type":"entry-dictionary","title":"Cerebral edema"},{"container-title":"HP:0100484","author":[{"family":"fused innermost bones of third toe with 3rd long bone of foot"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100484","type":"entry-dictionary","title":"Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal"},{"container-title":"HP:0100487","author":[{"family":"triangular shaped outermost bone of the pinky toe"},{"family":"triangular shaped outermost bone of the pinkie toe"},{"family":"triangular shaped outermost bone of the little toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100487","type":"entry-dictionary","title":"Triangular shaped distal phalanx of the 5th toe"},{"container-title":"HP:0002183","author":[{"family":"fear of loud sounds"},{"family":"An abnormally heightened sensitivity to loud sounds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002183","type":"entry-dictionary","title":"Phonophobia"},{"container-title":"HP:0100486","author":[{"family":"fused innermost pinky toe bone with the 5th long bone of foot"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100486","type":"entry-dictionary","title":"Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal"},{"container-title":"HP:0100489","author":[{"family":"symphalangism of the middle and proximal phalanges of the 2nd toe"},{"family":"fused middle and innermost bones of 2nd toe"},{"family":"Bony fusion of the middle and proximal phalanges of the 2nd toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100489","type":"entry-dictionary","title":"Proximal\/middle symphalangism of 2nd toe"},{"container-title":"HP:0002185","author":[{"family":"paired helical filaments"},{"family":"neurofibrillary tangles composed of disordered microtubules in neurons"},{"family":"Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002185","type":"entry-dictionary","title":"Neurofibrillary tangles"},{"container-title":"HP:0100488","author":[{"family":"fusion of the innermost big toe bone with the 1st long bone of foot"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100488","type":"entry-dictionary","title":"Synostosis of the proximal phalanx of the hallux with the 1st metatarsal"},{"container-title":"HP:0002186","author":[{"family":"apraxias"},{"family":"A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002186","type":"entry-dictionary","title":"Apraxia"},{"container-title":"HP:0100491","author":[{"family":"abnormality of lower limb joint"},{"family":"abnormality of the joints of the lower limbs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100491","type":"entry-dictionary","title":"Abnormality of lower limb joint"},{"container-title":"HP:0002187","author":[{"family":"mental retardation, profound"},{"family":"profound mental retardation"},{"family":"Profound mental retardation is defined as an intelligence quotient (IQ) below 20."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002187","type":"entry-dictionary","title":"Intellectual disability, profound"},{"container-title":"HP:0100490","author":[{"family":"camptodactyly of proximal interphalangeal joint"},{"family":"proximal interphalangeal finger joint contractures"},{"family":"camptodactyly of hands"},{"family":"flexion contractures of proximal interphalangeal joints"},{"family":"contractures of the proximal interphalangeal joints of the fingers"},{"family":"The distal interphalangeal joint and\/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100490","type":"entry-dictionary","title":"Camptodactyly of finger"},{"container-title":"HP:0002188","author":[{"family":"delay in central nervous system myelination"},{"family":"Delayed myelination in the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002188","type":"entry-dictionary","title":"Delayed CNS myelination"},{"container-title":"HP:0100493","author":[{"family":"A decreased concentration of ammonia in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100493","type":"entry-dictionary","title":"Hypoammonemia"},{"container-title":"HP:0002189","author":[{"family":"excessive daytime sleepiness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002189","type":"entry-dictionary","title":"Excessive daytime sleepiness"},{"container-title":"HP:0100492","author":[{"family":"Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100492","type":"entry-dictionary","title":"Joint contractures involving the joints of the feet"},{"container-title":"HP:0002190","author":[{"family":"A cyst occurring within the choroid plexus within a cerebral ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002190","type":"entry-dictionary","title":"Choroid plexus cyst"},{"container-title":"HP:0100495","author":[{"family":"The presence of an increased number of mast cells and CD34+ mast cell precursors in the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100495","type":"entry-dictionary","title":"Mastocytosis"},{"container-title":"HP:0002191","author":[{"family":"spasticity, progressive"},{"family":"Spasticity that increases in degree with time."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002191","type":"entry-dictionary","title":"Progressive spasticity"},{"container-title":"HP:0100494","author":[{"family":"abnormality of mastocytes"},{"family":"abnormality of mast cells"},{"family":"Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100494","type":"entry-dictionary","title":"Abnormal mast cell morphology"},{"container-title":"HP:0100497","author":[{"family":"vitamin b3 deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100497","type":"entry-dictionary","title":"Vitamin B3 deficiency"},{"container-title":"HP:0002193","author":[{"family":"Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002193","type":"entry-dictionary","title":"Pseudobulbar behavioral symptoms"},{"container-title":"HP:0100496","author":[{"family":"abnormality of the vitamin b3 metabolism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100496","type":"entry-dictionary","title":"Abnormality of the vitamin B3 metabolism"},{"container-title":"HP:0002194","author":[{"family":"limited gross motor development"},{"family":"delayed motor skills"},{"family":"delayed gross motor skills"},{"family":"developmental delay, gross motor"},{"family":"gross motor delay"},{"family":"A type of motor delay characterized by an delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002194","type":"entry-dictionary","title":"Delayed gross motor development"},{"container-title":"HP:0100499","author":[{"family":"medial deviation of toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100499","type":"entry-dictionary","title":"Tibial deviation of toes"},{"container-title":"HP:0002195","author":[{"family":"Defective development of the vermis of cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002195","type":"entry-dictionary","title":"Dysgenesis of the cerebellar vermis"},{"container-title":"HP:0100498","author":[{"family":"Deviation of toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100498","type":"entry-dictionary","title":"Deviation of toes"},{"container-title":"HP:0002196","author":[{"family":"Myelopathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002196","type":"entry-dictionary","title":"Myelopathy"},{"container-title":"HP:0100501","author":[{"family":"An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100501","type":"entry-dictionary","title":"Recurrent bronchiolitis"},{"container-title":"HP:0002197","author":[{"family":"infrequent generalized seizures"},{"family":"Seizures of with initial involvement of both cerebral hemispheres."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002197","type":"entry-dictionary","title":"Generalized seizures"},{"container-title":"HP:0100500","author":[{"family":"lateral deviation of toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100500","type":"entry-dictionary","title":"Fibular deviation of toes"},{"container-title":"HP:0002198","author":[{"family":"enlarged fourth ventricle"},{"family":"An abnormal dilatation of the fourth cerebral ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002198","type":"entry-dictionary","title":"Dilated fourth ventricle"},{"container-title":"HP:0100503","author":[{"family":"reduced blood thiamine level"},{"family":"vitamin b1 deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100503","type":"entry-dictionary","title":"Vitamin B1 deficiency"},{"container-title":"HP:0002199","author":[{"family":"seizures due to hypocalcemia"},{"family":"low calcium seizures"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002199","type":"entry-dictionary","title":"Hypocalcemic seizures"},{"container-title":"HP:0100502","author":[{"family":"vitamin b12 deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100502","type":"entry-dictionary","title":"Vitamin B12 deficiency"},{"container-title":"HP:0002200","author":[{"family":"pseudobulbar symptoms"},{"family":"Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002200","type":"entry-dictionary","title":"Pseudobulbar signs"},{"container-title":"HP:0100505","author":[{"family":"vitamin b5 deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100505","type":"entry-dictionary","title":"Vitamin B5 deficiency"},{"container-title":"HP:0100504","author":[{"family":"riboflavin deficiency"},{"family":"vitamin b2 deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100504","type":"entry-dictionary","title":"Vitamin B2 deficiency"},{"container-title":"HP:0002202","author":[{"family":"The presence of an excessive amount of fluid in the pleural cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002202","type":"entry-dictionary","title":"Pleural effusion"},{"container-title":"HP:0100507","author":[{"family":"folate deficiency"},{"family":"vitamin b9 deficiency"},{"family":"A reduced concentration of folic acid, which is also known as vitamin B9."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100507","type":"entry-dictionary","title":"Folate deficiency"},{"container-title":"HP:0002203","author":[{"family":"Inability to move the muscles of respiration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002203","type":"entry-dictionary","title":"Respiratory paralysis"},{"container-title":"HP:0100506","author":[{"family":"vitamin b8 deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100506","type":"entry-dictionary","title":"Vitamin B8 deficiency"},{"container-title":"HP:0002204","author":[{"family":"An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002204","type":"entry-dictionary","title":"Pulmonary embolism"},{"container-title":"HP:0100509","author":[{"family":"abnormality of vitamin c metabolism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100509","type":"entry-dictionary","title":"Abnormality of vitamin C metabolism"},{"container-title":"HP:0002205","author":[{"family":"frequent respiratory infections"},{"family":"multiple respiratory infections"},{"family":"respiratory infections, recurrent"},{"family":"recurrent respiratory infections"},{"family":"susceptibility to respiratory infections"},{"family":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002205","type":"entry-dictionary","title":"Recurrent respiratory infections"},{"container-title":"HP:0100508","author":[{"family":"abnormality of vitamin metabolism"},{"family":"An anomaly in the metabolism of a vitamin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100508","type":"entry-dictionary","title":"Abnormality of vitamin metabolism"},{"container-title":"HP:0002206","author":[{"family":"Replacement of normal lung tissues by fibroblasts and collagen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002206","type":"entry-dictionary","title":"Pulmonary fibrosis"},{"container-title":"HP:0100511","author":[{"family":"abnormality of vitamin d metabolism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100511","type":"entry-dictionary","title":"Abnormality of vitamin D metabolism"},{"container-title":"HP:0002207","author":[{"family":"Diffuse reticular or finely nodular infiltrations"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002207","type":"entry-dictionary","title":"Diffuse reticular or finely nodular infiltrations"},{"container-title":"HP:0100510","author":[{"family":"vitamin c deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100510","type":"entry-dictionary","title":"Vitamin C deficiency"},{"container-title":"HP:0002208","author":[{"family":"coarse hair texture"},{"family":"rough hair texture"},{"family":"Hair shafts are rough in texture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002208","type":"entry-dictionary","title":"Coarse hair"},{"container-title":"HP:0100513","author":[{"family":"vitamin e deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100513","type":"entry-dictionary","title":"Vitamin E deficiency"},{"container-title":"HP:0002209","author":[{"family":"sparse scalp hair"},{"family":"sparse-absent scalp hair"},{"family":"scalp hair, thinning"},{"family":"sparse, thin scalp hair"},{"family":"Decreased number of head hairs per unit area."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002209","type":"entry-dictionary","title":"Sparse scalp hair"},{"container-title":"HP:0100512","author":[{"family":"vitamin d deficiency"},{"family":"deficient in vitamin d"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100512","type":"entry-dictionary","title":"Vitamin D deficiency"},{"container-title":"HP:0100515","author":[{"family":"constant urination"},{"family":"frequent urination"},{"family":"Increased frequency of urination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100515","type":"entry-dictionary","title":"Pollakisuria"},{"container-title":"HP:0002211","author":[{"family":"poliosis of anterior hair"},{"family":"poliosis of forelock hair"},{"family":"A triangular depigmented region of white hairs located in the anterior midline of the scalp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002211","type":"entry-dictionary","title":"White forelock"},{"container-title":"HP:0100514","author":[{"family":"abnormality of vitamin e metabolism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100514","type":"entry-dictionary","title":"Abnormality of vitamin E metabolism"},{"container-title":"HP:0002212","author":[{"family":"curly hair"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002212","type":"entry-dictionary","title":"Curly hair"},{"container-title":"HP:0100517","author":[{"family":"neoplasia of the urethra"},{"family":"The presence of a neoplasm of the urethra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100517","type":"entry-dictionary","title":"Neoplasm of the urethra"},{"container-title":"HP:0002213","author":[{"family":"fine hair shaft"},{"family":"thin hair texture"},{"family":"thinned hair"},{"family":"thin hair shaft"},{"family":"fine hair texture"},{"family":"Hair that is fine or thin to the touch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002213","type":"entry-dictionary","title":"Fine hair"},{"container-title":"HP:0100516","author":[{"family":"ureter, cancer of"},{"family":"neoplasia of the ureters"},{"family":"The presence of a neoplasm of the ureter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100516","type":"entry-dictionary","title":"Neoplasm of the ureter"},{"container-title":"HP:0100519","author":[{"family":"absent urine output"},{"family":"Absence of urine, clinically classified as below 50ml\/day."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100519","type":"entry-dictionary","title":"Anuria"},{"container-title":"HP:0002215","author":[{"family":"sparse to absent axillary hair"},{"family":"sparse axillary and pubic hair"},{"family":"sparse scalp, axillary, and pubic hair"},{"family":"little underarm hair"},{"family":"Reduced number or density of axillary hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002215","type":"entry-dictionary","title":"Sparse axillary hair"},{"container-title":"HP:0100518","author":[{"family":"dull burning sensation with 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facial hair growth"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002219","type":"entry-dictionary","title":"Facial hypertrichosis"},{"container-title":"HP:0100522","author":[{"family":"A tumor originating from the epithelial cells of the thymus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100522","type":"entry-dictionary","title":"Thymoma"},{"container-title":"HP:0002220","author":[{"family":"Melanin pigment aggregation in hair shafts"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002220","type":"entry-dictionary","title":"Melanin pigment aggregation in hair shafts"},{"container-title":"HP:0100525","author":[{"family":"Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100525","type":"entry-dictionary","title":"Urachus fistula"},{"container-title":"HP:0002221","author":[{"family":"Absence of axillary hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002221","type":"entry-dictionary","title":"Absent axillary hair"},{"container-title":"HP:0100524","author":[{"family":"limb duplication"},{"family":"dimelia"},{"family":"Congenital duplication of all or part of a limb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100524","type":"entry-dictionary","title":"Limb duplication"},{"container-title":"HP:0100527","author":[{"family":"Neoplasia of the pleura"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100527","type":"entry-dictionary","title":"Neoplasia of the pleura"},{"container-title":"HP:0002223","author":[{"family":"aplasia of eyebrows"},{"family":"absent eyebrows"},{"family":"loss of eyebrows"},{"family":"missing eyebrows"},{"family":"failure of development of eyebrows"},{"family":"agenesis of eyebrows"},{"family":"Absence of the eyebrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002223","type":"entry-dictionary","title":"Absent eyebrow"},{"container-title":"HP:0100526","author":[{"family":"lung cancer"},{"family":"lung tumor"},{"family":"Tumor of the lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100526","type":"entry-dictionary","title":"Neoplasm of the lung"},{"container-title":"HP:0002224","author":[{"family":"kinky hair texture"},{"family":"nappy hair texture"},{"family":"afro-textured hair"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002224","type":"entry-dictionary","title":"Woolly hair"},{"container-title":"HP:0100529","author":[{"family":"An abnormality of phosphate homeostasis or concentration in the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100529","type":"entry-dictionary","title":"Abnormality of phosphate homeostasis"},{"container-title":"HP:0002225","author":[{"family":"sparse to absent pubic hair"},{"family":"sparse pubic hair"},{"family":"decreased sexual hair"},{"family":"Reduced number or density of pubic hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002225","type":"entry-dictionary","title":"Sparse pubic hair"},{"container-title":"HP:0100528","author":[{"family":"A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100528","type":"entry-dictionary","title":"Pleuropulmonary blastoma"},{"container-title":"HP:0002226","author":[{"family":"depigmented eyebrow"},{"family":"white eyebrow"},{"family":"hypopigmented eyebrow"},{"family":"pale eyebrow"},{"family":"grey eyebrow"},{"family":"blonde eyebrow"},{"family":"White color (lack of pigmentation) of the eyebrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002226","type":"entry-dictionary","title":"White eyebrow"},{"container-title":"HP:0100531","author":[{"family":"wind-swept deformity of the knees"},{"family":"The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100531","type":"entry-dictionary","title":"Wind-swept deformity of the knees"},{"container-title":"HP:0002227","author":[{"family":"pale eyelashes"},{"family":"depigmented 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hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002229","type":"entry-dictionary","title":"Alopecia areata"},{"container-title":"HP:0100532","author":[{"family":"inflammation of the outer white part of the eye"},{"family":"Inflammation of the sclera."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100532","type":"entry-dictionary","title":"Scleritis"},{"container-title":"HP:0002230","author":[{"family":"Abnormally increased hair growth over much of the entire body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002230","type":"entry-dictionary","title":"Generalized hirsutism"},{"container-title":"HP:0100535","author":[{"family":"Tibiofibular diastasis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100535","type":"entry-dictionary","title":"Tibiofibular diastasis"},{"container-title":"HP:0002231","author":[{"family":"sparse body hair"},{"family":"Sparseness of the body hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002231","type":"entry-dictionary","title":"Sparse body hair"},{"container-title":"HP:0100534","author":[{"family":"Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100534","type":"entry-dictionary","title":"Episcleritis"},{"container-title":"HP:0002232","author":[{"family":"Patchy alopecia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002232","type":"entry-dictionary","title":"Patchy alopecia"},{"container-title":"HP:0100537","author":[{"family":"inflammation of the fascia"},{"family":"Inflammation of fascia, the tissue under the skin and over the muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100537","type":"entry-dictionary","title":"Fasciitis"},{"container-title":"HP:0100536","author":[{"family":"An abnormality of fascia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100536","type":"entry-dictionary","title":"Abnormality of the fascia"},{"container-title":"HP:0002234","author":[{"family":"early balding"},{"family":"Loss of scalp hair at an earlier than normal age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002234","type":"entry-dictionary","title":"Early balding"},{"container-title":"HP:0100539","author":[{"family":"periorbital cellulitis"},{"family":"puffiness around the eyes"},{"family":"periorbital swelling"},{"family":"puffy eyes"},{"family":"swelling around the eyes"},{"family":"Edema affecting the region situated around the orbit of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100539","type":"entry-dictionary","title":"Periorbital edema"},{"container-title":"HP:0002235","author":[{"family":"Uncombable hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002235","type":"entry-dictionary","title":"Pili canaliculi"},{"container-title":"HP:0100538","author":[{"family":"deformity of the supraorbital ridges"},{"family":"malformation of the supraorbital margins"},{"family":"deformity of the supraorbital margins"},{"family":"malformation of the supraorbital ridges"},{"family":"abnormality 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eyelids"},{"family":"fullness of eyelids"},{"family":"puffy lids"},{"family":"puffy eyelids"},{"family":"edema of the eyelids"},{"family":"eyelid edema"},{"family":"Edema in the region of the eyelids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100540","type":"entry-dictionary","title":"Palpebral edema"},{"container-title":"HP:0100543","author":[{"family":"cognitive deficits"},{"family":"cognitive abnormality"},{"family":"abnormality of cognition"},{"family":"cognitive impairment"},{"family":"intellectual impairment"},{"family":"mental impairment"},{"family":"cognitive defects"},{"family":"Abnormality in the process of thought including the ability to process information."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100543","type":"entry-dictionary","title":"Cognitive impairment"},{"container-title":"HP:0002239","author":[{"family":"gi hemorrhage"},{"family":"gi haemorrhage"},{"family":"gastrointestinal bleeding"},{"family":"Hemorrhage affecting the gastrointestinal 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The closely related term enteropathy is used to refer to any disease of the intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002242","type":"entry-dictionary","title":"Abnormal intestine morphology"},{"container-title":"HP:0100547","author":[{"family":"abnormal shape of forebrain"},{"family":"abnormality of the forebrain"},{"family":"An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100547","type":"entry-dictionary","title":"Abnormality of forebrain morphology"},{"container-title":"HP:0002243","author":[{"family":"Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002243","type":"entry-dictionary","title":"Protein-losing enteropathy"},{"container-title":"HP:0100546","author":[{"family":"carotid stenosis"},{"family":"narrowing of carotid artery"},{"family":"Narrowing of the carotid arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100546","type":"entry-dictionary","title":"Carotid artery stenosis"},{"container-title":"HP:0002244","author":[{"family":"An abnormality of the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002244","type":"entry-dictionary","title":"Abnormality of the small intestine"},{"container-title":"HP:0002245","author":[{"family":"Meckel's diverticulum is a congenital diverticulum located in the distal ileum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002245","type":"entry-dictionary","title":"Meckel diverticulum"},{"container-title":"HP:0100548","author":[{"family":"Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100548","type":"entry-dictionary","title":"Exstrophy"},{"container-title":"HP:0002246","author":[{"family":"An abnormality of the duodenum, i.e., the first section of the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002246","type":"entry-dictionary","title":"Abnormality of the duodenum"},{"container-title":"HP:0100551","author":[{"family":"tracheal neoplasm"},{"family":"A neoplasm of the trachea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100551","type":"entry-dictionary","title":"Neoplasm of the trachea"},{"container-title":"HP:0002247","author":[{"family":"A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002247","type":"entry-dictionary","title":"Duodenal atresia"},{"container-title":"HP:0100550","author":[{"family":"rupture of tendons"},{"family":"tendon rupture"},{"family":"ruptured tendon"},{"family":"Breakage (tear) of a tendon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100550","type":"entry-dictionary","title":"Tendon rupture"},{"container-title":"HP:0002248","author":[{"family":"vomitting blood"},{"family":"The vomiting of blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002248","type":"entry-dictionary","title":"Hematemesis"},{"container-title":"HP:0100553","author":[{"family":"overgrowth of one leg"},{"family":"Overgrowth of only one leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100553","type":"entry-dictionary","title":"Hemihypertrophy of lower limb"},{"container-title":"HP:0002249","author":[{"family":"black feces"},{"family":"The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002249","type":"entry-dictionary","title":"Melena"},{"container-title":"HP:0100552","author":[{"family":"Neoplasm of the tracheobronchial system"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100552","type":"entry-dictionary","title":"Neoplasm of the tracheobronchial system"},{"container-title":"HP:0002250","author":[{"family":"abnormality of the large intestine"},{"family":"Any abnormality of the large intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002250","type":"entry-dictionary","title":"Abnormality of the large intestine"},{"container-title":"HP:0100555","author":[{"family":"A growth pattern that displays an abnormal difference between the left and the right side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100555","type":"entry-dictionary","title":"Asymmetric growth"},{"container-title":"HP:0002251","author":[{"family":"hirschsprung disease"},{"family":"congenital megacolon"},{"family":"hirschsprung megacolon"},{"family":"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002251","type":"entry-dictionary","title":"Aganglionic megacolon"},{"container-title":"HP:0100554","author":[{"family":"overgrowth of one arm"},{"family":"Overgrowth of only one arm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100554","type":"entry-dictionary","title":"Hemihypertrophy of upper limb"},{"container-title":"HP:0100557","author":[{"family":"asymmetric lower limb shortening"},{"family":"Unilateral atrophy (reduction in size) of a leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100557","type":"entry-dictionary","title":"Hemiatrophy of lower limb"},{"container-title":"HP:0002253","author":[{"family":"colon diverticula"},{"family":"colonic diverticulosis"},{"family":"The presence of multiple diverticula of the colon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002253","type":"entry-dictionary","title":"Colonic diverticula"},{"container-title":"HP:0100556","author":[{"family":"asymmetric limb shortening"},{"family":"hemiatrophy of the body"},{"family":"Undergrowth of the limbs that affects only one side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100556","type":"entry-dictionary","title":"Hemiatrophy"},{"container-title":"HP:0002254","author":[{"family":"Intermittent diarrhea"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002254","type":"entry-dictionary","title":"Intermittent diarrhea"},{"container-title":"HP:0100559","author":[{"family":"leg length discrepancy"},{"family":"A difference in length or diameter between the left and right leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100559","type":"entry-dictionary","title":"Lower limb asymmetry"},{"container-title":"HP:0100558","author":[{"family":"hemihypotrophy of upper limb"},{"family":"asymmetric upper limb shortening"},{"family":"Unilateral atrophy (reduction in size) of an arm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100558","type":"entry-dictionary","title":"Hemiatrophy of upper limb"},{"container-title":"HP:0002256","author":[{"family":"Small bowel diverticula"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002256","type":"entry-dictionary","title":"Small bowel diverticula"},{"container-title":"HP:0100561","author":[{"family":"Spinal cord lesion"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100561","type":"entry-dictionary","title":"Spinal cord lesion"},{"container-title":"HP:0002257","author":[{"family":"Chronic inflammation of the nasal mucosa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002257","type":"entry-dictionary","title":"Chronic rhinitis"},{"container-title":"HP:0100560","author":[{"family":"Difference in length or size between the right and left arm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100560","type":"entry-dictionary","title":"Upper limb asymmetry"},{"container-title":"HP:0100563","author":[{"family":"Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100563","type":"entry-dictionary","title":"Diastomatomyelia"},{"container-title":"HP:0100562","author":[{"family":"duplication of spinal cord"},{"family":"Duplication of the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100562","type":"entry-dictionary","title":"Diplomyelia"},{"container-title":"HP:0100565","author":[{"family":"Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100565","type":"entry-dictionary","title":"Hydromyelia"},{"container-title":"HP:0100564","author":[{"family":"triplication of spinal cord"},{"family":"Triplication of the spinal cord - extremely rare."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100564","type":"entry-dictionary","title":"Triplomyelia"},{"container-title":"HP:0002263","author":[{"family":"cupid's bow, accentuated"},{"family":"prominent cupid-bow of upper lip"},{"family":"cupid-bow shaped upper lip"},{"family":"exaggerated cupid's bow"},{"family":"cupid bow upper lip"},{"family":"More pronounced paramedian peaks and median notch of the Cupid's bow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002263","type":"entry-dictionary","title":"Exaggerated cupid's bow"},{"container-title":"HP:0100566","author":[{"family":"absent spinal cord"},{"family":"Congenital absence of the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100566","type":"entry-dictionary","title":"Amyelia"},{"container-title":"HP:0100569","author":[{"family":"abnormal bone maturation of vertebra"},{"family":"abnormality of ossification\/mineralisation of vertebrae"},{"family":"An abnormality of the formation and mineralization of one or more vertebrae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100569","type":"entry-dictionary","title":"Abnormal vertebral ossification"},{"container-title":"HP:0002265","author":[{"family":"large fleshy ears"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002265","type":"entry-dictionary","title":"Large fleshy ears"},{"container-title":"HP:0100568","author":[{"family":"endocrine neoplasia"},{"family":"A tumor (abnormal growth of tissue) of the endocrine system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100568","type":"entry-dictionary","title":"Neoplasm of the endocrine system"},{"container-title":"HP:0002266","author":[{"family":"localized clonic seizure"},{"family":"partial clonic seizure"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002266","type":"entry-dictionary","title":"Focal clonic seizures"},{"container-title":"HP:0100571","author":[{"family":"ventricular diverticulum"},{"family":"A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100571","type":"entry-dictionary","title":"Cardiac diverticulum"},{"container-title":"HP:0002267","author":[{"family":"exaggerated acoustic startle response"},{"family":"increased startle response"},{"family":"hyperekplexia"},{"family":"An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002267","type":"entry-dictionary","title":"Exaggerated startle response"},{"container-title":"HP:0100570","author":[{"family":"carcinoid tumors"},{"family":"A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100570","type":"entry-dictionary","title":"Carcinoid tumor"},{"container-title":"HP:0002268","author":[{"family":"episodic dystonia"},{"family":"A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002268","type":"entry-dictionary","title":"Paroxysmal dystonia"},{"container-title":"HP:0100573","author":[{"family":"Muscular cardiac diverticulum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100573","type":"entry-dictionary","title":"Muscular cardiac diverticulum"},{"container-title":"HP:0002269","author":[{"family":"neuronal migration disorder"},{"family":"abnormal neuronal migration"},{"family":"migrational brain disorder"},{"family":"heterotopias\/abnormal migration"},{"family":"An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002269","type":"entry-dictionary","title":"Abnormality of neuronal migration"},{"container-title":"HP:0100572","author":[{"family":"congenital vetricular aneurysm"},{"family":"A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100572","type":"entry-dictionary","title":"Fibrous cardiac diverticulum"},{"container-title":"HP:0002270","author":[{"family":"An abnormality of the autonomic nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002270","type":"entry-dictionary","title":"Abnormality of the autonomic nervous system"},{"container-title":"HP:0100575","author":[{"family":"neoplasia of the gallbladder"},{"family":"The presence of a neoplasm of the gallbladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100575","type":"entry-dictionary","title":"Neoplasm of the gallbladder"},{"container-title":"HP:0002271","author":[{"family":"An abnormality of the regulation of the autonomic nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002271","type":"entry-dictionary","title":"Autonomic dysregulation"},{"container-title":"HP:0100574","author":[{"family":"neoplasia of the biliary tract"},{"family":"A tumor (abnormal growth of tissue) of the biliary system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100574","type":"entry-dictionary","title":"Biliary tract neoplasm"},{"container-title":"HP:0100577","author":[{"family":"cystitis of the urinary bladder"},{"family":"urinary bladder inflammation"},{"family":"Inflammation of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100577","type":"entry-dictionary","title":"Urinary bladder inflammation"},{"container-title":"HP:0002273","author":[{"family":"quadriparesis"},{"family":"Weakness of all four limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002273","type":"entry-dictionary","title":"Tetraparesis"},{"container-title":"HP:0100576","author":[{"family":"A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100576","type":"entry-dictionary","title":"Amaurosis fugax"},{"container-title":"HP:0100579","author":[{"family":"Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100579","type":"entry-dictionary","title":"Mucosal telangiectasiae"},{"container-title":"HP:0002275","author":[{"family":"poor motor coordination"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002275","type":"entry-dictionary","title":"Poor motor coordination"},{"container-title":"HP:0100578","author":[{"family":"Localized loss of fat tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100578","type":"entry-dictionary","title":"Lipoatrophy"},{"container-title":"HP:0100581","author":[{"family":"megacalicosis"},{"family":"caliectasis"},{"family":"caliceal dilatation"},{"family":"An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100581","type":"entry-dictionary","title":"Dilatation of renal calices"},{"container-title":"HP:0002277","author":[{"family":"oculosympathetic palsy"},{"family":"horner's syndrome"},{"family":"An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002277","type":"entry-dictionary","title":"Horner syndrome"},{"container-title":"HP:0100580","author":[{"family":"barret syndrome"},{"family":"endobrachyesophagus"},{"family":"barrett's esophagus"},{"family":"An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100580","type":"entry-dictionary","title":"Barrett esophagus"},{"container-title":"HP:0100583","author":[{"family":"iridocele"},{"family":"A rupture of the cornea through which a portion of the iris protrudes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100583","type":"entry-dictionary","title":"Corneal perforation"},{"container-title":"HP:0100582","author":[{"family":"polys of nose"},{"family":"nasal polyps"},{"family":"Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100582","type":"entry-dictionary","title":"Nasal polyposis"},{"container-title":"HP:0002280","author":[{"family":"mega cisterna magna"},{"family":"large cisterna magna"},{"family":"Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002280","type":"entry-dictionary","title":"Enlarged cisterna magna"},{"container-title":"HP:0100585","author":[{"family":"teleangiectasia of the skin"},{"family":"Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100585","type":"entry-dictionary","title":"Telangiectasia of the skin"},{"container-title":"HP:0002281","author":[{"family":"Gray matter heterotopia is a neurological disorder caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002281","type":"entry-dictionary","title":"Gray matter heterotopias"},{"container-title":"HP:0100584","author":[{"family":"An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100584","type":"entry-dictionary","title":"Endocarditis"},{"container-title":"HP:0002282","author":[{"family":"heterotopias"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002282","type":"entry-dictionary","title":"Heterotopia"},{"container-title":"HP:0100587","author":[{"family":"Abnormality of the preputium"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100587","type":"entry-dictionary","title":"Abnormality of the preputium"},{"container-title":"HP:0002283","author":[{"family":"diffuse brain atrophy"},{"family":"generalized brain degeneration"},{"family":"generalized brain atrophy"},{"family":"generalized cerebral atrophy"},{"family":"Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002283","type":"entry-dictionary","title":"Global brain atrophy"},{"container-title":"HP:0100586","author":[{"family":"Leukocyturia without bacterial growth upon urine culture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100586","type":"entry-dictionary","title":"Aseptic leukocyturia"},{"container-title":"HP:0100589","author":[{"family":"The presence of a fistula affecting the genitourinary system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100589","type":"entry-dictionary","title":"Urogenital fistula"},{"container-title":"HP:0100588","author":[{"family":"The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100588","type":"entry-dictionary","title":"Paraphimosis"},{"container-title":"HP:0002286","author":[{"family":"blond hair"},{"family":"straw colored hair"},{"family":"towhead (hair color)"},{"family":"flaxen hair color"},{"family":"light colored hair"},{"family":"sandy hair color"},{"family":"fair hair color"},{"family":"A lesser degree of hair pigmentation than would otherwise be expected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002286","type":"entry-dictionary","title":"Fair hair"},{"container-title":"HP:0002287","author":[{"family":"Progressive loss of hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002287","type":"entry-dictionary","title":"Progressive alopecia"},{"container-title":"HP:0100590","author":[{"family":"The presence of a fistula affecting the rectum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100590","type":"entry-dictionary","title":"Rectal fistula"},{"container-title":"HP:0100593","author":[{"family":"Calcification of cartilage"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100593","type":"entry-dictionary","title":"Calcification of cartilage"},{"container-title":"HP:0002289","author":[{"family":"universal alopecia"},{"family":"alopecia, complete"},{"family":"Loss of all hair on the entire body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002289","type":"entry-dictionary","title":"Alopecia universalis"},{"container-title":"HP:0100592","author":[{"family":"The presence of an abscess of the peritoneum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100592","type":"entry-dictionary","title":"Peritoneal abscess"},{"container-title":"HP:0002290","author":[{"family":"patch of white hair"},{"family":"white patch"},{"family":"Circumscribed depigmentation of the hair of the head or the eyelashes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002290","type":"entry-dictionary","title":"Poliosis"},{"container-title":"HP:0100595","author":[{"family":"An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100595","type":"entry-dictionary","title":"Camptocormia"},{"container-title":"HP:0100594","author":[{"family":"Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100594","type":"entry-dictionary","title":"Esophageal web"},{"container-title":"HP:0002292","author":[{"family":"frontal balding"},{"family":"male pattern baldness"},{"family":"Absence of hair in the anterior midline and\/or parietal areas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002292","type":"entry-dictionary","title":"Frontal balding"},{"container-title":"HP:0002293","author":[{"family":"baldness"},{"family":"pathologic hair loss from scalp"},{"family":"scalp hair loss"},{"family":"missing scalp hair"},{"family":"absence of scalp hair"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002293","type":"entry-dictionary","title":"Alopecia of scalp"},{"container-title":"HP:0100596","author":[{"family":"abouphalia"},{"family":"missing nostrils"},{"family":"aplasia\/hypoplasia of the nares"},{"family":"aplasia of the nares"},{"family":"The nostrils (the paired channels of the nose) are not present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100596","type":"entry-dictionary","title":"Absent nares"},{"container-title":"HP:0100599","author":[{"family":"penile duplication"},{"family":"diphallia"},{"family":"Two penile structures, separated from the tip to the base of the shaft."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100599","type":"entry-dictionary","title":"Bifid penis"},{"container-title":"HP:0100598","author":[{"family":"excess fluid in lungs"},{"family":"lung edema"},{"family":"pulmonary oedema"},{"family":"wet lung"},{"family":"Fluid accumulation in the lungs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100598","type":"entry-dictionary","title":"Pulmonary edema"},{"container-title":"HP:0002296","author":[{"family":"Progressively reduced or lacking hair growth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002296","type":"entry-dictionary","title":"Progressive hypotrichosis"},{"container-title":"HP:0100601","author":[{"family":"An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100601","type":"entry-dictionary","title":"Eclampsia"},{"container-title":"HP:0002297","author":[{"family":"ginger hair color"},{"family":"red hair color"},{"family":"red head (hair color)"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002297","type":"entry-dictionary","title":"Red hair"},{"container-title":"HP:0100600","author":[{"family":"prepenile scrotum"},{"family":"A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100600","type":"entry-dictionary","title":"Penoscrotal transposition"},{"container-title":"HP:0002298","author":[{"family":"absent hair"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002298","type":"entry-dictionary","title":"Absent hair"},{"container-title":"HP:0100603","author":[{"family":"hypertensive disorder of pregnancy"},{"family":"Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100603","type":"entry-dictionary","title":"Toxemia of pregnancy"},{"container-title":"HP:0002299","author":[{"family":"brittle hair"},{"family":"fragile hair"},{"family":"easily breakable hair"},{"family":"fractured hair"},{"family":"reduced tensile strength of hair"},{"family":"Fragile, easily breakable hair, i.e., with reduced tensile strength."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002299","type":"entry-dictionary","title":"Brittle hair"},{"container-title":"HP:0100602","author":[{"family":"pre-eclampsia"},{"family":"Pregnancy-induced hypertension in association with significant amounts of protein in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100602","type":"entry-dictionary","title":"Preeclampsia"},{"container-title":"HP:0002300","author":[{"family":"muteness"},{"family":"inability to speak"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002300","type":"entry-dictionary","title":"Mutism"},{"container-title":"HP:0100605","author":[{"family":"Neoplasm of the larynx"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100605","type":"entry-dictionary","title":"Neoplasm of the larynx"},{"container-title":"HP:0002301","author":[{"family":"Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002301","type":"entry-dictionary","title":"Hemiplegia"},{"container-title":"HP:0100604","author":[{"family":"tumor of the lip"},{"family":"lip tumor"},{"family":"neoplasia of the lip"},{"family":"A tumor (abnormal growth of tissue) of the lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100604","type":"entry-dictionary","title":"Neoplasm of the lip"},{"container-title":"HP:0100607","author":[{"family":"painful menstruation"},{"family":"Pain during menstruation that interferes with daily activities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100607","type":"entry-dictionary","title":"Dysmenorrhea"},{"container-title":"HP:0100606","author":[{"family":"respiratory system tumor"},{"family":"A tumor (abnormal growth of tissue) of the respiratory system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100606","type":"entry-dictionary","title":"Neoplasm of the respiratory system"},{"container-title":"HP:0002304","author":[{"family":"Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002304","type":"entry-dictionary","title":"Akinesia"},{"container-title":"HP:0002305","author":[{"family":"athetoid movements"},{"family":"involuntary writhing movements"},{"family":"A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002305","type":"entry-dictionary","title":"Athetosis"},{"container-title":"HP:0100608","author":[{"family":"abnormal uterus bleeding"},{"family":"Bleeding at irregular intervals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100608","type":"entry-dictionary","title":"Metrorrhagia"},{"container-title":"HP:0100611","author":[{"family":"glomerulocystic kidney disease"},{"family":"The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100611","type":"entry-dictionary","title":"Multiple glomerular cysts"},{"container-title":"HP:0002307","author":[{"family":"drooling"},{"family":"dribbling"},{"family":"sialorrhea"},{"family":"Habitual flow of saliva out of the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002307","type":"entry-dictionary","title":"Drooling"},{"container-title":"HP:0100610","author":[{"family":"high blood phenylalanine level in mother"},{"family":"A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100610","type":"entry-dictionary","title":"Maternal hyperphenylalaninemia"},{"container-title":"HP:0002308","author":[{"family":"arnola-chiari malformation"},{"family":"Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002308","type":"entry-dictionary","title":"Arnold-Chiari malformation"},{"container-title":"HP:0100613","author":[{"family":"death in early adulthood"},{"family":"Death between the age of 16 and 40 years."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100613","type":"entry-dictionary","title":"Death in early adulthood"},{"container-title":"HP:0100612","author":[{"family":"odontogenic tumor"},{"family":"Neoplasm involving odontogenic cells, an odontogenic tumor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100612","type":"entry-dictionary","title":"Odontogenic neoplasm"},{"container-title":"HP:0002310","author":[{"family":"orofacial dyskinesias"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002310","type":"entry-dictionary","title":"Orofacial dyskinesia"},{"container-title":"HP:0100615","author":[{"family":"ovarian cancer"},{"family":"ovarian neoplasia"},{"family":"neoplasm of the ovary"},{"family":"neoplasm of the ovaries"},{"family":"ovarian tumor"},{"family":"A tumor (abnormal growth of tissue) of the ovary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100615","type":"entry-dictionary","title":"Ovarian neoplasm"},{"container-title":"HP:0002311","author":[{"family":"limb incoordination"},{"family":"difficulties in coordination"},{"family":"incoordination of limb movements"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002311","type":"entry-dictionary","title":"Incoordination"},{"container-title":"HP:0100614","author":[{"family":"muscle inflammation"},{"family":"A general term for inflammation of the muscles without respect to the underlying cause."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100614","type":"entry-dictionary","title":"Myositis"},{"container-title":"HP:0002312","author":[{"family":"clumsiness"},{"family":"Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002312","type":"entry-dictionary","title":"Clumsiness"},{"container-title":"HP:0100617","author":[{"family":"The presence of a seminoma, an undifferentiated germ cell tumor of the testis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100617","type":"entry-dictionary","title":"Testicular seminoma"},{"container-title":"HP:0002313","author":[{"family":"Spastic paraparesis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002313","type":"entry-dictionary","title":"Spastic paraparesis"},{"container-title":"HP:0100616","author":[{"family":"The presence of a teratoma of the testis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100616","type":"entry-dictionary","title":"Testicular teratoma"},{"container-title":"HP:0002314","author":[{"family":"degeneration of lateral corticospinal tracts"},{"family":"Deterioration of the tissues of the lateral corticospinal tracts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002314","type":"entry-dictionary","title":"Degeneration of the lateral corticospinal tracts"},{"container-title":"HP:0100619","author":[{"family":"sertoli cell neoplasia"},{"family":"The presence of a neoplasm of the testis with origin in a Sertoli cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100619","type":"entry-dictionary","title":"Sertoli cell neoplasm"},{"container-title":"HP:0002315","author":[{"family":"headaches"},{"family":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002315","type":"entry-dictionary","title":"Headache"},{"container-title":"HP:0100618","author":[{"family":"The presence of a neoplasm of the testis with origin in a Leydig cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100618","type":"entry-dictionary","title":"Leydig cell neoplasia"},{"container-title":"HP:0100621","author":[{"family":"The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100621","type":"entry-dictionary","title":"Dysgerminoma"},{"container-title":"HP:0002317","author":[{"family":"gait instability"},{"family":"unsteady 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This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100647","type":"entry-dictionary","title":"Graves disease"},{"container-title":"HP:0002343","author":[{"family":"normal-pressure hydrocephalus"},{"family":"A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002343","type":"entry-dictionary","title":"Normal pressure hydrocephalus"},{"container-title":"HP:0100646","author":[{"family":"thyroid gland inflammation"},{"family":"Inflammation of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100646","type":"entry-dictionary","title":"Thyroiditis"},{"container-title":"HP:0002344","author":[{"family":"neurologic deterioration, progressive"},{"family":"progressive mental deterioration"},{"family":"progressive neurodegeneration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002344","type":"entry-dictionary","title":"Progressive neurologic deterioration"},{"container-title":"HP:0100649","author":[{"family":"neoplasm of the mouth"},{"family":"tumor of mouth"},{"family":"lesion of oral cavity"},{"family":"lesion of mouth"},{"family":"tumor of oral cavity"},{"family":"A tumor (abnormal growth of tissue) of the oral cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100649","type":"entry-dictionary","title":"Neoplasm of the oral cavity"},{"container-title":"HP:0002345","author":[{"family":"ataxic tremor"},{"family":"A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002345","type":"entry-dictionary","title":"Action tremor"},{"container-title":"HP:0100648","author":[{"family":"A tumor (abnormal growth of tissue) of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100648","type":"entry-dictionary","title":"Neoplasm of the tongue"},{"container-title":"HP:0002346","author":[{"family":"head tremor"},{"family":"An unintentional, oscillating to-and-fro muscle movement affecting head movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002346","type":"entry-dictionary","title":"Head tremor"},{"container-title":"HP:0100651","author":[{"family":"insulin-dependent diabetes mellitus"},{"family":"type 1 diabetes"},{"family":"diabetes mellitus type i"},{"family":"juvenile diabetes mellitus"},{"family":"type i diabetes"},{"family":"A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100651","type":"entry-dictionary","title":"Type I diabetes mellitus"},{"container-title":"HP:0100650","author":[{"family":"vaginal tumor"},{"family":"vaginal neoplasia"},{"family":"A tumor (abnormal growth of tissue) of the vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100650","type":"entry-dictionary","title":"Vaginal neoplasm"},{"container-title":"HP:0100653","author":[{"family":"Inflammation of the optic nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100653","type":"entry-dictionary","title":"Optic neuritis"},{"container-title":"HP:0002349","author":[{"family":"simple partial seizures"},{"family":"A partial seizure in which consciousness is maintained."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002349","type":"entry-dictionary","title":"Focal seizures without impairment of consciousness or awareness"},{"container-title":"HP:0002350","author":[{"family":"cerebellar cysts"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002350","type":"entry-dictionary","title":"Cerebellar cyst"},{"container-title":"HP:0100654","author":[{"family":"retrobulbar neuritis"},{"family":"Optic neuritis that occurs in the section of the optic nerve located behind the eyeball."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100654","type":"entry-dictionary","title":"Retrobulbar optic neuritis"},{"container-title":"HP:0002352","author":[{"family":"This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002352","type":"entry-dictionary","title":"Leukoencephalopathy"},{"container-title":"HP:0100657","author":[{"family":"celosomia"},{"family":"kelosomia"},{"family":"Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100657","type":"entry-dictionary","title":"Thoracoabdominal eventration"},{"container-title":"HP:0002353","author":[{"family":"abnormal eeg"},{"family":"abnormal electroencephalogram"},{"family":"electroencephalogram abnormalities"},{"family":"eeg abnormalities"},{"family":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002353","type":"entry-dictionary","title":"EEG abnormality"},{"container-title":"HP:0100656","author":[{"family":"thoracoabdominal schisis"},{"family":"Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100656","type":"entry-dictionary","title":"Thoracoabdominal wall defect"},{"container-title":"HP:0002354","author":[{"family":"memory loss"},{"family":"memory problems"},{"family":"forgetfulness"},{"family":"memory impairment"},{"family":"poor memory"},{"family":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002354","type":"entry-dictionary","title":"Memory impairment"},{"container-title":"HP:0100659","author":[{"family":"abnormality of the cerebral blood vessels"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100659","type":"entry-dictionary","title":"Abnormality of the cerebral vasculature"},{"container-title":"HP:0002355","author":[{"family":"difficulty walking"},{"family":"difficulty in walking"},{"family":"Reduced ability to walk (ambulate)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002355","type":"entry-dictionary","title":"Difficulty walking"},{"container-title":"HP:0100658","author":[{"family":"skin infection"},{"family":"bacterial infection of skin"},{"family":"A bacterial infection and inflammation of the skin und subcutaneous tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100658","type":"entry-dictionary","title":"Cellulitis"},{"container-title":"HP:0002356","author":[{"family":"writer's cramp"},{"family":"A focal dystonia of the fingers, hand, and\/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002356","type":"entry-dictionary","title":"Writer's cramp"},{"container-title":"HP:0100661","author":[{"family":"tic douloureux"},{"family":"A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100661","type":"entry-dictionary","title":"Trigeminal neuralgia"},{"container-title":"HP:0002357","author":[{"family":"Dysphasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002357","type":"entry-dictionary","title":"Dysphasia"},{"container-title":"HP:0100660","author":[{"family":"dyskinesias"},{"family":"dyskinesis"},{"family":"A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100660","type":"entry-dictionary","title":"Dyskinesia"},{"container-title":"HP:0100663","author":[{"family":"A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100663","type":"entry-dictionary","title":"Synotia"},{"container-title":"HP:0002359","author":[{"family":"frequent falls"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002359","type":"entry-dictionary","title":"Frequent falls"},{"container-title":"HP:0100662","author":[{"family":"cartilage inflammation"},{"family":"Inflammation of cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100662","type":"entry-dictionary","title":"Chondritis"},{"container-title":"HP:0002360","author":[{"family":"sleep disturbances"},{"family":"difficulty sleeping"},{"family":"sleep dysfunction"},{"family":"trouble sleeping"},{"family":"An abnormality of sleep including such phenomena as 1) insomnia\/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002360","type":"entry-dictionary","title":"Sleep disturbance"},{"container-title":"HP:0100665","author":[{"family":"angioneurotic oedema"},{"family":"quincke edema"},{"family":"angiooedema"},{"family":"Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and\/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100665","type":"entry-dictionary","title":"Angioedema"},{"container-title":"HP:0002361","author":[{"family":"psychomotor degeneration"},{"family":"Loss of previously present mental and motor abilities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002361","type":"entry-dictionary","title":"Psychomotor deterioration"},{"container-title":"HP:0002362","author":[{"family":"shuffled walk"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002362","type":"entry-dictionary","title":"Shuffling gait"},{"container-title":"HP:0002363","author":[{"family":"abnormal shape of brainstem"},{"family":"abnormality of the brainstem"},{"family":"An anomaly of the brainstem."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002363","type":"entry-dictionary","title":"Abnormality of brainstem morphology"},{"container-title":"HP:0100669","author":[{"family":"abnormal pigmentation of oral cavity"},{"family":"abnormal pigmentation of oral mucous membrane"},{"family":"abnormal pigmentation of the oral mucosa\/gingivae"},{"family":"abnormal color of the oral mucosa"},{"family":"An abnormality of the pigmentation of the mucosa of the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100669","type":"entry-dictionary","title":"Abnormal pigmentation of the oral mucosa"},{"container-title":"HP:0002365","author":[{"family":"small brainstem"},{"family":"hypoplastic brainstem"},{"family":"underdeveloped brainstem"},{"family":"brainstem hypoplasia"},{"family":"hypoplastic brain stem"},{"family":"Underdevelopment of the brainstem."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002365","type":"entry-dictionary","title":"Hypoplasia of the brainstem"},{"container-title":"HP:0100668","author":[{"family":"gut duplication"},{"family":"bowel duplication"},{"family":"A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100668","type":"entry-dictionary","title":"Intestinal duplication"},{"container-title":"HP:0002366","author":[{"family":"lower motor neuron disease"},{"family":"lower motor neuron signs"},{"family":"lower motor neuron manifestations"},{"family":"Any structural anomaly of the lower motor neuron."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002366","type":"entry-dictionary","title":"Abnormal lower motor neuron morphology"},{"container-title":"HP:0100671","author":[{"family":"abnormal shape of spongy bone"},{"family":"abnormality of bone trabeculation"},{"family":"Abnormal structure or form of trabecular bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100671","type":"entry-dictionary","title":"Abnormal trabecular bone morphology"},{"container-title":"HP:0002367","author":[{"family":"visual hallucinations"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002367","type":"entry-dictionary","title":"Visual hallucinations"},{"container-title":"HP:0100670","author":[{"family":"rough trabeculation of bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100670","type":"entry-dictionary","title":"Rough bone trabeculation"},{"container-title":"HP:0100673","author":[{"family":"Vaginal hydrocele"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100673","type":"entry-dictionary","title":"Vaginal hydrocele"},{"container-title":"HP:0100672","author":[{"family":"The presence of a hernia of the vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100672","type":"entry-dictionary","title":"Vaginal hernia"},{"container-title":"HP:0002370","author":[{"family":"poor coordination"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002370","type":"entry-dictionary","title":"Poor coordination"},{"container-title":"HP:0100675","author":[{"family":"Vaginal pyocele"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100675","type":"entry-dictionary","title":"Vaginal pyocele"},{"container-title":"HP:0002371","author":[{"family":"loss of speech"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002371","type":"entry-dictionary","title":"Loss of speech"},{"container-title":"HP:0100674","author":[{"family":"Vaginal hematocele"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100674","type":"entry-dictionary","title":"Vaginal hematocele"},{"container-title":"HP:0002372","author":[{"family":"Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002372","type":"entry-dictionary","title":"Normal interictal EEG"},{"container-title":"HP:0100677","author":[{"family":"Varicosity of veins in the vulval region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100677","type":"entry-dictionary","title":"Vulval varicose vein"},{"container-title":"HP:0002373","author":[{"family":"seizures, generalized, associated with fever"},{"family":"fever induced seizures"},{"family":"seizures, febrile, in early childhood"},{"family":"febrile convulsions"},{"family":"Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002373","type":"entry-dictionary","title":"Febrile seizures"},{"container-title":"HP:0100676","author":[{"family":"Vaginal lymphocele"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100676","type":"entry-dictionary","title":"Vaginal lymphocele"},{"container-title":"HP:0002374","author":[{"family":"diminished movement"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002374","type":"entry-dictionary","title":"Diminished movement"},{"container-title":"HP:0100679","author":[{"family":"tight skin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100679","type":"entry-dictionary","title":"Lack of skin elasticity"},{"container-title":"HP:0002375","author":[{"family":"decreased spontaneous movements"},{"family":"decreased muscle movement"},{"family":"Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002375","type":"entry-dictionary","title":"Hypokinesia"},{"container-title":"HP:0100678","author":[{"family":"wrinkled skin"},{"family":"premature skin wrinkling"},{"family":"The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100678","type":"entry-dictionary","title":"Premature skin wrinkling"},{"container-title":"HP:0002376","author":[{"family":"mental deterioration in childhood"},{"family":"psychomotor regression in infants"},{"family":"loss of developmental milestones"},{"family":"neurodevelopmental regression"},{"family":"psychomotor regression, progressive"},{"family":"psychomotor regression beginning in infancy"},{"family":"Loss of developmental skills, as manifested by loss of developmental milestones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002376","type":"entry-dictionary","title":"Developmental regression"},{"container-title":"HP:0100681","author":[{"family":"A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100681","type":"entry-dictionary","title":"Esophageal duplication"},{"container-title":"HP:0002378","author":[{"family":"tremors in hands"},{"family":"hand tremor"},{"family":"tremor of hands"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002378","type":"entry-dictionary","title":"Hand tremor"},{"container-title":"HP:0100682","author":[{"family":"A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100682","type":"entry-dictionary","title":"Tracheal atresia"},{"container-title":"HP:0002380","author":[{"family":"muscle fasciculation"},{"family":"muscle twitch"},{"family":"Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002380","type":"entry-dictionary","title":"Fasciculations"},{"container-title":"HP:0100685","author":[{"family":"enthesis abnormality"},{"family":"abnormality of sharpey fibers"},{"family":"An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100685","type":"entry-dictionary","title":"Abnormal Sharpey fiber morphology"},{"container-title":"HP:0002381","author":[{"family":"losing words"},{"family":"loss of words"},{"family":"difficulty finding words"},{"family":"An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002381","type":"entry-dictionary","title":"Aphasia"},{"container-title":"HP:0100684","author":[{"family":"cancer of salivary gland"},{"family":"tumor of salivary gland"},{"family":"salivary gland neoplasia"},{"family":"A tumor (abnormal growth of tissue) of a salivary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100684","type":"entry-dictionary","title":"Salivary gland neoplasm"},{"container-title":"HP:0100687","author":[{"family":"The presence of an extra auricle on one or both sides of the head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100687","type":"entry-dictionary","title":"Polyotia"},{"container-title":"HP:0002383","author":[{"family":"brain inflammation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002383","type":"entry-dictionary","title":"Encephalitis"},{"container-title":"HP:0100686","author":[{"family":"inflammation of sharpey fibers"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100686","type":"entry-dictionary","title":"Enthesitis"},{"container-title":"HP:0002384","author":[{"family":"complex focal seizures"},{"family":"complex partial seizures"},{"family":"dyscognitive seizures"},{"family":"A partial seizure characterized by impairment or loss of consciousness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002384","type":"entry-dictionary","title":"Focal seizures with impairment of consciousness or awareness"},{"container-title":"HP:0100689","author":[{"family":"thin cornea"},{"family":"A decreased anteroposterior thickness of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100689","type":"entry-dictionary","title":"Decreased corneal thickness"},{"container-title":"HP:0002385","author":[{"family":"Weakness or partial paralysis in the lower limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002385","type":"entry-dictionary","title":"Paraparesis"},{"container-title":"HP:0100691","author":[{"family":"Abnormality of the curvature of the cornea"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100691","type":"entry-dictionary","title":"Abnormality of the curvature of the cornea"},{"container-title":"HP:0100690","author":[{"family":"Mosaic central corneal dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100690","type":"entry-dictionary","title":"Mosaic central corneal dystrophy"},{"container-title":"HP:0100693","author":[{"family":"Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100693","type":"entry-dictionary","title":"Iridodonesis"},{"container-title":"HP:0002389","author":[{"family":"widened cavum septum pellucidum"},{"family":"persistent cavum septum pellucidum"},{"family":"large cavum septi pellucidi"},{"family":"If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002389","type":"entry-dictionary","title":"Cavum septum pellucidum"},{"container-title":"HP:0100692","author":[{"family":"steep corneal curvature"},{"family":"An increase in the degree of curvature of the cornea compared to normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100692","type":"entry-dictionary","title":"Increased corneal curvature"},{"container-title":"HP:0002390","author":[{"family":"Spinal arteriovenous malformation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002390","type":"entry-dictionary","title":"Spinal arteriovenous malformation"},{"container-title":"HP:0100695","author":[{"family":"Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise ."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100695","type":"entry-dictionary","title":"Lipedema"},{"container-title":"HP:0100694","author":[{"family":"Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100694","type":"entry-dictionary","title":"Tibial torsion"},{"container-title":"HP:0002392","author":[{"family":"eeg: spike and multispike waves, 3-4 hz"},{"family":"The presence of complexes of repetitive spikes and waves in EEG."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002392","type":"entry-dictionary","title":"EEG with polyspike wave complexes"},{"container-title":"HP:0100697","author":[{"family":"malignant peripheral nerve sheath tumor"},{"family":"malignant schwannoma"},{"family":"neurosarcoma"},{"family":"A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100697","type":"entry-dictionary","title":"Neurofibrosarcoma"},{"container-title":"HP:0100699","author":[{"family":"scarring"},{"family":"scar tissue"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100699","type":"entry-dictionary","title":"Scarring"},{"container-title":"HP:0002395","author":[{"family":"brisk lower extremity reflexes"},{"family":"hyperreflexia in the lower limbs"},{"family":"hyperreflexia in lower limbs"},{"family":"increased deep tendon reflexes in the lower limbs"},{"family":"overactive lower leg reflex"},{"family":"leg hyperreflexia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002395","type":"entry-dictionary","title":"Lower limb hyperreflexia"},{"container-title":"HP:0100698","author":[{"family":"The presence of Neurofibromas in the subcutis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100698","type":"entry-dictionary","title":"Subcutaneous neurofibromas"},{"container-title":"HP:0002396","author":[{"family":"A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002396","type":"entry-dictionary","title":"Cogwheel rigidity"},{"container-title":"HP:0100701","author":[{"family":"An abnormality of the Pia mater."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100701","type":"entry-dictionary","title":"Abnormality of the pia mater"},{"container-title":"HP:0100700","author":[{"family":"abnormality of the arachnoidea"},{"family":"An abnormality of the Arachnoid mater."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100700","type":"entry-dictionary","title":"Abnormality of the arachnoid mater"},{"container-title":"HP:0002398","author":[{"family":"spinal cord anterior horn cell degeneration"},{"family":"degeneration of alpha-motor neurons in anterior horn cells of the spinal cord"},{"family":"progressive loss of anterior horn cells"},{"family":"loss of spinal cord anterior horn cells"},{"family":"anterior horn cell loss"},{"family":"degeneration of spinal cord anterior horn cells"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002398","type":"entry-dictionary","title":"Degeneration of anterior horn cells"},{"container-title":"HP:0100703","author":[{"family":"tongue thrusting"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100703","type":"entry-dictionary","title":"Tongue thrusting"},{"container-title":"HP:0100702","author":[{"family":"arachnoid cysts"},{"family":"An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100702","type":"entry-dictionary","title":"Arachnoid cyst"},{"container-title":"HP:0100705","author":[{"family":"An abnormality of the glia cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100705","type":"entry-dictionary","title":"Abnormality of the glial cells"},{"container-title":"HP:0002401","author":[{"family":"stroke-like episodes"},{"family":"strokelike episodes"},{"family":"No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002401","type":"entry-dictionary","title":"Stroke-like episode"},{"container-title":"HP:0100704","author":[{"family":"cortical\/cerebral visual impairment"},{"family":"cortical blindness"},{"family":"cvi"},{"family":"A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100704","type":"entry-dictionary","title":"Cortical visual impairment"},{"container-title":"HP:0100707","author":[{"family":"An abnormality of astrocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100707","type":"entry-dictionary","title":"Abnormality of the astrocytes"},{"container-title":"HP:0002403","author":[{"family":"The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002403","type":"entry-dictionary","title":"Positive Romberg sign"},{"container-title":"HP:0100706","author":[{"family":"One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100706","type":"entry-dictionary","title":"Abnormality of the oligodendroglia"},{"container-title":"HP:0002404","author":[{"family":"thick cerebellar peduncles"},{"family":"Increased width of the superior cerebellar peduncle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002404","type":"entry-dictionary","title":"Thickened superior cerebellar peduncle"},{"container-title":"HP:0100709","author":[{"family":"Reduction of oligodendroglia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100709","type":"entry-dictionary","title":"Reduction of oligodendroglia"},{"container-title":"HP:0100708","author":[{"family":"An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100708","type":"entry-dictionary","title":"Abnormality of the microglia"},{"container-title":"HP:0002406","author":[{"family":"uncoordinated limb movement"},{"family":"A type of dysmetria involving the limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002406","type":"entry-dictionary","title":"Limb dysmetria"},{"container-title":"HP:0100711","author":[{"family":"An abnormality of the thoracic vertebral column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100711","type":"entry-dictionary","title":"Abnormality of the thoracic spine"},{"container-title":"HP:0100710","author":[{"family":"impulsive"},{"family":"impulsivity"},{"family":"Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100710","type":"entry-dictionary","title":"Impulsivity"},{"container-title":"HP:0002408","author":[{"family":"cerebral av malformation"},{"family":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002408","type":"entry-dictionary","title":"Cerebral arteriovenous malformation"},{"container-title":"HP:0100712","author":[{"family":"An abnormality of the lumbar vertebral column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100712","type":"entry-dictionary","title":"Abnormality of the lumbar spine"},{"container-title":"HP:0002410","author":[{"family":"aqueduct stenosis"},{"family":"aqueduct of sylvius stenosis"},{"family":"Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002410","type":"entry-dictionary","title":"Aqueductal stenosis"},{"container-title":"HP:0002411","author":[{"family":"Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002411","type":"entry-dictionary","title":"Myokymia"},{"container-title":"HP:0100717","author":[{"family":"Abnormality of the cementum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100717","type":"entry-dictionary","title":"Abnormality of the cementum"},{"container-title":"HP:0100716","author":[{"family":"autoagression"},{"family":"self-injurious behaviors"},{"family":"self-injurious behaviour"},{"family":"self-harm"},{"family":"Aggression towards oneself."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100716","type":"entry-dictionary","title":"Self-injurious behavior"},{"container-title":"HP:0002414","author":[{"family":"split spine"},{"family":"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002414","type":"entry-dictionary","title":"Spina bifida"},{"container-title":"HP:0100719","author":[{"family":"A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100719","type":"entry-dictionary","title":"Lens coloboma"},{"container-title":"HP:0002415","author":[{"family":"degeneration of white matter of brain"},{"family":"Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002415","type":"entry-dictionary","title":"Leukodystrophy"},{"container-title":"HP:0100718","author":[{"family":"Uterine rupture"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100718","type":"entry-dictionary","title":"Uterine rupture"},{"container-title":"HP:0002416","author":[{"family":"Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002416","type":"entry-dictionary","title":"Subependymal cysts"},{"container-title":"HP:0100721","author":[{"family":"Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100721","type":"entry-dictionary","title":"Mediastinal lymphadenopathy"},{"container-title":"HP:0100720","author":[{"family":"underdeveloped ear cartilage"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100720","type":"entry-dictionary","title":"Hypoplasia of the ear cartilage"},{"container-title":"HP:0002418","author":[{"family":"abnormality of the mesencephalon"},{"family":"abnormality of the midbrain"},{"family":"abnormal shape of midbrain"},{"family":"An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002418","type":"entry-dictionary","title":"Abnormality of midbrain morphology"},{"container-title":"HP:0100723","author":[{"family":"gist"},{"family":"gastrointestinal stromal tumors"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100723","type":"entry-dictionary","title":"Gastrointestinal stroma tumor"},{"container-title":"HP:0002419","author":[{"family":"'molar tooth' sign on imaging"},{"family":"'molar tooth sign' on brain imaging'"},{"family":"An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002419","type":"entry-dictionary","title":"Molar tooth sign on MRI"},{"container-title":"HP:0100725","author":[{"family":"Thickening and hardening of the epidermis seen with exaggeration of normal skin lines."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100725","type":"entry-dictionary","title":"Lichenification"},{"container-title":"HP:0002421","author":[{"family":"poor head control"},{"family":"Difficulty to maintain correct position of the head while standing or sitting."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002421","type":"entry-dictionary","title":"Poor head control"},{"container-title":"HP:0100724","author":[{"family":"thrombophilia"},{"family":"blood hyperviscosity"},{"family":"An abnormality of coagulation associated with an increased risk of thrombosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100724","type":"entry-dictionary","title":"Hypercoagulability"},{"container-title":"HP:0100727","author":[{"family":"An excessive number of histiocytes (tissue macrophages)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100727","type":"entry-dictionary","title":"Histiocytosis"},{"container-title":"HP:0002423","author":[{"family":"long tract signs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002423","type":"entry-dictionary","title":"Long-tract signs"},{"container-title":"HP:0100726","author":[{"family":"A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100726","type":"entry-dictionary","title":"Kaposi's sarcoma"},{"container-title":"HP:0100729","author":[{"family":"big face"},{"family":"large facies"},{"family":"large face"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100729","type":"entry-dictionary","title":"Large face"},{"container-title":"HP:0002425","author":[{"family":"loss of articulate speech"},{"family":"A defect in the motor ability that enables speech."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002425","type":"entry-dictionary","title":"Anarthria"},{"container-title":"HP:0100728","author":[{"family":"Germ cell neoplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100728","type":"entry-dictionary","title":"Germ cell neoplasia"},{"container-title":"HP:0100731","author":[{"family":"tessier cleft number 7"},{"family":"lateral facial cleft"},{"family":"tessier facial cleft number 8"},{"family":"tessier facial cleft number 7"},{"family":"tessier facial cleft number 6"},{"family":"A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100731","type":"entry-dictionary","title":"Transverse facial cleft"},{"container-title":"HP:0002427","author":[{"family":"expressive aphasia"},{"family":"loss of expressive speech"},{"family":"broca's aphasia"},{"family":"Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002427","type":"entry-dictionary","title":"Motor aphasia"},{"container-title":"HP:0100730","author":[{"family":"A rare congenital cystic lesion of the lungs in the mediastinum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100730","type":"entry-dictionary","title":"Bronchogenic cyst"},{"container-title":"HP:0100733","author":[{"family":"parathyroid neoplasia"},{"family":"A tumor (abnormal growth of tissue) of the parathyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100733","type":"entry-dictionary","title":"Neoplasm of the parathyroid gland"},{"container-title":"HP:0100732","author":[{"family":"Pancreatic fibrosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100732","type":"entry-dictionary","title":"Pancreatic fibrosis"},{"container-title":"HP:0100735","author":[{"family":"Hypertensive crisis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100735","type":"entry-dictionary","title":"Hypertensive crisis"},{"container-title":"HP:0100734","author":[{"family":"abnormal shape of the end part of the vertebra bone"},{"family":"abnormality of the vertebral epiphyses"},{"family":"An anomaly of one or more epiphyses of one or more vertebrae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100734","type":"entry-dictionary","title":"Abnormality of vertebral epiphysis morphology"},{"container-title":"HP:0100737","author":[{"family":"abnormality of the secondary palate"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100737","type":"entry-dictionary","title":"Abnormality of the hard palate"},{"container-title":"HP:0100736","author":[{"family":"abnormality of the muscular palate"},{"family":"abnormality of the velum palatinum"},{"family":"An abnormality of the soft palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100736","type":"entry-dictionary","title":"Abnormality of the soft palate"},{"container-title":"HP:0100739","author":[{"family":"binge and purge"},{"family":"A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100739","type":"entry-dictionary","title":"Bulimia"},{"container-title":"HP:0002435","author":[{"family":"Protrusion of the meninges through a defect of the vertebral column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002435","type":"entry-dictionary","title":"Meningocele"},{"container-title":"HP:0100738","author":[{"family":"abnormal eating behavior"},{"family":"Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100738","type":"entry-dictionary","title":"Abnormal eating behavior"},{"container-title":"HP:0002436","author":[{"family":"A herniation of meninges through a congenital bone defect in the skull in the occipital region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002436","type":"entry-dictionary","title":"Occipital meningocele"},{"container-title":"HP:0002438","author":[{"family":"Cerebellar malformation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002438","type":"entry-dictionary","title":"Cerebellar malformation"},{"container-title":"HP:0100743","author":[{"family":"rectal tumor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100743","type":"entry-dictionary","title":"Neoplasm of the rectum"},{"container-title":"HP:0002439","author":[{"family":"Frontolimbic dementia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002439","type":"entry-dictionary","title":"Frontolimbic dementia"},{"container-title":"HP:0100742","author":[{"family":"blood vessel tumor"},{"family":"A benign or malignant neoplasm (tumour) originating in the vascular system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100742","type":"entry-dictionary","title":"Vascular neoplasm"},{"container-title":"HP:0100745","author":[{"family":"An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100745","type":"entry-dictionary","title":"Abnormality of the humeroulnar joint"},{"container-title":"HP:0100744","author":[{"family":"Abnormality of the humeroradial joint"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100744","type":"entry-dictionary","title":"Abnormality of the humeroradial joint"},{"container-title":"HP:0002442","author":[{"family":"difficulty making arithmetical calculations"},{"family":"A specific learning disability involving mathematics and arithmetic."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002442","type":"entry-dictionary","title":"Dyscalculia"},{"container-title":"HP:0100747","author":[{"family":"foot macrodactyly"},{"family":"A type of Macrodactyly affecting one or several toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100747","type":"entry-dictionary","title":"Macrodactyly of toe"},{"container-title":"HP:0100746","author":[{"family":"macrodactyly of hands"},{"family":"A type of Macrodactyly affecting one or several fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100746","type":"entry-dictionary","title":"Macrodactyly of finger"},{"container-title":"HP:0002444","author":[{"family":"The presence of a hamartoma of the hypothalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002444","type":"entry-dictionary","title":"Hypothalamic hamartoma"},{"container-title":"HP:0100749","author":[{"family":"chest pain"},{"family":"thoracic pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100749","type":"entry-dictionary","title":"Chest pain"},{"container-title":"HP:0002445","author":[{"family":"quadriplegia"},{"family":"paralysis of all four limbs"},{"family":"Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002445","type":"entry-dictionary","title":"Tetraplegia"},{"container-title":"HP:0100748","author":[{"family":"Muscular edema"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100748","type":"entry-dictionary","title":"Muscular edema"},{"container-title":"HP:0002446","author":[{"family":"increase in astrocyte number"},{"family":"Proliferation of astrocytes in the area of a lesion of the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002446","type":"entry-dictionary","title":"Astrocytosis"},{"container-title":"HP:0100751","author":[{"family":"esophageal tumor"},{"family":"A tumor (abnormal growth of tissue) of the esophagus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100751","type":"entry-dictionary","title":"Esophageal neoplasm"},{"container-title":"HP:0100750","author":[{"family":"pulmonary atelectasis"},{"family":"Collapse of part of a lung associated with absence of inflation (air) of that part."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100750","type":"entry-dictionary","title":"Atelectasis"},{"container-title":"HP:0002448","author":[{"family":"progressive brain disease"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002448","type":"entry-dictionary","title":"Progressive encephalopathy"},{"container-title":"HP:0100753","author":[{"family":"A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100753","type":"entry-dictionary","title":"Schizophrenia"},{"container-title":"HP:0100752","author":[{"family":"hepatic anomalous lobulation"},{"family":"anomalous liver lobulation"},{"family":"Formation of abnormal lobules (small masses of tissue) in the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100752","type":"entry-dictionary","title":"Abnormal liver lobulation"},{"container-title":"HP:0002450","author":[{"family":"abnormal shape of motor neuron"},{"family":"Any structural anomal that affects the motor neuron."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002450","type":"entry-dictionary","title":"Abnormal motor neuron morphology"},{"container-title":"HP:0100755","author":[{"family":"abnormal spit"},{"family":"abnormality of salivation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100755","type":"entry-dictionary","title":"Abnormality of salivation"},{"container-title":"HP:0002451","author":[{"family":"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002451","type":"entry-dictionary","title":"Limb dystonia"},{"container-title":"HP:0100754","author":[{"family":"manic"},{"family":"A state of abnormally elevated or irritable mood, arousal, and or energy levels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100754","type":"entry-dictionary","title":"Mania"},{"container-title":"HP:0100757","author":[{"family":"A rare pediatric carcinoma of the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100757","type":"entry-dictionary","title":"Pancreatoblastoma"},{"container-title":"HP:0002453","author":[{"family":"An abnormality of the globus pallidus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002453","type":"entry-dictionary","title":"Abnormal globus pallidus morphology"},{"container-title":"HP:0002454","author":[{"family":"The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002454","type":"entry-dictionary","title":"Eye of the tiger anomaly of globus pallidus"},{"container-title":"HP:0100759","author":[{"family":"clubbing (hands)"},{"family":"clubbed fingers"},{"family":"finger clubbing"},{"family":"clubbing of fingers"},{"family":"Terminal broadening of the fingers (distal phalanges of the fingers)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100759","type":"entry-dictionary","title":"Clubbing of fingers"},{"container-title":"HP:0100758","author":[{"family":"A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100758","type":"entry-dictionary","title":"Gangrene"},{"container-title":"HP:0100761","author":[{"family":"Visceral angiomatosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100761","type":"entry-dictionary","title":"Visceral angiomatosis"},{"container-title":"HP:0002457","author":[{"family":"abnormal head movements"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002457","type":"entry-dictionary","title":"Abnormal head movements"},{"container-title":"HP:0100760","author":[{"family":"clubbing of feet"},{"family":"clubbed toes"},{"family":"Terminal broadening of the toes (distal phalanges of the toes)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100760","type":"entry-dictionary","title":"Clubbing of toes"},{"container-title":"HP:0100763","author":[{"family":"lymphatic disease"},{"family":"An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100763","type":"entry-dictionary","title":"Abnormality of the lymphatic system"},{"container-title":"HP:0002459","author":[{"family":"autonomic dysfunction"},{"family":"Dysfunction of the autonomic nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002459","type":"entry-dictionary","title":"Dysautonomia"},{"container-title":"HP:0100762","author":[{"family":"haemobilia"},{"family":"Bleeding into the biliary tree."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100762","type":"entry-dictionary","title":"Hemobilia"},{"container-title":"HP:0002460","author":[{"family":"weakness of distal muscles"},{"family":"distal limb muscle weakness due to peripheral neuropathy"},{"family":"distal muscular weakness"},{"family":"muscle weakness, distal limbs, due to neuronopathy"},{"family":"distal paresis"},{"family":"distal limb weakness"},{"family":"weakness of outermost muscles"},{"family":"Reduced strength of the musculature of the distal extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002460","type":"entry-dictionary","title":"Distal muscle weakness"},{"container-title":"HP:0100765","author":[{"family":"An abnormality of the tonsils."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100765","type":"entry-dictionary","title":"Abnormality of the tonsils"},{"container-title":"HP:0002461","author":[{"family":"Dense calcifications in the cerebellar dentate nucleus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002461","type":"entry-dictionary","title":"Dense calcifications in the cerebellar dentate nucleus"},{"container-title":"HP:0100764","author":[{"family":"Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100764","type":"entry-dictionary","title":"Lymphangioma"},{"container-title":"HP:0100767","author":[{"family":"placental issue"},{"family":"An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100767","type":"entry-dictionary","title":"Abnormality of the placenta"},{"container-title":"HP:0002463","author":[{"family":"language impairment"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002463","type":"entry-dictionary","title":"Language impairment"},{"container-title":"HP:0100766","author":[{"family":"abnormality of the lymphatic vessels"},{"family":"A structural anomaly of the vessel that contains or conveys lymph fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100766","type":"entry-dictionary","title":"Abnormal lymphatic vessel morphology"},{"container-title":"HP:0002464","author":[{"family":"rigid dysarthria"},{"family":"A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002464","type":"entry-dictionary","title":"Spastic dysarthria"},{"container-title":"HP:0100769","author":[{"family":"Synovitis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100769","type":"entry-dictionary","title":"Synovitis"},{"container-title":"HP:0002465","author":[{"family":"problems speaking"},{"family":"difficulty speaking"},{"family":"poor speech"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002465","type":"entry-dictionary","title":"Poor speech"},{"container-title":"HP:0100768","author":[{"family":"A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100768","type":"entry-dictionary","title":"Choriocarcinoma"},{"container-title":"HP:0100771","author":[{"family":"intestinal hypoperistalsis"},{"family":"Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100771","type":"entry-dictionary","title":"Hypoperistalsis"},{"container-title":"HP:0100770","author":[{"family":"stomach churning"},{"family":"Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100770","type":"entry-dictionary","title":"Hyperperistalsis"},{"container-title":"HP:0100773","author":[{"family":"cartilage destruction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100773","type":"entry-dictionary","title":"Cartilage destruction"},{"container-title":"HP:0002470","author":[{"family":"Nonprogressive cerebellar ataxia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002470","type":"entry-dictionary","title":"Nonprogressive cerebellar ataxia"},{"container-title":"HP:0100775","author":[{"family":"A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100775","type":"entry-dictionary","title":"Dural ectasia"},{"container-title":"HP:0100774","author":[{"family":"bone hypertrophy"},{"family":"bone overgrowth"},{"family":"Excessive growth or abnormal thickening of bone tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100774","type":"entry-dictionary","title":"Hyperostosis"},{"container-title":"HP:0002472","author":[{"family":"decreased volume of cerebral cortex"},{"family":"Reduced size of the cerebral cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002472","type":"entry-dictionary","title":"Small cerebral cortex"},{"container-title":"HP:0100777","author":[{"family":"An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100777","type":"entry-dictionary","title":"Exostoses"},{"container-title":"HP:0100776","author":[{"family":"recurrent sore throat"},{"family":"pharyngitis, recurrent"},{"family":"An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100776","type":"entry-dictionary","title":"Recurrent pharyngitis"},{"container-title":"HP:0002474","author":[{"family":"deficit in expressive language"},{"family":"communication delay"},{"family":"A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002474","type":"entry-dictionary","title":"Expressive language delay"},{"container-title":"HP:0100779","author":[{"family":"A rare birth defect in women where the urethra and vagina both open into a common channel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100779","type":"entry-dictionary","title":"Urogenital sinus anomaly"},{"container-title":"HP:0002475","author":[{"family":"meningomyelocele"},{"family":"spina bifida cystica"},{"family":"Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002475","type":"entry-dictionary","title":"Myelomeningocele"},{"container-title":"HP:0100778","author":[{"family":"cryoprecipitable immune complexes"},{"family":"Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100778","type":"entry-dictionary","title":"Cryoglobulinemia"},{"container-title":"HP:0002476","author":[{"family":"primitive reflexes"},{"family":"The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002476","type":"entry-dictionary","title":"Primitive reflex"},{"container-title":"HP:0100781","author":[{"family":"An anomaly of the sacroiliac joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100781","type":"entry-dictionary","title":"Abnormality of the sacroiliac joint"},{"container-title":"HP:0100780","author":[{"family":"A hamartoma (disordered proliferation of mature tissues) of the conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100780","type":"entry-dictionary","title":"Conjunctival hamartoma"},{"container-title":"HP:0002478","author":[{"family":"progressive spastic quadriparesis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002478","type":"entry-dictionary","title":"Progressive spastic quadriplegia"},{"container-title":"HP:0100783","author":[{"family":"absent breast"},{"family":"mammary gland aplasia"},{"family":"congenital absence of breast"},{"family":"Failure to develop and congenital absence of the breast."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100783","type":"entry-dictionary","title":"Breast aplasia"},{"container-title":"HP:0002480","author":[{"family":"Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002480","type":"entry-dictionary","title":"Hepatic encephalopathy"},{"container-title":"HP:0100785","author":[{"family":"fragmented sleep"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100785","type":"entry-dictionary","title":"Insomnia"},{"container-title":"HP:0100784","author":[{"family":"Peripheral arteriovenous fistula"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100784","type":"entry-dictionary","title":"Peripheral arteriovenous fistula"},{"container-title":"HP:0100787","author":[{"family":"Prostate neoplasm"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100787","type":"entry-dictionary","title":"Prostate neoplasm"},{"container-title":"HP:0002483","author":[{"family":"Bulbar signs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002483","type":"entry-dictionary","title":"Bulbar signs"},{"container-title":"HP:0100786","author":[{"family":"excessive sleepiness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100786","type":"entry-dictionary","title":"Hypersomnia"},{"container-title":"HP:0100789","author":[{"family":"palate exostoses"},{"family":"maxillary torus"},{"family":"palatal torus"},{"family":"prominent midpalatal ridge"},{"family":"palatal tori"},{"family":"A bony protrusion present on the midline of the hard palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100789","type":"entry-dictionary","title":"Torus palatinus"},{"container-title":"HP:0100788","author":[{"family":"fusion of upper and lower lips"},{"family":"adhesion of upper and lower lips"},{"family":"fused lips"},{"family":"Lack of separation of the upper and lower lips."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100788","type":"entry-dictionary","title":"Fused lips"},{"container-title":"HP:0002486","author":[{"family":"delayed relaxation of muscle fibers after contraction"},{"family":"An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002486","type":"entry-dictionary","title":"Myotonia"},{"container-title":"HP:0002487","author":[{"family":"hyperkinesia"},{"family":"muscle spasms"},{"family":"Motor hyperactivity with excessive movement of muscles of the body as a whole."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002487","type":"entry-dictionary","title":"Hyperkinesis"},{"container-title":"HP:0100790","author":[{"family":"hernias"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100790","type":"entry-dictionary","title":"Hernia"},{"container-title":"HP:0002488","author":[{"family":"acute leukemias"},{"family":"acute blood cancer"},{"family":"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002488","type":"entry-dictionary","title":"Acute leukemia"},{"container-title":"HP:0100792","author":[{"family":"nikolsky's sign"},{"family":"The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100792","type":"entry-dictionary","title":"Acantholysis"},{"container-title":"HP:0002490","author":[{"family":"increased csf lactic acid"},{"family":"increased cerebrospinal fluid lactate"},{"family":"Increased concentration of lactate in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002490","type":"entry-dictionary","title":"Increased CSF lactate"},{"container-title":"HP:0100795","author":[{"family":"abnormally straight spine"},{"family":"The absence of the normal curvature of the vertebral column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100795","type":"entry-dictionary","title":"Abnormally straight spine"},{"container-title":"HP:0002491","author":[{"family":"increased tone of facial muscles"},{"family":"spasticity of the facial muscles"},{"family":"increased stiffness of facial muscles"},{"family":"Spasticity of one or more muscles innervated by the facial nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002491","type":"entry-dictionary","title":"Spasticity of facial muscles"},{"container-title":"HP:0002492","author":[{"family":"involvement of the corticospinal pathways"},{"family":"Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002492","type":"entry-dictionary","title":"Abnormality of the corticospinal tract"},{"container-title":"HP:0100797","author":[{"family":"abnormal toenail development"},{"family":"dysplastic toenails"},{"family":"An abnormality of the development of the toenails."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100797","type":"entry-dictionary","title":"Toenail dysplasia"},{"container-title":"HP:0002493","author":[{"family":"pyramidal tract dysfunction"},{"family":"corticospinal tract dysfunction"},{"family":"A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements.nDysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002493","type":"entry-dictionary","title":"Upper motor neuron dysfunction"},{"container-title":"HP:0100796","author":[{"family":"inflammation of testicles"},{"family":"Testicular inflammation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100796","type":"entry-dictionary","title":"Orchitis"},{"container-title":"HP:0002494","author":[{"family":"abnormal rem sleep"},{"family":"Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002494","type":"entry-dictionary","title":"Abnormal rapid eye movement sleep"},{"container-title":"HP:0100799","author":[{"family":"middle ear tumor"},{"family":"neoplasia of the middle ear"},{"family":"A tumor (abnormal growth of tissue) of the middle ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100799","type":"entry-dictionary","title":"Neoplasm of the middle ear"},{"container-title":"HP:0002495","author":[{"family":"decreased vibratory sense"},{"family":"impaired vibratory sense"},{"family":"diminished vibratory sense"},{"family":"decreased vibration sense"},{"family":"impaired vibratory sensation"},{"family":"A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002495","type":"entry-dictionary","title":"Impaired vibratory sensation"},{"container-title":"HP:0100798","author":[{"family":"dysplastic fingernails"},{"family":"abnormal fingernail development"},{"family":"An abnormality of the development of the fingernails."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100798","type":"entry-dictionary","title":"Fingernail dysplasia"},{"container-title":"HP:0100801","author":[{"family":"absent pancreas"},{"family":"Aplasia of the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100801","type":"entry-dictionary","title":"Pancreatic aplasia"},{"container-title":"HP:0002497","author":[{"family":"Spastic ataxia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002497","type":"entry-dictionary","title":"Spastic ataxia"},{"container-title":"HP:0100800","author":[{"family":"absent\/small pancreas"},{"family":"absent\/underdeveloped pancreas"},{"family":"A congenital underdevelopment (aplasia or hypoplasia) of the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100800","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the pancreas"},{"container-title":"HP:0100803","author":[{"family":"An abnormality of the region around the nails of the fingers or toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100803","type":"entry-dictionary","title":"Abnormality of the periungual region"},{"container-title":"HP:0100802","author":[{"family":"gastric ectopia"},{"family":"abnormal stomach location"},{"family":"gastric malposition"},{"family":"Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100802","type":"entry-dictionary","title":"Malposition of the stomach"},{"container-title":"HP:0002500","author":[{"family":"cerebral white matter abnormalities"},{"family":"white matter alterations"},{"family":"cortical white matter abnormalities seen on mri"},{"family":"abnormality of subcortical white matter"},{"family":"leukoaraiosis"},{"family":"An abnormality of the cerebral white matter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002500","type":"entry-dictionary","title":"Abnormality of the cerebral white matter"},{"container-title":"HP:0002501","author":[{"family":"Spasticity of pharyngeal muscles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002501","type":"entry-dictionary","title":"Spasticity of pharyngeal muscles"},{"container-title":"HP:0100804","author":[{"family":"periungual fibroma"},{"family":"koenen tumor"},{"family":"parungual fibromas"},{"family":"koenen's tumor"},{"family":"Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold ) or subungual (originating under the nail plate)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100804","type":"entry-dictionary","title":"Ungual fibroma"},{"container-title":"HP:0100807","author":[{"family":"long fingers"},{"family":"The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100807","type":"entry-dictionary","title":"Long fingers"},{"container-title":"HP:0002503","author":[{"family":"spinocerebellar degeneration"},{"family":"degeneration of the spinocerebellar tracts"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002503","type":"entry-dictionary","title":"Spinocerebellar tract degeneration"},{"container-title":"HP:0100806","author":[{"family":"Systemic inflammatory response to infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100806","type":"entry-dictionary","title":"Sepsis"},{"container-title":"HP:0002504","author":[{"family":"Deposition of calcium salts within small blood vessels of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002504","type":"entry-dictionary","title":"Calcification of the small brain vessels"},{"container-title":"HP:0100809","author":[{"family":"scalp hypersensitivity"},{"family":"allodynia of scalp"},{"family":"scalp pain"},{"family":"scalp tenderness"},{"family":"Pain or discomfort of the scalp elicited by palpation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100809","type":"entry-dictionary","title":"Scalp tenderness"},{"container-title":"HP:0002505","author":[{"family":"progressive inability to walk"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002505","type":"entry-dictionary","title":"Progressive inability to walk"},{"container-title":"HP:0100808","author":[{"family":"stomach diverticulum"},{"family":"An outpouching of the gastric wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100808","type":"entry-dictionary","title":"Gastric diverticulum"},{"container-title":"HP:0002506","author":[{"family":"cerebral atrophy, diffuse"},{"family":"Diffuse unlocalised atrophy affecting the cerebrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002506","type":"entry-dictionary","title":"Diffuse cerebral atrophy"},{"container-title":"HP:0100811","author":[{"family":"absent\/small colon"},{"family":"absent\/underdeveloped colon"},{"family":"Congenital absence or underdevelopment of the colon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100811","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the colon"},{"container-title":"HP:0002507","author":[{"family":"A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002507","type":"entry-dictionary","title":"Semilobar holoprosencephaly"},{"container-title":"HP:0100810","author":[{"family":"pointed ear"},{"family":"spock's ear"},{"family":"elfin ear"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100810","type":"entry-dictionary","title":"Pointed helix"},{"container-title":"HP:0002508","author":[{"family":"brainstem hypoplasia\/dysplasia"},{"family":"malformation of brainstem structures"},{"family":"A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002508","type":"entry-dictionary","title":"Brainstem dysplasia"},{"container-title":"HP:0100813","author":[{"family":"spermatic cord torsion"},{"family":"Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100813","type":"entry-dictionary","title":"Testicular torsion"},{"container-title":"HP:0002509","author":[{"family":"Limb hypertonia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002509","type":"entry-dictionary","title":"Limb hypertonia"},{"container-title":"HP:0100812","author":[{"family":"foetor ex ore"},{"family":"bad breath"},{"family":"Noticeably unpleasant odors exhaled in breathing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100812","type":"entry-dictionary","title":"Halitosis"},{"container-title":"HP:0002510","author":[{"family":"spastic quadriplegia"},{"family":"Spastic paralysis affecting all four limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002510","type":"entry-dictionary","title":"Spastic tetraplegia"},{"container-title":"HP:0002511","author":[{"family":"late-onset form of familial alzheimer disease"},{"family":"A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002511","type":"entry-dictionary","title":"Alzheimer disease"},{"container-title":"HP:0100814","author":[{"family":"mongolian spot"},{"family":"congenital dermal melanocytosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100814","type":"entry-dictionary","title":"Blue nevus"},{"container-title":"HP:0002512","author":[{"family":"Brain stem compression"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002512","type":"entry-dictionary","title":"Brain stem compression"},{"container-title":"HP:0100817","author":[{"family":"hypertension due to renal artery hyperplasia"},{"family":"The presence of hypertension related to stenosis of the renal artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100817","type":"entry-dictionary","title":"Renovascular hypertension"},{"container-title":"HP:0100816","author":[{"family":"darkening of skin of the lips"},{"family":"increased pigmentation on the lips"},{"family":"hyperpigmentation of lip vermillion"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100816","type":"entry-dictionary","title":"Lip hyperpigmentation"},{"container-title":"HP:0002514","author":[{"family":"intracerebral calcifications"},{"family":"intracranial calcifications"},{"family":"brain calcification"},{"family":"The presence of calcium deposition within brain structures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002514","type":"entry-dictionary","title":"Cerebral calcification"},{"container-title":"HP:0100819","author":[{"family":"An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100819","type":"entry-dictionary","title":"Intestinal fistula"},{"container-title":"HP:0002515","author":[{"family":"'waddling' gait"},{"family":"waddling walk"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002515","type":"entry-dictionary","title":"Waddling gait"},{"container-title":"HP:0100818","author":[{"family":"long rib cage"},{"family":"Increased inferior to superior extent of the thorax."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100818","type":"entry-dictionary","title":"Long thorax"},{"container-title":"HP:0002516","author":[{"family":"intracranial pressure elevation"},{"family":"intracranial hypertension"},{"family":"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002516","type":"entry-dictionary","title":"Increased intracranial pressure"},{"container-title":"HP:0100821","author":[{"family":"The prolapse of the female urethra into the vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100821","type":"entry-dictionary","title":"Urethrocele"},{"container-title":"HP:0100820","author":[{"family":"Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100820","type":"entry-dictionary","title":"Glomerulopathy"},{"container-title":"HP:0002518","author":[{"family":"periventricular white matter abnormalities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002518","type":"entry-dictionary","title":"Abnormality of the periventricular white matter"},{"container-title":"HP:0100823","author":[{"family":"Genital hernia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100823","type":"entry-dictionary","title":"Genital hernia"},{"container-title":"HP:0002519","author":[{"family":"Hypnagogic hallucinations"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002519","type":"entry-dictionary","title":"Hypnagogic hallucinations"},{"container-title":"HP:0100822","author":[{"family":"A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100822","type":"entry-dictionary","title":"Rectocele"},{"container-title":"HP:0100825","author":[{"family":"red and sore lips"},{"family":"inflammation of the lips"},{"family":"Inflammation of the lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100825","type":"entry-dictionary","title":"Cheilitis"},{"container-title":"HP:0002521","author":[{"family":"hypsarrhythmia by eeg"},{"family":"Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002521","type":"entry-dictionary","title":"Hypsarrhythmia"},{"container-title":"HP:0002522","author":[{"family":"areflexia of the lower limbs"},{"family":"absent lower limb tendon reflexes"},{"family":"areflexia in lower limbs"},{"family":"areflexia, lower limbs"},{"family":"Inability to elicit tendon reflexes in the lower limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002522","type":"entry-dictionary","title":"Areflexia of lower limbs"},{"container-title":"HP:0100827","author":[{"family":"high lymphocyte count"},{"family":"Increase in the number or proportion of lymphocytes in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100827","type":"entry-dictionary","title":"Lymphocytosis"},{"container-title":"HP:0100826","author":[{"family":"nail tumor"},{"family":"A tumor (abnormal growth of tissue) of the nail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100826","type":"entry-dictionary","title":"Neoplasm of the nail"},{"container-title":"HP:0002524","author":[{"family":"A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002524","type":"entry-dictionary","title":"Cataplexy"},{"container-title":"HP:0100829","author":[{"family":"galactorrhoea"},{"family":"spontaneous milk flow from breast"},{"family":"Spontaneous flow of milk from the breast, unassociated with childbirth or nursing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100829","type":"entry-dictionary","title":"Galactorrhea"},{"container-title":"HP:0100828","author":[{"family":"increase in t cell number"},{"family":"An abnormal increase in the total number of T cells detected in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100828","type":"entry-dictionary","title":"Increase in T cell count"},{"container-title":"HP:0002526","author":[{"family":"Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002526","type":"entry-dictionary","title":"Deficit in nonword repetition"},{"container-title":"HP:0100831","author":[{"family":"abnormality of vitamin k metabolism"},{"family":"Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100831","type":"entry-dictionary","title":"Abnormality of vitamin K metabolism"},{"container-title":"HP:0002527","author":[{"family":"falls"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002527","type":"entry-dictionary","title":"Falls"},{"container-title":"HP:0100830","author":[{"family":"round ear"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100830","type":"entry-dictionary","title":"Round ear"},{"container-title":"HP:0002528","author":[{"family":"Granulovacuolar degeneration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002528","type":"entry-dictionary","title":"Granulovacuolar degeneration"},{"container-title":"HP:0100833","author":[{"family":"small intestine tumor"},{"family":"The presence of a neoplasm of the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100833","type":"entry-dictionary","title":"Neoplasm of the small intestine"},{"container-title":"HP:0002529","author":[{"family":"neuronal loss"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002529","type":"entry-dictionary","title":"Neuronal loss in central nervous system"},{"container-title":"HP:0100832","author":[{"family":"myodesopsia"},{"family":"mouches volantes"},{"family":"vitreous condensations"},{"family":"spots in front of eyes"},{"family":"flitting flies"},{"family":"vitreous debris"},{"family":"vitreous veils"},{"family":"eye floaters"},{"family":"myodeopsia"},{"family":"vitreous opacities"},{"family":"Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100832","type":"entry-dictionary","title":"Vitreous floaters"},{"container-title":"HP:0002530","author":[{"family":"A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002530","type":"entry-dictionary","title":"Axial dystonia"},{"container-title":"HP:0100835","author":[{"family":"Benign neoplasm of the central nervous system"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100835","type":"entry-dictionary","title":"Benign neoplasm of the central nervous system"},{"container-title":"HP:0100834","author":[{"family":"large intestine tumor"},{"family":"The presence of a neoplasm of the large intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100834","type":"entry-dictionary","title":"Neoplasm of the large intestine"},{"container-title":"HP:0100837","author":[{"family":"vermiculata atrophoderma"},{"family":"Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100837","type":"entry-dictionary","title":"Atrophodermia vermiculata"},{"container-title":"HP:0002533","author":[{"family":"Involuntary flexion or extension of the arms and legs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002533","type":"entry-dictionary","title":"Abnormal posturing"},{"container-title":"HP:0100836","author":[{"family":"A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100836","type":"entry-dictionary","title":"Malignant neoplasm of the central nervous system"},{"container-title":"HP:0100839","author":[{"family":"failed liver development"},{"family":"liver agenesis"},{"family":"Absence of the liver owing to a failure of the liver to develop."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100839","type":"entry-dictionary","title":"Hepatic agenesis"},{"container-title":"HP:0100838","author":[{"family":"An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100838","type":"entry-dictionary","title":"Recurrent cutaneous abscess formation"},{"container-title":"HP:0002536","author":[{"family":"cerebral gyral anomalies"},{"family":"abnormal gyration"},{"family":"An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002536","type":"entry-dictionary","title":"Abnormal cortical gyration"},{"container-title":"HP:0100841","author":[{"family":"A developmental anomaly wtih a small tubular or saccular midline stomach."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100841","type":"entry-dictionary","title":"Microgastria"},{"container-title":"HP:0100840","author":[{"family":"lack of eyebrow"},{"family":"hypotrophic eyebrow"},{"family":"absence of eyebrow"},{"family":"sparse to absent eyebrows"},{"family":"sparse\/absent eyebrows"},{"family":"missing eyebrow"},{"family":"agenesis of eyebrow"},{"family":"sparse or absent eyebrows"},{"family":"Absence or underdevelopment of the eyebrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100840","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the eyebrow"},{"container-title":"HP:0002538","author":[{"family":"An abnormality of the cerebral cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002538","type":"entry-dictionary","title":"Abnormality of the cerebral cortex"},{"container-title":"HP:0002539","author":[{"family":"neocortical dysplasia"},{"family":"The presence of developmental dysplasia of the cerebral cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002539","type":"entry-dictionary","title":"Cortical dysplasia"},{"container-title":"HP:0100842","author":[{"family":"de morsier syndrome"},{"family":"Underdevelopment of the optic nerve and absence of the septum pellucidum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100842","type":"entry-dictionary","title":"Septo-optic dysplasia"},{"container-title":"HP:0002540","author":[{"family":"non-ambulatory"},{"family":"inability to walk"},{"family":"Incapability to ambulate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002540","type":"entry-dictionary","title":"Inability to walk"},{"container-title":"HP:0100845","author":[{"family":"anaphylaxis"},{"family":"An acute hypersensitivity reaction due to exposure to a previously encountered antigen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100845","type":"entry-dictionary","title":"Anaphylactic shock"},{"container-title":"HP:0100844","author":[{"family":"Pancreatic fistula"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100844","type":"entry-dictionary","title":"Pancreatic fistula"},{"container-title":"HP:0002542","author":[{"family":"olivopontocerebellar degeneration"},{"family":"Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002542","type":"entry-dictionary","title":"Olivopontocerebellar atrophy"},{"container-title":"HP:0100847","author":[{"family":"pustulosis of palms and soles"},{"family":"pustulosis palmaris et plantaris"},{"family":"palmoplantar pustules"},{"family":"A chronic, relapsing, pustular eruption that is localized to the palms and soles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100847","type":"entry-dictionary","title":"Palmoplantar pustulosis"},{"container-title":"HP:0002544","author":[{"family":"A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002544","type":"entry-dictionary","title":"Retrocollis"},{"container-title":"HP:0100849","author":[{"family":"scrotum tumor"},{"family":"neoplasia of the scrotum"},{"family":"A tumor (abnormal growth of tissue) of the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100849","type":"entry-dictionary","title":"Neoplasm of the scrotum"},{"container-title":"HP:0002545","author":[{"family":"Patchy loss of myelin from nerve fibers in the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002545","type":"entry-dictionary","title":"Patchy demyelination of subcortical white matter"},{"container-title":"HP:0100848","author":[{"family":"neoplasia of the male external genitalia"},{"family":"A tumor (abnormal growth of tissue) of the male external genitalia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100848","type":"entry-dictionary","title":"Neoplasm of the male external genitalia"},{"container-title":"HP:0002546","author":[{"family":"incomprehensible speech"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002546","type":"entry-dictionary","title":"Incomprehensible speech"},{"container-title":"HP:0100851","author":[{"family":"abnormal emotion\/affect behaviour"},{"family":"An abnormality of emotional behaviour."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100851","type":"entry-dictionary","title":"Abnormal emotion\/affect behavior"},{"container-title":"HP:0100850","author":[{"family":"neoplasia of the penis"},{"family":"penis tumor"},{"family":"A tumor (abnormal growth of tissue) of the penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100850","type":"entry-dictionary","title":"Neoplasm of the penis"},{"container-title":"HP:0002548","author":[{"family":"favorable response to levodopa"},{"family":"Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002548","type":"entry-dictionary","title":"Parkinsonism with favorable response to dopaminergic medication"},{"container-title":"HP:0100853","author":[{"family":"hypoplastic areolae"},{"family":"Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100853","type":"entry-dictionary","title":"Hypoplastic areola"},{"container-title":"HP:0002549","author":[{"family":"Deficit in phonologic short-term memory"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002549","type":"entry-dictionary","title":"Deficit in phonologic short-term memory"},{"container-title":"HP:0100852","author":[{"family":"An abnormality of fear\/anxiety-related behavior, which may relate to either abnormally reduced fear\/anxiety-related response or increased fear\/anxiety-related response."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100852","type":"entry-dictionary","title":"Abnormal fear\/anxiety-related behavior"},{"container-title":"HP:0002550","author":[{"family":"absent facial hair"},{"family":"Absence of facial hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002550","type":"entry-dictionary","title":"Absent facial hair"},{"container-title":"HP:0100855","author":[{"family":"underdeveloped triceps"},{"family":"small triceps"},{"family":"Hypoplasia of the triceps muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100855","type":"entry-dictionary","title":"Triceps hypoplasia"},{"container-title":"HP:0100854","author":[{"family":"absent musculature"},{"family":"Absence of the musculature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100854","type":"entry-dictionary","title":"Aplasia of the musculature"},{"container-title":"HP:0002552","author":[{"family":"generalized trichodysplasia"},{"family":"Developmental dysplasia of the hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002552","type":"entry-dictionary","title":"Trichodysplasia"},{"container-title":"HP:0100857","author":[{"family":"An abnormally flat sella turcica."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100857","type":"entry-dictionary","title":"Flat sella turcica"},{"container-title":"HP:0002553","author":[{"family":"high arched eyebrows"},{"family":"high-arched eyebrows"},{"family":"broad, arched eyebrows"},{"family":"highly arched eyebrow"},{"family":"high, rounded eyebrows"},{"family":"bowed and upward slanting eyebrows"},{"family":"thick, flared eyebrows"},{"family":"Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U 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sac-like dilatation in the wall of the celiac artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100858","type":"entry-dictionary","title":"Dilatation of celiac artery"},{"container-title":"HP:0100861","author":[{"family":"Increase in bone density of the vertebral body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100861","type":"entry-dictionary","title":"Vertebral body sclerosis"},{"container-title":"HP:0002557","author":[{"family":"small nipples"},{"family":"nipple hypoplasia"},{"family":"Underdevelopment of the nipple."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002557","type":"entry-dictionary","title":"Hypoplastic nipples"},{"container-title":"HP:0100860","author":[{"family":"inferior mesenteric artery aneurysm"},{"family":"Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery ."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100860","type":"entry-dictionary","title":"Dilatation of Inferior mesenteric 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ischia"},{"container-title":"HP:0002561","author":[{"family":"absent nipples"},{"family":"athelia"},{"family":"Congenital failure to develop, and absence of, the nipple."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002561","type":"entry-dictionary","title":"Absent nipple"},{"container-title":"HP:0100864","author":[{"family":"hypoplasia of the femoral neck"},{"family":"hypoplastic femoral neck"},{"family":"short femoral necks"},{"family":"short neck of thighbone"},{"family":"An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100864","type":"entry-dictionary","title":"Short femoral neck"},{"container-title":"HP:0002562","author":[{"family":"low-set nipples"},{"family":"Placement of the nipples at a lower than normal location."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002562","type":"entry-dictionary","title":"Low-set 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hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100869","type":"entry-dictionary","title":"Palmar telangiectasia"},{"container-title":"HP:0002566","author":[{"family":"gut malrotation"},{"family":"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002566","type":"entry-dictionary","title":"Intestinal malrotation"},{"container-title":"HP:0100871","author":[{"family":"abnormality of the palm"},{"family":"An abnormality of the palm, that is, of the front of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100871","type":"entry-dictionary","title":"Abnormality of the palm"},{"container-title":"HP:0100870","author":[{"family":"plantar teleangiectasia"},{"family":"telangiectases of soles"},{"family":"teleangiectases of soles"},{"family":"Telangiectases (small dilated blood vessels) located on the skin of sole of foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100870","type":"entry-dictionary","title":"Plantar telangiectasia"},{"container-title":"HP:0100872","author":[{"family":"minor feet anomalies"},{"family":"An abnormality of the plantar part of foot, that is of the soles of the feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100872","type":"entry-dictionary","title":"Abnormality of the plantar skin of foot"},{"container-title":"HP:0002570","author":[{"family":"Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002570","type":"entry-dictionary","title":"Steatorrhea"},{"container-title":"HP:0100875","author":[{"family":"hypertrophy of half of the tongue"},{"family":"hemiglossal hypertrophy"},{"family":"hyperplasia of half of the tongue"},{"family":"increased size of half of the tongue"},{"family":"hemiglossal hyperplasia"},{"family":"large half of tongue"},{"family":"Increased length and width of one half of the tounge."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100875","type":"entry-dictionary","title":"Hemimacroglossia"},{"container-title":"HP:0002571","author":[{"family":"achalasia of the esophagus"},{"family":"A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002571","type":"entry-dictionary","title":"Achalasia"},{"container-title":"HP:0100874","author":[{"family":"increased hair density"},{"family":"increased follicular density"},{"family":"thick hair"},{"family":"Increased density of hairs, i.e., and elevated number of hairs per unit area."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100874","type":"entry-dictionary","title":"Thick hair"},{"container-title":"HP:0002572","author":[{"family":"episodic vomiting"},{"family":"frequent vomiting"},{"family":"Paroxysmal, recurrent episodes of vomiting."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002572","type":"entry-dictionary","title":"Episodic vomiting"},{"container-title":"HP:0100877","author":[{"family":"renal pelvic diverticulum"},{"family":"caliceal diverticulum"},{"family":"Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100877","type":"entry-dictionary","title":"Renal diverticulum"},{"container-title":"HP:0002573","author":[{"family":"recurrent rectal bleeding"},{"family":"The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002573","type":"entry-dictionary","title":"Hematochezia"},{"container-title":"HP:0100876","author":[{"family":"crease in skin under the eye"},{"family":"groove in skin under the eye"},{"family":"underorbital skin creases"},{"family":"infraorbital creases"},{"family":"Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100876","type":"entry-dictionary","title":"Infra-orbital crease"},{"container-title":"HP:0002574","author":[{"family":"intermittent abdominal pain"},{"family":"An intermittent form of abdominal pain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002574","type":"entry-dictionary","title":"Episodic abdominal pain"},{"container-title":"HP:0100879","author":[{"family":"enlarged ovaries"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100879","type":"entry-dictionary","title":"Enlarged ovaries"},{"container-title":"HP:0002575","author":[{"family":"An abnormal connection (fistula) between the esophagus and the trachea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002575","type":"entry-dictionary","title":"Tracheoesophageal fistula"},{"container-title":"HP:0100878","author":[{"family":"enlarged uterus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100878","type":"entry-dictionary","title":"Enlarged uterus"},{"container-title":"HP:0002576","author":[{"family":"An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002576","type":"entry-dictionary","title":"Intussusception"},{"container-title":"HP:0100881","author":[{"family":"Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100881","type":"entry-dictionary","title":"Congenital mesoblastic nephroma"},{"container-title":"HP:0002577","author":[{"family":"An abnormality of the stomach."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002577","type":"entry-dictionary","title":"Abnormality of the stomach"},{"container-title":"HP:0100880","author":[{"family":"Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100880","type":"entry-dictionary","title":"Nephrogenic rest"},{"container-title":"HP:0002578","author":[{"family":"delayed gastric emptying"},{"family":"Decreased strength of the Muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002578","type":"entry-dictionary","title":"Gastroparesis"},{"container-title":"HP:0100883","author":[{"family":"Hamartoma-like growth in the placenta consisting of blood vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100883","type":"entry-dictionary","title":"Chorangioma"},{"container-title":"HP:0002579","author":[{"family":"Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002579","type":"entry-dictionary","title":"Gastrointestinal dysmotility"},{"container-title":"HP:0100882","author":[{"family":"fibrous hamartoma of infancy"},{"family":"A rare, benign soft tissue tumor that typically occurs within the first two years of life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100882","type":"entry-dictionary","title":"Fibrous hamartoma"},{"container-title":"HP:0002580","author":[{"family":"Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002580","type":"entry-dictionary","title":"Volvulus"},{"container-title":"HP:0100885","author":[{"family":"lateral marginal vein of servelle"},{"family":"Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100885","type":"entry-dictionary","title":"Lateral venous anomaly"},{"container-title":"HP:0100884","author":[{"family":"A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100884","type":"entry-dictionary","title":"Compensatory scoliosis"},{"container-title":"HP:0002582","author":[{"family":"A form of chronic gastritis associated with atrophic gastric mucous membrane."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002582","type":"entry-dictionary","title":"Chronic atrophic gastritis"},{"container-title":"HP:0100887","author":[{"family":"eye size difference"},{"family":"abnormality of eyeball size"},{"family":"An abnormality in the size of the ocular globe (eyeball)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100887","type":"entry-dictionary","title":"Abnormality of globe size"},{"container-title":"HP:0002583","author":[{"family":"Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002583","type":"entry-dictionary","title":"Colitis"},{"container-title":"HP:0100886","author":[{"family":"abnormality of eyeball position"},{"family":"abnormality of eyeball location"},{"family":"abnormality of globe position"},{"family":"An abnormality in the placement of the ocular globe (eyeball)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100886","type":"entry-dictionary","title":"Abnormality of globe location"},{"container-title":"HP:0002584","author":[{"family":"intestinal bleeding"},{"family":"intestinal hemorrhage"},{"family":"Bleeding from the intestines."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002584","type":"entry-dictionary","title":"Intestinal bleeding"},{"container-title":"HP:0100889","author":[{"family":"abnormality of the common bile duct"},{"family":"An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100889","type":"entry-dictionary","title":"Abnormality of the ductus choledochus"},{"container-title":"HP:0002585","author":[{"family":"An abnormality of the peritoneum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002585","type":"entry-dictionary","title":"Abnormality of the peritoneum"},{"container-title":"HP:0100888","author":[{"family":"Interdigital loops"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100888","type":"entry-dictionary","title":"Interdigital loops"},{"container-title":"HP:0002586","author":[{"family":"inflammation of the peritoneum"},{"family":"Inflammation of the peritoneum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002586","type":"entry-dictionary","title":"Peritonitis"},{"container-title":"HP:0100891","author":[{"family":"bifid xiphisternum"},{"family":"A cleft of the xiphoid process of the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100891","type":"entry-dictionary","title":"Bifid xiphoid process"},{"container-title":"HP:0002587","author":[{"family":"projectile vomiting"},{"family":"Vomiting that ejects the gastric contents with great force."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002587","type":"entry-dictionary","title":"Projectile vomiting"},{"container-title":"HP:0100890","author":[{"family":"choledochal cyst"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100890","type":"entry-dictionary","title":"Cyst of the ductus choledochus"},{"container-title":"HP:0002588","author":[{"family":"An erosion of the mucous membrane of in a portion of the duodenum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002588","type":"entry-dictionary","title":"Duodenal ulcer"},{"container-title":"HP:0100893","author":[{"family":"prominent xiphisternum"},{"family":"Increased prominence of the xiphoid process of the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100893","type":"entry-dictionary","title":"Prominent xiphoid process"},{"container-title":"HP:0002589","author":[{"family":"Gastrointestinal atresia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002589","type":"entry-dictionary","title":"Gastrointestinal atresia"},{"container-title":"HP:0100892","author":[{"family":"An abnormality of the xiphoid process of the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100892","type":"entry-dictionary","title":"Abnormality of the xiphoid process"},{"container-title":"HP:0002590","author":[{"family":"Paralytic ileus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002590","type":"entry-dictionary","title":"Paralytic ileus"},{"container-title":"HP:0002591","author":[{"family":"hyperphagia"},{"family":"voracious appetite"},{"family":"increased appetite"},{"family":"A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002591","type":"entry-dictionary","title":"Polyphagia"},{"container-title":"HP:0100894","author":[{"family":"broad xiphisternum"},{"family":"Increased side-to-side width of the xiphoid process of the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100894","type":"entry-dictionary","title":"Broad xiphoid process"},{"container-title":"HP:0002592","author":[{"family":"stomach ulcer"},{"family":"An ulcer, that is, an erosion of an area of the gastric mucous membrane."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002592","type":"entry-dictionary","title":"Gastric ulcer"},{"container-title":"HP:0002593","author":[{"family":"Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002593","type":"entry-dictionary","title":"Intestinal lymphangiectasia"},{"container-title":"HP:0100896","author":[{"family":"multiple rectal polyps"},{"family":"The presence of multiple rectal hyperplastic\/adenomatous polyps."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100896","type":"entry-dictionary","title":"Rectal polyposis"},{"container-title":"HP:0002594","author":[{"family":"underdeveloped pancreas"},{"family":"hypoplastic pancreas"},{"family":"Hypoplasia of the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002594","type":"entry-dictionary","title":"Pancreatic hypoplasia"},{"container-title":"HP:0100899","author":[{"family":"sclerosis of the phalanges of the hand"},{"family":"increased bone density in the finger bone"},{"family":"An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100899","type":"entry-dictionary","title":"Sclerosis of finger phalanx"},{"container-title":"HP:0002595","author":[{"family":"gastrointestinal atony"},{"family":"Acute obstruction of the intestines preventing passage of the contents of the intestines."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002595","type":"entry-dictionary","title":"Ileus"},{"container-title":"HP:0100898","author":[{"family":"Connective tissue nevi are hamartomas in which one or several components of the dermis is altered."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100898","type":"entry-dictionary","title":"Connective tissue nevi"},{"container-title":"HP:0100901","author":[{"family":"increased bone density in the outermost bone of the middle finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100901","type":"entry-dictionary","title":"Sclerosis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0002597","author":[{"family":"abnormality of blood vessels"},{"family":"abnormality of the vasculature"},{"family":"vascular abnormalities"},{"family":"An abnormality of the vasculature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002597","type":"entry-dictionary","title":"Abnormality of the vasculature"},{"container-title":"HP:0100900","author":[{"family":"increased bone density in the outermost bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100900","type":"entry-dictionary","title":"Sclerosis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0100903","author":[{"family":"increased bone density in the outermost little finger bone"},{"family":"increased bone density in the outermost pinkie finger bone"},{"family":"increased bone density in the outermost pinky finger bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100903","type":"entry-dictionary","title":"Sclerosis of the distal phalanx of the 5th finger"},{"container-title":"HP:0002599","author":[{"family":"A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002599","type":"entry-dictionary","title":"Head titubation"},{"container-title":"HP:0100902","author":[{"family":"increased bone density in the outermost bone of the ring finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100902","type":"entry-dictionary","title":"Sclerosis of the distal phalanx of the 4th finger"},{"container-title":"HP:0002600","author":[{"family":"hyporeflexia\/areflexia in lower limbs"},{"family":"hyporeflexia of the lower limbs"},{"family":"hyporeflexia in lower limbs"},{"family":"hyporeflexia, lower limbs"},{"family":"Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002600","type":"entry-dictionary","title":"Hyporeflexia of lower limbs"},{"container-title":"HP:0100905","author":[{"family":"increased bone density in the middle bone of the middle finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100905","type":"entry-dictionary","title":"Sclerosis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0002601","author":[{"family":"Paresis of extensor muscles of the big toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002601","type":"entry-dictionary","title":"Paresis of extensor muscles of the big toe"},{"container-title":"HP:0100904","author":[{"family":"increased bone density in the middle bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100904","type":"entry-dictionary","title":"Sclerosis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0100907","author":[{"family":"increased bone density in the middle bone of the pinkie finger"},{"family":"increased bone density in the middle bone of the little finger"},{"family":"increased bone density in the middle bone of the pinky finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100907","type":"entry-dictionary","title":"Sclerosis of the middle phalanx of the 5th finger"},{"container-title":"HP:0100906","author":[{"family":"increased bone density in the middle bone of the ring finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100906","type":"entry-dictionary","title":"Sclerosis of the middle phalanx of the 4th finger"},{"container-title":"HP:0002604","author":[{"family":"small, enlarged blood vessels near skin"},{"family":"Telangiectasia affecting thegastrointestinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002604","type":"entry-dictionary","title":"Gastrointestinal telangiectasia"},{"container-title":"HP:0100909","author":[{"family":"increased bone density in innermost bone of the middle finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100909","type":"entry-dictionary","title":"Sclerosis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0002605","author":[{"family":"The presence of necrosis affecting the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002605","type":"entry-dictionary","title":"Hepatic necrosis"},{"container-title":"HP:0100908","author":[{"family":"increased bone density in the innermost bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100908","type":"entry-dictionary","title":"Sclerosis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0100911","author":[{"family":"increased bone density in innermost little finger bone"},{"family":"increased bone density in innermost pinkie finger bone"},{"family":"increased bone density in innermost pinky finger bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100911","type":"entry-dictionary","title":"Sclerosis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0002607","author":[{"family":"loss of bowel control"},{"family":"anal incontinence"},{"family":"fecal incontinence"},{"family":"Involuntary fecal soiling in adults and children who have usually already been toilet trained."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002607","type":"entry-dictionary","title":"Bowel incontinence"},{"container-title":"HP:0100910","author":[{"family":"increased bone density in the innermost bone of the ring finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100910","type":"entry-dictionary","title":"Sclerosis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0002608","author":[{"family":"celiac disease"},{"family":"celiac sprue"},{"family":"Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002608","type":"entry-dictionary","title":"Celiac disease"},{"container-title":"HP:0100913","author":[{"family":"increased bone density in the innermost bone of the thumb"},{"family":"An elevation of bone density in the proximal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100913","type":"entry-dictionary","title":"Sclerosis of the proximal phalanx of the thumb"},{"container-title":"HP:0100912","author":[{"family":"increased bone density in the outermost bone of the thumb"},{"family":"An elevation of bone density in the distal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100912","type":"entry-dictionary","title":"Sclerosis of the distal phalanx of the thumb"},{"container-title":"HP:0100915","author":[{"family":"increased bone density in outermost finger bone"},{"family":"sclerosis of the distal phalanges of the hand"},{"family":"An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100915","type":"entry-dictionary","title":"Sclerosis of distal finger phalanx"},{"container-title":"HP:0002611","author":[{"family":"Cholestatic liver disease"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002611","type":"entry-dictionary","title":"Cholestatic liver disease"},{"container-title":"HP:0100914","author":[{"family":"increased bone density in 1st long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100914","type":"entry-dictionary","title":"Sclerosis of the 1st metacarpal"},{"container-title":"HP:0002612","author":[{"family":"The presence of fibrosis of that part of the liver with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002612","type":"entry-dictionary","title":"Congenital hepatic fibrosis"},{"container-title":"HP:0100917","author":[{"family":"sclerosis of the proximal phalanges of the hand"},{"family":"increased bone density in innermost finger bone"},{"family":"An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100917","type":"entry-dictionary","title":"Sclerosis of proximal finger phalanx"},{"container-title":"HP:0002613","author":[{"family":"primary biliary cirrhosis"},{"family":"Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002613","type":"entry-dictionary","title":"Biliary cirrhosis"},{"container-title":"HP:0100916","author":[{"family":"increased bone density in middle finger bone of hand"},{"family":"sclerosis of the middle phalanges of the hand"},{"family":"An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100916","type":"entry-dictionary","title":"Sclerosis of middle finger phalanx"},{"container-title":"HP:0002614","author":[{"family":"A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002614","type":"entry-dictionary","title":"Hepatic periportal necrosis"},{"container-title":"HP:0100919","author":[{"family":"increased bone density in middle finger bone"},{"family":"sclerosis of the phalanges of the 3rd finger"},{"family":"An elevation in bone density in one or more distal phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100919","type":"entry-dictionary","title":"Sclerosis of 3rd finger phalanx"},{"container-title":"HP:0002615","author":[{"family":"arterial hypotension"},{"family":"low blood pressure"},{"family":"Low Blood Pressure, vascular hypotension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002615","type":"entry-dictionary","title":"Hypotension"},{"container-title":"HP:0100918","author":[{"family":"increased bone density in 2nd finger bone"},{"family":"sclerosis of the phalanges of the 2nd finger"},{"family":"An elevation in bone density in one or more distal phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100918","type":"entry-dictionary","title":"Sclerosis of 2nd finger phalanx"},{"container-title":"HP:0002616","author":[{"family":"increased aortic root diameter"},{"family":"aortic root dilatation"},{"family":"An abnormal localized widening (dilatation) of the aortic root."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002616","type":"entry-dictionary","title":"Aortic root aneurysm"},{"container-title":"HP:0100921","author":[{"family":"increased bone density in little finger bone"},{"family":"increased bone density in pinkie finger bone"},{"family":"sclerosis of the phalanges of the 5th finger"},{"family":"increased bone density in pinky finger bone"},{"family":"An elevation in bone density in one or more distal phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100921","type":"entry-dictionary","title":"Sclerosis of 5th finger phalanx"},{"container-title":"HP:0002617","author":[{"family":"aneurysmal dilatation"},{"family":"aneurysmal disease"},{"family":"aneurysms"},{"family":"Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002617","type":"entry-dictionary","title":"Dilatation"},{"container-title":"HP:0100920","author":[{"family":"increased bone density in ring finger bone"},{"family":"sclerosis of the phalanges of the 4th finger"},{"family":"An elevation in bone density in one or more distal phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100920","type":"entry-dictionary","title":"Sclerosis of 4th finger phalanx"},{"container-title":"HP:0100923","author":[{"family":"osteosclerosis of the clavicles"},{"family":"increased bone density in collarbone"},{"family":"An increase in bone density within the clavicle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100923","type":"entry-dictionary","title":"Clavicular sclerosis"},{"container-title":"HP:0002619","author":[{"family":"Enlarged and tortuous veins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002619","type":"entry-dictionary","title":"Varicose veins"},{"container-title":"HP:0100922","author":[{"family":"increased bone density in thumb bone"},{"family":"sclerosis of the phalanges of the thumb"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100922","type":"entry-dictionary","title":"Sclerosis of thumb phalanx"},{"container-title":"HP:0100925","author":[{"family":"sclerosis of bones of the feet"},{"family":"increased bone density in foot bone"},{"family":"An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100925","type":"entry-dictionary","title":"Sclerosis of foot bone"},{"container-title":"HP:0002621","author":[{"family":"atherosclerotic cardiovascular disease"},{"family":"plaque build-up in arteries"},{"family":"A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002621","type":"entry-dictionary","title":"Atherosclerosis"},{"container-title":"HP:0100924","author":[{"family":"sclerosis of the phalanges of the toes"},{"family":"increased bone density in the toe bone"},{"family":"An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100924","type":"entry-dictionary","title":"Sclerosis of toe phalanx"},{"container-title":"HP:0100927","author":[{"family":"increased bone density in 3rd toe bone"},{"family":"sclerosis of the phalanges of the 3rd toe"},{"family":"An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100927","type":"entry-dictionary","title":"Sclerosis of 3rd toe phalanx"},{"container-title":"HP:0002623","author":[{"family":"overriding aortic valve"},{"family":"dextroposition of aorta"},{"family":"An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002623","type":"entry-dictionary","title":"Overriding aorta"},{"container-title":"HP:0100926","author":[{"family":"increased bone density in 2nd toe bone"},{"family":"sclerosis of the phalanges of the 2nd toe"},{"family":"An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100926","type":"entry-dictionary","title":"Sclerosis of 2nd toe phalanx"},{"container-title":"HP:0002624","author":[{"family":"abnormal vein"},{"family":"venous abnormality"},{"family":"An anomaly of vein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002624","type":"entry-dictionary","title":"Abnormal venous morphology"},{"container-title":"HP:0100929","author":[{"family":"increased bone density in pinkie toe bone"},{"family":"increased bone density in little toe bone"},{"family":"increased bone density in pinky toe bone"},{"family":"sclerosis of the phalanges of the 5th toe"},{"family":"An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100929","type":"entry-dictionary","title":"Sclerosis of 5th toe phalanx"},{"container-title":"HP:0002625","author":[{"family":"blood clot in a deep vein"},{"family":"deep vein thrombosis"},{"family":"multiple deep venous thrombosis"},{"family":"Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002625","type":"entry-dictionary","title":"Deep venous thrombosis"},{"container-title":"HP:0100928","author":[{"family":"sclerosis of the phalanges of the 4th toe"},{"family":"increased bone density in 4th toe bone"},{"family":"An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100928","type":"entry-dictionary","title":"Sclerosis of 4th toe phalanx"},{"container-title":"HP:0002626","author":[{"family":"Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002626","type":"entry-dictionary","title":"Venous varicosities of celiac and mesenteric vessels"},{"container-title":"HP:0100931","author":[{"family":"increased bone density in the innermost bone of the 2nd toe"},{"family":"An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100931","type":"entry-dictionary","title":"Sclerosis of the proximal phalanx of the 2nd toe"},{"container-title":"HP:0002627","author":[{"family":"The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002627","type":"entry-dictionary","title":"Right aortic arch with mirror image branching"},{"container-title":"HP:0100930","author":[{"family":"increased bone density in big toe bone"},{"family":"sclerosis of the phalanges of the hallux"},{"family":"An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100930","type":"entry-dictionary","title":"Sclerosis of hallux phalanx"},{"container-title":"HP:0100933","author":[{"family":"increased bone density in the innermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100933","type":"entry-dictionary","title":"Sclerosis of the proximal phalanx of the 4th toe"},{"container-title":"HP:0002629","author":[{"family":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002629","type":"entry-dictionary","title":"Gastrointestinal arteriovenous malformation"},{"container-title":"HP:0100932","author":[{"family":"increased bone density in the innermost bone of the 3rd toe"},{"family":"An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100932","type":"entry-dictionary","title":"Sclerosis of the proximal phalanx of the 3rd toe"},{"container-title":"HP:0002630","author":[{"family":"Abnormality of the absorption of fat from the gastrointestinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002630","type":"entry-dictionary","title":"Fat malabsorption"},{"container-title":"HP:0100935","author":[{"family":"increased bone density in the middle bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100935","type":"entry-dictionary","title":"Sclerosis of the middle phalanx of the 2nd toe"},{"container-title":"HP:0100934","author":[{"family":"increased bone density in the innermost bone of the pinkie toe"},{"family":"increased bone density in the innermost bone of the pinky toe"},{"family":"increased bone density in the innermost bone of the little toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100934","type":"entry-dictionary","title":"Sclerosis of the proximal phalanx of the 5th toe"},{"container-title":"HP:0002632","author":[{"family":"low-to-normal blood pressure"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002632","type":"entry-dictionary","title":"Low-to-normal blood pressure"},{"container-title":"HP:0100937","author":[{"family":"increased bone density in the middle bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100937","type":"entry-dictionary","title":"Sclerosis of the middle phalanx of the 4th toe"},{"container-title":"HP:0002633","author":[{"family":"angiitis"},{"family":"Inflammation of blood vessel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002633","type":"entry-dictionary","title":"Vasculitis"},{"container-title":"HP:0100936","author":[{"family":"increased bone density in the middle bone of the 3rd toe"},{"family":"An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100936","type":"entry-dictionary","title":"Sclerosis of the middle phalanx of the 3rd toe"},{"container-title":"HP:0002634","author":[{"family":"hardened artery wall"},{"family":"Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002634","type":"entry-dictionary","title":"Arteriosclerosis"},{"container-title":"HP:0100939","author":[{"family":"increased bone density in the outermost bone of the 2nd toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100939","type":"entry-dictionary","title":"Sclerosis of the distal phalanx of the 2nd toe"},{"container-title":"HP:0002635","author":[{"family":"atheromatosis"},{"family":"In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. The nature and derivations of the lipid that constitutes the core are discussed in the section on the extracellular matrix at the end of this report. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002635","type":"entry-dictionary","title":"Type IV atherosclerotic lesion"},{"container-title":"HP:0100938","author":[{"family":"increased bone density in the middle bone of the little toe"},{"family":"increased bone density in the middle bone of the pinky toe"},{"family":"increased bone density in the middle bone of the pinkie toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100938","type":"entry-dictionary","title":"Sclerosis of the middle phalanx of the 5th toe"},{"container-title":"HP:0002636","author":[{"family":"aneurysm of an abdominal artery"},{"family":"Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002636","type":"entry-dictionary","title":"Dilatation of an abdominal artery"},{"container-title":"HP:0100941","author":[{"family":"increased bone density in the outermost bone of the 4th toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100941","type":"entry-dictionary","title":"Sclerosis of the distal phalanx of the 4th toe"},{"container-title":"HP:0002637","author":[{"family":"brain ischemia"},{"family":"cerebrovascular ischemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002637","type":"entry-dictionary","title":"Cerebral ischemia"},{"container-title":"HP:0100940","author":[{"family":"increased bone density in the outermost bone of the 3rd toe"},{"family":"An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100940","type":"entry-dictionary","title":"Sclerosis of the distal phalanx of the 3rd toe"},{"container-title":"HP:0002638","author":[{"family":"Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002638","type":"entry-dictionary","title":"Superficial thrombophlebitis"},{"container-title":"HP:0100943","author":[{"family":"increased bone density in the innermost bone of the big toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100943","type":"entry-dictionary","title":"Sclerosis of the proximal phalanx of the hallux"},{"container-title":"HP:0002639","author":[{"family":"Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1\/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002639","type":"entry-dictionary","title":"Budd-Chiari syndrome"},{"container-title":"HP:0100942","author":[{"family":"increased bone density in the outermost bone of the pinkie toe"},{"family":"increased bone density in the outermost bone of the pinky toe"},{"family":"increased bone density in the outermost bone of the little toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100942","type":"entry-dictionary","title":"Sclerosis of the distal phalanx of the 5th toe"},{"container-title":"HP:0002640","author":[{"family":"A type of hypertension associated with pheochromocytoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002640","type":"entry-dictionary","title":"Hypertension associated with pheochromocytoma"},{"container-title":"HP:0100945","author":[{"family":"increased bone density in the 1st long bone of foot"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100945","type":"entry-dictionary","title":"Sclerosis of the 1st metatarsal"},{"container-title":"HP:0002641","author":[{"family":"peripheral blood clot"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002641","type":"entry-dictionary","title":"Peripheral thrombosis"},{"container-title":"HP:0100944","author":[{"family":"increased bone density in the outermost bone of the big toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100944","type":"entry-dictionary","title":"Sclerosis of the distal phalanx of the hallux"},{"container-title":"HP:0002642","author":[{"family":"Arteriovenous fistulas of celiac and mesenteric vessels"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002642","type":"entry-dictionary","title":"Arteriovenous fistulas of celiac and mesenteric vessels"},{"container-title":"HP:0100947","author":[{"family":"increased bone density in middle toe bone"},{"family":"sclerosis of the middle phalanges of the toes"},{"family":"An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100947","type":"entry-dictionary","title":"Sclerosis of middle toe phalanx"},{"container-title":"HP:0002643","author":[{"family":"neonatal respiratory distress"},{"family":"respiratory distress, neonatal"},{"family":"infantile respiratory distress"},{"family":"newborn respiratory distress"},{"family":"Respiratory difficulty as newborn."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002643","type":"entry-dictionary","title":"Neonatal respiratory distress"},{"container-title":"HP:0100946","author":[{"family":"increased bone density in innermost toe bone"},{"family":"sclerosis of the proximal phalanges of the toes"},{"family":"An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100946","type":"entry-dictionary","title":"Sclerosis of proximal toe phalanx"},{"container-title":"HP:0002644","author":[{"family":"abnormal shape of pelvic girdle bone"},{"family":"abnormality of the pelvic girdle"},{"family":"An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002644","type":"entry-dictionary","title":"Abnormality of pelvic girdle bone morphology"},{"container-title":"HP:0002645","author":[{"family":"intrasutural bones"},{"family":"extra bones within cranial sutures"},{"family":"intra sutural bones"},{"family":"islands of bone within cranial sutures"},{"family":"The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002645","type":"entry-dictionary","title":"Wormian bones"},{"container-title":"HP:0100948","author":[{"family":"increased bone density in the outermost bone of the toes"},{"family":"sclerosis of the distal phalanges of the toes"},{"family":"An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100948","type":"entry-dictionary","title":"Sclerosis of distal toe phalanx"},{"container-title":"HP:0100951","author":[{"family":"enlarged basal cistern"},{"family":"enlarged interpeduncular cistern"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100951","type":"entry-dictionary","title":"Enlarged fossa interpeduncularis"},{"container-title":"HP:0002647","author":[{"family":"Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002647","type":"entry-dictionary","title":"Aortic dissection"},{"container-title":"HP:0100950","author":[{"family":"long chain 3 hydroxyacyl coa dehydrogenase deficiency"},{"family":"medium and short-chain l-3-hydroxyacyl-coenzyme a dehydrogenase deficiency"},{"family":"short-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100950","type":"entry-dictionary","title":"Decreased activity of 3-hydroxyacyl-CoA dehydrogenase"},{"container-title":"HP:0002648","author":[{"family":"abnormality of the shape of skull bones"},{"family":"abnormality of cranial bone morphology"},{"family":"abnormality of the shape of calvarium"},{"family":"abnormality of the shape of cranium"},{"family":"abnormally shaped skull"},{"family":"abnormality of skull bone morphology"},{"family":"The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002648","type":"entry-dictionary","title":"Abnormality of calvarial morphology"},{"container-title":"HP:0100953","author":[{"family":"enlarged longitudinal fissure"},{"family":"enlarged great longitudinal fissure"},{"family":"enlarged longitudinal cerebral fissure"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100953","type":"entry-dictionary","title":"Enlarged interhemispheric fissure"},{"container-title":"HP:0100952","author":[{"family":"enlarged sylvian fissure"},{"family":"enlarged lateral sulcus"},{"family":"enlarged lateral fissure"},{"family":"An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100952","type":"entry-dictionary","title":"Enlarged sylvian cistern"},{"container-title":"HP:0002650","author":[{"family":"abnormal curving of the spine"},{"family":"curvature of spine"},{"family":"curved spine"},{"family":"The presence of an abnormal lateral curvature of the spine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002650","type":"entry-dictionary","title":"Scoliosis"},{"container-title":"HP:0100955","author":[{"family":"Giant cell granuloma of mandible"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100955","type":"entry-dictionary","title":"Giant cell granuloma of mandible"},{"container-title":"HP:0002651","author":[{"family":"Spondyloepimetaphyseal dysplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002651","type":"entry-dictionary","title":"Spondyloepimetaphyseal dysplasia"},{"container-title":"HP:0100954","author":[{"family":"Underdevelopment of the operculum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100954","type":"entry-dictionary","title":"Open operculum"},{"container-title":"HP:0002652","author":[{"family":"abnormal skeletal development"},{"family":"A general term describing features characterized by abnormal development of bones and connective tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002652","type":"entry-dictionary","title":"Skeletal dysplasia"},{"container-title":"HP:0100957","author":[{"family":"An abnormality of the medulla of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100957","type":"entry-dictionary","title":"Abnormality of the renal medulla"},{"container-title":"HP:0002653","author":[{"family":"bone pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002653","type":"entry-dictionary","title":"Bone pain"},{"container-title":"HP:0002654","author":[{"family":"Multiple epiphyseal dysplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002654","type":"entry-dictionary","title":"Multiple epiphyseal dysplasia"},{"container-title":"HP:0100959","author":[{"family":"dense metaphyseal lines"},{"family":"transverse metaphyseal bands"},{"family":"Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100959","type":"entry-dictionary","title":"Dense metaphyseal bands"},{"container-title":"HP:0002655","author":[{"family":"spondyloepiphyseal dysplasia tarda"},{"family":"A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002655","type":"entry-dictionary","title":"Spondyloepiphyseal dysplasia"},{"container-title":"HP:0100958","author":[{"family":"Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100958","type":"entry-dictionary","title":"Narrow foramen obturatorium"},{"container-title":"HP:0002656","author":[{"family":"abnormal development of end part of bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002656","type":"entry-dictionary","title":"Epiphyseal dysplasia"},{"container-title":"HP:0100961","author":[{"family":"Increase in size of the hippocampus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100961","type":"entry-dictionary","title":"Enlarged hippocampus"},{"container-title":"HP:0002657","author":[{"family":"Spondylometaphyseal dysplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002657","type":"entry-dictionary","title":"Spondylometaphyseal dysplasia"},{"container-title":"HP:0100960","author":[{"family":"Asymmetric ventricles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100960","type":"entry-dictionary","title":"Asymmetric ventricles"},{"container-title":"HP:0100963","author":[{"family":"hyperaesthesia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100963","type":"entry-dictionary","title":"Hyperesthesia"},{"container-title":"HP:0002659","author":[{"family":"abnormal susceptibility to fractures"},{"family":"increased bone fragility"},{"family":"increased susceptibility to fractures"},{"family":"increased tendency to fractures"},{"family":"frequent broken bones"},{"family":"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002659","type":"entry-dictionary","title":"Increased susceptibility to fractures"},{"container-title":"HP:0100962","author":[{"family":"shyness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0100962","type":"entry-dictionary","title":"Shyness"},{"container-title":"HP:0002661","author":[{"family":"painless fractures due to injury"},{"family":"An increased tendency to fractures following trauma, with fractures occurring without pain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002661","type":"entry-dictionary","title":"Painless fractures due to injury"},{"container-title":"HP:0002663","author":[{"family":"delayed epiphyseal maturation"},{"family":"detailed epiphyseal ossification"},{"family":"delayed maturation of end part of long bone"},{"family":"delayed opacification of the epiphyses"},{"family":"epiphyseal ossification delay"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002663","type":"entry-dictionary","title":"Delayed epiphyseal ossification"},{"container-title":"HP:0002664","author":[{"family":"oncological abnormality"},{"family":"tumor"},{"family":"tumour"},{"family":"cancer"},{"family":"neoplasia"},{"family":"oncology"},{"family":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002664","type":"entry-dictionary","title":"Neoplasm"},{"container-title":"HP:0002665","author":[{"family":"A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002665","type":"entry-dictionary","title":"Lymphoma"},{"container-title":"HP:0002666","author":[{"family":"chromaffin tumors"},{"family":"Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002666","type":"entry-dictionary","title":"Pheochromocytoma"},{"container-title":"HP:0002667","author":[{"family":"wilm's tumor"},{"family":"wilms tumor"},{"family":"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002667","type":"entry-dictionary","title":"Nephroblastoma"},{"container-title":"HP:0002668","author":[{"family":"paragangliomas"},{"family":"carotid body tumors"},{"family":"A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002668","type":"entry-dictionary","title":"Paraganglioma"},{"container-title":"HP:0002669","author":[{"family":"osteogenic sarcoma"},{"family":"A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002669","type":"entry-dictionary","title":"Osteosarcoma"},{"container-title":"HP:0002671","author":[{"family":"basal cell carcinomas"},{"family":"basalioma"},{"family":"basal cell epithelioma"},{"family":"basal cell nevus"},{"family":"The presence of a basal cell carcinoma of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002671","type":"entry-dictionary","title":"Basal cell carcinoma"},{"container-title":"HP:0002672","author":[{"family":"Gastrointestinal carcinoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002672","type":"entry-dictionary","title":"Gastrointestinal carcinoma"},{"container-title":"HP:0002673","author":[{"family":"coxa valga deformity"},{"family":"Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002673","type":"entry-dictionary","title":"Coxa valga"},{"container-title":"HP:0002676","author":[{"family":"cloverleaf skull shape"},{"family":"kleeblattschaedel"},{"family":"cloverleaf cranium shape"},{"family":"trilobar cranium shape"},{"family":"trilobar skull shape"},{"family":"Trilobar skull configuration when viewed from the front or behind."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002676","type":"entry-dictionary","title":"Cloverleaf skull"},{"container-title":"HP:0002677","author":[{"family":"hypoplasia of foramen magnum"},{"family":"foramen magnum stenosis"},{"family":"narrow foramen magnum"},{"family":"stenosis of foramen magnum"},{"family":"little foramen magnum"},{"family":"An abnormal narrowing of the foramen magnum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002677","type":"entry-dictionary","title":"Small foramen magnum"},{"container-title":"HP:0002678","author":[{"family":"uneven skull shape"},{"family":"skull asymmetry"},{"family":"abnormality of skull shape"},{"family":"asymmetry of skull"},{"family":"malformation of skull shape"},{"family":"unequal skull shape"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002678","type":"entry-dictionary","title":"Skull asymmetry"},{"container-title":"HP:0002679","author":[{"family":"abnormality of the pituitary fossa"},{"family":"anomaly of the sella turcica"},{"family":"anomaly of the hypophysial fossa"},{"family":"abnormality of the hypophysial fossa"},{"family":"anomaly of the pituitary fossa"},{"family":"Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002679","type":"entry-dictionary","title":"Abnormality of the sella turcica"},{"container-title":"HP:0002680","author":[{"family":"j-shaped hypophysial fossa"},{"family":"hour glass shaped hypophysial fossa"},{"family":"hour glass shaped sella turcica"},{"family":"j-shaped pituitary fossa"},{"family":"omega shaped sella turcica"},{"family":"hour glass shaped pituitary fossa"},{"family":"j-shaped sella"},{"family":"omega shaped hypophysial fossa"},{"family":"omega shaped pituitary fossa"},{"family":"A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002680","type":"entry-dictionary","title":"J-shaped sella turcica"},{"container-title":"HP:0002681","author":[{"family":"abnormal shape of pituitary fossa"},{"family":"deformity of hypophysial fossa"},{"family":"malformation of pituitary fossa"},{"family":"malformation of sella turcica"},{"family":"malformation of hypophysial fossa"},{"family":"abnormal shape of hypophysial fossa"},{"family":"abnormal shape of sella turcica"},{"family":"deformity of pituitary fossa"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002681","type":"entry-dictionary","title":"Deformed sella turcica"},{"container-title":"HP:0002682","author":[{"family":"wide skull"},{"family":"broad cranium"},{"family":"increased width of cranium"},{"family":"increased width of skull"},{"family":"wide cranium"},{"family":"broad skull"},{"family":"Increased width of the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002682","type":"entry-dictionary","title":"Broad skull"},{"container-title":"HP:0002683","author":[{"family":"abnormality of cranium"},{"family":"abnormality of the skull cap"},{"family":"abnormality of the skullcap"},{"family":"abnormality of calvarium"},{"family":"abnormality of cranial vault"},{"family":"Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002683","type":"entry-dictionary","title":"Abnormality of the calvaria"},{"container-title":"HP:0002684","author":[{"family":"increased thickness of calvaria"},{"family":"thickened calcaria"},{"family":"thick calvaria"},{"family":"thick calvarium"},{"family":"thickened cranial vault"},{"family":"calvarium thickened"},{"family":"increased thickness of cranial vault"},{"family":"calvarial thickening"},{"family":"increased calvarial thickness"},{"family":"thickened calvarium"},{"family":"increased thickness of skull cap"},{"family":"increased thickness of cranium"},{"family":"thickening of the calvaria"},{"family":"thickened skull cap"},{"family":"thickened cranium"},{"family":"increased thickness of calvarium"},{"family":"The presence of an abnormally thick calvaria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002684","type":"entry-dictionary","title":"Thickened calvaria"},{"container-title":"HP:0002686","author":[{"family":"maternal health problem"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002686","type":"entry-dictionary","title":"Prenatal maternal abnormality"},{"container-title":"HP:0002687","author":[{"family":"abnormality of sinus frontalis"},{"family":"abnormality of the forehead sinus"},{"family":"An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002687","type":"entry-dictionary","title":"Abnormality of frontal sinus"},{"container-title":"HP:0002688","author":[{"family":"absence of frontal sinuses"},{"family":"absent frontal sinus"},{"family":"aplasia sinus frontalis"},{"family":"missing frontal sinus"},{"family":"aplasia of frontal sinus"},{"family":"Aplasia of frontal sinus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002688","type":"entry-dictionary","title":"Absent frontal sinuses"},{"container-title":"HP:0002689","author":[{"family":"aplasia of paranasal sinuses"},{"family":"missing paranasal sinuses"},{"family":"absence of paranasal sinuses"},{"family":"missing sinuses"},{"family":"Aplasia of the paranasal sinuses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002689","type":"entry-dictionary","title":"Absent paranasal sinuses"},{"container-title":"HP:0002690","author":[{"family":"enlarged sella turcica"},{"family":"hyperplasia of sella turcica"},{"family":"big sella turcica"},{"family":"hyperplasia of hypophysial fossa"},{"family":"prominent sella turcica"},{"family":"hyperplasia of pituitary fossa"},{"family":"large pituitary fossa"},{"family":"large hypophysial fossa"},{"family":"An abnormal enlargement of the sella turcica."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002690","type":"entry-dictionary","title":"Large sella turcica"},{"container-title":"HP:0002691","author":[{"family":"obtuse basal angle of skull base"},{"family":"flattening of the skull base"},{"family":"increased basal angle of skull base"},{"family":"A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002691","type":"entry-dictionary","title":"Platybasia"},{"container-title":"HP:0002692","author":[{"family":"decreased size of facial bones"},{"family":"decreased size of facial skeleton"},{"family":"small facial skeleton"},{"family":"flattening of facial skeleton"},{"family":"underdevelopment of facial bones"},{"family":"hypotrophic facial skeleton"},{"family":"small facial bones"},{"family":"flattening of facial bones"},{"family":"underdevelopment of facial skeleton"},{"family":"hypoplasia of facial skeleton"},{"family":"hypotrophic facial bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002692","type":"entry-dictionary","title":"Hypoplastic facial bones"},{"container-title":"HP:0002693","author":[{"family":"abnormality of cranial base"},{"family":"abnormality of the skull base"},{"family":"An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002693","type":"entry-dictionary","title":"Abnormality of the skull base"},{"container-title":"HP:0002694","author":[{"family":"dense bone of skull base"},{"family":"hypercalcification of skull base"},{"family":"hyperossification of skull base"},{"family":"sclerosis of cranial base"},{"family":"hypermineralization of skull base"},{"family":"sclerosis of the skull base"},{"family":"sclerotic skull base"},{"family":"marked sclerosis of skull base"},{"family":"hyperostosis of skull base"},{"family":"Increased bone density of the skull base without significant changes in bony contour."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002694","type":"entry-dictionary","title":"Sclerosis of skull base"},{"container-title":"HP:0002695","author":[{"family":"symmetrical, oval defects in the parietal bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002695","type":"entry-dictionary","title":"Symmetrical, oval parietal bone defects"},{"container-title":"HP:0002696","author":[{"family":"abnormality of the parietal bone of skull"},{"family":"Any abnormality of the parietal bone of the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002696","type":"entry-dictionary","title":"Abnormality of the parietal bone"},{"container-title":"HP:0002697","author":[{"family":"holes in parietal bones"},{"family":"openings in parietal bones"},{"family":"persistent foramina of the parietal bones"},{"family":"The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002697","type":"entry-dictionary","title":"Parietal foramina"},{"container-title":"HP:0002699","author":[{"family":"Any abnormality of the foramen magnum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002699","type":"entry-dictionary","title":"Abnormality of the foramen magnum"},{"container-title":"HP:0002700","author":[{"family":"enlarged foramen magnum"},{"family":"wide foramen magnum"},{"family":"dilation of foramen magnum"},{"family":"increased diameter of foramen magnum"},{"family":"hyperplasia of foramen magnum"},{"family":"big foramen magnum"},{"family":"increased circumference of foramen magnum"},{"family":"An abnormal increase in the size of the foramen magnum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002700","type":"entry-dictionary","title":"Large foramen magnum"},{"container-title":"HP:0002703","author":[{"family":"abnormality of bone calcification of cranium"},{"family":"abnormality of bone mineralization of skull"},{"family":"abnormality of ossification of calvarium"},{"family":"abnormality of bone formation of calvarium"},{"family":"abnormality of bone mineralization of cranium"},{"family":"abnormality of bone calcification of skull"},{"family":"abnormality of bone formation of cranium"},{"family":"abnormality of bone mineralization of calvarium"},{"family":"abnormality of ossification of cranium"},{"family":"abnormality of skull bone formation"},{"family":"abnormality of bone calcification of calvarium"},{"family":"An abnormality of the process of ossification of the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002703","type":"entry-dictionary","title":"Abnormality of skull ossification"},{"container-title":"HP:0002705","author":[{"family":"narrow, high-arched palate"},{"family":"palate, high-arched"},{"family":"high, narrow palate"},{"family":"high narrow palate"},{"family":"narrow, highly arched palate"},{"family":"narrow, high-arched roof of mouth"},{"family":"palate high-arched"},{"family":"high vaulted palate"},{"family":"gothic palate"},{"family":"narrow and high arched palate"},{"family":"narrow, highly arched roof of mouth"},{"family":"The presence of a high and narrow palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002705","type":"entry-dictionary","title":"High, narrow palate"},{"container-title":"HP:0002707","author":[{"family":"palatal telangiectasia"},{"family":"spider veins of the roof of the mouth"},{"family":"palatal spider veins"},{"family":"palate teleangiectases"},{"family":"palatal angioectasia"},{"family":"telangiectasia of the roof of the mouth"},{"family":"palate telangiectases"},{"family":"The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002707","type":"entry-dictionary","title":"Palate telangiectasia"},{"container-title":"HP:0002708","author":[{"family":"prominent central palatal ridge"},{"family":"prominent central ridge on roof of the mouth"},{"family":"prominent medial palatal suture"},{"family":"Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002708","type":"entry-dictionary","title":"Prominent median palatal raphe"},{"container-title":"HP:0002710","author":[{"family":"commissural pit"},{"family":"lip pits at corners of the mouth"},{"family":"pits at the corners of the lips"},{"family":"commissural labial pits"},{"family":"A depression located at an oral commissure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002710","type":"entry-dictionary","title":"Commissural lip pit"},{"container-title":"HP:0002711","author":[{"family":"deep median tongue groove"},{"family":"deep central lingual groove"},{"family":"exaggerated median lingual furrow"},{"family":"deep median lingual groove"},{"family":"deep central tongue furrow"},{"family":"deep median tongue furrow"},{"family":"deep central lingual furrow"},{"family":"deep central tongue groove"},{"family":"deep median lingual furrow"},{"family":"Increased depth of the median tongue 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An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002723","type":"entry-dictionary","title":"Absence of bactericidal oxidative respiratory burst in phagocytes"},{"container-title":"HP:0002724","author":[{"family":"aspergillus infections, recurrent"},{"family":"An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002724","type":"entry-dictionary","title":"Recurrent Aspergillus infections"},{"container-title":"HP:0002725","author":[{"family":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal 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hyperplasia of follicular (germinal) centers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002729","type":"entry-dictionary","title":"Follicular hyperplasia"},{"container-title":"HP:0002730","author":[{"family":"A chronic form of lymphadenopathy that is not related to infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002730","type":"entry-dictionary","title":"Chronic noninfectious lymphadenopathy"},{"container-title":"HP:0002731","author":[{"family":"defective lymphocyte apoptosis"},{"family":"A reduction in the rate of apoptosis in lymphocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002731","type":"entry-dictionary","title":"Decreased lymphocyte apoptosis"},{"container-title":"HP:0002732","author":[{"family":"small lymph nodes"},{"family":"Underdevelopment of the lymph nodes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002732","type":"entry-dictionary","title":"Lymph node hypoplasia"},{"container-title":"HP:0002733","author":[{"family":"abnormal lymph node 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susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002743","type":"entry-dictionary","title":"Recurrent enteroviral infections"},{"container-title":"HP:0002744","author":[{"family":"right and left cleft lip and palate"},{"family":"bilateral cleft lip and cleft palate"},{"family":"Cleft lip and cleft palate affecting both sides of the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002744","type":"entry-dictionary","title":"Bilateral cleft lip and palate"},{"container-title":"HP:0002745","author":[{"family":"oral leukoplasia"},{"family":"oral idiopathic white patch"},{"family":"oral idiopathic keratosis"},{"family":"oral leukokeratosis"},{"family":"oral white plaque"},{"family":"oral idiopathic leukoplakia"},{"family":"oral leucoplakia"},{"family":"oral white patch"},{"family":"A thickened white patch on the oral mucosa that cannot be rubbed off."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002745","type":"entry-dictionary","title":"Oral leukoplakia"},{"container-title":"HP:0002747","author":[{"family":"respiratory failure due to muscle weakness"},{"family":"decreased respiratory function due to muscle weakness"},{"family":"respiratory muscle weakness"},{"family":"respiratory distress due to muscle weakness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002747","type":"entry-dictionary","title":"Respiratory insufficiency due to muscle weakness"},{"container-title":"HP:0002748","author":[{"family":"Rickets"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002748","type":"entry-dictionary","title":"Rickets"},{"container-title":"HP:0002749","author":[{"family":"softening of the bones"},{"family":"Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002749","type":"entry-dictionary","title":"Osteomalacia"},{"container-title":"HP:0002750","author":[{"family":"delayed bone age before puberty"},{"family":"delayed bone maturation"},{"family":"delayed skeletal development"},{"family":"retarded bone age"},{"family":"skeletal maturation retardation"},{"family":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002750","type":"entry-dictionary","title":"Delayed skeletal maturation"},{"container-title":"HP:0002751","author":[{"family":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002751","type":"entry-dictionary","title":"Kyphoscoliosis"},{"container-title":"HP:0002752","author":[{"family":"Sparse bone trabeculae"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002752","type":"entry-dictionary","title":"Sparse bone trabeculae"},{"container-title":"HP:0002753","author":[{"family":"thin cortices"},{"family":"Abnormal thinning of the cortical region of bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002753","type":"entry-dictionary","title":"Thin bony cortex"},{"container-title":"HP:0002754","author":[{"family":"bone infection"},{"family":"An infection of bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002754","type":"entry-dictionary","title":"Osteomyelitis"},{"container-title":"HP:0002756","author":[{"family":"pathologic fractures"},{"family":"spontaneous fractures"},{"family":"A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002756","type":"entry-dictionary","title":"Pathologic fracture"},{"container-title":"HP:0002757","author":[{"family":"recurrent fractures"},{"family":"frequent fractures"},{"family":"varying degree of multiple fractures"},{"family":"increased fracture rate"},{"family":"multiple spontaneous fractures"},{"family":"increased fractures"},{"family":"The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002757","type":"entry-dictionary","title":"Recurrent fractures"},{"container-title":"HP:0002758","author":[{"family":"degenerative joint disease"},{"family":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002758","type":"entry-dictionary","title":"Osteoarthritis"},{"container-title":"HP:0002761","author":[{"family":"joint laxity, generalized"},{"family":"increased joint mobility"},{"family":"Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002761","type":"entry-dictionary","title":"Generalized joint laxity"},{"container-title":"HP:0002762","author":[{"family":"Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002762","type":"entry-dictionary","title":"Multiple exostoses"},{"container-title":"HP:0002763","author":[{"family":"abnormal shape of cartilage"},{"family":"Any morphological abnormality of cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002763","type":"entry-dictionary","title":"Abnormal cartilage morphology"},{"container-title":"HP:0002764","author":[{"family":"Stippled chondral calcification"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002764","type":"entry-dictionary","title":"Stippled chondral calcification"},{"container-title":"HP:0002766","author":[{"family":"relatively short spine"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002766","type":"entry-dictionary","title":"Relatively short spine"},{"container-title":"HP:0002777","author":[{"family":"narrowing of windpipe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002777","type":"entry-dictionary","title":"Tracheal stenosis"},{"container-title":"HP:0002778","author":[{"family":"abnormality of the trachea"},{"family":"tracheal disease"},{"family":"A structural anomaly of the trachea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002778","type":"entry-dictionary","title":"Abnormal trachea morphology"},{"container-title":"HP:0002779","author":[{"family":"Tracheomalacia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002779","type":"entry-dictionary","title":"Tracheomalacia"},{"container-title":"HP:0002780","author":[{"family":"Bronchomalacia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002780","type":"entry-dictionary","title":"Bronchomalacia"},{"container-title":"HP:0002781","author":[{"family":"upper airway obstruction"},{"family":"Increased resistance to the passage of air in the upper airway."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002781","type":"entry-dictionary","title":"Upper airway obstruction"},{"container-title":"HP:0002783","author":[{"family":"chronic lung infections"},{"family":"lower respiratory tract infections"},{"family":"recurrent chest infections"},{"family":"An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002783","type":"entry-dictionary","title":"Recurrent lower respiratory tract infections"},{"container-title":"HP:0002786","author":[{"family":"Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002786","type":"entry-dictionary","title":"Tracheobronchomalacia"},{"container-title":"HP:0002787","author":[{"family":"tracheal ectopic calcification"},{"family":"calcification of the trachea"},{"family":"tracheal calcifications"},{"family":"Calcification (abnormal deposits of calcium) in the tracheal tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002787","type":"entry-dictionary","title":"Tracheal calcification"},{"container-title":"HP:0002788","author":[{"family":"frequent upper respiratory infections"},{"family":"recurrent upper respiratory and lower respiratory infections"},{"family":"recurrent upper respiratory infections"},{"family":"upper respiratory tract infections, recurrent"},{"family":"frequent upper respiratory tract infections"},{"family":"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002788","type":"entry-dictionary","title":"Recurrent upper respiratory tract infections"},{"container-title":"HP:0002789","author":[{"family":"increased respiratory rate or depth of breathing"},{"family":"polypnea"},{"family":"Very rapid breathing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002789","type":"entry-dictionary","title":"Tachypnea"},{"container-title":"HP:0002790","author":[{"family":"impaired breathing in newborn"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002790","type":"entry-dictionary","title":"Neonatal breathing dysregulation"},{"container-title":"HP:0002791","author":[{"family":"slow breathing"},{"family":"respiratory depression"},{"family":"alveolar hypoventilation"},{"family":"under breathing"},{"family":"A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002791","type":"entry-dictionary","title":"Hypoventilation"},{"container-title":"HP:0002792","author":[{"family":"decreased vital capacity"},{"family":"An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002792","type":"entry-dictionary","title":"Reduced vital capacity"},{"container-title":"HP:0002793","author":[{"family":"abnormal respiratory patterns"},{"family":"unusual breathing patterns"},{"family":"abnormal pattern of respiration"},{"family":"An anomaly of the rhythm or depth of breathing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002793","type":"entry-dictionary","title":"Abnormal pattern of respiration"},{"container-title":"HP:0002795","author":[{"family":"respiratory problem"},{"family":"functional respiratory abnormality"},{"family":"abnormal respiration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002795","type":"entry-dictionary","title":"Functional respiratory abnormality"},{"container-title":"HP:0002797","author":[{"family":"osteolytic defects of bones"},{"family":"increased bone resorption"},{"family":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002797","type":"entry-dictionary","title":"Osteolysis"},{"container-title":"HP:0002803","author":[{"family":"congenital contractures"},{"family":"congenital joint contractures"},{"family":"One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002803","type":"entry-dictionary","title":"Congenital contracture"},{"container-title":"HP:0002804","author":[{"family":"multiple congenital contractures"},{"family":"arthrogryposis, congenital"},{"family":"arthrogryposis multiplex"},{"family":"A non-progressive finding characterized by multiple joint contractures found throughout the body at birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002804","type":"entry-dictionary","title":"Arthrogryposis multiplex congenita"},{"container-title":"HP:0002805","author":[{"family":"accelerated bone age after puberty"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002805","type":"entry-dictionary","title":"Accelerated bone age after puberty"},{"container-title":"HP:0002808","author":[{"family":"gibbus deformity"},{"family":"round back"},{"family":"hunched back"},{"family":"hyperkyphosis"},{"family":"Exaggerated anterior convexity of the thoracic vertebral column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002808","type":"entry-dictionary","title":"Kyphosis"},{"container-title":"HP:0002810","author":[{"family":"dumbbell shaped metaphysis"},{"family":"dumbbell shaped wide portion of long bone"},{"family":"dumbbell shaped metaphyses"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002810","type":"entry-dictionary","title":"Dumbbell-shaped metaphyses"},{"container-title":"HP:0002812","author":[{"family":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002812","type":"entry-dictionary","title":"Coxa vara"},{"container-title":"HP:0002813","author":[{"family":"abnormal shape of limb bone"},{"family":"arm and\/or leg bone differences"},{"family":"limb abnormality"},{"family":"Any abnormality of bones of the arms or legs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002813","type":"entry-dictionary","title":"Abnormality of limb bone morphology"},{"container-title":"HP:0002814","author":[{"family":"abnormality of the leg"},{"family":"lower limb deformities"},{"family":"abnormality of the lower limb"},{"family":"An abnormality of the leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002814","type":"entry-dictionary","title":"Abnormality of the lower limb"},{"container-title":"HP:0002815","author":[{"family":"abnormality of the knee"},{"family":"An abnormality of the knee joint or surrounding structures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002815","type":"entry-dictionary","title":"Abnormality of the knee"},{"container-title":"HP:0002816","author":[{"family":"knee hyperextension"},{"family":"back knee"},{"family":"genu recurvata"},{"family":"An abnormally increased extension of the knee joint, so that the knee can bend backwards."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002816","type":"entry-dictionary","title":"Genu recurvatum"},{"container-title":"HP:0002817","author":[{"family":"abnormality of the arm"},{"family":"abnormality of the upper limb"},{"family":"An abnormality of the arm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002817","type":"entry-dictionary","title":"Abnormality of the upper limb"},{"container-title":"HP:0002818","author":[{"family":"An abnormality of the radius."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002818","type":"entry-dictionary","title":"Abnormality of the radius"},{"container-title":"HP:0002821","author":[{"family":"charcot arthropathy"},{"family":"charcot joint"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002821","type":"entry-dictionary","title":"Neuropathic arthropathy"},{"container-title":"HP:0002822","author":[{"family":"hyperplastic femoral trochanters"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002822","type":"entry-dictionary","title":"Hyperplasia of the femoral trochanters"},{"container-title":"HP:0002823","author":[{"family":"abnormality of the femora"},{"family":"abnormality of the thighbone"},{"family":"Any anomaly of the structure of the femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002823","type":"entry-dictionary","title":"Abnormality of femur morphology"},{"container-title":"HP:0002825","author":[{"family":"human tail"},{"family":"coccygeal tail"},{"family":"The presence of a tail-like skin appendage located adjacent to the sacrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002825","type":"entry-dictionary","title":"Caudal appendage"},{"container-title":"HP:0002826","author":[{"family":"halberd-shaped pelvis bone"},{"family":"An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the 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The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002833","type":"entry-dictionary","title":"Cystic angiomatosis of bone"},{"container-title":"HP:0002834","author":[{"family":"flared metaphysis of thigh bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002834","type":"entry-dictionary","title":"Flared femoral metaphysis"},{"container-title":"HP:0002835","author":[{"family":"pulmonary aspiration"},{"family":"Inspiration of a foreign object into the airway."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002835","type":"entry-dictionary","title":"Aspiration"},{"container-title":"HP:0002836","author":[{"family":"ectopia vesicae"},{"family":"Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002836","type":"entry-dictionary","title":"Bladder exstrophy"},{"container-title":"HP:0002837","author":[{"family":"bronchitis, recurrent"},{"family":"An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002837","type":"entry-dictionary","title":"Recurrent bronchitis"},{"container-title":"HP:0002839","author":[{"family":"sphincter disturbances"},{"family":"Abnormal function of a sphincter of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002839","type":"entry-dictionary","title":"Urinary bladder sphincter dysfunction"},{"container-title":"HP:0002840","author":[{"family":"inflammation of the lymph nodes"},{"family":"Inflammation of a lymph node."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002840","type":"entry-dictionary","title":"Lymphadenitis"},{"container-title":"HP:0002841","author":[{"family":"recurrent fungal infections"},{"family":"Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002841","type":"entry-dictionary","title":"Recurrent fungal infections"},{"container-title":"HP:0002842","author":[{"family":"Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002842","type":"entry-dictionary","title":"Recurrent Burkholderia cepacia infections"},{"container-title":"HP:0002843","author":[{"family":"defective cellular immunity"},{"family":"cellular immune defect"},{"family":"abnormal t cells"},{"family":"abnormality of t cells"},{"family":"An abnormality of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002843","type":"entry-dictionary","title":"Abnormal T cell morphology"},{"container-title":"HP:0002846","author":[{"family":"abnormality of b cells"},{"family":"abnormal b cells"},{"family":"An abnormality of B cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002846","type":"entry-dictionary","title":"Abnormal B cell morphology"},{"container-title":"HP:0002847","author":[{"family":"Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002847","type":"entry-dictionary","title":"Impaired memory B cell generation"},{"container-title":"HP:0002848","author":[{"family":"depressed antibody response to polysaccharide antigens"},{"family":"The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002848","type":"entry-dictionary","title":"Specific anti-polysaccharide antibody deficiency"},{"container-title":"HP:0002849","author":[{"family":"lymphoid germinal center defect"},{"family":"lymph nodes lack germinal center"},{"family":"Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002849","type":"entry-dictionary","title":"Absence of lymph node germinal center"},{"container-title":"HP:0002850","author":[{"family":"reduced igm levels"},{"family":"decreased igm level"},{"family":"An abnormally decreased level of immunoglobulin IgM in blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002850","type":"entry-dictionary","title":"IgM deficiency"},{"container-title":"HP:0002851","author":[{"family":"increased number of cd4-\/cd8- t cells expressing alpha\/beta t-cell receptors"},{"family":"An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002851","type":"entry-dictionary","title":"Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells"},{"container-title":"HP:0002853","author":[{"family":"An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002853","type":"entry-dictionary","title":"Increased proportion of HLA DR+ T cells"},{"container-title":"HP:0002857","author":[{"family":"genu valgus"},{"family":"genua valga"},{"family":"knee joint valgus deformity"},{"family":"knock knees"},{"family":"genu valga"},{"family":"The legs angle inward, such that the knees are close together and the ankles far apart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002857","type":"entry-dictionary","title":"Genu valgum"},{"container-title":"HP:0002858","author":[{"family":"The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002858","type":"entry-dictionary","title":"Meningioma"},{"container-title":"HP:0002859","author":[{"family":"Rhabdomyosarcoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002859","type":"entry-dictionary","title":"Rhabdomyosarcoma"},{"container-title":"HP:0002860","author":[{"family":"squamous cell cancer"},{"family":"The presence of squamous cell carcinoma of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002860","type":"entry-dictionary","title":"Squamous cell carcinoma"},{"container-title":"HP:0002861","author":[{"family":"malignant melanoma"},{"family":"skin cancer (melanoma)"},{"family":"The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002861","type":"entry-dictionary","title":"Melanoma"},{"container-title":"HP:0002862","author":[{"family":"The presence of a carcinoma of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002862","type":"entry-dictionary","title":"Bladder carcinoma"},{"container-title":"HP:0002863","author":[{"family":"hypoplastic myelodysplasia"},{"family":"myelodysplastic syndrome"},{"family":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002863","type":"entry-dictionary","title":"Myelodysplasia"},{"container-title":"HP:0002864","author":[{"family":"paragangliomas, head and neck"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002864","type":"entry-dictionary","title":"Paraganglioma of head and neck"},{"container-title":"HP:0002865","author":[{"family":"medullary thyroid cancer"},{"family":"The presence of a medullary carcinoma of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002865","type":"entry-dictionary","title":"Medullary thyroid carcinoma"},{"container-title":"HP:0002866","author":[{"family":"hypoplastic iliac alae"},{"family":"hypoplastic iliac wings"},{"family":"small iliac wings"},{"family":"Underdevelopment of the ilium ala."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002866","type":"entry-dictionary","title":"Hypoplastic iliac wing"},{"container-title":"HP:0002867","author":[{"family":"iliac abnormalities"},{"family":"An abnormality of the ilium, the largest and uppermost bone of the pelvis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002867","type":"entry-dictionary","title":"Abnormality of the ilium"},{"container-title":"HP:0002868","author":[{"family":"Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002868","type":"entry-dictionary","title":"Narrow iliac wings"},{"container-title":"HP:0002869","author":[{"family":"flared iliac wing"},{"family":"Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002869","type":"entry-dictionary","title":"Flared iliac wings"},{"container-title":"HP:0002870","author":[{"family":"obstructive sleep apnoea"},{"family":"A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002870","type":"entry-dictionary","title":"Obstructive sleep apnea"},{"container-title":"HP:0002871","author":[{"family":"central apnoea"},{"family":"Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002871","type":"entry-dictionary","title":"Central apnea"},{"container-title":"HP:0002872","author":[{"family":"episodic apnea induced by febrile illness or stress"},{"family":"Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002872","type":"entry-dictionary","title":"Apneic episodes precipitated by illness, fatigue, stress"},{"container-title":"HP:0002875","author":[{"family":"Exertional dyspnea"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002875","type":"entry-dictionary","title":"Exertional dyspnea"},{"container-title":"HP:0002876","author":[{"family":"hyperpnea, episodic"},{"family":"Episodes of very rapid breathing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002876","type":"entry-dictionary","title":"Episodic tachypnea"},{"container-title":"HP:0002877","author":[{"family":"nocturnal under breathing"},{"family":"nocturnal hypopnea"},{"family":"nocturnal slow breathing"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002877","type":"entry-dictionary","title":"Nocturnal hypoventilation"},{"container-title":"HP:0002878","author":[{"family":"respiratory failure"},{"family":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002878","type":"entry-dictionary","title":"Respiratory failure"},{"container-title":"HP:0002879","author":[{"family":"Abnormally increased variability of the size of the vertebral bodies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002879","type":"entry-dictionary","title":"Anisospondyly"},{"container-title":"HP:0002882","author":[{"family":"Recurrent bouts of sudden, severe apnea that may be life-threatening."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002882","type":"entry-dictionary","title":"Sudden episodic apnea"},{"container-title":"HP:0002883","author":[{"family":"rapid breathing"},{"family":"Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002883","type":"entry-dictionary","title":"Hyperventilation"},{"container-title":"HP:0002884","author":[{"family":"A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002884","type":"entry-dictionary","title":"Hepatoblastoma"},{"container-title":"HP:0002885","author":[{"family":"A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002885","type":"entry-dictionary","title":"Medulloblastoma"},{"container-title":"HP:0002886","author":[{"family":"vagal nerve tumors"},{"family":"glomus vagale paraganglioma"},{"family":"glomus vagale tumor"},{"family":"A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002886","type":"entry-dictionary","title":"Vagal paraganglioma"},{"container-title":"HP:0002888","author":[{"family":"The presence of an ependymoma of the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002888","type":"entry-dictionary","title":"Ependymoma"},{"container-title":"HP:0002890","author":[{"family":"The presence of a carcinoma of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002890","type":"entry-dictionary","title":"Thyroid carcinoma"},{"container-title":"HP:0002891","author":[{"family":"The presence of a leiomyosarcoma of the uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002891","type":"entry-dictionary","title":"Uterine leiomyosarcoma"},{"container-title":"HP:0002893","author":[{"family":"A benign epithelial tumor derived from intrinsic cells of the adenohypophysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002893","type":"entry-dictionary","title":"Pituitary adenoma"},{"container-title":"HP:0002894","author":[{"family":"neoplasia of the pancreas"},{"family":"cancer of the pancreas"},{"family":"increased risk of pancreatic cancer"},{"family":"pancreatic tumor"},{"family":"A tumor (abnormal growth of tissue) of the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002894","type":"entry-dictionary","title":"Neoplasm of the pancreas"},{"container-title":"HP:0002895","author":[{"family":"thyroid papillary carcinoma"},{"family":"papillary carcinoma of thyroid"},{"family":"The presence of a papillary adenocarcinoma of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002895","type":"entry-dictionary","title":"Papillary thyroid carcinoma"},{"container-title":"HP:0002896","author":[{"family":"liver tumor"},{"family":"liver cancer"},{"family":"A tumor (abnormal growth of tissue) of the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002896","type":"entry-dictionary","title":"Neoplasm of the liver"},{"container-title":"HP:0002897","author":[{"family":"parathyroid adenomas"},{"family":"A benign tumor of the parathyroid gland that can cause hyperparathyroidism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002897","type":"entry-dictionary","title":"Parathyroid adenoma"},{"container-title":"HP:0002898","author":[{"family":"embryonal tumors"},{"family":"embryonal neoplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002898","type":"entry-dictionary","title":"Embryonal neoplasm"},{"container-title":"HP:0002900","author":[{"family":"low blood potassium levels"},{"family":"An abnormally decreased potassium concentration in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002900","type":"entry-dictionary","title":"Hypokalemia"},{"container-title":"HP:0002901","author":[{"family":"low blood calcium levels"},{"family":"hypocalcaemia"},{"family":"An abnormally decreased calcium concentration in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002901","type":"entry-dictionary","title":"Hypocalcemia"},{"container-title":"HP:0002902","author":[{"family":"low blood sodium levels"},{"family":"An abnormally decreased sodium concentration in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002902","type":"entry-dictionary","title":"Hyponatremia"},{"container-title":"HP:0002904","author":[{"family":"high blood bilirubin levels"},{"family":"An increased amount of bilirubin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002904","type":"entry-dictionary","title":"Hyperbilirubinemia"},{"container-title":"HP:0002905","author":[{"family":"high blood phosphate levels"},{"family":"An abnormally increased phosphate concentration in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002905","type":"entry-dictionary","title":"Hyperphosphatemia"},{"container-title":"HP:0002907","author":[{"family":"microhematuria"},{"family":"Microscopic hematuria detected by dipstick or microscopic examination of the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002907","type":"entry-dictionary","title":"Microscopic hematuria"},{"container-title":"HP:0002908","author":[{"family":"direct hyperbilirubinemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002908","type":"entry-dictionary","title":"Conjugated hyperbilirubinemia"},{"container-title":"HP:0002909","author":[{"family":"generalized nonspecific aminoaciduria"},{"family":"An increased concentration of all types of amino acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002909","type":"entry-dictionary","title":"Generalized aminoaciduria"},{"container-title":"HP:0002910","author":[{"family":"subclinical abnormal liver function tests"},{"family":"high liver enzymes"},{"family":"increased liver function tests"},{"family":"elevated liver enzymes"},{"family":"elevated transaminases"},{"family":"increased liver enzymes"},{"family":"increased transaminases"},{"family":"elevated liver function tests"},{"family":"elevated serum transaminases"},{"family":"abnormal liver enzymes"},{"family":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002910","type":"entry-dictionary","title":"Elevated hepatic transaminases"},{"container-title":"HP:0002912","author":[{"family":"Increased concentration of methylmalonic acid in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002912","type":"entry-dictionary","title":"Methylmalonic acidemia"},{"container-title":"HP:0002913","author":[{"family":"Presence of myoglobin in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002913","type":"entry-dictionary","title":"Myoglobinuria"},{"container-title":"HP:0002914","author":[{"family":"increased urinary chloride"},{"family":"An increased concentration of chloride in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002914","type":"entry-dictionary","title":"Hyperchloriduria"},{"container-title":"HP:0002916","author":[{"family":"An abnormality of chromosome segregation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002916","type":"entry-dictionary","title":"Abnormality of chromosome segregation"},{"container-title":"HP:0002917","author":[{"family":"low blood magnesium levels"},{"family":"An abnormally decreased magnesium concentration in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002917","type":"entry-dictionary","title":"Hypomagnesemia"},{"container-title":"HP:0002918","author":[{"family":"high blood magnesium levels"},{"family":"An abnormally increased magnesium concentration in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002918","type":"entry-dictionary","title":"Hypermagnesemia"},{"container-title":"HP:0002919","author":[{"family":"ketonaciduria"},{"family":"acetonuria"},{"family":"ketoaciduria"},{"family":"High levels of ketone bodies in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002919","type":"entry-dictionary","title":"Ketonuria"},{"container-title":"HP:0002920","author":[{"family":"An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002920","type":"entry-dictionary","title":"Decreased circulating ACTH level"},{"container-title":"HP:0002921","author":[{"family":"abnormality of the csf"},{"family":"abnormal csf findings"},{"family":"An abnormality of the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002921","type":"entry-dictionary","title":"Abnormality of the cerebrospinal fluid"},{"container-title":"HP:0002922","author":[{"family":"cerebrospinal fluid protein increased"},{"family":"elevated csf protein"},{"family":"elevated cerebrospinal fluid protein"},{"family":"increased protein in csf"},{"family":"cerebrospinal fluid with increased protein"},{"family":"spinal fluid protein elevated"},{"family":"Increased concentration of protein in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002922","type":"entry-dictionary","title":"Increased CSF protein"},{"container-title":"HP:0002923","author":[{"family":"The presence in the serum of an autoantibody directed against the Fc portion of IgG."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002923","type":"entry-dictionary","title":"Rheumatoid factor positive"},{"container-title":"HP:0002925","author":[{"family":"increased serum thyroid-stimulating hormone"},{"family":"elevated thyroid stimulating hormone levels"},{"family":"increased thyroid-stimulating hormone"},{"family":"tsh excess"},{"family":"thyroid-stimulating hormone excess"},{"family":"high tsh"},{"family":"Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002925","type":"entry-dictionary","title":"Increased thyroid-stimulating hormone level"},{"container-title":"HP:0002926","author":[{"family":"abnormal thyroid function"},{"family":"An abnormal functionality of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002926","type":"entry-dictionary","title":"Abnormality of thyroid physiology"},{"container-title":"HP:0002927","author":[{"family":"high urine histidine levels"},{"family":"An increased concentration of histidine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002927","type":"entry-dictionary","title":"Histidinuria"},{"container-title":"HP:0002928","author":[{"family":"pyruvate dehydrogenase complex deficiency"},{"family":"decreased activity of the pdh complex"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002928","type":"entry-dictionary","title":"Decreased activity of the pyruvate dehydrogenase complex"},{"container-title":"HP:0002929","author":[{"family":"Leydig cell insensitivity to gonadotropin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002929","type":"entry-dictionary","title":"Leydig cell insensitivity to gonadotropin"},{"container-title":"HP:0002930","author":[{"family":"resistance to thyroid hormone"},{"family":"end-organ unresponsiveness to thyroid hormone"},{"family":"thyroid hormone resistance"},{"family":"Thyroid hormone resistance because of a defect in the thyroid hormone receptor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002930","type":"entry-dictionary","title":"Thyroid hormone receptor defect"},{"container-title":"HP:0002932","author":[{"family":"A reduction in aldehyde oxidase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002932","type":"entry-dictionary","title":"Aldehyde oxidase deficiency"},{"container-title":"HP:0002933","author":[{"family":"Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002933","type":"entry-dictionary","title":"Ventral hernia"},{"container-title":"HP:0002936","author":[{"family":"loss of distal sensation"},{"family":"distal sensory impairment of the lower extremities"},{"family":"decreased distal sensation"},{"family":"distal sensation loss"},{"family":"distal sensory loss, upper and lower limbs"},{"family":"distal sensory impairment in lower limbs"},{"family":"An abnormal reduction in sensation in the distal portions of the extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002936","type":"entry-dictionary","title":"Distal sensory impairment"},{"container-title":"HP:0002937","author":[{"family":"hemivertebra"},{"family":"Absence of one half of the vertebral body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002937","type":"entry-dictionary","title":"Hemivertebrae"},{"container-title":"HP:0002938","author":[{"family":"prominent lumbar lordosis"},{"family":"increased lumbar lordosis"},{"family":"exaggerated lumbar lordosis"},{"family":"An abnormal accentuation of the inward curvature of the spine in the lumbar region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002938","type":"entry-dictionary","title":"Lumbar hyperlordosis"},{"container-title":"HP:0002942","author":[{"family":"accentuated thoracic kyphosis"},{"family":"exaggerated thoracic kyphosis"},{"family":"Over curvature of the thoracic region, leading to a round back or if sever to a hump."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002942","type":"entry-dictionary","title":"Thoracic kyphosis"},{"container-title":"HP:0002943","author":[{"family":"Thoracic scoliosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002943","type":"entry-dictionary","title":"Thoracic scoliosis"},{"container-title":"HP:0002944","author":[{"family":"scoliosis, thoracolumbar"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002944","type":"entry-dictionary","title":"Thoracolumbar scoliosis"},{"container-title":"HP:0002945","author":[{"family":"narrow intervertebral spaces"},{"family":"narrow intervertebral disc spaces"},{"family":"Decreased height of the intervertebral disk."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002945","type":"entry-dictionary","title":"Intervertebral space narrowing"},{"container-title":"HP:0002946","author":[{"family":"Supernumerary vertebrae"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002946","type":"entry-dictionary","title":"Supernumerary vertebrae"},{"container-title":"HP:0002947","author":[{"family":"rounded neck"},{"family":"Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002947","type":"entry-dictionary","title":"Cervical kyphosis"},{"container-title":"HP:0002948","author":[{"family":"vertebral body fusion"},{"family":"fused vertebrae"},{"family":"fusion of vertebral bodies"},{"family":"spinal fusion"},{"family":"A developmental defect leading to the union of two adjacent vertebrae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002948","type":"entry-dictionary","title":"Vertebral fusion"},{"container-title":"HP:0002949","author":[{"family":"cervical vertebral fusion"},{"family":"cervical spine fusion"},{"family":"fused neck"},{"family":"fusion of cervical vertebrae"},{"family":"A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002949","type":"entry-dictionary","title":"Fused cervical vertebrae"},{"container-title":"HP:0002951","author":[{"family":"Congenital absence of a part of the vermis of cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002951","type":"entry-dictionary","title":"Partial absence of cerebellar vermis"},{"container-title":"HP:0002953","author":[{"family":"vertebral collapse"},{"family":"compression fracture"},{"family":"fractures of vertebral bodies"},{"family":"vertebral compression or collapse"},{"family":"vertebral body compression"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002953","type":"entry-dictionary","title":"Vertebral compression fractures"},{"container-title":"HP:0002955","author":[{"family":"A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002955","type":"entry-dictionary","title":"Granulomatosis"},{"container-title":"HP:0002958","author":[{"family":"unregulated immune response"},{"family":"immune dysregulation"},{"family":"Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune\/inflammatory complications."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002958","type":"entry-dictionary","title":"Immune dysregulation"},{"container-title":"HP:0002959","author":[{"family":"impaired b-lymphocyte isotype switching"},{"family":"An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002959","type":"entry-dictionary","title":"Impaired Ig class switch recombination"},{"container-title":"HP:0002960","author":[{"family":"autoimmunity"},{"family":"autoimmune condition"},{"family":"autoimmune disorder"},{"family":"autoimmune disease"},{"family":"The occurrence of an immune reaction against the organism's own cells or tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002960","type":"entry-dictionary","title":"Autoimmunity"},{"container-title":"HP:0002961","author":[{"family":"Selective deficiency of one or more, but not all, classes of immunoglobulins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002961","type":"entry-dictionary","title":"Dysgammaglobulinemia"},{"container-title":"HP:0002963","author":[{"family":"Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002963","type":"entry-dictionary","title":"Abnormal delayed hypersensitivity skin test"},{"container-title":"HP:0002965","author":[{"family":"lack of delayed skin hypersensitivity reaction"},{"family":"absence of delayed hypersensitivity skin test"},{"family":"Inability to react to a delayed hypersensitivity skin test."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002965","type":"entry-dictionary","title":"Cutaneous anergy"},{"container-title":"HP:0002967","author":[{"family":"outward turned elbows"},{"family":"Abnormal positioning in which the elbows are turned out."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002967","type":"entry-dictionary","title":"Cubitus valgus"},{"container-title":"HP:0002970","author":[{"family":"genu vara"},{"family":"genua vara"},{"family":"A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002970","type":"entry-dictionary","title":"Genu varum"},{"container-title":"HP:0002971","author":[{"family":"Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002971","type":"entry-dictionary","title":"Absent microvilli on the surface of peripheral blood lymphocytes"},{"container-title":"HP:0002972","author":[{"family":"decreased reactivity to skin test antigens"},{"family":"deficiency of delayed skin hypersensitivity"},{"family":"impaired delayed hypersensitivity"},{"family":"Decreased ability to react to a delayed hypersensitivity skin test."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002972","type":"entry-dictionary","title":"Reduced delayed hypersensitivity"},{"container-title":"HP:0002973","author":[{"family":"abnormality of the forearm"},{"family":"An abnormality of the lower arm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002973","type":"entry-dictionary","title":"Abnormality of the forearm"},{"container-title":"HP:0002974","author":[{"family":"fused forearm bones"},{"family":"An abnormal osseous union (fusion) between the radius and the ulna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002974","type":"entry-dictionary","title":"Radioulnar synostosis"},{"container-title":"HP:0002977","author":[{"family":"absent\/underdeveloped central nervous system tissue"},{"family":"Absence or underdevelopment of tissue in the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002977","type":"entry-dictionary","title":"Aplasia\/Hypoplasia involving the central nervous system"},{"container-title":"HP:0002979","author":[{"family":"bow-leggedness"},{"family":"bow legs"},{"family":"bowed legs"},{"family":"bowed lower limbs"},{"family":"A bending or abnormal curvature affecting a long bone of the leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002979","type":"entry-dictionary","title":"Bowing of the legs"},{"container-title":"HP:0002980","author":[{"family":"bowed femura"},{"family":"bowed thighbone"},{"family":"bowed femurs"},{"family":"Bowing (abnormal curvature) of the femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002980","type":"entry-dictionary","title":"Femoral bowing"},{"container-title":"HP:0002981","author":[{"family":"abnormality of the calf"},{"family":"An abnormality of the calf, i.e. of the posterior part of the lower leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002981","type":"entry-dictionary","title":"Abnormality of the calf"},{"container-title":"HP:0002982","author":[{"family":"bowed shankbone"},{"family":"bowed tibia"},{"family":"bowing of the tibia"},{"family":"bowed shinbone"},{"family":"A bending or abnormal curvature of the tibia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002982","type":"entry-dictionary","title":"Tibial bowing"},{"container-title":"HP:0002983","author":[{"family":"The presence of abnormally small extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002983","type":"entry-dictionary","title":"Micromelia"},{"container-title":"HP:0002984","author":[{"family":"short radius"},{"family":"short radii"},{"family":"hypoplastic radii"},{"family":"hypoplastic radius"},{"family":"shortening of radius"},{"family":"radial hypoplasia"},{"family":"radial ray hypoplasia"},{"family":"Underdevelopment of the radius."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002984","type":"entry-dictionary","title":"Hypoplasia of the radius"},{"container-title":"HP:0002986","author":[{"family":"bowed radius"},{"family":"bowed radii"},{"family":"A bending or abnormal curvature of the radius."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002986","type":"entry-dictionary","title":"Radial bowing"},{"container-title":"HP:0002987","author":[{"family":"elbow flexion contractures"},{"family":"elbow flexion deformity"},{"family":"fixed flexion at the elbow joint"},{"family":"contractures of elbows"},{"family":"contractures of the elbows"},{"family":"elbow contractures"},{"family":"contracture of elbow joint"},{"family":"A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002987","type":"entry-dictionary","title":"Elbow flexion contracture"},{"container-title":"HP:0002990","author":[{"family":"absent calf bone"},{"family":"absent-hypoplastic fibulae"},{"family":"absent fibulae"},{"family":"Absence of the fibula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002990","type":"entry-dictionary","title":"Fibular aplasia"},{"container-title":"HP:0002991","author":[{"family":"abnormality of the calf bone"},{"family":"An anomaly of the calf bone (fibula), one of the two bones of the calf."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002991","type":"entry-dictionary","title":"Abnormality of fibula morphology"},{"container-title":"HP:0002992","author":[{"family":"abnormality of the shankbone"},{"family":"abnormality of the shinbone"},{"family":"Abnormality of the tibia (shinbone)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002992","type":"entry-dictionary","title":"Abnormality of tibia morphology"},{"container-title":"HP:0002996","author":[{"family":"restricted elbow motion"},{"family":"limited elbow mobility"},{"family":"limited elbow movement"},{"family":"decreased elbow mobility"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002996","type":"entry-dictionary","title":"Limited elbow movement"},{"container-title":"HP:0002997","author":[{"family":"An abnormality of the ulna bone of the forearm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002997","type":"entry-dictionary","title":"Abnormality of the ulna"},{"container-title":"HP:0002999","author":[{"family":"dislocated patellae"},{"family":"dislocation of patella"},{"family":"dislocated kneecap"},{"family":"The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0002999","type":"entry-dictionary","title":"Patellar dislocation"},{"container-title":"HP:0003001","author":[{"family":"glomus jugulare tumors"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003001","type":"entry-dictionary","title":"Glomus jugular tumor"},{"container-title":"HP:0003002","author":[{"family":"breast cancer"},{"family":"The presence of a carcinoma of the breast."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003002","type":"entry-dictionary","title":"Breast carcinoma"},{"container-title":"HP:0003003","author":[{"family":"colon cancer"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003003","type":"entry-dictionary","title":"Colon cancer"},{"container-title":"HP:0003005","author":[{"family":"A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003005","type":"entry-dictionary","title":"Ganglioneuroma"},{"container-title":"HP:0003006","author":[{"family":"Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003006","type":"entry-dictionary","title":"Neuroblastoma"},{"container-title":"HP:0003009","author":[{"family":"Enhanced neurotoxicity of vincristine"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003009","type":"entry-dictionary","title":"Enhanced neurotoxicity of vincristine"},{"container-title":"HP:0003010","author":[{"family":"prolonged bleeding time"},{"family":"increased bleeding time"},{"family":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003010","type":"entry-dictionary","title":"Prolonged bleeding time"},{"container-title":"HP:0003011","author":[{"family":"muscular abnormality"},{"family":"Abnormality originating in one or more muscles, i.e., of the set of muscles of body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003011","type":"entry-dictionary","title":"Abnormality of the musculature"},{"container-title":"HP:0003013","author":[{"family":"bulging end part of bone"},{"family":"A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003013","type":"entry-dictionary","title":"Bulging epiphyses"},{"container-title":"HP:0003015","author":[{"family":"metaphyseal splaying"},{"family":"flared, widened metaphyses"},{"family":"flared wide portion of long bone"},{"family":"metaphyses flared"},{"family":"marked metaphyseal flaring of long bones"},{"family":"splayed metaphyses"},{"family":"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003015","type":"entry-dictionary","title":"Flared metaphysis"},{"container-title":"HP:0003016","author":[{"family":"widened metaphyses"},{"family":"broad wide portion of long bone"},{"family":"wide metaphyses"},{"family":"widened long bone metaphyses"},{"family":"Abnormal widening of the metaphyseal regions of long bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003016","type":"entry-dictionary","title":"Metaphyseal widening"},{"container-title":"HP:0003019","author":[{"family":"abnormalities of the wrists"},{"family":"abnormality of the wrist"},{"family":"Abnormality of the wrist, the structure connecting the hand and the forearm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003019","type":"entry-dictionary","title":"Abnormality of the wrist"},{"container-title":"HP:0003020","author":[{"family":"enlargement of the wrists"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003020","type":"entry-dictionary","title":"Enlargement of the wrists"},{"container-title":"HP:0003021","author":[{"family":"Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003021","type":"entry-dictionary","title":"Metaphyseal cupping"},{"container-title":"HP:0003022","author":[{"family":"short ulnae"},{"family":"underdeveloped ulna"},{"family":"ulnar hypoplasia"},{"family":"hypoplastic ulna"},{"family":"Underdevelopment of the ulna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003022","type":"entry-dictionary","title":"Hypoplasia of the ulna"},{"container-title":"HP:0003023","author":[{"family":"bowed limbs due to multiple fractures"},{"family":"Curvature of the shafts of the long bones due to multiple fractures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003023","type":"entry-dictionary","title":"Bowing of limbs due to multiple fractures"},{"container-title":"HP:0003025","author":[{"family":"irregular wide portion of a long bone"},{"family":"metaphyseal irregularities"},{"family":"metaphyseal fraying"},{"family":"frayed, irregular metaphyses"},{"family":"frayed, irregular, metaphyses"},{"family":"Irregularity of the normally smooth surface of the metaphyses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003025","type":"entry-dictionary","title":"Metaphyseal irregularity"},{"container-title":"HP:0003026","author":[{"family":"long bone shortening"},{"family":"short tubular bones"},{"family":"shortened long tubular bones"},{"family":"short long bone"},{"family":"One or more abnormally short long bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003026","type":"entry-dictionary","title":"Short long bone"},{"container-title":"HP:0003027","author":[{"family":"mesomelic shortening of limbs"},{"family":"mesomelic limb shortening"},{"family":"symmetric mesomelic limb shortness"},{"family":"Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003027","type":"entry-dictionary","title":"Mesomelia"},{"container-title":"HP:0003028","author":[{"family":"abnormality of the ankles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003028","type":"entry-dictionary","title":"Abnormality of the ankles"},{"container-title":"HP:0003029","author":[{"family":"enlargement of the ankles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003029","type":"entry-dictionary","title":"Enlargement of the ankles"},{"container-title":"HP:0003031","author":[{"family":"bowed ulna"},{"family":"curved ulna"},{"family":"Bending of the diaphysis (shaft) of the ulna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003031","type":"entry-dictionary","title":"Ulnar bowing"},{"container-title":"HP:0003034","author":[{"family":"increased bone density in shaft of long bone"},{"family":"craniodiaphyseal osteosclerosis"},{"family":"An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003034","type":"entry-dictionary","title":"Diaphyseal sclerosis"},{"container-title":"HP:0003037","author":[{"family":"enlarged joints"},{"family":"prominent joints"},{"family":"Increase in size of one or more joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003037","type":"entry-dictionary","title":"Enlarged joints"},{"container-title":"HP:0003038","author":[{"family":"short calf bone"},{"family":"short fibulae"},{"family":"hypoplastic fibula"},{"family":"Underdevelopment of the fibula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003038","type":"entry-dictionary","title":"Fibular hypoplasia"},{"container-title":"HP:0003040","author":[{"family":"Arthropathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003040","type":"entry-dictionary","title":"Arthropathy"},{"container-title":"HP:0003041","author":[{"family":"humeral-radial synostosis"},{"family":"synostosis of radius and humerus"},{"family":"humeral radial synostosis"},{"family":"radiohumeral synostosis of elbow"},{"family":"An abnormal osseous union (fusion) between the radius and the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003041","type":"entry-dictionary","title":"Humeroradial synostosis"},{"container-title":"HP:0003042","author":[{"family":"elbow dislocations"},{"family":"dislocations of the elbows"},{"family":"radiocapitellar dislocation"},{"family":"radiohumeral dislocation"},{"family":"ulnohumeral dislocation"},{"family":"Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003042","type":"entry-dictionary","title":"Elbow dislocation"},{"container-title":"HP:0003043","author":[{"family":"abnormality of the shoulder"},{"family":"An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003043","type":"entry-dictionary","title":"Abnormality of the shoulder"},{"container-title":"HP:0003044","author":[{"family":"Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003044","type":"entry-dictionary","title":"Shoulder flexion contracture"},{"container-title":"HP:0003045","author":[{"family":"abnormal kneecap"},{"family":"patellar abnormality"},{"family":"Abnormality of the patella (knee cap)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003045","type":"entry-dictionary","title":"Abnormality of the patella"},{"container-title":"HP:0003048","author":[{"family":"radial-head subluxation"},{"family":"radial subluxation"},{"family":"Partial dislocation of the head of the radius."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003048","type":"entry-dictionary","title":"Radial head subluxation"},{"container-title":"HP:0003049","author":[{"family":"ulnar deviation of wrists"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003049","type":"entry-dictionary","title":"Ulnar deviation of the wrist"},{"container-title":"HP:0003051","author":[{"family":"enlarged wide portion of a long bone"},{"family":"Abnormal increase in size of one or more metaphyses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003051","type":"entry-dictionary","title":"Enlarged metaphyses"},{"container-title":"HP:0003053","author":[{"family":"Epiphyseal deformities of tubular bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003053","type":"entry-dictionary","title":"Epiphyseal deformities of tubular bones"},{"container-title":"HP:0003057","author":[{"family":"tetra-amelia"},{"family":"Amelia of all four limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003057","type":"entry-dictionary","title":"Tetraamelia"},{"container-title":"HP:0003059","author":[{"family":"Abnormality of the radioulnar joints"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003059","type":"entry-dictionary","title":"Abnormality of the radioulnar joints"},{"container-title":"HP:0003063","author":[{"family":"abnormality of the humeri"},{"family":"An abnormality of the humerus (i.e., upper arm bone)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003063","type":"entry-dictionary","title":"Abnormality of the humerus"},{"container-title":"HP:0003065","author":[{"family":"small kneecap"},{"family":"hypoplastic patellae"},{"family":"small patellae"},{"family":"underdeveloped kneecap"},{"family":"Underdevelopment of the patella."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003065","type":"entry-dictionary","title":"Patellar hypoplasia"},{"container-title":"HP:0003066","author":[{"family":"limited knee extension"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003066","type":"entry-dictionary","title":"Limited knee extension"},{"container-title":"HP:0003067","author":[{"family":"madelung wrist deformity"},{"family":"An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003067","type":"entry-dictionary","title":"Madelung deformity"},{"container-title":"HP:0003068","author":[{"family":"Madelung-like forearm deformities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003068","type":"entry-dictionary","title":"Madelung-like forearm deformities"},{"container-title":"HP:0003070","author":[{"family":"Elbow ankylosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003070","type":"entry-dictionary","title":"Elbow ankylosis"},{"container-title":"HP:0003071","author":[{"family":"flat epiphyses"},{"family":"flat end part of bone"},{"family":"Abnormal flatness (decreased height) of epiphyses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003071","type":"entry-dictionary","title":"Flattened epiphysis"},{"container-title":"HP:0003072","author":[{"family":"high blood calcium levels"},{"family":"increased calcium in 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urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003080","type":"entry-dictionary","title":"Hydroxyprolinuria"},{"container-title":"HP:0003081","author":[{"family":"increased urinary potassium"},{"family":"hyperkaliuresis"},{"family":"An increased concentration of potassium(1+) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003081","type":"entry-dictionary","title":"Increased urinary potassium"},{"container-title":"HP:0003083","author":[{"family":"congenital radial head dislocation"},{"family":"radial head dislocation\/subluxation"},{"family":"dislocated radius"},{"family":"dislocation of radial head"},{"family":"dislocation of the radial head"},{"family":"radial dislocation"},{"family":"dislocated radial heads"},{"family":"A dislocation of the head of the radius from its socket in the elbow joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003083","type":"entry-dictionary","title":"Dislocated radial head"},{"container-title":"HP:0003084","author":[{"family":"increased long bone fracture rate"},{"family":"An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003084","type":"entry-dictionary","title":"Fractures of the long bones"},{"container-title":"HP:0003085","author":[{"family":"disproportionately long fibula"},{"family":"long calf bone"},{"family":"Disproportionately long fibulae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003085","type":"entry-dictionary","title":"Long fibula"},{"container-title":"HP:0003086","author":[{"family":"Small hands and feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003086","type":"entry-dictionary","title":"Acromesomelia"},{"container-title":"HP:0003088","author":[{"family":"premature osteoarthritis"},{"family":"premature arthritis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003088","type":"entry-dictionary","title":"Premature 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fibula compared to that of the tibia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003099","type":"entry-dictionary","title":"Fibular overgrowth"},{"container-title":"HP:0003100","author":[{"family":"slender, gracile long tubular bones"},{"family":"long bones slender"},{"family":"slender long bones"},{"family":"thin, gracile long bones"},{"family":"thin long bones"},{"family":"thin gracile long bones"},{"family":"Reduced diameter of a long bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003100","type":"entry-dictionary","title":"Slender long bone"},{"container-title":"HP:0003102","author":[{"family":"An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003102","type":"entry-dictionary","title":"Increased carrying angle"},{"container-title":"HP:0003103","author":[{"family":"abnormal compact bone morphology"},{"family":"abnormality of cortical bone"},{"family":"An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003103","type":"entry-dictionary","title":"Abnormal cortical bone morphology"},{"container-title":"HP:0003105","author":[{"family":"protuberances at ends of long bones"},{"family":"The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003105","type":"entry-dictionary","title":"Protuberances at ends of long bones"},{"container-title":"HP:0003106","author":[{"family":"subperiosteal erosions"},{"family":"Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003106","type":"entry-dictionary","title":"Subperiosteal bone resorption"},{"container-title":"HP:0003107","author":[{"family":"abnormality of cholesterol metabolism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003107","type":"entry-dictionary","title":"Abnormality of cholesterol metabolism"},{"container-title":"HP:0003108","author":[{"family":"high urine glycine levels"},{"family":"glycinuria"},{"family":"An increased concentration of glycine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003108","type":"entry-dictionary","title":"Hyperglycinuria"},{"container-title":"HP:0003109","author":[{"family":"high urine phosphate levels"},{"family":"phosphaturia"},{"family":"An increased excretion of phosphates in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003109","type":"entry-dictionary","title":"Hyperphosphaturia"},{"container-title":"HP:0003110","author":[{"family":"urine issues"},{"family":"pee issues"},{"family":"An abnormality of the composition of urine or the levels of its components."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003110","type":"entry-dictionary","title":"Abnormality of urine homeostasis"},{"container-title":"HP:0003111","author":[{"family":"electrolyte disorders"},{"family":"Abnormality of the homeostasis (concentration) of a monoatomic ion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003111","type":"entry-dictionary","title":"Abnormality of ion homeostasis"},{"container-title":"HP:0003112","author":[{"family":"abnormality of serum amino acid levels"},{"family":"The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003112","type":"entry-dictionary","title":"Abnormality of serum amino acid levels"},{"container-title":"HP:0003113","author":[{"family":"low blood chloride levels"},{"family":"An abnormally decreased chloride concentration in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003113","type":"entry-dictionary","title":"Hypochloremia"},{"container-title":"HP:0003115","author":[{"family":"abnormal ekg"},{"family":"ekg abnormality"},{"family":"abnormal electrocardiogram"},{"family":"abnormal ecg"},{"family":"Abnormal rhythm of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003115","type":"entry-dictionary","title":"Abnormal EKG"},{"container-title":"HP:0003116","author":[{"family":"abnormal echocardiography"},{"family":"abnormal echocardiogram"},{"family":"An abnormality detectable by sonography of the heart (echocardiography)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003116","type":"entry-dictionary","title":"Abnormal echocardiogram"},{"container-title":"HP:0003117","author":[{"family":"abnormality of circulating hormone level"},{"family":"An abnormal concentration of a hormone in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003117","type":"entry-dictionary","title":"Abnormality of circulating hormone level"},{"container-title":"HP:0003118","author":[{"family":"hypercortisolism"},{"family":"cushing syndrome"},{"family":"increased circulating cortisol level"},{"family":"increased cortisol production"},{"family":"Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003118","type":"entry-dictionary","title":"Increased circulating cortisol level"},{"container-title":"HP:0003119","author":[{"family":"dyslipidemia"},{"family":"An abnormality in the of lipid metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003119","type":"entry-dictionary","title":"Abnormality of lipid metabolism"},{"container-title":"HP:0003121","author":[{"family":"limb contractures"},{"family":"A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003121","type":"entry-dictionary","title":"Limb joint contracture"},{"container-title":"HP:0003124","author":[{"family":"high cholesterol"},{"family":"elevated serum cholesterol"},{"family":"elevated total cholesterol"},{"family":"increased total cholesterol"},{"family":"An increased concentration of cholesterol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003124","type":"entry-dictionary","title":"Hypercholesterolemia"},{"container-title":"HP:0003125","author":[{"family":"factor viii deficiency"},{"family":"Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003125","type":"entry-dictionary","title":"Reduced factor VIII activity"},{"container-title":"HP:0003126","author":[{"family":"tubular proteinuria"},{"family":"Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003126","type":"entry-dictionary","title":"Low-molecular-weight proteinuria"},{"container-title":"HP:0003127","author":[{"family":"low urine calcium levels"},{"family":"An abnormally decreased calcium concentration in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003127","type":"entry-dictionary","title":"Hypocalciuria"},{"container-title":"HP:0003128","author":[{"family":"lactic acidemia"},{"family":"lacticacidosis"},{"family":"hyperlacticacidemia"},{"family":"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003128","type":"entry-dictionary","title":"Lactic acidosis"},{"container-title":"HP:0003130","author":[{"family":"An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003130","type":"entry-dictionary","title":"Abnormal peripheral myelination"},{"container-title":"HP:0003131","author":[{"family":"high urine cystine levels"},{"family":"An increased concentration of cystine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003131","type":"entry-dictionary","title":"Cystinuria"},{"container-title":"HP:0003133","author":[{"family":"An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003133","type":"entry-dictionary","title":"Abnormality of the spinocerebellar tracts"},{"container-title":"HP:0003134","author":[{"family":"sensory and motor nerve conduction abnormalities"},{"family":"abnormal peripheral nerve transmission"},{"family":"An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003134","type":"entry-dictionary","title":"Abnormality of peripheral nerve conduction"},{"container-title":"HP:0003137","author":[{"family":"An increased concentration of proline in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003137","type":"entry-dictionary","title":"Prolinuria"},{"container-title":"HP:0003138","author":[{"family":"increased blood urea nitrogen"},{"family":"increased bun"},{"family":"An increased amount of nitrogen in the form of urea in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003138","type":"entry-dictionary","title":"Increased blood urea nitrogen"},{"container-title":"HP:0003139","author":[{"family":"panypogammaglobulinemia"},{"family":"A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003139","type":"entry-dictionary","title":"Panhypogammaglobulinemia"},{"container-title":"HP:0003140","author":[{"family":"T-wave inversion in the right precordial leads"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003140","type":"entry-dictionary","title":"T-wave inversion in the right precordial leads"},{"container-title":"HP:0003141","author":[{"family":"increased circulating ldl level"},{"family":"increased ldl cholesterol"},{"family":"hyperbetalipoproteinemia"},{"family":"increased beta-lipoproteins"},{"family":"increased circulating low-density lipoprotein cholesterol"},{"family":"increased plasma ldl levels"},{"family":"An elevated concentration of low-density lipoprotein cholesterol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003141","type":"entry-dictionary","title":"Increased circulating low-density lipoprotein levels"},{"container-title":"HP:0003142","author":[{"family":"Excessive purine production"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003142","type":"entry-dictionary","title":"Excessive purine production"},{"container-title":"HP:0003144","author":[{"family":"increased serum serotonin"},{"family":"A increased concentration of serotonin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003144","type":"entry-dictionary","title":"Increased serum serotonin"},{"container-title":"HP:0003145","author":[{"family":"decreased adocbl"},{"family":"Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003145","type":"entry-dictionary","title":"Decreased adenosylcobalamin"},{"container-title":"HP:0003146","author":[{"family":"decreased circulating cholesterol level"},{"family":"An decreased concentration of cholesterol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003146","type":"entry-dictionary","title":"Hypocholesterolemia"},{"container-title":"HP:0003148","author":[{"family":"elevated serum acid phosphatase"},{"family":"acid phosphatase elevated"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003148","type":"entry-dictionary","title":"Elevated serum acid phosphatase"},{"container-title":"HP:0003149","author":[{"family":"high urine uric acid level"},{"family":"An abnormally high level of uric acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003149","type":"entry-dictionary","title":"Hyperuricosuria"},{"container-title":"HP:0003150","author":[{"family":"glutaricaciduria"},{"family":"An increased concentration of glutaric acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003150","type":"entry-dictionary","title":"Glutaric aciduria"},{"container-title":"HP:0003152","author":[{"family":"increased serum calcitriol"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003152","type":"entry-dictionary","title":"Increased serum 1,25-dihydroxyvitamin D3"},{"container-title":"HP:0003153","author":[{"family":"high urine cystathionine levels"},{"family":"An elevated urinary concentration of cystathionine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003153","type":"entry-dictionary","title":"Cystathioninuria"},{"container-title":"HP:0003154","author":[{"family":"increased circulating acth level"},{"family":"high blood corticotropin levels"},{"family":"increased plasma acth"},{"family":"An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003154","type":"entry-dictionary","title":"Increased circulating ACTH level"},{"container-title":"HP:0003155","author":[{"family":"increased alkaline phosphatase"},{"family":"hyperphosphatasemia"},{"family":"greatly elevated alkaline phosphatase"},{"family":"hyperphosphatasia"},{"family":"increased serum alkaline phosphatase"},{"family":"high serum alkaline phosphatase"},{"family":"Abnormally increased serum levels of alkaline phosphatase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003155","type":"entry-dictionary","title":"Elevated alkaline phosphatase"},{"container-title":"HP:0003158","author":[{"family":"reduced urinary osmolality"},{"family":"An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003158","type":"entry-dictionary","title":"Hyposthenuria"},{"container-title":"HP:0003159","author":[{"family":"high urine oxalate levels"},{"family":"Increased excretion of oxalates in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003159","type":"entry-dictionary","title":"Hyperoxaluria"},{"container-title":"HP:0003160","author":[{"family":"abnormal isoelectric focusing of serum transferring"},{"family":"abnormal transferrin isoelectric focusing"},{"family":"Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003160","type":"entry-dictionary","title":"Abnormal isoelectric focusing of serum transferrin"},{"container-title":"HP:0003161","author":[{"family":"hydroxyphenylpyruvic aciduria"},{"family":"Increased concentration of pyruvic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003161","type":"entry-dictionary","title":"4-Hydroxyphenylpyruvic aciduria"},{"container-title":"HP:0003162","author":[{"family":"low blood sugar when fasting"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003162","type":"entry-dictionary","title":"Fasting hypoglycemia"},{"container-title":"HP:0003163","author":[{"family":"elevated urinary delta-aminolevulinic acid"},{"family":"An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003163","type":"entry-dictionary","title":"Elevated urinary delta-aminolevulinic acid"},{"container-title":"HP:0003164","author":[{"family":"hypothalamic gnrh deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003164","type":"entry-dictionary","title":"Hypothalamic gonadotropin-releasing hormone deficiency"},{"container-title":"HP:0003165","author":[{"family":"increased serum parathyroid hormone"},{"family":"elevated serum pth"},{"family":"elevated circulating pth level"},{"family":"elevated serum parathyroid hormone level"},{"family":"An abnormal increased concentration of parathyroid hormone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003165","type":"entry-dictionary","title":"Elevated circulating parathyroid hormone level"},{"container-title":"HP:0003166","author":[{"family":"increased urinary taurine"},{"family":"Increased concentration of taurine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003166","type":"entry-dictionary","title":"Increased urinary taurine"},{"container-title":"HP:0003167","author":[{"family":"high urine carnosine levels"},{"family":"An increased concentration of carnosine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003167","type":"entry-dictionary","title":"Carnosinuria"},{"container-title":"HP:0003168","author":[{"family":"Dibasicaminoaciduria"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003168","type":"entry-dictionary","title":"Dibasicaminoaciduria"},{"container-title":"HP:0003170","author":[{"family":"abnormality of the hipbone socket"},{"family":"acetabular abnormality"},{"family":"An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003170","type":"entry-dictionary","title":"Abnormality of the acetabulum"},{"container-title":"HP:0003172","author":[{"family":"abnormality of the pubic bones"},{"family":"abnormality of the pubis"},{"family":"An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003172","type":"entry-dictionary","title":"Abnormality of the pubic bone"},{"container-title":"HP:0003173","author":[{"family":"hypoplastic pubic bones"},{"family":"hypoplastic pubis"},{"family":"Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003173","type":"entry-dictionary","title":"Hypoplastic pubic bone"},{"container-title":"HP:0003174","author":[{"family":"anomaly of the ischium"},{"family":"abnormality of the ischial bones"},{"family":"An anomaly of the ischium, which forms the lower and back part of the hip bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003174","type":"entry-dictionary","title":"Abnormality of the ischium"},{"container-title":"HP:0003175","author":[{"family":"hypoplastic ischium"},{"family":"hypoplastic ischial bones"},{"family":"hypoplastic ischii"},{"family":"Underdevelopment of the ischium, which forms the lower and back part of the hip bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003175","type":"entry-dictionary","title":"Hypoplastic ischia"},{"container-title":"HP:0003177","author":[{"family":"square iliac bones"},{"family":"squaring of iliac bones"},{"family":"A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003177","type":"entry-dictionary","title":"Squared iliac bones"},{"container-title":"HP:0003179","author":[{"family":"protrusio acetabulae"},{"family":"Intrapelvic bulging of the medial acetabular wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003179","type":"entry-dictionary","title":"Protrusio acetabuli"},{"container-title":"HP:0003180","author":[{"family":"flattened acetabular roof"},{"family":"flat acetabular roofs"},{"family":"horizontal acetabulae"},{"family":"horizontal acetabular roofs"},{"family":"Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003180","type":"entry-dictionary","title":"Flat acetabular roof"},{"container-title":"HP:0003182","author":[{"family":"shallow acetabular fossa"},{"family":"shallow acetabulae"},{"family":"shallow acetabulum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003182","type":"entry-dictionary","title":"Shallow acetabular fossae"},{"container-title":"HP:0003183","author":[{"family":"wide symphysis of pubis"},{"family":"Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003183","type":"entry-dictionary","title":"Wide pubic symphysis"},{"container-title":"HP:0003184","author":[{"family":"limited hip abduction"},{"family":"Reduced ability to move the femur outward to the side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003184","type":"entry-dictionary","title":"Decreased hip abduction"},{"container-title":"HP:0003185","author":[{"family":"shortened sacroiliac notches"},{"family":"small sacroiliac notch"},{"family":"The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003185","type":"entry-dictionary","title":"Short sacroiliac notch"},{"container-title":"HP:0003186","author":[{"family":"inverted nipples"},{"family":"invaginated nipples"},{"family":"The presence of nipples that instead of pointing outward are retracted inwards."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003186","type":"entry-dictionary","title":"Inverted nipples"},{"container-title":"HP:0003187","author":[{"family":"underdeveloped breasts"},{"family":"Underdevelopment of the breast."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003187","type":"entry-dictionary","title":"Breast hypoplasia"},{"container-title":"HP:0003189","author":[{"family":"nasal elongation"},{"family":"increased length of nose"},{"family":"increased nasal length"},{"family":"elongated nose"},{"family":"increased height of nose"},{"family":"increased nasal height"},{"family":"long nose"},{"family":"Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003189","type":"entry-dictionary","title":"Long nose"},{"container-title":"HP:0003191","author":[{"family":"ala nasi, cleft"},{"family":"notched nasal alae"},{"family":"cleft nostril"},{"family":"cleft nasal alae"},{"family":"nostril coloboma"},{"family":"alar clefts"},{"family":"The presence of a notch in the margin of the ala nasi."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003191","type":"entry-dictionary","title":"Cleft ala nasi"},{"container-title":"HP:0003193","author":[{"family":"hayfever"},{"family":"hay fever"},{"family":"nasal allergies"},{"family":"It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003193","type":"entry-dictionary","title":"Allergic rhinitis"},{"container-title":"HP:0003194","author":[{"family":"short nasal bridge"},{"family":"decreased length of nasal bridge"},{"family":"short bridge of nose"},{"family":"decreased length of bridge of nose"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003194","type":"entry-dictionary","title":"Short nasal bridge"},{"container-title":"HP:0003196","author":[{"family":"decreased length of nose"},{"family":"hypoplastic nose"},{"family":"small nose"},{"family":"short nose"},{"family":"shortened nose"},{"family":"nasal hypoplasia"},{"family":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003196","type":"entry-dictionary","title":"Short nose"},{"container-title":"HP:0003198","author":[{"family":"myopathic changes"},{"family":"muscle tissue disease"},{"family":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003198","type":"entry-dictionary","title":"Myopathy"},{"container-title":"HP:0003199","author":[{"family":"underdeveloped muscles"},{"family":"decreased muscle mass"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003199","type":"entry-dictionary","title":"Decreased muscle mass"},{"container-title":"HP:0003200","author":[{"family":"mitochondrial proliferation in muscle tissue"},{"family":"ragged-red fibers"},{"family":"ragged red muscle fibers"},{"family":"An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003200","type":"entry-dictionary","title":"Ragged-red muscle fibers"},{"container-title":"HP:0003201","author":[{"family":"Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003201","type":"entry-dictionary","title":"Rhabdomyolysis"},{"container-title":"HP:0003202","author":[{"family":"muscle degeneration"},{"family":"amyotrophy involving the extremities"},{"family":"muscle atrophy, neurogenic"},{"family":"muscle hypotrophy"},{"family":"neurogenic muscle atrophy, especially in the lower limbs"},{"family":"neurogenic muscular atrophy"},{"family":"muscle wasting"},{"family":"The presence of skeletal muscular atrophy (which is also known as amyotrophy)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003202","type":"entry-dictionary","title":"Skeletal muscle atrophy"},{"container-title":"HP:0003203","author":[{"family":"negative nbt reduction test"},{"family":"In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003203","type":"entry-dictionary","title":"Negative nitroblue tetrazolium reduction test"},{"container-title":"HP:0003204","author":[{"family":"The intracellular accumulation of autofluorescent storage material."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003204","type":"entry-dictionary","title":"Intracellular accumulation of autofluorescent lipopigment storage material"},{"container-title":"HP:0003205","author":[{"family":"curvilinear profiles ultrastructurally"},{"family":"'curvilinear profiles' ultrastructurally in cells"},{"family":"intracellular curvilinear profiles on ultrastructural analysis"},{"family":"An intracellular accumulation of autofluorescent lipopigment storage material in a curved 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pattern."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003208","type":"entry-dictionary","title":"Fingerprint intracellular accumulation of autofluorescent lipopigment storage material"},{"container-title":"HP:0003209","author":[{"family":"A decreased rate of pyruvate carboxylase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003209","type":"entry-dictionary","title":"Decreased pyruvate carboxylase activity"},{"container-title":"HP:0003210","author":[{"family":"decreased methylmalonyl coa mutase activity"},{"family":"An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003210","type":"entry-dictionary","title":"Decreased methylmalonyl-CoA mutase activity"},{"container-title":"HP:0003212","author":[{"family":"elevated serum ige"},{"family":"elevated immunoglobulin e"},{"family":"high immunoglobulin e"},{"family":"An abnormally increased level of immunoglobulin 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amyloidosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003216","type":"entry-dictionary","title":"Generalized amyloid deposition"},{"container-title":"HP:0003217","author":[{"family":"high plasma glutamine"},{"family":"An increased concentration of glutamine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003217","type":"entry-dictionary","title":"Hyperglutaminemia"},{"container-title":"HP:0003218","author":[{"family":"high urine orotic acid levels"},{"family":"orotic aciduria"},{"family":"An increased concentration of orotic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003218","type":"entry-dictionary","title":"Oroticaciduria"},{"container-title":"HP:0003219","author":[{"family":"An increased concentration of ethylmalonic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003219","type":"entry-dictionary","title":"Ethylmalonic aciduria"},{"container-title":"HP:0003220","author":[{"family":"A type of chromosomal aberration 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Methylcobalamin is a form of vitamin B12."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003223","type":"entry-dictionary","title":"Decreased methylcobalamin"},{"container-title":"HP:0003224","author":[{"family":"Increased cellular sensitivity to UV light"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003224","type":"entry-dictionary","title":"Increased cellular sensitivity to UV light"},{"container-title":"HP:0003225","author":[{"family":"factor v deficiency"},{"family":"Decreased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003225","type":"entry-dictionary","title":"Reduced factor V activity"},{"container-title":"HP:0003226","author":[{"family":"rectilinear profiles ultrastructurally"},{"family":"An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003226","type":"entry-dictionary","title":"Rectilinear intracellular accumulation of autofluorescent lipopigment storage material"},{"container-title":"HP:0003228","author":[{"family":"high blood sodium levels"},{"family":"An abnormally increased sodium concentration in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003228","type":"entry-dictionary","title":"Hypernatremia"},{"container-title":"HP:0003231","author":[{"family":"increased tyrosine in blood"},{"family":"tyrosinemia"},{"family":"An increased concentration of tyrosine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003231","type":"entry-dictionary","title":"Hypertyrosinemia"},{"container-title":"HP:0003232","author":[{"family":"decreased mitochondrial malic enzyme"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003232","type":"entry-dictionary","title":"Mitochondrial malic enzyme reduced"},{"container-title":"HP:0003233","author":[{"family":"hypoalphalipoproteinemia"},{"family":"low hdl-cholesterol"},{"family":"decreased circulating high-density lipoprotein cholesterol"},{"family":"decreased hdl cholesterol"},{"family":"An decreased concentration of high-density lipoprotein cholesterol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003233","type":"entry-dictionary","title":"Decreased circulating high-density lipoprotein levels"},{"container-title":"HP:0003234","author":[{"family":"decreased plasma carnitine"},{"family":"carnitine deficiency"},{"family":"A decreased concentration of carnitine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003234","type":"entry-dictionary","title":"Decreased plasma carnitine"},{"container-title":"HP:0003235","author":[{"family":"methioninemia"},{"family":"increased methionine in blood"},{"family":"An increased concentration of methionine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003235","type":"entry-dictionary","title":"Hypermethioninemia"},{"container-title":"HP:0003236","author":[{"family":"elevated circulating creatine phosphokinase"},{"family":"increased cpk"},{"family":"increased serum creatine phosphokinase"},{"family":"increased serum creatine kinase"},{"family":"elevated serum creatine phosphokinase"},{"family":"increased creatine kinase"},{"family":"increased serum ck"},{"family":"increased creatine phosphokinase"},{"family":"elevated serum creatine kinase"},{"family":"elevated creatine kinase"},{"family":"elevated serum cpk"},{"family":"elevated blood creatine phosphokinase"},{"family":"high serum creatine kinase"},{"family":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003236","type":"entry-dictionary","title":"Elevated serum creatine phosphokinase"},{"container-title":"HP:0003237","author":[{"family":"increased levels of igg"},{"family":"An abnormally increased level of immunoglobulin G in blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003237","type":"entry-dictionary","title":"Increased IgG level"},{"container-title":"HP:0003238","author":[{"family":"Hyperpepsinogenemia I"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003238","type":"entry-dictionary","title":"Hyperpepsinogenemia I"},{"container-title":"HP:0003239","author":[{"family":"high urine phosphoethanolamine levels"},{"family":"An increased concentration of phosphoethanolamine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003239","type":"entry-dictionary","title":"Phosphoethanolaminuria"},{"container-title":"HP:0003240","author":[{"family":"increased prpp synthetase"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003240","type":"entry-dictionary","title":"Increased phosphoribosylpyrophosphate synthetase"},{"container-title":"HP:0003241","author":[{"family":"hypogenitalism"},{"family":"small genitalia"},{"family":"Underdevelopment of part or all of the external reproductive organs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003241","type":"entry-dictionary","title":"External genital hypoplasia"},{"container-title":"HP:0003244","author":[{"family":"Location of the urethral opening on the inferior aspect of the penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003244","type":"entry-dictionary","title":"Penile hypospadias"},{"container-title":"HP:0003246","author":[{"family":"prominent perineal raphe"},{"family":"Increased size of the ridge of tissue that extends along the midline of the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003246","type":"entry-dictionary","title":"Prominent scrotal raphe"},{"container-title":"HP:0003247","author":[{"family":"overgrowth of external genitalia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003247","type":"entry-dictionary","title":"Overgrowth of external genitalia"},{"container-title":"HP:0003248","author":[{"family":"Gonadal tissue inappropriate for external genitalia or chromosomal sex"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003248","type":"entry-dictionary","title":"Gonadal tissue inappropriate for external genitalia or chromosomal sex"},{"container-title":"HP:0003249","author":[{"family":"genital ulcers"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003249","type":"entry-dictionary","title":"Genital ulcers"},{"container-title":"HP:0003250","author":[{"family":"absent vagina"},{"family":"congenital absence of the vagina"},{"family":"Aplasia of the vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003250","type":"entry-dictionary","title":"Aplasia of the vagina"},{"container-title":"HP:0003251","author":[{"family":"male infertility"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003251","type":"entry-dictionary","title":"Male infertility"},{"container-title":"HP:0003252","author":[{"family":"Anteriorly displaced genitalia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003252","type":"entry-dictionary","title":"Anteriorly displaced genitalia"},{"container-title":"HP:0003254","author":[{"family":"An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003254","type":"entry-dictionary","title":"Abnormality of DNA repair"},{"container-title":"HP:0003256","author":[{"family":"coagulopathy"},{"family":"An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003256","type":"entry-dictionary","title":"Abnormality of the coagulation cascade"},{"container-title":"HP:0003258","author":[{"family":"Glyoxalase deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003258","type":"entry-dictionary","title":"Glyoxalase deficiency"},{"container-title":"HP:0003259","author":[{"family":"increased serum creatinine"},{"family":"increased creatinine"},{"family":"elevated creatinine"},{"family":"high blood creatinine level"},{"family":"An increased amount of creatinine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003259","type":"entry-dictionary","title":"Elevated serum creatinine"},{"container-title":"HP:0003260","author":[{"family":"high blood hydroxyproline levels"},{"family":"An increased concentration of hydroxyproline in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003260","type":"entry-dictionary","title":"Hydroxyprolinemia"},{"container-title":"HP:0003261","author":[{"family":"increased serum iga"},{"family":"iga hypergammaglobulinemia"},{"family":"increased levels of iga"},{"family":"elevated serum iga"},{"family":"elevated iga"},{"family":"An abnormally increased level of immunoglobulin A in blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003261","type":"entry-dictionary","title":"Increased IgA level"},{"container-title":"HP:0003262","author":[{"family":"smooth muscle antibody positive"},{"family":"anti-smooth muscle antibody positivity"},{"family":"The presence in serum of antibodies against smooth muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003262","type":"entry-dictionary","title":"Smooth muscle antibody positivity"},{"container-title":"HP:0003264","author":[{"family":"Deficiency of N-acetylglucosamine-1-phosphotransferase"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003264","type":"entry-dictionary","title":"Deficiency of N-acetylglucosamine-1-phosphotransferase"},{"container-title":"HP:0003265","author":[{"family":"high blood bilirubin levels in neonate"},{"family":"hyperbilirubinemia, neonatal"},{"family":"A type of hyperbilirubinemia with neonatal onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003265","type":"entry-dictionary","title":"Neonatal hyperbilirubinemia"},{"container-title":"HP:0003267","author":[{"family":"orotidine-5-prime-phosphate decarboxylase defect"},{"family":"An abnormal decrease in orotidine 5'-phosphate decarboxylase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003267","type":"entry-dictionary","title":"Reduced orotidine 5-prime phosphate decarboxylase activity"},{"container-title":"HP:0003268","author":[{"family":"high urine arginine levels"},{"family":"A increased concentration of arginine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003268","type":"entry-dictionary","title":"Argininuria"},{"container-title":"HP:0003269","author":[{"family":"Sudanophilic leukodystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003269","type":"entry-dictionary","title":"Sudanophilic leukodystrophy"},{"container-title":"HP:0003270","author":[{"family":"abdominal bloating"},{"family":"belly bloating"},{"family":"abdominal swelling"},{"family":"distended abdomen"},{"family":"abdominal distension"},{"family":"Distention of the abdomen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003270","type":"entry-dictionary","title":"Abdominal distention"},{"container-title":"HP:0003271","author":[{"family":"Abnormal increased size of the viscera of the abdomen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003271","type":"entry-dictionary","title":"Visceromegaly"},{"container-title":"HP:0003272","author":[{"family":"abnormality of the hip bone"},{"family":"abnormality of the hips"},{"family":"An abnormality of the hip bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003272","type":"entry-dictionary","title":"Abnormality of the hip bone"},{"container-title":"HP:0003273","author":[{"family":"flexion contracture of hips"},{"family":"flexion contractures of hips"},{"family":"hip contractures"},{"family":"hip flexion contractures"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003273","type":"entry-dictionary","title":"Hip contracture"},{"container-title":"HP:0003274","author":[{"family":"acetabular hypoplasia"},{"family":"hypoplastic acetabula"},{"family":"Underdeveloped acetabulae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003274","type":"entry-dictionary","title":"Hypoplastic acetabulae"},{"container-title":"HP:0003275","author":[{"family":"narrow pelvis bone"},{"family":"Reduced side to side width of the pelvis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003275","type":"entry-dictionary","title":"Narrow pelvis bone"},{"container-title":"HP:0003276","author":[{"family":"pelvic exostoses"},{"family":"A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003276","type":"entry-dictionary","title":"Pelvic bone exostoses"},{"container-title":"HP:0003277","author":[{"family":"Constricted iliac wings"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003277","type":"entry-dictionary","title":"Constricted iliac wings"},{"container-title":"HP:0003278","author":[{"family":"square pelvis bone"},{"family":"squared off pelvis"},{"family":"An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003278","type":"entry-dictionary","title":"Square pelvis bone"},{"container-title":"HP:0003279","author":[{"family":"Widening of the femoral head and neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003279","type":"entry-dictionary","title":"Coxa magna"},{"container-title":"HP:0003281","author":[{"family":"increased serum ferritin level"},{"family":"elevated serum ferritin"},{"family":"increased ferritin"},{"family":"hyperferritinaemia"},{"family":"high ferritin level"},{"family":"hyperferritinemia"},{"family":"Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003281","type":"entry-dictionary","title":"Increased serum ferritin"},{"container-title":"HP:0003282","author":[{"family":"decreased serum alkaline phosphatase"},{"family":"Abnormally reduced serum levels of alkaline phosphatase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003282","type":"entry-dictionary","title":"Low alkaline phosphatase"},{"container-title":"HP:0003286","author":[{"family":"high blood cystathionine levels"},{"family":"An increased concentration of cystathionine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003286","type":"entry-dictionary","title":"Cystathioninemia"},{"container-title":"HP:0003287","author":[{"family":"mitochondrial dysfunction"},{"family":"A functional anomaly of mitochondria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003287","type":"entry-dictionary","title":"Abnormality of mitochondrial metabolism"},{"container-title":"HP:0003288","author":[{"family":"mitochondrial pcc defect"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003288","type":"entry-dictionary","title":"Mitochondrial propionyl-CoA carboxylase defect"},{"container-title":"HP:0003292","author":[{"family":"reduced circulating leptin level"},{"family":"decreased serum leptin"},{"family":"A decreased concentration of leptin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003292","type":"entry-dictionary","title":"Decreased serum leptin"},{"container-title":"HP:0003296","author":[{"family":"high urine threonine levels"},{"family":"An increased concentration of threonine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003296","type":"entry-dictionary","title":"Hyperthreoninuria"},{"container-title":"HP:0003297","author":[{"family":"high blood lysine levels"},{"family":"lysinuria"},{"family":"An increased concentration of lysine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003297","type":"entry-dictionary","title":"Hyperlysinuria"},{"container-title":"HP:0003298","author":[{"family":"The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003298","type":"entry-dictionary","title":"Spina bifida occulta"},{"container-title":"HP:0003300","author":[{"family":"bullet vertebral body"},{"family":"oval vertebral bodies"},{"family":"ovoid vertebrae"},{"family":"ovoid-shaped vertebral bodies"},{"family":"When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003300","type":"entry-dictionary","title":"Ovoid vertebral bodies"},{"container-title":"HP:0003301","author":[{"family":"irregular endplates"},{"family":"end-plate irregularities"},{"family":"endplate irregularities"},{"family":"irregular end plates"},{"family":"irregular vertebral plates"},{"family":"vertebral endplate irregularity"},{"family":"An irregular surface of the vertebral end plates, which are normally relatively smooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003301","type":"entry-dictionary","title":"Irregular vertebral endplates"},{"container-title":"HP:0003302","author":[{"family":"spondylolithesis"},{"family":"Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003302","type":"entry-dictionary","title":"Spondylolisthesis"},{"container-title":"HP:0003304","author":[{"family":"Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003304","type":"entry-dictionary","title":"Spondylolysis"},{"container-title":"HP:0003305","author":[{"family":"Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003305","type":"entry-dictionary","title":"Block vertebrae"},{"container-title":"HP:0003306","author":[{"family":"rigid spine"},{"family":"Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003306","type":"entry-dictionary","title":"Spinal rigidity"},{"container-title":"HP:0003307","author":[{"family":"lordosis"},{"family":"prominent swayback"},{"family":"Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003307","type":"entry-dictionary","title":"Hyperlordosis"},{"container-title":"HP:0003308","author":[{"family":"A partial dislocation of one or more intervertebral joints in the cervical vertebral column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003308","type":"entry-dictionary","title":"Cervical subluxation"},{"container-title":"HP:0003309","author":[{"family":"ovoid thoracic and lumbar vertebrae"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003309","type":"entry-dictionary","title":"Ovoid thoracolumbar vertebrae"},{"container-title":"HP:0003310","author":[{"family":"abnormal odontoid peg"},{"family":"abnormal odontoid process"},{"family":"Abnormality of the dens of the axis, which is also known as the odontoid process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003310","type":"entry-dictionary","title":"Abnormality of the odontoid process"},{"container-title":"HP:0003311","author":[{"family":"hypoplastic odontoid process"},{"family":"odontoid hypoplasia"},{"family":"small odontoid process"},{"family":"small odontoid peg"},{"family":"Developmental hypoplasia of the dens of the axis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003311","type":"entry-dictionary","title":"Hypoplasia of the odontoid process"},{"container-title":"HP:0003312","author":[{"family":"abnormally shaped vertebrae"},{"family":"Abnormal morphology of vertebral body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003312","type":"entry-dictionary","title":"Abnormal form of the vertebral bodies"},{"container-title":"HP:0003316","author":[{"family":"butterfly vertebrae"},{"family":"In the orthopedic and radiological literature, sagittally cleft vertebra is generally known as a butterfly vertebra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003316","type":"entry-dictionary","title":"Butterfly vertebrae"},{"container-title":"HP:0003318","author":[{"family":"Cervical spine hypermobility"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003318","type":"entry-dictionary","title":"Cervical spine hypermobility"},{"container-title":"HP:0003319","author":[{"family":"abnormality of the cervical vertebrae"},{"family":"abnormal cervical spine"},{"family":"cervical vertebral anomalies"},{"family":"cervical spine abnormalities"},{"family":"cervical vertebral abnormalities"},{"family":"Any abnormality of the cervical vertebral column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003319","type":"entry-dictionary","title":"Abnormality of the cervical spine"},{"container-title":"HP:0003320","author":[{"family":"A partial dislocation of the atlantoaxial joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003320","type":"entry-dictionary","title":"C1-C2 subluxation"},{"container-title":"HP:0003321","author":[{"family":"Biconcave flattened vertebrae"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003321","type":"entry-dictionary","title":"Biconcave flattened vertebrae"},{"container-title":"HP:0003323","author":[{"family":"muscle weakness, progressive"},{"family":"progressive muscular weakness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003323","type":"entry-dictionary","title":"Progressive muscle weakness"},{"container-title":"HP:0003324","author":[{"family":"muscle weakness, diffuse"},{"family":"generalized weakness"},{"family":"muscle weakness, generalized"},{"family":"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003324","type":"entry-dictionary","title":"Generalized muscle weakness"},{"container-title":"HP:0003325","author":[{"family":"limb girdle weakness"},{"family":"muscular weakness, limb-girdle"},{"family":"muscle weakness, limb-girdle"},{"family":"Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003325","type":"entry-dictionary","title":"Limb-girdle muscle weakness"},{"container-title":"HP:0003326","author":[{"family":"muscle ache"},{"family":"muscle pain"},{"family":"myalgias"},{"family":"Pain in muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003326","type":"entry-dictionary","title":"Myalgia"},{"container-title":"HP:0003327","author":[{"family":"Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003327","type":"entry-dictionary","title":"Axial muscle weakness"},{"container-title":"HP:0003328","author":[{"family":"Abnormal hair laboratory examination"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003328","type":"entry-dictionary","title":"Abnormal hair laboratory examination"},{"container-title":"HP:0003329","author":[{"family":"Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003329","type":"entry-dictionary","title":"Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes"},{"container-title":"HP:0003330","author":[{"family":"Any anomaly in the composite material or the layered arrangement of the bony skeleton."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003330","type":"entry-dictionary","title":"Abnormal bone structure"},{"container-title":"HP:0003332","author":[{"family":"Absent primary metaphyseal spongiosa"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003332","type":"entry-dictionary","title":"Absent primary metaphyseal spongiosa"},{"container-title":"HP:0003333","author":[{"family":"Increased serum beta-hexosaminidase"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003333","type":"entry-dictionary","title":"Increased serum beta-hexosaminidase"},{"container-title":"HP:0003334","author":[{"family":"An abnormal increase in catecholamine concentration in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003334","type":"entry-dictionary","title":"Elevated circulating catecholamine level"},{"container-title":"HP:0003336","author":[{"family":"An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003336","type":"entry-dictionary","title":"Abnormal enchondral ossification"},{"container-title":"HP:0003337","author":[{"family":"poor prothrombin consumption"},{"family":"The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003337","type":"entry-dictionary","title":"Reduced prothrombin consumption"},{"container-title":"HP:0003338","author":[{"family":"Focal necrosis of right ventricular muscle cells"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003338","type":"entry-dictionary","title":"Focal necrosis of right ventricular muscle cells"},{"container-title":"HP:0003339","author":[{"family":"anemia corrected by uridylic acid and cytidylic acid"},{"family":"A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003339","type":"entry-dictionary","title":"Pyrimidine-responsive megaloblastic anemia"},{"container-title":"HP:0003341","author":[{"family":"subepidermal blistering with cleavage in the lamina lucida"},{"family":"The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003341","type":"entry-dictionary","title":"Junctional split"},{"container-title":"HP:0003343","author":[{"family":"Glutathione synthetase deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003343","type":"entry-dictionary","title":"Glutathione synthetase deficiency"},{"container-title":"HP:0003344","author":[{"family":"3-methylglutaconicaciduria"},{"family":"3-methylglutaricaciduria"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003344","type":"entry-dictionary","title":"3-Methylglutaric aciduria"},{"container-title":"HP:0003345","author":[{"family":"An increased concentration of noradrenaline in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003345","type":"entry-dictionary","title":"Elevated urinary norepinephrine"},{"container-title":"HP:0003347","author":[{"family":"Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003347","type":"entry-dictionary","title":"Impaired lymphocyte transformation with phytohemagglutinin"},{"container-title":"HP:0003348","author":[{"family":"increased serum alanine"},{"family":"increased blood alanine"},{"family":"An increased concentration of alanine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003348","type":"entry-dictionary","title":"Hyperalaninemia"},{"container-title":"HP:0003349","author":[{"family":"A reduction in the rate of cholesterol esterification."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003349","type":"entry-dictionary","title":"Low cholesterol esterification rates"},{"container-title":"HP:0003351","author":[{"family":"decreased plasma renin activity"},{"family":"low plasma renin activity"},{"family":"suppressed plasma renin activity"},{"family":"An decreased level of renin (PRO:000013883) in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003351","type":"entry-dictionary","title":"Decreased circulating renin level"},{"container-title":"HP:0003352","author":[{"family":"An increase in the number of chromosome sets per cell in bone marrow cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003352","type":"entry-dictionary","title":"Endopolyploidy on chromosome studies of bone marrow"},{"container-title":"HP:0003353","author":[{"family":"An abnormality of amino acid metabolism characterized by a decreased rate of propionyl-CoA carboxylase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003353","type":"entry-dictionary","title":"Propionyl-CoA carboxylase deficiency"},{"container-title":"HP:0003354","author":[{"family":"high blood threonine levels"},{"family":"An increased concentration of threonine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003354","type":"entry-dictionary","title":"Hyperthreoninemia"},{"container-title":"HP:0003355","author":[{"family":"hyperaminoaciduria"},{"family":"abnormal urinary amino-acid findings"},{"family":"An increased concentration of an amino acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003355","type":"entry-dictionary","title":"Aminoaciduria"},{"container-title":"HP:0003357","author":[{"family":"decreased thymic hormone"},{"family":"A reduction in the level of thymic horomone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003357","type":"entry-dictionary","title":"Thymic hormone decreased"},{"container-title":"HP:0003358","author":[{"family":"An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003358","type":"entry-dictionary","title":"Elevated intracellular cystine"},{"container-title":"HP:0003359","author":[{"family":"decreased urinary sulfate"},{"family":"Decreased concentration of sulfate in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003359","type":"entry-dictionary","title":"Decreased urinary sulfate"},{"container-title":"HP:0003361","author":[{"family":"high urine tryptophan levels"},{"family":"An increased concentration of tryptophan in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003361","type":"entry-dictionary","title":"Tryptophanuria"},{"container-title":"HP:0003362","author":[{"family":"increased plasma vldl cholesterol"},{"family":"increased circulating very-low-density lipoprotein cholesterol"},{"family":"An increase in the amount of very-low-density lipoprotein cholesterol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003362","type":"entry-dictionary","title":"Increased circulating very-low-density lipoprotein levels"},{"container-title":"HP:0003363","author":[{"family":"situs inversus visceralis"},{"family":"situs inversus viscerum"},{"family":"A left-right reversal (or \"mirror reflection\") of the anatomical location of the viscera of the abdomen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003363","type":"entry-dictionary","title":"Abdominal situs inversus"},{"container-title":"HP:0003365","author":[{"family":"hip joint pain"},{"family":"hip arthralgia"},{"family":"coxalgia"},{"family":"Joint pain affecting the hip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003365","type":"entry-dictionary","title":"Arthralgia of the hip"},{"container-title":"HP:0003366","author":[{"family":"abnormal neck or head of thigh bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003366","type":"entry-dictionary","title":"Abnormality of the femoral neck or head region"},{"container-title":"HP:0003367","author":[{"family":"abnormal neck of thigh bone"},{"family":"An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003367","type":"entry-dictionary","title":"Abnormality of the femoral neck"},{"container-title":"HP:0003368","author":[{"family":"abnormal head of thigh bone"},{"family":"An abnormality of the femoral head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003368","type":"entry-dictionary","title":"Abnormality of the femoral head"},{"container-title":"HP:0003370","author":[{"family":"flat proximal femoral epiphyses"},{"family":"flattened proximal femoral epiphyses"},{"family":"flat capital femoral epiphyses"},{"family":"flat end part of innermost thighbone"},{"family":"flat femoral capital epiphyses"},{"family":"An abnormal flattening of the proximal epiphysis of the femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003370","type":"entry-dictionary","title":"Flat capital femoral epiphysis"},{"container-title":"HP:0003371","author":[{"family":"enlarged capital femoral epiphyses"},{"family":"enlarged end part of innermost thighbone"},{"family":"An abnormal enlargement of the proximal epiphysis of the femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003371","type":"entry-dictionary","title":"Enlargement of the proximal femoral epiphysis"},{"container-title":"HP:0003375","author":[{"family":"narrow sciatic notches"},{"family":"small sacrosciatic notches"},{"family":"narrow sacrosciatic notch"},{"family":"narrowed sacrosciatic notch"},{"family":"narrowed greater sciatic notch"},{"family":"A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003375","type":"entry-dictionary","title":"Narrow greater sacrosciatic notches"},{"container-title":"HP:0003376","author":[{"family":"'steppage' gait"},{"family":"high stepping"},{"family":"An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003376","type":"entry-dictionary","title":"Steppage gait"},{"container-title":"HP:0003378","author":[{"family":"axon degeneration and regeneration"},{"family":"A pattern of simultaneous degeneration and regeneration of axons (see comment)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003378","type":"entry-dictionary","title":"Axonal degeneration\/regeneration"},{"container-title":"HP:0003380","author":[{"family":"decreased number of large and small myelinated fibers"},{"family":"loss of myelinated fibers"},{"family":"A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003380","type":"entry-dictionary","title":"Decreased number of peripheral myelinated nerve fibers"},{"container-title":"HP:0003382","author":[{"family":"Hypertrophic nerve changes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003382","type":"entry-dictionary","title":"Hypertrophic nerve changes"},{"container-title":"HP:0003383","author":[{"family":"'onion bulb' formations"},{"family":"onion bulb formations"},{"family":"Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003383","type":"entry-dictionary","title":"Onion bulb formation"},{"container-title":"HP:0003384","author":[{"family":"Atrophic changes of axons of the peripheral nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003384","type":"entry-dictionary","title":"Peripheral axonal atrophy"},{"container-title":"HP:0003387","author":[{"family":"loss of large myelinated fibers"},{"family":"depletion of large myelinated fibers"},{"family":"loss of larger myelinated nerve fibers"},{"family":"A reduced number of large myelinated nerve fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003387","type":"entry-dictionary","title":"Decreased number of large peripheral myelinated nerve fibers"},{"container-title":"HP:0003388","author":[{"family":"tired easily"},{"family":"Increased susceptibility to fatigue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003388","type":"entry-dictionary","title":"Easy fatigability"},{"container-title":"HP:0003390","author":[{"family":"peripheral sensory axonal neuropathy"},{"family":"axonal sensory neuropathy"},{"family":"An axonal neuropathy of peripheral sensory nerves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003390","type":"entry-dictionary","title":"Sensory axonal neuropathy"},{"container-title":"HP:0003391","author":[{"family":"positive gowers sign"},{"family":"positive gower sign"},{"family":"A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003391","type":"entry-dictionary","title":"Gowers sign"},{"container-title":"HP:0003392","author":[{"family":"First dorsal interossei muscle weakness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003392","type":"entry-dictionary","title":"First dorsal interossei muscle weakness"},{"container-title":"HP:0200003","author":[{"family":"splayed end part of bone"},{"family":"Flaring (widening) of the epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200003","type":"entry-dictionary","title":"Splayed epiphyses"},{"container-title":"HP:0003393","author":[{"family":"Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003393","type":"entry-dictionary","title":"Thenar muscle atrophy"},{"container-title":"HP:0003394","author":[{"family":"Sudden and involuntary contractions of one or more muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003394","type":"entry-dictionary","title":"Muscle cramps"},{"container-title":"HP:0200001","author":[{"family":"A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200001","type":"entry-dictionary","title":"Dysharmonic accelerated bone age"},{"container-title":"HP:0200000","author":[{"family":"dysharmonic skeletal maturation"},{"family":"Different levels of maturation of different bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200000","type":"entry-dictionary","title":"Dysharmonic bone age"},{"container-title":"HP:0003396","author":[{"family":"syrinx"},{"family":"Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003396","type":"entry-dictionary","title":"Syringomyelia"},{"container-title":"HP:0200007","author":[{"family":"abnormal size of the eyes"},{"family":"abnormal size of the opening between the eyelids"},{"family":"An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200007","type":"entry-dictionary","title":"Abnormal size of the palpebral fissures"},{"container-title":"HP:0003397","author":[{"family":"Generalized hypotonia due to defect at the neuromuscular junction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003397","type":"entry-dictionary","title":"Generalized hypotonia due to defect at the neuromuscular junction"},{"container-title":"HP:0200006","author":[{"family":"slanting of the opening between the eyelids"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200006","type":"entry-dictionary","title":"Slanting of the palpebral fissure"},{"container-title":"HP:0003398","author":[{"family":"abnormality of neuromuscular transmission"},{"family":"Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003398","type":"entry-dictionary","title":"Abnormal synaptic transmission at the neuromuscular junction"},{"container-title":"HP:0200005","author":[{"family":"abnormal morphology of the palpebral fissure"},{"family":"abnormal shape of the opening between the eyelids"},{"family":"The presence of an abnormal shape of the palpebral fissure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200005","type":"entry-dictionary","title":"Abnormal shape of the palpebral fissure"},{"container-title":"HP:0003400","author":[{"family":"basal lamina 'onion bulb' formations on nerve biopsy"},{"family":"A type of onion bulb formation prominently affecting the area of the basal lamina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003400","type":"entry-dictionary","title":"Basal lamina 'onion bulb' formation"},{"container-title":"HP:0200011","author":[{"family":"Abnormal length of corpus callosum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200011","type":"entry-dictionary","title":"Abnormal length of corpus callosum"},{"container-title":"HP:0003401","author":[{"family":"paresthesias"},{"family":"pins and needles feeling"},{"family":"tingling"},{"family":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003401","type":"entry-dictionary","title":"Paresthesia"},{"container-title":"HP:0003402","author":[{"family":"small miniature endplate potentials"},{"family":"small miniature endplate currents"},{"family":"decreased mepp"},{"family":"An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003402","type":"entry-dictionary","title":"Decreased miniature endplate potentials"},{"container-title":"HP:0003403","author":[{"family":"emg: decremental response of cmap to repetitive nerve stimulation"},{"family":"emg: decrement at repetitive stimulation"},{"family":"A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003403","type":"entry-dictionary","title":"EMG: decremental response of compound muscle action potential to repetitive nerve stimulation"},{"container-title":"HP:0200008","author":[{"family":"multiple intestinal polyps"},{"family":"gastrointestinal polyps"},{"family":"The presence of multiple polyps in the intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200008","type":"entry-dictionary","title":"Intestinal polyposis"},{"container-title":"HP:0200015","author":[{"family":"Symmetric great toe depigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200015","type":"entry-dictionary","title":"Symmetric great toe depigmentation"},{"container-title":"HP:0003405","author":[{"family":"Diffuse axonal swelling"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003405","type":"entry-dictionary","title":"Diffuse axonal swelling"},{"container-title":"HP:0003406","author":[{"family":"Peripheral nerve compression"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003406","type":"entry-dictionary","title":"Peripheral nerve compression"},{"container-title":"HP:0200013","author":[{"family":"tumor of fatty tissue"},{"family":"A tumor (abnormal growth of tissue) of adipose tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200013","type":"entry-dictionary","title":"Neoplasm of fatty tissue"},{"container-title":"HP:0200012","author":[{"family":"Short corpus callosum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200012","type":"entry-dictionary","title":"Short corpus callosum"},{"container-title":"HP:0003409","author":[{"family":"distal sensory loss to all modalities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003409","type":"entry-dictionary","title":"Distal sensory impairment of all modalities"},{"container-title":"HP:0200018","author":[{"family":"red-weak"},{"family":"colorblindness, partial, protan series"},{"family":"A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200018","type":"entry-dictionary","title":"Protanomaly"},{"container-title":"HP:0200017","author":[{"family":"agenesis of the cerebral white matter"},{"family":"white matter agenesis"},{"family":"Congenital defect with failure of the development of the cerebral white matter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200017","type":"entry-dictionary","title":"Cerebral white matter agenesis"},{"container-title":"HP:0003411","author":[{"family":"irregular proximal femoral metaphyses"},{"family":"Irregularity of the normally smooth surface of the proximal metaphysis of the femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003411","type":"entry-dictionary","title":"Proximal femoral metaphyseal irregularity"},{"container-title":"HP:0200016","author":[{"family":"acral keratosis"},{"family":"Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200016","type":"entry-dictionary","title":"Acrokeratosis"},{"container-title":"HP:0200023","author":[{"family":"hulseyism"},{"family":"A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200023","type":"entry-dictionary","title":"Priapism"},{"container-title":"HP:0003413","author":[{"family":"An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003413","type":"entry-dictionary","title":"Atlantoaxial abnormality"},{"container-title":"HP:0200022","author":[{"family":"Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200022","type":"entry-dictionary","title":"Choroid plexus papilloma"},{"container-title":"HP:0003414","author":[{"family":"atlantoaxial subluxation"},{"family":"atlanto-axial subluxation"},{"family":"Partial dislocation of the atlantoaxial joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003414","type":"entry-dictionary","title":"Atlantoaxial dislocation"},{"container-title":"HP:0200021","author":[{"family":"down-sloping shoulders"},{"family":"rounded shoulders"},{"family":"rounded, sloping shoulders"},{"family":"Low set, steeply sloping shoulders."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200021","type":"entry-dictionary","title":"Down-sloping shoulders"},{"container-title":"HP:0200020","author":[{"family":"An erosion or abrasion of the cornea's outermost layer of epithelial cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200020","type":"entry-dictionary","title":"Corneal erosion"},{"container-title":"HP:0003416","author":[{"family":"narrow spinal canal"},{"family":"spinal stenosis"},{"family":"An abnormal narrowing of the spinal canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003416","type":"entry-dictionary","title":"Spinal canal stenosis"},{"container-title":"HP:0003417","author":[{"family":"coronal vertebral clefts"},{"family":"coronal cleft of vertebrae"},{"family":"vertebral coronal clefts"},{"family":"Frontal schisis (cleft or cleavage) of vertebral bodies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003417","type":"entry-dictionary","title":"Coronal cleft vertebrae"},{"container-title":"HP:0200026","author":[{"family":"eye pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200026","type":"entry-dictionary","title":"Ocular pain"},{"container-title":"HP:0003418","author":[{"family":"back pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003418","type":"entry-dictionary","title":"Back pain"},{"container-title":"HP:0200025","author":[{"family":"lower jaw pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200025","type":"entry-dictionary","title":"Mandibular pain"},{"container-title":"HP:0003419","author":[{"family":"lower back pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003419","type":"entry-dictionary","title":"Low back pain"},{"container-title":"HP:0200024","author":[{"family":"The presence of premature sister chromatid segregation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200024","type":"entry-dictionary","title":"Premature chromatid separation"},{"container-title":"HP:0200030","author":[{"family":"Punctate vasculitis skin lesions"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200030","type":"entry-dictionary","title":"Punctate vasculitis skin lesions"},{"container-title":"HP:0003422","author":[{"family":"abnormal spinal segmentation"},{"family":"An abnormality related to a defect of vertebral separation during development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003422","type":"entry-dictionary","title":"Vertebral segmentation defect"},{"container-title":"HP:0200029","author":[{"family":"cutaneous vasculitis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200029","type":"entry-dictionary","title":"Vasculitis in the skin"},{"container-title":"HP:0003423","author":[{"family":"dorsolumbar kyphosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003423","type":"entry-dictionary","title":"Thoracolumbar kyphoscoliosis"},{"container-title":"HP:0200028","author":[{"family":"graves dermopathy"},{"family":"A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200028","type":"entry-dictionary","title":"Pretibial myxedema"},{"container-title":"HP:0200035","author":[{"family":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200035","type":"entry-dictionary","title":"Skin plaque"},{"container-title":"HP:0200034","author":[{"family":"skin papules"},{"family":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200034","type":"entry-dictionary","title":"Papule"},{"container-title":"HP:0003426","author":[{"family":"First dorsal interossei muscle atrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003426","type":"entry-dictionary","title":"First dorsal interossei muscle atrophy"},{"container-title":"HP:0003427","author":[{"family":"Thenar muscle weakness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003427","type":"entry-dictionary","title":"Thenar muscle weakness"},{"container-title":"HP:0200032","author":[{"family":"fleischer-kayser ring"},{"family":"fleischer's ring"},{"family":"fleischer-struempell ring"},{"family":"Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200032","type":"entry-dictionary","title":"Kayser-Fleischer ring"},{"container-title":"HP:0200039","author":[{"family":"skin pustules"},{"family":"pimple"},{"family":"pustula"},{"family":"A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200039","type":"entry-dictionary","title":"Pustule"},{"container-title":"HP:0003429","author":[{"family":"hypomyelination"},{"family":"Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003429","type":"entry-dictionary","title":"CNS hypomyelination"},{"container-title":"HP:0200037","author":[{"family":"blister"},{"family":"A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200037","type":"entry-dictionary","title":"Skin vesicle"},{"container-title":"HP:0003431","author":[{"family":"reduced motor nerve conduction velocity"},{"family":"decreased motor nerve conduction velocities"},{"family":"decreased motor ncv"},{"family":"A type of decreased nerve conduction velocity that affects the motor neuron."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003431","type":"entry-dictionary","title":"Decreased motor nerve conduction velocity"},{"container-title":"HP:0200036","author":[{"family":"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200036","type":"entry-dictionary","title":"Skin nodule"},{"container-title":"HP:0200043","author":[{"family":"warts"},{"family":"Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200043","type":"entry-dictionary","title":"Verrucae"},{"container-title":"HP:0200042","author":[{"family":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200042","type":"entry-dictionary","title":"Skin ulcer"},{"container-title":"HP:0003434","author":[{"family":"Sensory ataxic neuropathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003434","type":"entry-dictionary","title":"Sensory ataxic neuropathy"},{"container-title":"HP:0200041","author":[{"family":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200041","type":"entry-dictionary","title":"Skin erosion"},{"container-title":"HP:0003435","author":[{"family":"Cold-induced hand cramps"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003435","type":"entry-dictionary","title":"Cold-induced hand cramps"},{"container-title":"HP:0200040","author":[{"family":"epidermal cyst"},{"family":"sebaceous cyst"},{"family":"infundibular cyst"},{"family":"skin cyst"},{"family":"epidermal inclusion cyst"},{"family":"epidermoid cysts"},{"family":"keratin cyst"},{"family":"Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200040","type":"entry-dictionary","title":"Epidermoid cyst"},{"container-title":"HP:0003436","author":[{"family":"prolonged miniature endplate potentials"},{"family":"prolonged mepp"},{"family":"prolonged mepc"},{"family":"An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003436","type":"entry-dictionary","title":"Prolonged miniature endplate currents"},{"container-title":"HP:0200047","author":[{"family":"inflammation of cartilage of pinna"},{"family":"Inflammation of the cartilage of the external ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200047","type":"entry-dictionary","title":"Chondritis of pinna"},{"container-title":"HP:0200046","author":[{"family":"cat cry"},{"family":"cat-like cry"},{"family":"cri de chat-associated cry"},{"family":"The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200046","type":"entry-dictionary","title":"Cat cry"},{"container-title":"HP:0003438","author":[{"family":"absent ankle reflexes"},{"family":"Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003438","type":"entry-dictionary","title":"Absent Achilles reflex"},{"container-title":"HP:0200044","author":[{"family":"A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200044","type":"entry-dictionary","title":"Porokeratosis"},{"container-title":"HP:0003440","author":[{"family":"Horizontal sacrum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003440","type":"entry-dictionary","title":"Horizontal sacrum"},{"container-title":"HP:0200050","author":[{"family":"bracket shaped end part of long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200050","type":"entry-dictionary","title":"Bracket metacarpal epiphyses"},{"container-title":"HP:0200049","author":[{"family":"Upper limb hypertonia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200049","type":"entry-dictionary","title":"Upper limb hypertonia"},{"container-title":"HP:0003443","author":[{"family":"A reduction in the size of nerve terminals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003443","type":"entry-dictionary","title":"Decreased size of nerve terminals"},{"container-title":"HP:0200048","author":[{"family":"Cyanotic episode"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200048","type":"entry-dictionary","title":"Cyanotic episode"},{"container-title":"HP:0003444","author":[{"family":"Evidence of chronic denervation on electromyography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003444","type":"entry-dictionary","title":"EMG: chronic denervation signs"},{"container-title":"HP:0200055","author":[{"family":"disproportionately small hands"},{"family":"Disproportionately small hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200055","type":"entry-dictionary","title":"Small hand"},{"container-title":"HP:0003445","author":[{"family":"emg: neurogenic abnormalities"},{"family":"emg: neurogenic findings"},{"family":"emg: neurogenic changes"},{"family":"The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003445","type":"entry-dictionary","title":"EMG: neuropathic changes"},{"container-title":"HP:0200054","author":[{"family":"Foot monodactyly"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200054","type":"entry-dictionary","title":"Foot monodactyly"},{"container-title":"HP:0200053","author":[{"family":"asymmetric leg shortening"},{"family":"asymmetric lower limb shortness"},{"family":"Shortening of a leg affecting only one side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200053","type":"entry-dictionary","title":"Hemihypotrophy of lower limb"},{"container-title":"HP:0003447","author":[{"family":"A reduction in the number of axons in the peripheral nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003447","type":"entry-dictionary","title":"Axonal loss"},{"container-title":"HP:0003448","author":[{"family":"decreased sensory nerve conduction velocities"},{"family":"decreased sensory ncv"},{"family":"Reduced speed of conduction of the action potential along a sensory nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003448","type":"entry-dictionary","title":"Decreased sensory nerve conduction velocity"},{"container-title":"HP:0200059","author":[{"family":"Metastatic angiosarcoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200059","type":"entry-dictionary","title":"Metastatic angiosarcoma"},{"container-title":"HP:0003449","author":[{"family":"Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003449","type":"entry-dictionary","title":"Cold-induced muscle cramps"},{"container-title":"HP:0200058","author":[{"family":"Angiosarcoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200058","type":"entry-dictionary","title":"Angiosarcoma"},{"container-title":"HP:0003450","author":[{"family":"regenerative activity on nerve biopsy"},{"family":"The presence of axonal regeneration following a previous axonal lesion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003450","type":"entry-dictionary","title":"Axonal regeneration"},{"container-title":"HP:0200057","author":[{"family":"relative afferent pupillary defect"},{"family":"relative afferent pupil defect"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200057","type":"entry-dictionary","title":"Marcus Gunn pupil"},{"container-title":"HP:0003451","author":[{"family":"An increased rate of premature chromosome condensation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003451","type":"entry-dictionary","title":"Increased rate of premature chromosome condensation"},{"container-title":"HP:0200056","author":[{"family":"macular scarring"},{"family":"Scar tissue in the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200056","type":"entry-dictionary","title":"Macular scar"},{"container-title":"HP:0003452","author":[{"family":"Increased serum iron"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003452","type":"entry-dictionary","title":"Increased serum iron"},{"container-title":"HP:0200063","author":[{"family":"colorectal polyps"},{"family":"Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200063","type":"entry-dictionary","title":"Colorectal polyposis"},{"container-title":"HP:0003453","author":[{"family":"antineutrophil antibodies"},{"family":"neutrophil antibody positive"},{"family":"The presence of autoantibodies in the serum that react against neutrophils."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003453","type":"entry-dictionary","title":"Antineutrophil antibody positivity"},{"container-title":"HP:0003454","author":[{"family":"platelet antibody"},{"family":"The presence in the serum of autoantibodies directed against thrombocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003454","type":"entry-dictionary","title":"Platelet antibody positive"},{"container-title":"HP:0003455","author":[{"family":"Increased concentration of long-chain fatty acid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003455","type":"entry-dictionary","title":"Elevated long chain fatty acids"},{"container-title":"HP:0003456","author":[{"family":"Low urinary cyclic AMP response to PTH administration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003456","type":"entry-dictionary","title":"Low urinary cyclic AMP response to PTH administration"},{"container-title":"HP:0200067","author":[{"family":"spontaneous abortion, recurrent"},{"family":"Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200067","type":"entry-dictionary","title":"Recurrent spontaneous abortion"},{"container-title":"HP:0003457","author":[{"family":"emg abnormalities"},{"family":"abnormal emg"},{"family":"electromyogram abnormal"},{"family":"abnormal electromyography finding"},{"family":"Abnormal results of investigations using electromyography (EMG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003457","type":"entry-dictionary","title":"EMG abnormality"},{"container-title":"HP:0200066","author":[{"family":"Ribbonlike corneal degeneration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200066","type":"entry-dictionary","title":"Ribbonlike corneal degeneration"},{"container-title":"HP:0003458","author":[{"family":"myopathic electromyogram"},{"family":"emg: myopathy"},{"family":"emg: myopathic changes"},{"family":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003458","type":"entry-dictionary","title":"EMG: myopathic abnormalities"},{"container-title":"HP:0200065","author":[{"family":"Chorioretinal degeneration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200065","type":"entry-dictionary","title":"Chorioretinal degeneration"},{"container-title":"HP:0003459","author":[{"family":"A gammopathy in which there is a heterogeneous increase in IgM immunoglobulins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003459","type":"entry-dictionary","title":"Polyclonal elevation of IgM"},{"container-title":"HP:0200064","author":[{"family":"Asymmetry between the two irides or asymmetry between different parts of one iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200064","type":"entry-dictionary","title":"Asymmetry of iris pigmentation"},{"container-title":"HP:0003460","author":[{"family":"Undetectable serum immunoglobulin A level at a value < 5 mg\/dL (0.05 g\/L)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003460","type":"entry-dictionary","title":"Total immunoglobulin A deficiency"},{"container-title":"HP:0200071","author":[{"family":"A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200071","type":"entry-dictionary","title":"Peripheral vitreoretinal degeneration"},{"container-title":"HP:0003461","author":[{"family":"Excretion of peptides conjugated to sialic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003461","type":"entry-dictionary","title":"Increased urinary O-linked sialopeptides"},{"container-title":"HP:0200070","author":[{"family":"wasting of the outer part of the retina"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200070","type":"entry-dictionary","title":"Peripheral retinal atrophy"},{"container-title":"HP:0003462","author":[{"family":"Elevated 8-dehydrocholesterol"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003462","type":"entry-dictionary","title":"Elevated 8-dehydrocholesterol"},{"container-title":"HP:0003463","author":[{"family":"lipopigment in extraneuronal cells"},{"family":"Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003463","type":"entry-dictionary","title":"Increased extraneuronal autofluorescent lipopigment"},{"container-title":"HP:0200068","author":[{"family":"decreased visual acuity, nonprogressive"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200068","type":"entry-dictionary","title":"Nonprogressive visual loss"},{"container-title":"HP:0003464","author":[{"family":"Abnormal cholesterol homeostasis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003464","type":"entry-dictionary","title":"Abnormal cholesterol homeostasis"},{"container-title":"HP:0003465","author":[{"family":"Elevated 8(9)-cholestenol"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003465","type":"entry-dictionary","title":"Elevated 8(9)-cholestenol"},{"container-title":"HP:0003466","author":[{"family":"Paradoxical increased cortisol secretion on dexamethasone suppression test"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003466","type":"entry-dictionary","title":"Paradoxical increased cortisol secretion on dexamethasone suppression test"},{"container-title":"HP:0200073","author":[{"family":"Respiratory insufficiency due to defective ciliary clearance"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200073","type":"entry-dictionary","title":"Respiratory insufficiency due to defective ciliary clearance"},{"container-title":"HP:0003467","author":[{"family":"Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003467","type":"entry-dictionary","title":"Atlantoaxial instability"},{"container-title":"HP:0200072","author":[{"family":"quadriplegia, episodic"},{"family":"Intermittent episodes of paralysis of all four limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200072","type":"entry-dictionary","title":"Episodic quadriplegia"},{"container-title":"HP:0003468","author":[{"family":"abnormal vertebral bodies"},{"family":"abnormal vertebrae"},{"family":"abnormality of the vertebrae"},{"family":"multiple vertebral anomalies"},{"family":"An abnormality of one or more of the vertebrae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003468","type":"entry-dictionary","title":"Abnormal vertebral morphology"},{"container-title":"HP:0003469","author":[{"family":"Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003469","type":"entry-dictionary","title":"Peripheral dysmyelination"},{"container-title":"HP:0003470","author":[{"family":"inability to move"},{"family":"paralysis"},{"family":"Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003470","type":"entry-dictionary","title":"Paralysis"},{"container-title":"HP:0003472","author":[{"family":"Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003472","type":"entry-dictionary","title":"Hypocalcemic tetany"},{"container-title":"HP:0200083","author":[{"family":"severe limb shortening"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200083","type":"entry-dictionary","title":"Severe limb shortening"},{"container-title":"HP:0003473","author":[{"family":"myasthenia"},{"family":"proximal muscle weakness due to defect at the neuromuscular junction"},{"family":"generalized muscle weakness due to defect at the neuromuscular junction"},{"family":"myasthenic weakness"},{"family":"fatigable weakness of limb muscles"},{"family":"A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003473","type":"entry-dictionary","title":"Fatigable weakness"},{"container-title":"HP:0003474","author":[{"family":"hypoesthesia"},{"family":"hypoaesthesia"},{"family":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hyesthesia) refers to a reduction in cutaneous sensation to a specific type of testing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003474","type":"entry-dictionary","title":"Sensory impairment"},{"container-title":"HP:0003477","author":[{"family":"axonal neuropathy"},{"family":"axonal peripheral neuropathy"},{"family":"An abnormality characterized by disruption of the normal functioning of peripheral axons."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003477","type":"entry-dictionary","title":"Peripheral axonal neuropathy"},{"container-title":"HP:0200085","author":[{"family":"involuntary shaking of limb"},{"family":"tremor of limbs"},{"family":"limb tremor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200085","type":"entry-dictionary","title":"Limb tremor"},{"container-title":"HP:0200084","author":[{"family":"giant cell hepatitis on biopsy"},{"family":"giant cell hepatitis shown on biopsy"},{"family":"giant cell hepatitis on liver biopsy"},{"family":"Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200084","type":"entry-dictionary","title":"Giant cell hepatitis"},{"container-title":"HP:0003481","author":[{"family":"segmental demyelination\/remyelination"},{"family":"A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003481","type":"entry-dictionary","title":"Segmental peripheral demyelination\/remyelination"},{"container-title":"HP:0003482","author":[{"family":"Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003482","type":"entry-dictionary","title":"EMG: axonal abnormality"},{"container-title":"HP:0003484","author":[{"family":"Weakness of the muscles of the arms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003484","type":"entry-dictionary","title":"Upper limb muscle weakness"},{"container-title":"HP:0200095","author":[{"family":"Anterior open bite"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200095","type":"entry-dictionary","title":"Anterior open bite"},{"container-title":"HP:0200094","author":[{"family":"Frontal open bite"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200094","type":"entry-dictionary","title":"Frontal open bite"},{"container-title":"HP:0003487","author":[{"family":"extensor plantar reflexes"},{"family":"extensor plantar responses"},{"family":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003487","type":"entry-dictionary","title":"Babinski sign"},{"container-title":"HP:0003489","author":[{"family":"Acute episodes of neuropathic symptoms"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003489","type":"entry-dictionary","title":"Acute episodes of neuropathic symptoms"},{"container-title":"HP:0200098","author":[{"family":"absent skin pigmentation"},{"family":"lack of skin coloration"},{"family":"Lack of skin pigmentation (coloring)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200098","type":"entry-dictionary","title":"Absent skin pigmentation"},{"container-title":"HP:0003490","author":[{"family":"Defective dehydrogenation of isovaleryl CoA and butyryl CoA"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003490","type":"entry-dictionary","title":"Defective dehydrogenation of isovaleryl CoA and butyryl CoA"},{"container-title":"HP:0200097","author":[{"family":"oral mucosal blisters"},{"family":"bullae of oral mucosa"},{"family":"blebs of oral mucosa"},{"family":"blisters of mouth"},{"family":"oral mucosa blisters"},{"family":"Blisters arising in the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200097","type":"entry-dictionary","title":"Oral mucosal blisters"},{"container-title":"HP:0003491","author":[{"family":"An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003491","type":"entry-dictionary","title":"Elevated urine pyrophosphate"},{"container-title":"HP:0200096","author":[{"family":"triangular-shaped open mouth"},{"family":"A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200096","type":"entry-dictionary","title":"Triangular-shaped open mouth"},{"container-title":"HP:0003492","author":[{"family":"An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003492","type":"entry-dictionary","title":"High urinary gonadotropin level"},{"container-title":"HP:0003493","author":[{"family":"elevated antinuclear antibody"},{"family":"antinuclear antibodies"},{"family":"serum antinuclear antibody"},{"family":"antinuclear antibody positive"},{"family":"The presence of autoantibodies in the serum that react against nuclei or nuclear components."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003493","type":"entry-dictionary","title":"Antinuclear antibody positivity"},{"container-title":"HP:0200102","author":[{"family":"sparse or absent eyelashes"},{"family":"partial to total absence of eyelashes"},{"family":"sparse to absent eyelashes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200102","type":"entry-dictionary","title":"Sparse or absent eyelashes"},{"container-title":"HP:0200101","author":[{"family":"decreased\/absent ankle reflexes"},{"family":"decreased or absent ankle reflexes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200101","type":"entry-dictionary","title":"Decreased\/absent ankle reflexes"},{"container-title":"HP:0003495","author":[{"family":"GM2-ganglioside accumulation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003495","type":"entry-dictionary","title":"GM2-ganglioside accumulation"},{"container-title":"HP:0003496","author":[{"family":"increased igm levels"},{"family":"increased levels of igm"},{"family":"An abnormally increased level of immunoglobulin M in blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003496","type":"entry-dictionary","title":"Increased IgM level"},{"container-title":"HP:0200107","author":[{"family":"Shortened inner dynein arms"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200107","type":"entry-dictionary","title":"Shortened inner dynein arms"},{"container-title":"HP:0200106","author":[{"family":"Absent\/shortened dynein arms"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200106","type":"entry-dictionary","title":"Absent\/shortened dynein arms"},{"container-title":"HP:0003498","author":[{"family":"short stature, severe disproportionate"},{"family":"short stature, disproportionate"},{"family":"A kind of short stature in which different regions of the body are shortened to differing extents."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003498","type":"entry-dictionary","title":"Disproportionate short stature"},{"container-title":"HP:0200105","author":[{"family":"absent fifth toenail"},{"family":"missing fifth toenail"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200105","type":"entry-dictionary","title":"Absent fifth toenail"},{"container-title":"HP:0200104","author":[{"family":"absent fifth fingernail"},{"family":"absent nail of fifth finger"},{"family":"Absence of nail of little finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200104","type":"entry-dictionary","title":"Absent fifth fingernail"},{"container-title":"HP:0200111","author":[{"family":"Absent stapes head"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200111","type":"entry-dictionary","title":"Absent stapes head"},{"container-title":"HP:0003502","author":[{"family":"relative short stature"},{"family":"short stature, mild"},{"family":"A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003502","type":"entry-dictionary","title":"Mild short stature"},{"container-title":"HP:0200109","author":[{"family":"respiratory cilia have shortened or absent outer dynein arms"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200109","type":"entry-dictionary","title":"Absent\/shortened outer dynein arms"},{"container-title":"HP:0200108","author":[{"family":"Shortened outer dynein arms"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200108","type":"entry-dictionary","title":"Shortened outer dynein arms"},{"container-title":"HP:0200114","author":[{"family":"Metabolic alkalosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200114","type":"entry-dictionary","title":"Metabolic alkalosis"},{"container-title":"HP:0200113","author":[{"family":"aphalangy, hands and feet"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200113","type":"entry-dictionary","title":"Aphalangy of hands and feet"},{"container-title":"HP:0003508","author":[{"family":"proportionate small stature"},{"family":"short stature, proportionate"},{"family":"A kind of short stature in which different regions of the body are shortened to a comparable extent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003508","type":"entry-dictionary","title":"Proportionate short stature"},{"container-title":"HP:0200119","author":[{"family":"acute liver inflammation"},{"family":"Short-term infection iwith one of the five hepatitis viruses that causes inflammation of the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200119","type":"entry-dictionary","title":"Acute hepatitis"},{"container-title":"HP:0200118","author":[{"family":"vitamin b12 deficiency caused by intestinal malabsorption"},{"family":"malabsorption of cyanocobalamin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200118","type":"entry-dictionary","title":"Malabsorption of Vitamin B12"},{"container-title":"HP:0003510","author":[{"family":"proportionate dwarfism"},{"family":"severe short stature"},{"family":"short stature, severe"},{"family":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003510","type":"entry-dictionary","title":"Severe short stature"},{"container-title":"HP:0200117","author":[{"family":"Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200117","type":"entry-dictionary","title":"Recurrent upper and lower respiratory tract infections"},{"container-title":"HP:0200116","author":[{"family":"Distal ileal atresia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200116","type":"entry-dictionary","title":"Distal ileal atresia"},{"container-title":"HP:0200123","author":[{"family":"chronic liver inflammation"},{"family":"Hepatitis that lasts for more than six months."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200123","type":"entry-dictionary","title":"Chronic hepatitis"},{"container-title":"HP:0003513","author":[{"family":"A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003513","type":"entry-dictionary","title":"Reduced ratio of renal calcium clearance to creatinine clearance"},{"container-title":"HP:0200122","author":[{"family":"atypical or prolonged liver inflammation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200122","type":"entry-dictionary","title":"Atypical or prolonged hepatitis"},{"container-title":"HP:0003514","author":[{"family":"deficiency or absence of cytochrome b"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003514","type":"entry-dictionary","title":"Deficiency or absence of cytochrome b(-245)"},{"container-title":"HP:0200120","author":[{"family":"hepatitis, chronic active"},{"family":"Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200120","type":"entry-dictionary","title":"Chronic active hepatitis"},{"container-title":"HP:0200127","author":[{"family":"Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200127","type":"entry-dictionary","title":"Atrial cardiomyopathy"},{"container-title":"HP:0003517","author":[{"family":"Birth length greater than 97th percentile"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003517","type":"entry-dictionary","title":"Birth length greater than 97th percentile"},{"container-title":"HP:0200125","author":[{"family":"Mitochondrial respiratory chain defects"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200125","type":"entry-dictionary","title":"Mitochondrial respiratory chain defects"},{"container-title":"HP:0200124","author":[{"family":"hepatitis, chronic, due to cryptosporidium infection"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200124","type":"entry-dictionary","title":"Chronic hepatitis due to cryptosporidium infection"},{"container-title":"HP:0003521","author":[{"family":"disproportionate short-trunked short stature"},{"family":"disproportionate short-trunked dwarfism"},{"family":"A type of disproportionate short stature characterized by a short trunk but a average-sized limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003521","type":"entry-dictionary","title":"Disproportionate short-trunk short stature"},{"container-title":"HP:0200128","author":[{"family":"Thickening of the heart walls in both ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200128","type":"entry-dictionary","title":"Biventricular hypertrophy"},{"container-title":"HP:0003524","author":[{"family":"methionine synthase deficiency"},{"family":"decreased activity of methionine synthase"},{"family":"reduced methionine synthase activity"},{"family":"methionine synthetase activity decreased"},{"family":"A reduction in methionine synthase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003524","type":"entry-dictionary","title":"Decreased methionine synthase activity"},{"container-title":"HP:0200134","author":[{"family":"Epileptic encephalopathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200134","type":"entry-dictionary","title":"Epileptic encephalopathy"},{"container-title":"HP:0003526","author":[{"family":"Formation of crystals owing to an increased concentration of orotic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003526","type":"entry-dictionary","title":"Orotic acid crystalluria"},{"container-title":"HP:0200133","author":[{"family":"Lumbosacral meningocele"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200133","type":"entry-dictionary","title":"Lumbosacral meningocele"},{"container-title":"HP:0003527","author":[{"family":"high urine prostaglandin levels"},{"family":"An increased concentration of prostaglandin in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003527","type":"entry-dictionary","title":"Hyperprostaglandinuria"},{"container-title":"HP:0003528","author":[{"family":"elevated calcitonin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003528","type":"entry-dictionary","title":"Elevated calcitonin"},{"container-title":"HP:0003529","author":[{"family":"An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003529","type":"entry-dictionary","title":"Parathormone-independent increased renal tubular calcium reabsorption"},{"container-title":"HP:0200138","author":[{"family":"Bilateral choanal atresia\/stenosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200138","type":"entry-dictionary","title":"Bilateral choanal atresia\/stenosis"},{"container-title":"HP:0003530","author":[{"family":"An increased concentration of glutaric acid in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003530","type":"entry-dictionary","title":"Glutaric acidemia"},{"container-title":"HP:0200136","author":[{"family":"oral pharyngeal dysphagia"},{"family":"oropharyngeal dysphagia"},{"family":"difficulty swallowing"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200136","type":"entry-dictionary","title":"Oral-pharyngeal dysphagia"},{"container-title":"HP:0003532","author":[{"family":"An increased concentration of ornithine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003532","type":"entry-dictionary","title":"Ornithinuria"},{"container-title":"HP:0200143","author":[{"family":"bone marrow biopsy shows megaloblastic erythroid hyperplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200143","type":"entry-dictionary","title":"Megaloblastic erythroid hyperplasia"},{"container-title":"HP:0003533","author":[{"family":"Delayed oxidation of acetaldehyde"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003533","type":"entry-dictionary","title":"Delayed oxidation of acetaldehyde"},{"container-title":"HP:0003534","author":[{"family":"xanthine dehydrogenase deficiency"},{"family":"An abnormal reduction in xanthine dehydrogenase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003534","type":"entry-dictionary","title":"Reduced xanthine dehydrogenase activity"},{"container-title":"HP:0200141","author":[{"family":"small, cone shaped teeth"},{"family":"small, peg shaped teeth"},{"family":"conical microdontia"},{"family":"small, pointed teeth"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200141","type":"entry-dictionary","title":"Small, conical teeth"},{"container-title":"HP:0003535","author":[{"family":"3-Methylglutaconic aciduria"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003535","type":"entry-dictionary","title":"3-Methylglutaconic aciduria"},{"container-title":"HP:0003536","author":[{"family":"An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003536","type":"entry-dictionary","title":"Decreased fumarate hydratase activity"},{"container-title":"HP:0200147","author":[{"family":"A reduction in the number of nerve cells in the basal ganglia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200147","type":"entry-dictionary","title":"Neuronal loss in basal ganglia"},{"container-title":"HP:0003537","author":[{"family":"low blood uric acid levels"},{"family":"An abnormally low level of uric acid in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003537","type":"entry-dictionary","title":"Hypouricemia"},{"container-title":"HP:0200146","author":[{"family":"Cystic medial necrosis of the aorta"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200146","type":"entry-dictionary","title":"Cystic medial necrosis of the aorta"},{"container-title":"HP:0003538","author":[{"family":"increased serum iduronate sulfatase"},{"family":"An increased rate of iduronate-2-sulfatase activity in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003538","type":"entry-dictionary","title":"Increased serum iduronate sulfatase activity"},{"container-title":"HP:0003540","author":[{"family":"defective platelet aggregation"},{"family":"deficient platelet aggregation"},{"family":"platelet aggregation defect"},{"family":"An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003540","type":"entry-dictionary","title":"Impaired platelet aggregation"},{"container-title":"HP:0200151","author":[{"family":"Multifocal dense infiltrates of mast cells in cutaneous tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200151","type":"entry-dictionary","title":"Cutaneous mastocytosis"},{"container-title":"HP:0003541","author":[{"family":"Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003541","type":"entry-dictionary","title":"Urinary glycosaminoglycan excretion"},{"container-title":"HP:0200150","author":[{"family":"increased serum bile acid concentration during pregnancy, resolves"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200150","type":"entry-dictionary","title":"Increased serum bile acid concentration during pregnancy"},{"container-title":"HP:0003542","author":[{"family":"An increased concentration of pyruvate in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003542","type":"entry-dictionary","title":"Increased serum pyruvate"},{"container-title":"HP:0200149","author":[{"family":"csf lymphocytosis"},{"family":"An increased lymphocyte count in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200149","type":"entry-dictionary","title":"CSF lymphocytic pleiocytosis"},{"container-title":"HP:0200148","author":[{"family":"abnormal liver function tests during pregnancy, resolves postpartum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200148","type":"entry-dictionary","title":"Abnormal liver function tests during pregnancy"},{"container-title":"HP:0200154","author":[{"family":"absence of mandibular lateral incisor"},{"family":"missing mandibular lateral incisor"},{"family":"missing lower lateral incisor"},{"family":"failure of development of mandibular lateral incisor"},{"family":"absence of lower lateral incisor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200154","type":"entry-dictionary","title":"Agenesis of mandibular lateral incisor"},{"container-title":"HP:0003546","author":[{"family":"poor exercise tolerance"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003546","type":"entry-dictionary","title":"Exercise intolerance"},{"container-title":"HP:0200153","author":[{"family":"missing lateral incisor"},{"family":"failure of development of lateral incisor"},{"family":"absence of lateral incisor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200153","type":"entry-dictionary","title":"Agenesis of lateral incisor"},{"container-title":"HP:0003547","author":[{"family":"shoulder weakness"},{"family":"muscle weakness, shoulder-girdle"},{"family":"shoulder girdle weakness"},{"family":"The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003547","type":"entry-dictionary","title":"Shoulder girdle muscle weakness"},{"container-title":"HP:0003548","author":[{"family":"An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003548","type":"entry-dictionary","title":"Subsarcolemmal accumulations of abnormally shaped mitochondria"},{"container-title":"HP:0200159","author":[{"family":"missing deciduous mandibular lateral incisor"},{"family":"absence of primary mandibular lateral incisor"},{"family":"agenesis of deciduous mandibular lateral incisor"},{"family":"absence of deciduous mandibular lateral incisor"},{"family":"failure of development of primary mandibular lateral incisor"},{"family":"missing primary mandibular lateral incisor"},{"family":"absence of lower front baby tooth"},{"family":"failure of development of deciduous mandibular lateral incisor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200159","type":"entry-dictionary","title":"Agenesis of primary mandibular lateral incisor"},{"container-title":"HP:0003549","author":[{"family":"Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003549","type":"entry-dictionary","title":"Abnormality of connective tissue"},{"container-title":"HP:0200158","author":[{"family":"missing permanent mandibular lateral incisor"},{"family":"absence of permanent mandibular lateral incisor"},{"family":"absence of adult mandibular lateral incisor"},{"family":"failure of development of permanent mandibular lateral incisor"},{"family":"missing adult lower lateral incisor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200158","type":"entry-dictionary","title":"Agenesis of permanent mandibular lateral incisor"},{"container-title":"HP:0003550","author":[{"family":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003550","type":"entry-dictionary","title":"Predominantly lower limb lymphedema"},{"container-title":"HP:0003551","author":[{"family":"difficulty walking up stairs"},{"family":"Reduced ability to climb stairs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003551","type":"entry-dictionary","title":"Difficulty climbing stairs"},{"container-title":"HP:0003552","author":[{"family":"A condition in which muscles cannot be moved quickly without accompanying pain or spasm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003552","type":"entry-dictionary","title":"Muscle stiffness"},{"container-title":"HP:0003554","author":[{"family":"type 2 fiber atrophy"},{"family":"Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003554","type":"entry-dictionary","title":"Type 2 muscle fiber atrophy"},{"container-title":"HP:0200161","author":[{"family":"absence of lower front tooth"},{"family":"missing lower front tooth"},{"family":"agenesis of lower incisor"},{"family":"absence of mandibular incisor"},{"family":"missing lower incisor"},{"family":"failure of development of mandibular incisor"},{"family":"absence of lower incisor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200161","type":"entry-dictionary","title":"Agenesis of mandibular incisor"},{"container-title":"HP:0003555","author":[{"family":"fiber splitting"},{"family":"muscle fibre splitting"},{"family":"Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003555","type":"entry-dictionary","title":"Muscle fiber splitting"},{"container-title":"HP:0200160","author":[{"family":"failure of development of maxillary incisor"},{"family":"missing upper incisor"},{"family":"absence of upper front tooth"},{"family":"failure of development of upper incisor"},{"family":"missing upper front tooth"},{"family":"absence of maxillary incisor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0200160","type":"entry-dictionary","title":"Agenesis of maxillary incisor"},{"container-title":"HP:0003557","author":[{"family":"increased variation in muscle fiber size"},{"family":"increased variation in fiber size"},{"family":"increased fiber size variation"},{"family":"increased variability in muscle fiber size"},{"family":"An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003557","type":"entry-dictionary","title":"Increased variability in muscle fiber diameter"},{"container-title":"HP:0003558","author":[{"family":"Rhabdomyolysis induced by a viral infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003558","type":"entry-dictionary","title":"Viral infection-induced rhabdomyolysis"},{"container-title":"HP:0003559","author":[{"family":"Muscle hyperirritability"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003559","type":"entry-dictionary","title":"Muscle hyperirritability"},{"container-title":"HP:0003560","author":[{"family":"muscle biopsy shows dystrophic changes"},{"family":"The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003560","type":"entry-dictionary","title":"Muscular dystrophy"},{"container-title":"HP:0003561","author":[{"family":"birth length < 3rd percentile"},{"family":"birth length <3rd percentile"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003561","type":"entry-dictionary","title":"Birth length less than 3rd percentile"},{"container-title":"HP:0003562","author":[{"family":"Abnormal metaphyseal vascular invasion"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003562","type":"entry-dictionary","title":"Abnormal metaphyseal vascular invasion"},{"container-title":"HP:0003563","author":[{"family":"hypobetalipoproteinemia"},{"family":"decreased ldl"},{"family":"An decreased concentration of low-density lipoprotein cholesterol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003563","type":"entry-dictionary","title":"Decreased circulating low-density lipoprotein levels"},{"container-title":"HP:0003564","author":[{"family":"The presence of a folate sensitive fragile site at chromosome Xq28."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003564","type":"entry-dictionary","title":"Folate-dependent fragile site at Xq28"},{"container-title":"HP:0003565","author":[{"family":"high esr"},{"family":"raised erythrocyte sedimentation rate"},{"family":"elevated sedimentation rate"},{"family":"increased erythrocyte sedimentation rate"},{"family":"high erythrocyte sedimentation rate"},{"family":"An increased erythrocyte sedimentation rate (ESR). The ESR a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003565","type":"entry-dictionary","title":"Elevated erythrocyte sedimentation rate"},{"container-title":"HP:0003566","author":[{"family":"elevated prostaglandin e2"},{"family":"An increased concentration of prostaglandin E2 in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003566","type":"entry-dictionary","title":"Increased serum prostaglandin E2"},{"container-title":"HP:0003568","author":[{"family":"glucosephosphate isomerase deficiency"},{"family":"phosphohexose isomerase deficiency"},{"family":"A decreased rate of glucose-6-phosphate isomerase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003568","type":"entry-dictionary","title":"Decreased glucosephosphate isomerase activity"},{"container-title":"HP:0003570","author":[{"family":"Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003570","type":"entry-dictionary","title":"Molybdenum cofactor deficiency"},{"container-title":"HP:0003571","author":[{"family":"Propionicacidemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003571","type":"entry-dictionary","title":"Propionicacidemia"},{"container-title":"HP:0003572","author":[{"family":"A decreased concentration of citrulline in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003572","type":"entry-dictionary","title":"Low plasma citrulline"},{"container-title":"HP:0003573","author":[{"family":"increased bilirubin"},{"family":"high bili total"},{"family":"Increased concentration of total (conjugated and unconjugated) bilirubin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003573","type":"entry-dictionary","title":"Increased total bilirubin"},{"container-title":"HP:0003574","author":[{"family":"A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003574","type":"entry-dictionary","title":"Positive regitine blocking test"},{"container-title":"HP:0003575","author":[{"family":"An abnormally increased sodium concentration in the cytosol."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003575","type":"entry-dictionary","title":"Increased intracellular sodium"},{"container-title":"HP:0003577","author":[{"family":"intrauterine onset"},{"family":"onset at birth"},{"family":"onset in utero"},{"family":"prenatal onset"},{"family":"A phenotypic abnormality that is present at birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003577","type":"entry-dictionary","title":"Congenital onset"},{"container-title":"HP:0003581","author":[{"family":"onset in early adulthood"},{"family":"onset in adulthood"},{"family":"Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003581","type":"entry-dictionary","title":"Adult onset"},{"container-title":"HP:0003584","author":[{"family":"A type of adult onset with onset of symptoms after the age of 60 years."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003584","type":"entry-dictionary","title":"Late onset"},{"container-title":"HP:0003587","author":[{"family":"gradual onset"},{"family":"Gradual, very slow onset of disease manifestations."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003587","type":"entry-dictionary","title":"Insidious onset"},{"container-title":"HP:0003593","author":[{"family":"infantile onset"},{"family":"onset in first year of life"},{"family":"onset in infancy"},{"family":"Onset of signs or symptoms of disease between 28 days to one year of life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003593","type":"entry-dictionary","title":"Infantile onset"},{"container-title":"HP:0003596","author":[{"family":"A type of adult onset with onset of symptoms at the age of 40 to 60 years."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003596","type":"entry-dictionary","title":"Middle age onset"},{"container-title":"HP:0003606","author":[{"family":"Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003606","type":"entry-dictionary","title":"Absent urinary urothione"},{"container-title":"HP:0003607","author":[{"family":"Increased concentration of 4-hydroxyphenylacetic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003607","type":"entry-dictionary","title":"4-Hydroxyphenylacetic aciduria"},{"container-title":"HP:0003609","author":[{"family":"The presence of foam cells that contain lamellar inclusion bodies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003609","type":"entry-dictionary","title":"Foam cells with lamellar inclusion bodies"},{"container-title":"HP:0003610","author":[{"family":"Increased cytoplasmic staining of fibroblasts with toluidine blue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003610","type":"entry-dictionary","title":"Fibroblast metachromasia"},{"container-title":"HP:0003612","author":[{"family":"If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003612","type":"entry-dictionary","title":"Positive ferric chloride test"},{"container-title":"HP:0003613","author":[{"family":"antiphospholipid antibody"},{"family":"phospholipid antibody positivity"},{"family":"antiphospholipid antibodies"},{"family":"The presence of circulating autoantibodies to phospholipids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003613","type":"entry-dictionary","title":"Antiphospholipid antibody positivity"},{"container-title":"HP:0003614","author":[{"family":"high urine trimethylamine levels"},{"family":"Increased concentration of trimethylamine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003614","type":"entry-dictionary","title":"Trimethylaminuria"},{"container-title":"HP:0003616","author":[{"family":"Premature separation of centromeric heterochromatin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003616","type":"entry-dictionary","title":"Premature separation of centromeric heterochromatin"},{"container-title":"HP:0003621","author":[{"family":"Onset of signs or symptoms of disease between the age of 5 and 15 years."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003621","type":"entry-dictionary","title":"Juvenile onset"},{"container-title":"HP:0003623","author":[{"family":"onset in neonatal period"},{"family":"neonatal onset"},{"family":"onset in first weeks of life"},{"family":"Onset of signs or symptoms of disease within the first 28 days of life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003623","type":"entry-dictionary","title":"Neonatal onset"},{"container-title":"HP:0003634","author":[{"family":"congenital absence of muscles"},{"family":"absent muscles since birth"},{"family":"Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003634","type":"entry-dictionary","title":"Amyoplasia"},{"container-title":"HP:0003635","author":[{"family":"loss of fat tissue below the skin in limbs"},{"family":"loss of subcutaneous adipose tissue from extremities"},{"family":"Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003635","type":"entry-dictionary","title":"Loss of subcutaneous adipose tissue in limbs"},{"container-title":"HP:0003637","author":[{"family":"An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003637","type":"entry-dictionary","title":"Reduced 4-Hydroxyphenylpyruvate dioxygenase activity"},{"container-title":"HP:0003639","author":[{"family":"increased urinary epinephrine"},{"family":"An increased concentration of adrenaline in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003639","type":"entry-dictionary","title":"Elevated urinary epinephrine"},{"container-title":"HP:0003640","author":[{"family":"Foam cells in visceral organs and CNS"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003640","type":"entry-dictionary","title":"Foam cells in visceral organs and CNS"},{"container-title":"HP:0003641","author":[{"family":"hemoglobin in urine"},{"family":"The presence of free hemoglobin in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003641","type":"entry-dictionary","title":"Hemoglobinuria"},{"container-title":"HP:0003642","author":[{"family":"abnormal isoelectric focusing of serum transferrin, type i pattern"},{"family":"type 1 transferrin isoform profile"},{"family":"isoelectric focusing of serum transferrin consistent with cdg type i"},{"family":"Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003642","type":"entry-dictionary","title":"Type I transferrin isoform profile"},{"container-title":"HP:0003643","author":[{"family":"Abnormally reduced sulfite oxidase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003643","type":"entry-dictionary","title":"Sulfite oxidase deficiency"},{"container-title":"HP:0003645","author":[{"family":"abnormal partial thromboplastin time"},{"family":"delayed thromboplastin generation"},{"family":"partial thromboplastin time prolonged"},{"family":"prolonged activated partial thromboplastin time"},{"family":"Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003645","type":"entry-dictionary","title":"Prolonged partial thromboplastin time"},{"container-title":"HP:0003646","author":[{"family":"Abnormally increased concentration of hydrogencarbonate in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003646","type":"entry-dictionary","title":"Bicarbonaturia"},{"container-title":"HP:0003647","author":[{"family":"Electron transfer flavoprotein-ubiquinone oxidoreductase defect"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003647","type":"entry-dictionary","title":"Electron transfer flavoprotein-ubiquinone oxidoreductase defect"},{"container-title":"HP:0003648","author":[{"family":"high urine lactic acid levels"},{"family":"An increased concentration of lactic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003648","type":"entry-dictionary","title":"Lacticaciduria"},{"container-title":"HP:0003649","author":[{"family":"Abnormality of glycoside metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003649","type":"entry-dictionary","title":"Abnormality of glycoside metabolism"},{"container-title":"HP:0003651","author":[{"family":"lipid-laden histiocytes"},{"family":"foamy macrophages"},{"family":"foamy histiocytes"},{"family":"presence of foam cells"},{"family":"The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003651","type":"entry-dictionary","title":"Foam cells"},{"container-title":"HP:0003652","author":[{"family":"myoglobinuria, recurrent"},{"family":"myoglobinuria, episodic"},{"family":"Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003652","type":"entry-dictionary","title":"Recurrent myoglobinuria"},{"container-title":"HP:0003653","author":[{"family":"Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003653","type":"entry-dictionary","title":"Cellular metachromasia"},{"container-title":"HP:0003654","author":[{"family":"dihydropyrimidine dehydrogenase deficiency"},{"family":"An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003654","type":"entry-dictionary","title":"Reduced dihydropyrimidine dehydrogenase activity"},{"container-title":"HP:0003655","author":[{"family":"deficient n-acetylglucosaminyltransferase ii"},{"family":"An abnormality of glycoprotein metabolism related to a decreased rate of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003655","type":"entry-dictionary","title":"Reduced activity of N-acetylglucosaminyltransferase II"},{"container-title":"HP:0003656","author":[{"family":"Decreased beta-glucocerebrosidase protein and activity"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003656","type":"entry-dictionary","title":"Decreased beta-glucocerebrosidase protein and activity"},{"container-title":"HP:0003657","author":[{"family":"Granular osmiophilic deposits (GROD) in cells"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003657","type":"entry-dictionary","title":"Granular osmiophilic deposits (GROD) in cells"},{"container-title":"HP:0003658","author":[{"family":"decreased plasma methionine"},{"family":"decreased serum methionine"},{"family":"A decreased concentration of methionine in the 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progression"},{"container-title":"HP:0003678","author":[{"family":"rapid progression"},{"family":"rapidly progressive disorder"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003678","type":"entry-dictionary","title":"Rapidly progressive"},{"container-title":"HP:0003679","author":[{"family":"Pace of progression"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003679","type":"entry-dictionary","title":"Pace of progression"},{"container-title":"HP:0003680","author":[{"family":"non-progressive"},{"family":"nonprogressive disorder"},{"family":"stationary"},{"family":"nonprogressive course"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003680","type":"entry-dictionary","title":"Nonprogressive"},{"container-title":"HP:0003682","author":[{"family":"Variable progression rate"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003682","type":"entry-dictionary","title":"Variable progression rate"},{"container-title":"HP:0003683","author":[{"family":"large beaked 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tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003688","type":"entry-dictionary","title":"Cytochrome C oxidase-negative muscle fibers"},{"container-title":"HP:0003689","author":[{"family":"multiple mtdna deletions"},{"family":"The presence of multiple deletions of mitochondrial DNA (mtDNA)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003689","type":"entry-dictionary","title":"Multiple mitochondrial DNA deletions"},{"container-title":"HP:0003690","author":[{"family":"limb weakness"},{"family":"limb muscle weakness"},{"family":"Reduced strength and weakness of the muscles of the arms and legs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003690","type":"entry-dictionary","title":"Limb muscle weakness"},{"container-title":"HP:0003691","author":[{"family":"scapula alata"},{"family":"winged shoulder blade"},{"family":"winged scapulas"},{"family":"scapular weakness"},{"family":"winged scapulae"},{"family":"Abnormal protrusion of the scapula away from the surface of the back."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003691","type":"entry-dictionary","title":"Scapular winging"},{"container-title":"HP:0003693","author":[{"family":"muscle atrophy, distal"},{"family":"distal muscle degeneration"},{"family":"distal muscular atrophy"},{"family":"distal limb muscle atrophy"},{"family":"distal muscle wasting"},{"family":"distal muscle atrophy, upper and lower limbs"},{"family":"distal amyotrophy, especially of the hands and feet"},{"family":"amyotrophy of distal limb muscles"},{"family":"Muscular atrophy affecting muscles in the distal portions of the extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003693","type":"entry-dictionary","title":"Distal amyotrophy"},{"container-title":"HP:0003694","author":[{"family":"Lack of strength of the proximal musculature occuring late in the clinical course."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003694","type":"entry-dictionary","title":"Late-onset proximal muscle weakness"},{"container-title":"HP:0003696","author":[{"family":"absent end part of the outermost bone of the little finger"},{"family":"absent end part of the outermost bone of the pinkie finger"},{"family":"absent end part of the outermost bone of the pinky finger"},{"family":"Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003696","type":"entry-dictionary","title":"Absent epiphysis of the distal phalanx of the 5th finger"},{"container-title":"HP:0003697","author":[{"family":"scapuloperoneal atrophy"},{"family":"Muscular atrophy in the distribution of shoulder girdle and peroneal muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003697","type":"entry-dictionary","title":"Scapuloperoneal amyotrophy"},{"container-title":"HP:0003698","author":[{"family":"difficulty in standing"},{"family":"standing 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or more muscles brought on by physical exertion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003710","type":"entry-dictionary","title":"Exercise-induced muscle cramps"},{"container-title":"HP:0003712","author":[{"family":"muscular hypertrophy"},{"family":"hypertrophic muscles"},{"family":"increased skeletal muscle cells"},{"family":"muscle hypertrophy"},{"family":"Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003712","type":"entry-dictionary","title":"Skeletal muscle hypertrophy"},{"container-title":"HP:0003713","author":[{"family":"Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003713","type":"entry-dictionary","title":"Muscle fiber necrosis"},{"container-title":"HP:0003715","author":[{"family":"myofibrillar changes"},{"family":"Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003715","type":"entry-dictionary","title":"Myofibrillar myopathy"},{"container-title":"HP:0003716","author":[{"family":"Generalized muscular appearance from birth"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003716","type":"entry-dictionary","title":"Generalized muscular appearance from birth"},{"container-title":"HP:0003717","author":[{"family":"minimal fat below the skin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003717","type":"entry-dictionary","title":"Minimal subcutaneous fat"},{"container-title":"HP:0003719","author":[{"family":"Muscle mounding"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003719","type":"entry-dictionary","title":"Muscle mounding"},{"container-title":"HP:0003720","author":[{"family":"generalized increase in muscle cell size"},{"family":"Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003720","type":"entry-dictionary","title":"Generalized muscle hypertrophy"},{"container-title":"HP:0003722","author":[{"family":"neck flexor muscle weakness"},{"family":"neck flexion weakness"},{"family":"Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003722","type":"entry-dictionary","title":"Neck flexor weakness"},{"container-title":"HP:0003724","author":[{"family":"shoulder girdle atrophy"},{"family":"shoulder-girdle muscle atrophy"},{"family":"shoulder girdle muscle wasting"},{"family":"Amyotrophy affecting the muscles of the shoulder girdle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003724","type":"entry-dictionary","title":"Shoulder girdle muscle atrophy"},{"container-title":"HP:0003725","author":[{"family":"Firm muscles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003725","type":"entry-dictionary","title":"Firm muscles"},{"container-title":"HP:0003729","author":[{"family":"Enteroviral dermatomyositis syndrome"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003729","type":"entry-dictionary","title":"Enteroviral dermatomyositis syndrome"},{"container-title":"HP:0003730","author":[{"family":"emg: spontaneous, repetitive electrical activity"},{"family":"Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003730","type":"entry-dictionary","title":"EMG: myotonic runs"},{"container-title":"HP:0003731","author":[{"family":"quadriceps weakness"},{"family":"Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003731","type":"entry-dictionary","title":"Quadriceps muscle weakness"},{"container-title":"HP:0003733","author":[{"family":"increased thigh size"},{"family":"Muscle hypertrophy affecting the thighs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003733","type":"entry-dictionary","title":"Thigh hypertrophy"},{"container-title":"HP:0003736","author":[{"family":"The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003736","type":"entry-dictionary","title":"Autophagic vacuoles"},{"container-title":"HP:0003737","author":[{"family":"A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003737","type":"entry-dictionary","title":"Mitochondrial myopathy"},{"container-title":"HP:0003738","author":[{"family":"muscle pain with exercise"},{"family":"muscle pain on exercise"},{"family":"exercise-induced muscle pain"},{"family":"muscle pain, exercise-induced"},{"family":"The occurrence of an unusually high amount of muscle pain following exercise."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003738","type":"entry-dictionary","title":"Exercise-induced myalgia"},{"container-title":"HP:0003739","author":[{"family":"Myoclonic spasms"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003739","type":"entry-dictionary","title":"Myoclonic spasms"},{"container-title":"HP:0003740","author":[{"family":"Myotonia that occurs after a period of rest and decreases with continuing exercise."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003740","type":"entry-dictionary","title":"Myotonia with warm-up phenomenon"},{"container-title":"HP:0003741","author":[{"family":"muscular dystrophy, congenital"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003741","type":"entry-dictionary","title":"Congenital muscular dystrophy"},{"container-title":"HP:0003743","author":[{"family":"A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003743","type":"entry-dictionary","title":"Genetic anticipation"},{"container-title":"HP:0003744","author":[{"family":"paternal anticipation bias"},{"family":"A type of genetic anticipation observed predominantly upon transmission from affected males."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003744","type":"entry-dictionary","title":"Genetic anticipation with paternal anticipation bias"},{"container-title":"HP:0003745","author":[{"family":"isolated cases"},{"family":"Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003745","type":"entry-dictionary","title":"Sporadic"},{"container-title":"HP:0003749","author":[{"family":"pelvic girdle weakness"},{"family":"hip-girdle muscle weakness"},{"family":"hip girdle muscle weakness"},{"family":"hip girdle weakness"},{"family":"Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003749","type":"entry-dictionary","title":"Pelvic girdle muscle weakness"},{"container-title":"HP:0003750","author":[{"family":"muscle fatigue"},{"family":"An abnormal, increased fatiguability of the musculature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003750","type":"entry-dictionary","title":"Increased muscle fatiguability"},{"container-title":"HP:0003752","author":[{"family":"Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003752","type":"entry-dictionary","title":"Episodic flaccid weakness"},{"container-title":"HP:0003755","author":[{"family":"The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003755","type":"entry-dictionary","title":"Type 1 fibers relatively smaller than type 2 fibers"},{"container-title":"HP:0003756","author":[{"family":"Skeletal myopathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003756","type":"entry-dictionary","title":"Skeletal myopathy"},{"container-title":"HP:0003758","author":[{"family":"reduced subcutaneous fat"},{"family":"scanty adipose tissue"},{"family":"decreased subcutaneous fat"},{"family":"decreased subcutaneous adipose tissue"},{"family":"reduced fat tissue below the skin"},{"family":"A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003758","type":"entry-dictionary","title":"Reduced subcutaneous adipose tissue"},{"container-title":"HP:0003759","author":[{"family":"underdeveloped lymphatic vessels"},{"family":"Congenital underdevelopment of lymph vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003759","type":"entry-dictionary","title":"Hypoplasia of lymphatic vessels"},{"container-title":"HP:0003760","author":[{"family":"Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003760","type":"entry-dictionary","title":"Percussion-induced rapid rolling muscle contractions"},{"container-title":"HP:0003761","author":[{"family":"Formation of calcium deposits in any soft tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003761","type":"entry-dictionary","title":"Calcinosis"},{"container-title":"HP:0003762","author":[{"family":"double uterus"},{"family":"A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003762","type":"entry-dictionary","title":"Uterus didelphys"},{"container-title":"HP:0003763","author":[{"family":"teeth grinding"},{"family":"Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003763","type":"entry-dictionary","title":"Bruxism"},{"container-title":"HP:0003764","author":[{"family":"mole"},{"family":"naevus"},{"family":"nevi"},{"family":"naevi"},{"family":"A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003764","type":"entry-dictionary","title":"Nevus"},{"container-title":"HP:0003765","author":[{"family":"psoriasis"},{"family":"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003765","type":"entry-dictionary","title":"Psoriasiform dermatitis"},{"container-title":"HP:0003768","author":[{"family":"episodic paralysis"},{"family":"Episodes of muscle weakness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003768","type":"entry-dictionary","title":"Periodic paralysis"},{"container-title":"HP:0003771","author":[{"family":"false pulp stones"},{"family":"pulp denticles"},{"family":"false denticles"},{"family":"true pulp stones"},{"family":"true denticles"},{"family":"pulp calcifications"},{"family":"Multiple punctate calcifications in the dental pulp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003771","type":"entry-dictionary","title":"Pulp stones"},{"container-title":"HP:0003774","author":[{"family":"end stage renal disease"},{"family":"end-stage renal failure"},{"family":"chronic renal failure"},{"family":"renal failure, endstage"},{"family":"end-stage renal disease"},{"family":"stage 5 chronic kidney disease"},{"family":"end stage renal failure"},{"family":"A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml\/min\/1.73 m2) and other manifestations including increased serum creatinine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003774","type":"entry-dictionary","title":"Stage 5 chronic kidney disease"},{"container-title":"HP:0003777","author":[{"family":"flattened and twisted hair"},{"family":"Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003777","type":"entry-dictionary","title":"Pili torti"},{"container-title":"HP:0003778","author":[{"family":"decreased height of mandibular ramus"},{"family":"short body and ramus of mandible"},{"family":"decreased size of mandibular ramus"},{"family":"short mandibular ramus"},{"family":"underdeveloped mandibular rami"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003778","type":"entry-dictionary","title":"Short mandibular rami"},{"container-title":"HP:0003779","author":[{"family":"deep antegonial notch of mandible"},{"family":"large antegonial notch of mandible"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003779","type":"entry-dictionary","title":"Antegonial notching of mandible"},{"container-title":"HP:0003781","author":[{"family":"watery mouth"},{"family":"oversalivation"},{"family":"mouth watering"},{"family":"ptyalism"},{"family":"excessive production of saliva"},{"family":"hypersalivation"},{"family":"excessive salivation"},{"family":"Excessive production of saliva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003781","type":"entry-dictionary","title":"Excessive salivation"},{"container-title":"HP:0003782","author":[{"family":"A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003782","type":"entry-dictionary","title":"Eunuchoid habitus"},{"container-title":"HP:0003783","author":[{"family":"Externally rotated\/abducted legs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003783","type":"entry-dictionary","title":"Externally rotated\/abducted legs"},{"container-title":"HP:0003784","author":[{"family":"Type 1 collagen overmodification"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003784","type":"entry-dictionary","title":"Type 1 collagen overmodification"},{"container-title":"HP:0003785","author":[{"family":"Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003785","type":"entry-dictionary","title":"Decreased CSF homovanillic acid"},{"container-title":"HP:0003787","author":[{"family":"Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003787","type":"entry-dictionary","title":"Type 1 and type 2 muscle fiber minicore regions"},{"container-title":"HP:0003789","author":[{"family":"Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003789","type":"entry-dictionary","title":"Minicore myopathy"},{"container-title":"HP:0003791","author":[{"family":"Deposits immunoreactive to beta-amyloid protein"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003791","type":"entry-dictionary","title":"Deposits immunoreactive to beta-amyloid protein"},{"container-title":"HP:0003795","author":[{"family":"short middle bones (feet)"},{"family":"short middle phalanges of toes"},{"family":"Developmental hypoplasia (shortening) of middle phalanx of toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003795","type":"entry-dictionary","title":"Short middle phalanx of toe"},{"container-title":"HP:0003796","author":[{"family":"Irregularity of the iliac crest, which is the superior border of the wing of the ilium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003796","type":"entry-dictionary","title":"Irregular iliac crest"},{"container-title":"HP:0003797","author":[{"family":"wasting of limb-girdle muscle"},{"family":"limb-girdle myopathy"},{"family":"Muscular atrophy affecting the muscles of the limb girdle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003797","type":"entry-dictionary","title":"Limb-girdle muscle atrophy"},{"container-title":"HP:0003798","author":[{"family":"nemaline rods"},{"family":"Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003798","type":"entry-dictionary","title":"Nemaline bodies"},{"container-title":"HP:0003799","author":[{"family":"marked delay in bone age"},{"family":"marked retardation in skeletal maturation"},{"family":"markedly retarded bone age"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003799","type":"entry-dictionary","title":"Marked delay in bone age"},{"container-title":"HP:0003800","author":[{"family":"Muscle abnormality related to mitochondrial dysfunction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003800","type":"entry-dictionary","title":"Muscle abnormality related to mitochondrial dysfunction"},{"container-title":"HP:0003803","author":[{"family":"type i muscle fiber predominance"},{"family":"An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003803","type":"entry-dictionary","title":"Type 1 muscle fiber predominance"},{"container-title":"HP:0003805","author":[{"family":"'rimmed' vacuoles on biopsy"},{"family":"'rimmed vacuoles' on biopsy"},{"family":"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. 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Note that a subluxation is a partial dislocation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003834","type":"entry-dictionary","title":"Shoulder dislocation"},{"container-title":"HP:0003835","author":[{"family":"partial shoulder dislocation"},{"family":"A partial dislocation of the shoulder joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003835","type":"entry-dictionary","title":"Shoulder subluxation"},{"container-title":"HP:0003836","author":[{"family":"Stippled calcification of the shoulder"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003836","type":"entry-dictionary","title":"Stippled calcification of the shoulder"},{"container-title":"HP:0003837","author":[{"family":"calcification of the soft-tissue around the shoulders"},{"family":"Formation of calcified tissue in the soft tissues surrounding the shoulder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003837","type":"entry-dictionary","title":"Soft-tissue ossification around the 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An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003872","type":"entry-dictionary","title":"Humeral exostoses"},{"container-title":"HP:0003874","author":[{"family":"Humerus varus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003874","type":"entry-dictionary","title":"Humerus varus"},{"container-title":"HP:0003875","author":[{"family":"lytic defects of the humerus"},{"family":"Destruction of an area of humerus bone due to a disease process, such as cancer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003875","type":"entry-dictionary","title":"Humeral lytic defects"},{"container-title":"HP:0003876","author":[{"family":"Osteoporotic humerus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003876","type":"entry-dictionary","title":"Osteoporotic humerus"},{"container-title":"HP:0003877","author":[{"family":"humeral oval 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humerus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003886","type":"entry-dictionary","title":"Wide humerus"},{"container-title":"HP:0003887","author":[{"family":"abnormal head of long bone in upper arm"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003887","type":"entry-dictionary","title":"Abnormality of the humeral heads"},{"container-title":"HP:0003888","author":[{"family":"flattended head of long bone in upper arm"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003888","type":"entry-dictionary","title":"Flattened humeral heads"},{"container-title":"HP:0003889","author":[{"family":"Abnormality of the deltoid tuberosities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003889","type":"entry-dictionary","title":"Abnormality of the deltoid tuberosities"},{"container-title":"HP:0003890","author":[{"family":"Prominent deltoid tuberosities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003890","type":"entry-dictionary","title":"Prominent deltoid 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handle fracture"},{"family":"metaphyseal corner fracture"},{"family":"Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003908","type":"entry-dictionary","title":"Corner fracture of metaphysis"},{"container-title":"HP:0003909","author":[{"family":"Cortical subperiosteal resorption of humeral metaphyses"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003909","type":"entry-dictionary","title":"Cortical subperiosteal resorption of humeral metaphyses"},{"container-title":"HP:0003910","author":[{"family":"enlarged wide portion of long bone of upper arm"},{"family":"expanded humeral metaphyses"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0003910","type":"entry-dictionary","title":"Enlarged humeral metaphyses"},{"container-title":"HP:0003911","author":[{"family":"flared wide portion of long bone of upper arm"},{"family":"flared humerus"},{"family":"wide\/broad humeral 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diaphysis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004028","type":"entry-dictionary","title":"Spurs of radial diaphysis"},{"container-title":"HP:0430010","author":[{"family":"abnormally small eyelid"},{"family":"Abnormal shortness of the vertical dimensions of the eyelids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430010","type":"entry-dictionary","title":"Microblepharia"},{"container-title":"HP:0004029","author":[{"family":"Lytic defects of radial diaphysis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004029","type":"entry-dictionary","title":"Lytic defects of radial diaphysis"},{"container-title":"HP:0430011","author":[{"family":"An abnormality of the palpebral conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430011","type":"entry-dictionary","title":"Defect of palpebral conjunctiva"},{"container-title":"HP:0004030","author":[{"family":"Patchy sclerosis of radial diaphysis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004030","type":"entry-dictionary","title":"Patchy sclerosis of radial diaphysis"},{"container-title":"HP:0430008","author":[{"family":"extra eyelid"},{"family":"double eyelid"},{"family":"The presence of more than the normal number of eyelids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430008","type":"entry-dictionary","title":"Accessory eyelid"},{"container-title":"HP:0004031","author":[{"family":"wide radial diaphysis"},{"family":"Increase in width of the diaphysis of radius."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004031","type":"entry-dictionary","title":"Broad radial diaphysis"},{"container-title":"HP:0430009","author":[{"family":"short eyelid"},{"family":"decreased size of eyelid"},{"family":"small eyelid"},{"family":"underdevelopment of eyelid"},{"family":"Developmental hypoplasia of the eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430009","type":"entry-dictionary","title":"Hypoplasia of eyelid"},{"container-title":"HP:0004032","author":[{"family":"Abnormality of the olecranon"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004032","type":"entry-dictionary","title":"Abnormality of the olecranon"},{"container-title":"HP:0430022","author":[{"family":"abnormality of the sphenoidal sinus"},{"family":"An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430022","type":"entry-dictionary","title":"Abnormality of the sphenoid sinus"},{"container-title":"HP:0004033","author":[{"family":"Curved olecranon"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004033","type":"entry-dictionary","title":"Curved olecranon"},{"container-title":"HP:0430023","author":[{"family":"abnormality of the upper jaw sinus"},{"family":"abnormality of the antrum of highmore"},{"family":"abnormality of the maxillary antrum"},{"family":"An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430023","type":"entry-dictionary","title":"Abnormality of the maxillary sinus"},{"container-title":"HP:0004034","author":[{"family":"Irregular olecranon"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004034","type":"entry-dictionary","title":"Irregular olecranon"},{"container-title":"HP:0430020","author":[{"family":"An abnormality of the levator labii superioris alaeque nasi muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430020","type":"entry-dictionary","title":"Abnormality of levator labii superioris alaeque nasi muscle"},{"container-title":"HP:0004035","author":[{"family":"Abnormality of the styloid process of ulna"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004035","type":"entry-dictionary","title":"Abnormality of the styloid process of ulna"},{"container-title":"HP:0430021","author":[{"family":"abnormality of the common carotid artery"},{"family":"An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430021","type":"entry-dictionary","title":"Abnormal common carotid artery morphology"},{"container-title":"HP:0004036","author":[{"family":"Long styloid process of ulna"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004036","type":"entry-dictionary","title":"Long styloid process of ulna"},{"container-title":"HP:0430018","author":[{"family":"abnormality of musculature of the nose"},{"family":"abnormality of muscle of nose"},{"family":"abnormality of nasal musculature"},{"family":"An abnormality of the muscles of the structure of the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430018","type":"entry-dictionary","title":"Abnormality of nasal musculature"},{"container-title":"HP:0004037","author":[{"family":"abnormality of the epiphyseal plate of the ulna"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004037","type":"entry-dictionary","title":"Abnormality of the ulnar epiphyses"},{"container-title":"HP:0430019","author":[{"family":"abnormality of muscle of facial expression"},{"family":"abnormality of musculature of facial expression"},{"family":"An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430019","type":"entry-dictionary","title":"Abnormality of muscle of facial expression"},{"container-title":"HP:0004038","author":[{"family":"Bony spikule of ulnar epiphyseal plate"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004038","type":"entry-dictionary","title":"Bony spikule of ulnar epiphyseal plate"},{"container-title":"HP:0430016","author":[{"family":"An abnormality of the tensor veli palatini 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excess"},{"family":"prominent maxilla"},{"family":"maxillary hyperplasia"},{"family":"prognathia of the upper jaw"},{"family":"increased projection of upper jaw"},{"family":"hypertrophy of upper jaw"},{"family":"Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430028","type":"entry-dictionary","title":"Hyperplasia of the maxilla"},{"container-title":"HP:0004043","author":[{"family":"Lytic defects of ulnar metaphysis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004043","type":"entry-dictionary","title":"Lytic defects of ulnar metaphysis"},{"container-title":"HP:0430029","author":[{"family":"increased size of the primary palate bone"},{"family":"increased size of premaxilla"},{"family":"hyperplasia of the primary palate bone"},{"family":"large primary palate bone"},{"family":"premaxillary excess"},{"family":"hyperplasia of the intermaxillary bone"},{"family":"primary palate bone excess"},{"family":"large premaxilla"},{"family":"An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430029","type":"entry-dictionary","title":"Hyperplasia of the premaxilla"},{"container-title":"HP:0004044","author":[{"family":"Pointed ulnar metaphysis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004044","type":"entry-dictionary","title":"Pointed ulnar metaphysis"},{"container-title":"HP:0430026","author":[{"family":"abnormality of the shape of the midface"},{"family":"dysmorphic midface"},{"family":"abnormal morphology of the midface"},{"family":"An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430026","type":"entry-dictionary","title":"Abnormality of the shape of the midface"},{"container-title":"HP:0004045","author":[{"family":"A sloped configuration of the metaphysis (shaft) of the ulna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004045","type":"entry-dictionary","title":"Sloping ulnar metaphysis"},{"container-title":"HP:0004046","author":[{"family":"Spurred ulnar metaphysis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004046","type":"entry-dictionary","title":"Spurred ulnar metaphysis"},{"container-title":"HP:0430024","author":[{"family":"An abnormality of an external jugular vein of the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430024","type":"entry-dictionary","title":"Abnormality of external jugular vein"},{"container-title":"HP:0004047","author":[{"family":"broad ulnar metaphysis"},{"family":"Increase in width (breadth) of the ulnar metaphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004047","type":"entry-dictionary","title":"Wide ulnar metaphysis"},{"container-title":"HP:0430025","author":[{"family":"weakness of both sides of the face"},{"family":"bilateral facial muscle weakness"},{"family":"paralysis of both sides of the face"},{"family":"bilateral facial muscle paralysis"},{"family":"bilateral facial paralysis"},{"family":"Two-sided or bilateral weakness of the muscles of facial expression and eye closure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0430025","type":"entry-dictionary","title":"Bilateral facial palsy"},{"container-title":"HP:0004048","author":[{"family":"Narrow joint spaces of wrist"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004048","type":"entry-dictionary","title":"Narrow joint spaces of wrist"},{"container-title":"HP:0004049","author":[{"family":"Decreased carpal angles of wrist"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004049","type":"entry-dictionary","title":"Decreased carpal angles of wrist"},{"container-title":"HP:0004050","author":[{"family":"acheiria"},{"family":"absent hand"},{"family":"The total absence of the hand, with no bony elements distal to the radius or ulna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004050","type":"entry-dictionary","title":"Absent hand"},{"container-title":"HP:0004051","author":[{"family":"accelerated maturation of hand bones"},{"family":"advanced maturation of the hand bones"},{"family":"Ossification of hand bones at an earlier age than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004051","type":"entry-dictionary","title":"Advanced ossification of the hand bones"},{"container-title":"HP:0004052","author":[{"family":"delayed maturation of the hand bones"},{"family":"delay maturation\/delayed ossification of the hand"},{"family":"Ossification of hand bones is less advanced than would be expected according to age-adjusted norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004052","type":"entry-dictionary","title":"Delayed ossification of the hand bones"},{"container-title":"HP:0004053","author":[{"family":"disharmonic maturation of the hand bones"},{"family":"dysharmonic ossification of the hand bones"},{"family":"Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004053","type":"entry-dictionary","title":"Dysharmonic maturation of the hand bones"},{"container-title":"HP:0004054","author":[{"family":"hand bone sclerosis"},{"family":"generalized sclerosis of hand bones"},{"family":"increased bone density in hand bone"},{"family":"Osteosclerosis affecting one or more bones of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004054","type":"entry-dictionary","title":"Sclerosis of hand bone"},{"container-title":"HP:0004057","author":[{"family":"pseudosyndactyly"},{"family":"Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \"mitten\" hand deformity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004057","type":"entry-dictionary","title":"Mitten deformity"},{"container-title":"HP:0004058","author":[{"family":"Hand monodactyly"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004058","type":"entry-dictionary","title":"Hand monodactyly"},{"container-title":"HP:0004059","author":[{"family":"radial dysplasia"},{"family":"Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004059","type":"entry-dictionary","title":"Radial club hand"},{"container-title":"HP:0004060","author":[{"family":"trident abnormality"},{"family":"trident deformity"},{"family":"A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004060","type":"entry-dictionary","title":"Trident hand"},{"container-title":"HP:0004095","author":[{"family":"curved fingers"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004095","type":"entry-dictionary","title":"Curved fingers"},{"container-title":"HP:0004097","author":[{"family":"deviated fingers"},{"family":"Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004097","type":"entry-dictionary","title":"Deviation of finger"},{"container-title":"HP:0004099","author":[{"family":"megalodactyly"},{"family":"finger overgrowth"},{"family":"Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age\/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004099","type":"entry-dictionary","title":"Macrodactyly"},{"container-title":"HP:0004100","author":[{"family":"abnormality of index finger"},{"family":"An anomaly of the second finger, also known as the index finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004100","type":"entry-dictionary","title":"Abnormality of the 2nd finger"},{"container-title":"HP:0004112","author":[{"family":"central nasal groove"},{"family":"midline nasal groove"},{"family":"An abnormal groove on the midline of the nose that may extend to the nasal tip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004112","type":"entry-dictionary","title":"Midline nasal groove"},{"container-title":"HP:0004122","author":[{"family":"central nasal defect"},{"family":"midline nasal defect"},{"family":"central cleft of nose"},{"family":"midline cleft of nose"},{"family":"midline defect of the nose"},{"family":"central defect of nose"},{"family":"This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004122","type":"entry-dictionary","title":"Midline defect of the nose"},{"container-title":"HP:0004132","author":[{"family":"dimple on nasal tip"},{"family":"dimpled tip of nose"},{"family":"An abnormal indentation of the skin in the region of the nasal tip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004132","type":"entry-dictionary","title":"Dimple on nasal tip"},{"container-title":"HP:0004150","author":[{"family":"abnormality of the middle finger"},{"family":"An anomaly of the third finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004150","type":"entry-dictionary","title":"Abnormality of the 3rd finger"},{"container-title":"HP:0004172","author":[{"family":"abnormal middle finger bone of the middle finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004172","type":"entry-dictionary","title":"Abnormality of the middle phalanx of the 3rd finger"},{"container-title":"HP:0004180","author":[{"family":"short distal phalanx of the third finger"},{"family":"hypoplastic\/small distal phalanx of the 3rd finger"},{"family":"short terminal phalanx of middle finger"},{"family":"short outermost bone of the middle finger"},{"family":"Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004180","type":"entry-dictionary","title":"Short distal phalanx of the 3rd finger"},{"container-title":"HP:0004188","author":[{"family":"abnormality of the ring finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004188","type":"entry-dictionary","title":"Abnormality of the 4th finger"},{"container-title":"HP:0004195","author":[{"family":"lytic defects of the phalanges of the ring finger"},{"family":"Osteolytic defects of the phalanges of the 4th (ring) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004195","type":"entry-dictionary","title":"Osteolytic defects of the phalanges of the 4th finger"},{"container-title":"HP:0004197","author":[{"family":"symphalangism of the ring finger"},{"family":"fused ring finger bones"},{"family":"Fusion of two or more bones of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004197","type":"entry-dictionary","title":"Symphalangism of the 4th finger"},{"container-title":"HP:0004207","author":[{"family":"abnormality of the pinkie finger"},{"family":"abnormality of the little finger"},{"family":"abnormality of the pinky finger"},{"family":"An abnormality affecting one or both 5th fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004207","type":"entry-dictionary","title":"Abnormality of the 5th finger"},{"container-title":"HP:0004209","author":[{"family":"clinodactyly of the little finger"},{"family":"curvature of pinky finger"},{"family":"curvature of pinkie finger"},{"family":"curvature of little finger"},{"family":"clinodactyly of fifth digit"},{"family":"bilateral fifth digit clinodactyly"},{"family":"bilateral fifth finger clinodactyly"},{"family":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004209","type":"entry-dictionary","title":"Clinodactyly of the 5th finger"},{"container-title":"HP:0004213","author":[{"family":"abnormality of the little finger bone"},{"family":"abnormality of the pinkie finger bone"},{"family":"abnormality of the pinky finger bone"},{"family":"Abnormality of the phalanges of the 5th (little) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004213","type":"entry-dictionary","title":"Abnormality of the phalanges of the 5th finger"},{"container-title":"HP:0004214","author":[{"family":"curved little finger bone"},{"family":"curved pinkie finger bone"},{"family":"curved pinky finger bone"},{"family":"Curved phalanges of the 5th (little) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004214","type":"entry-dictionary","title":"Curved phalanges of the 5th finger"},{"container-title":"HP:0004216","author":[{"family":"lytic defects of the phalanges of the little finger"},{"family":"Dissolution or degeneration of bone tissue of the phalanges of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004216","type":"entry-dictionary","title":"Osteolytic defects of the phalanges of the 5th finger"},{"container-title":"HP:0004218","author":[{"family":"fused pinkie finger bones"},{"family":"fused little finger bones"},{"family":"symphalagism of the little finger"},{"family":"fused pinky finger bones"},{"family":"Fusion of two or more bones of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004218","type":"entry-dictionary","title":"Symphalangism of the 5th finger"},{"container-title":"HP:0004219","author":[{"family":"abnormality of the middle bone of pinky finger"},{"family":"abnormality of the middle bone of pinkie finger"},{"family":"abnormality of the middle bone of little finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004219","type":"entry-dictionary","title":"Abnormality of the middle phalanx of the 5th finger"},{"container-title":"HP:0004220","author":[{"family":"hypoplastic\/small middle phalanx of the little finger"},{"family":"short middle bone of the pinky finger"},{"family":"short middle bone of the little finger"},{"family":"hypoplastic middle phalanx of the 5th finger"},{"family":"short middle bone of the pinkie finger"},{"family":"brachymesophalangism v"},{"family":"hypoplastic\/small middle phalanx of the 5th finger"},{"family":"short middle phalanx of the little finger"},{"family":"5th finger middle phalangeal hypoplasia"},{"family":"fifth finger mid-phalanx hypoplasia"},{"family":"hypoplastic fifth finger middle phalanx"},{"family":"type a3 brachydactyly"},{"family":"Absence or underdevelopment (hypoplasia) of the middle phalanx of the fifth finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004220","type":"entry-dictionary","title":"Short middle phalanx of the 5th finger"},{"container-title":"HP:0004222","author":[{"family":"cone-shaped end part of the outermost pinkie finger bone"},{"family":"cone-shaped end part of the outermost little finger bone"},{"family":"cone-shaped epiphysis of the distal phalanx of the little finger"},{"family":"cone-shaped end part of the outermost pinky finger bone"},{"family":"A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004222","type":"entry-dictionary","title":"Cone-shaped epiphysis of the distal phalanx of the 5th finger"},{"container-title":"HP:0004223","author":[{"family":"increased bone density of end part of the outermost pinkie finger bone"},{"family":"ivory epiphysis of the distal phalanx of the little finger"},{"family":"increased bone density of end part of the outermost little finger bone"},{"family":"increased bone density of end part of the outermost pinky finger bone"},{"family":"ivory epiphysis of the terminal phalanx of the little finger"},{"family":"Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004223","type":"entry-dictionary","title":"Ivory epiphysis of the distal phalanx of the 5th finger"},{"container-title":"HP:0004224","author":[{"family":"abnormality of the end part of middle little finger bone"},{"family":"abnormality of the end part of middle pinkie finger bone"},{"family":"abnormality of the end part of middle pinky finger bone"},{"family":"Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004224","type":"entry-dictionary","title":"Abnormality of the epiphysis of the middle phalanx of the 5th finger"},{"container-title":"HP:0004225","author":[{"family":"abnormality of the outermost pinky finger bone"},{"family":"abnormality of the terminal phalanx of the little finger"},{"family":"abnormality of the outermost pinkie finger bone"},{"family":"abnormality of the distal phalanx of the little finger"},{"family":"abnormality of the outermost little finger bone"},{"family":"Abnormality of the distal phalanx of the 5th (little) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004225","type":"entry-dictionary","title":"Abnormality of the distal phalanx of the 5th finger"},{"container-title":"HP:0004226","author":[{"family":"curved terminal phalanx of the little finger"},{"family":"curved outermost little finger bone"},{"family":"curved outermost pinky finger bone"},{"family":"curved outermost pinkie finger bone"},{"family":"Curved appearance of the distal phalanx of the 5th (little) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004226","type":"entry-dictionary","title":"Curved distal phalanx of the 5th finger"},{"container-title":"HP:0004227","author":[{"family":"hypoplastic\/small terminal phalanx of the little finger"},{"family":"short distal phalanx of the fifth finger"},{"family":"short outermost pinkie finger bone"},{"family":"short outermost little finger bone"},{"family":"brachytelophalangism v"},{"family":"short outermost pinky finger bone"},{"family":"fifth digit distal phalangeal hypoplasia"},{"family":"Hypoplastic\/small distal phalanx of the fifth finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004227","type":"entry-dictionary","title":"Short distal phalanx of the 5th finger"},{"container-title":"HP:0004230","author":[{"family":"partially dislocated innermost hinge joint of pinkie finger"},{"family":"partially dislocated innermost hinge joint of little finger"},{"family":"partially dislocated innermost hinge joint of pinky finger"},{"family":"A partial dislocation of the proximal interphalangeal joint of the little finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004230","type":"entry-dictionary","title":"Subluxation of the proximal interphalangeal joint of the little finger"},{"container-title":"HP:0004231","author":[{"family":"missing wrist bone"},{"family":"absent wrist bone"},{"family":"absent carpal ossification center"},{"family":"aplastic carpal bone"},{"family":"absent carpal bones"},{"family":"Congenital absence of a carpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004231","type":"entry-dictionary","title":"Carpal bone aplasia"},{"container-title":"HP:0004232","author":[{"family":"supernumerary carpal bones"},{"family":"extra wrist bones"},{"family":"The presence of more than the normal number of carpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004232","type":"entry-dictionary","title":"Accessory carpal bones"},{"container-title":"HP:0004233","author":[{"family":"accelerated wrist bone maturation"},{"family":"advanced carpal ossification"},{"family":"precociously ossified carpal bones"},{"family":"accelerated carpal bone maturation"},{"family":"advanced carpal bone age"},{"family":"Ossification of carpal bones at an abnormally early age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004233","type":"entry-dictionary","title":"Advanced ossification of carpal bones"},{"container-title":"HP:0004234","author":[{"family":"bone-in-a-bone appearance of wrist bones"},{"family":"The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004234","type":"entry-dictionary","title":"Bone-in-a-bone appearance of carpal bones"},{"container-title":"HP:0004235","author":[{"family":"comma-shaped wrist bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004235","type":"entry-dictionary","title":"Comma-shaped carpal bones"},{"container-title":"HP:0004236","author":[{"family":"irregular wrist bones"},{"family":"Carpal bones with irregular or fragmented margins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004236","type":"entry-dictionary","title":"Irregular carpal bones"},{"container-title":"HP:0004237","author":[{"family":"large wrist bones"},{"family":"large carpals"},{"family":"Increased size of carpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004237","type":"entry-dictionary","title":"Large carpal bones"},{"container-title":"HP:0004238","author":[{"family":"Lytic defects of carpal 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scaphoid"},{"container-title":"HP:0004247","author":[{"family":"Underdevelopment of the scaphoid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004247","type":"entry-dictionary","title":"Small scaphoid"},{"container-title":"HP:0004248","author":[{"family":"Abnormality of the lunate bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004248","type":"entry-dictionary","title":"Abnormality of the lunate bone"},{"container-title":"HP:0004249","author":[{"family":"Accessory lunate"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004249","type":"entry-dictionary","title":"Accessory lunate"},{"container-title":"HP:0004250","author":[{"family":"Proximally placed lunate"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004250","type":"entry-dictionary","title":"Proximally placed lunate"},{"container-title":"HP:0004251","author":[{"family":"lunotriquetral synostosis"},{"family":"Osseous fusion of the lunate and triquetrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004251","type":"entry-dictionary","title":"Lunate-triquetral fusion"},{"container-title":"HP:0004252","author":[{"family":"An anomaly of trapezium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004252","type":"entry-dictionary","title":"Abnormality of the trapezium"},{"container-title":"HP:0004253","author":[{"family":"absent trapezium bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004253","type":"entry-dictionary","title":"Absent trapezium"},{"container-title":"HP:0004254","author":[{"family":"delayed maturation of the trapezium"},{"family":"Formation of bone tissue of trapezium is less than expected for age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004254","type":"entry-dictionary","title":"Delayed ossification of the trapezium"},{"container-title":"HP:0004255","author":[{"family":"Underdevelopment of the trapezium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004255","type":"entry-dictionary","title":"Small trapezium"},{"container-title":"HP:0004256","author":[{"family":"Abnormality of the trapezoid bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004256","type":"entry-dictionary","title":"Abnormality of the trapezoid bone"},{"container-title":"HP:0004257","author":[{"family":"delayed maturation of the trapezoid bone"},{"family":"Formation of bone tissue of trapezoid is less than expected for age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004257","type":"entry-dictionary","title":"Delayed ossification of the trapezoid bone"},{"container-title":"HP:0004258","author":[{"family":"Underdevelopment of the trapezoid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004258","type":"entry-dictionary","title":"Small trapezoid bone"},{"container-title":"HP:0004259","author":[{"family":"Abnormality of the hamate 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of hand bones"},{"container-title":"HP:0004276","author":[{"family":"Abnormal formation of new bone on the surface of a bone of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004276","type":"entry-dictionary","title":"Exostoses of hand bones"},{"container-title":"HP:0004277","author":[{"family":"fractured hand bones"},{"family":"broken hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004277","type":"entry-dictionary","title":"Fractured hand bones"},{"container-title":"HP:0004278","author":[{"family":"fused hand bones"},{"family":"An abnormal union between bones or parts of bones of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004278","type":"entry-dictionary","title":"Synostosis involving bones of the hand"},{"container-title":"HP:0004279","author":[{"family":"hypoplastic hands"},{"family":"short palms"},{"family":"short hands"},{"family":"Short palm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004279","type":"entry-dictionary","title":"Short palm"},{"container-title":"HP:0004280","author":[{"family":"irregular maturation of hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004280","type":"entry-dictionary","title":"Irregular ossification of hand bones"},{"container-title":"HP:0004281","author":[{"family":"increased bone density in hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004281","type":"entry-dictionary","title":"Irregular sclerosis of hand bones"},{"container-title":"HP:0004283","author":[{"family":"narrow palm"},{"family":"narrow hands"},{"family":"For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004283","type":"entry-dictionary","title":"Narrow palm"},{"container-title":"HP:0004284","author":[{"family":"notched hand 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bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004289","type":"entry-dictionary","title":"Sclerotic foci in hand bones"},{"container-title":"HP:0004290","author":[{"family":"Sclerosis of hand bones with transverse striations"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004290","type":"entry-dictionary","title":"Sclerosis of hand bones with transverse striations"},{"container-title":"HP:0004291","author":[{"family":"Stippled calcification of hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004291","type":"entry-dictionary","title":"Stippled calcification of hand bones"},{"container-title":"HP:0004292","author":[{"family":"Undermodelled hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004292","type":"entry-dictionary","title":"Undermodelled hand bones"},{"container-title":"HP:0004293","author":[{"family":"fusion of second metacarpal-trapezoid"},{"family":"Fusion of the second metacarpal-trapezoid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004293","type":"entry-dictionary","title":"Synostosis of second metacarpal-trapezoid"},{"container-title":"HP:0004294","author":[{"family":"partial knuckle dislocation"},{"family":"subluxation of metacarpophalangeal joints"},{"family":"A partial dislocation affecting some or all of the metacarpophalangeal joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004294","type":"entry-dictionary","title":"Subluxation of metacarpal phalangeal joints"},{"container-title":"HP:0004295","author":[{"family":"abnormality of the mucous membrane layer of stomach"},{"family":"An abnormality of the gastric mucous membrane."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004295","type":"entry-dictionary","title":"Abnormality of the gastric mucosa"},{"container-title":"HP:0004296","author":[{"family":"abnormality of gi blood vessels"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004296","type":"entry-dictionary","title":"Abnormality of gastrointestinal vasculature"},{"container-title":"HP:0004297","author":[{"family":"An abnormality of the biliary system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004297","type":"entry-dictionary","title":"Abnormality of the biliary system"},{"container-title":"HP:0004298","author":[{"family":"abnormality of the abdominal wall"},{"family":"abnormality of external features of the abdomen"},{"family":"The presence of any abnormality affecting the abdominal wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004298","type":"entry-dictionary","title":"Abnormality of the abdominal wall"},{"container-title":"HP:0004299","author":[{"family":"herniated abdominal wall"},{"family":"The presence of a hernia in the abdominal wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004299","type":"entry-dictionary","title":"Hernia of the abdominal wall"},{"container-title":"HP:0004302","author":[{"family":"functional motor problems"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004302","type":"entry-dictionary","title":"Functional motor deficit"},{"container-title":"HP:0004303","author":[{"family":"abnormal skeletal muscle fiber morphology"},{"family":"Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004303","type":"entry-dictionary","title":"Abnormality of muscle fibers"},{"container-title":"HP:0004305","author":[{"family":"involuntary muscle contractions"},{"family":"involuntary movements"},{"family":"Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004305","type":"entry-dictionary","title":"Involuntary movements"},{"container-title":"HP:0004306","author":[{"family":"abnormality of the endocardium"},{"family":"abnormality of the endomycoardium"},{"family":"An abnormality of the endocardium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004306","type":"entry-dictionary","title":"Abnormal endocardium morphology"},{"container-title":"HP:0004307","author":[{"family":"Thickening of the left ventricle wall with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004307","type":"entry-dictionary","title":"Abnormal anatomic location of the heart"},{"container-title":"HP:0004308","author":[{"family":"ventricular arrhythmias"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004308","type":"entry-dictionary","title":"Ventricular arrhythmia"},{"container-title":"HP:0004309","author":[{"family":"preexcitation"},{"family":"ventricular pre-excitation"},{"family":"pre-excitation syndrome"},{"family":"An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004309","type":"entry-dictionary","title":"Ventricular preexcitation"},{"container-title":"HP:0004311","author":[{"family":"abnormality of histiocytes"},{"family":"abnormality of macrophages"},{"family":"An abnormality of macrophages."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004311","type":"entry-dictionary","title":"Abnormal macrophage morphology"},{"container-title":"HP:0004312","author":[{"family":"A reticulocyte abnormality."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004312","type":"entry-dictionary","title":"Abnormality of reticulocytes"},{"container-title":"HP:0004313","author":[{"family":"reduced immunoglobulin levels"},{"family":"decreased immunoglobulin level"},{"family":"decreased serum immunoglobulin"},{"family":"immunoglobulin deficiency"},{"family":"hypogammaglobulinemia"},{"family":"An abnormally decreased level of immunoglobulin in blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004313","type":"entry-dictionary","title":"Decreased antibody level in blood"},{"container-title":"HP:0004315","author":[{"family":"reduced igg levels"},{"family":"decreased serum igg"},{"family":"decreased igg level"},{"family":"decreased immunoglobulin g"},{"family":"decreased gamma-globin expression"},{"family":"An abnormally decreased level of immunoglobulin IgG in blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004315","type":"entry-dictionary","title":"IgG deficiency"},{"container-title":"HP:0004319","author":[{"family":"decreased serum aldosterone"},{"family":"hypoaldosteronism"},{"family":"decreased aldosterone production"},{"family":"mineralocorticoid insufficiency"},{"family":"Abnormally reduced levels of aldosterone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004319","type":"entry-dictionary","title":"Decreased circulating aldosterone level"},{"container-title":"HP:0004320","author":[{"family":"The presence of a fistula of the vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004320","type":"entry-dictionary","title":"Vaginal fistula"},{"container-title":"HP:0004321","author":[{"family":"The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004321","type":"entry-dictionary","title":"Bladder fistula"},{"container-title":"HP:0004322","author":[{"family":"stature below 3rd percentile"},{"family":"small stature"},{"family":"height less than 3rd percentile"},{"family":"short stature"},{"family":"decreased body height"},{"family":"A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004322","type":"entry-dictionary","title":"Short stature"},{"container-title":"HP:0004323","author":[{"family":"abnormality of body weight"},{"family":"abnormality of habitus"},{"family":"An abnormal increase or decrease of weight or an abnormal distribution of mass in the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004323","type":"entry-dictionary","title":"Abnormality of body weight"},{"container-title":"HP:0004324","author":[{"family":"weight gain"},{"family":"increased body weight"},{"family":"Abnormally increased body weight."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004324","type":"entry-dictionary","title":"Increased body weight"},{"container-title":"HP:0004325","author":[{"family":"decreased weight"},{"family":"decreased body weight"},{"family":"low body weight"},{"family":"low weight"},{"family":"weight less than 3rd percentile"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004325","type":"entry-dictionary","title":"Decreased body weight"},{"container-title":"HP:0004326","author":[{"family":"wasting syndrome"},{"family":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004326","type":"entry-dictionary","title":"Cachexia"},{"container-title":"HP:0004327","author":[{"family":"Any structural anomaly of the vitreous body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004327","type":"entry-dictionary","title":"Abnormal vitreous humor morphology"},{"container-title":"HP:0004328","author":[{"family":"abnormality of the anterior segment of the globe"},{"family":"abnormality of the anterior segment of the eyeball"},{"family":"An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004328","type":"entry-dictionary","title":"Abnormal anterior segment morphology"},{"container-title":"HP:0004329","author":[{"family":"abnormality of the posterior segment of the eyeball"},{"family":"abnormality of the posterior segment of the globe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004329","type":"entry-dictionary","title":"Abnormal morphology of the posterior segment of the globe"},{"container-title":"HP:0004330","author":[{"family":"sclerosis of skull"},{"family":"hyperossification of skull"},{"family":"increased mineralization of skull"},{"family":"increased calcification of skull"},{"family":"hyperostosis of skull"},{"family":"sclerosis of bones of skull"},{"family":"An increase in the magnitude or amount of ossification of the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004330","type":"entry-dictionary","title":"Increased skull ossification"},{"container-title":"HP:0004331","author":[{"family":"deficient skull ossification"},{"family":"hypoossification of skull"},{"family":"poorly ossified skull bones"},{"family":"decreased mineralization of skull"},{"family":"ossification defect of skull"},{"family":"poorly mineralized skull"},{"family":"decreased calcification of skull"},{"family":"A reduction in the magnitude or amount of ossification of the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004331","type":"entry-dictionary","title":"Decreased skull ossification"},{"container-title":"HP:0004332","author":[{"family":"abnormal lymphocytes"},{"family":"abnormality of cells of the lymphoid lineage"},{"family":"An abnormality of lymphocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004332","type":"entry-dictionary","title":"Abnormal lymphocyte morphology"},{"container-title":"HP:0004333","author":[{"family":"large vacuolated foam cells ('np cells') on bone marrow biopsy"},{"family":"large vacuolated foam cells on bone marrow biopsy"},{"family":"bone marrow foam cells"},{"family":"The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004333","type":"entry-dictionary","title":"Bone-marrow foam cells"},{"container-title":"HP:0004334","author":[{"family":"skin degeneration"},{"family":"skin atrophy"},{"family":"atrophic skin"},{"family":"Partial or complete wasting (atrophy) of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004334","type":"entry-dictionary","title":"Dermal atrophy"},{"container-title":"HP:0004336","author":[{"family":"irregular myelin foldings"},{"family":"excessive focal folding of myelin sheaths"},{"family":"The presence of excessive redundant myelin in the peripheral nerve sheath."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004336","type":"entry-dictionary","title":"Myelin outfoldings"},{"container-title":"HP:0004337","author":[{"family":"amino acid levels abnormal"},{"family":"Abnormality of an amino acid metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004337","type":"entry-dictionary","title":"Abnormality of amino acid metabolism"},{"container-title":"HP:0004338","author":[{"family":"An abnormality of a aromatic amino acid family metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004338","type":"entry-dictionary","title":"Abnormality of aromatic amino acid family metabolism"},{"container-title":"HP:0004339","author":[{"family":"abnormality of sulfur-containing amino acids"},{"family":"An abnormality of a sulfur amino acid metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004339","type":"entry-dictionary","title":"Abnormality of sulfur amino acid metabolism"},{"container-title":"HP:0004340","author":[{"family":"abnormality of b-vitamin metabolism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004340","type":"entry-dictionary","title":"Abnormality of vitamin B metabolism"},{"container-title":"HP:0004341","author":[{"family":"abnormality of the vitamin b12 metabolism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004341","type":"entry-dictionary","title":"Abnormality of vitamin B12 metabolism"},{"container-title":"HP:0004342","author":[{"family":"Abnormality of galactoside metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004342","type":"entry-dictionary","title":"Abnormality of galactoside metabolism"},{"container-title":"HP:0004343","author":[{"family":"An abnormality of glycosphingolipid metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004343","type":"entry-dictionary","title":"Abnormality of glycosphingolipid metabolism"},{"container-title":"HP:0004344","author":[{"family":"Abnormality of cerebrosidase metabolism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004344","type":"entry-dictionary","title":"Abnormality of cerebrosidase metabolism"},{"container-title":"HP:0004345","author":[{"family":"Abnormality of ganglioside metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004345","type":"entry-dictionary","title":"Abnormality of ganglioside metabolism"},{"container-title":"HP:0004347","author":[{"family":"Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004347","type":"entry-dictionary","title":"Weakness of muscles of respiration"},{"container-title":"HP:0004348","author":[{"family":"abnormality of bone mineralisation and ossification"},{"family":"This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g\/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004348","type":"entry-dictionary","title":"Abnormality of bone mineral density"},{"container-title":"HP:0004349","author":[{"family":"decreased bone mineral density z score"},{"family":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004349","type":"entry-dictionary","title":"Reduced bone mineral density"},{"container-title":"HP:0004352","author":[{"family":"Abnormality of purine metabolism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004352","type":"entry-dictionary","title":"Abnormality of purine metabolism"},{"container-title":"HP:0004353","author":[{"family":"An abnormality of a pyrimidine base metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004353","type":"entry-dictionary","title":"Abnormality of pyrimidine metabolism"},{"container-title":"HP:0004354","author":[{"family":"An abnormality of the metabolism of a carboxylic acid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004354","type":"entry-dictionary","title":"Abnormality of carboxylic acid metabolism"},{"container-title":"HP:0004355","author":[{"family":"An abnormality of proteoglycan metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004355","type":"entry-dictionary","title":"Abnormality of proteoglycan metabolism"},{"container-title":"HP:0004356","author":[{"family":"Abnormality of lysosomal metabolism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004356","type":"entry-dictionary","title":"Abnormality of lysosomal metabolism"},{"container-title":"HP:0004357","author":[{"family":"Abnormality of a leucine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004357","type":"entry-dictionary","title":"Abnormality of leucine metabolism"},{"container-title":"HP:0004358","author":[{"family":"Abnormality of superoxide metabolism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004358","type":"entry-dictionary","title":"Abnormality of superoxide metabolism"},{"container-title":"HP:0004359","author":[{"family":"abnormality of fatty acid metabolism"},{"family":"fatty acids abnormal"},{"family":"An abnormality of fatty acid metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004359","type":"entry-dictionary","title":"Abnormality of fatty-acid metabolism"},{"container-title":"HP:0004360","author":[{"family":"acid base imbalance"},{"family":"An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004360","type":"entry-dictionary","title":"Abnormality of acid-base homeostasis"},{"container-title":"HP:0004361","author":[{"family":"An abnormal concentration of leptin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004361","type":"entry-dictionary","title":"Abnormality of circulating leptin level"},{"container-title":"HP:0004362","author":[{"family":"abnormality of the enteric ganglia"},{"family":"An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004362","type":"entry-dictionary","title":"Abnormality of enteric ganglion morphology"},{"container-title":"HP:0004363","author":[{"family":"An abnormality of calcium ion homeostasis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004363","type":"entry-dictionary","title":"Abnormality of calcium homeostasis"},{"container-title":"HP:0004364","author":[{"family":"The presence of an abnormal concentration of nitrogen compounds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004364","type":"entry-dictionary","title":"Abnormality of nitrogen compound homeostasis"},{"container-title":"HP:0004365","author":[{"family":"An abnormality of tryptophan metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004365","type":"entry-dictionary","title":"Abnormality of tryptophan metabolism"},{"container-title":"HP:0004366","author":[{"family":"An abnormality of glycolysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004366","type":"entry-dictionary","title":"Abnormality of glycolysis"},{"container-title":"HP:0004367","author":[{"family":"An abnormality of a glycoprotein metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004367","type":"entry-dictionary","title":"Abnormality of glycoprotein metabolism"},{"container-title":"HP:0004368","author":[{"family":"increased purine levels"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004368","type":"entry-dictionary","title":"Increased purine levels"},{"container-title":"HP:0004369","author":[{"family":"decreased purine levels"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004369","type":"entry-dictionary","title":"Decreased purine levels"},{"container-title":"HP:0004370","author":[{"family":"body temperature changes"},{"family":"abnormality of temperature regulation"},{"family":"poor temperature regulation"},{"family":"An abnormality of temperature homeostasis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004370","type":"entry-dictionary","title":"Abnormality of temperature regulation"},{"container-title":"HP:0004371","author":[{"family":"Abnormality of glycosaminoglycan metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004371","type":"entry-dictionary","title":"Abnormality of glycosaminoglycan metabolism"},{"container-title":"HP:0004372","author":[{"family":"disturbances of consciousness"},{"family":"lowered consciousness"},{"family":"reduced consciousness\/confusion"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004372","type":"entry-dictionary","title":"Reduced consciousness\/confusion"},{"container-title":"HP:0004373","author":[{"family":"A type of dystonia that is localized to a specific part of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004373","type":"entry-dictionary","title":"Focal dystonia"},{"container-title":"HP:0004374","author":[{"family":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004374","type":"entry-dictionary","title":"Hemiplegia\/hemiparesis"},{"container-title":"HP:0004375","author":[{"family":"nervous system cancer"},{"family":"neoplasia of the nervous system"},{"family":"tumor of the nervous system"},{"family":"A tumor (abnormal growth of tissue) of the nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004375","type":"entry-dictionary","title":"Neoplasm of the nervous system"},{"container-title":"HP:0004376","author":[{"family":"Neuroblastic tumors"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004376","type":"entry-dictionary","title":"Neuroblastic tumors"},{"container-title":"HP:0004377","author":[{"family":"blood tumor"},{"family":"Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004377","type":"entry-dictionary","title":"Hematological neoplasm"},{"container-title":"HP:0004378","author":[{"family":"abnormality of the anus"},{"family":"Abnormality of the anal canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004378","type":"entry-dictionary","title":"Abnormality of the anus"},{"container-title":"HP:0004379","author":[{"family":"alkaline phosphytase abnormal"},{"family":"An abnormality of alkaline phosphatase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004379","type":"entry-dictionary","title":"Abnormality of alkaline phosphatase activity"},{"container-title":"HP:0004380","author":[{"family":"Deposition of calcium salts in the aortic valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004380","type":"entry-dictionary","title":"Aortic valve calcification"},{"container-title":"HP:0004381","author":[{"family":"A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004381","type":"entry-dictionary","title":"Supravalvular aortic stenosis"},{"container-title":"HP:0004382","author":[{"family":"Abnormal calcification of the mitral valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004382","type":"entry-dictionary","title":"Mitral valve calcification"},{"container-title":"HP:0004383","author":[{"family":"underdeveloped left heart"},{"family":"Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004383","type":"entry-dictionary","title":"Hypoplastic left heart"},{"container-title":"HP:0004384","author":[{"family":"persistent truncus arteriosus type i"},{"family":"type 1 truncus arteriosus"},{"family":"Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004384","type":"entry-dictionary","title":"Type I truncus arteriosus"},{"container-title":"HP:0004385","author":[{"family":"Protracted diarrhea"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004385","type":"entry-dictionary","title":"Protracted diarrhea"},{"container-title":"HP:0004386","author":[{"family":"gastrointestinal inflammation"},{"family":"Inflammation of the alimentary part of the gastrointestinal system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004386","type":"entry-dictionary","title":"Gastrointestinal inflammation"},{"container-title":"HP:0004387","author":[{"family":"An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004387","type":"entry-dictionary","title":"Enterocolitis"},{"container-title":"HP:0004388","author":[{"family":"microcolon on contrast enema"},{"family":"A colon of abnormally small caliber."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004388","type":"entry-dictionary","title":"Microcolon"},{"container-title":"HP:0004389","author":[{"family":"intestinal pseudoobstruction"},{"family":"A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004389","type":"entry-dictionary","title":"Intestinal pseudo-obstruction"},{"container-title":"HP:0004390","author":[{"family":"gastrointestinal hamartomatous polyps"},{"family":"Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004390","type":"entry-dictionary","title":"Hamartomatous polyposis"},{"container-title":"HP:0004392","author":[{"family":"prune belly"},{"family":"A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004392","type":"entry-dictionary","title":"Prune belly"},{"container-title":"HP:0004394","author":[{"family":"Multiple gastric polyps"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004394","type":"entry-dictionary","title":"Multiple gastric polyps"},{"container-title":"HP:0004395","author":[{"family":"malnutrition"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004395","type":"entry-dictionary","title":"Malnutrition"},{"container-title":"HP:0004396","author":[{"family":"no appetite"},{"family":"poor appetite"},{"family":"decreased appetite"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004396","type":"entry-dictionary","title":"Poor appetite"},{"container-title":"HP:0004397","author":[{"family":"anus malposition"},{"family":"abnormal anus position"},{"family":"Abnormal displacement or malposition of the anus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004397","type":"entry-dictionary","title":"Ectopic anus"},{"container-title":"HP:0004398","author":[{"family":"An ulcer of the gastrointestinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004398","type":"entry-dictionary","title":"Peptic ulcer"},{"container-title":"HP:0004399","author":[{"family":"Congenital atresia of the pylorus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004399","type":"entry-dictionary","title":"Congenital pyloric atresia"},{"container-title":"HP:0004400","author":[{"family":"An abnormality of the pylorus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004400","type":"entry-dictionary","title":"Abnormality of the pylorus"},{"container-title":"HP:0004401","author":[{"family":"meconium ileus on ultrasonography"},{"family":"meconium ileus in neonates"},{"family":"distal intestinal obstruction syndrome"},{"family":"Obstruction of the intestine due to abnormally thick meconium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004401","type":"entry-dictionary","title":"Meconium ileus"},{"container-title":"HP:0004403","author":[{"family":"Proximal esophageal atresia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004403","type":"entry-dictionary","title":"Proximal esophageal atresia"},{"container-title":"HP:0004404","author":[{"family":"abnormality of the nipple"},{"family":"An abnormality of the nipple."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004404","type":"entry-dictionary","title":"Abnormal nipple morphology"},{"container-title":"HP:0004405","author":[{"family":"prominent nipples"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004405","type":"entry-dictionary","title":"Prominent nipples"},{"container-title":"HP:0004406","author":[{"family":"recurrent epistaxis"},{"family":"spontaneous, recurrent nosebleed"},{"family":"recurring nosebleed"},{"family":"recurrent epistaxes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004406","type":"entry-dictionary","title":"Spontaneous, recurrent epistaxis"},{"container-title":"HP:0004407","author":[{"family":"Bony paranasal bossing"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004407","type":"entry-dictionary","title":"Bony paranasal bossing"},{"container-title":"HP:0004408","author":[{"family":"abnormal sense of smell"},{"family":"abnormality of olfaction"},{"family":"smell defect"},{"family":"abnormality of the sense of smell"},{"family":"An anomaly in the ability to perceive and distinguish scents (odors)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004408","type":"entry-dictionary","title":"Abnormality of the sense of smell"},{"container-title":"HP:0004409","author":[{"family":"decreased smell sensation"},{"family":"sense of smell impaired"},{"family":"A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004409","type":"entry-dictionary","title":"Hyposmia"},{"container-title":"HP:0004411","author":[{"family":"crooked nasal septum"},{"family":"crooked septum of nose"},{"family":"deviated septum of nose"},{"family":"deviated nasal septum"},{"family":"Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004411","type":"entry-dictionary","title":"Deviated nasal septum"},{"container-title":"HP:0004414","author":[{"family":"abnormality of lung artery"},{"family":"An abnormality of the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004414","type":"entry-dictionary","title":"Abnormality of the pulmonary artery"},{"container-title":"HP:0004415","author":[{"family":"narrowing of lung artery"},{"family":"An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and\/or in the left or right pulmonary artery branches."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004415","type":"entry-dictionary","title":"Pulmonary artery stenosis"},{"container-title":"HP:0004416","author":[{"family":"premature plaque build-up in arteries"},{"family":"premature atherosclerosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004416","type":"entry-dictionary","title":"Precocious atherosclerosis"},{"container-title":"HP:0004417","author":[{"family":"Intermittent claudication"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004417","type":"entry-dictionary","title":"Intermittent claudication"},{"container-title":"HP:0004418","author":[{"family":"Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004418","type":"entry-dictionary","title":"Thrombophlebitis"},{"container-title":"HP:0004419","author":[{"family":"recurrent thrombosis"},{"family":"recurrent phlebitis"},{"family":"Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004419","type":"entry-dictionary","title":"Recurrent thrombophlebitis"},{"container-title":"HP:0004420","author":[{"family":"blood clot in artery"},{"family":"The formation of a blood clot inside an artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004420","type":"entry-dictionary","title":"Arterial thrombosis"},{"container-title":"HP:0004421","author":[{"family":"Abnormal increase in systolic blood pressure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004421","type":"entry-dictionary","title":"Elevated systolic blood pressure"},{"container-title":"HP:0004422","author":[{"family":"decreased width of the skull"},{"family":"A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004422","type":"entry-dictionary","title":"Biparietal narrowing"},{"container-title":"HP:0004423","author":[{"family":"Cranium bifidum occultum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004423","type":"entry-dictionary","title":"Cranium bifidum occultum"},{"container-title":"HP:0004425","author":[{"family":"flat forehead"},{"family":"flattened forehead"},{"family":"frontal flattening"},{"family":"A forehead with abnormal flatness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004425","type":"entry-dictionary","title":"Flat forehead"},{"container-title":"HP:0004426","author":[{"family":"anomaly of the cheeks"},{"family":"abnormality of the cheeks"},{"family":"deformity of the cheeks"},{"family":"malformation of the cheeks"},{"family":"An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004426","type":"entry-dictionary","title":"Abnormality of the cheek"},{"container-title":"HP:0004428","author":[{"family":"elf-like facial features"},{"family":"leprechaun facies"},{"family":"elf-like facial appearance"},{"family":"This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004428","type":"entry-dictionary","title":"Elfin facies"},{"container-title":"HP:0004429","author":[{"family":"Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004429","type":"entry-dictionary","title":"Recurrent viral infections"},{"container-title":"HP:0004430","author":[{"family":"immunodeficiency, severe combined"},{"family":"A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004430","type":"entry-dictionary","title":"Severe combined immunodeficiency"},{"container-title":"HP:0004431","author":[{"family":"An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004431","type":"entry-dictionary","title":"Complement deficiency"},{"container-title":"HP:0004432","author":[{"family":"agammaglobulinaemia"},{"family":"Absence or extremely low level of generally all classes of gamma-globulin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004432","type":"entry-dictionary","title":"Agammaglobulinemia"},{"container-title":"HP:0004433","author":[{"family":"Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004433","type":"entry-dictionary","title":"Secretory IgA deficiency"},{"container-title":"HP:0004434","author":[{"family":"A reduced level of the complement component C8 in circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004434","type":"entry-dictionary","title":"C8 deficiency"},{"container-title":"HP:0004437","author":[{"family":"hyperostosis of cranial bones"},{"family":"increased ossification of cranial bones"},{"family":"overgrowth of skull bones"},{"family":"thick skull bones"},{"family":"hypertrophy of cranial bones"},{"family":"enlargement of skull bones"},{"family":"excessive growth of skull bones"},{"family":"hyperostosis of cranial vault"},{"family":"Excessive growth of the bones of cranium, i.e., of the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004437","type":"entry-dictionary","title":"Cranial hyperostosis"},{"container-title":"HP:0004438","author":[{"family":"overgrowth of the inner surface of the frontal bone"},{"family":"thick inner surface of the frontal bone"},{"family":"excessive growth of inner surface of the frontal bone"},{"family":"increased ossification of the internal surface of the frontal bone"},{"family":"thick internal surface of the frontal bone"},{"family":"hyperostosis of the internal surface of the frontal bone"},{"family":"overgrowth of the inside of the frontal bone"},{"family":"enlargement of the inner surface of the frontal bone"},{"family":"hypertrophy of the internal surface of the frontal bone"},{"family":"Bony overgrowth of the internal (endosteal) surface of the frontal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004438","type":"entry-dictionary","title":"Hyperostosis frontalis interna"},{"container-title":"HP:0004439","author":[{"family":"crouzon syndrome"},{"family":"A characteristic appearance resulting from defective ossification of craniofacial bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004439","type":"entry-dictionary","title":"Craniofacial dysostosis"},{"container-title":"HP:0004440","author":[{"family":"craniosynostosis of coronal suture"},{"family":"coronal suture craniosynostosis"},{"family":"coronal suture 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sphere-shaped."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004444","type":"entry-dictionary","title":"Spherocytosis"},{"container-title":"HP:0004445","author":[{"family":"hereditary elliptocytosis"},{"family":"ovalocytosis"},{"family":"The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004445","type":"entry-dictionary","title":"Elliptocytosis"},{"container-title":"HP:0004446","author":[{"family":"erythrocyte stomatocytes"},{"family":"red cell stomatocytosis"},{"family":"The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004446","type":"entry-dictionary","title":"Stomatocytosis"},{"container-title":"HP:0004447","author":[{"family":"The presence of abnormally shaped erythrocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004447","type":"entry-dictionary","title":"Poikilocytosis"},{"container-title":"HP:0004448","author":[{"family":"Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004448","type":"entry-dictionary","title":"Fulminant hepatic failure"},{"container-title":"HP:0004450","author":[{"family":"preauricular skin sulcus"},{"family":"skin sulcus behind the ear"},{"family":"preauricular skin furrows"},{"family":"preauricular skin groove"},{"family":"skin groove behind the ear"},{"family":"A groove of the skin immediately in front of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004450","type":"entry-dictionary","title":"Preauricular skin furrow"},{"container-title":"HP:0004451","author":[{"family":"postauricular fibroepithelial polyp"},{"family":"skin tag behind the ear"},{"family":"postauricular acrochordon"},{"family":"A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004451","type":"entry-dictionary","title":"Postauricular skin tag"},{"container-title":"HP:0004452","author":[{"family":"malformed ossicles"},{"family":"ossicular malformation"},{"family":"An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004452","type":"entry-dictionary","title":"Abnormality of the middle ear ossicles"},{"container-title":"HP:0004453","author":[{"family":"reduced anterior-posterior diameter of vertebral bodies"},{"family":"overfolding of superior helix"},{"family":"A condition in which the superior portion of the helix is folded over to a greater degree than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004453","type":"entry-dictionary","title":"Overfolding of the superior helices"},{"container-title":"HP:0004454","author":[{"family":"Abnormal middle ear reflexes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004454","type":"entry-dictionary","title":"Abnormal middle ear reflexes"},{"container-title":"HP:0004458","author":[{"family":"bulbous internal auditory canal"},{"family":"enlarged internal auditory canal"},{"family":"The presence of a dilated inner part of external acoustic meatus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004458","type":"entry-dictionary","title":"Dilatated internal auditory canal"},{"container-title":"HP:0004459","author":[{"family":"external auditory canal exostoses"},{"family":"A benign bony growth projecting outward from a bone surface within the external auditory canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004459","type":"entry-dictionary","title":"Exostosis of the external auditory canal"},{"container-title":"HP:0004461","author":[{"family":"posterior wedging"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004461","type":"entry-dictionary","title":"Congenital earlobe sinuses"},{"container-title":"HP:0004463","author":[{"family":"no auditory brainstem response"},{"family":"Lack of measurable response to stimulation of auditory evoked potentials."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004463","type":"entry-dictionary","title":"Absent brainstem auditory responses"},{"container-title":"HP:0004464","author":[{"family":"posterior auricular pit"},{"family":"postauricular fistula"},{"family":"posterior auricular sinus"},{"family":"pit behind the ear"},{"family":"postauricular earpits"},{"family":"Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004464","type":"entry-dictionary","title":"Postauricular pit"},{"container-title":"HP:0004466","author":[{"family":"Prolonged brainstem auditory evoked potentials"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004466","type":"entry-dictionary","title":"Prolonged brainstem auditory evoked potentials"},{"container-title":"HP:0004467","author":[{"family":"preauricular fistulas"},{"family":"pit in front of the ear"},{"family":"preauricular sinus"},{"family":"preauricular pits"},{"family":"preauricular earpits"},{"family":"Small indentation anterior to the insertion of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004467","type":"entry-dictionary","title":"Preauricular pit"},{"container-title":"HP:0004468","author":[{"family":"abnormal tracheal cartilaginous ring"},{"family":"An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004468","type":"entry-dictionary","title":"Anomalous tracheal cartilage"},{"container-title":"HP:0004469","author":[{"family":"Chronic inflammation of the bronchi."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004469","type":"entry-dictionary","title":"Chronic bronchitis"},{"container-title":"HP:0004470","author":[{"family":"A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004470","type":"entry-dictionary","title":"Atretic occipital cephalocele"},{"container-title":"HP:0004471","author":[{"family":"absent cutis congenita of vertex"},{"family":"aplasia cutis congenita of vertex"},{"family":"A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004471","type":"entry-dictionary","title":"Aplasia cutis congenita over the scalp vertex"},{"container-title":"HP:0004472","author":[{"family":"hyperostosis of mandibular bone"},{"family":"thick lower jaw bone"},{"family":"thick mandibular bone"},{"family":"excessive growth of mandibular bone"},{"family":"overgrowth of mandibular bone"},{"family":"increased ossification of mandibular bone"},{"family":"increased ossification of lower jaw"},{"family":"increased ossification of mandible"},{"family":"hyperostosis of lower jaw"},{"family":"Hyperostosis (bony overgrowth) of the mandible."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004472","type":"entry-dictionary","title":"Mandibular hyperostosis"},{"container-title":"HP:0004474","author":[{"family":"anterior fontanelle open in adults"},{"family":"persistent, open anterior fontanel"},{"family":"front fontanelle stays open"},{"family":"The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004474","type":"entry-dictionary","title":"Persistent open anterior fontanelle"},{"container-title":"HP:0004476","author":[{"family":"absent cutis congenita over parietal area"},{"family":"A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004476","type":"entry-dictionary","title":"Aplasia cutis congenita over parietal area"},{"container-title":"HP:0004478","author":[{"family":"Ethmoidal encephalocele"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004478","type":"entry-dictionary","title":"Ethmoidal encephalocele"},{"container-title":"HP:0004481","author":[{"family":"macrocephaly, progressive"},{"family":"progressively abnormally enlarging skull"},{"family":"progressively abnormally enlarging cranium"},{"family":"The progressive development of an abnormally large skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004481","type":"entry-dictionary","title":"Progressive macrocephaly"},{"container-title":"HP:0004482","author":[{"family":"disproportionately large head"},{"family":"macrocephaly, relative"},{"family":"relatively large head"},{"family":"A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004482","type":"entry-dictionary","title":"Relative macrocephaly"},{"container-title":"HP:0004484","author":[{"family":"abnormality of craniofacial shape"},{"family":"uneven craniofacial structures"},{"family":"malformation of craniofacial shape"},{"family":"Asymmetry of the bones of the skull and the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004484","type":"entry-dictionary","title":"Craniofacial asymmetry"},{"container-title":"HP:0004485","author":[{"family":"skull stopped growing"},{"family":"cranium stopped growing"},{"family":"head stopped growing"},{"family":"Stagnation of head growth seen as flattening of the head circumference curve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004485","type":"entry-dictionary","title":"Cessation of head growth"},{"container-title":"HP:0004487","author":[{"family":"An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004487","type":"entry-dictionary","title":"Acrobrachycephaly"},{"container-title":"HP:0004488","author":[{"family":"big head present since birth"},{"family":"congenital large cranium"},{"family":"big cranium present since birth"},{"family":"head circumference large for gestational age"},{"family":"big cranium present at birth"},{"family":"big skull present at birth"},{"family":"large cranium present at birth"},{"family":"large skull present at birth"},{"family":"congenital macrocephaly"},{"family":"big head present at birth"},{"family":"large cranium present since birth"},{"family":"large skull present since birth"},{"family":"big skull present since birth"},{"family":"congenital large head"},{"family":"congenital large skull"},{"family":"large head present at birth"},{"family":"large head present since birth"},{"family":"The presence of an abnormally large skull with onset at birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004488","type":"entry-dictionary","title":"Macrocephaly at birth"},{"container-title":"HP:0004490","author":[{"family":"thick calvarial bones"},{"family":"enlargement of calvarial bones"},{"family":"overgrowth of calvarial bones"},{"family":"excessive growth of calvarial bones"},{"family":"hypertrophy of calvarial bones"},{"family":"increased ossification of calvarial bones"},{"family":"overgrowth of skullcap"},{"family":"hyperostosis of calvarial bones"},{"family":"Excessive growth of the calvaria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004490","type":"entry-dictionary","title":"Calvarial hyperostosis"},{"container-title":"HP:0004491","author":[{"family":"large posterior fontanel"},{"family":"An enlargement of the posterior fontanelle relative to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004491","type":"entry-dictionary","title":"Large posterior fontanelle"},{"container-title":"HP:0004492","author":[{"family":"widely patent fontanels and sutures"},{"family":"An abnormally increased width of the cranial fontanelles and sutures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004492","type":"entry-dictionary","title":"Widely patent fontanelles and sutures"},{"container-title":"HP:0004493","author":[{"family":"hypertrophy of craniofacial bones"},{"family":"hyperostosis of craniofacial bones"},{"family":"enlargement of craniofacial bones"},{"family":"excessive growth of craniofacial bones"},{"family":"increased ossification of craniofacial bones"},{"family":"overgrowth of craniofacial bones"},{"family":"thick craniofacial bones"},{"family":"Excessive growth of the craniofacial bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004493","type":"entry-dictionary","title":"Craniofacial hyperostosis"},{"container-title":"HP:0004495","author":[{"family":"Thin anteverted nares"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004495","type":"entry-dictionary","title":"Thin anteverted nares"},{"container-title":"HP:0004496","author":[{"family":"Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004496","type":"entry-dictionary","title":"Posterior choanal atresia"},{"container-title":"HP:0004499","author":[{"family":"chronic nasal inflammation due to narrow nasal airway"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004499","type":"entry-dictionary","title":"Chronic rhinitis due to narrow nasal airway"},{"container-title":"HP:0004502","author":[{"family":"bilateral blockage of the rear opening of the nasal cavity"},{"family":"bilateral obstruction of the rear opening of the nasal cavity"},{"family":"Bilateral absence (atresia) of the posterior nasal aperture (choana)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004502","type":"entry-dictionary","title":"Bilateral choanal atresia"},{"container-title":"HP:0004510","author":[{"family":"pancreatic islet-cell hypertrophy"},{"family":"hyperplastic islets of langerhans"},{"family":"islet of langerhans hyperplasia"},{"family":"hypertrophic pancreatic islets"},{"family":"islets of langerhans hypertrophy"},{"family":"Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004510","type":"entry-dictionary","title":"Pancreatic islet-cell hyperplasia"},{"container-title":"HP:0004523","author":[{"family":"elongated eyebrow"},{"family":"long eyebrows"},{"family":"increased transverse length of eyebrow"},{"family":"increased horizontal length of eyebrow"},{"family":"Increased length of the hairs of the eyebrows."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004523","type":"entry-dictionary","title":"Long eyebrows"},{"container-title":"HP:0004524","author":[{"family":"reduced hair growth in temporal region"},{"family":"Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004524","type":"entry-dictionary","title":"Temporal hypotrichosis"},{"container-title":"HP:0004527","author":[{"family":"large clumps of pigment irregularly distributed along hair shaft"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004527","type":"entry-dictionary","title":"Large clumps of pigment irregularly distributed along hair shaft"},{"container-title":"HP:0004528","author":[{"family":"hypotrichosis, generalized"},{"family":"Reduced or lacking hair growth in a generalized distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004528","type":"entry-dictionary","title":"Generalized hypotrichosis"},{"container-title":"HP:0004529","author":[{"family":"Atrophic, patchy alopecia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004529","type":"entry-dictionary","title":"Atrophic, patchy alopecia"},{"container-title":"HP:0004532","author":[{"family":"Excessive, increased hair growth located in the sacral region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004532","type":"entry-dictionary","title":"Sacral hypertrichosis"},{"container-title":"HP:0004535","author":[{"family":"congenital cervical hypertrichosis"},{"family":"hypertrichosis, congenital anterior cervical"},{"family":"Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004535","type":"entry-dictionary","title":"Anterior cervical hypertrichosis"},{"container-title":"HP:0004540","author":[{"family":"hypertrichosis universalis"},{"family":"congenital generalized hypertrichosis"},{"family":"A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004540","type":"entry-dictionary","title":"Congenital, generalized hypertrichosis"},{"container-title":"HP:0004544","author":[{"family":"pointed hairline at front of head"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004544","type":"entry-dictionary","title":"Pointed frontal hairline"},{"container-title":"HP:0004552","author":[{"family":"hair loss on scalp from scarring condition"},{"family":"cicatricial alopecia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004552","type":"entry-dictionary","title":"Scarring alopecia of scalp"},{"container-title":"HP:0004554","author":[{"family":"Generalized excessive, abnormal hairiness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004554","type":"entry-dictionary","title":"Generalized hypertrichosis"},{"container-title":"HP:0004557","author":[{"family":"Anterior vertebral fusion"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004557","type":"entry-dictionary","title":"Anterior vertebral fusion"},{"container-title":"HP:0004558","author":[{"family":"flattened cervical vertebral bodies"},{"family":"A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004558","type":"entry-dictionary","title":"Cervical platyspondyly"},{"container-title":"HP:0004562","author":[{"family":"Beaking of vertebral bodies 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kyphosis"},{"container-title":"HP:0004634","author":[{"family":"cuboid vertebral bodies"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004634","type":"entry-dictionary","title":"Cuboid-shaped vertebral bodies"},{"container-title":"HP:0004635","author":[{"family":"Fusion of the C5 and C6 cervical vertebrae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004635","type":"entry-dictionary","title":"Cervical C5\/C6 vertebrae fusion"},{"container-title":"HP:0004637","author":[{"family":"limited neck movement"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004637","type":"entry-dictionary","title":"Decreased cervical spine mobility"},{"container-title":"HP:0004639","author":[{"family":"elevated amniotic fluid alpha fetal protein"},{"family":"elevated amniotic fluid alpha-1-fetoprotein"},{"family":"elevated amniotic fluid alpha-fetoglobulin"},{"family":"An elevation of alpha-feto protein measured in the amniotic 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emotions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004673","type":"entry-dictionary","title":"Decreased facial expression"},{"container-title":"HP:0004676","author":[{"family":"Prominent supraorbital arches in adult"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004676","type":"entry-dictionary","title":"Prominent supraorbital arches in adult"},{"container-title":"HP:0004679","author":[{"family":"large ankle bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004679","type":"entry-dictionary","title":"Large tarsal bones"},{"container-title":"HP:0004681","author":[{"family":"longitudinal groove on soles"},{"family":"foot crease"},{"family":"Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004681","type":"entry-dictionary","title":"Deep longitudinal plantar crease"},{"container-title":"HP:0004684","author":[{"family":"Outward turning of the heel, resulting in clubfoot with the person walking on the 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bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004699","type":"entry-dictionary","title":"Osteoporotic metatarsal"},{"container-title":"HP:0004704","author":[{"family":"hypoplasia of the fifth metatarsal bone"},{"family":"short 5th long bone of foot"},{"family":"Short (hypoplastic) fifth metatarsal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004704","type":"entry-dictionary","title":"Short fifth metatarsal"},{"container-title":"HP:0004712","author":[{"family":"abnormal rotation of the kidneys"},{"family":"malrotation of the kidney"},{"family":"An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004712","type":"entry-dictionary","title":"Renal malrotation"},{"container-title":"HP:0004713","author":[{"family":"reversible renal failure"},{"family":"reversible kidney failure"},{"family":"Acute renal failure with resolution of 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basement membrane"},{"container-title":"HP:0004724","author":[{"family":"calcium kidney stone"},{"family":"The presence of calcium-containing calculi (stones) in the kidneys."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004724","type":"entry-dictionary","title":"Calcium nephrolithiasis"},{"container-title":"HP:0004727","author":[{"family":"urine concentration defect"},{"family":"urine concentrating defect"},{"family":"A defect in the ability to concentrate the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004727","type":"entry-dictionary","title":"Impaired renal concentrating ability"},{"container-title":"HP:0004729","author":[{"family":"Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004729","type":"entry-dictionary","title":"Acute tubulointerstitial nephritis"},{"container-title":"HP:0004732","author":[{"family":"A reduction in the ability of the kidneys to remove uric acid from the serum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004732","type":"entry-dictionary","title":"Impaired renal uric acid clearance"},{"container-title":"HP:0004734","author":[{"family":"multiple renal cortical microcysts"},{"family":"multiple small renal cortical cysts"},{"family":"Cysts of microscopic size confined to the cortex of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004734","type":"entry-dictionary","title":"Renal cortical microcysts"},{"container-title":"HP:0004736","author":[{"family":"ectopic kidney with fusion"},{"family":"A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004736","type":"entry-dictionary","title":"Crossed fused renal ectopia"},{"container-title":"HP:0004737","author":[{"family":"Complete and diffuse scarring of glomerulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004737","type":"entry-dictionary","title":"Global glomerulosclerosis"},{"container-title":"HP:0004742","author":[{"family":"abnormal collecting system"},{"family":"renal collecting system anomalies"},{"family":"An abnormality of the renal collecting system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004742","type":"entry-dictionary","title":"Abnormality of the renal collecting system"},{"container-title":"HP:0004743","author":[{"family":"Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004743","type":"entry-dictionary","title":"Chronic tubulointerstitial nephritis"},{"container-title":"HP:0004746","author":[{"family":"dense deposit disease"},{"family":"membranoproliferative glomerulonephritis type ii"},{"family":"Electron dense deposits at the glomerular basement membrane,"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004746","type":"entry-dictionary","title":"Glomerular subendothelial electron-dense deposits"},{"container-title":"HP:0004749","author":[{"family":"A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004749","type":"entry-dictionary","title":"Atrial flutter"},{"container-title":"HP:0004751","author":[{"family":"episodes of ventricular tachycardia"},{"family":"Episodes of ventricular tachycardia that have a sudden onset and ending."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004751","type":"entry-dictionary","title":"Paroxysmal ventricular tachycardia"},{"container-title":"HP:0004752","author":[{"family":"A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004752","type":"entry-dictionary","title":"Congenital atrioventricular dissociation"},{"container-title":"HP:0004754","author":[{"family":"chronic atrial fibrillation"},{"family":"AF that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004754","type":"entry-dictionary","title":"Permanent atrial fibrillation"},{"container-title":"HP:0004755","author":[{"family":"supraventricular tachyarrhythmia"},{"family":"svt"},{"family":"Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004755","type":"entry-dictionary","title":"Supraventricular tachycardia"},{"container-title":"HP:0004756","author":[{"family":"A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004756","type":"entry-dictionary","title":"Ventricular tachycardia"},{"container-title":"HP:0004757","author":[{"family":"atrial fibrillation, paroxysmal"},{"family":"Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004757","type":"entry-dictionary","title":"Paroxysmal atrial fibrillation"},{"container-title":"HP:0004758","author":[{"family":"Effort-induced polymorphic ventricular tachycardias"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004758","type":"entry-dictionary","title":"Effort-induced polymorphic ventricular tachycardias"},{"container-title":"HP:0004761","author":[{"family":"Post-angioplasty coronary artery restenosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004761","type":"entry-dictionary","title":"Post-angioplasty coronary artery restenosis"},{"container-title":"HP:0004762","author":[{"family":"underdeveloped right heart chamber"},{"family":"heart right ventricle hypoplasia"},{"family":"small right heart chamber"},{"family":"Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004762","type":"entry-dictionary","title":"Hypoplasia of right ventricle"},{"container-title":"HP:0004763","author":[{"family":"episodic rapid heart beat"},{"family":"episodic supraventricular tachycardia"},{"family":"An episodic form of supraventricular tachycardia with abrupt onset and termination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004763","type":"entry-dictionary","title":"Paroxysmal supraventricular tachycardia"},{"container-title":"HP:0004764","author":[{"family":"Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004764","type":"entry-dictionary","title":"Myxomatous mitral valve degeneration"},{"container-title":"HP:0004768","author":[{"family":"thin scalp hair at front of head"},{"family":"sparse scalp hair at front of head"},{"family":"Decreased number of head hairs per unit area on the anterior region of the scalp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004768","type":"entry-dictionary","title":"Sparse anterior scalp hair"},{"container-title":"HP:0004771","author":[{"family":"premature graying of body hair"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004771","type":"entry-dictionary","title":"Premature graying of body hair"},{"container-title":"HP:0004779","author":[{"family":"brittle scalp hair"},{"family":"Fragile, easily breakable scalp hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004779","type":"entry-dictionary","title":"Brittle scalp hair"},{"container-title":"HP:0004780","author":[{"family":"hairy elbow syndrome"},{"family":"hypertrichosis cubiti"},{"family":"Excessive, increased hair growth located in the elbow region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004780","type":"entry-dictionary","title":"Elbow hypertrichosis"},{"container-title":"HP:0004782","author":[{"family":"reduced\/lack of hair on scalp"},{"family":"scalp hypotrichosis"},{"family":"hypotrichosis on scalp"},{"family":"Reduced or lacking hair growth of the scalp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004782","type":"entry-dictionary","title":"Hypotrichosis of the scalp"},{"container-title":"HP:0004783","author":[{"family":"multiple duodenal polyps"},{"family":"Presence of multiple polyps in the duodenum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004783","type":"entry-dictionary","title":"Duodenal polyposis"},{"container-title":"HP:0004784","author":[{"family":"The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004784","type":"entry-dictionary","title":"Juvenile gastrointestinal polyposis"},{"container-title":"HP:0004785","author":[{"family":"An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004785","type":"entry-dictionary","title":"Malrotation of colon"},{"container-title":"HP:0004786","author":[{"family":"Jejunal diverticula"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004786","type":"entry-dictionary","title":"Jejunal diverticula"},{"container-title":"HP:0004787","author":[{"family":"Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004787","type":"entry-dictionary","title":"Fulminant hepatitis"},{"container-title":"HP:0004788","author":[{"family":"Fluid retention and edema in the intestine caused by a compromised lymphatic system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004788","type":"entry-dictionary","title":"Intestinal lymphedema"},{"container-title":"HP:0004789","author":[{"family":"milk intolerance"},{"family":"lactose intolerance"},{"family":"An inability to digest lactose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004789","type":"entry-dictionary","title":"Lactose intolerance"},{"container-title":"HP:0004790","author":[{"family":"underdeveloped small intestine"},{"family":"Underdevelopment of the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004790","type":"entry-dictionary","title":"Hypoplasia of the small intestine"},{"container-title":"HP:0004791","author":[{"family":"oesophagus ulceration"},{"family":"Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004791","type":"entry-dictionary","title":"Esophageal ulceration"},{"container-title":"HP:0004792","author":[{"family":"The presence of a fistula between the perineum and the rectum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004792","type":"entry-dictionary","title":"Rectoperineal fistula"},{"container-title":"HP:0004794","author":[{"family":"malrotation of the small intestine"},{"family":"A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004794","type":"entry-dictionary","title":"Malrotation of small bowel"},{"container-title":"HP:0004795","author":[{"family":"Polyp-like protrusions which are histologically hamartomas located in the stomach."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004795","type":"entry-dictionary","title":"Hamartomatous stomach polyps"},{"container-title":"HP:0004796","author":[{"family":"gastrointestinal obstruction"},{"family":"obstruction in digestive tract"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004796","type":"entry-dictionary","title":"Gastrointestinal obstruction"},{"container-title":"HP:0004797","author":[{"family":"The presence of multiple areas of atresia affecting the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004797","type":"entry-dictionary","title":"Multiple small bowel atresias"},{"container-title":"HP:0004798","author":[{"family":"gastrointestinal infections, recurrent"},{"family":"recurrent gastrointestinal infections"},{"family":"recurrent infection of the gastrointestinal tract"},{"family":"Recurrent infection of the gastrointestinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004798","type":"entry-dictionary","title":"Recurrent infection of the gastrointestinal tract"},{"container-title":"HP:0004799","author":[{"family":"Jejunoileal diverticula"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004799","type":"entry-dictionary","title":"Jejunoileal diverticula"},{"container-title":"HP:0004800","author":[{"family":"Duodenal diverticula"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004800","type":"entry-dictionary","title":"Duodenal diverticula"},{"container-title":"HP:0004802","author":[{"family":"episodic hemolysis"},{"family":"A form of hemolytic anemia that occurs in repeated episodes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004802","type":"entry-dictionary","title":"Episodic hemolytic anemia"},{"container-title":"HP:0004804","author":[{"family":"congenital haemolytic anemia"},{"family":"neonatal hemolytic anemia"},{"family":"A form of hemolytic anemia with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004804","type":"entry-dictionary","title":"Congenital hemolytic anemia"},{"container-title":"HP:0004808","author":[{"family":"acute myeloblastic leukemia"},{"family":"acute myelocytic leukemia"},{"family":"acute myelogenous leukemia"},{"family":"A form of leukemia characterized by overproduction of an early myeloid cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004808","type":"entry-dictionary","title":"Acute myeloid leukemia"},{"container-title":"HP:0004809","author":[{"family":"Low platelet count associated with maternal platelet-specific alloantibodies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004809","type":"entry-dictionary","title":"Neonatal alloimmune thrombocytopenia"},{"container-title":"HP:0004810","author":[{"family":"congenital dyserythropoietic anemia"},{"family":"A type of hypoplastic anemia with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004810","type":"entry-dictionary","title":"Congenital hypoplastic anemia"},{"container-title":"HP:0004812","author":[{"family":"Pre-B-cell acute lymphoblastic leukemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004812","type":"entry-dictionary","title":"Pre-B-cell acute lymphoblastic leukemia"},{"container-title":"HP:0004813","author":[{"family":"post-transfusion purpura"},{"family":"Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004813","type":"entry-dictionary","title":"Post-transfusion thrombocytopenia"},{"container-title":"HP:0004814","author":[{"family":"hemolytic anemia following ingestion of fava beans"},{"family":"A kind of hemolytic anemia that is induced by the ingestion of fava beans."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004814","type":"entry-dictionary","title":"Fava bean-induced hemolytic anemia"},{"container-title":"HP:0004817","author":[{"family":"A form of hemolytic anemia that is triggered by ingestion of certain drugs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004817","type":"entry-dictionary","title":"Drug-sensitive hemolytic anemia"},{"container-title":"HP:0004818","author":[{"family":"paroxysmal nocturnal haemoglobinuria"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004818","type":"entry-dictionary","title":"Paroxysmal nocturnal hemoglobinuria"},{"container-title":"HP:0004819","author":[{"family":"A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004819","type":"entry-dictionary","title":"Normocytic hypoplastic anemia"},{"container-title":"HP:0004820","author":[{"family":"An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004820","type":"entry-dictionary","title":"Acute myelomonocytic leukemia"},{"container-title":"HP:0004821","author":[{"family":"hypermature neutrophils"},{"family":"An excessive division of the lobes of the nucleus of a neutrophil."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004821","type":"entry-dictionary","title":"Hypersegmentation of neutrophil nuclei"},{"container-title":"HP:0004822","author":[{"family":"Atypical elliptocytosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004822","type":"entry-dictionary","title":"Atypical elliptocytosis"},{"container-title":"HP:0004823","author":[{"family":"A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004823","type":"entry-dictionary","title":"Anisopoikilocytosis"},{"container-title":"HP:0004825","author":[{"family":"increased haemoglobin oxygen affinity"},{"family":"An abnormal increase in the binding affinity of hemoglobin for oxygen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004825","type":"entry-dictionary","title":"Increased hemoglobin oxygen affinity"},{"container-title":"HP:0004826","author":[{"family":"A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004826","type":"entry-dictionary","title":"Folate-unresponsive megaloblastic anemia"},{"container-title":"HP:0004828","author":[{"family":"myelodysplasia with sideroblastosis"},{"family":"A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004828","type":"entry-dictionary","title":"Refractory anemia with ringed sideroblasts"},{"container-title":"HP:0004831","author":[{"family":"recurrent thromboembolic disease"},{"family":"Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004831","type":"entry-dictionary","title":"Recurrent thromboembolism"},{"container-title":"HP:0004835","author":[{"family":"The presence of erythrocytes that are sphere-shaped and reduced in size."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004835","type":"entry-dictionary","title":"Microspherocytosis"},{"container-title":"HP:0004836","author":[{"family":"A type of acute myeloid leukemia in which abnormal promyelocytes predominate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004836","type":"entry-dictionary","title":"Acute promyelocytic leukemia"},{"container-title":"HP:0004839","author":[{"family":"hereditary pyropoikilocytosis"},{"family":"A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004839","type":"entry-dictionary","title":"Pyropoikilocytosis"},{"container-title":"HP:0004840","author":[{"family":"hypochromic, microcytic anemia"},{"family":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004840","type":"entry-dictionary","title":"Hypochromic microcytic anemia"},{"container-title":"HP:0004841","author":[{"family":"factor xii deficiency"},{"family":"hageman factor deficiency"},{"family":"Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004841","type":"entry-dictionary","title":"Reduced factor XII activity"},{"container-title":"HP:0004844","author":[{"family":"direct coombs positive"},{"family":"A type of hemolytic anemia in which the Coombs test is positive."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004844","type":"entry-dictionary","title":"Coombs-positive hemolytic anemia"},{"container-title":"HP:0004845","author":[{"family":"aml"},{"family":"acute monoblastic leukemia"},{"family":"The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004845","type":"entry-dictionary","title":"Acute monocytic leukemia"},{"container-title":"HP:0004846","author":[{"family":"prolonged bleeding after surgery"},{"family":"excessive bleeding during surgery"},{"family":"protracted bleeding after surgery"},{"family":"Bleeding that persists longer than the normal time following a surgical procedure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004846","type":"entry-dictionary","title":"Prolonged bleeding after surgery"},{"container-title":"HP:0004848","author":[{"family":"philadelphia-positive acute lymphoblastic leukemia"},{"family":"A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004848","type":"entry-dictionary","title":"Ph-positive acute lymphoblastic leukemia"},{"container-title":"HP:0004850","author":[{"family":"recurrent venous thrombosis"},{"family":"recurrent deep vein blood clot"},{"family":"Repeated episodes of the formation of a blot clot in a deep vein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004850","type":"entry-dictionary","title":"Recurrent deep vein thrombosis"},{"container-title":"HP:0004851","author":[{"family":"A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004851","type":"entry-dictionary","title":"Folate-responsive megaloblastic anemia"},{"container-title":"HP:0004852","author":[{"family":"low leukocyte alkaline phosphatase"},{"family":"A decreased alkaline phosphatase activity measured within leukocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004852","type":"entry-dictionary","title":"Reduced leukocyte alkaline phosphatase"},{"container-title":"HP:0004854","author":[{"family":"Reduced platelet count that occurs sporadically, i.e., it comes and goes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004854","type":"entry-dictionary","title":"Intermittent thrombocytopenia"},{"container-title":"HP:0004855","author":[{"family":"protein s deficiency"},{"family":"An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004855","type":"entry-dictionary","title":"Reduced protein S activity"},{"container-title":"HP:0004856","author":[{"family":"A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004856","type":"entry-dictionary","title":"Normochromic microcytic anemia"},{"container-title":"HP:0004857","author":[{"family":"A type of anemia cahracterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004857","type":"entry-dictionary","title":"Hyperchromic macrocytic anemia"},{"container-title":"HP:0004859","author":[{"family":"Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004859","type":"entry-dictionary","title":"Amegakaryocytic thrombocytopenia"},{"container-title":"HP:0004860","author":[{"family":"A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004860","type":"entry-dictionary","title":"Thiamine-responsive megaloblastic anemia"},{"container-title":"HP:0004861","author":[{"family":"Refractory macrocytic anemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004861","type":"entry-dictionary","title":"Refractory macrocytic anemia"},{"container-title":"HP:0004863","author":[{"family":"Compensated hemolytic anemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004863","type":"entry-dictionary","title":"Compensated hemolytic anemia"},{"container-title":"HP:0004864","author":[{"family":"A type of sideroblastic anemia that is not responsive to treatment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004864","type":"entry-dictionary","title":"Refractory sideroblastic anemia"},{"container-title":"HP:0004866","author":[{"family":"Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004866","type":"entry-dictionary","title":"Impaired ADP-induced platelet aggregation"},{"container-title":"HP:0004870","author":[{"family":"hemolytic anemia, chronic"},{"family":"An chronic form of hemolytic anemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004870","type":"entry-dictionary","title":"Chronic hemolytic anemia"},{"container-title":"HP:0004871","author":[{"family":"The presence of a fistula between the bowel and the perineum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004871","type":"entry-dictionary","title":"Perineal fistula"},{"container-title":"HP:0004872","author":[{"family":"recurrent abdominal hernia"},{"family":"An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004872","type":"entry-dictionary","title":"Incisional hernia"},{"container-title":"HP:0004875","author":[{"family":"Neonatal inspiratory stridor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004875","type":"entry-dictionary","title":"Neonatal inspiratory stridor"},{"container-title":"HP:0004876","author":[{"family":"neonatal pneumothorax"},{"family":"Pneumothorax occurring neonatally without traumatic injury to the chest or lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004876","type":"entry-dictionary","title":"Spontaneous neonatal pneumothorax"},{"container-title":"HP:0004878","author":[{"family":"muscle weakness between ribs"},{"family":"Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004878","type":"entry-dictionary","title":"Intercostal muscle weakness"},{"container-title":"HP:0004879","author":[{"family":"intermittent overbreathing"},{"family":"episodic hyperventilation"},{"family":"Episodic hyperventilation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004879","type":"entry-dictionary","title":"Intermittent hyperventilation"},{"container-title":"HP:0004880","author":[{"family":"Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004880","type":"entry-dictionary","title":"Respiratory infections in early life"},{"container-title":"HP:0004881","author":[{"family":"episodic slow breathing"},{"family":"episodic under breathing"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004881","type":"entry-dictionary","title":"Episodic hypoventilation"},{"container-title":"HP:0004885","author":[{"family":"episodic difficulty breathing"},{"family":"respiratory distress, episodic"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004885","type":"entry-dictionary","title":"Episodic respiratory distress"},{"container-title":"HP:0004886","author":[{"family":"Congenital laryngeal stridor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004886","type":"entry-dictionary","title":"Congenital laryngeal stridor"},{"container-title":"HP:0004887","author":[{"family":"Respiratory failure requiring assisted ventilation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004887","type":"entry-dictionary","title":"Respiratory failure requiring assisted ventilation"},{"container-title":"HP:0004889","author":[{"family":"Intermittent episodes of respiratory insufficiency due to muscle weakness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004889","type":"entry-dictionary","title":"Intermittent episodes of respiratory insufficiency due to muscle weakness"},{"container-title":"HP:0004890","author":[{"family":"elevated lung artery pressure"},{"family":"increased pulmonary artery pressure"},{"family":"An abnormally elevated blood pressure in the circulation of the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004890","type":"entry-dictionary","title":"Elevated pulmonary artery pressure"},{"container-title":"HP:0004891","author":[{"family":"Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004891","type":"entry-dictionary","title":"Recurrent infections due to aspiration"},{"container-title":"HP:0004894","author":[{"family":"Laryngotracheal stenosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004894","type":"entry-dictionary","title":"Laryngotracheal stenosis"},{"container-title":"HP:0004897","author":[{"family":"A form of lactic acidemia that occurs in relation to stress or infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004897","type":"entry-dictionary","title":"Stress\/infection-induced lactic acidosis"},{"container-title":"HP:0004898","author":[{"family":"A continuous form of lactic acidemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004898","type":"entry-dictionary","title":"Persistent lactic acidosis"},{"container-title":"HP:0004900","author":[{"family":"A severe form of lactic acidemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004900","type":"entry-dictionary","title":"Severe lactic acidosis"},{"container-title":"HP:0004901","author":[{"family":"exercise-induced lactic acidosis"},{"family":"A form of lactic acidemia that occurs following exercise or exertion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004901","type":"entry-dictionary","title":"Exercise-induced lactic acidemia"},{"container-title":"HP:0004902","author":[{"family":"A form of lactic acidemia with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004902","type":"entry-dictionary","title":"Congenital lactic acidosis"},{"container-title":"HP:0004904","author":[{"family":"maturity onset diabetes of the young"},{"family":"mody"},{"family":"The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004904","type":"entry-dictionary","title":"Maturity-onset diabetes of the young"},{"container-title":"HP:0004905","author":[{"family":"Vitamin A deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004905","type":"entry-dictionary","title":"Vitamin A deficiency"},{"container-title":"HP:0004906","author":[{"family":"Hypernatremic dehydration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004906","type":"entry-dictionary","title":"Hypernatremic dehydration"},{"container-title":"HP:0004909","author":[{"family":"Hypokalemic hypochloremic metabolic alkalosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004909","type":"entry-dictionary","title":"Hypokalemic hypochloremic metabolic alkalosis"},{"container-title":"HP:0004910","author":[{"family":"renal bicarbonate wasting"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004910","type":"entry-dictionary","title":"Bicarbonate-wasting renal tubular acidosis"},{"container-title":"HP:0004911","author":[{"family":"recurrent episodes of acidosis"},{"family":"Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004911","type":"entry-dictionary","title":"Episodic metabolic acidosis"},{"container-title":"HP:0004912","author":[{"family":"Hypophosphatemic rickets"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004912","type":"entry-dictionary","title":"Hypophosphatemic rickets"},{"container-title":"HP:0004913","author":[{"family":"An intermittent (discontinuous) form of lactic acidemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004913","type":"entry-dictionary","title":"Intermittent lactic acidemia"},{"container-title":"HP:0004914","author":[{"family":"episodic infantile hypoglycemia"},{"family":"recurrent low blood sugar in infant"},{"family":"Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004914","type":"entry-dictionary","title":"Recurrent infantile hypoglycemia"},{"container-title":"HP:0004915","author":[{"family":"impaired galactose metabolism"},{"family":"An impairment of galactose metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004915","type":"entry-dictionary","title":"Impairment of galactose metabolism"},{"container-title":"HP:0004916","author":[{"family":"Generalized distal tubular acidosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004916","type":"entry-dictionary","title":"Generalized distal tubular acidosis"},{"container-title":"HP:0004918","author":[{"family":"Hyperchloremic metabolic acidosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004918","type":"entry-dictionary","title":"Hyperchloremic metabolic acidosis"},{"container-title":"HP:0004919","author":[{"family":"Galactose intolerance"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004919","type":"entry-dictionary","title":"Galactose intolerance"},{"container-title":"HP:0004920","author":[{"family":"Phenylpyruvic acidemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004920","type":"entry-dictionary","title":"Phenylpyruvic acidemia"},{"container-title":"HP:0004921","author":[{"family":"abnormal magnesium metabolism"},{"family":"An abnormality of magnesium ion homeostasis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004921","type":"entry-dictionary","title":"Abnormality of magnesium homeostasis"},{"container-title":"HP:0004922","author":[{"family":"Atypical hyperphenylalaninemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004922","type":"entry-dictionary","title":"Atypical hyperphenylalaninemia"},{"container-title":"HP:0004923","author":[{"family":"An increased concentration of L-phenylalanine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004923","type":"entry-dictionary","title":"Hyperphenylalaninemia"},{"container-title":"HP:0004924","author":[{"family":"abnormal glucose oral tolerance test"},{"family":"A type of Abnormal glucose tolerance observed following administration of an oral bolus of glucose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004924","type":"entry-dictionary","title":"Abnormal oral glucose tolerance"},{"container-title":"HP:0004925","author":[{"family":"A chronic form of lactic acidemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004925","type":"entry-dictionary","title":"Chronic lactic acidosis"},{"container-title":"HP:0004926","author":[{"family":"Orthostatic hypotension due to autonomic dysfunction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004926","type":"entry-dictionary","title":"Orthostatic hypotension due to autonomic dysfunction"},{"container-title":"HP:0004927","author":[{"family":"An abnormal widening of the diameter of the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004927","type":"entry-dictionary","title":"Pulmonary artery dilatation"},{"container-title":"HP:0004930","author":[{"family":"abnormality of the lung blood vessels"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004930","type":"entry-dictionary","title":"Abnormality of the pulmonary vasculature"},{"container-title":"HP:0004931","author":[{"family":"hardened artery wall in small cerebral arteries"},{"family":"Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004931","type":"entry-dictionary","title":"Arteriosclerosis of small cerebral arteries"},{"container-title":"HP:0004933","author":[{"family":"type a aortic dissection"},{"family":"A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004933","type":"entry-dictionary","title":"Ascending aortic dissection"},{"container-title":"HP:0004934","author":[{"family":"Abnormal calcification of the vasculature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004934","type":"entry-dictionary","title":"Vascular calcification"},{"container-title":"HP:0004935","author":[{"family":"pulmonary atresia"},{"family":"A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004935","type":"entry-dictionary","title":"Pulmonary artery atresia"},{"container-title":"HP:0004936","author":[{"family":"blood clot in vein"},{"family":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004936","type":"entry-dictionary","title":"Venous thrombosis"},{"container-title":"HP:0004937","author":[{"family":"An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004937","type":"entry-dictionary","title":"Pulmonary artery aneurysm"},{"container-title":"HP:0004938","author":[{"family":"twisted cerebral arteries"},{"family":"Excessive bending, twisting, and winding of a cerebral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004938","type":"entry-dictionary","title":"Tortuous cerebral arteries"},{"container-title":"HP:0004940","author":[{"family":"Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004940","type":"entry-dictionary","title":"Generalized arterial calcification"},{"container-title":"HP:0004941","author":[{"family":"Increased pressure in the pre-hepatic portal vein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004941","type":"entry-dictionary","title":"Extrahepatic portal hypertension"},{"container-title":"HP:0004942","author":[{"family":"aortic dilatation"},{"family":"Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004942","type":"entry-dictionary","title":"Aortic aneurysm"},{"container-title":"HP:0004943","author":[{"family":"accelerated plaque build-up in arteries"},{"family":"Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004943","type":"entry-dictionary","title":"Accelerated atherosclerosis"},{"container-title":"HP:0004944","author":[{"family":"brain aneurysm"},{"family":"intracranial aneurysm"},{"family":"cerebral aneurysm"},{"family":"cerebral artery aneurysm"},{"family":"The presence of a localized dilatation or ballooning of a cerebral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004944","type":"entry-dictionary","title":"Dilatation of the cerebral artery"},{"container-title":"HP:0004945","author":[{"family":"A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004945","type":"entry-dictionary","title":"Extracranial internal carotid artery dissection"},{"container-title":"HP:0004947","author":[{"family":"arteriovenous fistulas"},{"family":"An abnormal connection between an artery and vein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004947","type":"entry-dictionary","title":"Arteriovenous fistula"},{"container-title":"HP:0004948","author":[{"family":"twisted blood vessels"},{"family":"Abnormal twisting of arteries or veins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004948","type":"entry-dictionary","title":"Vascular tortuosity"},{"container-title":"HP:0004950","author":[{"family":"occlusive vascular disease"},{"family":"peripheral artery disease"},{"family":"occlusive arterial disease"},{"family":"peripheral artery occlusive disease"},{"family":"arterial disease of legs"},{"family":"peripheral vascular disease"},{"family":"Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004950","type":"entry-dictionary","title":"Peripheral arterial stenosis"},{"container-title":"HP:0004952","author":[{"family":"A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004952","type":"entry-dictionary","title":"Pulmonary arteriovenous fistulas"},{"container-title":"HP:0004955","author":[{"family":"arterial tortuosity, generalized"},{"family":"generalized twisted arteries"},{"family":"Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004955","type":"entry-dictionary","title":"Generalized arterial tortuosity"},{"container-title":"HP:0004959","author":[{"family":"dilatation of the descending thoracic aorta"},{"family":"An abnormal localized widening (dilatation) of the descending thoracic aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004959","type":"entry-dictionary","title":"Descending thoracic aorta aneurysm"},{"container-title":"HP:0004960","author":[{"family":"missing pulmonary artery"},{"family":"absent lung artery"},{"family":"A congenital defect with aplasia (absence) of one of the right or left pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004960","type":"entry-dictionary","title":"Absent pulmonary artery"},{"container-title":"HP:0004961","author":[{"family":"An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004961","type":"entry-dictionary","title":"Pulmonary artery sling"},{"container-title":"HP:0004962","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004962","type":"entry-dictionary","title":"Thoracic aorta calcification"},{"container-title":"HP:0004963","author":[{"family":"Calcification, that is, pathological deposition of calcium salts in the aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004963","type":"entry-dictionary","title":"Calcification of the aorta"},{"container-title":"HP:0004964","author":[{"family":"hypertrophy of the pulmonary artery wall"},{"family":"Increase in mass of the tunica media of the arteries in the pulmonary circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004964","type":"entry-dictionary","title":"Pulmonary arterial medial hypertrophy"},{"container-title":"HP:0004966","author":[{"family":"Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004966","type":"entry-dictionary","title":"Medial calcification of large arteries"},{"container-title":"HP:0004968","author":[{"family":"recurrent hemorrhagic stroke"},{"family":"Recurrent bleeding into the parenchyma of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004968","type":"entry-dictionary","title":"Recurrent cerebral hemorrhage"},{"container-title":"HP:0004969","author":[{"family":"peripheral pulmonic stenosis"},{"family":"narrowing of peripheral lung artery"},{"family":"peripheral pulmonary stenosis"},{"family":"Stenosis of a peripheral branch of the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004969","type":"entry-dictionary","title":"Peripheral pulmonary artery stenosis"},{"container-title":"HP:0004970","author":[{"family":"dilatation of ascending aorta"},{"family":"aneurysm of the ascending tubular aorta"},{"family":"ascending aortic aneurysm"},{"family":"ascending aortic dilation"},{"family":"ascending aorta dilation"},{"family":"An abnormal localized widening (dilatation) of the tubular part of the ascending aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004970","type":"entry-dictionary","title":"Ascending tubular aorta aneurysm"},{"container-title":"HP:0004971","author":[{"family":"underdeveloped lung artery"},{"family":"underdeveloped pulmonary artery"},{"family":"Underdevelopment of the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004971","type":"entry-dictionary","title":"Pulmonary artery hypoplasia"},{"container-title":"HP:0004972","author":[{"family":"An abnormal increase in the average blood pressure in an individual during a single cardiac cycle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004972","type":"entry-dictionary","title":"Elevated mean arterial pressure"},{"container-title":"HP:0004974","author":[{"family":"Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004974","type":"entry-dictionary","title":"Coarctation of abdominal aorta"},{"container-title":"HP:0004975","author":[{"family":"erlenmeyer flask shaped thighbone"},{"family":"erlenmeyer flask deformity of distal femur"},{"family":"erlenmeyer flask femora"},{"family":"Flaring of distal femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004975","type":"entry-dictionary","title":"Erlenmeyer flask deformity of the femurs"},{"container-title":"HP:0004976","author":[{"family":"dislocations of the knees"},{"family":"knee dislocations"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004976","type":"entry-dictionary","title":"Knee dislocation"},{"container-title":"HP:0004977","author":[{"family":"bilateral absence of radius"},{"family":"Missing radius bone on both sides associated with congenital failure of development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004977","type":"entry-dictionary","title":"Bilateral radial aplasia"},{"container-title":"HP:0004979","author":[{"family":"increased bone density in wide portion of long bone"},{"family":"sclerotic metaphyses"},{"family":"Abnormally increased density of metaphyseal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004979","type":"entry-dictionary","title":"Metaphyseal sclerosis"},{"container-title":"HP:0004980","author":[{"family":"rarefaction of the metaphyses"},{"family":"Reduction in density of metaphyseal bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004980","type":"entry-dictionary","title":"Metaphyseal rarefaction"},{"container-title":"HP:0004981","author":[{"family":"Prominent styloid process of ulna"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004981","type":"entry-dictionary","title":"Prominent styloid process of ulna"},{"container-title":"HP:0004987","author":[{"family":"mesomelic lower limb shortening"},{"family":"mesomelia of the lower limbs"},{"family":"Shortening of the middle parts of the leg in relation to the upper and terminal segments."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004987","type":"entry-dictionary","title":"Mesomelic leg shortening"},{"container-title":"HP:0004990","author":[{"family":"Epiphyseal streaking"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004990","type":"entry-dictionary","title":"Epiphyseal streaking"},{"container-title":"HP:0004991","author":[{"family":"Disproportionate shortening of the proximal segment of the arm (i.e. the humerus)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004991","type":"entry-dictionary","title":"Rhizomelic arm shortening"},{"container-title":"HP:0004993","author":[{"family":"slender long bones with narrow shaft"},{"family":"Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004993","type":"entry-dictionary","title":"Slender long bones with narrow diaphyses"},{"container-title":"HP:0004997","author":[{"family":"Multicentric ossification of proximal humeral epiphyses"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0004997","type":"entry-dictionary","title":"Multicentric ossification of proximal humeral epiphyses"},{"container-title":"HP:0005001","author":[{"family":"recurrent dislocation of patellas"},{"family":"Patellar dislocation occuring repeated times."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005001","type":"entry-dictionary","title":"Recurrent patellar dislocation"},{"container-title":"HP:0005003","author":[{"family":"absent\/small end part of innermost thighbone"},{"family":"absent\/underdeveloped end part of innermost thighbone"},{"family":"Absence or underdevelopment of the proximal epiphysis of the femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005003","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the capital femoral epiphysis"},{"container-title":"HP:0005004","author":[{"family":"An abnormally flat form of the proximal epiphysis of the radius."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005004","type":"entry-dictionary","title":"Flattened proximal radial epiphyses"},{"container-title":"HP:0005005","author":[{"family":"bowing of thighbone at birth, straightening with time"},{"family":"Congenital onset bending or abnormal curvature of the femur that normalizes with age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005005","type":"entry-dictionary","title":"Femoral bowing present at birth, straightening with time"},{"container-title":"HP:0005008","author":[{"family":"large joint dislocations"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005008","type":"entry-dictionary","title":"Large joint dislocations"},{"container-title":"HP:0005009","author":[{"family":"dumbbell-shaped long bone in upper arm"},{"family":"The humerus is shortened and displays flaring (widening) of the metaphyses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005009","type":"entry-dictionary","title":"Dumbbell-shaped humerus"},{"container-title":"HP:0005010","author":[{"family":"Osteomyelitis leading to amputation due to slow healing fractures"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005010","type":"entry-dictionary","title":"Osteomyelitis leading to amputation due to slow healing fractures"},{"container-title":"HP:0005011","author":[{"family":"upper limb brachymesomelia"},{"family":"mesomelia of the upper limbs"},{"family":"Shortening of the middle parts of the arm in relation to the upper and terminal segments."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005011","type":"entry-dictionary","title":"Mesomelic arm shortening"},{"container-title":"HP:0005013","author":[{"family":"Abnormally developed (dysplastic) distal epiphysis of the radius."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005013","type":"entry-dictionary","title":"Dysplastic distal radial epiphyses"},{"container-title":"HP:0005017","author":[{"family":"Polyarticular chondrocalcinosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005017","type":"entry-dictionary","title":"Polyarticular chondrocalcinosis"},{"container-title":"HP:0005019","author":[{"family":"Diaphyseal thickening"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005019","type":"entry-dictionary","title":"Diaphyseal thickening"},{"container-title":"HP:0005021","author":[{"family":"dislocated elbows on both sides"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005021","type":"entry-dictionary","title":"Bilateral elbow dislocations"},{"container-title":"HP:0005025","author":[{"family":"Underdevelopment of the distal portion of the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005025","type":"entry-dictionary","title":"Hypoplastic distal humeri"},{"container-title":"HP:0005026","author":[{"family":"Mesomelic\/rhizomelic limb shortening"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005026","type":"entry-dictionary","title":"Mesomelic\/rhizomelic limb shortening"},{"container-title":"HP:0005028","author":[{"family":"wide innermost wide portion of shinbone bone"},{"family":"wide innermost wide portion of shankbone bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005028","type":"entry-dictionary","title":"Widened proximal tibial metaphyses"},{"container-title":"HP:0005033","author":[{"family":"hypoplastic distal ulna"},{"family":"distal shortening of ulna"},{"family":"Underdevelopment of the distal portion of the ulna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005033","type":"entry-dictionary","title":"Distal ulnar hypoplasia"},{"container-title":"HP:0005035","author":[{"family":"short toe bones"},{"family":"Developmental hypoplasia (shortening) of all phalanges of the foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005035","type":"entry-dictionary","title":"Shortening of all phalanges of the toes"},{"container-title":"HP:0005036","author":[{"family":"Underdevelopment of the ulna on only one side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005036","type":"entry-dictionary","title":"Unilateral ulnar hypoplasia"},{"container-title":"HP:0005037","author":[{"family":"An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005037","type":"entry-dictionary","title":"Proximal radio-ulnar synostosis"},{"container-title":"HP:0005039","author":[{"family":"multiple exostoses of long tubular bones"},{"family":"Multiple exostoses originating in long bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005039","type":"entry-dictionary","title":"Multiple long-bone exostoses"},{"container-title":"HP:0005041","author":[{"family":"irregular capital femoral epiphyses"},{"family":"irregular end part of innermost thighbone"},{"family":"irregular proximal femoral epiphyses"},{"family":"Irregular surface of the normally relatively smooth capital femoral epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005041","type":"entry-dictionary","title":"Irregular capital femoral epiphysis"},{"container-title":"HP:0005042","author":[{"family":"Irregular, rachitic-like metaphyses"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005042","type":"entry-dictionary","title":"Irregular, rachitic-like metaphyses"},{"container-title":"HP:0005043","author":[{"family":"irregular proximal humeral metaphyses"},{"family":"Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005043","type":"entry-dictionary","title":"Proximal humeral metaphyseal irregularity"},{"container-title":"HP:0005045","author":[{"family":"An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005045","type":"entry-dictionary","title":"Diaphyseal cortical sclerosis"},{"container-title":"HP:0005048","author":[{"family":"fusion of wrist bones"},{"family":"fusion of carpal bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005048","type":"entry-dictionary","title":"Synostosis of carpal bones"},{"container-title":"HP:0005050","author":[{"family":"anterior\/lateral radial head dislocation"},{"family":"A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005050","type":"entry-dictionary","title":"Anterolateral radial head dislocation"},{"container-title":"HP:0005054","author":[{"family":"Bony outgrowths that extend laterally from the margin of the metaphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005054","type":"entry-dictionary","title":"Metaphyseal spurs"},{"container-title":"HP:0005059","author":[{"family":"joint pain\/joint inflammation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005059","type":"entry-dictionary","title":"Arthralgia\/arthritis"},{"container-title":"HP:0005060","author":[{"family":"Limited elbow flexion\/extension"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005060","type":"entry-dictionary","title":"Limited elbow flexion\/extension"},{"container-title":"HP:0005063","author":[{"family":"fragmented, irregular end part of bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005063","type":"entry-dictionary","title":"Fragmented, irregular epiphyses"},{"container-title":"HP:0005066","author":[{"family":"cone-shaped end part of long bone fused within their wide portion of wide bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005066","type":"entry-dictionary","title":"Cone-shaped epiphyses fused within their metaphyses"},{"container-title":"HP:0005067","author":[{"family":"overgrowth of innermost part of calf bone"},{"family":"Overgrowth of the proximal part of the fibula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005067","type":"entry-dictionary","title":"Proximal fibular overgrowth"},{"container-title":"HP:0005068","author":[{"family":"Absent styloid process of ulna"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005068","type":"entry-dictionary","title":"Absent styloid process of ulna"},{"container-title":"HP:0005069","author":[{"family":"Rhizo-meso-acromelic limb shortening"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005069","type":"entry-dictionary","title":"Rhizo-meso-acromelic limb shortening"},{"container-title":"HP:0005070","author":[{"family":"A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005070","type":"entry-dictionary","title":"Proximal radial head dislocation"},{"container-title":"HP:0005072","author":[{"family":"increased wrist mobility"},{"family":"increased laxity of wrists"},{"family":"The ability of the wrist joints to move beyond their normal range of motion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005072","type":"entry-dictionary","title":"Hyperextensibility at wrists"},{"container-title":"HP:0005084","author":[{"family":"anterior dislocation of radial head"},{"family":"A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005084","type":"entry-dictionary","title":"Anterior radial head dislocation"},{"container-title":"HP:0005085","author":[{"family":"A limited ability of the knee joint extension and flexion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005085","type":"entry-dictionary","title":"Limited knee flexion\/extension"},{"container-title":"HP:0005086","author":[{"family":"Knee 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sclerosis"},{"container-title":"HP:0005093","author":[{"family":"Absence of the proximal radial epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005093","type":"entry-dictionary","title":"Absent proximal radial epiphyses"},{"container-title":"HP:0005096","author":[{"family":"A bending or abnormal curvature of the distal portion of the femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005096","type":"entry-dictionary","title":"Distal femoral bowing"},{"container-title":"HP:0005099","author":[{"family":"severe hydrops"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005099","type":"entry-dictionary","title":"Severe hydrops fetalis"},{"container-title":"HP:0005100","author":[{"family":"Premature birth following premature rupture of fetal membranes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005100","type":"entry-dictionary","title":"Premature birth following premature rupture of fetal membranes"},{"container-title":"HP:0005101","author":[{"family":"hearing loss, high-frequency"},{"family":"progressive high frequency hearing loss"},{"family":"progressive high-frequency hearing loss"},{"family":"high-frequency deafness"},{"family":"A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005101","type":"entry-dictionary","title":"High-frequency hearing impairment"},{"container-title":"HP:0005102","author":[{"family":"progressive cochlear degeneration"},{"family":"Deterioration or loss of the tissues of the cochlea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005102","type":"entry-dictionary","title":"Cochlear degeneration"},{"container-title":"HP:0005103","author":[{"family":"ear cartilage calcification"},{"family":"cartilaginous ossification of pinnae"},{"family":"petrified ear"},{"family":"Ossification affecting the external ear cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005103","type":"entry-dictionary","title":"Calcification of the auricular cartilage"},{"container-title":"HP:0005104","author":[{"family":"decreased size of septum of nose"},{"family":"hypoplasia of septum of nose"},{"family":"decreased size of nasal septum"},{"family":"small septum of nose"},{"family":"small nasal septum"},{"family":"Underdevelopment of the nasal septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005104","type":"entry-dictionary","title":"Hypoplastic nasal septum"},{"container-title":"HP:0005105","author":[{"family":"abnormal nose morphology"},{"family":"abnormal of nasal shape"},{"family":"abnormal of shape of nose"},{"family":"abnormal of morphology of nose"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005105","type":"entry-dictionary","title":"Abnormal nasal morphology"},{"container-title":"HP:0005106","author":[{"family":"Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005106","type":"entry-dictionary","title":"Abnormality of the vertebral endplates"},{"container-title":"HP:0005107","author":[{"family":"An abnormality of the sacral bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005107","type":"entry-dictionary","title":"Abnormality of the sacrum"},{"container-title":"HP:0005108","author":[{"family":"An abnormality of the intervertebral disk."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005108","type":"entry-dictionary","title":"Abnormality of the intervertebral disk"},{"container-title":"HP:0005109","author":[{"family":"abnormality of the calcaneal tendon"},{"family":"abnormality of the achilles tendon"},{"family":"An abnormality of the Achilles tendon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005109","type":"entry-dictionary","title":"Abnormality of the Achilles tendon"},{"container-title":"HP:0005110","author":[{"family":"An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005110","type":"entry-dictionary","title":"Atrial fibrillation"},{"container-title":"HP:0005112","author":[{"family":"dilatation of the abdominal aorta"},{"family":"An abnormal localized widening (dilatation) of the abdominal aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005112","type":"entry-dictionary","title":"Abdominal aortic aneurysm"},{"container-title":"HP:0005113","author":[{"family":"dilatation of the aortic arch"},{"family":"aortic arch dilatation"},{"family":"An abnormal localized widening (dilatation) of the aortic arch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005113","type":"entry-dictionary","title":"Aortic arch aneurysm"},{"container-title":"HP:0005115","author":[{"family":"arrhythmias, supraventricular"},{"family":"A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005115","type":"entry-dictionary","title":"Supraventricular arrhythmia"},{"container-title":"HP:0005116","author":[{"family":"Abnormal tortuous (i.e., twisted) form of arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005116","type":"entry-dictionary","title":"Arterial tortuosity"},{"container-title":"HP:0005117","author":[{"family":"Abnormal increase in diastolic blood pressure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005117","type":"entry-dictionary","title":"Elevated diastolic blood pressure"},{"container-title":"HP:0005120","author":[{"family":"abnormality of heart atrium"},{"family":"abnormality of cardiac atrium morphology"},{"family":"Any structural abnormality of a cardiac atrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005120","type":"entry-dictionary","title":"Abnormal cardiac atrium morphology"},{"container-title":"HP:0005121","author":[{"family":"posterior vertebral body scalloping"},{"family":"An excessive concavity of the posterior surface of one or more vertebral bodies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005121","type":"entry-dictionary","title":"Posterior scalloping of vertebral bodies"},{"container-title":"HP:0005129","author":[{"family":"Congenital hypertrophy of left ventricle"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005129","type":"entry-dictionary","title":"Congenital hypertrophy of left ventricle"},{"container-title":"HP:0005130","author":[{"family":"Restrictive heart failure"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005130","type":"entry-dictionary","title":"Restrictive heart failure"},{"container-title":"HP:0005132","author":[{"family":"Compression of the heart caused by rigid, thickened, or fused pericardial membranes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005132","type":"entry-dictionary","title":"Pericardial constriction"},{"container-title":"HP:0005133","author":[{"family":"dilated heart right ventricle"},{"family":"Enlargement of the chamber of the right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005133","type":"entry-dictionary","title":"Right ventricular dilatation"},{"container-title":"HP:0005134","author":[{"family":"absent pulmonary valve"},{"family":"Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005134","type":"entry-dictionary","title":"Absence of the pulmonary valve"},{"container-title":"HP:0005135","author":[{"family":"ekg: t-wave abnormalities"},{"family":"An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005135","type":"entry-dictionary","title":"Abnormal T-wave"},{"container-title":"HP:0005136","author":[{"family":"premature calcification of mitral annulus"},{"family":"Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005136","type":"entry-dictionary","title":"Mitral annular calcification"},{"container-title":"HP:0005143","author":[{"family":"The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005143","type":"entry-dictionary","title":"Anomalous origin of right pulmonary artery from ascending aorta"},{"container-title":"HP:0005144","author":[{"family":"The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005144","type":"entry-dictionary","title":"Left ventricular septal hypertrophy"},{"container-title":"HP:0005145","author":[{"family":"narrowing of coronary artery"},{"family":"Abnormal narrowing of the coronary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005145","type":"entry-dictionary","title":"Coronary artery stenosis"},{"container-title":"HP:0005146","author":[{"family":"calcifications of the cardiac valves"},{"family":"Abnormal calcification of a cardiac valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005146","type":"entry-dictionary","title":"Cardiac valve calcification"},{"container-title":"HP:0005147","author":[{"family":"Bidirectional ventricular ectopy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005147","type":"entry-dictionary","title":"Bidirectional ventricular ectopy"},{"container-title":"HP:0005148","author":[{"family":"Any defect in the valve connecting the heart and the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005148","type":"entry-dictionary","title":"Pulmonary valve defects"},{"container-title":"HP:0005150","author":[{"family":"An impairment of the electrical continuity between the atria and ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005150","type":"entry-dictionary","title":"Abnormal atrioventricular conduction"},{"container-title":"HP:0005151","author":[{"family":"proximal aortic coarctation"},{"family":"Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005151","type":"entry-dictionary","title":"Preductal coarctation of the aorta"},{"container-title":"HP:0005152","author":[{"family":"foamy myocardial transformation"},{"family":"arachnocytosis of the myocardium"},{"family":"focal lipid cardiomyopathy"},{"family":"oncocytic cardiomyopathy"},{"family":"myocardial or conduction system hamartoma"},{"family":"infantile xanthomatous cardiomyopathy"},{"family":"infantile cardiomyopathy with histiocytoid changes"},{"family":"isolated cardiac lipidosis"},{"family":"A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005152","type":"entry-dictionary","title":"Histiocytoid cardiomyopathy"},{"container-title":"HP:0005155","author":[{"family":"idioventricular escape rhythm"},{"family":"A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes are broad (at least 120 ms)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005155","type":"entry-dictionary","title":"Ventricular escape rhythm"},{"container-title":"HP:0005156","author":[{"family":"left atrium hypoplasia"},{"family":"underdeveloped left heart atrium"},{"family":"Underdeveloped, small left heart atrium"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005156","type":"entry-dictionary","title":"Hypoplastic left atrium"},{"container-title":"HP:0005157","author":[{"family":"symmetric, concentric, hypertrophic cardiomyopathy"},{"family":"Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005157","type":"entry-dictionary","title":"Concentric hypertrophic cardiomyopathy"},{"container-title":"HP:0005160","author":[{"family":"total anomalous pulmonary venous connection"},{"family":"total anomalous pulmonary venous drainage"},{"family":"Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005160","type":"entry-dictionary","title":"Total anomalous pulmonary venous return"},{"container-title":"HP:0005162","author":[{"family":"left ventricular impairment"},{"family":"impaired left ventricular function"},{"family":"left-sided heart failure"},{"family":"Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the left ventricule is loses its ability to relax completely and cannot fill with blood during rest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005162","type":"entry-dictionary","title":"Left ventricular failure"},{"container-title":"HP:0005164","author":[{"family":"A congenital malformation of the pulmonary valve characterized by leaflet deformation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005164","type":"entry-dictionary","title":"Dysplastic pulmonary valve"},{"container-title":"HP:0005165","author":[{"family":"shortened pr interval on ekg"},{"family":"electrocardiographic short pr interval"},{"family":"short p-r interval"},{"family":"Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005165","type":"entry-dictionary","title":"Shortened PR interval"},{"container-title":"HP:0005168","author":[{"family":"An abnormal increase in magnitude of the pressure in the right atrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005168","type":"entry-dictionary","title":"Elevated right atrial pressure"},{"container-title":"HP:0005170","author":[{"family":"A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005170","type":"entry-dictionary","title":"Complete heart block with broad QRS complexes"},{"container-title":"HP:0005172","author":[{"family":"left posterior hemiblock"},{"family":"Conduction block in the posterior division of the left bundle branch of the bundle of His."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005172","type":"entry-dictionary","title":"Left posterior fascicular block"},{"container-title":"HP:0005174","author":[{"family":"Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005174","type":"entry-dictionary","title":"Membranous subvalvular aortic stenosis"},{"container-title":"HP:0005176","author":[{"family":"A congenital malformation of the aortic valve characterized by leaflet deformation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005176","type":"entry-dictionary","title":"Dysplastic aortic valve"},{"container-title":"HP:0005177","author":[{"family":"premature hardening of arteries"},{"family":"Arteriosclerosis occuring at an age that is younger than usual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005177","type":"entry-dictionary","title":"Premature arteriosclerosis"},{"container-title":"HP:0005178","author":[{"family":"A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005178","type":"entry-dictionary","title":"Complete heart block with narrow QRS complexes"},{"container-title":"HP:0005180","author":[{"family":"tricuspid insufficiency"},{"family":"tricuspid valve regurgitation"},{"family":"Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005180","type":"entry-dictionary","title":"Tricuspid regurgitation"},{"container-title":"HP:0005181","author":[{"family":"premature coronary artery disease"},{"family":"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005181","type":"entry-dictionary","title":"Premature coronary artery atherosclerosis"},{"container-title":"HP:0005182","author":[{"family":"The presence of a bicuspid pulmonary valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005182","type":"entry-dictionary","title":"Bicuspid pulmonary valve"},{"container-title":"HP:0005183","author":[{"family":"An abnormal dilatation of lymph vessels in the pericardium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005183","type":"entry-dictionary","title":"Pericardial lymphangiectasia"},{"container-title":"HP:0005184","author":[{"family":"A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005184","type":"entry-dictionary","title":"Prolonged QTc interval"},{"container-title":"HP:0005185","author":[{"family":"A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005185","type":"entry-dictionary","title":"Global systolic dysfunction"},{"container-title":"HP:0005186","author":[{"family":"Synovial hypertrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005186","type":"entry-dictionary","title":"Synovial hypertrophy"},{"container-title":"HP:0005187","author":[{"family":"Progressive joint destruction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005187","type":"entry-dictionary","title":"Progressive joint destruction"},{"container-title":"HP:0005190","author":[{"family":"Proximal finger joint hyperextensibility"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005190","type":"entry-dictionary","title":"Proximal finger joint hyperextensibility"},{"container-title":"HP:0005191","author":[{"family":"dislocated knee since birth"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005191","type":"entry-dictionary","title":"Congenital knee dislocation"},{"container-title":"HP:0005193","author":[{"family":"Restricted large joint movement"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005193","type":"entry-dictionary","title":"Restricted large joint movement"},{"container-title":"HP:0005194","author":[{"family":"flattened head of long bone of foot"},{"family":"Abnormally flat shape of the heads of the metatarsal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005194","type":"entry-dictionary","title":"Flattened metatarsal heads"},{"container-title":"HP:0005195","author":[{"family":"Polyarticular arthropathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005195","type":"entry-dictionary","title":"Polyarticular arthropathy"},{"container-title":"HP:0005197","author":[{"family":"A sensation of stiffness in the joints that occurs following waking up in the morning."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005197","type":"entry-dictionary","title":"Generalized morning stiffness"},{"container-title":"HP:0005198","author":[{"family":"stiff hinge joints"},{"family":"Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005198","type":"entry-dictionary","title":"Stiff interphalangeal joints"},{"container-title":"HP:0005199","author":[{"family":"absent abdominal musculature"},{"family":"Absence of the abdominal musculature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005199","type":"entry-dictionary","title":"Aplasia of the abdominal wall musculature"},{"container-title":"HP:0005200","author":[{"family":"Retroperitoneal fibrosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005200","type":"entry-dictionary","title":"Retroperitoneal fibrosis"},{"container-title":"HP:0005201","author":[{"family":"Anomalous splenoportal venous system"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005201","type":"entry-dictionary","title":"Anomalous splenoportal venous system"},{"container-title":"HP:0005202","author":[{"family":"A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005202","type":"entry-dictionary","title":"Helicobacter pylori infection"},{"container-title":"HP:0005203","author":[{"family":"boerhaave syndrome"},{"family":"spontaneous esophageal rupture"},{"family":"The occurrence of the full-thickness tear (perforation) of the wall of the esophagus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005203","type":"entry-dictionary","title":"Spontaneous esophageal perforation"},{"container-title":"HP:0005206","author":[{"family":"Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005206","type":"entry-dictionary","title":"Pancreatic pseudocyst"},{"container-title":"HP:0005207","author":[{"family":"increased stomach size"},{"family":"Hypertrophy of the stomach."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005207","type":"entry-dictionary","title":"Gastric hypertrophy"},{"container-title":"HP:0005208","author":[{"family":"Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005208","type":"entry-dictionary","title":"Secretory diarrhea"},{"container-title":"HP:0005209","author":[{"family":"The presence of cyst of the intrahepatic bile duct."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005209","type":"entry-dictionary","title":"Intrahepatic bile duct cysts"},{"container-title":"HP:0005210","author":[{"family":"underdeveloped colon"},{"family":"hypoplasia of the colon"},{"family":"Underdevelopment of the colon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005210","type":"entry-dictionary","title":"Hypoplastic colon"},{"container-title":"HP:0005211","author":[{"family":"Midgut malrotation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005211","type":"entry-dictionary","title":"Midgut malrotation"},{"container-title":"HP:0005212","author":[{"family":"Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005212","type":"entry-dictionary","title":"Anal mucosal leukoplakia"},{"container-title":"HP:0005213","author":[{"family":"pancreatic calcifications"},{"family":"The presence of abnormal calcium deposition lesions in the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005213","type":"entry-dictionary","title":"Pancreatic calcification"},{"container-title":"HP:0005214","author":[{"family":"intestinal obstruction"},{"family":"bowel obstruction"},{"family":"intestinal blockage"},{"family":"Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005214","type":"entry-dictionary","title":"Intestinal obstruction"},{"container-title":"HP:0005215","author":[{"family":"Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005215","type":"entry-dictionary","title":"Frequent Giardia lamblia infestation"},{"container-title":"HP:0005216","author":[{"family":"Chewing difficulties"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005216","type":"entry-dictionary","title":"Chewing difficulties"},{"container-title":"HP:0005217","author":[{"family":"Duplication of internal organs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005217","type":"entry-dictionary","title":"Duplication of internal organs"},{"container-title":"HP:0005218","author":[{"family":"The presence of a fistula (abnormal tunnel) between the anal canal and the perineum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005218","type":"entry-dictionary","title":"Anoperineal fistula"},{"container-title":"HP:0005219","author":[{"family":"intrinsic factor absent from gastric juice"},{"family":"Absence of gastric intrinsic factor, which is normally produced by the 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obstruction of blood flow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005305","type":"entry-dictionary","title":"Cerebral venous thrombosis"},{"container-title":"HP:0005306","author":[{"family":"capillary hemangioma"},{"family":"The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005306","type":"entry-dictionary","title":"Capillary hemangiomas"},{"container-title":"HP:0005307","author":[{"family":"Postural hypotension with compensatory tachycardia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005307","type":"entry-dictionary","title":"Postural hypotension with compensatory tachycardia"},{"container-title":"HP:0005308","author":[{"family":"Pulmonary artery vasoconstriction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005308","type":"entry-dictionary","title":"Pulmonary artery vasoconstriction"},{"container-title":"HP:0005310","author":[{"family":"A type of vasculitis (inflammation of 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and proteoglycans in the medial layer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005313","type":"entry-dictionary","title":"Arterial fibromuscular dysplasia"},{"container-title":"HP:0005314","author":[{"family":"Anomalous branches of internal carotid artery"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005314","type":"entry-dictionary","title":"Anomalous branches of internal carotid artery"},{"container-title":"HP:0005316","author":[{"family":"Peripheral pulmonary vessel aplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005316","type":"entry-dictionary","title":"Peripheral pulmonary vessel aplasia"},{"container-title":"HP:0005317","author":[{"family":"Increased pulmonary vascular resistance"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005317","type":"entry-dictionary","title":"Increased pulmonary vascular resistance"},{"container-title":"HP:0005318","author":[{"family":"Inflammation of the blood vessels within the 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This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005321","type":"entry-dictionary","title":"Mandibulofacial dysostosis"},{"container-title":"HP:0005322","author":[{"family":"prominent nasal septum"},{"family":"visible septum of nose"},{"family":"visible nasal septum"},{"family":"low hanging septum of nose"},{"family":"prominent septum of nose"},{"family":"low hanging nasal septum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005322","type":"entry-dictionary","title":"Prominent nasal septum"},{"container-title":"HP:0005323","author":[{"family":"increase in size of half of face"},{"family":"facial hemihyperplasia"},{"family":"facial hemihypertophy"},{"family":"hemifacial enlargement"},{"family":"friedreich's disease"},{"family":"enlargement of half of face"},{"family":"overgrowth of half of face"},{"family":"hypertrophy of half of face"},{"family":"Unilateral overgrowth of facial tissues, including muscles, bones and skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005323","type":"entry-dictionary","title":"Hemifacial hypertrophy"},{"container-title":"HP:0005324","author":[{"family":"disturbance of facial expression"},{"family":"An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005324","type":"entry-dictionary","title":"Disturbance of facial expression"},{"container-title":"HP:0005325","author":[{"family":"unusual hairline with hair growth on temples extending to lateral eyebrow"},{"family":"A pattern of hair growth in which there is hair exnteding from the temples to the lateral eyebrows."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005325","type":"entry-dictionary","title":"Extension of hair growth on temples to lateral eyebrow"},{"container-title":"HP:0005326","author":[{"family":"small philtrum"},{"family":"Underdevelopment of the philtrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005326","type":"entry-dictionary","title":"Hypoplastic philtrum"},{"container-title":"HP:0005327","author":[{"family":"loss of facial expression"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005327","type":"entry-dictionary","title":"Loss of facial expression"},{"container-title":"HP:0005328","author":[{"family":"prematurely aged face"},{"family":"wizened face"},{"family":"prematurely aged facial appearance"},{"family":"A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005328","type":"entry-dictionary","title":"Progeroid facial appearance"},{"container-title":"HP:0005329","author":[{"family":"fixed facial expression"},{"family":"unchanging facial 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vena cava morphology"},{"container-title":"HP:0005346","author":[{"family":"abnormal facial expression"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005346","type":"entry-dictionary","title":"Abnormal facial expression"},{"container-title":"HP:0005347","author":[{"family":"Cartilaginous trachea"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005347","type":"entry-dictionary","title":"Cartilaginous trachea"},{"container-title":"HP:0005348","author":[{"family":"Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005348","type":"entry-dictionary","title":"Inspiratory stridor"},{"container-title":"HP:0005349","author":[{"family":"hypoplastic epiglottis"},{"family":"Hypoplasia of the epiglottis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005349","type":"entry-dictionary","title":"Hypoplasia of the epiglottis"},{"container-title":"HP:0005352","author":[{"family":"severe 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This feature may be appreciated by the lack of a thymic shadow upon radiographic examination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005359","type":"entry-dictionary","title":"Aplasia of the thymus"},{"container-title":"HP:0005360","author":[{"family":"Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005360","type":"entry-dictionary","title":"Susceptibility to chickenpox"},{"container-title":"HP:0005363","author":[{"family":"A general term referring to a defect in immunity resulting from impaired antibody production."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005363","type":"entry-dictionary","title":"Humoral immunodeficiency"},{"container-title":"HP:0005364","author":[{"family":"Severe viral infections"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005364","type":"entry-dictionary","title":"Severe viral infections"},{"container-title":"HP:0005365","author":[{"family":"absence of b cells"},{"family":"absent b cells"},{"family":"A severe form of B lymphocytopenia in which the count of B cells is very low or absent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005365","type":"entry-dictionary","title":"Severe B lymphocytopenia"},{"container-title":"HP:0005366","author":[{"family":"Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005366","type":"entry-dictionary","title":"Recurrent streptococcus pneumoniae infections"},{"container-title":"HP:0005368","author":[{"family":"defective humoral immunity"},{"family":"An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005368","type":"entry-dictionary","title":"Abnormality of humoral immunity"},{"container-title":"HP:0005369","author":[{"family":"A reduced level of the complement component Factor H in circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005369","type":"entry-dictionary","title":"Decreased serum complement factor H"},{"container-title":"HP:0005372","author":[{"family":"reduced b cell function"},{"family":"abnormality of b cell physiology"},{"family":"An abnormality of the physiological functioning of B cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005372","type":"entry-dictionary","title":"Abnormality of B cell physiology"},{"container-title":"HP:0005374","author":[{"family":"An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005374","type":"entry-dictionary","title":"Cellular immunodeficiency"},{"container-title":"HP:0005376","author":[{"family":"Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus 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number"},{"family":"An abnormal increase from the normal count of B cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005404","type":"entry-dictionary","title":"Increase in B cell count"},{"container-title":"HP:0005406","author":[{"family":"recurrent cutaneous pyogenic infections"},{"family":"recurrent pyogenic skin infections"},{"family":"recurrent episodes of impetigo"},{"family":"recurrent bacterial skin infections"},{"family":"recurrent episodes of infectious dermatitis"},{"family":"Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005406","type":"entry-dictionary","title":"Recurrent bacterial skin infections"},{"container-title":"HP:0005407","author":[{"family":"cd4+ t-cell lymphopenia"},{"family":"cd4 t cell lymphopenia"},{"family":"abnormality of cd4+ t cells"},{"family":"A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005407","type":"entry-dictionary","title":"Decreased proportion of CD4-positive T cells"},{"container-title":"HP:0005411","author":[{"family":"candida overgrowth syndrome"},{"family":"Persistent overgrowth of Candida albicans in the gastrointestinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005411","type":"entry-dictionary","title":"Chronic intestinal candidiasis"},{"container-title":"HP:0005413","author":[{"family":"An abnormally increased level of circulationg alpha-globulin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005413","type":"entry-dictionary","title":"Increased alpha-globulin"},{"container-title":"HP:0005415","author":[{"family":"decreased proportion of cd8+ t cells"},{"family":"cd8+ t-cell lymphopenia"},{"family":"A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005415","type":"entry-dictionary","title":"Decreased proportion of CD8-positive T cells"},{"container-title":"HP:0005416","author":[{"family":"decreased serum factor b"},{"family":"A reduced level of the complement component factor B in circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005416","type":"entry-dictionary","title":"Decreased serum complement factor B"},{"container-title":"HP:0005419","author":[{"family":"profound depletion of t4+ lymphocytes"},{"family":"defective t cell activation"},{"family":"decreased t lymphocyte activation"},{"family":"decreased t-lymphocyte activation"},{"family":"decreased t-cell activation"},{"family":"Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005419","type":"entry-dictionary","title":"Decreased T cell activation"},{"container-title":"HP:0005420","author":[{"family":"Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005420","type":"entry-dictionary","title":"Recurrent gram-negative bacterial infections"},{"container-title":"HP:0005421","author":[{"family":"decreased serum c3"},{"family":"decreased serum complement c3 level"},{"family":"A reduced level of the complement component C3 in circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005421","type":"entry-dictionary","title":"Decreased serum complement C3"},{"container-title":"HP:0005422","author":[{"family":"absence of cd8+ t cells"},{"family":"Lack of detectible CD8-positive T cells"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005422","type":"entry-dictionary","title":"Absence of CD8-positive T cells"},{"container-title":"HP:0005423","author":[{"family":"An abnormality of the functioning of any aspect of the alternative complement pathway."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005423","type":"entry-dictionary","title":"Dysfunctional alternative complement pathway"},{"container-title":"HP:0005424","author":[{"family":"Absence of specific immunoglobulins directed against a specific antigen or microorganism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005424","type":"entry-dictionary","title":"Absent specific antibody response"},{"container-title":"HP:0005425","author":[{"family":"chronic sinopulmonary infection"},{"family":"An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005425","type":"entry-dictionary","title":"Recurrent sinopulmonary infections"},{"container-title":"HP:0005428","author":[{"family":"Severe recurrent varicella"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005428","type":"entry-dictionary","title":"Severe recurrent varicella"},{"container-title":"HP:0005429","author":[{"family":"Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005429","type":"entry-dictionary","title":"Recurrent systemic pyogenic infections"},{"container-title":"HP:0005430","author":[{"family":"episodes of neisserial infection"},{"family":"recurrent neisseria infections"},{"family":"Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005430","type":"entry-dictionary","title":"Recurrent Neisserial infections"},{"container-title":"HP:0005432","author":[{"family":"newborn gammaglobulin deficiency"},{"family":"At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005432","type":"entry-dictionary","title":"Transient hypogammaglobulinemia of infancy"},{"container-title":"HP:0005435","author":[{"family":"t-cell dysfunction"},{"family":"impaired t cell function"},{"family":"Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005435","type":"entry-dictionary","title":"Impaired T cell function"},{"container-title":"HP:0005437","author":[{"family":"Recurrent infections at an early age with improvement in later childhood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005437","type":"entry-dictionary","title":"Recurrent infections in infancy and early childhood"},{"container-title":"HP:0005439","author":[{"family":"deficiency of zygomaticomaxillary bone complex"},{"family":"decreased projection of zygomaticomaxillary bone complex"},{"family":"decreased size of zygomaticomaxillary bone complex"},{"family":"underdevelopment of zygomaticomaxillary bone complex"},{"family":"hypoplasia of zygomaticomaxillary complex"},{"family":"hypoplasia of malar bone complex"},{"family":"Hypoplasia of the maxillozygomatic complex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005439","type":"entry-dictionary","title":"Maxillozygomatic hypoplasia"},{"container-title":"HP:0005441","author":[{"family":"An increased density in the cranial sutures following obliteration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005441","type":"entry-dictionary","title":"Sclerotic cranial sutures"},{"container-title":"HP:0005442","author":[{"family":"The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005442","type":"entry-dictionary","title":"Widely patent coronal suture"},{"container-title":"HP:0005445","author":[{"family":"Widened posterior fossa"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005445","type":"entry-dictionary","title":"Widened posterior fossa"},{"container-title":"HP:0005446","author":[{"family":"steep mandibular plane angle"},{"family":"high mandibular plane angle"},{"family":"Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005446","type":"entry-dictionary","title":"Obtuse angle of mandible"},{"container-title":"HP:0005449","author":[{"family":"Bridged sella turcica"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005449","type":"entry-dictionary","title":"Bridged sella turcica"},{"container-title":"HP:0005450","author":[{"family":"An increase in bone density affecting the calvaria (roof of the skull)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005450","type":"entry-dictionary","title":"Calvarial osteosclerosis"},{"container-title":"HP:0005451","author":[{"family":"Decreased cranial base ossification"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005451","type":"entry-dictionary","title":"Decreased cranial base ossification"},{"container-title":"HP:0005453","author":[{"family":"Aplasia or hypoplasia of the paranasal sinuses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005453","type":"entry-dictionary","title":"Absent\/hypoplastic paranasal sinuses"},{"container-title":"HP:0005456","author":[{"family":"missing ethmoid sinuses"},{"family":"agenesis of ethmoid sinuses"},{"family":"failure of development of ethmoid sinuses"},{"family":"Lack (aplasia) of the ethmoidal sinus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005456","type":"entry-dictionary","title":"Absent ethmoidal sinuses"},{"container-title":"HP:0005458","author":[{"family":"early closure of the cranial sutures"},{"family":"early closure of the bregma sutures"},{"family":"premature closure of the cranial sutures"},{"family":"obliterated fontanelles"},{"family":"early closure of the fontanelles"},{"family":"premature closure of the bregma sutures"},{"family":"Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005458","type":"entry-dictionary","title":"Premature closure of fontanelles"},{"container-title":"HP:0005461","author":[{"family":"Craniofacial disproportion"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005461","type":"entry-dictionary","title":"Craniofacial disproportion"},{"container-title":"HP:0005462","author":[{"family":"The presence of calcium deposition in the falx cerebri."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005462","type":"entry-dictionary","title":"Calcification of falx cerebri"},{"container-title":"HP:0005463","author":[{"family":"Elongated sella turcica"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005463","type":"entry-dictionary","title":"Elongated sella turcica"},{"container-title":"HP:0005464","author":[{"family":"cranial sclerosis"},{"family":"Abnormally increased density of craniofacial bone tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005464","type":"entry-dictionary","title":"Craniofacial osteosclerosis"},{"container-title":"HP:0005465","author":[{"family":"hypertrophy of facial skeleton"},{"family":"increased ossification of facial bones"},{"family":"hypertrophy of facial bones"},{"family":"overgrowth of facial skeleton"},{"family":"excessive growth of facial bones"},{"family":"enlargement of facial skeleton"},{"family":"hyperostosis of facial bones"},{"family":"enlargment of the facial bones"},{"family":"enlargement of facial bones"},{"family":"increased ossification of facial skeleton"},{"family":"excessive growth of facial skeleton"},{"family":"hyperostosis of facial skeleton"},{"family":"overgrowth of facial bones"},{"family":"hypertrophy of the facial bones"},{"family":"increase in size of the facial bones"},{"family":"overgrowth of the facial bones"},{"family":"Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005465","type":"entry-dictionary","title":"Facial hyperostosis"},{"container-title":"HP:0005466","author":[{"family":"underdevelopment of bone of forehead"},{"family":"decreased size of bone of forehead"},{"family":"hypoplastic frontal bones"},{"family":"thin bone of forehead"},{"family":"small bone of forehead"},{"family":"hypotrophic frontal bones"},{"family":"Underdevelopment of the frontal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005466","type":"entry-dictionary","title":"Hypoplasia of the frontal bone"},{"container-title":"HP:0005469","author":[{"family":"flat back of the skull"},{"family":"posterior flattening of the skull"},{"family":"flat back of the head"},{"family":"flat posterior cranium"},{"family":"flat posterior head"},{"family":"Reduced convexity of the occiput (posterior part of skull)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005469","type":"entry-dictionary","title":"Flat occiput"},{"container-title":"HP:0005472","author":[{"family":"Orbital craniosynostosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005472","type":"entry-dictionary","title":"Orbital craniosynostosis"},{"container-title":"HP:0005473","author":[{"family":"Bony fusion of malleus, incus, and stapes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005473","type":"entry-dictionary","title":"Fusion of middle ear ossicles"},{"container-title":"HP:0005474","author":[{"family":"soft calvaria"},{"family":"poorly ossified calvaria"},{"family":"poorly ossified calvarium"},{"family":"undermineralized calvarium"},{"family":"soft skullcap"},{"family":"Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005474","type":"entry-dictionary","title":"Decreased calvarial ossification"},{"container-title":"HP:0005476","author":[{"family":"The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005476","type":"entry-dictionary","title":"Widely patent sagittal suture"},{"container-title":"HP:0005477","author":[{"family":"Progressively increasing bone density of the skull base without significant changes in bony contour."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005477","type":"entry-dictionary","title":"Progressive sclerosis of skull base"},{"container-title":"HP:0005478","author":[{"family":"large frontal sinus"},{"family":"hyperplasia of frontal sinus"},{"family":"hypertrophy of frontal sinus"},{"family":"increased size of frontal sinus"},{"family":"increased volume of frontal sinus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005478","type":"entry-dictionary","title":"Prominent frontal sinuses"},{"container-title":"HP:0005479","author":[{"family":"decreased ige"},{"family":"An abnormally decreased level of immunoglobulin IgE in blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005479","type":"entry-dictionary","title":"IgE deficiency"},{"container-title":"HP:0005482","author":[{"family":"A deviation in any aspect of the alternative complement pathway."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005482","type":"entry-dictionary","title":"Abnormality of the alternative complement pathway"},{"container-title":"HP:0005483","author":[{"family":"abnormality of the epiglottis"},{"family":"An abnormality of the epiglottis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005483","type":"entry-dictionary","title":"Abnormal epiglottis morphology"},{"container-title":"HP:0005484","author":[{"family":"acquired microcephaly"},{"family":"deceleration of head growth"},{"family":"postnatal deceleration of head circumference"},{"family":"microcephaly, 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frontal suture"},{"family":"prominent metopic suture"},{"family":"Vertical bony ridge positioned in the midline of the forehead."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005487","type":"entry-dictionary","title":"Prominent metopic ridge"},{"container-title":"HP:0005490","author":[{"family":"macrocephaly, postnatal"},{"family":"The postnatal development of an abnormally large skull (macrocephaly)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005490","type":"entry-dictionary","title":"Postnatal macrocephaly"},{"container-title":"HP:0005494","author":[{"family":"Premature posterior fontanelle closure"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005494","type":"entry-dictionary","title":"Premature posterior fontanelle closure"},{"container-title":"HP:0005495","author":[{"family":"The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005495","type":"entry-dictionary","title":"Metopic suture patent to nasal root"},{"container-title":"HP:0005498","author":[{"family":"Midline skin dimples over anterior\/posterior fontanelles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005498","type":"entry-dictionary","title":"Midline skin dimples over anterior\/posterior fontanelles"},{"container-title":"HP:0005502","author":[{"family":"increased red cell fragility"},{"family":"increased erythrocyte osmotic fragility"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005502","type":"entry-dictionary","title":"Increased red cell osmotic fragility"},{"container-title":"HP:0005505","author":[{"family":"Refractory anemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005505","type":"entry-dictionary","title":"Refractory anemia"},{"container-title":"HP:0005506","author":[{"family":"chronic myelocytic leukemia"},{"family":"chronic myeloid leukemia"},{"family":"A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005506","type":"entry-dictionary","title":"Chronic myelogenous leukemia"},{"container-title":"HP:0005507","author":[{"family":"Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005507","type":"entry-dictionary","title":"Hemoglobin Barts"},{"container-title":"HP:0005508","author":[{"family":"waldenstrom macroglobulinemia"},{"family":"Presence of a monoclonal immunoglobulin M protein in the serum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005508","type":"entry-dictionary","title":"Monoclonal immunoglobulin M proteinemia"},{"container-title":"HP:0005510","author":[{"family":"transient decrease in blood erythrocyte number"},{"family":"A transient reduction in the number of erythroblasts in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005510","type":"entry-dictionary","title":"Transient erythroblastopenia"},{"container-title":"HP:0005511","author":[{"family":"Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005511","type":"entry-dictionary","title":"Heinz body anemia"},{"container-title":"HP:0005512","author":[{"family":"A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005512","type":"entry-dictionary","title":"Impaired neutrophil killing of staphylococci"},{"container-title":"HP:0005513","author":[{"family":"Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005513","type":"entry-dictionary","title":"Increased megakaryocyte count"},{"container-title":"HP:0005517","author":[{"family":"A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005517","type":"entry-dictionary","title":"T-cell lymphoma\/leukemia"},{"container-title":"HP:0005518","author":[{"family":"erythrocyte macrocytosis"},{"family":"Larger than normal size of erythrocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005518","type":"entry-dictionary","title":"Increased mean corpuscular volume"},{"container-title":"HP:0005520","author":[{"family":"chronic consumption coagulopathy"},{"family":"compensated disseminated intravascular coagulation"},{"family":"A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005520","type":"entry-dictionary","title":"Chronic disseminated intravascular coagulation"},{"container-title":"HP:0005521","author":[{"family":"Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005521","type":"entry-dictionary","title":"Disseminated intravascular coagulation"},{"container-title":"HP:0005522","author":[{"family":"A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005522","type":"entry-dictionary","title":"Pyridoxine-responsive sideroblastic anemia"},{"container-title":"HP:0005523","author":[{"family":"lymphoproliferative disorders"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005523","type":"entry-dictionary","title":"Lymphoproliferative disorder"},{"container-title":"HP:0005524","author":[{"family":"Macrocytic hemolytic disease"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005524","type":"entry-dictionary","title":"Macrocytic hemolytic disease"},{"container-title":"HP:0005525","author":[{"family":"Spontaneous hemolytic crises"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005525","type":"entry-dictionary","title":"Spontaneous hemolytic crises"},{"container-title":"HP:0005526","author":[{"family":"A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005526","type":"entry-dictionary","title":"Lymphoid leukemia"},{"container-title":"HP:0005527","author":[{"family":"fitzgerald factor deficiency"},{"family":"williams factor deficiency"},{"family":"kininogen deficiency"},{"family":"williams-fitzgerald-flaujeac factor deficiency"},{"family":"Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005527","type":"entry-dictionary","title":"Reduced kininogen activity"},{"container-title":"HP:0005528","author":[{"family":"bone marrow failure"},{"family":"bone marrow hypoplasia"},{"family":"hypoplastic bone marrow"},{"family":"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005528","type":"entry-dictionary","title":"Bone marrow hypocellularity"},{"container-title":"HP:0005531","author":[{"family":"acute biphenotypic leukemia"},{"family":"myeloid\/lymphoid leukemia"},{"family":"A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005531","type":"entry-dictionary","title":"Biphenotypic acute leukaemia"},{"container-title":"HP:0005532","author":[{"family":"Macrocytic dyserythropoietic anemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005532","type":"entry-dictionary","title":"Macrocytic dyserythropoietic anemia"},{"container-title":"HP:0005534","author":[{"family":"transient myeloproliferative disorder"},{"family":"transient leukemia of down syndrome"},{"family":"tmd"},{"family":"A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005534","type":"entry-dictionary","title":"Transient myeloproliferative syndrome"},{"container-title":"HP:0005535","author":[{"family":"A form of hemolytic anemia that can be triggered by exertion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005535","type":"entry-dictionary","title":"Exercise-induced hemolysis"},{"container-title":"HP:0005537","author":[{"family":"small platelets size"},{"family":"small platelet size"},{"family":"Average platelet volume below the lower limit of the normal reference interval."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005537","type":"entry-dictionary","title":"Decreased mean platelet volume"},{"container-title":"HP:0005539","author":[{"family":"A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005539","type":"entry-dictionary","title":"T cell chronic lymphocytic lymphoma\/leukemia"},{"container-title":"HP:0005540","author":[{"family":"distorted red blood cells resembling keratocytes"},{"family":"A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005540","type":"entry-dictionary","title":"Red blood cell keratocytosis"},{"container-title":"HP:0005541","author":[{"family":"Congenital onset of a marked decrease in the number of granulocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005541","type":"entry-dictionary","title":"Congenital agranulocytosis"},{"container-title":"HP:0005542","author":[{"family":"prolonged clotting time"},{"family":"An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005542","type":"entry-dictionary","title":"Prolonged whole-blood clotting time"},{"container-title":"HP:0005543","author":[{"family":"protein c deficiency"},{"family":"An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005543","type":"entry-dictionary","title":"Reduced protein C activity"},{"container-title":"HP:0005546","author":[{"family":"Increased red cell osmotic resistance"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005546","type":"entry-dictionary","title":"Increased red cell osmotic resistance"},{"container-title":"HP:0005547","author":[{"family":"Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005547","type":"entry-dictionary","title":"Myeloproliferative disorder"},{"container-title":"HP:0005548","author":[{"family":"A reduced count of megakaryocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005548","type":"entry-dictionary","title":"Megakaryocytopenia"},{"container-title":"HP:0005549","author":[{"family":"low blood neutrophil level since birth"},{"family":"A form of neutropenia with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005549","type":"entry-dictionary","title":"Congenital neutropenia"},{"container-title":"HP:0005550","author":[{"family":"chronic lymphocytic leukemia"},{"family":"A chronic lymphocytic\/lymphatic\/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005550","type":"entry-dictionary","title":"Chronic lymphatic leukemia"},{"container-title":"HP:0005556","author":[{"family":"The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\"."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005556","type":"entry-dictionary","title":"Abnormality of the metopic suture"},{"container-title":"HP:0005557","author":[{"family":"malformation of the zygomatic arch"},{"family":"anomaly of the malar arch"},{"family":"malformation of the malar arch"},{"family":"deformity of the zygomatic arch"},{"family":"deformity of the malar arch"},{"family":"abnormality of the malar arch"},{"family":"anomaly of the zygomatic arch"},{"family":"An abnormality of the zygomatic arch, also known as the cheek bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005557","type":"entry-dictionary","title":"Abnormality of the zygomatic arch"},{"container-title":"HP:0005558","author":[{"family":"chronic blood cancer"},{"family":"A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005558","type":"entry-dictionary","title":"Chronic leukemia"},{"container-title":"HP:0005559","author":[{"family":"Abnormality of the kinin-kallikrein system"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005559","type":"entry-dictionary","title":"Abnormality of the kinin-kallikrein system"},{"container-title":"HP:0005560","author":[{"family":"Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005560","type":"entry-dictionary","title":"Imbalanced hemoglobin synthesis"},{"container-title":"HP:0005561","author":[{"family":"bone marrow disease"},{"family":"anomaly of the bone marrow cells"},{"family":"An anomaly of the form or number of cells in the bone marrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005561","type":"entry-dictionary","title":"Abnormality of bone marrow cell morphology"},{"container-title":"HP:0005562","author":[{"family":"multiple kidney cysts"},{"family":"The presence of many cysts in the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005562","type":"entry-dictionary","title":"Multiple renal cysts"},{"container-title":"HP:0005563","author":[{"family":"decreased numbers of glomeruli"},{"family":"oligonephronia"},{"family":"A reduction in the count of nephrons per kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005563","type":"entry-dictionary","title":"Decreased numbers of nephrons"},{"container-title":"HP:0005564","author":[{"family":"loss of corticomedullary differentiation"},{"family":"absent renal corticomedullary differentiation"},{"family":"A lack of differentiation between renal cortex and medulla on diagnostic imaging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005564","type":"entry-dictionary","title":"Absence of renal corticomedullary differentiation"},{"container-title":"HP:0005565","author":[{"family":"loss of definition of corticomedullary differentiation"},{"family":"Reduced differentiation between renal cortex and medulla on diagnostic imaging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005565","type":"entry-dictionary","title":"Reduced renal corticomedullary differentiation"},{"container-title":"HP:0005567","author":[{"family":"High urine magnesium in the presence of hypomagnesemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005567","type":"entry-dictionary","title":"Renal magnesium wasting"},{"container-title":"HP:0005571","author":[{"family":"increased percent tubular reabsorption of phosphorus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005571","type":"entry-dictionary","title":"Increased renal tubular phosphate reabsorption"},{"container-title":"HP:0005572","author":[{"family":"Decreased renal tubular phosphate excretion"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005572","type":"entry-dictionary","title":"Decreased renal tubular phosphate excretion"},{"container-title":"HP:0005574","author":[{"family":"A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005574","type":"entry-dictionary","title":"Non-acidotic proximal tubulopathy"},{"container-title":"HP:0005575","author":[{"family":"hemolytic uremic syndrome"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005575","type":"entry-dictionary","title":"Hemolytic-uremic syndrome"},{"container-title":"HP:0005576","author":[{"family":"tubulointerstitial renal fibrosis"},{"family":"tubulointerstitial scarring"},{"family":"renal interstitial fibrosis"},{"family":"A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005576","type":"entry-dictionary","title":"Tubulointerstitial fibrosis"},{"container-title":"HP:0005579","author":[{"family":"Impaired reabsorption of chloride"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005579","type":"entry-dictionary","title":"Impaired reabsorption of chloride"},{"container-title":"HP:0005580","author":[{"family":"A duplication of the renal pelvis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005580","type":"entry-dictionary","title":"Duplication of renal pelvis"},{"container-title":"HP:0005583","author":[{"family":"disintegration of the tubular basement membrane"},{"family":"DIsruption and breaking up of the basement membrane of the tubules of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005583","type":"entry-dictionary","title":"Tubular basement membrane disintegration"},{"container-title":"HP:0005584","author":[{"family":"renal carcinoma"},{"family":"hypernephroma"},{"family":"A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005584","type":"entry-dictionary","title":"Renal cell carcinoma"},{"container-title":"HP:0005585","author":[{"family":"spotty increased pigmentation"},{"family":"patchy depigmentation"},{"family":"patchy hyperpigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005585","type":"entry-dictionary","title":"Spotty hyperpigmentation"},{"container-title":"HP:0005586","author":[{"family":"increased pigmentation in sun-exposed areas"},{"family":"hyperpigmentation of exposed areas"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005586","type":"entry-dictionary","title":"Hyperpigmentation in sun-exposed areas"},{"container-title":"HP:0005587","author":[{"family":"Profuse pigmented skin lesions"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005587","type":"entry-dictionary","title":"Profuse pigmented skin lesions"},{"container-title":"HP:0005588","author":[{"family":"palmoplantar keratoderma, patchy"},{"family":"A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005588","type":"entry-dictionary","title":"Patchy palmoplantar keratoderma"},{"container-title":"HP:0005590","author":[{"family":"spotty decreased pigmentation"},{"family":"patchy hypopigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005590","type":"entry-dictionary","title":"Spotty hypopigmentation"},{"container-title":"HP:0005592","author":[{"family":"macromelanosomes"},{"family":"The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005592","type":"entry-dictionary","title":"Giant melanosomes in melanocytes"},{"container-title":"HP:0005593","author":[{"family":"Macular hypopigmented whorls, streaks, and patches"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005593","type":"entry-dictionary","title":"Macular hypopigmented whorls, streaks, and patches"},{"container-title":"HP:0005595","author":[{"family":"hyperkeratosis, generalized"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005595","type":"entry-dictionary","title":"Generalized hyperkeratosis"},{"container-title":"HP:0005597","author":[{"family":"Loss of all scalp hair with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005597","type":"entry-dictionary","title":"Congenital alopecia totalis"},{"container-title":"HP:0005598","author":[{"family":"butterfly facial telangiectasia"},{"family":"Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005598","type":"entry-dictionary","title":"Facial telangiectasia in butterfly midface distribution"},{"container-title":"HP:0005599","author":[{"family":"hair hypopigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005599","type":"entry-dictionary","title":"Hypopigmentation of hair"},{"container-title":"HP:0005600","author":[{"family":"giant pigmented nevus"},{"family":"giant pigmented hairy nevus"},{"family":"giant pigmented mole"},{"family":"The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005600","type":"entry-dictionary","title":"Congenital giant melanocytic nevus"},{"container-title":"HP:0005602","author":[{"family":"Progressive vitiligo"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005602","type":"entry-dictionary","title":"Progressive vitiligo"},{"container-title":"HP:0005603","author":[{"family":"Numerous congenital melanocytic nevi"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005603","type":"entry-dictionary","title":"Numerous congenital melanocytic nevi"},{"container-title":"HP:0005605","author":[{"family":"Large hypermelanotic macules with jagged borders."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005605","type":"entry-dictionary","title":"Large cafe-au-lait macules with irregular margins"},{"container-title":"HP:0005606","author":[{"family":"Hyperpigmented nevi and streak"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005606","type":"entry-dictionary","title":"Hyperpigmented nevi and streak"},{"container-title":"HP:0005607","author":[{"family":"tracheobronchial anomalies"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005607","type":"entry-dictionary","title":"Abnormal tracheobronchial morphology"},{"container-title":"HP:0005608","author":[{"family":"bilobed gallbladder"},{"family":"double gallbladder"},{"family":"gallbladder duplication"},{"family":"The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005608","type":"entry-dictionary","title":"Bilobate gallbladder"},{"container-title":"HP:0005609","author":[{"family":"gallbladder dysfunction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005609","type":"entry-dictionary","title":"Gallbladder dysfunction"},{"container-title":"HP:0005612","author":[{"family":"Arthrogryposis-like hand anomaly"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005612","type":"entry-dictionary","title":"Arthrogryposis-like hand anomaly"},{"container-title":"HP:0005613","author":[{"family":"absent\/small thighbone"},{"family":"absent\/underdeveloped thighbone"},{"family":"hypoplastic\/aplastic femora"},{"family":"hypoplastic to absent femora"},{"family":"Absence or underdevelopment of the femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005613","type":"entry-dictionary","title":"Aplasia\/hypoplasia of the femur"},{"container-title":"HP:0005616","author":[{"family":"advanced bone age"},{"family":"early bone maturation"},{"family":"An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005616","type":"entry-dictionary","title":"Accelerated skeletal maturation"},{"container-title":"HP:0005617","author":[{"family":"Bilateral camptodactyly"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005617","type":"entry-dictionary","title":"Bilateral camptodactyly"},{"container-title":"HP:0005619","author":[{"family":"thoracolumbar gibbus deformity"},{"family":"Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005619","type":"entry-dictionary","title":"Thoracolumbar kyphosis"},{"container-title":"HP:0005620","author":[{"family":"increased mobility of hinge joints"},{"family":"The ability of the interphalangeal joints to move beyond their normal range of motion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005620","type":"entry-dictionary","title":"Hypermobility of interphalangeal joints"},{"container-title":"HP:0005621","author":[{"family":"Trapezoidal shaped vertebral bodies"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005621","type":"entry-dictionary","title":"Trapezoidal shaped vertebral bodies"},{"container-title":"HP:0005622","author":[{"family":"widened long bones"},{"family":"wide long bones"},{"family":"broad long bones"},{"family":"Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005622","type":"entry-dictionary","title":"Broad long bones"},{"container-title":"HP:0005623","author":[{"family":"absent ossification of skull vault"},{"family":"absent bone maturation of skullcap"},{"family":"Absent ossification of the calvaria (vault of the skull)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005623","type":"entry-dictionary","title":"Absent ossification of calvaria"},{"container-title":"HP:0005625","author":[{"family":"Osteoporosis affecting predominantly the vertebrae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005625","type":"entry-dictionary","title":"Osteoporosis of vertebrae"},{"container-title":"HP:0005626","author":[{"family":"Bony fusion of the posterior part of the L5 vertebral body with the sacrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005626","type":"entry-dictionary","title":"Posterior fusion of lumbosacral vertebrae"},{"container-title":"HP:0005627","author":[{"family":"brachydactyly type d"},{"family":"This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005627","type":"entry-dictionary","title":"Type D brachydactyly"},{"container-title":"HP:0005632","author":[{"family":"absent forearms"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005632","type":"entry-dictionary","title":"Absent forearm"},{"container-title":"HP:0005638","author":[{"family":"Decreased anterioposterior diameter of lumbar vertebral bodies"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005638","type":"entry-dictionary","title":"Decreased anterioposterior diameter of lumbar vertebral bodies"},{"container-title":"HP:0005639","author":[{"family":"The ability of the joints of the hand to move beyond their normal range of motion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005639","type":"entry-dictionary","title":"Hyperextensible hand joints"},{"container-title":"HP:0005640","author":[{"family":"Abnormal vertebral segmentation and fusion"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005640","type":"entry-dictionary","title":"Abnormal vertebral segmentation and fusion"},{"container-title":"HP:0005643","author":[{"family":"brachydactyly of third toes"},{"family":"short third toe"},{"family":"short 3rd toe"},{"family":"Underdevelopment (hypoplasia) of the third toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005643","type":"entry-dictionary","title":"Short 3rd toe"},{"container-title":"HP:0005645","author":[{"family":"multiple intervertebral disk calcifications"},{"family":"The presence of abnormal calcium deposition of the intervertebral disk."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005645","type":"entry-dictionary","title":"Intervertebral disk calcification"},{"container-title":"HP:0005648","author":[{"family":"Underdevelopment of the ulna on both sides."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005648","type":"entry-dictionary","title":"Bilateral ulnar hypoplasia"},{"container-title":"HP:0005650","author":[{"family":"A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005650","type":"entry-dictionary","title":"Cutaneous syndactyly between fingers 2 and 5"},{"container-title":"HP:0005652","author":[{"family":"Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005652","type":"entry-dictionary","title":"Cortical sclerosis"},{"container-title":"HP:0005653","author":[{"family":"Moderate osteoporosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005653","type":"entry-dictionary","title":"Moderate generalized osteoporosis"},{"container-title":"HP:0005655","author":[{"family":"Multiple exostoses originating in the fingers and toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005655","type":"entry-dictionary","title":"Multiple digital exostoses"},{"container-title":"HP:0005656","author":[{"family":"A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005656","type":"entry-dictionary","title":"Positional foot deformity"},{"container-title":"HP:0005659","author":[{"family":"Thoracic kyphoscoliosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005659","type":"entry-dictionary","title":"Thoracic kyphoscoliosis"},{"container-title":"HP:0005661","author":[{"family":"salmonella bone infection"},{"family":"Osteomyelitis caused by infection with the bacteria, salmonella."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005661","type":"entry-dictionary","title":"Salmonella osteomyelitis"},{"container-title":"HP:0005665","author":[{"family":"Extreme thickening of the cortex of long bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005665","type":"entry-dictionary","title":"Massively thickened long bone cortices"},{"container-title":"HP:0005667","author":[{"family":"Separation of the odontoid process from the body of the axis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005667","type":"entry-dictionary","title":"Os odontoideum"},{"container-title":"HP:0005671","author":[{"family":"Deposition of calcium salts on both sides of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005671","type":"entry-dictionary","title":"Bilateral intracranial calcifications"},{"container-title":"HP:0005676","author":[{"family":"Rudimentary postaxial polydactyly of hands"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005676","type":"entry-dictionary","title":"Rudimentary postaxial polydactyly of hands"},{"container-title":"HP:0005678","author":[{"family":"Anterior atlanto-occipital dislocation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005678","type":"entry-dictionary","title":"Anterior atlanto-occipital dislocation"},{"container-title":"HP:0005679","author":[{"family":"An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005679","type":"entry-dictionary","title":"Dupuytren contracture"},{"container-title":"HP:0005680","author":[{"family":"A tongue-like protusion from the anterior aspect of lumbar vertebral bodies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005680","type":"entry-dictionary","title":"Tongue-like lumbar vertebral deformities"},{"container-title":"HP:0005681","author":[{"family":"rheumatoid arthritis, juvenile"},{"family":"juvenile idiopathic arthritis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005681","type":"entry-dictionary","title":"Juvenile rheumatoid arthritis"},{"container-title":"HP:0005682","author":[{"family":"fusion of foot joint"},{"family":"fusion of the subtalar joint"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005682","type":"entry-dictionary","title":"Talocalcaneal synostosis"},{"container-title":"HP:0005684","author":[{"family":"A form of arthrogryposis primarily affecting the hands and the feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005684","type":"entry-dictionary","title":"Distal arthrogryposis"},{"container-title":"HP:0005686","author":[{"family":"patchy increase of bone mineral density"},{"family":"uneven increase in bone density"},{"family":"Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005686","type":"entry-dictionary","title":"Patchy osteosclerosis"},{"container-title":"HP:0005687","author":[{"family":"deformed head of long bone in upper arm"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005687","type":"entry-dictionary","title":"Deformed humeral heads"},{"container-title":"HP:0005688","author":[{"family":"Dysplastic distal thumb phalanges with a central hole"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005688","type":"entry-dictionary","title":"Dysplastic distal thumb phalanges with a central hole"},{"container-title":"HP:0005689","author":[{"family":"Dermatoglyphic ridges abnormal"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005689","type":"entry-dictionary","title":"Dermatoglyphic ridges abnormal"},{"container-title":"HP:0005692","author":[{"family":"Joint hyperflexibility"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005692","type":"entry-dictionary","title":"Joint hyperflexibility"},{"container-title":"HP:0005694","author":[{"family":"partial fusion of innermost row of wrist bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005694","type":"entry-dictionary","title":"Partial fusion of proximal row of carpal bones"},{"container-title":"HP:0005696","author":[{"family":"Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005696","type":"entry-dictionary","title":"Postaxial polydactyly type A"},{"container-title":"HP:0005700","author":[{"family":"Increased bone density with cystic changes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005700","type":"entry-dictionary","title":"Increased bone density with cystic changes"},{"container-title":"HP:0005701","author":[{"family":"Multiple enchondromatosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005701","type":"entry-dictionary","title":"Multiple enchondromatosis"},{"container-title":"HP:0005707","author":[{"family":"bilateral digitalized thumb"},{"family":"A bilateral form of triphalangeal thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005707","type":"entry-dictionary","title":"Bilateral triphalangeal thumbs"},{"container-title":"HP:0005709","author":[{"family":"webbed skin of 2nd-3rd toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005709","type":"entry-dictionary","title":"2-3 toe cutaneous syndactyly"},{"container-title":"HP:0005715","author":[{"family":"flattened end part of knee bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005715","type":"entry-dictionary","title":"Flattened knee epiphyses"},{"container-title":"HP:0005716","author":[{"family":"lethal dwarfism identifiable at birth"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005716","type":"entry-dictionary","title":"Lethal skeletal dysplasia"},{"container-title":"HP:0005720","author":[{"family":"shortened long bones of hand"},{"family":"Abnormal reduction in length of all metacarpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005720","type":"entry-dictionary","title":"Shortening of all metacarpals"},{"container-title":"HP:0005722","author":[{"family":"double jointed thumb"},{"family":"The ability of the thumb joints to move beyond their normal range of motion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005722","type":"entry-dictionary","title":"Hyperextensible thumb"},{"container-title":"HP:0005723","author":[{"family":"Shoe-shaped sella turcica"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005723","type":"entry-dictionary","title":"Shoe-shaped sella turcica"},{"container-title":"HP:0005725","author":[{"family":"A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005725","type":"entry-dictionary","title":"Nonopposable triphalangeal thumb"},{"container-title":"HP:0005726","author":[{"family":"short thumbs with bulbous tips"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005726","type":"entry-dictionary","title":"Thumbs hypoplastic with bulbous tips"},{"container-title":"HP:0005731","author":[{"family":"An abnormal irregularity of cortical bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005731","type":"entry-dictionary","title":"Cortical irregularity"},{"container-title":"HP:0005733","author":[{"family":"spinal stenosis due to short pedicles"},{"family":"An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005733","type":"entry-dictionary","title":"Spinal stenosis with reduced interpedicular distance"},{"container-title":"HP:0005736","author":[{"family":"short skankbone"},{"family":"hypoplastic tibia"},{"family":"short shinbone"},{"family":"short tibiae"},{"family":"hypoplasia of the tibia"},{"family":"Underdevelopment (reduced size) of the tibia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005736","type":"entry-dictionary","title":"Short tibia"},{"container-title":"HP:0005739","author":[{"family":"Partial dislocation of the head of the radius in the posterior direction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005739","type":"entry-dictionary","title":"Posterior subluxation of radial head"},{"container-title":"HP:0005743","author":[{"family":"perthes-like femoral head changes"},{"family":"osteochondrosis of the femoral head"},{"family":"coxa plana"},{"family":"morbus legg-calve-perthes"},{"family":"legg-perthes disease"},{"family":"legg-calve-perthes syndrome"},{"family":"Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005743","type":"entry-dictionary","title":"Avascular necrosis of the capital femoral epiphysis"},{"container-title":"HP:0005745","author":[{"family":"Congenital foot contractures"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005745","type":"entry-dictionary","title":"Congenital foot contractures"},{"container-title":"HP:0005746","author":[{"family":"osteosclerosis of the skull base"},{"family":"An increase in bone density affecting the basicranium (base of the skull)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005746","type":"entry-dictionary","title":"Osteosclerosis of the base of the skull"},{"container-title":"HP:0005747","author":[{"family":"Easily subluxated first metacarpophalangeal joints"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005747","type":"entry-dictionary","title":"Easily subluxated first metacarpophalangeal joints"},{"container-title":"HP:0005750","author":[{"family":"contractures, lower limbs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005750","type":"entry-dictionary","title":"Contractures of the joints of the lower limbs"},{"container-title":"HP:0005752","author":[{"family":"Flattened moderately deformed vertebrae"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005752","type":"entry-dictionary","title":"Flattened moderately deformed vertebrae"},{"container-title":"HP:0005756","author":[{"family":"speckled calcifications in bone end parts in neonates"},{"family":"epiphyseal stippling in neonates"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005756","type":"entry-dictionary","title":"Neonatal epiphyseal 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meningocele"},{"container-title":"HP:0005766","author":[{"family":"disproportionate shortening of the shankbone"},{"family":"disproportionate shortening of the shinbone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005766","type":"entry-dictionary","title":"Disproportionate shortening of the tibia"},{"container-title":"HP:0005767","author":[{"family":"webbed 1st-2nd toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005767","type":"entry-dictionary","title":"1-2 toe complete cutaneous syndactyly"},{"container-title":"HP:0005768","author":[{"family":"webbed 2nd, 3rd and 4th toes"},{"family":"webbed second, third and fourth toes"},{"family":"soft tissue syndactyly of toes 2, 3, and 4"},{"family":"A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005768","type":"entry-dictionary","title":"2-4 toe cutaneous syndactyly"},{"container-title":"HP:0005769","author":[{"family":"curvature of outermost bone of 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radius, resulting in a shortened forearm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005773","type":"entry-dictionary","title":"Short forearm"},{"container-title":"HP:0005775","author":[{"family":"Multiple skeletal anomalies"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005775","type":"entry-dictionary","title":"Multiple skeletal anomalies"},{"container-title":"HP:0005776","author":[{"family":"Carpal bone malsegmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005776","type":"entry-dictionary","title":"Carpal bone malsegmentation"},{"container-title":"HP:0005780","author":[{"family":"no fourth finger distal interphalangeal crease"},{"family":"Absence of the distal interphalangeal flexion creases of the fourth finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005780","type":"entry-dictionary","title":"Absent fourth finger distal interphalangeal crease"},{"container-title":"HP:0005781","author":[{"family":"Contractures of the large joints"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005781","type":"entry-dictionary","title":"Contractures of the large joints"},{"container-title":"HP:0005787","author":[{"family":"A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005787","type":"entry-dictionary","title":"Lumbar platyspondyly"},{"container-title":"HP:0005788","author":[{"family":"Abnormal cervical myelogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005788","type":"entry-dictionary","title":"Abnormal cervical myelogram"},{"container-title":"HP:0005789","author":[{"family":"diffuse, symmetrical osteosclerosis"},{"family":"osteosclerosis, diffuse symmetrical"},{"family":"increased bone density in skeletal bones"},{"family":"An abnormal increase of bone mineral density with generalized involvement of the skeleton."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005789","type":"entry-dictionary","title":"Generalized osteosclerosis"},{"container-title":"HP:0005790","author":[{"family":"decreased height of condylar process of mandible"},{"family":"short condylar neck of mandible"},{"family":"short condylar process of mandible"},{"family":"decreased length of condylar process of mandible"},{"family":"short condylar head of mandible"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005790","type":"entry-dictionary","title":"Short mandibular condyles"},{"container-title":"HP:0005791","author":[{"family":"Abnormal thickening of the cortex of the diaphyseal region of long bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005791","type":"entry-dictionary","title":"Cortical thickening of long bone diaphyses"},{"container-title":"HP:0005792","author":[{"family":"hypoplastic humerus"},{"family":"short humeri"},{"family":"short long bone of upper arm"},{"family":"humeral hypoplasia"},{"family":"humeral shortening"},{"family":"short humerus"},{"family":"short upper arms"},{"family":"Underdevelopment of the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005792","type":"entry-dictionary","title":"Short humerus"},{"container-title":"HP:0005793","author":[{"family":"shortening of all outermost bone of the toes"},{"family":"Abnormally short distal phalanx of toe of all toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005793","type":"entry-dictionary","title":"Shortening of all distal phalanges of the toes"},{"container-title":"HP:0005798","author":[{"family":"A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005798","type":"entry-dictionary","title":"Posterior radial head dislocation"},{"container-title":"HP:0005802","author":[{"family":"Coalescence of tarsal 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Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005920","type":"entry-dictionary","title":"Abnormality of the epiphyses of the phalanges of the hand"},{"container-title":"HP:0005922","author":[{"family":"abnormal shape of hand"},{"family":"Any structural anomaly of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005922","type":"entry-dictionary","title":"Abnormal hand morphology"},{"container-title":"HP:0005923","author":[{"family":"abnormality of the wide portion of the hand bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005923","type":"entry-dictionary","title":"Abnormalities of the metaphyses of the hand"},{"container-title":"HP:0005924","author":[{"family":"abnormality of the end part of the hand bone"},{"family":"Any abnormality of the epiphyses of the phalanges or metacarpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005924","type":"entry-dictionary","title":"Abnormality of the epiphyses of the hand"},{"container-title":"HP:0005925","author":[{"family":"abnormalities of shaft of long bone of the hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005925","type":"entry-dictionary","title":"Abnormalities of the diaphyses of the hand"},{"container-title":"HP:0005926","author":[{"family":"abnormality of the cortex of hand bones"},{"family":"An anomaly of the outer shell (cortex) of a hand bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005926","type":"entry-dictionary","title":"Abnormality of hand cortical bone"},{"container-title":"HP:0005927","author":[{"family":"absent\/small hand bones"},{"family":"absent\/underdeveloped hand bones"},{"family":"hypoplasia\/absence of hand bones"},{"family":"Absence (due to failure to form) or underdevelopment of the bones of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005927","type":"entry-dictionary","title":"Aplasia\/hypoplasia involving bones of the hand"},{"container-title":"HP:0005928","author":[{"family":"bone fusion involving the calf bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005928","type":"entry-dictionary","title":"Synostosis involving the fibula"},{"container-title":"HP:0005929","author":[{"family":"bone fusion involving the shinbone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005929","type":"entry-dictionary","title":"Synostosis involving the tibia"},{"container-title":"HP:0005930","author":[{"family":"abnormality of the epiphyses"},{"family":"anomaly of the epiphyses"},{"family":"epiphyseal abnormality"},{"family":"abnormal shape of end part of bone"},{"family":"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005930","type":"entry-dictionary","title":"Abnormality of epiphysis morphology"},{"container-title":"HP:0005932","author":[{"family":"An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005932","type":"entry-dictionary","title":"Abnormal renal corticomedullary differentiation"},{"container-title":"HP:0005934","author":[{"family":"Imperfect vocal cord adduction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005934","type":"entry-dictionary","title":"Imperfect vocal cord adduction"},{"container-title":"HP:0005938","author":[{"family":"Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005938","type":"entry-dictionary","title":"Abnormal respiratory motile cilium morphology"},{"container-title":"HP:0005939","author":[{"family":"Multiple bilateral 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stridor"},{"container-title":"HP:0005952","author":[{"family":"decreased lung function"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005952","type":"entry-dictionary","title":"Decreased pulmonary function"},{"container-title":"HP:0005954","author":[{"family":"pulmonary hemangiomas"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005954","type":"entry-dictionary","title":"Pulmonary capillary hemangiomatosis"},{"container-title":"HP:0005956","author":[{"family":"Abnormal shortening of the larynx in the anteroposterior (front to back) axis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005956","type":"entry-dictionary","title":"Anteroposteriorly shortened larynx"},{"container-title":"HP:0005957","author":[{"family":"difficult to breathe"},{"family":"breathing difficulty"},{"family":"abnormal breathing"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005957","type":"entry-dictionary","title":"Breathing dysregulation"},{"container-title":"HP:0005959","author":[{"family":"gluconeogenesis 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acidosis"},{"container-title":"HP:0005968","author":[{"family":"body temperature instability"},{"family":"Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005968","type":"entry-dictionary","title":"Temperature instability"},{"container-title":"HP:0005972","author":[{"family":"Acidosis because of respiratory retention of carbon dioxide."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005972","type":"entry-dictionary","title":"Respiratory acidosis"},{"container-title":"HP:0005973","author":[{"family":"Fructose intolerance"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005973","type":"entry-dictionary","title":"Fructose intolerance"},{"container-title":"HP:0005974","author":[{"family":"ketoacidosis, episodic"},{"family":"Intermittent episodes of ketoacidosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005974","type":"entry-dictionary","title":"Episodic ketoacidosis"},{"container-title":"HP:0005976","author":[{"family":"Hyperkalemic metabolic acidosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005976","type":"entry-dictionary","title":"Hyperkalemic metabolic acidosis"},{"container-title":"HP:0005977","author":[{"family":"Hypochloremic metabolic alkalosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005977","type":"entry-dictionary","title":"Hypochloremic metabolic alkalosis"},{"container-title":"HP:0005978","author":[{"family":"diabetes mellitus type ii"},{"family":"noninsulin dependent diabetes mellitus"},{"family":"type 2 diabetes"},{"family":"type ii diabetes"},{"family":"diabetes mellitus, noninsulin-dependent"},{"family":"non-insulin dependent diabetes"},{"family":"noninsulin-dependent diabetes mellitus"},{"family":"diabetes mellitus type 2"},{"family":"niddm diabetes mellitus"},{"family":"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005978","type":"entry-dictionary","title":"Type II diabetes mellitus"},{"container-title":"HP:0005979","author":[{"family":"Metabolic ketoacidosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005979","type":"entry-dictionary","title":"Metabolic ketoacidosis"},{"container-title":"HP:0005982","author":[{"family":"phenylalanine hydroxylase deficiency"},{"family":"A reduction in phenylalanine 4-monooxygenase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005982","type":"entry-dictionary","title":"Reduced phenylalanine hydroxylase activity"},{"container-title":"HP:0005984","author":[{"family":"An elevation of alpha-feto protein in the maternal serum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005984","type":"entry-dictionary","title":"Elevated maternal serum alpha-fetoprotein"},{"container-title":"HP:0005986","author":[{"family":"restricted neck movement"},{"family":"limited neck mobility"},{"family":"limitation of neck motion"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005986","type":"entry-dictionary","title":"Limitation of neck motion"},{"container-title":"HP:0005987","author":[{"family":"Enlargement of the thyroid gland related to multiple nodules in the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005987","type":"entry-dictionary","title":"Multinodular goiter"},{"container-title":"HP:0005988","author":[{"family":"torticollis, congenital"},{"family":"A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005988","type":"entry-dictionary","title":"Congenital muscular torticollis"},{"container-title":"HP:0005989","author":[{"family":"redundant skin folds of neck"},{"family":"redundant neck skin"},{"family":"redundant nuchal skin"},{"family":"excess neck skin"},{"family":"redundant skin over the neck"},{"family":"excess skin over the neck"},{"family":"Excess skin around the neck, often lying in horizontal folds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005989","type":"entry-dictionary","title":"Redundant neck skin"},{"container-title":"HP:0005990","author":[{"family":"hypoplastic thyroid"},{"family":"Developmental hypoplasia of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005990","type":"entry-dictionary","title":"Thyroid hypoplasia"},{"container-title":"HP:0005991","author":[{"family":"limited neck flexibility"},{"family":"limited cervical flexion"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005991","type":"entry-dictionary","title":"Limited neck flexion"},{"container-title":"HP:0005994","author":[{"family":"Enlargement of the thyroid gland related to one or more nodules in the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005994","type":"entry-dictionary","title":"Nodular goiter"},{"container-title":"HP:0005995","author":[{"family":"loss of fat around neck"},{"family":"loss of adipose tissue around the neck"},{"family":"Reduced amount of adipose tissue in the region of the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005995","type":"entry-dictionary","title":"Decreased adipose tissue around neck"},{"container-title":"HP:0005997","author":[{"family":"restricted neck movement due to contractures"},{"family":"restricted neck mobility due to contractures"},{"family":"neck flexion contracture"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005997","type":"entry-dictionary","title":"Restricted neck movement due to contractures"},{"container-title":"HP:0005999","author":[{"family":"The presence of atretic ureter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0005999","type":"entry-dictionary","title":"Ureteral atresia"},{"container-title":"HP:0006000","author":[{"family":"Obstruction of the flow of urine through the ureter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006000","type":"entry-dictionary","title":"Ureteral obstruction"},{"container-title":"HP:0006006","author":[{"family":"degeneration of small hand muscles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006006","type":"entry-dictionary","title":"Hypotrophy of the small hand muscles"},{"container-title":"HP:0006008","author":[{"family":"short digits on one side"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006008","type":"entry-dictionary","title":"Unilateral brachydactyly"},{"container-title":"HP:0006009","author":[{"family":"wide digital bones"},{"family":"broad phalanges"},{"family":"wide phalanges"},{"family":"widened phalanges"},{"family":"Increased side-to-side width of one or more phalanges of the fingers or toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006009","type":"entry-dictionary","title":"Broad phalanx"},{"container-title":"HP:0006011","author":[{"family":"short, cube shaped long bone of hand"},{"family":"Severely shortened metacarpal with a cuboidal appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006011","type":"entry-dictionary","title":"Cuboidal metacarpal"},{"container-title":"HP:0006012","author":[{"family":"broad shaft of long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006012","type":"entry-dictionary","title":"Widened metacarpal shaft"},{"container-title":"HP:0006014","author":[{"family":"abnormally shaped wrist bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006014","type":"entry-dictionary","title":"Abnormally shaped carpal bones"},{"container-title":"HP:0006016","author":[{"family":"delayed bone maturation of end part of digital bone"},{"family":"delayed phalangeal epiphyseal bone maturation"},{"family":"Delay in the process of formation and maturation of the epiphysis of one or more phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006016","type":"entry-dictionary","title":"Delayed phalangeal epiphyseal ossification"},{"container-title":"HP:0006019","author":[{"family":"decreased space in hinge joint"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006019","type":"entry-dictionary","title":"Reduced proximal interphalangeal joint space"},{"container-title":"HP:0006026","author":[{"family":"rounded end part of bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006026","type":"entry-dictionary","title":"Rounded epiphyses"},{"container-title":"HP:0006028","author":[{"family":"cupping of wide portion of long bone of hand"},{"family":"metacarpal\/metaphyseal cupping"},{"family":"Metaphyseal cupping affecting the metacarpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006028","type":"entry-dictionary","title":"Metaphyseal cupping of metacarpals"},{"container-title":"HP:0006035","author":[{"family":"cone-shaped end part of digital bones 2 to 5"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006035","type":"entry-dictionary","title":"Cone-shaped epiphyses of phalanges 2 to 5"},{"container-title":"HP:0006040","author":[{"family":"long 2nd long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006040","type":"entry-dictionary","title":"Long second metacarpal"},{"container-title":"HP:0006042","author":[{"family":"y-shaped long bone of hand"},{"family":"Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006042","type":"entry-dictionary","title":"Y-shaped metacarpals"},{"container-title":"HP:0006045","author":[{"family":"short pointed digital bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006045","type":"entry-dictionary","title":"Short pointed phalanges"},{"container-title":"HP:0006048","author":[{"family":"wide outermost end of long bone"},{"family":"Abnormal increase in width of the distal region of the metacarpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006048","type":"entry-dictionary","title":"Distal widening of metacarpals"},{"container-title":"HP:0006051","author":[{"family":"Metacarpal periosteal thickening"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006051","type":"entry-dictionary","title":"Metacarpal periosteal thickening"},{"container-title":"HP:0006055","author":[{"family":"Ulnar deviated club hands"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006055","type":"entry-dictionary","title":"Ulnar deviated club hands"},{"container-title":"HP:0006059","author":[{"family":"cone-shaped end part of long bone"},{"family":"metacarpal cone-shaped epiphyses"},{"family":"A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006059","type":"entry-dictionary","title":"Cone-shaped metacarpal epiphyses"},{"container-title":"HP:0006060","author":[{"family":"tombstone-shaped innermost digital bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006060","type":"entry-dictionary","title":"Tombstone-shaped proximal phalanges"},{"container-title":"HP:0006064","author":[{"family":"limited movement of hinge joints"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006064","type":"entry-dictionary","title":"Limited interphalangeal movement"},{"container-title":"HP:0006067","author":[{"family":"A delay in the process of formation and maturation of the epiphysis of one or more long bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006067","type":"entry-dictionary","title":"Multiple carpal ossification centers"},{"container-title":"HP:0006069","author":[{"family":"severe delay in maturation of wrist bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006069","type":"entry-dictionary","title":"Severe carpal ossification delay"},{"container-title":"HP:0006070","author":[{"family":"metacarpal\/phalangeal joint contractures"},{"family":"A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006070","type":"entry-dictionary","title":"Metacarpophalangeal joint contracture"},{"container-title":"HP:0006077","author":[{"family":"Absence of the proximal interphalangeal flexion creases of the fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006077","type":"entry-dictionary","title":"Absent proximal finger flexion creases"},{"container-title":"HP:0006086","author":[{"family":"Thin metacarpal cortices"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006086","type":"entry-dictionary","title":"Thin metacarpal cortices"},{"container-title":"HP:0006088","author":[{"family":"webbed 1-5 fingers"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006088","type":"entry-dictionary","title":"1-5 finger complete cutaneous syndactyly"},{"container-title":"HP:0006089","author":[{"family":"excessive sweating of hands"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006089","type":"entry-dictionary","title":"Palmar hyperhidrosis"},{"container-title":"HP:0006092","author":[{"family":"incorrect alignment of wrist bone"},{"family":"Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006092","type":"entry-dictionary","title":"Malaligned carpal bone"},{"container-title":"HP:0006094","author":[{"family":"increased mobility in finger joint"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006094","type":"entry-dictionary","title":"Finger joint hypermobility"},{"container-title":"HP:0006095","author":[{"family":"wide tips of outermost digital bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006095","type":"entry-dictionary","title":"Wide tufts of distal phalanges"},{"container-title":"HP:0006097","author":[{"family":"partial or complete syndactyly 3rd-4th fingers"},{"family":"webbed 3rd-4th fingers"},{"family":"Syndactyly with fusion of fingers three and four."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006097","type":"entry-dictionary","title":"3-4 finger syndactyly"},{"container-title":"HP:0006099","author":[{"family":"Increased mobility of one ore more metacarpophalangeal joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006099","type":"entry-dictionary","title":"Metacarpophalangeal joint hyperextensibility"},{"container-title":"HP:0006101","author":[{"family":"partial syndactyly"},{"family":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as \"Symphalangism\"."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006101","type":"entry-dictionary","title":"Finger syndactyly"},{"container-title":"HP:0006106","author":[{"family":"Absent trapezoid bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006106","type":"entry-dictionary","title":"Absent trapezoid bone"},{"container-title":"HP:0006107","author":[{"family":"finger pad telangiectases"},{"family":"small dilated blood vessels in fingerpads"},{"family":"Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006107","type":"entry-dictionary","title":"Fingerpad telangiectases"},{"container-title":"HP:0006108","author":[{"family":"tapered long bones of hand"},{"family":"Metacarpal that becomes thinner toward the distal end."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006108","type":"entry-dictionary","title":"Tapered metacarpals"},{"container-title":"HP:0006109","author":[{"family":"absent interphalangeal creases"},{"family":"aplasia of the interphalangeal creases"},{"family":"Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006109","type":"entry-dictionary","title":"Absent phalangeal crease"},{"container-title":"HP:0006110","author":[{"family":"shortened middle finger bones"},{"family":"disproportionately short middle phalanges"},{"family":"Short (hypoplastic middle phalanx of finger, affecting all fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006110","type":"entry-dictionary","title":"Shortening of all middle phalanges of the fingers"},{"container-title":"HP:0006112","author":[{"family":"Expanded phalanges with widened medullary cavities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006112","type":"entry-dictionary","title":"Expanded phalanges with widened medullary cavities"},{"container-title":"HP:0006114","author":[{"family":"multiple palm lines"},{"family":"The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006114","type":"entry-dictionary","title":"Multiple palmar creases"},{"container-title":"HP:0006118","author":[{"family":"brachytelephalangy"},{"family":"shortening of all outermost bones of the fingers"},{"family":"Hypoplasia of all of the distal phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006118","type":"entry-dictionary","title":"Shortening of all distal phalanges of the fingers"},{"container-title":"HP:0006119","author":[{"family":"pointed proximal metacarpals"},{"family":"pointed innermost long bone of hand"},{"family":"Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006119","type":"entry-dictionary","title":"Proximal tapering of metacarpals"},{"container-title":"HP:0006121","author":[{"family":"Acral ulceration leading to autoamputation of digits"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006121","type":"entry-dictionary","title":"Acral ulceration leading to autoamputation of digits"},{"container-title":"HP:0006127","author":[{"family":"long innermost finger bone"},{"family":"Increased length of the proximal phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006127","type":"entry-dictionary","title":"Long proximal phalanx of finger"},{"container-title":"HP:0006129","author":[{"family":"drumstick shaped digital bones"},{"family":"Rounding and broadening of the tufts of the distal phalanges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006129","type":"entry-dictionary","title":"Drumstick terminal phalanges"},{"container-title":"HP:0006134","author":[{"family":"enlarged end part of long bone of hand"},{"family":"Abnormally large size of the metaphyseal epiphyses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006134","type":"entry-dictionary","title":"Enlarged metacarpal epiphyses"},{"container-title":"HP:0006135","author":[{"family":"decreased finger movement"},{"family":"decreased finger mobility"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006135","type":"entry-dictionary","title":"Decreased finger mobility"},{"container-title":"HP:0006136","author":[{"family":"Bilateral postaxial polydactyly"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006136","type":"entry-dictionary","title":"Bilateral postaxial polydactyly"},{"container-title":"HP:0006140","author":[{"family":"premature fusion of end part of digital bone"},{"family":"Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006140","type":"entry-dictionary","title":"Premature fusion of phalangeal epiphyses"},{"container-title":"HP:0006143","author":[{"family":"Abnormal finger flexion creases"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006143","type":"entry-dictionary","title":"Abnormal finger flexion creases"},{"container-title":"HP:0006144","author":[{"family":"shortening of all innermost bones of the fingers"},{"family":"Congenital hypoplasia of proximal phalanx of finger of all fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006144","type":"entry-dictionary","title":"Shortening of all proximal phalanges of the fingers"},{"container-title":"HP:0006145","author":[{"family":"y-shaped central long bones of hand"},{"family":"A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006145","type":"entry-dictionary","title":"Central Y-shaped metacarpal"},{"container-title":"HP:0006146","author":[{"family":"broad end part of long bone of hand"},{"family":"Increased side-to-side width of the metacarpal epiphyses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006146","type":"entry-dictionary","title":"Broad metacarpal epiphyses"},{"container-title":"HP:0006147","author":[{"family":"Progressive fusion 2nd-5th pip joints"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006147","type":"entry-dictionary","title":"Progressive fusion 2nd-5th pip joints"},{"container-title":"HP:0006149","author":[{"family":"Increased laxity of fingers"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006149","type":"entry-dictionary","title":"Increased laxity of fingers"},{"container-title":"HP:0006150","author":[{"family":"A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006150","type":"entry-dictionary","title":"Swan neck-like deformities of the fingers"},{"container-title":"HP:0006152","author":[{"family":"fused innermost hinge joints"},{"family":"proximal interphalangeal joint synostoses"},{"family":"The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006152","type":"entry-dictionary","title":"Proximal symphalangism of hands"},{"container-title":"HP:0006153","author":[{"family":"disharmonious wrist bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006153","type":"entry-dictionary","title":"Disharmonious carpal bone"},{"container-title":"HP:0006155","author":[{"family":"long finger bone"},{"family":"Increased length of multiple or a single phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006155","type":"entry-dictionary","title":"Long phalanx of finger"},{"container-title":"HP:0006156","author":[{"family":"ulnar deviation of the 1st finger"},{"family":"curved thumb deviated towards palm"},{"family":"Bending or curvature of a thumb towards the ulnar side (towards the ring finger)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006156","type":"entry-dictionary","title":"Ulnar deviation of thumb"},{"container-title":"HP:0006157","author":[{"family":"prominent life line"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006157","type":"entry-dictionary","title":"Prominent palmar flexion creases"},{"container-title":"HP:0006159","author":[{"family":"central hand polydactyly"},{"family":"interdigital finger polydactyly"},{"family":"The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006159","type":"entry-dictionary","title":"Mesoaxial hand polydactyly"},{"container-title":"HP:0006160","author":[{"family":"irregular long bones of hand"},{"family":"Irregular morphology of one or more metacarpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006160","type":"entry-dictionary","title":"Irregular metacarpals"},{"container-title":"HP:0006161","author":[{"family":"short long bone of hand with rounded innermost ends"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006161","type":"entry-dictionary","title":"Short metacarpals with rounded proximal ends"},{"container-title":"HP:0006162","author":[{"family":"soft tissue swelling of hinge 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osteolysis"},{"container-title":"HP:0006450","author":[{"family":"Multicentric ossification of proximal femoral epiphyses"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006450","type":"entry-dictionary","title":"Multicentric ossification of proximal femoral epiphyses"},{"container-title":"HP:0006453","author":[{"family":"laterally displaced femoral heads"},{"family":"A developmental anomaly with lateral displacement of the femoral head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006453","type":"entry-dictionary","title":"Lateral displacement of the femoral head"},{"container-title":"HP:0006454","author":[{"family":"delayed patellae ossification"},{"family":"delayed bone maturation of the knee cap"},{"family":"Formation of bone in the patella later than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006454","type":"entry-dictionary","title":"Delayed patellar ossification"},{"container-title":"HP:0006456","author":[{"family":"irregular innermost shinbone end 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failure to form) or underdevelopment of the bones of the upper limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006496","type":"entry-dictionary","title":"Aplasia\/hypoplasia involving bones of the upper limbs"},{"container-title":"HP:0006498","author":[{"family":"absent\/small kneecap"},{"family":"hypoplastic or absent patella"},{"family":"patellar aplasia\/hypoplasia"},{"family":"absent or hypoplastic patellae"},{"family":"absent\/hypoplastic patella"},{"family":"absent\/underdeveloped kneecap"},{"family":"small to absent patellae"},{"family":"aplastic or hypoplastic patellae"},{"family":"Absence or underdevelopment of the patella."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006498","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the patella"},{"container-title":"HP:0006499","author":[{"family":"abnormality of thighbone end part"},{"family":"An anomaly of a growth plate of a 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end part of limb bones"},{"family":"abnormality involving the epiphyses of the limbs"},{"family":"An anomaly of one or more epiphyses of a limb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006505","type":"entry-dictionary","title":"Abnormality of limb epiphysis morphology"},{"container-title":"HP:0006507","author":[{"family":"absent\/small long bone in upper arm"},{"family":"absent\/underdeveloped long bone in upper arm"},{"family":"Absence (due to failure to form) or underdevelopment of the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006507","type":"entry-dictionary","title":"Aplasia\/hypoplasia of the humerus"},{"container-title":"HP:0006508","author":[{"family":"abnormality of end part of shinbone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006508","type":"entry-dictionary","title":"Abnormality of tibial epiphyses"},{"container-title":"HP:0006509","author":[{"family":"tracheal 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This results in gas exchange impairment leading to dyspnea and alveolar infiltrates."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006517","type":"entry-dictionary","title":"Alveolar proteinosis"},{"container-title":"HP:0006518","author":[{"family":"pulmonary venoocclusive disease"},{"family":"Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006518","type":"entry-dictionary","title":"Pulmonary venous occlusion"},{"container-title":"HP:0006519","author":[{"family":"Adenocarcinoma of the Bronchus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006519","type":"entry-dictionary","title":"Alveolar cell carcinoma"},{"container-title":"HP:0006520","author":[{"family":"Progressive pulmonary function impairment"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006520","type":"entry-dictionary","title":"Progressive pulmonary function impairment"},{"container-title":"HP:0006521","author":[{"family":"pulmonary lymphangiectasis"},{"family":"Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006521","type":"entry-dictionary","title":"Pulmonary lymphangiectasia"},{"container-title":"HP:0006522","author":[{"family":"repeated pneumothorax"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006522","type":"entry-dictionary","title":"Repeated pneumothoraces"},{"container-title":"HP:0006524","author":[{"family":"Tracheobronchial leiomyomatosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006524","type":"entry-dictionary","title":"Tracheobronchial leiomyomatosis"},{"container-title":"HP:0006527","author":[{"family":"lymphoid interstitial pneumonitis"},{"family":"A lymphocyte-predominant infiltration of the lungs characterized by bibasilar pulmonary infiltrates with dense interstitial accumulations of lymphocytes and plasma 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pneumonia"},{"container-title":"HP:0006533","author":[{"family":"Bronchodysplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006533","type":"entry-dictionary","title":"Bronchodysplasia"},{"container-title":"HP:0006535","author":[{"family":"recurrent pulmonary hemorrhage"},{"family":"recurrent bleeding into lungs"},{"family":"A recurrent hemorrhage occurring within the lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006535","type":"entry-dictionary","title":"Recurrent intrapulmonary hemorrhage"},{"container-title":"HP:0006536","author":[{"family":"obstructive lung disease"},{"family":"Obstruction of conducting airways of the lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006536","type":"entry-dictionary","title":"Obstructive lung disease"},{"container-title":"HP:0006538","author":[{"family":"recurrent infections in bronchi and lungs"},{"family":"An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary 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or below the diaphragm, and without communication with the tracheobronchial tree."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006544","type":"entry-dictionary","title":"Extrapulmonary sequestrum"},{"container-title":"HP:0006548","author":[{"family":"pulmonary av malformation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006548","type":"entry-dictionary","title":"Pulmonary arteriovenous malformation"},{"container-title":"HP:0006549","author":[{"family":"primary pulmonary dysgenesis, unilateral"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006549","type":"entry-dictionary","title":"Unilateral primary pulmonary dysgenesis"},{"container-title":"HP:0006552","author":[{"family":"Fibrocystic lung disease"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006552","type":"entry-dictionary","title":"Fibrocystic lung disease"},{"container-title":"HP:0006554","author":[{"family":"acute liver failure"},{"family":"Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006554","type":"entry-dictionary","title":"Acute hepatic failure"},{"container-title":"HP:0006555","author":[{"family":"hepatic steatosis, diffuse"},{"family":"A diffuse form of hepatic steatosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006555","type":"entry-dictionary","title":"Diffuse hepatic steatosis"},{"container-title":"HP:0006557","author":[{"family":"Polycystic liver disease"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006557","type":"entry-dictionary","title":"Polycystic liver disease"},{"container-title":"HP:0006558","author":[{"family":"Decreased activity of complex II Of the mitochondrion in the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006558","type":"entry-dictionary","title":"Decreased mitochondrial complex III activity in liver 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virus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006562","type":"entry-dictionary","title":"Viral hepatitis"},{"container-title":"HP:0006563","author":[{"family":"Malformation of the hepatic ductal plate"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006563","type":"entry-dictionary","title":"Malformation of the hepatic ductal plate"},{"container-title":"HP:0006564","author":[{"family":"Intermittently increased size of the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006564","type":"entry-dictionary","title":"Fluctuating hepatomegaly"},{"container-title":"HP:0006565","author":[{"family":"An abnormal increase in the amount of intracellular lipid droplets in hepatocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006565","type":"entry-dictionary","title":"Increased hepatocellular lipid droplets"},{"container-title":"HP:0006566","author":[{"family":"Neonatal cholestatic liver disease"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006566","type":"entry-dictionary","title":"Neonatal cholestatic liver disease"},{"container-title":"HP:0006568","author":[{"family":"increased liver glycogen content"},{"family":"An increase in the amount of glycogen stored in hepatocytes compared to normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006568","type":"entry-dictionary","title":"Increased hepatic glycogen content"},{"container-title":"HP:0006571","author":[{"family":"hepatic ductopenia"},{"family":"intrahepatic duct deficiency"},{"family":"The presence of reduced numbers of intrahepatic bile duct than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006571","type":"entry-dictionary","title":"Reduced number of intrahepatic bile ducts"},{"container-title":"HP:0006572","author":[{"family":"Subacute progressive viral hepatitis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006572","type":"entry-dictionary","title":"Subacute progressive viral hepatitis"},{"container-title":"HP:0006573","author":[{"family":"acute fatty liver"},{"family":"An acute form of hepatic steatosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006573","type":"entry-dictionary","title":"Acute hepatic steatosis"},{"container-title":"HP:0006574","author":[{"family":"liver arteriovenous malformation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006574","type":"entry-dictionary","title":"Hepatic arteriovenous malformation"},{"container-title":"HP:0006575","author":[{"family":"Intrahepatic cholestasis with episodic jaundice"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006575","type":"entry-dictionary","title":"Intrahepatic cholestasis with episodic jaundice"},{"container-title":"HP:0006576","author":[{"family":"liver vascular malformations"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006576","type":"entry-dictionary","title":"Hepatic vascular malformations"},{"container-title":"HP:0006577","author":[{"family":"A type of cirrhosis characterized by the presence of large regenerative nodules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006577","type":"entry-dictionary","title":"Macronodular cirrhosis"},{"container-title":"HP:0006579","author":[{"family":"jaundice, neonatal"},{"family":"prolonged yellowing of skin in newborn"},{"family":"neonatal jaundice"},{"family":"Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006579","type":"entry-dictionary","title":"Prolonged neonatal jaundice"},{"container-title":"HP:0006580","author":[{"family":"portal fibrosis shown on biopsy"},{"family":"Fibroblast proliferation and fiber expansion from the portal areas to the lobule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006580","type":"entry-dictionary","title":"Portal fibrosis"},{"container-title":"HP:0006581","author":[{"family":"An abnormal reduction in the number of mitochondria in hepatocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006581","type":"entry-dictionary","title":"Depletion of mitochondrial DNA in liver"},{"container-title":"HP:0006582","author":[{"family":"Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006582","type":"entry-dictionary","title":"Reye syndrome-like episodes"},{"container-title":"HP:0006583","author":[{"family":"fatal liver failure in infancy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006583","type":"entry-dictionary","title":"Fatal liver failure in infancy"},{"container-title":"HP:0006584","author":[{"family":"small abnormally formed scapula"},{"family":"small abnormally formed shoulder blade"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006584","type":"entry-dictionary","title":"Small abnormally formed scapulae"},{"container-title":"HP:0006585","author":[{"family":"clavicle pseudoarthrosis"},{"family":"bipartite clavicle"},{"family":"pseudoarthrosis of clavicle"},{"family":"The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006585","type":"entry-dictionary","title":"Congenital pseudoarthrosis of the clavicle"},{"container-title":"HP:0006587","author":[{"family":"straight collarbone"},{"family":"An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved ."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006587","type":"entry-dictionary","title":"Straight clavicles"},{"container-title":"HP:0006589","author":[{"family":"flaring of lower rib cage"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006589","type":"entry-dictionary","title":"Flaring of lower rib cage"},{"container-title":"HP:0006590","author":[{"family":"prematurely closed sternal sutures"},{"family":"Prematurely closed sternal sutures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006590","type":"entry-dictionary","title":"Premature sternal synostosis"},{"container-title":"HP:0006591","author":[{"family":"aplasia of the glenoid fossa"},{"family":"Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006591","type":"entry-dictionary","title":"Absent glenoid fossa"},{"container-title":"HP:0006593","author":[{"family":"Anomalous rib insertion to vertebrae"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006593","type":"entry-dictionary","title":"Anomalous rib insertion to vertebrae"},{"container-title":"HP:0006595","author":[{"family":"humero-scapulo synostosis"},{"family":"fusion of shoulder blade to long bone in upper arm"},{"family":"humeroscapular synostosis"},{"family":"synostosis of shoulder joint"},{"family":"Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006595","type":"entry-dictionary","title":"Scapulohumeral synostosis"},{"container-title":"HP:0006596","author":[{"family":"restricted chest movement"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006596","type":"entry-dictionary","title":"Restricted chest movement"},{"container-title":"HP:0006597","author":[{"family":"diaphragmatic paralysis"},{"family":"paralyzed diaphragm"},{"family":"The presence of a paralyzed diaphragm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006597","type":"entry-dictionary","title":"Diaphragmatic paralysis"},{"container-title":"HP:0006598","author":[{"family":"Irregular ossification at anterior rib ends"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006598","type":"entry-dictionary","title":"Irregular ossification at anterior rib ends"},{"container-title":"HP:0006599","author":[{"family":"Medial widening of clavicles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006599","type":"entry-dictionary","title":"Medial widening of clavicles"},{"container-title":"HP:0006600","author":[{"family":"Progressive calcification of costochondral cartilage"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006600","type":"entry-dictionary","title":"Progressive calcification of costochondral cartilage"},{"container-title":"HP:0006603","author":[{"family":"flared, irregular rib ends"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006603","type":"entry-dictionary","title":"Flared, irregular rib ends"},{"container-title":"HP:0006606","author":[{"family":"irregular costochondral margins"},{"family":"Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006606","type":"entry-dictionary","title":"Irregular chondrocostal junctions"},{"container-title":"HP:0006607","author":[{"family":"Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006607","type":"entry-dictionary","title":"Precocious costochondral ossification"},{"container-title":"HP:0006608","author":[{"family":"underdeveloped middle portion of the collarbone"},{"family":"Underdevelopment of the middle portion of the clavicle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006608","type":"entry-dictionary","title":"Midclavicular hypoplasia"},{"container-title":"HP:0006610","author":[{"family":"widely spaced nipples"},{"family":"widely-spaced nipples"},{"family":"wide-spaced nipples"},{"family":"A larger than usual distance between the left and right nipple."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006610","type":"entry-dictionary","title":"Wide intermamillary distance"},{"container-title":"HP:0006611","author":[{"family":"A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006611","type":"entry-dictionary","title":"Decreased number of sternal ossification centers"},{"container-title":"HP:0006615","author":[{"family":"absent rib calcification in utero"},{"family":"Lack of formation and mineralization of the ribs in utero."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006615","type":"entry-dictionary","title":"Absent in utero rib ossification"},{"container-title":"HP:0006619","author":[{"family":"Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006619","type":"entry-dictionary","title":"Anterior rib punctate calcifications"},{"container-title":"HP:0006623","author":[{"family":"sclerotic costochondral joints"},{"family":"Abnormal increase in density of the tissue at the costochondral junctions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006623","type":"entry-dictionary","title":"Costochondral joint sclerosis"},{"container-title":"HP:0006625","author":[{"family":"multifocal breast cancer"},{"family":"Breast carcinoma that is bilateral or otherwise multifocal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006625","type":"entry-dictionary","title":"Multifocal breast carcinoma"},{"container-title":"HP:0006628","author":[{"family":"absent sternal mineralization"},{"family":"lack of sternal ossification"},{"family":"absent bone maturation in sternum"},{"family":"Lack of formation of mineralized bony tissue of the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006628","type":"entry-dictionary","title":"Absent sternal ossification"},{"container-title":"HP:0006631","author":[{"family":"small distal segments of the shoulder blade"},{"family":"small outermost segments of shoulder blade"},{"family":"underdeveloped outermost segments of shoulder blade"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006631","type":"entry-dictionary","title":"Hypoplastic distal segments of scapulae"},{"container-title":"HP:0006633","author":[{"family":"glenoid hypoplasia"},{"family":"hypoplastic glenoid fossa"},{"family":"Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006633","type":"entry-dictionary","title":"Glenoid fossa hypoplasia"},{"container-title":"HP:0006634","author":[{"family":"increased bone density in ribs"},{"family":"Osteosclerosis of ribs (increased density related to increased bone mass)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006634","type":"entry-dictionary","title":"Osteosclerosis of ribs"},{"container-title":"HP:0006637","author":[{"family":"Sternal punctate calcifications"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006637","type":"entry-dictionary","title":"Sternal punctate calcifications"},{"container-title":"HP:0006638","author":[{"family":"missing middle part of collarbone"},{"family":"Developmental defect resulting in congenital absence of the middle portion of the clavicle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006638","type":"entry-dictionary","title":"Midclavicular aplasia"},{"container-title":"HP:0006640","author":[{"family":"multiple rib fractures"},{"family":"More than one fracture of the ribs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006640","type":"entry-dictionary","title":"Multiple rib fractures"},{"container-title":"HP:0006641","author":[{"family":"prominent floating ribs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006641","type":"entry-dictionary","title":"Prominent floating ribs"},{"container-title":"HP:0006642","author":[{"family":"Large sternal ossification centers"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006642","type":"entry-dictionary","title":"Large sternal ossification centers"},{"container-title":"HP:0006643","author":[{"family":"Fused sternal ossification centers"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006643","type":"entry-dictionary","title":"Fused sternal ossification centers"},{"container-title":"HP:0006644","author":[{"family":"Thoracic dysplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006644","type":"entry-dictionary","title":"Thoracic dysplasia"},{"container-title":"HP:0006645","author":[{"family":"thin collarbone"},{"family":"Abnormally reduced diameter (cross section) of the clavicles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006645","type":"entry-dictionary","title":"Thin clavicles"},{"container-title":"HP:0006646","author":[{"family":"cartilaginous ossification of rib"},{"family":"Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006646","type":"entry-dictionary","title":"Costal cartilage calcification"},{"container-title":"HP:0006647","author":[{"family":"Congenital microthorax"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006647","type":"entry-dictionary","title":"Congenital microthorax"},{"container-title":"HP:0006649","author":[{"family":"costochondral junction pain"},{"family":"Chest wall pain in the area of the costochondral junctions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006649","type":"entry-dictionary","title":"Costochondral pain"},{"container-title":"HP:0006650","author":[{"family":"thickening of the lateral border of the shoulder blade"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006650","type":"entry-dictionary","title":"Thickening of the lateral border of the scapula"},{"container-title":"HP:0006655","author":[{"family":"Rib segmentation abnormalities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006655","type":"entry-dictionary","title":"Rib segmentation abnormalities"},{"container-title":"HP:0006657","author":[{"family":"hypoplastic first ribs"},{"family":"small first rib"},{"family":"underdeveloped first rib"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006657","type":"entry-dictionary","title":"Hypoplasia of first ribs"},{"container-title":"HP:0006659","author":[{"family":"internally rotated shoulders"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006659","type":"entry-dictionary","title":"Internally rotated shoulders"},{"container-title":"HP:0006660","author":[{"family":"absent clavicles"},{"family":"absent collarbone"},{"family":"Absence of the clavicles as a developmental defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006660","type":"entry-dictionary","title":"Aplastic clavicles"},{"container-title":"HP:0006665","author":[{"family":"coat hanger sign of ribs"},{"family":"An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006665","type":"entry-dictionary","title":"Coat hanger sign of ribs"},{"container-title":"HP:0006668","author":[{"family":"small twelfth rib"},{"family":"underdeveloped twelfth rib"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006668","type":"entry-dictionary","title":"Twelfth rib hypoplasia"},{"container-title":"HP:0006670","author":[{"family":"Impaired myocardial contractility"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006670","type":"entry-dictionary","title":"Impaired myocardial contractility"},{"container-title":"HP:0006671","author":[{"family":"Paroxysmal atrial tachycardia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006671","type":"entry-dictionary","title":"Paroxysmal atrial tachycardia"},{"container-title":"HP:0006673","author":[{"family":"Reduced systolic function"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006673","type":"entry-dictionary","title":"Reduced systolic function"},{"container-title":"HP:0006677","author":[{"family":"prolonged qrs complex on ekg"},{"family":"Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006677","type":"entry-dictionary","title":"Prolonged QRS complex"},{"container-title":"HP:0006679","author":[{"family":"Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006679","type":"entry-dictionary","title":"Granulomatous coronary arteritis"},{"container-title":"HP:0006681","author":[{"family":"Absent atrioventricular node"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006681","type":"entry-dictionary","title":"Absent atrioventricular node"},{"container-title":"HP:0006682","author":[{"family":"extra heart beat"},{"family":"missed heartbeat"},{"family":"premature ventricular contractions"},{"family":"skipped heartbeat"},{"family":"Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006682","type":"entry-dictionary","title":"Ventricular extrasystoles"},{"container-title":"HP:0006683","author":[{"family":"An abnormality of filling of a ventricle with blood during diastole."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006683","type":"entry-dictionary","title":"Abnormal ventricular filling"},{"container-title":"HP:0006684","author":[{"family":"A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006684","type":"entry-dictionary","title":"Ventricular preexcitation with multiple accessory pathways"},{"container-title":"HP:0006685","author":[{"family":"endomyocardial fibrosis"},{"family":"The presence of excessive connective tissue in the endocardium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006685","type":"entry-dictionary","title":"Endocardial fibrosis"},{"container-title":"HP:0006687","author":[{"family":"Abnormal tortuous (i.e., twisted) form of the aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006687","type":"entry-dictionary","title":"Aortic tortuosity"},{"container-title":"HP:0006688","author":[{"family":"Paroxysmal tachycardia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006688","type":"entry-dictionary","title":"Paroxysmal tachycardia"},{"container-title":"HP:0006689","author":[{"family":"infective endocarditis"},{"family":"A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006689","type":"entry-dictionary","title":"Bacterial endocarditis"},{"container-title":"HP:0006690","author":[{"family":"calcified myocardium"},{"family":"Calcium deposition in the myocardium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006690","type":"entry-dictionary","title":"Myocardial calcification"},{"container-title":"HP:0006691","author":[{"family":"Pulmonic valve myxoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006691","type":"entry-dictionary","title":"Pulmonic valve myxoma"},{"container-title":"HP:0006692","author":[{"family":"Abnormally short chordae tendineae of the tricuspid valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006692","type":"entry-dictionary","title":"Short chordae tendineae of the tricuspid valve"},{"container-title":"HP:0006693","author":[{"family":"Steatosis in the myocardium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006693","type":"entry-dictionary","title":"Myocardial steatosis"},{"container-title":"HP:0006694","author":[{"family":"Early progressive calcific cardiac valvular disease"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006694","type":"entry-dictionary","title":"Early progressive calcific cardiac valvular disease"},{"container-title":"HP:0006695","author":[{"family":"endocardial cushion defect"},{"family":"atrioventricular septal defect"},{"family":"A defect of the atrioventricular septum of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006695","type":"entry-dictionary","title":"Atrioventricular canal defect"},{"container-title":"HP:0006696","author":[{"family":"Polymorphic and polytopic ventricular extrasystoles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006696","type":"entry-dictionary","title":"Polymorphic and polytopic ventricular extrasystoles"},{"container-title":"HP:0006698","author":[{"family":"ventricular aneurysm"},{"family":"A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006698","type":"entry-dictionary","title":"Dilatation of the ventricular cavity"},{"container-title":"HP:0006699","author":[{"family":"ectopic supraventricular rhythms"},{"family":"pacs"},{"family":"atrial ectopic beats"},{"family":"atrial premature complex"},{"family":"premature supraventricular beats"},{"family":"A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006699","type":"entry-dictionary","title":"Premature atrial contractions"},{"container-title":"HP:0006702","author":[{"family":"Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006702","type":"entry-dictionary","title":"Coronary artery dissection"},{"container-title":"HP:0006703","author":[{"family":"absent\/small lungs"},{"family":"absent\/underdeveloped lungs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006703","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the lungs"},{"container-title":"HP:0006704","author":[{"family":"Any structural abnormality of the coronary arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006704","type":"entry-dictionary","title":"Abnormal coronary artery morphology"},{"container-title":"HP:0006705","author":[{"family":"abnormality of the atrioventricular valves"},{"family":"An abnormality of an atrioventricular valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006705","type":"entry-dictionary","title":"Abnormal atrioventricular valve morphology"},{"container-title":"HP:0006706","author":[{"family":"Cystic liver disease"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006706","type":"entry-dictionary","title":"Cystic liver disease"},{"container-title":"HP:0006707","author":[{"family":"abnormality of the liver vasculature"},{"family":"abnormality of liver blood vessels"},{"family":"An abnormality of the hepatic vasculature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006707","type":"entry-dictionary","title":"Abnormality of the hepatic vasculature"},{"container-title":"HP:0006709","author":[{"family":"nipples absent or rudimentary"},{"family":"absent\/underdeveloped nipples"},{"family":"absent\/rudimentary nipples"},{"family":"absent\/small nipples"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006709","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the nipples"},{"container-title":"HP:0006710","author":[{"family":"absent\/small collarbone"},{"family":"absent\/underdeveloped collarbone"},{"family":"Absence or underdevelopment of the clavicles (collar bones)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006710","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the clavicles"},{"container-title":"HP:0006711","author":[{"family":"absent\/small outermost thorax bone"},{"family":"absent\/underdeveloped thorax bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006711","type":"entry-dictionary","title":"Aplasia\/Hypoplasia involving bones of the thorax"},{"container-title":"HP:0006712","author":[{"family":"absent\/underdeveloped ribs"},{"family":"absent\/small ribs"},{"family":"hypoplastic or missing ribs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006712","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the ribs"},{"container-title":"HP:0006713","author":[{"family":"absent\/underdeveloped shoulder blade"},{"family":"absent\/small shoulder blade"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006713","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the scapulae"},{"container-title":"HP:0006714","author":[{"family":"absent\/underdeveloped sternum"},{"family":"absent\/small sternum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006714","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the sternum"},{"container-title":"HP:0006715","author":[{"family":"tympanic nerve tumors"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006715","type":"entry-dictionary","title":"Glomus tympanicum paraganglioma"},{"container-title":"HP:0006716","author":[{"family":"Hereditary nonpolyposis colorectal carcinoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006716","type":"entry-dictionary","title":"Hereditary nonpolyposis colorectal carcinoma"},{"container-title":"HP:0006717","author":[{"family":"Peripheral neuroepithelioma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006717","type":"entry-dictionary","title":"Peripheral neuroepithelioma"},{"container-title":"HP:0006719","author":[{"family":"non-cancerous gi tumors"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006719","type":"entry-dictionary","title":"Benign gastrointestinal tract tumors"},{"container-title":"HP:0006721","author":[{"family":"acute lymphatic leukemia"},{"family":"acute lymphocytic leukemia"},{"family":"acute lymphoid leukemia"},{"family":"A form of acute leukemia characterized by excess lympoblasts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006721","type":"entry-dictionary","title":"Acute lymphoblastic leukemia"},{"container-title":"HP:0006722","author":[{"family":"Small intestine carcinoid"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006722","type":"entry-dictionary","title":"Small intestine carcinoid"},{"container-title":"HP:0006723","author":[{"family":"Intestinal carcinoid"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006723","type":"entry-dictionary","title":"Intestinal carcinoid"},{"container-title":"HP:0006725","author":[{"family":"The presence of an adenocarcinoma of the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006725","type":"entry-dictionary","title":"Pancreatic adenocarcinoma"},{"container-title":"HP:0006727","author":[{"family":"Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006727","type":"entry-dictionary","title":"T-cell acute lymphoblastic leukemias"},{"container-title":"HP:0006729","author":[{"family":"Retroperitoneal chemodectomas"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006729","type":"entry-dictionary","title":"Retroperitoneal chemodectomas"},{"container-title":"HP:0006731","author":[{"family":"The presence of an follicular adenocarcinoma of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006731","type":"entry-dictionary","title":"Follicular thyroid carcinoma"},{"container-title":"HP:0006732","author":[{"family":"A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006732","type":"entry-dictionary","title":"Papillary renal cell carcinoma type 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The single midline ventricle is often greatly enlarged."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006988","type":"entry-dictionary","title":"Alobar holoprosencephaly"},{"container-title":"HP:0006989","author":[{"family":"dysgenesis of corpus callosum"},{"family":"dysplasia of corpus callosum"},{"family":"Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006989","type":"entry-dictionary","title":"Dysplastic corpus callosum"},{"container-title":"HP:0006990","author":[{"family":"A type of gliosis that occurs in the vicinity of injured neurons."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006990","type":"entry-dictionary","title":"Myelin-dependent gliosis"},{"container-title":"HP:0006992","author":[{"family":"Anterior basal encephalocele"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006992","type":"entry-dictionary","title":"Anterior basal encephalocele"},{"container-title":"HP:0006994","author":[{"family":"Diffuse leukoencephalopathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006994","type":"entry-dictionary","title":"Diffuse leukoencephalopathy"},{"container-title":"HP:0006999","author":[{"family":"gliosis in the basal ganglia"},{"family":"Focal proliferation of glial cells in the basal ganglia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0006999","type":"entry-dictionary","title":"Basal ganglia gliosis"},{"container-title":"HP:0007000","author":[{"family":"Morning myoclonic jerks"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007000","type":"entry-dictionary","title":"Morning myoclonic jerks"},{"container-title":"HP:0007001","author":[{"family":"Loss of Purkinje cells in the cerebellar vermis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007001","type":"entry-dictionary","title":"Loss of Purkinje cells in the cerebellar vermis"},{"container-title":"HP:0007002","author":[{"family":"length dependent motor neuropathy"},{"family":"distal motor neuropathy"},{"family":"Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007002","type":"entry-dictionary","title":"Motor axonal neuropathy"},{"container-title":"HP:0007006","author":[{"family":"Dorsal column degeneration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007006","type":"entry-dictionary","title":"Dorsal column degeneration"},{"container-title":"HP:0007007","author":[{"family":"The formation of small cavities in the tissue of the basal ganglia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007007","type":"entry-dictionary","title":"Cavitation of the basal ganglia"},{"container-title":"HP:0007009","author":[{"family":"Central nervous system degeneration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007009","type":"entry-dictionary","title":"Central nervous system degeneration"},{"container-title":"HP:0007010","author":[{"family":"fine motor disability"},{"family":"fine motor skill dysfunction"},{"family":"fine motor impairment"},{"family":"impaired fine fotor skills"},{"family":"An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007010","type":"entry-dictionary","title":"Poor fine motor coordination"},{"container-title":"HP:0007011","author":[{"family":"trochlear nerve palsy"},{"family":"Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007011","type":"entry-dictionary","title":"Fourth cranial nerve palsy"},{"container-title":"HP:0007015","author":[{"family":"gross motor impairment"},{"family":"An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007015","type":"entry-dictionary","title":"Poor gross motor coordination"},{"container-title":"HP:0007016","author":[{"family":"Corticospinal tract hypoplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007016","type":"entry-dictionary","title":"Corticospinal tract hypoplasia"},{"container-title":"HP:0007017","author":[{"family":"forgetfullness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007017","type":"entry-dictionary","title":"Progressive forgetfulness"},{"container-title":"HP:0007018","author":[{"family":"attention deficit-hyperactivity disorder"},{"family":"attention deficit disorder"},{"family":"childhood attention deficit\/hyperactivity disorder"},{"family":"attention deficits"},{"family":"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007018","type":"entry-dictionary","title":"Attention deficit hyperactivity disorder"},{"container-title":"HP:0007020","author":[{"family":"Progressive spastic paraplegia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007020","type":"entry-dictionary","title":"Progressive spastic paraplegia"},{"container-title":"HP:0007021","author":[{"family":"absence of pain sensation"},{"family":"Inability to perceive painful stimuli."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007021","type":"entry-dictionary","title":"Pain insensitivity"},{"container-title":"HP:0007023","author":[{"family":"Cerebral hemorrhage that occurs before birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007023","type":"entry-dictionary","title":"Antenatal intracerebral hemorrhage"},{"container-title":"HP:0007024","author":[{"family":"pseudobulbar palsy"},{"family":"pseudobulbar syndrome"},{"family":"Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007024","type":"entry-dictionary","title":"Pseudobulbar paralysis"},{"container-title":"HP:0007027","author":[{"family":"A morphological abnormality of the metencephalon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007027","type":"entry-dictionary","title":"Poorly formed metencephalon"},{"container-title":"HP:0007029","author":[{"family":"cerebral saccular aneurysm"},{"family":"A small, sac-like aneurysm (outpouching) of a cerebral blood vessel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007029","type":"entry-dictionary","title":"Cerebral berry aneurysm"},{"container-title":"HP:0007030","author":[{"family":"Nonprogressive 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This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007074","type":"entry-dictionary","title":"Thick corpus callosum"},{"container-title":"HP:0007076","author":[{"family":"Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007076","type":"entry-dictionary","title":"Extrapyramidal muscular rigidity"},{"container-title":"HP:0007078","author":[{"family":"A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007078","type":"entry-dictionary","title":"Decreased amplitude of sensory action potentials"},{"container-title":"HP:0007081","author":[{"family":"Late-onset muscular dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007081","type":"entry-dictionary","title":"Late-onset muscular dystrophy"},{"container-title":"HP:0007082","author":[{"family":"An increase in size of the third ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007082","type":"entry-dictionary","title":"Dilated third ventricle"},{"container-title":"HP:0007083","author":[{"family":"brisk knee jerk"},{"family":"overactive knee reflex"},{"family":"hyperreflexia in knees"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007083","type":"entry-dictionary","title":"Hyperactive patellar reflex"},{"container-title":"HP:0007086","author":[{"family":"Social and occupational deterioration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007086","type":"entry-dictionary","title":"Social and occupational deterioration"},{"container-title":"HP:0007089","author":[{"family":"Fasciculations affecting the tongue muscle and the musculature of the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007089","type":"entry-dictionary","title":"Facial-lingual fasciculations"},{"container-title":"HP:0007095","author":[{"family":"An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007095","type":"entry-dictionary","title":"Frontoparietal polymicrogyria"},{"container-title":"HP:0007096","author":[{"family":"underdeveloped optic tract"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007096","type":"entry-dictionary","title":"Hypoplasia of the optic tract"},{"container-title":"HP:0007097","author":[{"family":"Cranial nerve motor 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particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007123","type":"entry-dictionary","title":"Subcortical dementia"},{"container-title":"HP:0007126","author":[{"family":"symmetrical, proximal limb muscle atrophy"},{"family":"muscle atrophy, proximal"},{"family":"proximal muscle atrophy"},{"family":"symmetric proximal muscular atrophy"},{"family":"proximal muscle wasting"},{"family":"Amyotrophy (muscular atrophy) affecting the proximal musculature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007126","type":"entry-dictionary","title":"Proximal amyotrophy"},{"container-title":"HP:0007129","author":[{"family":"Cerebellar medulloblastoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007129","type":"entry-dictionary","title":"Cerebellar medulloblastoma"},{"container-title":"HP:0007131","author":[{"family":"Acute 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Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007165","type":"entry-dictionary","title":"Periventricular gray matter heterotopia"},{"container-title":"HP:0007166","author":[{"family":"involuntary dystonic or choreiform movements"},{"family":"Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007166","type":"entry-dictionary","title":"Paroxysmal dyskinesia"},{"container-title":"HP:0007178","author":[{"family":"peripheral motor neuropathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007178","type":"entry-dictionary","title":"Motor polyneuropathy"},{"container-title":"HP:0007179","author":[{"family":"A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007179","type":"entry-dictionary","title":"Absent smooth pursuit"},{"container-title":"HP:0007181","author":[{"family":"interosseous muscular atrophy"},{"family":"Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007181","type":"entry-dictionary","title":"Interosseus muscle atrophy"},{"container-title":"HP:0007182","author":[{"family":"Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007182","type":"entry-dictionary","title":"Peripheral hypomyelination"},{"container-title":"HP:0007183","author":[{"family":"hyperintense lesions in the basal ganglia on mri"},{"family":"A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. 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There are no distinguishable cortical layers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007260","type":"entry-dictionary","title":"Type II lissencephaly"},{"container-title":"HP:0007262","author":[{"family":"A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007262","type":"entry-dictionary","title":"Symmetric peripheral demyelination"},{"container-title":"HP:0040030","author":[{"family":"Chorioretinal hypopigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040030","type":"entry-dictionary","title":"Chorioretinal hypopigmentation"},{"container-title":"HP:0007263","author":[{"family":"Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007263","type":"entry-dictionary","title":"Spinocerebellar atrophy"},{"container-title":"HP:0040031","author":[{"family":"Chorioretinal 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Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. 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afebril"},{"container-title":"HP:0007401","author":[{"family":"Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007401","type":"entry-dictionary","title":"Macular atrophy"},{"container-title":"HP:0040169","author":[{"family":"Loose anagen hair"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040169","type":"entry-dictionary","title":"Loose anagen hair"},{"container-title":"HP:0007402","author":[{"family":"Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007402","type":"entry-dictionary","title":"Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines"},{"container-title":"HP:0040170","author":[{"family":"Abnormality of hair growth"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040170","type":"entry-dictionary","title":"Abnormality of hair growth"},{"container-title":"HP:0007403","author":[{"family":"thick skin of soles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007403","type":"entry-dictionary","title":"Hypertrophy of skin of soles"},{"container-title":"HP:0040171","author":[{"family":"decreased testosterone"},{"family":"low serum testosterone levels"},{"family":"decreased serum testosterone levels"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040171","type":"entry-dictionary","title":"Decreased serum testosterone level"},{"container-title":"HP:0007404","author":[{"family":"Nonepidermolytic palmoplantar keratoderma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007404","type":"entry-dictionary","title":"Nonepidermolytic palmoplantar keratoderma"},{"container-title":"HP:0040172","author":[{"family":"Abnormality of occipitofrontalis muscle"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040172","type":"entry-dictionary","title":"Abnormality of occipitofrontalis muscle"},{"container-title":"HP:0040173","author":[{"family":"abnormality of lingual muscle"},{"family":"abnormality of the tongue muscle"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040173","type":"entry-dictionary","title":"Abnormality of the tongue muscle"},{"container-title":"HP:0007406","author":[{"family":"dark eyelids"},{"family":"brown eyelids"},{"family":"pigmentation of eyelids"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007406","type":"entry-dictionary","title":"Hyperpigmentation of eyelids"},{"container-title":"HP:0040174","author":[{"family":"abnormality of extrinsic lingual muscle"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040174","type":"entry-dictionary","title":"Abnormality of extrinsic muscle of tongue"},{"container-title":"HP:0007407","author":[{"family":"excessive skin wrinkling on back of hands and fingers"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007407","type":"entry-dictionary","title":"Excessive skin wrinkling on dorsum of hands and fingers"},{"container-title":"HP:0040175","author":[{"family":"Platelet-activating factor acetylhydrolase deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040175","type":"entry-dictionary","title":"Platelet-activating factor acetylhydrolase deficiency"},{"container-title":"HP:0007408","author":[{"family":"Increased susceptibility to infection by the protozan parasite of the genus Leishmania."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007408","type":"entry-dictionary","title":"Tegumentary leishmaniasis susceptibility"},{"container-title":"HP:0040176","author":[{"family":"Abnormal level of phospholipids"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040176","type":"entry-dictionary","title":"Abnormal level of phospholipids"},{"container-title":"HP:0040177","author":[{"family":"abnormal level of paf"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040177","type":"entry-dictionary","title":"Abnormal level of platelet-activating factor"},{"container-title":"HP:0007410","author":[{"family":"excessive sweating of palms and soles"},{"family":"hyperhidrosis of palms and soles"},{"family":"An abnormally increased perspiration on palms and soles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007410","type":"entry-dictionary","title":"Palmoplantar hyperhidrosis"},{"container-title":"HP:0040178","author":[{"family":"increased level of paf"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040178","type":"entry-dictionary","title":"Increased level of platelet-activating factor"},{"container-title":"HP:0007411","author":[{"family":"Hypoplastic-absent sebaceous glands"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007411","type":"entry-dictionary","title":"Hypoplastic-absent sebaceous glands"},{"container-title":"HP:0040179","author":[{"family":"decreased level of paf"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040179","type":"entry-dictionary","title":"Decreased level of platelet-activating factor"},{"container-title":"HP:0007412","author":[{"family":"Macular hyperpigmented dermopathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007412","type":"entry-dictionary","title":"Macular hyperpigmented dermopathy"},{"container-title":"HP:0040180","author":[{"family":"Hyperkeratosis pilaris"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040180","type":"entry-dictionary","title":"Hyperkeratosis pilaris"},{"container-title":"HP:0007413","author":[{"family":"port-wine stain on forehead"},{"family":"Naevus flammeus localised in the skin of the forehead."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007413","type":"entry-dictionary","title":"Nevus flammeus of the forehead"},{"container-title":"HP:0040181","author":[{"family":"chapped lips"},{"family":"common cheilitis"},{"family":"perioral dermatitis"},{"family":"dry lips"},{"family":"cheilitis simplex"},{"family":"Cracking, fissuring, and peeling of the skin of the lips."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040181","type":"entry-dictionary","title":"Chapped lip"},{"container-title":"HP:0007414","author":[{"family":"wrinkled skin of hands and feet in newborn"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007414","type":"entry-dictionary","title":"Neonatal wrinkled skin of hands and feet"},{"container-title":"HP:0040182","author":[{"family":"Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and\/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040182","type":"entry-dictionary","title":"Inappropriate sinus tachycardia"},{"container-title":"HP:0040183","author":[{"family":"stool holding"},{"family":"stool soiling"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040183","type":"entry-dictionary","title":"Encopresis"},{"container-title":"HP:0040184","author":[{"family":"oral bleeding"},{"family":"oral hemorrhage"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040184","type":"entry-dictionary","title":"Oral bleeding"},{"container-title":"HP:0007417","author":[{"family":"discoid lupus erythematosus"},{"family":"Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007417","type":"entry-dictionary","title":"Discoid lupus rash"},{"container-title":"HP:0040185","author":[{"family":"macrothrombozytopenia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040185","type":"entry-dictionary","title":"Macrothrombocytopenia"},{"container-title":"HP:0007418","author":[{"family":"total alopecia"},{"family":"Loss of all scalp hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007418","type":"entry-dictionary","title":"Alopecia totalis"},{"container-title":"HP:0040186","author":[{"family":"A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040186","type":"entry-dictionary","title":"Maculopapular exanthema"},{"container-title":"HP:0040187","author":[{"family":"Systemic inflammatory response to infection in newborn babies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040187","type":"entry-dictionary","title":"Neonatal sepsis"},{"container-title":"HP:0007420","author":[{"family":"Spontaneous development of hematomas (hematoma) or bruises without significant trauma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007420","type":"entry-dictionary","title":"Spontaneous hematomas"},{"container-title":"HP:0040188","author":[{"family":"Abnormal growth ossification centers in children. Initially a degeneration\/ necrosis followed by regeneration or recalcification."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040188","type":"entry-dictionary","title":"Osteochondrosis"},{"container-title":"HP:0007421","author":[{"family":"telangiectasia on the cheeks"},{"family":"Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007421","type":"entry-dictionary","title":"Telangiectases of the cheeks"},{"container-title":"HP:0040189","author":[{"family":"scaling skin"},{"family":"scaly skin"},{"family":"desquamation"},{"family":"peeling skin"},{"family":"flaking skin"},{"family":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040189","type":"entry-dictionary","title":"Scaling skin"},{"container-title":"HP:0040190","author":[{"family":"white scaling skin"},{"family":"white scaly skin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040190","type":"entry-dictionary","title":"White scaling skin"},{"container-title":"HP:0040191","author":[{"family":"atrophy of the rectus femoris muscles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040191","type":"entry-dictionary","title":"Rectus femoris muscle atrophy"},{"container-title":"HP:0040192","author":[{"family":"amine precursor uptake and decarboxylation tumours"},{"family":"An endocrine tumor arising from an APUD cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040192","type":"entry-dictionary","title":"APUdoma"},{"container-title":"HP:0007425","author":[{"family":"stretchable face skin"},{"family":"hyperelastic face skin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007425","type":"entry-dictionary","title":"Hyperextensible skin of face"},{"container-title":"HP:0040194","author":[{"family":"increased head circumference"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040194","type":"entry-dictionary","title":"Increased head circumference"},{"container-title":"HP:0007427","author":[{"family":"reticular pigmentation pattern"},{"family":"reticulate skin pigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007427","type":"entry-dictionary","title":"Reticulated skin pigmentation"},{"container-title":"HP:0040195","author":[{"family":"decreased head circumference"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040195","type":"entry-dictionary","title":"Decreased head circumference"},{"container-title":"HP:0007428","author":[{"family":"angioectasia of the oral mucous membrane"},{"family":"spider veins of the oral mucosa"},{"family":"angioectasia of the oral mucosa"},{"family":"telangiectasia of the oral mucous membrane"},{"family":"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007428","type":"entry-dictionary","title":"Telangiectasia of the oral mucosa"},{"container-title":"HP:0040196","author":[{"family":"Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040196","type":"entry-dictionary","title":"Mild microcephaly"},{"container-title":"HP:0007429","author":[{"family":"The presence of two to five cafe-au-lait macules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007429","type":"entry-dictionary","title":"Few cafe-au-lait spots"},{"container-title":"HP:0040197","author":[{"family":"cerebral softening"},{"family":"Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040197","type":"entry-dictionary","title":"Encephalomalacia"},{"container-title":"HP:0007430","author":[{"family":"generalized tissue edema"},{"family":"Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007430","type":"entry-dictionary","title":"Generalized edema"},{"container-title":"HP:0040198","author":[{"family":"nonmedullary thyroid carcinoma"},{"family":"thyroid cancer, nonmedullary"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040198","type":"entry-dictionary","title":"Non-medullary thyroid carcinoma"},{"container-title":"HP:0007431","author":[{"family":"congenital ichthyosis"},{"family":"ichthyosis, congenital"},{"family":"An ichthyosiform abnormality of the skin with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007431","type":"entry-dictionary","title":"Congenital ichthyosiform erythroderma"},{"container-title":"HP:0007432","author":[{"family":"Intermittent generalized erythematous papular rash"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007432","type":"entry-dictionary","title":"Intermittent generalized erythematous papular rash"},{"container-title":"HP:0040200","author":[{"family":"negative chorea"},{"family":"The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040200","type":"entry-dictionary","title":"Motor impersistence"},{"container-title":"HP:0040201","author":[{"family":"A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040201","type":"entry-dictionary","title":"Simultanapraxia"},{"container-title":"HP:0007434","author":[{"family":"hemangioma, facial, plaque-like"},{"family":"Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007434","type":"entry-dictionary","title":"Plaque-like facial hemangioma"},{"container-title":"HP:0040202","author":[{"family":"Abnormal consumption behavior"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040202","type":"entry-dictionary","title":"Abnormal consumption behavior"},{"container-title":"HP:0007435","author":[{"family":"Diffuse palmoplantar keratoderma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007435","type":"entry-dictionary","title":"Diffuse palmoplantar keratoderma"},{"container-title":"HP:0040203","author":[{"family":"Abnormal concentration of neopterin in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040203","type":"entry-dictionary","title":"Abnormal CSF neopterin level"},{"container-title":"HP:0007436","author":[{"family":"Hair-nail ectodermal dysplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007436","type":"entry-dictionary","title":"Hair-nail ectodermal dysplasia"},{"container-title":"HP:0040204","author":[{"family":"Increased concentration of neopterin in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040204","type":"entry-dictionary","title":"Elevated CSF neopterin level"},{"container-title":"HP:0007437","author":[{"family":"The presence of multiple leiomyomas of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007437","type":"entry-dictionary","title":"Multiple cutaneous leiomyomas"},{"container-title":"HP:0040205","author":[{"family":"Decreased concentration of dopamine in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040205","type":"entry-dictionary","title":"Decreased CSF neopterin level"},{"container-title":"HP:0007438","author":[{"family":"Mottled pigmentation of the trunk and proximal extremities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007438","type":"entry-dictionary","title":"Mottled pigmentation of the trunk and proximal extremities"},{"container-title":"HP:0040206","author":[{"family":"The presence of an abnormal concentration of neopterin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040206","type":"entry-dictionary","title":"Abnormal level of neopterin"},{"container-title":"HP:0007439","author":[{"family":"Generalized keratosis follicularis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007439","type":"entry-dictionary","title":"Generalized keratosis follicularis"},{"container-title":"HP:0040207","author":[{"family":"Abnormal concentration of biopterin in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040207","type":"entry-dictionary","title":"Abnormal CSF biopterin level"},{"container-title":"HP:0007440","author":[{"family":"Generalized hyperpigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007440","type":"entry-dictionary","title":"Generalized hyperpigmentation"},{"container-title":"HP:0040208","author":[{"family":"Increased concentration of biopterin in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040208","type":"entry-dictionary","title":"Elevated CSF biopterin level"},{"container-title":"HP:0007441","author":[{"family":"Hyperpigmented\/hypopigmented macules"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007441","type":"entry-dictionary","title":"Hyperpigmented\/hypopigmented macules"},{"container-title":"HP:0040209","author":[{"family":"low csf bh4 (tetrahydrobiopterin)"},{"family":"Decreased concentration of biopterin in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040209","type":"entry-dictionary","title":"Decreased CSF biopterin level"},{"container-title":"HP:0040210","author":[{"family":"The presence of an abnormal concentration of biopterin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040210","type":"entry-dictionary","title":"Abnormal level of biopterin"},{"container-title":"HP:0007443","author":[{"family":"congenital partial leucoderma"},{"family":"partial absent skin pigmentation"},{"family":"congenital partial albinism on face, trunk, or limbs"},{"family":"Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007443","type":"entry-dictionary","title":"Partial albinism"},{"container-title":"HP:0040211","author":[{"family":"An abnormality of the skin of the palm, that is, the skin of the front of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040211","type":"entry-dictionary","title":"Abnormality of the skin of the palm"},{"container-title":"HP:0040212","author":[{"family":"rictus grin"},{"family":"Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040212","type":"entry-dictionary","title":"Risus sardonicus"},{"container-title":"HP:0040213","author":[{"family":"Hypopnea is referring to breathing that is abnormally shallower and\/or slow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040213","type":"entry-dictionary","title":"Hypopnea"},{"container-title":"HP:0007446","author":[{"family":"A type of blistering that affects the skin of the palms of the hands and the soles of the feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007446","type":"entry-dictionary","title":"Palmoplantar blistering"},{"container-title":"HP:0040214","author":[{"family":"An abnormal concentration of insulin in the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040214","type":"entry-dictionary","title":"Abnormal insulin level"},{"container-title":"HP:0007447","author":[{"family":"hyperkeratosis, diffuse palmoplantar"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007447","type":"entry-dictionary","title":"Diffuse palmoplantar hyperkeratosis"},{"container-title":"HP:0040215","author":[{"family":"An abnormal concentration of insulin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040215","type":"entry-dictionary","title":"Abnormal circulating insulin level"},{"container-title":"HP:0007448","author":[{"family":"Hyperkeratosis over edematous areas"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007448","type":"entry-dictionary","title":"Hyperkeratosis over edematous areas"},{"container-title":"HP:0040216","author":[{"family":"A decreased concentration of insulin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040216","type":"entry-dictionary","title":"Hypoinsulinemia"},{"container-title":"HP:0007449","author":[{"family":"Confetti-like hypopigmented macules"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007449","type":"entry-dictionary","title":"Confetti-like hypopigmented macules"},{"container-title":"HP:0040217","author":[{"family":"elevated glycated hemoglobin"},{"family":"elevated glycosylated hemoglobin"},{"family":"increased hba1c levels"},{"family":"An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040217","type":"entry-dictionary","title":"Elevated hemoglobin A1c"},{"container-title":"HP:0007450","author":[{"family":"Increased groin pigmentation with raindrop depigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007450","type":"entry-dictionary","title":"Increased groin pigmentation with raindrop depigmentation"},{"container-title":"HP:0040218","author":[{"family":"reduced natural killer cell number"},{"family":"reduced nk cell number"},{"family":"Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040218","type":"entry-dictionary","title":"Reduced natural killer cell count"},{"container-title":"HP:0007451","author":[{"family":"Ipsilateral lack of facial sweating"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007451","type":"entry-dictionary","title":"Ipsilateral lack of facial sweating"},{"container-title":"HP:0040219","author":[{"family":"absent nk cells"},{"family":"Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040219","type":"entry-dictionary","title":"Absent natural killer cells"},{"container-title":"HP:0007452","author":[{"family":"midfacial capillary hemangioma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007452","type":"entry-dictionary","title":"Midface capillary hemangioma"},{"container-title":"HP:0040220","author":[{"family":"Abnormal size the dental root"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040220","type":"entry-dictionary","title":"Abnormal size the dental root"},{"container-title":"HP:0007453","author":[{"family":"Lichenification affecting primarily flexural areas of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007453","type":"entry-dictionary","title":"Flexural lichenification"},{"container-title":"HP:0040221","author":[{"family":"Hypoplasia of the dental root"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040221","type":"entry-dictionary","title":"Hypoplasia of the dental root"},{"container-title":"HP:0040222","author":[{"family":"An increased tendency towards thrombosis in the mother during a pregnancy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040222","type":"entry-dictionary","title":"Maternal thrombophilia"},{"container-title":"HP:0007455","author":[{"family":"Adermatoglyphia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007455","type":"entry-dictionary","title":"Adermatoglyphia"},{"container-title":"HP:0040223","author":[{"family":"intrapulmonary hemorrhage"},{"family":"A hemorrhage occurring within the lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040223","type":"entry-dictionary","title":"Pulmonary hemorrhage"},{"container-title":"HP:0007456","author":[{"family":"Progressive reticulate hyperpigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007456","type":"entry-dictionary","title":"Progressive reticulate hyperpigmentation"},{"container-title":"HP:0040224","author":[{"family":"abnormality of the fibrinolytic system"},{"family":"Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040224","type":"entry-dictionary","title":"Abnormality of fibrinolysis"},{"container-title":"HP:0007457","author":[{"family":"Prominent thoracic and abdominal veins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007457","type":"entry-dictionary","title":"Prominent veins on trunk"},{"container-title":"HP:0040225","author":[{"family":"decrease in hmw vwf multimers"},{"family":"A decrease in high molecular weight von Willebrand factor multimers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040225","type":"entry-dictionary","title":"Decrease in high molecular weight von Willebrand factor Multimers"},{"container-title":"HP:0007458","author":[{"family":"Focal hyperextensible skin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007458","type":"entry-dictionary","title":"Focal hyperextensible skin"},{"container-title":"HP:0040226","author":[{"family":"heparin co-factor ii deficiency"},{"family":"An abnormality of coagulation related to a decreased concentration of heparin co-factor II"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040226","type":"entry-dictionary","title":"Decreased level of heparin co-factor II"},{"container-title":"HP:0007459","author":[{"family":"generalized inability to sweat"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007459","type":"entry-dictionary","title":"Generalized anhidrosis"},{"container-title":"HP:0040227","author":[{"family":"Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040227","type":"entry-dictionary","title":"Decreased level of histidine-rich glycoprotein"},{"container-title":"HP:0007460","author":[{"family":"Autoamputation of digits"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007460","type":"entry-dictionary","title":"Autoamputation of digits"},{"container-title":"HP:0040228","author":[{"family":"hypoplasminogenemia"},{"family":"A decreased level of Plasminogen"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040228","type":"entry-dictionary","title":"Decreased level of plasminogen"},{"container-title":"HP:0007461","author":[{"family":"Hemangiomatosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007461","type":"entry-dictionary","title":"Hemangiomatosis"},{"container-title":"HP:0040229","author":[{"family":"bdca-3"},{"family":"Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040229","type":"entry-dictionary","title":"Decreased level of thrombomodulin"},{"container-title":"HP:0007462","author":[{"family":"bitot's spots"},{"family":"Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007462","type":"entry-dictionary","title":"Bitot spots of the conjunctiva"},{"container-title":"HP:0040230","author":[{"family":"decreased level of tpa"},{"family":"tPA catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040230","type":"entry-dictionary","title":"Decreased level of tissue plasminogen activator"},{"container-title":"HP:0040231","author":[{"family":"Abnormal onset of bleeding"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040231","type":"entry-dictionary","title":"Abnormal onset of bleeding"},{"container-title":"HP:0007464","author":[{"family":"sparse facial hair"},{"family":"Reduced number or density of facial hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007464","type":"entry-dictionary","title":"Sparse facial hair"},{"container-title":"HP:0040232","author":[{"family":"Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040232","type":"entry-dictionary","title":"Delayed onset bleeding"},{"container-title":"HP:0007465","author":[{"family":"Honeycomb palmoplantar keratoderma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007465","type":"entry-dictionary","title":"Honeycomb palmoplantar keratoderma"},{"container-title":"HP:0040233","author":[{"family":"reduced factor xiii, subunit a"},{"family":"Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040233","type":"entry-dictionary","title":"Factor XIII subunit A deficiency"},{"container-title":"HP:0007466","author":[{"family":"Midfrontal capillary hemangioma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007466","type":"entry-dictionary","title":"Midfrontal capillary hemangioma"},{"container-title":"HP:0040234","author":[{"family":"reduced factor xiii, subunit b"},{"family":"Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040234","type":"entry-dictionary","title":"Factor XIII subunit B deficiency"},{"container-title":"HP:0040235","author":[{"family":"dohle-like leukocyte inclusion bodies"},{"family":"inclusion bodies in leukocytes"},{"family":"The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040235","type":"entry-dictionary","title":"Leukocyte inclusion bodies"},{"container-title":"HP:0007468","author":[{"family":"Perifollicular hyperkeratosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007468","type":"entry-dictionary","title":"Perifollicular hyperkeratosis"},{"container-title":"HP:0040236","author":[{"family":"Increased degradation of fibrin, associated with clot instability and bleeding"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040236","type":"entry-dictionary","title":"Hyperfibrinolysis"},{"container-title":"HP:0007469","author":[{"family":"cutis gyrata of palms and soles"},{"family":"Cutis gyrata of palms and soles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007469","type":"entry-dictionary","title":"Palmoplantar cutis gyrata"},{"container-title":"HP:0040237","author":[{"family":"von willebrand disease type ii normandy"},{"family":"Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040237","type":"entry-dictionary","title":"Impaired binding of factor VIII to VWF"},{"container-title":"HP:0007470","author":[{"family":"Subcutaneous nodules that are located in the vicinity of joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007470","type":"entry-dictionary","title":"Periarticular subcutaneous nodules"},{"container-title":"HP:0040238","author":[{"family":"An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040238","type":"entry-dictionary","title":"Impaired neutrophil chemotaxis"},{"container-title":"HP:0007471","author":[{"family":"Axillary and groin hyperpigmentation and hypopigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007471","type":"entry-dictionary","title":"Axillary and groin hyperpigmentation and hypopigmentation"},{"container-title":"HP:0040239","author":[{"family":"Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040239","type":"entry-dictionary","title":"Increased plasma vitamin K epoxide after vitamin K supplementation"},{"container-title":"HP:0040240","author":[{"family":"An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040240","type":"entry-dictionary","title":"Increased ratio of VWF propeptide to VWF antigen"},{"container-title":"HP:0007473","author":[{"family":"Crusting erythematous dermatitis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007473","type":"entry-dictionary","title":"Crusting erythematous dermatitis"},{"container-title":"HP:0040241","author":[{"family":"Increased platelet agglutination in response to low-dose ristocetin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040241","type":"entry-dictionary","title":"Increased RIPA"},{"container-title":"HP:0040242","author":[{"family":"Haemorrhage occurring within a muscle"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040242","type":"entry-dictionary","title":"Muscle haemorrhage"},{"container-title":"HP:0007475","author":[{"family":"epidermolytic hyperkeratosis"},{"family":"bullous congenital ichthyosiform erythroderma"},{"family":"An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized, erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007475","type":"entry-dictionary","title":"Congenital bullous ichthyosiform erythroderma"},{"container-title":"HP:0040243","author":[{"family":"Clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040243","type":"entry-dictionary","title":"Prolonged euglobulin clot lysis time"},{"container-title":"HP:0007476","author":[{"family":"Anhidrotic ectodermal dysplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007476","type":"entry-dictionary","title":"Anhidrotic ectodermal dysplasia"},{"container-title":"HP:0040244","author":[{"family":"Increased time to coagulation in the Russell's viper venom assay"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040244","type":"entry-dictionary","title":"Prolonged Russell's viper venom time"},{"container-title":"HP:0007477","author":[{"family":"abnormal fingerprints"},{"family":"dermatoglyphic abnormalities"},{"family":"An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007477","type":"entry-dictionary","title":"Abnormal dermatoglyphics"},{"container-title":"HP:0040245","author":[{"family":"Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040245","type":"entry-dictionary","title":"Reduced alpha-2-antiplasmin activity"},{"container-title":"HP:0040246","author":[{"family":"Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040246","type":"entry-dictionary","title":"Reduced antithrombin antigen"},{"container-title":"HP:0007479","author":[{"family":"congenital non-bullous ichthyosis"},{"family":"ichthyosis, congenital, nonblistering"},{"family":"nonbullous congenital ichthyosiform erythroderma"},{"family":"collodion baby"},{"family":"congenital lamellar ichthyosis"},{"family":"ichthyosis lammellaris"},{"family":"nonbullous congenital ichthyosis"},{"family":"The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007479","type":"entry-dictionary","title":"Congenital nonbullous ichthyosiform erythroderma"},{"container-title":"HP:0040247","author":[{"family":"Clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040247","type":"entry-dictionary","title":"Reduced euglobulin clot lysis time"},{"container-title":"HP:0007480","author":[{"family":"Decreased sweating due to autonomic dysfunction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007480","type":"entry-dictionary","title":"Decreased sweating due to autonomic dysfunction"},{"container-title":"HP:0040248","author":[{"family":"Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040248","type":"entry-dictionary","title":"Reduced plasminogen activator inhibitor 1 activity"},{"container-title":"HP:0007481","author":[{"family":"Hyperpigmented nevi"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007481","type":"entry-dictionary","title":"Hyperpigmented nevi"},{"container-title":"HP:0040249","author":[{"family":"Reduced level of plasminogen activator inhibitor 1 antigen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040249","type":"entry-dictionary","title":"Reduced plasminogen activator inhibitor 1 antigen"},{"container-title":"HP:0007482","author":[{"family":"Generalized papillary lesions"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007482","type":"entry-dictionary","title":"Generalized papillary lesions"},{"container-title":"HP:0040250","author":[{"family":"Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040250","type":"entry-dictionary","title":"Reduced prothrombin antigen"},{"container-title":"HP:0007483","author":[{"family":"Depigmentation\/hyperpigmentation of skin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007483","type":"entry-dictionary","title":"Depigmentation\/hyperpigmentation of skin"},{"container-title":"HP:0040251","author":[{"family":"A subtype of skin dimples occurring on the hands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040251","type":"entry-dictionary","title":"Hand dimples"},{"container-title":"HP:0040252","author":[{"family":"Abnormal size of the clitoris"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040252","type":"entry-dictionary","title":"Abnormal size of the clitoris"},{"container-title":"HP:0007485","author":[{"family":"general absence of subcutaneous fat"},{"family":"absent fat below the skin"},{"family":"Lack of subcutaneous adipose tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007485","type":"entry-dictionary","title":"Absence of subcutaneous fat"},{"container-title":"HP:0040253","author":[{"family":"Increased size of the clitoris"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040253","type":"entry-dictionary","title":"Increased size of the clitoris"},{"container-title":"HP:0007486","author":[{"family":"Cavernous hemangioma of the face"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007486","type":"entry-dictionary","title":"Cavernous hemangioma of the face"},{"container-title":"HP:0040254","author":[{"family":"Decreased size of the clitoris"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040254","type":"entry-dictionary","title":"Decreased size of the clitoris"},{"container-title":"HP:0040255","author":[{"family":"Aplasia\/Hypoplasia of the clitoris"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040255","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the clitoris"},{"container-title":"HP:0007488","author":[{"family":"Diffuse skin atrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007488","type":"entry-dictionary","title":"Diffuse skin atrophy"},{"container-title":"HP:0040256","author":[{"family":"adenoids small or absent"},{"family":"Absence or underdevelopment of the nasopharyngeal adenoids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040256","type":"entry-dictionary","title":"Aplastic\/Hypoplastic nasopharyngeal adenoids"},{"container-title":"HP:0007489","author":[{"family":"diffuse telangiectases"},{"family":"telangiectases, random body distribution"},{"family":"Telangiectases (small dilated blood vessels) with a diffuse localization."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007489","type":"entry-dictionary","title":"Diffuse telangiectasia"},{"container-title":"HP:0040257","author":[{"family":"A deviation in the size of nasopharyngeal adenoids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040257","type":"entry-dictionary","title":"Abnormal size of nasopharyngeal adenoids"},{"container-title":"HP:0007490","author":[{"family":"Linear arrays of macular hyperkeratoses in flexural areas"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007490","type":"entry-dictionary","title":"Linear arrays of macular hyperkeratoses in flexural areas"},{"container-title":"HP:0040258","author":[{"family":"underdeveloped nasopharyngeal adenoids"},{"family":"Underdevelopment of the nasopharyngeal adenoids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040258","type":"entry-dictionary","title":"Hypoplastic nasopharyngeal adenoids"},{"container-title":"HP:0040259","author":[{"family":"Absence of the nasopharyngeal adenoids as a developmental defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040259","type":"entry-dictionary","title":"Aplastic nasopharyngeal adenoids"},{"container-title":"HP:0040260","author":[{"family":"An abnormal decrease in the size of nasopharyngeal adenoids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040260","type":"entry-dictionary","title":"Decreased size of nasopharyngeal adenoids"},{"container-title":"HP:0040261","author":[{"family":"adenoids large"},{"family":"adenoid hypertrophy"},{"family":"An abnormal increase in the size of nasopharyngeal adenoids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040261","type":"entry-dictionary","title":"Increased size of nasopharyngeal adenoids"},{"container-title":"HP:0007494","author":[{"family":"Discrete 2 to 5-mm hyper- and hypopigmented macules"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007494","type":"entry-dictionary","title":"Discrete 2 to 5-mm hyper- and hypopigmented macules"},{"container-title":"HP:0040262","author":[{"family":"Middle ear is filled with glue-like fluid instead of air."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040262","type":"entry-dictionary","title":"Glue ear"},{"container-title":"HP:0007495","author":[{"family":"precociously senile appearance"},{"family":"prematurely aged appearance"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007495","type":"entry-dictionary","title":"Prematurely aged appearance"},{"container-title":"HP:0040263","author":[{"family":"difficulty opening mouth"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040263","type":"entry-dictionary","title":"Jaw ankylosis"},{"container-title":"HP:0040264","author":[{"family":"jaw pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040264","type":"entry-dictionary","title":"Jaw pain"},{"container-title":"HP:0007497","author":[{"family":"hyperkeratosis, palmoplantar, focal friction-related"},{"family":"Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007497","type":"entry-dictionary","title":"Focal friction-related palmoplantar hyperkeratosis"},{"container-title":"HP:0040265","author":[{"family":"Upper limb muscle hypertrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040265","type":"entry-dictionary","title":"Upper limb muscle hypertrophy"},{"container-title":"HP:0040266","author":[{"family":"Proximal upper limb muscle hypertrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040266","type":"entry-dictionary","title":"Proximal upper limb muscle hypertrophy"},{"container-title":"HP:0007499","author":[{"family":"recurrent staphylococcal infections"},{"family":"Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007499","type":"entry-dictionary","title":"Recurrent staphylococcal infections"},{"container-title":"HP:0040267","author":[{"family":"Distal upper limb muscle hypertrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040267","type":"entry-dictionary","title":"Distal upper limb muscle hypertrophy"},{"container-title":"HP:0007500","author":[{"family":"decreased sweat pores"},{"family":"decreased sweat glands"},{"family":"The presence of fewer than normal sweat glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007500","type":"entry-dictionary","title":"Decreased number of sweat glands"},{"container-title":"HP:0040268","author":[{"family":"Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040268","type":"entry-dictionary","title":"Recurrent infections of the middle ear"},{"container-title":"HP:0007501","author":[{"family":"Streaks of hyperkeratosis along each finger onto the palm"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007501","type":"entry-dictionary","title":"Streaks of hyperkeratosis along each finger onto the palm"},{"container-title":"HP:0040269","author":[{"family":"obstruction of eustachian tube"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040269","type":"entry-dictionary","title":"Blocked Eustachian tube"},{"container-title":"HP:0007502","author":[{"family":"hyperkeratosis follicularis"},{"family":"A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007502","type":"entry-dictionary","title":"Follicular hyperkeratosis"},{"container-title":"HP:0040270","author":[{"family":"glucose tolerance decreased"},{"family":"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040270","type":"entry-dictionary","title":"Decreased glucose tolerance"},{"container-title":"HP:0007503","author":[{"family":"Generalized ichthyosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007503","type":"entry-dictionary","title":"Generalized ichthyosis"},{"container-title":"HP:0007504","author":[{"family":"Diffuse slow skin atrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007504","type":"entry-dictionary","title":"Diffuse slow skin atrophy"},{"container-title":"HP:0040272","author":[{"family":"A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040272","type":"entry-dictionary","title":"Hyperintensity of MRI T2 signal of the spinal cord"},{"container-title":"HP:0007505","author":[{"family":"Progressive hyperpigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007505","type":"entry-dictionary","title":"Progressive hyperpigmentation"},{"container-title":"HP:0040273","author":[{"family":"A malignant epithelial tumor with a glandular organization that originates in the intestines."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040273","type":"entry-dictionary","title":"Adenocarcinoma of the intestines"},{"container-title":"HP:0007506","author":[{"family":"missing skin on limbs since birth"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007506","type":"entry-dictionary","title":"Congenital absence of skin of limbs"},{"container-title":"HP:0040274","author":[{"family":"A malignant epithelial tumor with a glandular organization that originates in the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040274","type":"entry-dictionary","title":"Adenocarcinoma of the small intestine"},{"container-title":"HP:0040275","author":[{"family":"A malignant epithelial tumor with a glandular organization that originates in the large intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040275","type":"entry-dictionary","title":"Adenocarcinoma of the large intestine"},{"container-title":"HP:0007508","author":[{"family":"Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007508","type":"entry-dictionary","title":"Punctate palmar hyperkeratosis"},{"container-title":"HP:0040276","author":[{"family":"Adenocarcinoma of the colon"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040276","type":"entry-dictionary","title":"Adenocarcinoma of the colon"},{"container-title":"HP:0007509","author":[{"family":"patchy hypo- and hyper-pigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007509","type":"entry-dictionary","title":"Patchy hypo- and hyperpigmentation"},{"container-title":"HP:0040277","author":[{"family":"Neoplasm of the pituitary gland"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040277","type":"entry-dictionary","title":"Neoplasm of the pituitary gland"},{"container-title":"HP:0007510","author":[{"family":"Focal dermal aplasia\/hypoplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007510","type":"entry-dictionary","title":"Focal dermal aplasia\/hypoplasia"},{"container-title":"HP:0040278","author":[{"family":"A benign tumor (adenoma) of the pituitary gland"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040278","type":"entry-dictionary","title":"Prolactinoma"},{"container-title":"HP:0007511","author":[{"family":"Mottled pigmentation of photoexposed areas"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007511","type":"entry-dictionary","title":"Mottled pigmentation of photoexposed areas"},{"container-title":"HP:0040280","author":[{"family":"obligate (100%)"},{"family":"Always present, i.e. in 100% of the cases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040280","type":"entry-dictionary","title":"Obligate"},{"container-title":"HP:0007513","author":[{"family":"fair skin"},{"family":"pale pigmentation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007513","type":"entry-dictionary","title":"Generalized hypopigmentation"},{"container-title":"HP:0040281","author":[{"family":"very frequent (99-80%)"},{"family":"Present in 80% to 99% of the cases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0040281","type":"entry-dictionary","title":"Very frequent"},{"container-title":"HP:0007514","author":[{"family":"edema of dorsum of hands and feet"},{"family":"An abnormal accumulation of fluid beneath the skin on the back of the hands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007514","type":"entry-dictionary","title":"Edema of the dorsum of hands"},{"container-title":"HP:0040282","author":[{"family":"frequent (79-30%)"},{"family":"Present in 30% to 79% of the 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the limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007589","type":"entry-dictionary","title":"Aplasia cutis congenita on trunk or limbs"},{"container-title":"HP:0007590","author":[{"family":"Aplasia cutis congenita over posterior parietal area"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007590","type":"entry-dictionary","title":"Aplasia cutis congenita over posterior parietal area"},{"container-title":"HP:0007592","author":[{"family":"hypoplastic-absent eccrine sweat glands"},{"family":"Absence or developmental hypoplasia of the eccrine sweat glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007592","type":"entry-dictionary","title":"Aplasia\/Hypoplastia of the eccrine sweat glands"},{"container-title":"HP:0007595","author":[{"family":"excess skin in infancy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007595","type":"entry-dictionary","title":"Redundant skin in infancy"},{"container-title":"HP:0007596","author":[{"family":"painful noncancerous fat tissue tumor 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The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007667","type":"entry-dictionary","title":"Peripheral cystoid retinal degeneration"},{"container-title":"HP:0007668","author":[{"family":"Impaired pursuit initiation and maintenance"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007668","type":"entry-dictionary","title":"Impaired pursuit initiation and maintenance"},{"container-title":"HP:0007670","author":[{"family":"abnormal vestibuloocular reflex"},{"family":"An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007670","type":"entry-dictionary","title":"Abnormal vestibulo-ocular reflex"},{"container-title":"HP:0007675","author":[{"family":"progressive night blindness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007675","type":"entry-dictionary","title":"Progressive night blindness"},{"container-title":"HP:0007676","author":[{"family":"iris hypoplasia"},{"family":"underdeveloped iris"},{"family":"hypoplastic iris"},{"family":"Congenital underdevelopment of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007676","type":"entry-dictionary","title":"Hypoplasia of the iris"},{"container-title":"HP:0007677","author":[{"family":"vitelliform macular dystrophy"},{"family":"vitelliform macular lesions"},{"family":"Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007677","type":"entry-dictionary","title":"Vitelliform-like macular lesions"},{"container-title":"HP:0007678","author":[{"family":"nasolacrimal duct stenosis"},{"family":"narrowing of the tear duct"},{"family":"Narrowing of a tear duct (lacrimal duct)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007678","type":"entry-dictionary","title":"Lacrimal duct stenosis"},{"container-title":"HP:0007680","author":[{"family":"Depigmented fundus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007680","type":"entry-dictionary","title":"Depigmented fundus"},{"container-title":"HP:0007685","author":[{"family":"Peripheral retinal avascularization"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007685","type":"entry-dictionary","title":"Peripheral retinal avascularization"},{"container-title":"HP:0007686","author":[{"family":"A functional abnormality of the pupil."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007686","type":"entry-dictionary","title":"Abnormal pupillary function"},{"container-title":"HP:0007687","author":[{"family":"dropping of one upper eyelid"},{"family":"A unilateral form of ptosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007687","type":"entry-dictionary","title":"Unilateral ptosis"},{"container-title":"HP:0007688","author":[{"family":"absent cone and rod functions by electroretinogram"},{"family":"absent rod-and cone-mediated responses on erg"},{"family":"Absence of the combined rod-and-code response on electroretinogram."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007688","type":"entry-dictionary","title":"Undetectable light- and dark-adapted electroretinogram"},{"container-title":"HP:0007690","author":[{"family":"Map-dot-fingerprint corneal dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007690","type":"entry-dictionary","title":"Map-dot-fingerprint corneal dystrophy"},{"container-title":"HP:0007695","author":[{"family":"An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007695","type":"entry-dictionary","title":"Abnormal pupillary light reflex"},{"container-title":"HP:0007697","author":[{"family":"hypotrophic lower eyelid"},{"family":"underdevelopment of lower eyelid"},{"family":"short lower eyelid"},{"family":"decreased size of lower eyelid"},{"family":"small lower eyelid"},{"family":"Underdevelopment of the lower eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007697","type":"entry-dictionary","title":"Hypoplasia of the lower eyelids"},{"container-title":"HP:0007700","author":[{"family":"anterior segment mesencyhmal dysgenesis"},{"family":"anterior chamber mesodermal anomalies"},{"family":"anterior segment ocular dysgenesis"},{"family":"anterior chamber cleavage defect"},{"family":"anterior chamber malformation"},{"family":"anterior chamber cleavage disorder"},{"family":"Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007700","type":"entry-dictionary","title":"Anterior segment dysgenesis"},{"container-title":"HP:0007703","author":[{"family":"abnormal retinal pigmentation"},{"family":"retinal pigmentary anomaly"},{"family":"abnormality of rpe"},{"family":"abnormality of the retinal pigment epithelium"},{"family":"abnormality of retinal pigment epithelium"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007703","type":"entry-dictionary","title":"Abnormality of retinal pigmentation"},{"container-title":"HP:0007704","author":[{"family":"abnormal eye movements, paroxysmal"},{"family":"Sudden-onset episode of abnormal, involuntary eye movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007704","type":"entry-dictionary","title":"Paroxysmal involuntary eye movements"},{"container-title":"HP:0007705","author":[{"family":"Corneal degeneration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007705","type":"entry-dictionary","title":"Corneal degeneration"},{"container-title":"HP:0007707","author":[{"family":"Absence of the crystalline lens of the eye as a result of a developmental defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007707","type":"entry-dictionary","title":"Aphakia"},{"container-title":"HP:0007708","author":[{"family":"absent inner eyelashes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007708","type":"entry-dictionary","title":"Absent inner eyelashes"},{"container-title":"HP:0007709","author":[{"family":"Band-shaped corneal dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007709","type":"entry-dictionary","title":"Band-shaped corneal dystrophy"},{"container-title":"HP:0007710","author":[{"family":"Peripheral vitreous opacities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007710","type":"entry-dictionary","title":"Peripheral vitreous opacities"},{"container-title":"HP:0007713","author":[{"family":"Juvenile zonular cataracts"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007713","type":"entry-dictionary","title":"Juvenile zonular cataracts"},{"container-title":"HP:0007715","author":[{"family":"Weak extraocular muscles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007715","type":"entry-dictionary","title":"Weak extraocular muscles"},{"container-title":"HP:0007716","author":[{"family":"uveal melanoma"},{"family":"A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007716","type":"entry-dictionary","title":"Intraocular melanoma"},{"container-title":"HP:0007717","author":[{"family":"A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007717","type":"entry-dictionary","title":"Chronic irritative conjunctivitis"},{"container-title":"HP:0007720","author":[{"family":"cornea plana"},{"family":"Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007720","type":"entry-dictionary","title":"Flat cornea"},{"container-title":"HP:0007721","author":[{"family":"saccular conjunctival aneurysms"},{"family":"Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007721","type":"entry-dictionary","title":"Saccular conjunctival dilatations"},{"container-title":"HP:0007722","author":[{"family":"Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007722","type":"entry-dictionary","title":"Retinal pigment epithelial atrophy"},{"container-title":"HP:0007727","author":[{"family":"superficial corneal opacities"},{"family":"Lack of transparency of the corneal epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007727","type":"entry-dictionary","title":"Opacification of the corneal epithelium"},{"container-title":"HP:0007728","author":[{"family":"Abnormal (non-physiological) constriction of the pupil of congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007728","type":"entry-dictionary","title":"Congenital miosis"},{"container-title":"HP:0007730","author":[{"family":"reduced iris pigmentation"},{"family":"An abnormal reduction in the amount of pigmentation of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007730","type":"entry-dictionary","title":"Iris hypopigmentation"},{"container-title":"HP:0007731","author":[{"family":"Abnormal development of the choroid and retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007731","type":"entry-dictionary","title":"Chorioretinal dysplasia"},{"container-title":"HP:0007732","author":[{"family":"hypoplastic lacrimal gland"},{"family":"underdeveloped tear gland"},{"family":"Underdevelopment of the lacrimal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007732","type":"entry-dictionary","title":"Lacrimal gland hypoplasia"},{"container-title":"HP:0007733","author":[{"family":"Laterally curved eyebrow"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007733","type":"entry-dictionary","title":"Laterally curved eyebrow"},{"container-title":"HP:0007734","author":[{"family":"enlarged tear gland"},{"family":"Abnormally big lacrimal glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007734","type":"entry-dictionary","title":"Enlarged lacrimal glands"},{"container-title":"HP:0007737","author":[{"family":"bone corpuscle fundus pigmentation"},{"family":"retinal pigmented bone spicules"},{"family":"retinal 'bone corpuscle' pigmentation"},{"family":"retinal bone corpuscle pigmentation"},{"family":"fundus with peripheral bony spicules"},{"family":"Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007737","type":"entry-dictionary","title":"Bone spicule pigmentation of the retina"},{"container-title":"HP:0007738","author":[{"family":"Uncontrolled eye movements"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007738","type":"entry-dictionary","title":"Uncontrolled eye movements"},{"container-title":"HP:0007740","author":[{"family":"long eyelashes in irregular rows"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007740","type":"entry-dictionary","title":"Long eyelashes in irregular rows"},{"container-title":"HP:0007747","author":[{"family":"Monocular horizontal nystagmus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007747","type":"entry-dictionary","title":"Monocular horizontal nystagmus"},{"container-title":"HP:0007750","author":[{"family":"foveal hypoplasia"},{"family":"dull foveal reflex"},{"family":"Underdevelopment of the fovea 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birth"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007758","type":"entry-dictionary","title":"Congenital visual impairment"},{"container-title":"HP:0007759","author":[{"family":"cloudy corneas"},{"family":"corneal stromal opacity"},{"family":"Reduced transparency of the stroma of cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007759","type":"entry-dictionary","title":"Opacification of the corneal stroma"},{"container-title":"HP:0007760","author":[{"family":"Crystalline corneal dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007760","type":"entry-dictionary","title":"Crystalline corneal dystrophy"},{"container-title":"HP:0007761","author":[{"family":"A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007761","type":"entry-dictionary","title":"Pericentral scotoma"},{"container-title":"HP:0007763","author":[{"family":"Dilatation of small blood vessels of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007763","type":"entry-dictionary","title":"Retinal telangiectasia"},{"container-title":"HP:0007765","author":[{"family":"Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007765","type":"entry-dictionary","title":"Deep anterior chamber"},{"container-title":"HP:0007766","author":[{"family":"hypoplastic optic disks"},{"family":"Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007766","type":"entry-dictionary","title":"Optic disc hypoplasia"},{"container-title":"HP:0007768","author":[{"family":"tortuosity of main retinal vessels"},{"family":"The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, 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May be related to calcinosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007799","type":"entry-dictionary","title":"Conjunctival whitish salt-like deposits"},{"container-title":"HP:0007800","author":[{"family":"globe elongated"},{"family":"increased axial globe length"},{"family":"increased front to back length of eyeball"},{"family":"Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007800","type":"entry-dictionary","title":"Increased axial length of the globe"},{"container-title":"HP:0007802","author":[{"family":"The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007802","type":"entry-dictionary","title":"Granular corneal dystrophy"},{"container-title":"HP:0007803","author":[{"family":"total colorblindness"},{"family":"complete achromatopsia"},{"family":"Complete color blindness, a complete inability to distinguish colors. 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Herpetiform corneal ulcers can be identified by fluorescein staining."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007812","type":"entry-dictionary","title":"Herpetiform corneal ulceration"},{"container-title":"HP:0007813","author":[{"family":"A form of uveitis that is not associated with the formation of granulomas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007813","type":"entry-dictionary","title":"Nongranulomatous uveitis"},{"container-title":"HP:0007814","author":[{"family":"focal hypopigmentation of the retinal pigment epithelium"},{"family":"salt and pepper retinal pigmentation"},{"family":"rpe irregularity"},{"family":"salt and pepper retinopathy"},{"family":"retinal pigment epithelium irregularity"},{"family":"rpe mottling"},{"family":"Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007814","type":"entry-dictionary","title":"Retinal pigment epithelial mottling"},{"container-title":"HP:0007815","author":[{"family":"Abnormal distribution of retinal arterioles and venules"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007815","type":"entry-dictionary","title":"Abnormal distribution of retinal arterioles and venules"},{"container-title":"HP:0007817","author":[{"family":"A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007817","type":"entry-dictionary","title":"Horizontal supranuclear gaze palsy"},{"container-title":"HP:0007818","author":[{"family":"ring iris heterochromia"},{"family":"The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007818","type":"entry-dictionary","title":"Central heterochromia"},{"container-title":"HP:0007819","author":[{"family":"presenile cataract"},{"family":"Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007819","type":"entry-dictionary","title":"Presenile cataracts"},{"container-title":"HP:0007820","author":[{"family":"atretic lacrimal puncta"},{"family":"atretic lacrimal punctum"},{"family":"Congenital absence or closure of the opening of the lacrimal punctum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007820","type":"entry-dictionary","title":"Lacrimal punctal atresia"},{"container-title":"HP:0007822","author":[{"family":"Central retinal exudate"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007822","type":"entry-dictionary","title":"Central retinal exudate"},{"container-title":"HP:0007824","author":[{"family":"complete ophthalmoplegia"},{"family":"total internal and external ophthalmoplegia"},{"family":"global paralysis of gaze"},{"family":"Paralysis of both the extrinsic and intrinsic ocular muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007824","type":"entry-dictionary","title":"Total ophthalmoplegia"},{"container-title":"HP:0007827","author":[{"family":"Nodular corneal dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007827","type":"entry-dictionary","title":"Nodular corneal dystrophy"},{"container-title":"HP:0007830","author":[{"family":"adult-onset night blindness"},{"family":"Inability to see well at night or in poor light with onset in adulthood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007830","type":"entry-dictionary","title":"Adult-onset night blindness"},{"container-title":"HP:0007831","author":[{"family":"Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007831","type":"entry-dictionary","title":"Nonprogressive restrictive external ophthalmoplegia"},{"container-title":"HP:0007832","author":[{"family":"pigmentation of the outer white part of the eyeball"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007832","type":"entry-dictionary","title":"Pigmentation of the sclera"},{"container-title":"HP:0007833","author":[{"family":"Anterior chamber synechiae"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007833","type":"entry-dictionary","title":"Anterior chamber synechiae"},{"container-title":"HP:0007834","author":[{"family":"cataract, progressive"},{"family":"A kind of cataract that progresses with age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007834","type":"entry-dictionary","title":"Progressive cataract"},{"container-title":"HP:0007835","author":[{"family":"s-shaped eyes"},{"family":"s-shaped opening between the eyelids"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007835","type":"entry-dictionary","title":"S-shaped palpebral fissures"},{"container-title":"HP:0007836","author":[{"family":"Mosaic corneal dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007836","type":"entry-dictionary","title":"Mosaic corneal dystrophy"},{"container-title":"HP:0007838","author":[{"family":"progressive drooping of upper eyelid"},{"family":"A progressive form of ptosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007838","type":"entry-dictionary","title":"Progressive ptosis"},{"container-title":"HP:0007840","author":[{"family":"long upper eyelashes"},{"family":"ciliary trichomegaly of upper eyelashes"},{"family":"increased length of upper eyelashes"},{"family":"Increased length of the upper eyelashes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007840","type":"entry-dictionary","title":"Long upper eyelashes"},{"container-title":"HP:0007841","author":[{"family":"vitreous amyloid 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defect"},{"container-title":"HP:0007856","author":[{"family":"punctate corneal opacities"},{"family":"Punctate opacification (reduced transparency) of the corneal stroma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007856","type":"entry-dictionary","title":"Punctate opacification of the cornea"},{"container-title":"HP:0007858","author":[{"family":"lacunar retinal depigmentation"},{"family":"Punched out lesions in the pigmented layer of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007858","type":"entry-dictionary","title":"Chorioretinal lacunae"},{"container-title":"HP:0007859","author":[{"family":"Horizontal nystagmus dating from or present at birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007859","type":"entry-dictionary","title":"Congenital horizontal nystagmus"},{"container-title":"HP:0007862","author":[{"family":"Deposition of calcium salts in the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007862","type":"entry-dictionary","title":"Retinal calcification"},{"container-title":"HP:0007866","author":[{"family":"Retinal infarction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007866","type":"entry-dictionary","title":"Retinal infarction"},{"container-title":"HP:0007867","author":[{"family":"Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007867","type":"entry-dictionary","title":"Restrictive partial external ophthalmoplegia"},{"container-title":"HP:0007868","author":[{"family":"senile macular degeneration"},{"family":"armd"},{"family":"amd"},{"family":"Age-related macular degeneration (AMD) is a medical condition which usually affects older adults and results in a loss of vision in the center of the visual field (the macula) because of damage to the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007868","type":"entry-dictionary","title":"Age-related macular degeneration"},{"container-title":"HP:0007872","author":[{"family":"The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007872","type":"entry-dictionary","title":"Choroidal hemangioma"},{"container-title":"HP:0007873","author":[{"family":"prominent schwalbe lines"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007873","type":"entry-dictionary","title":"Abnormally prominent line of Schwalbe"},{"container-title":"HP:0007874","author":[{"family":"almond-shaped opening between the eyelids"},{"family":"almond shaped eyes"},{"family":"A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007874","type":"entry-dictionary","title":"Almond-shaped palpebral fissure"},{"container-title":"HP:0007875","author":[{"family":"blindness present at birth"},{"family":"congenital amaurosis"},{"family":"Blindness with onset at birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007875","type":"entry-dictionary","title":"Congenital blindness"},{"container-title":"HP:0007879","author":[{"family":"Allergic Conjunctivitis is an allergic inflammation of the conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007879","type":"entry-dictionary","title":"Allergic conjunctivitis"},{"container-title":"HP:0007880","author":[{"family":"Marginal corneal dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007880","type":"entry-dictionary","title":"Marginal corneal dystrophy"},{"container-title":"HP:0007881","author":[{"family":"Central corneal dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007881","type":"entry-dictionary","title":"Central corneal dystrophy"},{"container-title":"HP:0007885","author":[{"family":"An abnormally slow velocity of horizontal saccadic eye movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007885","type":"entry-dictionary","title":"Slowed horizontal saccades"},{"container-title":"HP:0007886","author":[{"family":"absent ocular muscles"},{"family":"missing eye muscles"},{"family":"Congenital absence of the extraocular muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007886","type":"entry-dictionary","title":"Absent extraocular muscles"},{"container-title":"HP:0007889","author":[{"family":"cataracts, posterior, subcapsular, iridescent"},{"family":"A type of posterior subcapsular cataract characterized by an iridescent color."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007889","type":"entry-dictionary","title":"Iridescent posterior subcapsular cataract"},{"container-title":"HP:0007892","author":[{"family":"hypoplastic lacrimal puncta"},{"family":"hypoplasia of the lacrimal puncta"},{"family":"Underdevelopment of the lacrimal puncta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007892","type":"entry-dictionary","title":"Hypoplasia of the lacrimal punctum"},{"container-title":"HP:0007893","author":[{"family":"retinal degeneration, progressive"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007893","type":"entry-dictionary","title":"Progressive retinal degeneration"},{"container-title":"HP:0007894","author":[{"family":"fundus hypopigmentation"},{"family":"decreased fundus pigmentation"},{"family":"Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale\/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated\/tigroid)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007894","type":"entry-dictionary","title":"Hypopigmentation of the fundus"},{"container-title":"HP:0007898","author":[{"family":"Exudative retinopathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007898","type":"entry-dictionary","title":"Exudative retinopathy"},{"container-title":"HP:0007899","author":[{"family":"congenital retinal non-attachment"},{"family":"Failure of attachment of the retina during development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007899","type":"entry-dictionary","title":"Retinal nonattachment"},{"container-title":"HP:0007900","author":[{"family":"underdeveloped tear duct"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007900","type":"entry-dictionary","title":"Hypoplastic lacrimal duct"},{"container-title":"HP:0007902","author":[{"family":"vitreous haemorrhage"},{"family":"Bleeding within the vitreous compartment of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007902","type":"entry-dictionary","title":"Vitreous hemorrhage"},{"container-title":"HP:0007903","author":[{"family":"Chorioretinal atrophy along the retinal veins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007903","type":"entry-dictionary","title":"Paravenous chorioretinal atrophy"},{"container-title":"HP:0007905","author":[{"family":"abnormality of iris blood vessels"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007905","type":"entry-dictionary","title":"Abnormal iris vasculature"},{"container-title":"HP:0007906","author":[{"family":"elevated iop"},{"family":"raised intraocular pressure"},{"family":"raised iop"},{"family":"elevated intraocular pressure"},{"family":"increased iop"},{"family":"high eye pressure"},{"family":"An increase in the intraocular pressure which is determined by the balance of aqueous humour inflow and outflow, and that is 2 standard deviations above the population mean."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007906","type":"entry-dictionary","title":"Increased intraocular pressure"},{"container-title":"HP:0007911","author":[{"family":"ptosis, bilateral congenital"},{"family":"ptosis, congenital bilateral"},{"family":"congenital drooping of both upper eyelids"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007911","type":"entry-dictionary","title":"Congenital bilateral ptosis"},{"container-title":"HP:0007913","author":[{"family":"A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007913","type":"entry-dictionary","title":"Reticular retinal dystrophy"},{"container-title":"HP:0007915","author":[{"family":"This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007915","type":"entry-dictionary","title":"Polymorphous posterior corneal dystrophy"},{"container-title":"HP:0007917","author":[{"family":"A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007917","type":"entry-dictionary","title":"Tractional retinal detachment"},{"container-title":"HP:0007922","author":[{"family":"retinal striation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007922","type":"entry-dictionary","title":"Hypermyelinated retinal nerve fibers"},{"container-title":"HP:0007924","author":[{"family":"subacute deterioration of visual acuity"},{"family":"decreased visual acuity, slowly progressive"},{"family":"slow decrease in sharpness of vision"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007924","type":"entry-dictionary","title":"Slow decrease in visual acuity"},{"container-title":"HP:0007925","author":[{"family":"absent tear duct"},{"family":"A congenital defect resulting in absence of the lacrimal duct."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007925","type":"entry-dictionary","title":"Lacrimal duct aplasia"},{"container-title":"HP:0007928","author":[{"family":"Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007928","type":"entry-dictionary","title":"Abnormal flash visual evoked potentials"},{"container-title":"HP:0007929","author":[{"family":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007929","type":"entry-dictionary","title":"Peripheral retinal detachment"},{"container-title":"HP:0007932","author":[{"family":"Congenital abnormal dilation of the pupil on both sides."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007932","type":"entry-dictionary","title":"Bilateral congenital mydriasis"},{"container-title":"HP:0007933","author":[{"family":"wide lateral eyebrow"},{"family":"Regional increase in the width (height) of the lateral eyebrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007933","type":"entry-dictionary","title":"Broad lateral eyebrow"},{"container-title":"HP:0007935","author":[{"family":"Juvenile posterior subcapsular lenticular opacities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007935","type":"entry-dictionary","title":"Juvenile posterior subcapsular lenticular opacities"},{"container-title":"HP:0007936","author":[{"family":"restrictive ophthalmoplegia"},{"family":"restrictive external ophthalmoplegia, bilateral"},{"family":"Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007936","type":"entry-dictionary","title":"Restrictive external ophthalmoplegia"},{"container-title":"HP:0007937","author":[{"family":"fishnet retinal pigmentation"},{"family":"honeycomb retinal degeneration"},{"family":"A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007937","type":"entry-dictionary","title":"Reticular pigmentary degeneration"},{"container-title":"HP:0007939","author":[{"family":"s-cone monochromacy"},{"family":"blue cone monochromatism"},{"family":"incomplete achromatopsia"},{"family":"A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007939","type":"entry-dictionary","title":"Blue cone monochromacy"},{"container-title":"HP:0007941","author":[{"family":"limited extraocular movement"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007941","type":"entry-dictionary","title":"Limited extraocular movements"},{"container-title":"HP:0007942","author":[{"family":"Paralysis of the iris and ciliary apparatus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007942","type":"entry-dictionary","title":"Internal ophthalmoplegia"},{"container-title":"HP:0007943","author":[{"family":"A form of stapes ankylosis with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007943","type":"entry-dictionary","title":"Congenital stapes ankylosis"},{"container-title":"HP:0007944","author":[{"family":"Intermittent microsaccadic pursuits"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007944","type":"entry-dictionary","title":"Intermittent microsaccadic pursuits"},{"container-title":"HP:0007946","author":[{"family":"unequal size of opening between the eyelids"},{"family":"narrow palpebral fissure, unilateral"},{"family":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007946","type":"entry-dictionary","title":"Unilateral narrow palpebral fissure"},{"container-title":"HP:0007947","author":[{"family":"A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007947","type":"entry-dictionary","title":"Pericentral retinitis pigmentosa"},{"container-title":"HP:0007948","author":[{"family":"A type of posterior cortical cataract characterized by dense lenticular opacities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007948","type":"entry-dictionary","title":"Dense posterior cortical cataract"},{"container-title":"HP:0007950","author":[{"family":"Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007950","type":"entry-dictionary","title":"Peripapillary chorioretinal atrophy"},{"container-title":"HP:0007957","author":[{"family":"corneal clouding"},{"family":"corneal opacities"},{"family":"reduction of corneal clarity"},{"family":"A reduction of corneal clarity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007957","type":"entry-dictionary","title":"Corneal opacity"},{"container-title":"HP:0007958","author":[{"family":"Optic atrophy from cranial nerve compression"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007958","type":"entry-dictionary","title":"Optic atrophy from cranial nerve compression"},{"container-title":"HP:0007962","author":[{"family":"Speckled corneal dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007962","type":"entry-dictionary","title":"Speckled corneal dystrophy"},{"container-title":"HP:0007963","author":[{"family":"A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow\/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007963","type":"entry-dictionary","title":"Pattern dystrophy of the retina"},{"container-title":"HP:0007964","author":[{"family":"Degenerative vitreoretinopathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007964","type":"entry-dictionary","title":"Degenerative vitreoretinopathy"},{"container-title":"HP:0007965","author":[{"family":"non-detectable vep"},{"family":"absence of visual evoked potentials"},{"family":"undetectable vep"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007965","type":"entry-dictionary","title":"Undetectable visual evoked potentials"},{"container-title":"HP:0007968","author":[{"family":"persistent hyperplastic primary vitreous"},{"family":"persistent fetal vasculature"},{"family":"persistent hyperplasia of primary vitreous"},{"family":"persistent posterior fetal fibrovascular sheath of the lens"},{"family":"persistent tunica vasculosa lentis"},{"family":"congenital retinal septum"},{"family":"persistent hypertrophic primary vitreous"},{"family":"Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007968","type":"entry-dictionary","title":"Remnants of the hyaloid vascular system"},{"container-title":"HP:0007970","author":[{"family":"congenital drooping upper eyelid"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007970","type":"entry-dictionary","title":"Congenital ptosis"},{"container-title":"HP:0007971","author":[{"family":"congenital lamellar cataracts"},{"family":"A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007971","type":"entry-dictionary","title":"Lamellar cataract"},{"container-title":"HP:0007973","author":[{"family":"retinal dysgenesis"},{"family":"The presence of developmental dysplasia of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007973","type":"entry-dictionary","title":"Retinal dysplasia"},{"container-title":"HP:0007975","author":[{"family":"Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007975","type":"entry-dictionary","title":"Hypometric horizontal saccades"},{"container-title":"HP:0007976","author":[{"family":"cataracts, congenital, cerulean"},{"family":"Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007976","type":"entry-dictionary","title":"Cerulean cataract"},{"container-title":"HP:0007979","author":[{"family":"nystagmus, horizontal gaze-evoked"},{"family":"nystagmus, horizontal, gaze-evoked"},{"family":"Horizontal nystagmus made apparent by looking to the right or to the left."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007979","type":"entry-dictionary","title":"Gaze-evoked horizontal nystagmus"},{"container-title":"HP:0007980","author":[{"family":"Absent retinal pigment epithelium"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007980","type":"entry-dictionary","title":"Absent retinal pigment epithelium"},{"container-title":"HP:0007984","author":[{"family":"electroretinogram: reduced b-wave amplitude"},{"family":"electronegative erg"},{"family":"reduced erg amplitude of b-wave"},{"family":"reduced electroretinogram rod b-wave"},{"family":"reduced amplitude of dark-adapted bright flash electroretinogram b-wave"},{"family":"A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3]."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007984","type":"entry-dictionary","title":"Electronegative electroretinogram"},{"container-title":"HP:0007985","author":[{"family":"blocked retinal artery"},{"family":"Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007985","type":"entry-dictionary","title":"Retinal arteriolar occlusion"},{"container-title":"HP:0007986","author":[{"family":"Increased retinal vascularity"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007986","type":"entry-dictionary","title":"Increased retinal vascularity"},{"container-title":"HP:0007987","author":[{"family":"Progressive visual field defects"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007987","type":"entry-dictionary","title":"Progressive visual field defects"},{"container-title":"HP:0007988","author":[{"family":"Decreased amount of pigmentation in the macula lutea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007988","type":"entry-dictionary","title":"Macular hypopigmentation"},{"container-title":"HP:0007989","author":[{"family":"Retinal exudate within the retinal tissue itself."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007989","type":"entry-dictionary","title":"Intraretinal exudate"},{"container-title":"HP:0007990","author":[{"family":"underdeveloped iris stroma"},{"family":"iris stromal hypoplasia"},{"family":"hypoplastic iris stoma"},{"family":"Underdevelopment of the stroma of iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007990","type":"entry-dictionary","title":"Hypoplastic iris stroma"},{"container-title":"HP:0007992","author":[{"family":"Lattice retinal degeneration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007992","type":"entry-dictionary","title":"Lattice retinal degeneration"},{"container-title":"HP:0007993","author":[{"family":"malformed tear ducts"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007993","type":"entry-dictionary","title":"Malformed lacrimal ducts"},{"container-title":"HP:0007994","author":[{"family":"kalnienk vision"},{"family":"tunnel vision"},{"family":"loss of peripheral vision"},{"family":"Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0007994","type":"entry-dictionary","title":"Peripheral visual field loss"},{"container-title":"HP:0008000","author":[{"family":"decreased blink reflex"},{"family":"reduced corneal reflex"},{"family":"An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008000","type":"entry-dictionary","title":"Decreased corneal reflex"},{"container-title":"HP:0008001","author":[{"family":"Increased amount of pigmentation in the fovea centralis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008001","type":"entry-dictionary","title":"Foveal hyperpigmentation"},{"container-title":"HP:0008002","author":[{"family":"macular pigmentary changes"},{"family":"Abnormality of macular or foveal pigmentation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008002","type":"entry-dictionary","title":"Abnormality of macular pigmentation"},{"container-title":"HP:0008003","author":[{"family":"jerky smooth pursuit"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008003","type":"entry-dictionary","title":"Jerky ocular pursuit movements"},{"container-title":"HP:0008005","author":[{"family":"Congenital corneal dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008005","type":"entry-dictionary","title":"Congenital corneal dystrophy"},{"container-title":"HP:0008007","author":[{"family":"Primary congenital glaucoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008007","type":"entry-dictionary","title":"Primary congenital glaucoma"},{"container-title":"HP:0008009","author":[{"family":"triple row of eyelashes"},{"family":"three rows of eyelashes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008009","type":"entry-dictionary","title":"Three rows of eyelashes"},{"container-title":"HP:0008011","author":[{"family":"peripheral corneal opacity"},{"family":"Reduced transparency of the peripheral region of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008011","type":"entry-dictionary","title":"Peripheral opacification of the cornea"},{"container-title":"HP:0008012","author":[{"family":"nearsightedness since birth"},{"family":"Myopia apparent at birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008012","type":"entry-dictionary","title":"Congenital myopia"},{"container-title":"HP:0008014","author":[{"family":"Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008014","type":"entry-dictionary","title":"Central fundal arteriolar microaneurysms"},{"container-title":"HP:0008019","author":[{"family":"superior subluxated lens"},{"family":"Partial dislocation of the lens in a superior direction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008019","type":"entry-dictionary","title":"Superior lens subluxation"},{"container-title":"HP:0008020","author":[{"family":"progressive cone dystrophy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008020","type":"entry-dictionary","title":"Progressive cone degeneration"},{"container-title":"HP:0008024","author":[{"family":"A type of congenital cataract in which the opacities are confined to a small central area within the embryonic or fetal nuclei of the Iens. The remaining lens is clear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008024","type":"entry-dictionary","title":"Congenital nuclear cataract"},{"container-title":"HP:0008026","author":[{"family":"Horizontal opticokinetic nystagmus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008026","type":"entry-dictionary","title":"Horizontal opticokinetic nystagmus"},{"container-title":"HP:0008028","author":[{"family":"cystic macular degeneration"},{"family":"A form of macular degeneration characterized by the presence of multiple cysts in the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008028","type":"entry-dictionary","title":"Cystoid macular degeneration"},{"container-title":"HP:0008030","author":[{"family":"retinal vaculitis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008030","type":"entry-dictionary","title":"Retinal arteritis"},{"container-title":"HP:0008031","author":[{"family":"posterior y-sutural cataracts"},{"family":"A type of sutural cataract in which the opacity follows the posterior Y suture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008031","type":"entry-dictionary","title":"Posterior Y-sutural cataract"},{"container-title":"HP:0008033","author":[{"family":"Congenital exotropia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008033","type":"entry-dictionary","title":"Congenital exotropia"},{"container-title":"HP:0008034","author":[{"family":"Abnormal pigmentation of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008034","type":"entry-dictionary","title":"Abnormal iris pigmentation"},{"container-title":"HP:0008035","author":[{"family":"central retinitis pigmentosa"},{"family":"Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal\/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008035","type":"entry-dictionary","title":"Retinitis pigmentosa inversa"},{"container-title":"HP:0008037","author":[{"family":"Absence of the anterior chamber of the eye owing to a developmental defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008037","type":"entry-dictionary","title":"Absent anterior chamber of the eye"},{"container-title":"HP:0008038","author":[{"family":"absent\/underdeveloped tear glands"},{"family":"absent\/underdeveloped lacrimal glands"},{"family":"Absence or underdevelopment of the lacrimal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008038","type":"entry-dictionary","title":"Aplastic\/hypoplastic lacrimal glands"},{"container-title":"HP:0008039","author":[{"family":"Subepithelial corneal opacities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008039","type":"entry-dictionary","title":"Subepithelial corneal opacities"},{"container-title":"HP:0008041","author":[{"family":"Late onset congenital glaucoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008041","type":"entry-dictionary","title":"Late onset congenital glaucoma"},{"container-title":"HP:0008043","author":[{"family":"narrow retinal arterioles"},{"family":"constricted retinal arterioles"},{"family":"retinal arteriolar narrowing"},{"family":"Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008043","type":"entry-dictionary","title":"Retinal arteriolar constriction"},{"container-title":"HP:0008045","author":[{"family":"high flash visual evoked potentials"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008045","type":"entry-dictionary","title":"Enlarged flash visual evoked potentials"},{"container-title":"HP:0008046","author":[{"family":"abnormality of retina blood vessels"},{"family":"An arterial or venous retinal vascular anomaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008046","type":"entry-dictionary","title":"Abnormality of the retinal vasculature"},{"container-title":"HP:0008047","author":[{"family":"abnormality of eye blood vessels"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008047","type":"entry-dictionary","title":"Abnormality of the vasculature of the eye"},{"container-title":"HP:0008048","author":[{"family":"An abnormality of the line of Schwalbe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008048","type":"entry-dictionary","title":"Abnormality of the line of Schwalbe"},{"container-title":"HP:0008049","author":[{"family":"An abnormality of an extraocular muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008049","type":"entry-dictionary","title":"Abnormality of the extraocular muscles"},{"container-title":"HP:0008050","author":[{"family":"abnormality of the palpebral fissures"},{"family":"abnormality of the opening between the eyelids"},{"family":"deformity of the palpebral fissures"},{"family":"malformation of the palpebral fissures"},{"family":"An anomaly of the space between the medial and lateral canthi of the two open eyelids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008050","type":"entry-dictionary","title":"Abnormality of the palpebral fissures"},{"container-title":"HP:0008052","author":[{"family":"retinal folds"},{"family":"A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008052","type":"entry-dictionary","title":"Retinal fold"},{"container-title":"HP:0008053","author":[{"family":"absent\/underdeveloped iris"},{"family":"absent\/small iris"},{"family":"Absence or underdevelopment of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008053","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the iris"},{"container-title":"HP:0008054","author":[{"family":"abnormality of the vasculature of the conjunctiva"},{"family":"Any abnormality of the blood vessels of the conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008054","type":"entry-dictionary","title":"Abnormal morphology of the vasculature of the conjunctiva"},{"container-title":"HP:0008055","author":[{"family":"absent\/underdeveloped uvea"},{"family":"Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008055","type":"entry-dictionary","title":"Aplasia\/Hypoplasia affecting the uvea"},{"container-title":"HP:0008056","author":[{"family":"absent\/small eye"},{"family":"absent\/underdeveloped eye"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008056","type":"entry-dictionary","title":"Aplasia\/Hypoplasia affecting the eye"},{"container-title":"HP:0008057","author":[{"family":"absent\/small fundus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008057","type":"entry-dictionary","title":"Aplasia\/Hypoplasia affecting the fundus"},{"container-title":"HP:0008058","author":[{"family":"absent\/small optic nerve"},{"family":"absent\/underdeveloped optic nerve"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008058","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the optic nerve"},{"container-title":"HP:0008059","author":[{"family":"absent\/underdeveloped macula"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008059","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the macula"},{"container-title":"HP:0008060","author":[{"family":"absent\/underdeveloped fovea"},{"family":"Congenital absence or underdevelopment of the fovea centralis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008060","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the fovea"},{"container-title":"HP:0008061","author":[{"family":"absent\/underdeveloped 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cavus that is progressive with age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008075","type":"entry-dictionary","title":"Progressive pes cavus"},{"container-title":"HP:0008076","author":[{"family":"Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008076","type":"entry-dictionary","title":"Osteoporotic tarsals"},{"container-title":"HP:0008078","author":[{"family":"Thin metatarsal cortices"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008078","type":"entry-dictionary","title":"Thin metatarsal cortices"},{"container-title":"HP:0008079","author":[{"family":"absent 5th metatarsals"},{"family":"aplasia of the fifth metatarsal bone"},{"family":"absent 5th long bone of foot"},{"family":"A developmental abnormality characterized by the absence of the fifth metatarsal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008079","type":"entry-dictionary","title":"Absent fifth metatarsal"},{"container-title":"HP:0008080","author":[{"family":"medially deviated halluces"},{"family":"Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008080","type":"entry-dictionary","title":"Hallux varus"},{"container-title":"HP:0008081","author":[{"family":"valgus foot deformity"},{"family":"An outward deviation of the foot at the talocalcaneal or subtalar joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008081","type":"entry-dictionary","title":"Pes valgus"},{"container-title":"HP:0008082","author":[{"family":"Medial deviation of the foot"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008082","type":"entry-dictionary","title":"Medial deviation of the foot"},{"container-title":"HP:0008083","author":[{"family":"underdeveloped 2nd-5th middle toe 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toe"},{"family":"short fourth toe"},{"family":"Underdevelopment (hypoplasia) of the fourth toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008093","type":"entry-dictionary","title":"Short 4th toe"},{"container-title":"HP:0008094","author":[{"family":"widely spaced toes"},{"family":"An overall widening of the spaces between the digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008094","type":"entry-dictionary","title":"Widely spaced toes"},{"container-title":"HP:0008095","author":[{"family":"osteolysis of tali"},{"family":"Osteolysis affecting the talus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008095","type":"entry-dictionary","title":"Osteolysis of talus"},{"container-title":"HP:0008096","author":[{"family":"Medial deviation of the second toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008096","type":"entry-dictionary","title":"Medially deviated second toe"},{"container-title":"HP:0008097","author":[{"family":"Partial fusion of tarsals"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008097","type":"entry-dictionary","title":"Partial fusion of tarsals"},{"container-title":"HP:0008102","author":[{"family":"Expanded metatarsals with widened medullary cavities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008102","type":"entry-dictionary","title":"Expanded metatarsals with widened medullary cavities"},{"container-title":"HP:0008103","author":[{"family":"tarsal delayed ossification"},{"family":"delayed ankle bone maturation"},{"family":"Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008103","type":"entry-dictionary","title":"Delayed tarsal ossification"},{"container-title":"HP:0008107","author":[{"family":"The presence of unusually deep creases (ridges\/wrinkles) on the skin of sole of foot located between the first and second toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008107","type":"entry-dictionary","title":"Plantar crease between first and second toes"},{"container-title":"HP:0008108","author":[{"family":"accelerated ankle bone maturation"},{"family":"precociously ossified tarsal bones"},{"family":"Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008108","type":"entry-dictionary","title":"Advanced tarsal ossification"},{"container-title":"HP:0008110","author":[{"family":"Equinovarus deformity"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008110","type":"entry-dictionary","title":"Equinovarus deformity"},{"container-title":"HP:0008111","author":[{"family":"broad distal big toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008111","type":"entry-dictionary","title":"Broad distal hallux"},{"container-title":"HP:0008112","author":[{"family":"Plantar flexion contractures"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008112","type":"entry-dictionary","title":"Plantar flexion contractures"},{"container-title":"HP:0008113","author":[{"family":"Multiple plantar creases"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008113","type":"entry-dictionary","title":"Multiple plantar creases"},{"container-title":"HP:0008114","author":[{"family":"Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008114","type":"entry-dictionary","title":"Metatarsal diaphyseal endosteal sclerosis"},{"container-title":"HP:0008115","author":[{"family":"3rd toe clinodactyly"},{"family":"curvature of 3rd toe"},{"family":"Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008115","type":"entry-dictionary","title":"Clinodactyly of the 3rd toe"},{"container-title":"HP:0008116","author":[{"family":"Limitation of the ability to bend the toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008116","type":"entry-dictionary","title":"Flexion limitation of toes"},{"container-title":"HP:0008117","author":[{"family":"Shortening of the talar neck"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008117","type":"entry-dictionary","title":"Shortening of the talar neck"},{"container-title":"HP:0008119","author":[{"family":"deformed ankle bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008119","type":"entry-dictionary","title":"Deformed tarsal bones"},{"container-title":"HP:0008122","author":[{"family":"Synostosis of the calcaneus with the navicular bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008122","type":"entry-dictionary","title":"Calcaneonavicular fusion"},{"container-title":"HP:0008124","author":[{"family":"A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008124","type":"entry-dictionary","title":"Talipes calcaneovarus"},{"container-title":"HP:0008125","author":[{"family":"Second metatarsal posteriorly placed"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008125","type":"entry-dictionary","title":"Second metatarsal posteriorly placed"},{"container-title":"HP:0008127","author":[{"family":"delayed fusion of bipartite calcanei"},{"family":"delayed coalescence of calcaneal ossification centers"},{"family":"double calcaneal ossification center"},{"family":"extra calcaneal ossification center"},{"family":"delayed coalescence of bipartite calcanei"},{"family":"A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008127","type":"entry-dictionary","title":"Bipartite calcaneus"},{"container-title":"HP:0008131","author":[{"family":"punctate tarsal calcification"},{"family":"punctate calcifications of tarsals"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008131","type":"entry-dictionary","title":"Tarsal stippling"},{"container-title":"HP:0008132","author":[{"family":"Medial rotation of the medial malleolus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008132","type":"entry-dictionary","title":"Medial rotation of the medial malleolus"},{"container-title":"HP:0008133","author":[{"family":"Distal tapering of metatarsals"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008133","type":"entry-dictionary","title":"Distal tapering of metatarsals"},{"container-title":"HP:0008134","author":[{"family":"irregular ankle bone maturation"},{"family":"irregular tarsal centers"},{"family":"Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008134","type":"entry-dictionary","title":"Irregular tarsal ossification"},{"container-title":"HP:0008138","author":[{"family":"hindfoot equinus"},{"family":"equinus deformity of the calcaneus"},{"family":"Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008138","type":"entry-dictionary","title":"Equinus calcaneus"},{"container-title":"HP:0008141","author":[{"family":"dislocation of toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008141","type":"entry-dictionary","title":"Dislocation of toes"},{"container-title":"HP:0008142","author":[{"family":"delayed heel bone maturation"},{"family":"Delayed maturation and calcification of the calcaneus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008142","type":"entry-dictionary","title":"Delayed calcaneal ossification"},{"container-title":"HP:0008144","author":[{"family":"Flattening of the talar dome"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008144","type":"entry-dictionary","title":"Flattening of the talar dome"},{"container-title":"HP:0008148","author":[{"family":"Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008148","type":"entry-dictionary","title":"Impaired epinephrine-induced platelet aggregation"},{"container-title":"HP:0008150","author":[{"family":"Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008150","type":"entry-dictionary","title":"Elevated serum transaminases during infections"},{"container-title":"HP:0008151","author":[{"family":"Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008151","type":"entry-dictionary","title":"Prolonged prothrombin time"},{"container-title":"HP:0008153","author":[{"family":"hypokalemic periodic paresis"},{"family":"Episodes of muscle weakness associated with reduced levels of potassium in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008153","type":"entry-dictionary","title":"Periodic hypokalemic paresis"},{"container-title":"HP:0008155","author":[{"family":"Excessive amounts of mucopolysaccharide in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008155","type":"entry-dictionary","title":"Mucopolysacchariduria"},{"container-title":"HP:0008158","author":[{"family":"Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008158","type":"entry-dictionary","title":"Hyperapobetalipoproteinemia"},{"container-title":"HP:0008160","author":[{"family":"An increase in the level of 3-hydroxydicarboxylic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008160","type":"entry-dictionary","title":"3-hydroxydicarboxylic aciduria"},{"container-title":"HP:0008161","author":[{"family":"A decrease in alkaline phosphatase activity measured within leukocytes below detectable levels ."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008161","type":"entry-dictionary","title":"Absent leukocyte alkaline phosphatase"},{"container-title":"HP:0008162","author":[{"family":"hyperammonemia, asymptomatic"},{"family":"An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008162","type":"entry-dictionary","title":"Asymptomatic hyperammonemia"},{"container-title":"HP:0008163","author":[{"family":"hypocortisolemia"},{"family":"plasma cortisol low"},{"family":"glucocorticoid insufficiency"},{"family":"decreased cortisol production"},{"family":"hypocortisolism"},{"family":"low to undetectable plasma cortisol"},{"family":"Abnormally reduced concentration of cortisol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008163","type":"entry-dictionary","title":"Decreased circulating cortisol level"},{"container-title":"HP:0008165","author":[{"family":"Reduced proportion of helper T cells relative to the total number of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008165","type":"entry-dictionary","title":"Decreased proportion circulating T-helper cells"},{"container-title":"HP:0008166","author":[{"family":"beta-galactosidase deficiency in fibroblasts and white blood cells"},{"family":"decreased beta galactosidase activity"},{"family":"beta-galactosidase-1 deficiency"},{"family":"Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008166","type":"entry-dictionary","title":"Decreased beta-galactosidase activity"},{"container-title":"HP:0008167","author":[{"family":"Very long chain fatty acid accumulation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008167","type":"entry-dictionary","title":"Very long chain fatty acid accumulation"},{"container-title":"HP:0008169","author":[{"family":"factor vii deficiency"},{"family":"Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008169","type":"entry-dictionary","title":"Reduced factor VII activity"},{"container-title":"HP:0008176","author":[{"family":"Neonatal unconjugated hyperbilirubinemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008176","type":"entry-dictionary","title":"Neonatal unconjugated hyperbilirubinemia"},{"container-title":"HP:0008178","author":[{"family":"Abnormal cartilage matrix"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008178","type":"entry-dictionary","title":"Abnormal cartilage matrix"},{"container-title":"HP:0008179","author":[{"family":"decreased arden ratio of eog"},{"family":"An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008179","type":"entry-dictionary","title":"Decreased Arden ratio of electrooculogram"},{"container-title":"HP:0008180","author":[{"family":"mildly increased serum creatine kinase"},{"family":"moderately increased serum creatine kinase"},{"family":"mildly increased creatine kinase"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008180","type":"entry-dictionary","title":"Mildly elevated creatine phosphokinase"},{"container-title":"HP:0008181","author":[{"family":"An absence of low-density lipoprotein cholesterol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008181","type":"entry-dictionary","title":"Abetalipoproteinemia"},{"container-title":"HP:0008182","author":[{"family":"small adrenal cortex"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008182","type":"entry-dictionary","title":"Adrenocortical hypoplasia"},{"container-title":"HP:0008185","author":[{"family":"male precocious puberty"},{"family":"early onset of puberty in males"},{"family":"The onset of puberty before the age of 9 years in boys."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008185","type":"entry-dictionary","title":"Precocious puberty in males"},{"container-title":"HP:0008186","author":[{"family":"The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008186","type":"entry-dictionary","title":"Adrenocortical cytomegaly"},{"container-title":"HP:0008187","author":[{"family":"no secondary sexual characteristics at puberty"},{"family":"No secondary sexual characteristics are present at puberty."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008187","type":"entry-dictionary","title":"Absence of secondary sex characteristics"},{"container-title":"HP:0008188","author":[{"family":"thyroid dysplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008188","type":"entry-dictionary","title":"Thyroid dysgenesis"},{"container-title":"HP:0008189","author":[{"family":"Decreased sensitivity toward insulin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008189","type":"entry-dictionary","title":"Insulin insensitivity"},{"container-title":"HP:0008191","author":[{"family":"athyroidal hypothyroidism"},{"family":"The congenital absence of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008191","type":"entry-dictionary","title":"Thyroid agenesis"},{"container-title":"HP:0008193","author":[{"family":"Primary gonadal insufficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008193","type":"entry-dictionary","title":"Primary gonadal insufficiency"},{"container-title":"HP:0008194","author":[{"family":"The presence of multiple pancreatic islet cell adenomas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008194","type":"entry-dictionary","title":"Multiple pancreatic beta-cell adenomas"},{"container-title":"HP:0008197","author":[{"family":"Absence of pubertal development"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008197","type":"entry-dictionary","title":"Absence of pubertal development"},{"container-title":"HP:0008198","author":[{"family":"neonatal hypoparathyroidism"},{"family":"Deficiency of parathyroid hormone with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008198","type":"entry-dictionary","title":"Congenital hypoparathyroidism"},{"container-title":"HP:0008200","author":[{"family":"A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008200","type":"entry-dictionary","title":"Primary hyperparathyroidism"},{"container-title":"HP:0008202","author":[{"family":"A reduced ability to secrete prolactin, a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008202","type":"entry-dictionary","title":"Prolactin deficiency"},{"container-title":"HP:0008204","author":[{"family":"Precocious puberty with Sertoli cell tumor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008204","type":"entry-dictionary","title":"Precocious puberty with Sertoli cell tumor"},{"container-title":"HP:0008205","author":[{"family":"Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008205","type":"entry-dictionary","title":"Insulin-dependent but ketosis-resistant diabetes"},{"container-title":"HP:0008207","author":[{"family":"addison's disease"},{"family":"addison disease"},{"family":"primary adrenocortical failure"},{"family":"adrenocortical insufficiency"},{"family":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008207","type":"entry-dictionary","title":"Primary adrenal insufficiency"},{"container-title":"HP:0008208","author":[{"family":"enlarged parathyroid glands"},{"family":"Hyperplasia of the parathyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008208","type":"entry-dictionary","title":"Parathyroid hyperplasia"},{"container-title":"HP:0008209","author":[{"family":"hypergonadotropic amenorrhea"},{"family":"early menopause"},{"family":"menopause praecox"},{"family":"primary ovarian insufficiency"},{"family":"premature menopause"},{"family":"premature ovarian failure"},{"family":"climacterium praecox"},{"family":"Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008209","type":"entry-dictionary","title":"Premature ovarian insufficiency"},{"container-title":"HP:0008211","author":[{"family":"parathyroid absence"},{"family":"parathyroid aplasia"},{"family":"Aplasia of the parathyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008211","type":"entry-dictionary","title":"Parathyroid agenesis"},{"container-title":"HP:0008213","author":[{"family":"pituitary gonadotropin deficiency"},{"family":"A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008213","type":"entry-dictionary","title":"Gonadotropin deficiency"},{"container-title":"HP:0008214","author":[{"family":"decreased serum estradiol"},{"family":"A reduction below normal concentration of estradiol in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008214","type":"entry-dictionary","title":"Decreased serum estradiol"},{"container-title":"HP:0008216","author":[{"family":"dysplastic adrenal glands"},{"family":"adrenal gland dysplasia"},{"family":"Abnormal development of the adrenal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008216","type":"entry-dictionary","title":"Adrenal gland dysgenesis"},{"container-title":"HP:0008221","author":[{"family":"enlarged adrenal glands"},{"family":"Enlargement of the adrenal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008221","type":"entry-dictionary","title":"Adrenal hyperplasia"},{"container-title":"HP:0008222","author":[{"family":"female infertility"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008222","type":"entry-dictionary","title":"Female infertility"},{"container-title":"HP:0008223","author":[{"family":"Compensated hypothyroidism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008223","type":"entry-dictionary","title":"Compensated hypothyroidism"},{"container-title":"HP:0008225","author":[{"family":"Thyroid follicular hyperplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008225","type":"entry-dictionary","title":"Thyroid follicular hyperplasia"},{"container-title":"HP:0008226","author":[{"family":"hypoandrogenism"},{"family":"Insufficient amount of androgenic activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008226","type":"entry-dictionary","title":"Androgen insufficiency"},{"container-title":"HP:0008227","author":[{"family":"A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008227","type":"entry-dictionary","title":"Pituitary resistance to thyroid hormone"},{"container-title":"HP:0008229","author":[{"family":"thyroid lymphangiectasis"},{"family":"The presence of lymphangiectasis of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008229","type":"entry-dictionary","title":"Thyroid lymphangiectasia"},{"container-title":"HP:0008230","author":[{"family":"Decreased testosterone in males"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008230","type":"entry-dictionary","title":"Decreased testosterone in males"},{"container-title":"HP:0008231","author":[{"family":"Macronodular adrenal hyperplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008231","type":"entry-dictionary","title":"Macronodular adrenal hyperplasia"},{"container-title":"HP:0008232","author":[{"family":"elevated follicle stimulating hormone"},{"family":"elevated fsh level"},{"family":"increased circulating follicle stimulating hormone level"},{"family":"elevated plasma follicle stimulating hormone"},{"family":"elevated follicle-stimulating hormone"},{"family":"An elevated concentration of follicle-stimulating hormone in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008232","type":"entry-dictionary","title":"Elevated circulating follicle stimulating hormone level"},{"container-title":"HP:0008233","author":[{"family":"decreased serum progesterone"},{"family":"An reduced concentration of progesterone in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008233","type":"entry-dictionary","title":"Decreased circulating progesterone"},{"container-title":"HP:0008236","author":[{"family":"Isosexual precocious puberty"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008236","type":"entry-dictionary","title":"Isosexual precocious puberty"},{"container-title":"HP:0008237","author":[{"family":"tertiary hypothyroidism"},{"family":"A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008237","type":"entry-dictionary","title":"Hypothalamic hypothyroidism"},{"container-title":"HP:0008239","author":[{"family":"small adrenal medulla"},{"family":"Developmental hypoplasia of the adrenal medulla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008239","type":"entry-dictionary","title":"Adrenal medullary hypoplasia"},{"container-title":"HP:0008240","author":[{"family":"Secondary growth hormone deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008240","type":"entry-dictionary","title":"Secondary growth hormone deficiency"},{"container-title":"HP:0008242","author":[{"family":"A state of renal tubular unresponsiveness or resistance to the action of aldosterone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008242","type":"entry-dictionary","title":"Pseudohypoaldosteronism"},{"container-title":"HP:0008244","author":[{"family":"congenital adrenal gland hypoplasia"},{"family":"A type of adrenal hypoplasia with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008244","type":"entry-dictionary","title":"Congenital adrenal hypoplasia"},{"container-title":"HP:0008245","author":[{"family":"secondary hypothyroidism"},{"family":"tsh deficient hypothyroidism"},{"family":"thyrotropin deficiency"},{"family":"thyroid stimulating hormone deficiency"},{"family":"A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008245","type":"entry-dictionary","title":"Pituitary hypothyroidism"},{"container-title":"HP:0008247","author":[{"family":"asymptomatic hyperthyroxinemia"},{"family":"An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008247","type":"entry-dictionary","title":"Euthyroid hyperthyroxinemia"},{"container-title":"HP:0008249","author":[{"family":"large thyroid"},{"family":"Hyperplasia of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008249","type":"entry-dictionary","title":"Thyroid hyperplasia"},{"container-title":"HP:0008250","author":[{"family":"Infantile hypercalcemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008250","type":"entry-dictionary","title":"Infantile hypercalcemia"},{"container-title":"HP:0008251","author":[{"family":"An enlargement of the thyroid gland with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008251","type":"entry-dictionary","title":"Congenital goiter"},{"container-title":"HP:0008255","author":[{"family":"Transient neonatal diabetes mellitus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008255","type":"entry-dictionary","title":"Transient neonatal diabetes mellitus"},{"container-title":"HP:0008256","author":[{"family":"adrenocortical adenomas"},{"family":"Adrenocortical adenomas are benign tumors of the adrenal cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008256","type":"entry-dictionary","title":"Adrenocortical adenoma"},{"container-title":"HP:0008258","author":[{"family":"A type of adrenal hyperplasia with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008258","type":"entry-dictionary","title":"Congenital adrenal hyperplasia"},{"container-title":"HP:0008259","author":[{"family":"acth receptor defect"},{"family":"acthr defect"},{"family":"adrenocorticotropic hormone-resistant adrenal insufficiency"},{"family":"Adrenal insufficiency secondary to a defect in the ACTH receptor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008259","type":"entry-dictionary","title":"Adrenocorticotropin receptor defect"},{"container-title":"HP:0008261","author":[{"family":"The presence of an adenoma of the pancreas with origin in a pancreatic B cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008261","type":"entry-dictionary","title":"Pancreatic islet cell adenoma"},{"container-title":"HP:0008263","author":[{"family":"Thyroid defect in oxidation and organification of iodide"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008263","type":"entry-dictionary","title":"Thyroid defect in oxidation and organification of iodide"},{"container-title":"HP:0008264","author":[{"family":"The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008264","type":"entry-dictionary","title":"Neutrophil inclusion bodies"},{"container-title":"HP:0008265","author":[{"family":"Mitochondrial lysine transport defect"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008265","type":"entry-dictionary","title":"Mitochondrial lysine transport defect"},{"container-title":"HP:0008269","author":[{"family":"Increased red cell hemolysis by shear stress"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008269","type":"entry-dictionary","title":"Increased red cell hemolysis by shear stress"},{"container-title":"HP:0008271","author":[{"family":"abnormal type ii collagen"},{"family":"abnormal hyaline collagen"},{"family":"Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008271","type":"entry-dictionary","title":"Abnormal cartilage collagen"},{"container-title":"HP:0008272","author":[{"family":"Renal tubular lysine transport defect"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008272","type":"entry-dictionary","title":"Renal tubular lysine transport defect"},{"container-title":"HP:0008273","author":[{"family":"Transient aminoaciduria"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008273","type":"entry-dictionary","title":"Transient aminoaciduria"},{"container-title":"HP:0008275","author":[{"family":"abnormal cone-mediated electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008275","type":"entry-dictionary","title":"Abnormal light-adapted electroretinogram"},{"container-title":"HP:0008277","author":[{"family":"abnormal zinc metabolism"},{"family":"An abnormality of zinc ion homeostasis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008277","type":"entry-dictionary","title":"Abnormality of zinc homeostasis"},{"container-title":"HP:0008278","author":[{"family":"cerebellar cortex degeneration"},{"family":"Atrophy (wasting) of the cerebellar cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008278","type":"entry-dictionary","title":"Cerebellar cortical atrophy"},{"container-title":"HP:0008279","author":[{"family":"Transient hyperlipidemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008279","type":"entry-dictionary","title":"Transient hyperlipidemia"},{"container-title":"HP:0008281","author":[{"family":"hyperammonemia, acute"},{"family":"An increased concentration of ammonia in the blood with sudden onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008281","type":"entry-dictionary","title":"Acute hyperammonemia"},{"container-title":"HP:0008282","author":[{"family":"An increased amount of unconjugated (indirect) bilurubin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008282","type":"entry-dictionary","title":"Unconjugated hyperbilirubinemia"},{"container-title":"HP:0008283","author":[{"family":"high blood insulin levels while fasting"},{"family":"An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008283","type":"entry-dictionary","title":"Fasting hyperinsulinemia"},{"container-title":"HP:0008285","author":[{"family":"Transient hypophosphatemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008285","type":"entry-dictionary","title":"Transient hypophosphatemia"},{"container-title":"HP:0008288","author":[{"family":"Nonketotic hyperglycinemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008288","type":"entry-dictionary","title":"Nonketotic hyperglycinemia"},{"container-title":"HP:0008290","author":[{"family":"A partial reduction in level of the complement component Factor H in circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008290","type":"entry-dictionary","title":"Partial complement factor H deficiency"},{"container-title":"HP:0008291","author":[{"family":"acth-producing pituitary adenoma"},{"family":"corticotropin-secreting pituitary adenoma"},{"family":"A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008291","type":"entry-dictionary","title":"Pituitary corticotropic cell adenoma"},{"container-title":"HP:0008293","author":[{"family":"An increase in the level of long-chain dicarboxylic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008293","type":"entry-dictionary","title":"Long-chain dicarboxylic aciduria"},{"container-title":"HP:0008297","author":[{"family":"A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008297","type":"entry-dictionary","title":"Transient hyperphenylalaninemia"},{"container-title":"HP:0008301","author":[{"family":"An increased concentration of dermatan sulfate in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008301","type":"entry-dictionary","title":"Dermatan sulfate excretion in urine"},{"container-title":"HP:0008303","author":[{"family":"Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008303","type":"entry-dictionary","title":"Olivary degeneration"},{"container-title":"HP:0008305","author":[{"family":"exercise-induced myoglobinuria in adults"},{"family":"Presence of myoglobin in the urine following exercise."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008305","type":"entry-dictionary","title":"Exercise-induced myoglobinuria"},{"container-title":"HP:0008306","author":[{"family":"Abnormal iron deposition in mitochondria"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008306","type":"entry-dictionary","title":"Abnormal iron deposition in mitochondria"},{"container-title":"HP:0008309","author":[{"family":"An increase in the level of medium chain dicarboxylic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008309","type":"entry-dictionary","title":"Medium chain dicarboxylic aciduria"},{"container-title":"HP:0008311","author":[{"family":"Spinal cord posterior columns myelin loss"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008311","type":"entry-dictionary","title":"Spinal cord posterior columns myelin loss"},{"container-title":"HP:0008314","author":[{"family":"respiratory complex ii deficiency"},{"family":"A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008314","type":"entry-dictionary","title":"Decreased activity of mitochondrial complex II"},{"container-title":"HP:0008315","author":[{"family":"A decreased concentration of free (unbound) carnitine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008315","type":"entry-dictionary","title":"Decreased plasma free carnitine"},{"container-title":"HP:0008316","author":[{"family":"abnormal mitochondria in muscle"},{"family":"An abnormality of the mitochondria in muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008316","type":"entry-dictionary","title":"Abnormal mitochondria in muscle tissue"},{"container-title":"HP:0008318","author":[{"family":"An increased alkaline phosphatase activity measured within leukocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008318","type":"entry-dictionary","title":"Elevated leukocyte alkaline phosphatase"},{"container-title":"HP:0008320","author":[{"family":"Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008320","type":"entry-dictionary","title":"Impaired collagen-induced platelet aggregation"},{"container-title":"HP:0008321","author":[{"family":"factor x deficiency"},{"family":"decreased factor x activity"},{"family":"Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008321","type":"entry-dictionary","title":"Reduced factor X activity"},{"container-title":"HP:0008322","author":[{"family":"abnormal mitochondrion morphology"},{"family":"Any structural anomaly of the mitochondria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008322","type":"entry-dictionary","title":"Abnormal mitochondrial morphology"},{"container-title":"HP:0008323","author":[{"family":"abnormal rod and cone electroretinogram"},{"family":"An abnormality of the combined rod-and-code response on electroretinogram."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008323","type":"entry-dictionary","title":"Abnormal light- and dark-adapted electroretinogram"},{"container-title":"HP:0008326","author":[{"family":"reduced vitamin b6 levels"},{"family":"vitamin b6 deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008326","type":"entry-dictionary","title":"Vitamin B6 deficiency"},{"container-title":"HP:0008327","author":[{"family":"The presence of microscopic crystalline calcium precipitates in the form of oxalate and\/or phosphate in the renal parenchyma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008327","type":"entry-dictionary","title":"Microscopic nephrocalcinosis"},{"container-title":"HP:0008330","author":[{"family":"decreased von willebrand factor activity"},{"family":"Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008330","type":"entry-dictionary","title":"Reduced von Willebrand factor activity"},{"container-title":"HP:0008331","author":[{"family":"increased creatine kinase after exercise"},{"family":"elevated creatine phosphokinase after exercise"},{"family":"increased phospho-creatine kinase after exercise"},{"family":"elevated phospho-creatine kinase after exercise"},{"family":"increased creatine phosphokinase after exercise"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008331","type":"entry-dictionary","title":"Elevated creatine kinase after exercise"},{"container-title":"HP:0008335","author":[{"family":"An increased concentration of an amino acid in the urine, due to a decreased kidney functionality ."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008335","type":"entry-dictionary","title":"Renal aminoaciduria"},{"container-title":"HP:0008336","author":[{"family":"Complex organic aciduria"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008336","type":"entry-dictionary","title":"Complex organic aciduria"},{"container-title":"HP:0008338","author":[{"family":"partial functional adipsin deficiency"},{"family":"partial functional factor d deficiency"},{"family":"A partial reduction in level of the complement component Factor D in circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008338","type":"entry-dictionary","title":"Partial functional complement factor D deficiency"},{"container-title":"HP:0008339","author":[{"family":"Diaminoaciduria"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008339","type":"entry-dictionary","title":"Diaminoaciduria"},{"container-title":"HP:0008341","author":[{"family":"renal tubular acidosis, type i"},{"family":"A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008341","type":"entry-dictionary","title":"Distal renal tubular acidosis"},{"container-title":"HP:0008344","author":[{"family":"An increased concentration of a branched chain amino acid in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008344","type":"entry-dictionary","title":"Elevated plasma branched chain amino acids"},{"container-title":"HP:0008345","author":[{"family":"underdeveloped pupil dilator muscle"},{"family":"underdeveloped iris dilator muscle"},{"family":"hypoplasia of the pupil dilator muscle"},{"family":"Underdevelopment of the dilatator pupillae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008345","type":"entry-dictionary","title":"Hypoplasia of the iris dilator muscle"},{"container-title":"HP:0008346","author":[{"family":"increased sickling of erythrocytes"},{"family":"increased sickling of red cells"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008346","type":"entry-dictionary","title":"Increased red cell sickling tendency"},{"container-title":"HP:0008347","author":[{"family":"respiratory complex iv deficiency"},{"family":"A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008347","type":"entry-dictionary","title":"Decreased activity of mitochondrial complex IV"},{"container-title":"HP:0008348","author":[{"family":"reduced igg2 levels"},{"family":"A reduction in immunoglobulin levels of the IgG2 subclass."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008348","type":"entry-dictionary","title":"Immunoglobulin IgG2 deficiency"},{"container-title":"HP:0008352","author":[{"family":"impaired thrombocytes adhesion"},{"family":"An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb\/IX\/V. The adherent platelets then release granules that lead to platelet activation and aggregation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008352","type":"entry-dictionary","title":"Impaired platelet adhesion"},{"container-title":"HP:0008353","author":[{"family":"Neutral hyperaminoaciduria"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008353","type":"entry-dictionary","title":"Neutral hyperaminoaciduria"},{"container-title":"HP:0008354","author":[{"family":"Reduced ability to transform factor X into its activated form factor Xa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008354","type":"entry-dictionary","title":"Factor X activation deficiency"},{"container-title":"HP:0008357","author":[{"family":"Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008357","type":"entry-dictionary","title":"Reduced factor XIII activity"},{"container-title":"HP:0008358","author":[{"family":"prolinemia"},{"family":"An increased concentration of proline in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008358","type":"entry-dictionary","title":"Hyperprolinemia"},{"container-title":"HP:0008360","author":[{"family":"A neonatal decreased concentration of proteins in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008360","type":"entry-dictionary","title":"Neonatal hypoproteinemia"},{"container-title":"HP:0008361","author":[{"family":"Corticospinal tract pallor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008361","type":"entry-dictionary","title":"Corticospinal tract pallor"},{"container-title":"HP:0008362","author":[{"family":"aplastic\/hypoplastic halluces"},{"family":"absent\/small big toe"},{"family":"absent\/underdeveloped big toe"},{"family":"Absence or underdevelopment of the big toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008362","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the hallux"},{"container-title":"HP:0008363","author":[{"family":"absent\/small ankle bone"},{"family":"aplastic\/hypoplastic tarsals"},{"family":"absent\/underdeveloped ankle bone"},{"family":"Absence or underdevelopment of the tarsal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008363","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the tarsal bones"},{"container-title":"HP:0008364","author":[{"family":"abnormal heel bone"},{"family":"An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008364","type":"entry-dictionary","title":"Abnormality of the calcaneus"},{"container-title":"HP:0008365","author":[{"family":"abnormal large bone of ankle"},{"family":"An abnormality of the talus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008365","type":"entry-dictionary","title":"Abnormality of the talus"},{"container-title":"HP:0008366","author":[{"family":"contractures of the foot joints"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008366","type":"entry-dictionary","title":"Contractures involving the joints of the feet"},{"container-title":"HP:0008368","author":[{"family":"tarsal fusions"},{"family":"synostosis involving tarsal bones"},{"family":"tarsal bone fusion"},{"family":"synostosis of tarsal bones"},{"family":"tarsal bone synostosis"},{"family":"fused ankle bones"},{"family":"Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008368","type":"entry-dictionary","title":"Tarsal synostosis"},{"container-title":"HP:0008369","author":[{"family":"abnormal ossification of tarsal bones"},{"family":"abnormal maturation of ankle bones"},{"family":"hardening of ankle bones"},{"family":"An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008369","type":"entry-dictionary","title":"Abnormal tarsal ossification"},{"container-title":"HP:0008371","author":[{"family":"abnormal maturation of long bone of foot"},{"family":"abnormal ossification involving metatarsal bones"},{"family":"Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. 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distance between thoracolumbar vertebral pedicles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008484","type":"entry-dictionary","title":"Thoracolumbar interpediculate narrowness"},{"container-title":"HP:0008486","author":[{"family":"decreasing lumbar vertebrae interpediculate distance"},{"family":"Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008486","type":"entry-dictionary","title":"Lumbar interpedicular narrowing"},{"container-title":"HP:0500001","author":[{"family":"body odor"},{"family":"bromhidrosis"},{"family":"bromidrosis"},{"family":"body odour"},{"family":"osmidrosis"},{"family":"A perceived unpleasant smell given off by the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500001","type":"entry-dictionary","title":"Body 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hyperopia"},{"family":"severe long-sightedness"},{"family":"severe farsightedness"},{"family":"high-grade hypermetropia"},{"family":"A severe form of hypermetropia with over +5.00 diopters."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008499","type":"entry-dictionary","title":"High hypermetropia"},{"container-title":"HP:0500020","author":[{"family":"Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and\/or cardiac enzymes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500020","type":"entry-dictionary","title":"Abnormal cardiac biomarker test"},{"container-title":"HP:0500019","author":[{"family":"abnormal metabolic cart test"},{"family":"Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500019","type":"entry-dictionary","title":"Abnormal resting 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cicatricial conjunctivitis"},{"family":"cicatrizating conjunctivitis"},{"family":"An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500039","type":"entry-dictionary","title":"Conjunctival cicatrization"},{"container-title":"HP:0008513","author":[{"family":"bilateral conductive hearing loss"},{"family":"bilateral conductive deafness"},{"family":"A bilateral type of conductive hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008513","type":"entry-dictionary","title":"Bilateral conductive hearing impairment"},{"container-title":"HP:0500037","author":[{"family":"The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500037","type":"entry-dictionary","title":"Nasolacrimal sac epithelial papillary carcinoma"},{"container-title":"HP:0008515","author":[{"family":"absent\/underdeveloped 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granuloma"},{"container-title":"HP:0008517","author":[{"family":"absent\/small sacrum"},{"family":"absent\/underdeveloped sacrum"},{"family":"Aplasia or developmental hypoplasia of the sacral bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008517","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the sacrum"},{"container-title":"HP:0500034","author":[{"family":"Blockage of the nasolacrimal sac."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500034","type":"entry-dictionary","title":"Nasolacrimal sac obstruction"},{"container-title":"HP:0008518","author":[{"family":"absent\/small spine"},{"family":"absent\/underdeveloped spine"},{"family":"absent\/underdeveloped vetebral column"},{"family":"absent\/small backbone"},{"family":"absent\/underdeveloped backbone"},{"family":"absent\/small vertebral column"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008518","type":"entry-dictionary","title":"Aplasia\/Hypoplasia involving the vertebral column"},{"container-title":"HP:0500033","author":[{"family":"Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500033","type":"entry-dictionary","title":"Abnormal natural killer subset distribution"},{"container-title":"HP:0008519","author":[{"family":"abnormal tailbone"},{"family":"An abnormality of the coccyx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008519","type":"entry-dictionary","title":"Abnormality of the coccyx"},{"container-title":"HP:0500032","author":[{"family":"abnormal neuronal branching"},{"family":"aberrant neuronal branching"},{"family":"Abnormality of the structure and branching of the dendrites of a neuron."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500032","type":"entry-dictionary","title":"Abnormal neuron branching"},{"container-title":"HP:0500047","author":[{"family":"A type of lymphoma that involves the nasolacrimal sac."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500047","type":"entry-dictionary","title":"Nasolacrimal sac lymphoma"},{"container-title":"HP:0500046","author":[{"family":"Inflamation of the eyelid due to overactivity of the sebaceous gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500046","type":"entry-dictionary","title":"Seborrhoeic blepharitis"},{"container-title":"HP:0500045","author":[{"family":"A unilateral or bilateral eyelid retraction due to midbrain lesions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500045","type":"entry-dictionary","title":"Collier's sign"},{"container-title":"HP:0008523","author":[{"family":"ear, posterior helical groove"},{"family":"helix, posterior pit"},{"family":"indentation in back of outer ear"},{"family":"ear, posterior helical notch"},{"family":"pits in posterior aspect of ear helices"},{"family":"Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008523","type":"entry-dictionary","title":"Posterior helix pit"},{"container-title":"HP:0500044","author":[{"family":"An elevation of the eyelid above the normal level in the primary position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500044","type":"entry-dictionary","title":"Upper eyelid retraction"},{"container-title":"HP:0500043","author":[{"family":"With the eyes in primary position, the sclera is visible above the superior corneal limbus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500043","type":"entry-dictionary","title":"Eyelid retraction"},{"container-title":"HP:0500042","author":[{"family":"latent hyperopia"},{"family":"A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500042","type":"entry-dictionary","title":"Latent hypermetropia"},{"container-title":"HP:0500041","author":[{"family":"A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500041","type":"entry-dictionary","title":"Myopic astigmatism"},{"container-title":"HP:0008527","author":[{"family":"bilateral congenital sensorineural deafness"},{"family":"congenital neurosensory deafness"},{"family":"hearing loss, congenital sensorineural"},{"family":"congenital perceptive deafness"},{"family":"congenital sensorineural hearing loss"},{"family":"A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008527","type":"entry-dictionary","title":"Congenital sensorineural hearing impairment"},{"container-title":"HP:0500040","author":[{"family":"conjunctival lipodermoid"},{"family":"A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500040","type":"entry-dictionary","title":"Dermolipoma of the conjunctiva"},{"container-title":"HP:0008528","author":[{"family":"long hairs growing from helix of ear"},{"family":"ear hair"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008528","type":"entry-dictionary","title":"Long hairs growing from helix of pinna"},{"container-title":"HP:0500055","author":[{"family":"rop 4b"},{"family":"A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500055","type":"entry-dictionary","title":"Retinopathy of prematurity stage 4b"},{"container-title":"HP:0008529","author":[{"family":"absent middle ear reflexes"},{"family":"absence of acoustic middle ear muscle reflexes"},{"family":"Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008529","type":"entry-dictionary","title":"Absence of acoustic reflex"},{"container-title":"HP:0500054","author":[{"family":"rop stage 4a"},{"family":"A detachment that involves the peripheral retina that does not extend into the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500054","type":"entry-dictionary","title":"Retinopathy of prematurity stage 4a"},{"container-title":"HP:0500053","author":[{"family":"rop stage 4"},{"family":"Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base\/posterior lens capsule resulting in traction, distortion, and even detachment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500053","type":"entry-dictionary","title":"Retinopathy of prematurity stage 4"},{"container-title":"HP:0500052","author":[{"family":"rop stage 3"},{"family":"The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500052","type":"entry-dictionary","title":"Retinopathy of prematurity stage 3"},{"container-title":"HP:0500051","author":[{"family":"rop stage 2"},{"family":"The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500051","type":"entry-dictionary","title":"Retinopathy of prematurity stage 2"},{"container-title":"HP:0500050","author":[{"family":"rop stage 1"},{"family":"The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500050","type":"entry-dictionary","title":"Retinopathy of prematurity stage 1"},{"container-title":"HP:0500049","author":[{"family":"An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500049","type":"entry-dictionary","title":"Retinopathy of prematurity"},{"container-title":"HP:0500048","author":[{"family":"A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500048","type":"entry-dictionary","title":"Delayed canalization of nasolacrimal duct"},{"container-title":"HP:0500063","author":[{"family":"rop pre-plus"},{"family":"As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500063","type":"entry-dictionary","title":"Retinopathy of prematurity pre-plus"},{"container-title":"HP:0008537","author":[{"family":"cleft at the superior portion of the ear"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008537","type":"entry-dictionary","title":"Cleft at the superior portion of the pinna"},{"container-title":"HP:0500062","author":[{"family":"rop plus"},{"family":"Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500062","type":"entry-dictionary","title":"Retinopathy of prematurity plus"},{"container-title":"HP:0500061","author":[{"family":"rop zone iii"},{"family":"Retinopathy which is a residual crescent of retina anterior to zone II."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500061","type":"entry-dictionary","title":"Retinopathy of prematurity zone III"},{"container-title":"HP:0500060","author":[{"family":"rop zone ii"},{"family":"Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500060","type":"entry-dictionary","title":"Retinopathy of prematurity zone II"},{"container-title":"HP:0500059","author":[{"family":"rop zone 1"},{"family":"Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500059","type":"entry-dictionary","title":"Retinopathy of prematurity zone I"},{"container-title":"HP:0008541","author":[{"family":"high set ears"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008541","type":"entry-dictionary","title":"Superiorly displaced ears"},{"container-title":"HP:0500058","author":[{"family":"rop stage 5b"},{"family":"A closed funnel detachment of the retina with generally traction in all four quadrants."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500058","type":"entry-dictionary","title":"Retinopathy of prematurity stage 5b"},{"container-title":"HP:0008542","author":[{"family":"low-frequency hearing loss"},{"family":"A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008542","type":"entry-dictionary","title":"Low-frequency hearing loss"},{"container-title":"HP:0500057","author":[{"family":"rop stage 5a"},{"family":"An open funnel detachment of the retina with generally traction in all four quadrants."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500057","type":"entry-dictionary","title":"Retinopathy of prematurity stage 5a"},{"container-title":"HP:0500056","author":[{"family":"rop stage 5"},{"family":"Funnel detachment from the retina with generally traction in all four quadrants."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500056","type":"entry-dictionary","title":"Retinopathy of prematurity stage 5"},{"container-title":"HP:0008544","author":[{"family":"Abnormally folded helix"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008544","type":"entry-dictionary","title":"Abnormally folded helix"},{"container-title":"HP:0500070","author":[{"family":"A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500070","type":"entry-dictionary","title":"Conjunctival dermolipoma"},{"container-title":"HP:0500069","author":[{"family":"A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500069","type":"entry-dictionary","title":"Paralytic ectropion"},{"container-title":"HP:0500066","author":[{"family":"The difference between total and manifest myopia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500066","type":"entry-dictionary","title":"Latent myopia"},{"container-title":"HP:0500065","author":[{"family":"rop prethreshold"},{"family":"High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500065","type":"entry-dictionary","title":"Retinopathy of prematurity prethreshold"},{"container-title":"HP:0008551","author":[{"family":"bilateral microtia"},{"family":"hypoplastic ears"},{"family":"small pinnae"},{"family":"small ears"},{"family":"hypoplasia of the external ear"},{"family":"underdeveloped ears"},{"family":"hypoplastic pinna"},{"family":"Underdevelopment of the external ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008551","type":"entry-dictionary","title":"Microtia"},{"container-title":"HP:0500064","author":[{"family":"rop threshold"},{"family":"A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500064","type":"entry-dictionary","title":"Retinopathy of prematurity threshold"},{"container-title":"HP:0500079","author":[{"family":"A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500079","type":"entry-dictionary","title":"Alternating hypophoria"},{"container-title":"HP:0500078","author":[{"family":"A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500078","type":"entry-dictionary","title":"Alternating hypotropia"},{"container-title":"HP:0008554","author":[{"family":"The presence of a malformed cochlea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008554","type":"entry-dictionary","title":"Cochlear malformation"},{"container-title":"HP:0500077","author":[{"family":"A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500077","type":"entry-dictionary","title":"Alternating hyperphoria"},{"container-title":"HP:0008555","author":[{"family":"Complete lack of functioning of the vestibular apparatus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008555","type":"entry-dictionary","title":"Absent vestibular function"},{"container-title":"HP:0500076","author":[{"family":"A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500076","type":"entry-dictionary","title":"Alternating hypetropia"},{"container-title":"HP:0500075","author":[{"family":"A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500075","type":"entry-dictionary","title":"Dissociated horizontal deviation"},{"container-title":"HP:0500074","author":[{"family":"An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500074","type":"entry-dictionary","title":"Dissociated vertical deviation"},{"container-title":"HP:0500073","author":[{"family":"Any deviation from the normal ocular alignment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500073","type":"entry-dictionary","title":"Abnormal ocular alignment"},{"container-title":"HP:0008559","author":[{"family":"underdeveloped superior helices"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008559","type":"entry-dictionary","title":"Hypoplastic superior helix"},{"container-title":"HP:0500072","author":[{"family":"Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500072","type":"entry-dictionary","title":"Absolute eccentric fixation"},{"container-title":"HP:0500081","author":[{"family":"The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0500081","type":"entry-dictionary","title":"Pseudophakia"},{"container-title":"HP:0008568","author":[{"family":"vestibular ataxia"},{"family":"Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008568","type":"entry-dictionary","title":"Vestibular areflexia"},{"container-title":"HP:0008569","author":[{"family":"ear, grade ii dysplasia"},{"family":"constricted helix type iv"},{"family":"snail ear"},{"family":"mini ear"},{"family":"cockleshell ear"},{"family":"severe cupped ear, type iii"},{"family":"Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008569","type":"entry-dictionary","title":"Microtia, second degree"},{"container-title":"HP:0008572","author":[{"family":"external ear malformation"},{"family":"A malformation of the auricle of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008572","type":"entry-dictionary","title":"External ear malformation"},{"container-title":"HP:0008573","author":[{"family":"low-frequency sensorineural hearing loss"},{"family":"A form of sensorineural hearing impairment that affects primarily the lower frequencies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008573","type":"entry-dictionary","title":"Low-frequency sensorineural hearing impairment"},{"container-title":"HP:0008577","author":[{"family":"poorly folded helices"},{"family":"Underdevelopment of the helix that either affects the entire helix, or is localized."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008577","type":"entry-dictionary","title":"Underfolded helix"},{"container-title":"HP:0008583","author":[{"family":"A condition in which the superior portion of the helix is folded over to a lesser degree than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008583","type":"entry-dictionary","title":"Underfolded superior helices"},{"container-title":"HP:0008586","author":[{"family":"hypoplastic cochlea"},{"family":"underdeveloped cochlea"},{"family":"Developmental hypoplasia of the cochlea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008586","type":"entry-dictionary","title":"Hypoplasia of the cochlea"},{"container-title":"HP:0008587","author":[{"family":"mild neurosensory hearing loss"},{"family":"The presence of a mild form of sensorineural hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008587","type":"entry-dictionary","title":"Mild neurosensory hearing impairment"},{"container-title":"HP:0008588","author":[{"family":"A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008588","type":"entry-dictionary","title":"Slit-like opening of the exterior auditory meatus"},{"container-title":"HP:0008589","author":[{"family":"underdeveloped helices"},{"family":"Underdevelopment of the helix, i.e., of the outer rim of the pinna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008589","type":"entry-dictionary","title":"Hypoplastic helices"},{"container-title":"HP:0008591","author":[{"family":"congenital conductive deafness"},{"family":"congenital conductive hearing loss"},{"family":"A type of conductive deafness with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008591","type":"entry-dictionary","title":"Congenital conductive hearing impairment"},{"container-title":"HP:0008593","author":[{"family":"hyperplastic antitragus"},{"family":"hypertrophic antitragus"},{"family":"enlarged antitragus"},{"family":"Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008593","type":"entry-dictionary","title":"Prominent antitragus"},{"container-title":"HP:0008596","author":[{"family":"A form of sensorineural hearing impairment with onset after the acquisition of speech."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008596","type":"entry-dictionary","title":"Postlingual sensorineural hearing impairment"},{"container-title":"HP:0008598","author":[{"family":"conductive hearing loss, mild"},{"family":"A mild form of conductive hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008598","type":"entry-dictionary","title":"Mild conductive hearing impairment"},{"container-title":"HP:0008605","author":[{"family":"deformed external ear on one side"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008605","type":"entry-dictionary","title":"Unilateral external ear deformity"},{"container-title":"HP:0008606","author":[{"family":"supraauricular fistula"},{"family":"pit above the ear"},{"family":"supraauricular sinuses"},{"family":"Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008606","type":"entry-dictionary","title":"Supraauricular pit"},{"container-title":"HP:0008607","author":[{"family":"progressive conductive deafness"},{"family":"A progressive type of conductive deafness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008607","type":"entry-dictionary","title":"Progressive conductive hearing impairment"},{"container-title":"HP:0008608","author":[{"family":"Hypertrophic auricular cartilage"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008608","type":"entry-dictionary","title":"Hypertrophic auricular cartilage"},{"container-title":"HP:0008609","author":[{"family":"morphological abnormality of the middle ear"},{"family":"middle ear malformation"},{"family":"An abnormality of the morphology or structure of the middle ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008609","type":"entry-dictionary","title":"Morphological abnormality of the middle ear"},{"container-title":"HP:0008610","author":[{"family":"infantile sensorineural hearing loss"},{"family":"A form of sensorineural hearing impairment with infantile onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008610","type":"entry-dictionary","title":"Infantile sensorineural hearing impairment"},{"container-title":"HP:0008615","author":[{"family":"sensorineural deafness, late-onset"},{"family":"late sensorineural hearing loss"},{"family":"The presence of sensorineural deafness with late onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008615","type":"entry-dictionary","title":"Adult onset sensorineural hearing impairment"},{"container-title":"HP:0008619","author":[{"family":"hearing loss, sensorineural, bilateral"},{"family":"bilateral nerve deafness"},{"family":"bilateral sensorineural deafness"},{"family":"bilateral sensorineural hearing loss"},{"family":"A bilateral form of sensorineural hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008619","type":"entry-dictionary","title":"Bilateral sensorineural hearing impairment"},{"container-title":"HP:0008625","author":[{"family":"severe sensorineural hearing loss"},{"family":"severe sensorineural deafness"},{"family":"A severe form of sensorineural hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008625","type":"entry-dictionary","title":"Severe sensorineural hearing impairment"},{"container-title":"HP:0008628","author":[{"family":"stapedial abnormalities"},{"family":"An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008628","type":"entry-dictionary","title":"Abnormality of the stapes"},{"container-title":"HP:0008629","author":[{"family":"Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and\/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008629","type":"entry-dictionary","title":"Pulsatile tinnitus"},{"container-title":"HP:0008631","author":[{"family":"A developmental anomaly of the ureter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008631","type":"entry-dictionary","title":"Ureteral dysgenesis"},{"container-title":"HP:0008633","author":[{"family":"Absent gonadal tissue"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008633","type":"entry-dictionary","title":"Absent gonadal tissue"},{"container-title":"HP:0008635","author":[{"family":"hypertrophic urinary bladder"},{"family":"Abnormal enlargement of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008635","type":"entry-dictionary","title":"Hypertrophy of the urinary bladder"},{"container-title":"HP:0008636","author":[{"family":"Lobular glomerulopathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008636","type":"entry-dictionary","title":"Lobular glomerulopathy"},{"container-title":"HP:0008639","author":[{"family":"underdeveloped gonad"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008639","type":"entry-dictionary","title":"Gonadal hypoplasia"},{"container-title":"HP:0008640","author":[{"family":"Congenital macroorchidism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008640","type":"entry-dictionary","title":"Congenital macroorchidism"},{"container-title":"HP:0008643","author":[{"family":"Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008643","type":"entry-dictionary","title":"Nephroblastomatosis"},{"container-title":"HP:0008647","author":[{"family":"Pubertal developmental failure in females"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008647","type":"entry-dictionary","title":"Pubertal developmental failure in females"},{"container-title":"HP:0008648","author":[{"family":"Anteriorly displaced urethral meatus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008648","type":"entry-dictionary","title":"Anteriorly displaced urethral meatus"},{"container-title":"HP:0008651","author":[{"family":"Uric acid urolithiasis independent of gout"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008651","type":"entry-dictionary","title":"Uric acid urolithiasis independent of gout"},{"container-title":"HP:0008652","author":[{"family":"impotence due to autonomic dysfunction"},{"family":"Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008652","type":"entry-dictionary","title":"Autonomic erectile dysfunction"},{"container-title":"HP:0008653","author":[{"family":"A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008653","type":"entry-dictionary","title":"Crescentic glomerulonephritis"},{"container-title":"HP:0008655","author":[{"family":"absent or rudimentary fallopian tubes"},{"family":"absent\/small fallopian tube"},{"family":"absent\/underdeveloped fallopian tube"},{"family":"Aplasia or developmental hypoplasia of the fallopian tube."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008655","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the fallopian tube"},{"container-title":"HP:0008656","author":[{"family":"Incomplete male pseudohermaphroditism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008656","type":"entry-dictionary","title":"Incomplete male pseudohermaphroditism"},{"container-title":"HP:0008659","author":[{"family":"medullary cystic disease"},{"family":"medullary sponge kidney disease"},{"family":"The presence of many cysts in the medulla of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008659","type":"entry-dictionary","title":"Multiple small medullary renal cysts"},{"container-title":"HP:0008660","author":[{"family":"renal tubular dysgenesis"},{"family":"A developmental defect characterized by absence or poor development of proximal renal tubules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008660","type":"entry-dictionary","title":"Renotubular dysgenesis"},{"container-title":"HP:0008661","author":[{"family":"narrowing of the urethra"},{"family":"Abnormal narrowing of the urethra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008661","type":"entry-dictionary","title":"Urethral stenosis"},{"container-title":"HP:0008663","author":[{"family":"A sarcoma of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008663","type":"entry-dictionary","title":"Renal sarcoma"},{"container-title":"HP:0008664","author":[{"family":"Urethral sphincter sclerosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008664","type":"entry-dictionary","title":"Urethral sphincter sclerosis"},{"container-title":"HP:0008665","author":[{"family":"clitoromegaly"},{"family":"clitoral enlargement"},{"family":"hypertrophic clitoris"},{"family":"prominent clitoris"},{"family":"enlarged clitoris"},{"family":"Hypertrophy of the clitoris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008665","type":"entry-dictionary","title":"Clitoral hypertrophy"},{"container-title":"HP:0008666","author":[{"family":"Impaired histidine renal tubular absorption"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008666","type":"entry-dictionary","title":"Impaired histidine renal tubular absorption"},{"container-title":"HP:0008668","author":[{"family":"46,xy gonadal dysgenesis"},{"family":"Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008668","type":"entry-dictionary","title":"Gonadal dysgenesis, male"},{"container-title":"HP:0008669","author":[{"family":"impaired spermatogenesis"},{"family":"abnormal sperm development"},{"family":"Incomplete maturation or aberrant formation of the male gametes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008669","type":"entry-dictionary","title":"Abnormal spermatogenesis"},{"container-title":"HP:0008670","author":[{"family":"Partial vaginal septum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008670","type":"entry-dictionary","title":"Partial vaginal septum"},{"container-title":"HP:0008672","author":[{"family":"oxalate nephrolithiasis"},{"family":"calcium oxalate kidney stones"},{"family":"calcium oxalate urolithiasis"},{"family":"The presence of calcium- and oxalate-containing calculi (stones) in the kidneys."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008672","type":"entry-dictionary","title":"Calcium oxalate nephrolithiasis"},{"container-title":"HP:0008675","author":[{"family":"Enlarged polycystic ovaries"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008675","type":"entry-dictionary","title":"Enlarged polycystic ovaries"},{"container-title":"HP:0008676","author":[{"family":"congenital megaloureter"},{"family":"A developmental disturbance with extreme ureteral dilatation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008676","type":"entry-dictionary","title":"Congenital megaureter"},{"container-title":"HP:0008677","author":[{"family":"congenital nephrosis"},{"family":"Nephrotic syndrome with onset within the first three months of life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008677","type":"entry-dictionary","title":"Congenital nephrotic syndrome"},{"container-title":"HP:0008678","author":[{"family":"absent\/small kidney"},{"family":"renal agenesis\/hypoplasia"},{"family":"absent\/underdeveloped kidney"},{"family":"renal aplasia\/hypoplasia"},{"family":"Absence or underdevelopment of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008678","type":"entry-dictionary","title":"Renal hypoplasia\/aplasia"},{"container-title":"HP:0008682","author":[{"family":"renal tubular necrosis"},{"family":"Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008682","type":"entry-dictionary","title":"Acute tubular necrosis"},{"container-title":"HP:0008683","author":[{"family":"labia minora hypertrophy"},{"family":"hypertrophic labia minora"},{"family":"Increase in size of the folds of skin between the outer labia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008683","type":"entry-dictionary","title":"Enlarged labia minora"},{"container-title":"HP:0008684","author":[{"family":"absent\/underdeveloped uterus"},{"family":"absent\/small uterus"},{"family":"Absence or developmental hypoplasia of the uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008684","type":"entry-dictionary","title":"Aplasia\/hypoplasia of the uterus"},{"container-title":"HP:0008687","author":[{"family":"underdeveloped prostate"},{"family":"hypoplastic prostate"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008687","type":"entry-dictionary","title":"Hypoplasia of the prostate"},{"container-title":"HP:0008689","author":[{"family":"cryptorchidism, bilateral"},{"family":"Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008689","type":"entry-dictionary","title":"Bilateral cryptorchidism"},{"container-title":"HP:0008691","author":[{"family":"Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008691","type":"entry-dictionary","title":"Solitary bladder diverticulum"},{"container-title":"HP:0008695","author":[{"family":"transient nephrosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008695","type":"entry-dictionary","title":"Transient nephrotic syndrome"},{"container-title":"HP:0008696","author":[{"family":"A disordered proliferation of mature tissues that are native to the kidneys."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008696","type":"entry-dictionary","title":"Renal hamartoma"},{"container-title":"HP:0008697","author":[{"family":"underdeveloped fallopian tube"},{"family":"rudimentary fallopian tubes"},{"family":"Developmental hypoplasia of the fallopian tube."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008697","type":"entry-dictionary","title":"Hypoplasia of the fallopian tube"},{"container-title":"HP:0008702","author":[{"family":"Absent internal genitalia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008702","type":"entry-dictionary","title":"Absent internal genitalia"},{"container-title":"HP:0008703","author":[{"family":"Deposition of calcium salts in gonadal tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008703","type":"entry-dictionary","title":"Gonadal calcification"},{"container-title":"HP:0008705","author":[{"family":"Ureteral triplication"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008705","type":"entry-dictionary","title":"Ureteral triplication"},{"container-title":"HP:0008706","author":[{"family":"Distal urethral duplication"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008706","type":"entry-dictionary","title":"Distal urethral duplication"},{"container-title":"HP:0008707","author":[{"family":"absent scrotum"},{"family":"Congenital absence of the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008707","type":"entry-dictionary","title":"Absent scrotum"},{"container-title":"HP:0008708","author":[{"family":"Partial development of the penile shaft"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008708","type":"entry-dictionary","title":"Partial development of the penile shaft"},{"container-title":"HP:0008711","author":[{"family":"benign prostatic hypertrophy"},{"family":"The presence of non-malignant hyperplasia of the prostate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008711","type":"entry-dictionary","title":"Benign prostatic hyperplasia"},{"container-title":"HP:0008714","author":[{"family":"Ureterovesical stenosis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008714","type":"entry-dictionary","title":"Ureterovesical stenosis"},{"container-title":"HP:0008715","author":[{"family":"Testicular dysgenesis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008715","type":"entry-dictionary","title":"Testicular dysgenesis"},{"container-title":"HP:0008716","author":[{"family":"urethrovaginal fistulae"},{"family":"The presence of a fistula between the vagina and the urethra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008716","type":"entry-dictionary","title":"Urethrovaginal fistula"},{"container-title":"HP:0008717","author":[{"family":"kidney degeneration on one side"},{"family":"unilateral kidney wasting"},{"family":"A unilateral form of atrophy of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008717","type":"entry-dictionary","title":"Unilateral renal atrophy"},{"container-title":"HP:0008718","author":[{"family":"A unilateral form of developmental dysplasia of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008718","type":"entry-dictionary","title":"Unilateral renal dysplasia"},{"container-title":"HP:0008720","author":[{"family":"Primary testicular failure"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008720","type":"entry-dictionary","title":"Primary testicular failure"},{"container-title":"HP:0008722","author":[{"family":"The presence of a diverticulum (sac or pouch) in the wall of the urethra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0008722","type":"entry-dictionary","title":"Urethral diverticulum"},{"container-title":"HP:0008723","author":[{"family":"xy female gonadal dysgenesis"},{"family":"Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex 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diaphragm"},{"container-title":"HP:0009110","author":[{"family":"eventration of the diaphragm"},{"family":"A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009110","type":"entry-dictionary","title":"Diaphragmatic eventration"},{"container-title":"HP:0009112","author":[{"family":"Congenital absence of the left half of the diaphragm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009112","type":"entry-dictionary","title":"Absent left hemidiaphragm"},{"container-title":"HP:0009113","author":[{"family":"diminished diaphragmatic motion"},{"family":"diaphragmatic paraparesis"},{"family":"weak diaphragm"},{"family":"A decrease in the strength of the diaphragm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009113","type":"entry-dictionary","title":"Diaphragmatic 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underdevelopment of the mandible."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009118","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the mandible"},{"container-title":"HP:0009119","author":[{"family":"abnormally small frontal sinus"},{"family":"Absence or underdevelopment of frontal sinus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009119","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the frontal sinuses"},{"container-title":"HP:0009120","author":[{"family":"Absence or underdevelopment of a cranial sinus or sinuses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009120","type":"entry-dictionary","title":"Aplasia\/Hypoplasia involving the sinuses"},{"container-title":"HP:0009121","author":[{"family":"abnormality of the axial skeleton"},{"family":"An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the 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adipocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009124","type":"entry-dictionary","title":"Abnormal adipose tissue morphology"},{"container-title":"HP:0009125","author":[{"family":"Degenerative changes of the fat tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009125","type":"entry-dictionary","title":"Lipodystrophy"},{"container-title":"HP:0009126","author":[{"family":"increased adipose tissue"},{"family":"increased fat tissue"},{"family":"An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009126","type":"entry-dictionary","title":"Increased adipose tissue"},{"container-title":"HP:0009127","author":[{"family":"muscle issues in the arms and\/or legs"},{"family":"abnormal limb 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feet"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009134","type":"entry-dictionary","title":"Osteolysis involving bones of the feet"},{"container-title":"HP:0009136","author":[{"family":"duplication involving bones of the feet"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009136","type":"entry-dictionary","title":"Duplication involving bones of the feet"},{"container-title":"HP:0009138","author":[{"family":"fusion involving the bones of the lower limbs"},{"family":"An abnormal union between bones or parts of bones lower limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009138","type":"entry-dictionary","title":"Synostosis involving bones of the lower limbs"},{"container-title":"HP:0009139","author":[{"family":"Osteolysis involving bones of the lower limbs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009139","type":"entry-dictionary","title":"Osteolysis involving bones of the lower limbs"},{"container-title":"HP:0009140","author":[{"family":"fusion involving the bones of the feet"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009140","type":"entry-dictionary","title":"Synostosis involving bones of the feet"},{"container-title":"HP:0009141","author":[{"family":"depletion of mitochondrial dna in skeletal muscle tissue"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009141","type":"entry-dictionary","title":"Depletion of mitochondrial DNA in muscle tissue"},{"container-title":"HP:0009142","author":[{"family":"duplication of bones involving the upper extremities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009142","type":"entry-dictionary","title":"Duplication of bones involving the upper extremities"},{"container-title":"HP:0009144","author":[{"family":"Supernumerary bones of the axial skeleton"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009144","type":"entry-dictionary","title":"Supernumerary bones of the axial skeleton"},{"container-title":"HP:0009145","author":[{"family":"abnormality of the cerebral arteries"},{"family":"abnormality of cerebral artery"},{"family":"Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009145","type":"entry-dictionary","title":"Abnormal cerebral artery morphology"},{"container-title":"HP:0009147","author":[{"family":"enlarged end part of the outermost bone of pinky finger"},{"family":"enlarged end part of the outermost bone of little finger"},{"family":"enlarged end part of the outermost bone of pinkie finger"},{"family":"Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009147","type":"entry-dictionary","title":"Enlarged epiphysis of the distal phalanx of the 5th finger"},{"container-title":"HP:0009148","author":[{"family":"small end part of the outermost bone of pinkie finger"},{"family":"small end part of the outermost bone of pinky finger"},{"family":"small end part of the outermost bone of little finger"},{"family":"Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009148","type":"entry-dictionary","title":"Small epiphysis of the distal phalanx of the 5th finger"},{"container-title":"HP:0009149","author":[{"family":"delta-shaped epiphysis of the distal phalanx of the 5th finger"},{"family":"triangular end part of the outermost bone of pinky finger"},{"family":"triangular end part of the outermost bone of pinkie finger"},{"family":"triangular end part of the outermost bone of little finger"},{"family":"A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009149","type":"entry-dictionary","title":"Triangular epiphysis of the distal phalanx of the 5th finger"},{"container-title":"HP:0009150","author":[{"family":"abnormality of the innermost bone pinky finger"},{"family":"abnormality of the innermost bone little finger"},{"family":"abnormality of the innermost bone pinkie finger"},{"family":"Abnormality of the proximal phalanx of the little (5th) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009150","type":"entry-dictionary","title":"Abnormality of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009152","author":[{"family":"abnormality of end part of little finger bone"},{"family":"abnormality of end part of pinky finger bone"},{"family":"abnormality of end part of pinkie finger bone"},{"family":"Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009152","type":"entry-dictionary","title":"Abnormality of the epiphyses of the 5th finger"},{"container-title":"HP:0009153","author":[{"family":"abnormality of end part of the innermost bone of little finger"},{"family":"abnormality of end part of the innermost bone of pinkie finger"},{"family":"abnormality of end part of the innermost bone of pinky finger"},{"family":"Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009153","type":"entry-dictionary","title":"Abnormality of the epiphysis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009154","author":[{"family":"triangular end part of the innermost bone of little finger"},{"family":"delta-shaped epiphysis of the proximal phalanx of the 5th finger"},{"family":"triangular end part of the innermost bone of pinky finger"},{"family":"triangular end part of the innermost bone of pinkie finger"},{"family":"A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009154","type":"entry-dictionary","title":"Triangular epiphysis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009155","author":[{"family":"cone-shaped end part of the innermost bone of pinky finger"},{"family":"cone-shaped end part of the innermost bone of little finger"},{"family":"cone-shaped end part of the innermost bone of pinkie finger"},{"family":"angel-shaped epiphysis of the proximal phalanx of the 5th finger"},{"family":"cone-shaped epiphysis of the proximal phalanx of the little finger"},{"family":"A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009155","type":"entry-dictionary","title":"Cone-shaped epiphysis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009157","author":[{"family":"increased bone density of end part of the innermost bone of little finger"},{"family":"ivory epiphysis of the proximal phalanx of the little finger"},{"family":"increased bone density of end part of the innermost bone of pinkie finger"},{"family":"increased bone density of end part of the innermost bone of pinky finger"},{"family":"Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009157","type":"entry-dictionary","title":"Ivory epiphysis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009158","author":[{"family":"enlarged end part of the innermost bone of little finger"},{"family":"enlarged end part of the innermost bone of pinkie finger"},{"family":"enlarged end part of the innermost bone of pinky finger"},{"family":"Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009158","type":"entry-dictionary","title":"Enlarged epiphysis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009159","author":[{"family":"small end part of the innermost bone of pinkie finger"},{"family":"small end part of the innermost bone of little finger"},{"family":"small end part of the innermost bone of pinky finger"},{"family":"Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009159","type":"entry-dictionary","title":"Small epiphysis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009160","author":[{"family":"absent end part of the innermost bone of pinky finger"},{"family":"absent end part of the innermost bone of pinkie finger"},{"family":"absent end part of the innermost bone of little finger"},{"family":"Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009160","type":"entry-dictionary","title":"Absent epiphysis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009161","author":[{"family":"absent\/underdeveloped middle bone of pinkie finger"},{"family":"absent\/hypoplastic middle phalanx of 5th finger"},{"family":"absent\/small middle bone of pinky finger"},{"family":"absent\/underdeveloped middle bone of little finger"},{"family":"absent\/underdeveloped middle bone of pinky finger"},{"family":"Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009161","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the middle phalanx of the 5th finger"},{"container-title":"HP:0009162","author":[{"family":"aplasia of the middle phalanx of the 5th finger"},{"family":"absent middle bone of little finger"},{"family":"absent middle bone of pinkie finger"},{"family":"absent middle bone of pinky finger"},{"family":"Absence of the middle phalanx of the little (5th) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009162","type":"entry-dictionary","title":"Absent middle phalanx of 5th finger"},{"container-title":"HP:0009164","author":[{"family":"carpal calcifications"},{"family":"abnormal calcification of the wrist bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009164","type":"entry-dictionary","title":"Abnormal calcification of the carpal bones"},{"container-title":"HP:0009165","author":[{"family":"speckled calcifications in end part of the outermost bone of little finger"},{"family":"speckled calcifications in end part of the outermost bone of pinkie finger"},{"family":"speckled calcifications in end part of the outermost bone of pinky finger"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009165","type":"entry-dictionary","title":"Stippling of the epiphysis of the distal phalanx of the 5th finger"},{"container-title":"HP:0009166","author":[{"family":"fragmentation of end part of the outermost bone of little finger"},{"family":"fragmentation of end part of the outermost bone of pinky finger"},{"family":"fragmentation of end part of the outermost bone of pinkie finger"},{"family":"Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009166","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the distal phalanx of the 5th finger"},{"container-title":"HP:0009167","author":[{"family":"irregular end part of the outermost bone of pinkie finger"},{"family":"irregular end part of the outermost bone of pinky finger"},{"family":"irregular end part of the outermost bone of little finger"},{"family":"Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009167","type":"entry-dictionary","title":"Irregular epiphysis of the distal phalanx of the 5th finger"},{"container-title":"HP:0009168","author":[{"family":"bullet-shaped middle little finger bone"},{"family":"bullet-shaped middle pinkie finger bone"},{"family":"bullet-shaped middle pinky finger bone"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009168","type":"entry-dictionary","title":"Bullet-shaped middle phalanx of the 5th finger"},{"container-title":"HP:0009169","author":[{"family":"broad middle bone of pinkie finger"},{"family":"broad middle bone of little finger"},{"family":"broad middle bone of pinky finger"},{"family":"wide middle phalanx of the 5th finger"},{"family":"Increased width of the middle phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009169","type":"entry-dictionary","title":"Broad middle phalanx of the 5th finger"},{"container-title":"HP:0009170","author":[{"family":"Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009170","type":"entry-dictionary","title":"Osteolytic defects of the middle phalanx of the 5th finger"},{"container-title":"HP:0009171","author":[{"family":"triangular end part of the long bone of hand"},{"family":"A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009171","type":"entry-dictionary","title":"Triangular epiphyses of the metacarpals"},{"container-title":"HP:0009172","author":[{"family":"abnormality of the phalanges of the ring finger"},{"family":"abnormal bones of 4th finger"},{"family":"Abnormality of the phalanges of the 4th (ring) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009172","type":"entry-dictionary","title":"Abnormality of the phalanges of the 4th finger"},{"container-title":"HP:0009173","author":[{"family":"curved middle bone of pinky finger"},{"family":"curved middle bone of pinkie finger"},{"family":"curved middle bone of little finger"},{"family":"Curved appearance of the middle phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009173","type":"entry-dictionary","title":"Curved middle phalanx of the 5th finger"},{"container-title":"HP:0009174","author":[{"family":"abnormality of the end part of the ring finger"},{"family":"Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009174","type":"entry-dictionary","title":"Abnormality of the epiphyses of the 4th finger"},{"container-title":"HP:0009175","author":[{"family":"uneven increase in bone density in the middle bone of the pinkie finger"},{"family":"uneven increase in bone density in the middle bone of the pinky finger"},{"family":"uneven increase in bone density in the middle bone of the little finger"},{"family":"Patchy increase in bone density of the middle phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009175","type":"entry-dictionary","title":"Patchy sclerosis of the middle phalanx of the 5th finger"},{"container-title":"HP:0009177","author":[{"family":"proximal 5th finger symphalangism"},{"family":"fused innermost and middle bones of little finger"},{"family":"symphalangism of the proximal and middle phalanges of the 5th finger"},{"family":"fused innermost and middle bones of pinkie finger"},{"family":"fused innermost and middle bones of pinky finger"},{"family":"proximal fifth finger symphalangism"},{"family":"Fusion of the proximal and middle phalanges of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009177","type":"entry-dictionary","title":"Proximal\/middle symphalangism of 5th finger"},{"container-title":"HP:0009178","author":[{"family":"fused middle bones of little finger"},{"family":"fused middle bones of pinky finger"},{"family":"fused middle bones of pinkie finger"},{"family":"Fusion of the middle phalanx of the 5th finger with another bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009178","type":"entry-dictionary","title":"Symphalangism of middle phalanx of 5th finger"},{"container-title":"HP:0009179","author":[{"family":"displaced pinky finger"},{"family":"displaced pinkie finger"},{"family":"laterally displaced fifth finger"},{"family":"displaced little finger"},{"family":"Displacement of the 5th finger from its normal position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009179","type":"entry-dictionary","title":"Deviation of the 5th finger"},{"container-title":"HP:0009180","author":[{"family":"Displacement of the 5th finger towards the ulnar side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009180","type":"entry-dictionary","title":"Ulnar deviation of the 5th finger"},{"container-title":"HP:0009182","author":[{"family":"triangular shaped middle pinky finger bone"},{"family":"triangular shaped middle little finger bone"},{"family":"triangular shaped middle pinkie finger bone"},{"family":"Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009182","type":"entry-dictionary","title":"Triangular shaped middle phalanx of the 5th finger"},{"container-title":"HP:0009183","author":[{"family":"fifth finger camptodactyly"},{"family":"Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and\/or proximal interphalangeal joints are affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009183","type":"entry-dictionary","title":"Joint contracture of the 5th finger"},{"container-title":"HP:0009184","author":[{"family":"Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009184","type":"entry-dictionary","title":"Contracture of the distal interphalangeal joint of the 5th finger"},{"container-title":"HP:0009185","author":[{"family":"5th finger camptodactyly"},{"family":"Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009185","type":"entry-dictionary","title":"Contracture of the proximal interphalangeal joint of the 5th finger"},{"container-title":"HP:0009186","author":[{"family":"Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009186","type":"entry-dictionary","title":"Contracture of the metacarpophalangeal joint of the 5th finger"},{"container-title":"HP:0009187","author":[{"family":"bracket shaped end part of the outermost little finger bone"},{"family":"bracket shaped end part of the outermost pinkie finger bone"},{"family":"bracket shaped end part of the outermost pinky finger bone"},{"family":"The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009187","type":"entry-dictionary","title":"Bracket epiphysis of the distal phalanx of the 5th finger"},{"container-title":"HP:0009188","author":[{"family":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009188","type":"entry-dictionary","title":"Pseudoepiphysis of the distal phalanx of the 5th finger"},{"container-title":"HP:0009189","author":[{"family":"fragmentation of end part of the long bone of hand"},{"family":"Fragmented appearance of the epiphyses of the metacarpals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009189","type":"entry-dictionary","title":"Fragmentation of the metacarpal epiphyses"},{"container-title":"HP:0009190","author":[{"family":"irregular end part of the long bone of hand"},{"family":"Irregular radiographic opacity of the epiphyses of the metacarpals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009190","type":"entry-dictionary","title":"Irregular epiphyses of the metacarpals"},{"container-title":"HP:0009191","author":[{"family":"increased bone density of end part of the long bone of hands"},{"family":"Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009191","type":"entry-dictionary","title":"Ivory epiphyses of the metacarpals"},{"container-title":"HP:0009192","author":[{"family":"absent\/underdeveloped innermost pinky finger bone"},{"family":"absent\/small innermost little finger bone"},{"family":"absent\/small innermost pinkie finger bone"},{"family":"absent\/small innermost pinky finger bone"},{"family":"Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009192","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009193","author":[{"family":"metacarpal pseudoepiphyses"},{"family":"accessory proximal metacarpal ossification centers"},{"family":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009193","type":"entry-dictionary","title":"Pseudoepiphyses of the metacarpals"},{"container-title":"HP:0009194","author":[{"family":"small end part of the long bone of hand"},{"family":"Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009194","type":"entry-dictionary","title":"Small epiphyses of the metacarpals"},{"container-title":"HP:0009195","author":[{"family":"stippling of the epiphyses of the metacarpals"},{"family":"speckled calcifications in end part of the long bone of hand"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009195","type":"entry-dictionary","title":"Epiphyseal stippling of the metacarpals"},{"container-title":"HP:0009196","author":[{"family":"absent end part of the long bone of hand"},{"family":"absent metacarpal ossification center"},{"family":"Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009196","type":"entry-dictionary","title":"Absent metacarpal epiphyses"},{"container-title":"HP:0009197","author":[{"family":"bracket shaped end part of the innermost bone of the pinky finger"},{"family":"bracket shaped end part of the innermost bone of the pinkie finger"},{"family":"bracket shaped end part of the innermost bone of the little finger"},{"family":"The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009197","type":"entry-dictionary","title":"Bracket epiphysis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009198","author":[{"family":"abnormality of the epiphysis of the terminal phalanx of the little finger"},{"family":"abnormality of end part of the innermost bone of the pinkie finger"},{"family":"abnormality of end part of the innermost bone of the little finger"},{"family":"abnormality of end part of the innermost bone of the pinky finger"},{"family":"Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009198","type":"entry-dictionary","title":"Abnormality of the epiphysis of the distal phalanx of the 5th finger"},{"container-title":"HP:0009199","author":[{"family":"irregular end part of the innermost little finger bone"},{"family":"irregular end part of the innermost pinky finger bone"},{"family":"irregular end part of the innermost pinkie finger bone"},{"family":"Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009199","type":"entry-dictionary","title":"Irregular epiphysis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009200","author":[{"family":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009200","type":"entry-dictionary","title":"Pseudoepiphysis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009201","author":[{"family":"speckled calcifications in end part of the innnermost bone of the pinky finger"},{"family":"speckled calcifications in end part of the innnermost bone of the pinkie finger"},{"family":"speckled calcifications in end part of the innnermost bone of the little finger"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009201","type":"entry-dictionary","title":"Stippling of the epiphysis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009202","author":[{"family":"fragmentation of end part of the innermost bone of the little finger"},{"family":"fragmentation of end part of the innermost bone of the pinky finger"},{"family":"fragmentation of end part of the innermost bone of the pinkie finger"},{"family":"Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009202","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009203","author":[{"family":"absent end part of the middle bone of the little finger"},{"family":"absent end part of the middle bone of the pinkie finger"},{"family":"absent end part of the middle bone of the pinky finger"},{"family":"Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009203","type":"entry-dictionary","title":"Absent epiphysis of the middle phalanx of the 5th finger"},{"container-title":"HP:0009204","author":[{"family":"bracket shaped end part of the middle bone of the little finger"},{"family":"bracket shaped end part of the middle bone of the pinkie finger"},{"family":"bracket shaped end part of the middle bone of the pinky finger"},{"family":"The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009204","type":"entry-dictionary","title":"Bracket epiphysis of the middle phalanx of the 5th finger"},{"container-title":"HP:0009205","author":[{"family":"cone-shaped end part of the middle bone of the pinkie finger"},{"family":"cone-shaped end part of the middle bone of the pinky finger"},{"family":"cone-shaped end part of the middle bone of the little finger"},{"family":"A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009205","type":"entry-dictionary","title":"Cone-shaped epiphysis of the middle phalanx of the 5th finger"},{"container-title":"HP:0009206","author":[{"family":"enlarged end part of the middle bone of the pinkie finger"},{"family":"enlarged end part of the middle bone of the little finger"},{"family":"enlarged end part of the middle bone of the pinky finger"},{"family":"Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009206","type":"entry-dictionary","title":"Enlarged epiphysis of the middle phalanx of the 5th finger"},{"container-title":"HP:0009207","author":[{"family":"fragmentation of end part of the middle bone of the little finger"},{"family":"fragmentation of end part of the middle bone of the pinky finger"},{"family":"fragmentation of end part of the middle bone of the pinkie finger"},{"family":"Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009207","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the middle phalanx of the 5th finger"},{"container-title":"HP:0009208","author":[{"family":"irregular end part of the middle bone of the pinky finger"},{"family":"irregular end part of the middle bone of the little finger"},{"family":"irregular end part of the middle bone of the pinkie finger"},{"family":"Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009208","type":"entry-dictionary","title":"Irregular epiphysis of the middle phalanx of the 5th finger"},{"container-title":"HP:0009209","author":[{"family":"increased bone density of end part of the middle bone of pinkie finger"},{"family":"increased bone density of end part of the middle bone of pinky finger"},{"family":"increased bone density of end part of the middle bone of little finger"},{"family":"Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009209","type":"entry-dictionary","title":"Ivory epiphysis of the middle phalanx of the 5th finger"},{"container-title":"HP:0009210","author":[{"family":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009210","type":"entry-dictionary","title":"Pseudoepiphysis of the middle phalanx of the 5th finger"},{"container-title":"HP:0009211","author":[{"family":"small end part of the middle bone of the pinky finger"},{"family":"small end part of the middle bone of the pinkie finger"},{"family":"small end part of the middle bone of the little finger"},{"family":"Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009211","type":"entry-dictionary","title":"Small epiphysis of the middle phalanx of the 5th finger"},{"container-title":"HP:0009212","author":[{"family":"speckled calcifications in end part of the middle bone of the pinkie finger"},{"family":"speckled calcifications in end part of the middle bone of the pinky finger"},{"family":"speckled calcifications in end part of the middle bone of the little finger"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009212","type":"entry-dictionary","title":"Stippling of the epiphysis of the middle phalanx of the 5th finger"},{"container-title":"HP:0009213","author":[{"family":"triangular end part of the middle bone of the little finger"},{"family":"delta-shaped epiphysis of the middle phalanx of the 5th finger"},{"family":"triangular end part of the middle bone of the pinkie finger"},{"family":"triangular end part of the middle bone of the pinky finger"},{"family":"A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009213","type":"entry-dictionary","title":"Triangular epiphysis of the middle phalanx of the 5th finger"},{"container-title":"HP:0009214","author":[{"family":"absent end part of the middle bone of the ring finger"},{"family":"Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009214","type":"entry-dictionary","title":"Absent epiphysis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009215","author":[{"family":"bracket shaped end part of the middle bone of the ring finger"},{"family":"The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009215","type":"entry-dictionary","title":"Bracket epiphysis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009216","author":[{"family":"cone-shaped end part of the middle bone of the ring finger"},{"family":"A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009216","type":"entry-dictionary","title":"Cone-shaped epiphysis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009217","author":[{"family":"enlarged end part of the middle bone of the ring finger"},{"family":"Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009217","type":"entry-dictionary","title":"Enlarged epiphysis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009218","author":[{"family":"fragmentation of end part of the middle bone of the ring finger"},{"family":"Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009218","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009219","author":[{"family":"irregular end part of the middle bone of the ring finger"},{"family":"Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009219","type":"entry-dictionary","title":"Irregular epiphysis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009220","author":[{"family":"increased bone density of end part of the middle ring finger bone"},{"family":"Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009220","type":"entry-dictionary","title":"Ivory epiphysis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009221","author":[{"family":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009221","type":"entry-dictionary","title":"Pseudoepiphysis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009222","author":[{"family":"small end part of the middle bone of the ring finger"},{"family":"Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009222","type":"entry-dictionary","title":"Small epiphysis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009223","author":[{"family":"speckled calcifications in end part of the middle bone of the ring finger"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009223","type":"entry-dictionary","title":"Stippling of the epiphysis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009224","author":[{"family":"triangular end part of the middle bone of the ring finger"},{"family":"delta-shaped epiphysis of the middle phalanx of the 4th finger"},{"family":"A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009224","type":"entry-dictionary","title":"Triangular epiphysis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009225","author":[{"family":"absent innermost bone of pinky finger"},{"family":"absent innermost bone of little finger"},{"family":"absent innermost bone of pinkie finger"},{"family":"Absence of the proximal phalanx of the little (5th) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009225","type":"entry-dictionary","title":"Aplasia of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009226","author":[{"family":"short innermost little finger bone"},{"family":"short innermost pinkie finger bone"},{"family":"hypoplastic\/small proximal phalanx of the 5th finger"},{"family":"short innermost pinky finger bone"},{"family":"short proximal phalanx of the fifth finger"},{"family":"Absence or underdevelopment (hypoplasia) of the proximal phalanx of the fifth finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009226","type":"entry-dictionary","title":"Short proximal phalanx of the 5th finger"},{"container-title":"HP:0009227","author":[{"family":"wide proximal phalanx of the 5th finger"},{"family":"broad innermost little finger bone"},{"family":"broad innermost pinky finger bone"},{"family":"broad innermost pinkie finger bone"},{"family":"Increased width of the proximal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009227","type":"entry-dictionary","title":"Broad proximal phalanx of the 5th finger"},{"container-title":"HP:0009228","author":[{"family":"bullet-shaped innermost pinky finger bone"},{"family":"bullet-shaped innermost little finger bone"},{"family":"bullet-shaped innermost pinkie finger bone"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009228","type":"entry-dictionary","title":"Bullet-shaped proximal phalanx of the 5th finger"},{"container-title":"HP:0009229","author":[{"family":"curved innermost bone of pinkie finger"},{"family":"curved innermost bone of pinky finger"},{"family":"curved innermost bone of little finger"},{"family":"Curved appearance of the proximal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009229","type":"entry-dictionary","title":"Curved proximal phalanx of the 5th finger"},{"container-title":"HP:0009230","author":[{"family":"Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009230","type":"entry-dictionary","title":"Osteolytic defects of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009231","author":[{"family":"uneven increase in bone density in the innermost bone of pinkie finger"},{"family":"uneven increase in bone density in the innermost bone of pinky finger"},{"family":"uneven increase in bone density in the innermost bone of little finger"},{"family":"Patchy increase in bone density of the proximal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009231","type":"entry-dictionary","title":"Patchy sclerosis of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009232","author":[{"family":"fused innermost bone of pinkie finger"},{"family":"fused innermost bone of little finger"},{"family":"fused innermost bone of pinky finger"},{"family":"Fusion of the proximal phalanx of the 5th finger with another bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009232","type":"entry-dictionary","title":"Symphalangism affecting the proximal phalanx of the 5th finger"},{"container-title":"HP:0009233","author":[{"family":"triangular shaped innermost little finger bone"},{"family":"triangular shaped innermost pinky finger bone"},{"family":"triangular shaped innermost pinkie finger bone"},{"family":"Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009233","type":"entry-dictionary","title":"Triangular shaped proximal phalanx of the 5th finger"},{"container-title":"HP:0009234","author":[{"family":"fused innermost bone of pinky finger with 5th long bone of hand"},{"family":"fused innermost bone of little finger with 5th long bone of hand"},{"family":"fused innermost bone of pinkie finger with 5th long bone of hand"},{"family":"Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009234","type":"entry-dictionary","title":"Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal"},{"container-title":"HP:0009236","author":[{"family":"rhomboid or triangular shaped innermost bone of pinkie finger"},{"family":"rhomboid or triangular shaped innermost bone of little finger"},{"family":"rhomboid or triangular shaped innermost bone of pinky finger"},{"family":"Rhomboid or triangular shaped 5th (little) finger proximal phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009236","type":"entry-dictionary","title":"Rhomboid or triangular shaped 5th finger proximal phalanx"},{"container-title":"HP:0009237","author":[{"family":"short 5th finger"},{"family":"short phalanges of the little finger"},{"family":"hypoplastic phalanges of the little finger"},{"family":"hypoplastic\/small 5th finger"},{"family":"short pinky finger"},{"family":"fifth finger brachydactyly"},{"family":"short pinkie finger"},{"family":"short fifth fingers"},{"family":"hypoplastic\/small little finger"},{"family":"short little finger"},{"family":"Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009237","type":"entry-dictionary","title":"Short 5th finger"},{"container-title":"HP:0009238","author":[{"family":"absent little finger"},{"family":"absent pinky finger"},{"family":"absent pinkie finger"},{"family":"Absent 5th (little) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009238","type":"entry-dictionary","title":"Aplasia of the 5th finger"},{"container-title":"HP:0009239","author":[{"family":"absent\/small outermost bone of pinkie finger"},{"family":"absent\/small outermost bone of pinky finger"},{"family":"absent\/small outermost bone of little finger"},{"family":"absent\/underdeveloped outermost bone of pinky finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009239","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the distal phalanx of the 5th finger"},{"container-title":"HP:0009240","author":[{"family":"broad outermost pinky finger bone"},{"family":"broad outermost little finger bone"},{"family":"wide outermost pinky finger bone"},{"family":"broad outermost pinkie finger bone"},{"family":"Increased width of the distal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009240","type":"entry-dictionary","title":"Broad distal phalanx of the 5th finger"},{"container-title":"HP:0009241","author":[{"family":"bullet-shaped outermost pinky finger bone"},{"family":"bullet-shaped outermost little finger bone"},{"family":"bullet-shaped outermost pinkie finger bone"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009241","type":"entry-dictionary","title":"Bullet-shaped distal phalanx of the 5th finger"},{"container-title":"HP:0009242","author":[{"family":"Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009242","type":"entry-dictionary","title":"Osteolytic defects of the distal phalanx of the 5th finger"},{"container-title":"HP:0009243","author":[{"family":"uneven increase in bone density in the outermost bone of little finger"},{"family":"uneven increase in bone density in the outermost bone of pinkie finger"},{"family":"uneven increase in bone density in the outermost bone of pinky finger"},{"family":"Patchy increase in bone density of the distal phalanx of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009243","type":"entry-dictionary","title":"Patchy sclerosis of the distal phalanx of the 5th finger"},{"container-title":"HP:0009244","author":[{"family":"symphalangism of the distal and middle phalanges of the 5th finger"},{"family":"fused end and middle bones of pinkie finger"},{"family":"fused end and middle bones of little finger"},{"family":"fused end and middle bones of pinky finger"},{"family":"symphalangism of the terminal and middle phalanges of the 5th finger"},{"family":"fifth finger distal interphalangeal joint symphalangism"},{"family":"fusion of the terminal and middle phalanges of the 5th finger"},{"family":"Fusion of the terminal\/distal and middle phalanges of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009244","type":"entry-dictionary","title":"Distal\/middle symphalangism of 5th finger"},{"container-title":"HP:0009245","author":[{"family":"triangular shaped outermost pinkie finger bone"},{"family":"triangular shaped outermost little finger bone"},{"family":"triangular shaped outermost pinky finger bone"},{"family":"Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009245","type":"entry-dictionary","title":"Triangular shaped distal phalanx of the 5th finger"},{"container-title":"HP:0009246","author":[{"family":"absent outermost little finger bone"},{"family":"absent outermost pinkie finger bone"},{"family":"absent outermost pinky finger bone"},{"family":"Absence of the distal phalanx of the little (5th) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009246","type":"entry-dictionary","title":"Aplasia of the distal phalanx of the 5th finger"},{"container-title":"HP:0009247","author":[{"family":"abnormality of the end part of the middle bone of the ring finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009247","type":"entry-dictionary","title":"Abnormality of the epiphysis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009248","author":[{"family":"abnormality of the end part of the innermost bone of the ring finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009248","type":"entry-dictionary","title":"Abnormality of the epiphysis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009249","author":[{"family":"abnormality of the end part of the outermost bone of the ring finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009249","type":"entry-dictionary","title":"Abnormality of the epiphysis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009250","author":[{"family":"absent end part of the outermost bone of the ring finger"},{"family":"Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009250","type":"entry-dictionary","title":"Absent epiphysis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009251","author":[{"family":"bracket shaped end part of the outermost bone of the ring finger"},{"family":"The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009251","type":"entry-dictionary","title":"Bracket epiphysis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009252","author":[{"family":"cone-shaped end part of the outermost bone of the ring finger"},{"family":"A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009252","type":"entry-dictionary","title":"Cone-shaped epiphysis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009253","author":[{"family":"enlarged end part of the outermost bone of the ring finger"},{"family":"Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009253","type":"entry-dictionary","title":"Enlarged epiphysis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009254","author":[{"family":"fragmentation of end part of the outermost bone of the ring finger"},{"family":"Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009254","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009255","author":[{"family":"irregular end part of the outermost bone of the ring finger"},{"family":"Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009255","type":"entry-dictionary","title":"Irregular epiphysis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009256","author":[{"family":"increased bone density of end part of the outermost ring finger bone"},{"family":"Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009256","type":"entry-dictionary","title":"Ivory epiphysis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009257","author":[{"family":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009257","type":"entry-dictionary","title":"Pseudoepiphysis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009258","author":[{"family":"small end part of the outermost bone of the ring finger"},{"family":"Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009258","type":"entry-dictionary","title":"Small epiphysis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009259","author":[{"family":"speckled calcifications in the end part of the outermost bone of the ring finger"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009259","type":"entry-dictionary","title":"Stippling of the epiphysis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009260","author":[{"family":"delta-shaped epiphysis of the distal phalanx of the 4th finger"},{"family":"triangular end part of the outermost bone of ring finger"},{"family":"A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009260","type":"entry-dictionary","title":"Triangular epiphysis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009261","author":[{"family":"absent end part of the innermost bone of the ring finger"},{"family":"Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009261","type":"entry-dictionary","title":"Absent epiphysis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009262","author":[{"family":"bracket shaped end part of the innermost bone of the ring finger"},{"family":"bracket proximal epiphysis of the ring finger"},{"family":"The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009262","type":"entry-dictionary","title":"Bracket epiphysis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009263","author":[{"family":"cone-shaped end part of the innermost bone of the ring finger"},{"family":"A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009263","type":"entry-dictionary","title":"Cone-shaped epiphysis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009264","author":[{"family":"enlarged end part of the innermost bone of the ring finger"},{"family":"Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009264","type":"entry-dictionary","title":"Enlarged epiphysis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009265","author":[{"family":"fragmentation of end part of the innermost bone of the ring finger"},{"family":"Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009265","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009266","author":[{"family":"irregular end part of the innermost bone of the ring finger"},{"family":"Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009266","type":"entry-dictionary","title":"Irregular epiphysis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009267","author":[{"family":"increased bone density of end part of the innermost ring finger bone"},{"family":"Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009267","type":"entry-dictionary","title":"Ivory epiphysis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009268","author":[{"family":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009268","type":"entry-dictionary","title":"Pseudoepiphysis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009269","author":[{"family":"small end part of the innermost bone of the ring finger"},{"family":"Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009269","type":"entry-dictionary","title":"Small epiphysis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009270","author":[{"family":"speckled calcifications in end part of the innermost bone of ring finger"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009270","type":"entry-dictionary","title":"Stippling of the epiphysis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009271","author":[{"family":"triangular end part of the innermost bone of ring finger"},{"family":"delta-shaped epiphysis of the proximal phalanx of the 4th finger"},{"family":"A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009271","type":"entry-dictionary","title":"Triangular epiphysis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009272","author":[{"family":"absent\/small ring finger bone"},{"family":"absent\/underdeveloped ring finger bone"},{"family":"A small\/hypoplastic or absent\/aplastic 4th (ring) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009272","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the 4th finger"},{"container-title":"HP:0009273","author":[{"family":"deviation of the ring finger"},{"family":"Displacement of the 4th finger from its normal position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009273","type":"entry-dictionary","title":"Deviation of the 4th finger"},{"container-title":"HP:0009274","author":[{"family":"joint contractures of the fourth finger"},{"family":"Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and\/or proximal interphalangeal joints are affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009274","type":"entry-dictionary","title":"Joint contracture of the 4th finger"},{"container-title":"HP:0009275","author":[{"family":"Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009275","type":"entry-dictionary","title":"Contracture of the distal interphalangeal joint of the 4th finger"},{"container-title":"HP:0009276","author":[{"family":"4th finger camptodactyly"},{"family":"camptodactyly of the 4th finger"},{"family":"camptodactyly of the ring finger"},{"family":"Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009276","type":"entry-dictionary","title":"Contracture of the proximal interphalangeal joint of the 4th finger"},{"container-title":"HP:0009277","author":[{"family":"Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009277","type":"entry-dictionary","title":"Contracture of the metacarpophalangeal joint of the 4th finger"},{"container-title":"HP:0009278","author":[{"family":"ulnar deviation of the ring finger"},{"family":"Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009278","type":"entry-dictionary","title":"Ulnar deviation of the 4th finger"},{"container-title":"HP:0009279","author":[{"family":"radial deviation of the ring finger"},{"family":"Displacement of the 4th finger towards the radial side (i.e., towards the thumb)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009279","type":"entry-dictionary","title":"Radial deviation of the 4th finger"},{"container-title":"HP:0009280","author":[{"family":"short ring finger"},{"family":"hypoplastic\/small 4th finger"},{"family":"Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009280","type":"entry-dictionary","title":"Short 4th finger"},{"container-title":"HP:0009281","author":[{"family":"absent ring finger"},{"family":"Absent 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009281","type":"entry-dictionary","title":"Aplasia of the 4th finger"},{"container-title":"HP:0009282","author":[{"family":"abnormality of the outermost bone of ring finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009282","type":"entry-dictionary","title":"Abnormality of the distal phalanx of the 4th finger"},{"container-title":"HP:0009283","author":[{"family":"abnormal middle bone of ring finger"},{"family":"abnormality of the middle phalanx of the ring finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009283","type":"entry-dictionary","title":"Abnormality of the middle phalanx of the 4th finger"},{"container-title":"HP:0009284","author":[{"family":"abnormality of the proximal phalanx of the ring finger"},{"family":"abnormal innermost bone of ring finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009284","type":"entry-dictionary","title":"Abnormality of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009285","author":[{"family":"curved ring finger bone"},{"family":"Curved appearance of the phalanges of the 4th (ring) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009285","type":"entry-dictionary","title":"Curved phalanges of the 4th finger"},{"container-title":"HP:0009286","author":[{"family":"curved outermost ring finger bone"},{"family":"Curved appearance of the distal phalanx of the 4th (ring) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009286","type":"entry-dictionary","title":"Curved distal phalanx of the 4th finger"},{"container-title":"HP:0009287","author":[{"family":"curved middle ring finger bone"},{"family":"Curved appearance of the middle phalanx of the 4th (ring) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009287","type":"entry-dictionary","title":"Curved middle phalanx of the 4th finger"},{"container-title":"HP:0009288","author":[{"family":"curved innermost ring finger bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009288","type":"entry-dictionary","title":"Curved proximal phalanx of the 4th finger"},{"container-title":"HP:0009289","author":[{"family":"absent\/small outermost ring finger bone"},{"family":"absent\/underdeveloped outermost ring finger bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009289","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the distal phalanx of the 4th finger"},{"container-title":"HP:0009290","author":[{"family":"short distal phalanx of the fourth finger"},{"family":"hypoplastic\/small distal phalanx of the 4th finger"},{"family":"short outermost bone of ring finger"},{"family":"Hypoplastic\/small distal phalanx of the fourth finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009290","type":"entry-dictionary","title":"Short distal phalanx of the 4th finger"},{"container-title":"HP:0009291","author":[{"family":"absent outermost bone of ring finger"},{"family":"Absence of the distal phalanx of the ring (4th) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009291","type":"entry-dictionary","title":"Aplasia of the distal phalanx of the 4th finger"},{"container-title":"HP:0009292","author":[{"family":"wide outermost bone of ring finger"},{"family":"broad outermost bone of ring finger"},{"family":"Increased width of the distal phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009292","type":"entry-dictionary","title":"Broad distal phalanx of the 4th finger"},{"container-title":"HP:0009293","author":[{"family":"broad middle bone of the 4th finger"},{"family":"Increased width of the middle phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009293","type":"entry-dictionary","title":"Broad middle phalanx of the 4th finger"},{"container-title":"HP:0009294","author":[{"family":"aplasia of the middle phalanx of the 4th finger"},{"family":"absent middle bone of 4th finger"},{"family":"Absence of the middle phalanx of the ring (4th) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009294","type":"entry-dictionary","title":"Absent middle phalanx of 4th finger"},{"container-title":"HP:0009295","author":[{"family":"short middle bone of 4th finger"},{"family":"hypoplastic\/small middle phalanx of the 4th finger"},{"family":"hypoplastic\/small middle phalanx of ring finger"},{"family":"short middle phalanx of ring finger"},{"family":"Hypoplastic\/small middle phalanx of the 4th finger, also known as the ring finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009295","type":"entry-dictionary","title":"Short middle phalanx of the 4th finger"},{"container-title":"HP:0009296","author":[{"family":"bullet-shaped middle bone of the 4th finger"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009296","type":"entry-dictionary","title":"Bullet-shaped middle phalanx of the 4th finger"},{"container-title":"HP:0009297","author":[{"family":"Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009297","type":"entry-dictionary","title":"Osteolytic defects of the middle phalanx of the 4th finger"},{"container-title":"HP:0009298","author":[{"family":"absent innermost ring finger bone"},{"family":"Absence of the proximal phalanx of the ring (4th) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009298","type":"entry-dictionary","title":"Aplasia of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009299","author":[{"family":"absent\/underdeveloped middle ring finger bone"},{"family":"absent\/small middle ring finger bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009299","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the middle phalanx of the 4th finger"},{"container-title":"HP:0009300","author":[{"family":"absent\/small innermost ring finger bone"},{"family":"absent\/underdeveloped innermost ring finger bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009300","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009301","author":[{"family":"short proximal phalanx of the fourth finger"},{"family":"hypoplastic\/small proximal phalanx of the 4th finger"},{"family":"short innermost bone of the ring finger"},{"family":"Hypoplastic\/small proximal phalanx of the fourth finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009301","type":"entry-dictionary","title":"Short proximal phalanx of the 4th finger"},{"container-title":"HP:0009302","author":[{"family":"bullet-shaped outermost bone of ring finger"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009302","type":"entry-dictionary","title":"Bullet-shaped distal phalanx of the 4th finger"},{"container-title":"HP:0009303","author":[{"family":"Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009303","type":"entry-dictionary","title":"Osteolytic defects of the distal phalanx of the 4th finger"},{"container-title":"HP:0009304","author":[{"family":"uneven increase in bone density in the outermost bone of the ring finger"},{"family":"Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009304","type":"entry-dictionary","title":"Patchy sclerosis of the distal phalanx of the 4th finger"},{"container-title":"HP:0009305","author":[{"family":"symphalangism of the distal and middle phalanges of the 4th finger"},{"family":"fused outermost and middle bones of ring finger"},{"family":"Fusion of the terminal\/distal and middle phalanges of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009305","type":"entry-dictionary","title":"Distal\/middle symphalangism of 4th finger"},{"container-title":"HP:0009306","author":[{"family":"triangular shaped outermost bone of the ring finger"},{"family":"Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009306","type":"entry-dictionary","title":"Triangular shaped distal phalanx of the 4th finger"},{"container-title":"HP:0009307","author":[{"family":"uneven increase in bone density in the middle bone of the ring finger"},{"family":"Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009307","type":"entry-dictionary","title":"Patchy sclerosis of the middle phalanx of the 4th finger"},{"container-title":"HP:0009308","author":[{"family":"fused middle bone of ring finger"},{"family":"Fusion of the middle phalanx of the 4th finger with another bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009308","type":"entry-dictionary","title":"Symphalangism of middle phalanx of 4th finger"},{"container-title":"HP:0009309","author":[{"family":"triangular shaped middle bone of the ring finger"},{"family":"Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009309","type":"entry-dictionary","title":"Triangular shaped middle phalanx of the 4th finger"},{"container-title":"HP:0009310","author":[{"family":"broad innermost ring finger bone"},{"family":"Increased width of the proximal phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009310","type":"entry-dictionary","title":"Broad proximal phalanx of the 4th finger"},{"container-title":"HP:0009311","author":[{"family":"bullet-shaped innermost ring finger bone"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009311","type":"entry-dictionary","title":"Bullet-shaped proximal phalanx of the 4th finger"},{"container-title":"HP:0009312","author":[{"family":"Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009312","type":"entry-dictionary","title":"Osteolytic defects of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009313","author":[{"family":"uneven increase in bone density in the innermost bone of the ring finger"},{"family":"Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009313","type":"entry-dictionary","title":"Patchy sclerosis of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009314","author":[{"family":"fused innermost bone of ring finger"},{"family":"Fusion of the proximal phalanx of the 4th finger with another bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009314","type":"entry-dictionary","title":"Symphalangism affecting the proximal phalanx of the 4th finger"},{"container-title":"HP:0009315","author":[{"family":"triangular shaped innermost bone of the ring finger"},{"family":"triangular shaped innermost bone of the 4th finger"},{"family":"Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009315","type":"entry-dictionary","title":"Triangular shaped proximal phalanx of the 4th finger"},{"container-title":"HP:0009316","author":[{"family":"abnormality of the middle finger bones"},{"family":"abnormality of middle finger phalanges"},{"family":"abnormality of 3rd finger phalanges"},{"family":"Abnormality of the phalanges of the 3rd (middle) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009316","type":"entry-dictionary","title":"Abnormality of the phalanges of the 3rd finger"},{"container-title":"HP:0009317","author":[{"family":"deviated middle finger"},{"family":"Displacement of the 3rd finger from its normal position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009317","type":"entry-dictionary","title":"Deviation of the 3rd finger"},{"container-title":"HP:0009318","author":[{"family":"absent\/underdeveloped middle finger"},{"family":"absent\/small middle finger"},{"family":"A small\/hypoplastic or absent\/aplastic 3rd (middle) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009318","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the 3rd finger"},{"container-title":"HP:0009319","author":[{"family":"camptodactyly of middle finger"},{"family":"Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and\/or proximal interphalangeal joints are affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009319","type":"entry-dictionary","title":"Joint contracture of the 3rd finger"},{"container-title":"HP:0009320","author":[{"family":"abnormality of end part of the middle bone of the middle finger"},{"family":"Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009320","type":"entry-dictionary","title":"Abnormality of the epiphyses of the 3rd finger"},{"container-title":"HP:0009321","author":[{"family":"absent end part of the middle bone of the middle finger"},{"family":"Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009321","type":"entry-dictionary","title":"Absent epiphysis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009322","author":[{"family":"bracket shaped end part of the middle bone of the middle finger"},{"family":"The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009322","type":"entry-dictionary","title":"Bracket epiphysis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009323","author":[{"family":"cone-shaped end part of the middle bone of the middle finger"},{"family":"A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009323","type":"entry-dictionary","title":"Cone-shaped epiphysis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009324","author":[{"family":"enlarged end part of the middle bone of the middle finger"},{"family":"Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009324","type":"entry-dictionary","title":"Enlarged epiphysis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009325","author":[{"family":"fragmentation of end part of the middle bone of the middle finger"},{"family":"Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009325","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009326","author":[{"family":"irregular end part of the middle bone of the middle finger"},{"family":"Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009326","type":"entry-dictionary","title":"Irregular epiphysis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009327","author":[{"family":"increased bone density of end part of the middle bone of the middle finger"},{"family":"Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009327","type":"entry-dictionary","title":"Ivory epiphysis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009328","author":[{"family":"pseudoepiphyses of middle phalanx of middle-finger"},{"family":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009328","type":"entry-dictionary","title":"Pseudoepiphysis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009329","author":[{"family":"small end part of the middle bone of the middle finger"},{"family":"Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009329","type":"entry-dictionary","title":"Small epiphysis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009330","author":[{"family":"speckled calcifications in end part of the middle bone of the middle finger"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009330","type":"entry-dictionary","title":"Stippling of the epiphysis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009331","author":[{"family":"delta-shaped epiphysis of the middle phalanx of the 3rd finger"},{"family":"triangular end part of the middle bone of the middle finger"},{"family":"A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009331","type":"entry-dictionary","title":"Triangular epiphysis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009332","author":[{"family":"abnormality of the end part of the outermost bone of the middle finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009332","type":"entry-dictionary","title":"Abnormality of the epiphysis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009333","author":[{"family":"abnormality of the end part of the innermost bone of the middle finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009333","type":"entry-dictionary","title":"Abnormality of the epiphysis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009334","author":[{"family":"abnormality of the end part of the middle bone of the middle finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009334","type":"entry-dictionary","title":"Abnormality of the epiphysis of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009335","author":[{"family":"absent end part of the outermost bone of the middle finger"},{"family":"Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009335","type":"entry-dictionary","title":"Absent epiphysis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009336","author":[{"family":"bracket shaped end part of the outermost bone of the middle finger"},{"family":"The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009336","type":"entry-dictionary","title":"Bracket epiphysis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009337","author":[{"family":"cone-shaped end part of the outermost bone of the middle finger"},{"family":"A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009337","type":"entry-dictionary","title":"Cone-shaped epiphysis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009338","author":[{"family":"enlarged end part of the outermost bone of the 3rd finger"},{"family":"Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009338","type":"entry-dictionary","title":"Enlarged epiphysis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009339","author":[{"family":"fragmentation of end part of the outermost bone of the middle finger"},{"family":"Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009339","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009340","author":[{"family":"irregular end part of the outermost long bone of the middle finger"},{"family":"Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009340","type":"entry-dictionary","title":"Irregular epiphysis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009341","author":[{"family":"increased bone density of end part of the outermost middle finger bone"},{"family":"Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009341","type":"entry-dictionary","title":"Ivory epiphysis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009342","author":[{"family":"pseudoepiphysis of the outermost bone of the middle finger"},{"family":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009342","type":"entry-dictionary","title":"Pseudoepiphysis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009343","author":[{"family":"small end part of the outermost long bone of the middle finger"},{"family":"Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009343","type":"entry-dictionary","title":"Small epiphysis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009344","author":[{"family":"speckled calcifications in end part of the outermost long bone of the middle finger"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009344","type":"entry-dictionary","title":"Stippling of the epiphysis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009345","author":[{"family":"delta-shaped epiphysis of the distal phalanx of the 3rd finger"},{"family":"triangular end part of the outermost long bone of the middle finger"},{"family":"A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009345","type":"entry-dictionary","title":"Triangular epiphysis of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009346","author":[{"family":"absent end part of innermost long bone of the middle finger"},{"family":"Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009346","type":"entry-dictionary","title":"Absent epiphysis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009347","author":[{"family":"bracket shaped end part of innermost long bone of the middle finger"},{"family":"The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009347","type":"entry-dictionary","title":"Bracket epiphysis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009348","author":[{"family":"cone-shaped end part of the innermost bone of the middle finger"},{"family":"A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009348","type":"entry-dictionary","title":"Cone-shaped epiphysis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009349","author":[{"family":"large epiphysis of proximal middle-finger phalanx"},{"family":"enlarged end part of innermost long bone of the middle finger"},{"family":"Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009349","type":"entry-dictionary","title":"Enlarged epiphysis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009350","author":[{"family":"fragmentation of end part of innermost long bone of the middle finger"},{"family":"Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009350","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009351","author":[{"family":"irregular end part of innermost long bone of the middle finger"},{"family":"Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009351","type":"entry-dictionary","title":"Irregular epiphysis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009352","author":[{"family":"increased bone density of end part of the innermost middle finger bone"},{"family":"Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009352","type":"entry-dictionary","title":"Ivory epiphysis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009353","author":[{"family":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009353","type":"entry-dictionary","title":"Pseudoepiphysis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009354","author":[{"family":"small end part of innermost long bone of the middle finger"},{"family":"Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009354","type":"entry-dictionary","title":"Small epiphysis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009355","author":[{"family":"speckled calcifications in end part of innermost long bone of the middle finger"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009355","type":"entry-dictionary","title":"Stippling of the epiphysis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009356","author":[{"family":"triangular end part of innermost long bone of the middle finger"},{"family":"delta-shaped epiphysis of the proximal phalanx of the 3rd finger"},{"family":"A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009356","type":"entry-dictionary","title":"Triangular epiphysis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009357","author":[{"family":"abnormality of terminal phalanx of middle-finger"},{"family":"abnormality of the outermost bone of the 3rd finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009357","type":"entry-dictionary","title":"Abnormality of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009358","author":[{"family":"abnormality of proximal middle-finger phalanx"},{"family":"abnormal innermost bone of middle finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009358","type":"entry-dictionary","title":"Abnormality of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009370","author":[{"family":"Type A brachydactyly"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009370","type":"entry-dictionary","title":"Type A brachydactyly"},{"container-title":"HP:0009371","author":[{"family":"Type A1 brachydactyly"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009371","type":"entry-dictionary","title":"Type A1 brachydactyly"},{"container-title":"HP:0009372","author":[{"family":"short index fingers and second toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009372","type":"entry-dictionary","title":"Type A2 brachydactyly"},{"container-title":"HP:0009373","author":[{"family":"Type C brachydactyly"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009373","type":"entry-dictionary","title":"Type C brachydactyly"},{"container-title":"HP:0009374","author":[{"family":"broad pinkie finger bones"},{"family":"broad little finger bones"},{"family":"broad pinky finger bones"},{"family":"Increased width of the phalanges of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009374","type":"entry-dictionary","title":"Broad phalanges of the 5th finger"},{"container-title":"HP:0009375","author":[{"family":"bullet-shaped pinkie finger bones"},{"family":"bullet-shaped pinky finger bones"},{"family":"bullet-shaped little finger bones"},{"family":"Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009375","type":"entry-dictionary","title":"Bullet-shaped phalanges of the 5th finger"},{"container-title":"HP:0009376","author":[{"family":"absent\/small pinkie finger bones"},{"family":"absent\/underdeveloped pinky finger bones"},{"family":"absent\/small pinky finger bones"},{"family":"absent\/small little finger bones"},{"family":"Aplasia\/Hypoplasia of the phalanges of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009376","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the phalanges of the 5th finger"},{"container-title":"HP:0009377","author":[{"family":"uneven increase in bone density in little finger bone"},{"family":"uneven increase in bone density in pinky finger bone"},{"family":"patchy sclerosis of the phalanges of the 5th finger"},{"family":"uneven increase in bone density in pinkie finger bone"},{"family":"Uneven increase in bone density of one or more of the phalanges of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009377","type":"entry-dictionary","title":"Patchy sclerosis of 5th finger phalanx"},{"container-title":"HP:0009378","author":[{"family":"triangular shaped pinkie finger bones"},{"family":"triangular shaped pinky finger bones"},{"family":"triangular shaped little finger bones"},{"family":"Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009378","type":"entry-dictionary","title":"Triangular shaped phalanges of the 5th finger"},{"container-title":"HP:0009379","author":[{"family":"rhomboid or triangular shaped pinkie finger bone"},{"family":"rhomboid or triangular shaped pinky finger bone"},{"family":"rhomboid or triangular shaped little finger bone"},{"family":"Rhomboid or triangular shaped 5th (little) finger distal phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009379","type":"entry-dictionary","title":"Rhomboid or triangular shaped 5th finger distal phalanx"},{"container-title":"HP:0009380","author":[{"family":"absent fingers"},{"family":"Aplasia of one or more fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009380","type":"entry-dictionary","title":"Aplasia of the fingers"},{"container-title":"HP:0009381","author":[{"family":"stubby fingers"},{"family":"hypoplastic\/small fingers"},{"family":"hypoplastic digits"},{"family":"hypoplastic fingers"},{"family":"short finger"},{"family":"Abnormally short finger associated with developmental hypoplasia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009381","type":"entry-dictionary","title":"Short finger"},{"container-title":"HP:0009382","author":[{"family":"absent end part of pinkie finger bone"},{"family":"absent end part of little finger bone"},{"family":"absent end part of pinky finger bone"},{"family":"Absence of one or more epiphyses of the 5th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009382","type":"entry-dictionary","title":"Absent epiphyses of the 5th finger"},{"container-title":"HP:0009383","author":[{"family":"bracket shaped end part of pinkie finger bone"},{"family":"bracket shaped end part of little finger bone"},{"family":"bracket shaped end part of pinky finger bone"},{"family":"Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009383","type":"entry-dictionary","title":"Bracket epiphyses of the 5th finger"},{"container-title":"HP:0009384","author":[{"family":"cone-shaped end part of the pinkie finger bones"},{"family":"cone-shaped end part of the little finger bones"},{"family":"cone-shaped end part of the pinky finger bones"},{"family":"A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. 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A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009446","type":"entry-dictionary","title":"Triangular shaped phalanges of the 3rd finger"},{"container-title":"HP:0009447","author":[{"family":"short middle finger phalanges"},{"family":"small middle finger phalanges"},{"family":"absent\/small middle finger bone"},{"family":"hypoplastic middle finger phalanges"},{"family":"absent\/underdeveloped middle finger bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009447","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the phalanges of the 3rd finger"},{"container-title":"HP:0009450","author":[{"family":"broad innermost bone of middle finger"},{"family":"Increased width of the proximal phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009450","type":"entry-dictionary","title":"Broad proximal phalanx of the 3rd finger"},{"container-title":"HP:0009451","author":[{"family":"bullet-shaped innermost bone of the middle finger"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009451","type":"entry-dictionary","title":"Bullet-shaped proximal phalanx of the 3rd finger"},{"container-title":"HP:0009452","author":[{"family":"curved innermost bone of middle finger"},{"family":"Curved appearance of the proximal phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009452","type":"entry-dictionary","title":"Curved proximal phalanx of the 3rd finger"},{"container-title":"HP:0009453","author":[{"family":"Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009453","type":"entry-dictionary","title":"Osteolytic defects of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009454","author":[{"family":"uneven increase in bone density in the innermost bone of the middle finger"},{"family":"Uneven (irregular) increase in bone density of the proximal phalanx of the third finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009454","type":"entry-dictionary","title":"Patchy sclerosis of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009455","author":[{"family":"fused innermost bone of middle finger"},{"family":"Fusion of the proximal phalanx of the 3rd finger with another bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009455","type":"entry-dictionary","title":"Symphalangism affecting the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009456","author":[{"family":"triangular shaped innermost bone of middle finger"},{"family":"Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009456","type":"entry-dictionary","title":"Triangular shaped proximal phalanx of the 3rd finger"},{"container-title":"HP:0009457","author":[{"family":"absent\/small innermost bone of middle finger"},{"family":"absent\/underdeveloped innermost bone of middle finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009457","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009458","author":[{"family":"absent innermost bone of middle finger"},{"family":"Absence of the proximal phalanx of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009458","type":"entry-dictionary","title":"Aplasia of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009459","author":[{"family":"short innermost bone of middle finger"},{"family":"small proximal middle-finger phalanx"},{"family":"short proximal middle-finger phalanx"},{"family":"hypoplastic\/small proximal phalanx of the 3rd finger"},{"family":"short proximal phalanx of the third finger"},{"family":"Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009459","type":"entry-dictionary","title":"Short proximal phalanx of the 3rd finger"},{"container-title":"HP:0009460","author":[{"family":"absent middle finger"},{"family":"Absent 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009460","type":"entry-dictionary","title":"Aplasia of the 3rd finger"},{"container-title":"HP:0009461","author":[{"family":"hypoplastic\/small 3rd finger"},{"family":"short middle finger"},{"family":"short 3rd finger"},{"family":"Hypoplastic\/small 3rd (middle) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009461","type":"entry-dictionary","title":"Short 3rd finger"},{"container-title":"HP:0009462","author":[{"family":"inward turned middle finger"},{"family":"Displacement of the 3rd finger towards the radial side (i.e., towards the thumb)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009462","type":"entry-dictionary","title":"Radial deviation of the 3rd finger"},{"container-title":"HP:0009463","author":[{"family":"ulnar deviation of middle fingers"},{"family":"Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009463","type":"entry-dictionary","title":"Ulnar deviation of the 3rd finger"},{"container-title":"HP:0009464","author":[{"family":"ulnar angulation of the index finger"},{"family":"medially deviated index finger"},{"family":"ulnar deviation of index fingers"},{"family":"second finger ulnar deviation"},{"family":"Displacement of the 2nd (index) finger towards the ulnar side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009464","type":"entry-dictionary","title":"Ulnar deviation of the 2nd finger"},{"container-title":"HP:0009465","author":[{"family":"medially deviated fingers"},{"family":"Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009465","type":"entry-dictionary","title":"Ulnar deviation of finger"},{"container-title":"HP:0009466","author":[{"family":"radially deviated fingers"},{"family":"radially deviated phalanges"},{"family":"Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009466","type":"entry-dictionary","title":"Radial deviation of finger"},{"container-title":"HP:0009467","author":[{"family":"radially deviated index finger"},{"family":"second finger clinodactyly"},{"family":"Displacement of the 2nd finger towards the radial side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009467","type":"entry-dictionary","title":"Radial deviation of the 2nd finger"},{"container-title":"HP:0009468","author":[{"family":"deviated index finger"},{"family":"displaced index finger"},{"family":"Displacement of the 2nd finger from its normal position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009468","type":"entry-dictionary","title":"Deviation of the 2nd finger"},{"container-title":"HP:0009469","author":[{"family":"contracture of the outermost hinge joint of the 3rd finger"},{"family":"Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009469","type":"entry-dictionary","title":"Contracture of the distal interphalangeal joint of the 3rd finger"},{"container-title":"HP:0009470","author":[{"family":"Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009470","type":"entry-dictionary","title":"Contracture of the metacarpophalangeal joint of the 3rd finger"},{"container-title":"HP:0009471","author":[{"family":"camptodactyly of the 3rd finger"},{"family":"camptodactyly of the third finger"},{"family":"Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009471","type":"entry-dictionary","title":"Contracture of the proximal interphalangeal joint of the 3rd finger"},{"container-title":"HP:0009473","author":[{"family":"contractures involving the hands"},{"family":"contractures of the hands"},{"family":"Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009473","type":"entry-dictionary","title":"Joint contracture of the hand"},{"container-title":"HP:0009477","author":[{"family":"fused innermost and middle bone of index finger"},{"family":"Fusion of the proximal and middle phalanges of the 4th finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009477","type":"entry-dictionary","title":"Proximal\/middle symphalangism of 4th finger"},{"container-title":"HP:0009478","author":[{"family":"fused innermost bone of ring finger with 4th long bone of hand"},{"family":"Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009478","type":"entry-dictionary","title":"Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal"},{"container-title":"HP:0009482","author":[{"family":"fused of innermost and middle bones of middle finger"},{"family":"Fusion of the proximal and middle phalanges of the 3rd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009482","type":"entry-dictionary","title":"Proximal\/middle symphalangism of 3rd finger"},{"container-title":"HP:0009483","author":[{"family":"fused innermost bones of middle finger with middle long bone of hand"},{"family":"Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009483","type":"entry-dictionary","title":"Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal"},{"container-title":"HP:0009484","author":[{"family":"displaced hand or fingers of the hand"},{"family":"Displacement of the hand or of fingers of the hand from their normal position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009484","type":"entry-dictionary","title":"Deviation of the hand or of fingers of the hand"},{"container-title":"HP:0009485","author":[{"family":"Radial deviation of the hand or of fingers of the hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009485","type":"entry-dictionary","title":"Radial deviation of the hand or of fingers of the hand"},{"container-title":"HP:0009486","author":[{"family":"radial deviation of hands"},{"family":"An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009486","type":"entry-dictionary","title":"Radial deviation of the hand"},{"container-title":"HP:0009487","author":[{"family":"ulnar deviation of hands"},{"family":"ulnar deviation of the hands"},{"family":"Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009487","type":"entry-dictionary","title":"Ulnar deviation of the hand"},{"container-title":"HP:0009488","author":[{"family":"absent end part of index finger"},{"family":"Absence of the epiphyses of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009488","type":"entry-dictionary","title":"Absent epiphyses of the 2nd finger"},{"container-title":"HP:0009489","author":[{"family":"bracket shaped end part of index finger"},{"family":"bracket-epiphyses of index finger"},{"family":"Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009489","type":"entry-dictionary","title":"Bracket epiphyses of the 2nd finger"},{"container-title":"HP:0009490","author":[{"family":"cone-shaped end part of the index finger"},{"family":"A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009490","type":"entry-dictionary","title":"Cone-shaped epiphyses of the 2nd finger"},{"container-title":"HP:0009491","author":[{"family":"enlarged end part of the index finger"},{"family":"Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009491","type":"entry-dictionary","title":"Enlarged epiphyses of the 2nd finger"},{"container-title":"HP:0009492","author":[{"family":"fragmentation of end part of the index finger"},{"family":"Fragmented appearance of the epiphyses of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009492","type":"entry-dictionary","title":"Fragmentation of the epiphyses of the 2nd finger"},{"container-title":"HP:0009493","author":[{"family":"irregular end part of the index finger"},{"family":"Irregular radiographic opacity of the epiphyses of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009493","type":"entry-dictionary","title":"Irregular epiphyses of the 2nd finger"},{"container-title":"HP:0009494","author":[{"family":"increased bone density of end part of the index finger bone"},{"family":"Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009494","type":"entry-dictionary","title":"Ivory epiphyses of the 2nd finger"},{"container-title":"HP:0009495","author":[{"family":"accessory index finger phalanges"},{"family":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009495","type":"entry-dictionary","title":"Pseudoepiphyses of the 2nd finger"},{"container-title":"HP:0009496","author":[{"family":"small end part of the index finger"},{"family":"Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009496","type":"entry-dictionary","title":"Small epiphyses of the 2nd finger"},{"container-title":"HP:0009497","author":[{"family":"speckled calcifications in end part of the index finger"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009497","type":"entry-dictionary","title":"Stippling of the epiphyses of the 2nd finger"},{"container-title":"HP:0009498","author":[{"family":"triangular end part of the index finger"},{"family":"A triangular appearance of the epiphyses of the 2nd finger of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009498","type":"entry-dictionary","title":"Triangular epiphyses of the 2nd finger"},{"container-title":"HP:0009499","author":[{"family":"epiphyseal abnormality of terminal index finger phalanx"},{"family":"abnormality of the end part of the outermost bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009499","type":"entry-dictionary","title":"Abnormality of the epiphysis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009500","author":[{"family":"abnormality of end part of the middle bone of the index finger"},{"family":"epiphyseal abnormality of middle phalanx of the 2nd finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009500","type":"entry-dictionary","title":"Abnormality of the epiphysis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009501","author":[{"family":"abnormality of end part of the outermost bone of the index finger"},{"family":"epiphyseal abnormality of the proximal phalanx of the 2nd finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009501","type":"entry-dictionary","title":"Abnormality of the epiphysis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009502","author":[{"family":"absent ossification\/absent epiphysis of terminal index finger phalanx"},{"family":"absent end part of the outermost bone of the index finger"},{"family":"Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009502","type":"entry-dictionary","title":"Absent epiphysis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009503","author":[{"family":"bracket shaped end part of the outermost bone of the index finger"},{"family":"The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009503","type":"entry-dictionary","title":"Bracket epiphysis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009504","author":[{"family":"cone-shaped end part of the outermost bone of the index finger"},{"family":"A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009504","type":"entry-dictionary","title":"Cone-shaped epiphysis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009505","author":[{"family":"enlarged end part of the outermost bone of the index finger"},{"family":"Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009505","type":"entry-dictionary","title":"Enlarged epiphysis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009506","author":[{"family":"fragmentation of end part of the outermost bone of the index finger"},{"family":"Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009506","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009507","author":[{"family":"irregular end part of the outermost bone of the index finger"},{"family":"Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009507","type":"entry-dictionary","title":"Irregular epiphysis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009508","author":[{"family":"increased bone density of end part of the outermost bone of the index finger"},{"family":"ivory epiphysis of terminal index finger phalanx"},{"family":"Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009508","type":"entry-dictionary","title":"Ivory epiphysis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009509","author":[{"family":"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009509","type":"entry-dictionary","title":"Pseudoepiphysis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009510","author":[{"family":"small end part of the outermost bone of the index finger"},{"family":"Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009510","type":"entry-dictionary","title":"Small epiphysis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009511","author":[{"family":"speckled calcifications in end part of the outermost bone of the index finger"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009511","type":"entry-dictionary","title":"Stippling of the epiphysis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009512","author":[{"family":"triangular end part of the outermost bone of the index finger"},{"family":"A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009512","type":"entry-dictionary","title":"Triangular epiphysis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009513","author":[{"family":"absent epiphyses of middle phalanx of index finger"},{"family":"missing end part of the middle long bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009513","type":"entry-dictionary","title":"Absent epiphysis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009514","author":[{"family":"bracket shaped end part of the middle long bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009514","type":"entry-dictionary","title":"Bracket epiphysis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009515","author":[{"family":"cone-shaped epiphyses of middle phalanx of index finger"},{"family":"cone-shaped end part of the middle long bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009515","type":"entry-dictionary","title":"Cone-shaped epiphysis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009516","author":[{"family":"enlarged end part of the middle bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009516","type":"entry-dictionary","title":"Enlarged epiphysis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009517","author":[{"family":"fragmentation of end part of the middle long bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009517","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009518","author":[{"family":"irregular end part of the middle long bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009518","type":"entry-dictionary","title":"Irregular epiphysis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009519","author":[{"family":"increased bone density of end part of the middle bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009519","type":"entry-dictionary","title":"Ivory epiphysis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009520","author":[{"family":"Pseudoepiphysis of the middle phalanx of the 2nd finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009520","type":"entry-dictionary","title":"Pseudoepiphysis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009521","author":[{"family":"small end part of the innermost long bone of index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009521","type":"entry-dictionary","title":"Small epiphysis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009522","author":[{"family":"speckled calcifications in end part of the middle bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009522","type":"entry-dictionary","title":"Stippling of the epiphysis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009523","author":[{"family":"triangular end part of the middle bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009523","type":"entry-dictionary","title":"Triangular epiphysis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009524","author":[{"family":"absent end part of innermost long bone of index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009524","type":"entry-dictionary","title":"Absent epiphysis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009525","author":[{"family":"bracket shaped end part of innermost long bone of index finger"},{"family":"bracket epiphyses of proximal index finger phalanx"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009525","type":"entry-dictionary","title":"Bracket epiphysis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009526","author":[{"family":"cone-shaped epiphysis of proximal index finger phalanx"},{"family":"cone-shaped end part of innermost long bone of index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009526","type":"entry-dictionary","title":"Cone-shaped epiphysis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009527","author":[{"family":"enlarged end part of innermost long bone of index finger"},{"family":"large epiphysis of proximal index finger phalanx"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009527","type":"entry-dictionary","title":"Enlarged epiphysis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009528","author":[{"family":"fragmentation of end part of innermost long bone of index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009528","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009529","author":[{"family":"irregular end part of innermost long bone of index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009529","type":"entry-dictionary","title":"Irregular epiphysis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009530","author":[{"family":"increased bone density of end part of the innermost bone of the index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009530","type":"entry-dictionary","title":"Ivory epiphysis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009531","author":[{"family":"Pseudoepiphysis of the proximal phalanx of the 2nd finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009531","type":"entry-dictionary","title":"Pseudoepiphysis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009532","author":[{"family":"small end part of proximal long bond of index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009532","type":"entry-dictionary","title":"Small epiphysis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009533","author":[{"family":"speckled calcifications in end part of the innermost long bone of index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009533","type":"entry-dictionary","title":"Stippling of the epiphysis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009534","author":[{"family":"triangular epiphysis of proximal index finger phalanx"},{"family":"triangular end part of innermost long bone of index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009534","type":"entry-dictionary","title":"Triangular epiphysis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009535","author":[{"family":"absent index finger phalanges"},{"family":"aplasia of the index finger"},{"family":"Absent 2nd (index) 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An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009553","type":"entry-dictionary","title":"Abnormality of the hairline"},{"container-title":"HP:0009554","author":[{"family":"projection of scalp hair onto lateral cheek"},{"family":"hair growing down to cheek"},{"family":"An tongue-like extension of hair towards the cheeks."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009554","type":"entry-dictionary","title":"Projection of scalp hair onto lateral cheek"},{"container-title":"HP:0009555","author":[{"family":"decreased size of pharynx"},{"family":"decreased volume of pharynx"},{"family":"decreased diameter of pharynx"},{"family":"small pharynx"},{"family":"underdevelopment of pharynx"},{"family":"decreased width of pharynx"},{"family":"hypotrophic pharynx"},{"family":"decreased length of pharynx"},{"family":"Underdevelopment of the pharynx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009555","type":"entry-dictionary","title":"Hypoplasia of the pharynx"},{"container-title":"HP:0009556","author":[{"family":"absent shankbone"},{"family":"absent shinbone"},{"family":"aplasia of the tibia"},{"family":"Absence of the tibia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009556","type":"entry-dictionary","title":"Absent tibia"},{"container-title":"HP:0009557","author":[{"family":"absent\/small outermost index finger bone"},{"family":"absent\/underdeveloped outermost index finger bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009557","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009558","author":[{"family":"wide outermost bone of the index finger"},{"family":"Increased width of the distal phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009558","type":"entry-dictionary","title":"Broad distal phalanx of the 2nd finger"},{"container-title":"HP:0009559","author":[{"family":"bullet-shaped outermost bone of the index finger"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009559","type":"entry-dictionary","title":"Bullet-shaped distal phalanx of the 2nd finger"},{"container-title":"HP:0009560","author":[{"family":"curved outermost bone of the index finger"},{"family":"Curved appearance of the distal phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009560","type":"entry-dictionary","title":"Curved distal phalanx of the 2nd finger"},{"container-title":"HP:0009561","author":[{"family":"osteolytic defects of the outermost bone of the 2nd finger"},{"family":"acro-osteolysis of index finger"},{"family":"acro-osteolysis of terminal index finger phalanx"},{"family":"Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009561","type":"entry-dictionary","title":"Osteolytic defects of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009562","author":[{"family":"uneven increase in bone density in the outermost bone of the 2nd finger"},{"family":"Uneven (irregular) increase in bone density of the distal phalanx of the second finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009562","type":"entry-dictionary","title":"Patchy sclerosis of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009563","author":[{"family":"symphalangism of the distal and middle phalanges of the 2nd finger"},{"family":"fused outermost and middle index finger bones"},{"family":"Fusion of the terminal\/distal and middle phalanges of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009563","type":"entry-dictionary","title":"Distal\/middle symphalangism of 2nd finger"},{"container-title":"HP:0009564","author":[{"family":"triangular shaped outermost bone of the 2nd finger"},{"family":"Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009564","type":"entry-dictionary","title":"Triangular shaped distal phalanx of the 2nd finger"},{"container-title":"HP:0009565","author":[{"family":"absent outermost index finger bone"},{"family":"absent terminal index finger phalanx"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009565","type":"entry-dictionary","title":"Aplasia of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009566","author":[{"family":"short distal phalanx of the second finger"},{"family":"hypoplastic\/small distal phalanx of the 2nd finger"},{"family":"short outermost bone of the index finger"},{"family":"hypoplastic terminal index finger phalanx"},{"family":"short terminal index finger phalanx"},{"family":"Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009566","type":"entry-dictionary","title":"Short distal phalanx of the 2nd finger"},{"container-title":"HP:0009568","author":[{"family":"absent\/underdeveloped middle index finger bone"},{"family":"absent\/small middle index finger bone"},{"family":"hypoplastic\/aplastic middle phalanx of index finger"},{"family":"absent\/hypoplastic middle phalanx of 2nd finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009568","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009569","author":[{"family":"broad middle bone of the index finger"},{"family":"Increased width of the middle phalanx of the second finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009569","type":"entry-dictionary","title":"Broad middle phalanx of the 2nd finger"},{"container-title":"HP:0009570","author":[{"family":"bullet-shaped middle bone of index finger"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009570","type":"entry-dictionary","title":"Bullet-shaped middle phalanx of the 2nd finger"},{"container-title":"HP:0009571","author":[{"family":"curved middle bone of the index finger"},{"family":"Curved appearance of the middle phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009571","type":"entry-dictionary","title":"Curved middle phalanx of the 2nd finger"},{"container-title":"HP:0009572","author":[{"family":"lytic defects of middle index finger phalanx"},{"family":"Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009572","type":"entry-dictionary","title":"Osteolytic defects of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009573","author":[{"family":"uneven increase in bone density in the middle bone of the index finger"},{"family":"Uneven (irregular) increase in bone density of the middle phalanx of the second finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009573","type":"entry-dictionary","title":"Patchy sclerosis of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009574","author":[{"family":"fused middle bone of index finger"},{"family":"Fusion of the middle phalanx of the 2nd finger with another bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009574","type":"entry-dictionary","title":"Symphalangism of middle phalanx of 2nd finger"},{"container-title":"HP:0009575","author":[{"family":"triangular shaped middle bone of index finger"},{"family":"Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009575","type":"entry-dictionary","title":"Triangular shaped middle phalanx of the 2nd finger"},{"container-title":"HP:0009576","author":[{"family":"absent middle bone of index finger"},{"family":"absent middle phalanx of index finger"},{"family":"aplasia of the middle phalanx of the 2nd finger"},{"family":"Absence of the middle phalanx of the index (2nd) finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009576","type":"entry-dictionary","title":"Absent middle phalanx of 2nd finger"},{"container-title":"HP:0009577","author":[{"family":"short middle bone of index finger"},{"family":"hypoplastic middle index finger phalanx"},{"family":"hypoplastic\/small middle phalanx of the 2nd finger"},{"family":"Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009577","type":"entry-dictionary","title":"Short middle phalanx of the 2nd finger"},{"container-title":"HP:0009579","author":[{"family":"fused innermost and middle index finger bones"},{"family":"Fusion of the proximal and middle phalanges of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009579","type":"entry-dictionary","title":"Proximal\/middle symphalangism of the 2nd finger"},{"container-title":"HP:0009580","author":[{"family":"absent\/small innermost index finger bone"},{"family":"absent\/underdeveloped innermost index finger bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009580","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009581","author":[{"family":"wide innermost bone of index finger"},{"family":"wide\/broad proximal index finger phalanx"},{"family":"Increased width of the proximal phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009581","type":"entry-dictionary","title":"Broad proximal phalanx of the 2nd finger"},{"container-title":"HP:0009582","author":[{"family":"bullet-shaped innermost bone of index finger"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009582","type":"entry-dictionary","title":"Bullet-shaped proximal phalanx of the 2nd finger"},{"container-title":"HP:0009583","author":[{"family":"curved innermost bone of index finger"},{"family":"Curved appearance of the proximal phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009583","type":"entry-dictionary","title":"Curved proximal phalanx of the 2nd finger"},{"container-title":"HP:0009584","author":[{"family":"lytic defects of proximal index finger phalanx"},{"family":"Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009584","type":"entry-dictionary","title":"Osteolytic defects of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009585","author":[{"family":"uneven increase in bone density in innermost index finger bone"},{"family":"Uneven (irregular) increase in bone density of the proximal phalanx of the second finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009585","type":"entry-dictionary","title":"Patchy sclerosis of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009586","author":[{"family":"fused innermost bone of index finger"},{"family":"Fusion of the proximal phalanx of the 2nd finger with another bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009586","type":"entry-dictionary","title":"Symphalangism affecting the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009587","author":[{"family":"triangular shaped innermost bone of index finger"},{"family":"triangular proximal index finger phalanx"},{"family":"Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009587","type":"entry-dictionary","title":"Triangular shaped proximal phalanx of the 2nd finger"},{"container-title":"HP:0009588","author":[{"family":"acoustic neuroma"},{"family":"vestibular neurinoma"},{"family":"vestibular neurilemmoma"},{"family":"vestibular schwann cell tumor"},{"family":"vestibular neurolemmoma"},{"family":"A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009588","type":"entry-dictionary","title":"Vestibular Schwannoma"},{"container-title":"HP:0009589","author":[{"family":"bilateral acoustic neuromas"},{"family":"A bilateral vestibular Schwannoma (acoustic neurinoma)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009589","type":"entry-dictionary","title":"Bilateral vestibular Schwannoma"},{"container-title":"HP:0009590","author":[{"family":"A unilateral vestibular Schwannoma (acoustic neurinoma)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009590","type":"entry-dictionary","title":"Unilateral vestibular Schwannoma"},{"container-title":"HP:0009591","author":[{"family":"abnormality of the viiith cranial nerve"},{"family":"abnormality of the eighth cranial nerve"},{"family":"Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009591","type":"entry-dictionary","title":"Abnormality of the vestibulocochlear nerve"},{"container-title":"HP:0009592","author":[{"family":"Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009592","type":"entry-dictionary","title":"Astrocytoma"},{"container-title":"HP:0009593","author":[{"family":"The presence of a peripheral schwannoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009593","type":"entry-dictionary","title":"Peripheral Schwannoma"},{"container-title":"HP:0009594","author":[{"family":"A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009594","type":"entry-dictionary","title":"Retinal hamartoma"},{"container-title":"HP:0009595","author":[{"family":"Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009595","type":"entry-dictionary","title":"Occasional neurofibromas"},{"container-title":"HP:0009596","author":[{"family":"absent innermost bone of index finger"},{"family":"Absence of the proximal phalanx of the 2nd finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009596","type":"entry-dictionary","title":"Aplasia of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009597","author":[{"family":"short proximal index finger phalanx"},{"family":"short proximal phalanx of the second finger"},{"family":"hypoplastic\/small proximal phalanx of the 2nd finger"},{"family":"Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009597","type":"entry-dictionary","title":"Short proximal phalanx of the 2nd finger"},{"container-title":"HP:0009598","author":[{"family":"fused innermost bone of index finger with 2nd long bone of hand"},{"family":"Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009598","type":"entry-dictionary","title":"Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal"},{"container-title":"HP:0009599","author":[{"family":"abnormality of end part of thumb long bone"},{"family":"abnormality of thumb epiphyses"},{"family":"abnormality of the epiphyses of the thumb"},{"family":"Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and\/or the 1st metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009599","type":"entry-dictionary","title":"Abnormality of thumb epiphysis"},{"container-title":"HP:0009600","author":[{"family":"contracture of thumb"},{"family":"flexion deformities of thumbs"},{"family":"joint contractures of the thumb"},{"family":"Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and\/or proximal interphalangeal joints are affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009600","type":"entry-dictionary","title":"Flexion contracture of thumb"},{"container-title":"HP:0009601","author":[{"family":"absent\/underdeveloped thumb"},{"family":"thumb aplasia\/hypoplasia"},{"family":"absent or hypoplastic thumbs"},{"family":"aplasia\/hypoplasia of thumbs"},{"family":"absent\/hypoplastic thumbs"},{"family":"hypoplastic to aplastic thumbs"},{"family":"absent\/small thumb"},{"family":"hypoplastic\/absent thumb"},{"family":"aplastic\/hypoplastic thumbs"},{"family":"Hypoplastic\/small or absent thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009601","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the thumb"},{"container-title":"HP:0009602","author":[{"family":"abnormality of the thumb bones"},{"family":"abnormality of thumb phalanges"},{"family":"A structural anomaly of one or more phalanges of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009602","type":"entry-dictionary","title":"Abnormality of thumb phalanx"},{"container-title":"HP:0009603","author":[{"family":"deviated thumb"},{"family":"displacement of the thumb"},{"family":"abnormal thumb placement"},{"family":"Displacement of the thumb from its normal position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009603","type":"entry-dictionary","title":"Deviation of the thumb"},{"container-title":"HP:0009606","author":[{"family":"double thumb distal phalanges"},{"family":"duplication of distal thumb phalanx"},{"family":"duplication of terminal thumb phalanx"},{"family":"complete duplication of outermost bone of the thumb"},{"family":"duplicated terminal phalanx of thumb"},{"family":"Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009606","type":"entry-dictionary","title":"Complete duplication of distal phalanx of the thumb"},{"container-title":"HP:0009608","author":[{"family":"complete duplication of the innermost bone of the thumb"},{"family":"Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009608","type":"entry-dictionary","title":"Complete duplication of proximal phalanx of the thumb"},{"container-title":"HP:0009609","author":[{"family":"partial\/complete duplication of the 1st metacarpal"},{"family":"partial\/complete duplication of the 1st long bone of hand"},{"family":"Partail or complete duplication of the first metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009609","type":"entry-dictionary","title":"Duplication of the 1st metacarpal"},{"container-title":"HP:0009611","author":[{"family":"bifid distal phalanx of thumb"},{"family":"notched terminal thumb phalanx"},{"family":"incipient distal thumb phalanx duplication"},{"family":"notched outermost bone of the thumb"},{"family":"bifid terminal phalanges of thumbs"},{"family":"Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009611","type":"entry-dictionary","title":"Bifid distal phalanx of the thumb"},{"container-title":"HP:0009612","author":[{"family":"partial\/complete duplication of the distal phalanx of the thumb"},{"family":"duplication of the outermost bone of the thumb"},{"family":"Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009612","type":"entry-dictionary","title":"Duplication of the distal phalanx of the thumb"},{"container-title":"HP:0009613","author":[{"family":"partial\/complete duplication of the proximal phalanx of the thumb"},{"family":"notched innermost bone of thumb"},{"family":"Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009613","type":"entry-dictionary","title":"Duplication of the proximal phalanx of the thumb"},{"container-title":"HP:0009614","author":[{"family":"notched thumb bone"},{"family":"This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009614","type":"entry-dictionary","title":"Bifid proximal phalanx of the thumb"},{"container-title":"HP:0009615","author":[{"family":"complete duplication of the first long bone of hand"},{"family":"Complete duplication of the first metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009615","type":"entry-dictionary","title":"Complete duplication of the first metacarpal"},{"container-title":"HP:0009616","author":[{"family":"partial duplication of the first metacarpal"},{"family":"notched first long bone of hand"},{"family":"Partial duplication of the first metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009616","type":"entry-dictionary","title":"Bifid first metacarpal"},{"container-title":"HP:0009617","author":[{"family":"abnormality of the outermost bone of the thumb"},{"family":"abnormality of terminal thumb phalanx"},{"family":"Any anomaly of the distal phalanx of thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009617","type":"entry-dictionary","title":"Abnormality of the distal phalanx of the thumb"},{"container-title":"HP:0009618","author":[{"family":"abnormality of proximal thumb phalanx"},{"family":"abnormal innermost thumb bone"},{"family":"In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009618","type":"entry-dictionary","title":"Abnormality of the proximal phalanx of the thumb"},{"container-title":"HP:0009622","author":[{"family":"Insertion of thumb at a more distal location than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009622","type":"entry-dictionary","title":"Distally placed thumb"},{"container-title":"HP:0009623","author":[{"family":"proximally placed halluces"},{"family":"low implantation of the thumb"},{"family":"proximally placed thumbs"},{"family":"Proximal mislocalization of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009623","type":"entry-dictionary","title":"Proximal placement of thumb"},{"container-title":"HP:0009624","author":[{"family":"Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009624","type":"entry-dictionary","title":"Contractures of the carpometacarpal joint of the thumb"},{"container-title":"HP:0009625","author":[{"family":"Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009625","type":"entry-dictionary","title":"Contractures of the metacarpophalangeal joint of the thumb"},{"container-title":"HP:0009626","author":[{"family":"interphalangeal extension contractures of thumbs"},{"family":"Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009626","type":"entry-dictionary","title":"Contractures of the interphalangeal joint of the thumb"},{"container-title":"HP:0009629","author":[{"family":"absent\/small innermost thumb bone"},{"family":"absent\/underdeveloped innermost thumb bone"},{"family":"This term applies if the proximal phalanx of the thumb is either small\/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009629","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the proximal phalanx of the thumb"},{"container-title":"HP:0009630","author":[{"family":"broad innermost thumb bone"},{"family":"Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009630","type":"entry-dictionary","title":"Broad proximal phalanx of the thumb"},{"container-title":"HP:0009631","author":[{"family":"bullet-shaped innermost thumb bone"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009631","type":"entry-dictionary","title":"Bullet-shaped proximal phalanx of the thumb"},{"container-title":"HP:0009632","author":[{"family":"curved innermost thumb bone"},{"family":"A deviation from the normal straight shape of the proximal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009632","type":"entry-dictionary","title":"Curved proximal phalanx of the thumb"},{"container-title":"HP:0009633","author":[{"family":"osteolytic defects of the proximal phalanx of the thumb"},{"family":"Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009633","type":"entry-dictionary","title":"Osteolytic defect of the proximal phalanx of the thumb"},{"container-title":"HP:0009634","author":[{"family":"uneven increase in bone density in the innermost thumb bone"},{"family":"An uneven increase in bone density of the proximal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009634","type":"entry-dictionary","title":"Patchy sclerosis of the proximal phalanx of the thumb"},{"container-title":"HP:0009635","author":[{"family":"fusion of thumb bone"},{"family":"Fusion of a phalanx of the thumb with another bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009635","type":"entry-dictionary","title":"Synostosis of thumb phalanx"},{"container-title":"HP:0009636","author":[{"family":"triangular innermost thumb bone"},{"family":"triangular proximal thumb phalanx"},{"family":"Triangular shaped proximal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009636","type":"entry-dictionary","title":"Triangular shaped proximal phalanx of the thumb"},{"container-title":"HP:0009637","author":[{"family":"absent innermost thumb bone"},{"family":"aplasia of the proximal phalanx of the thumb"},{"family":"absent ossification\/absent proximal thumb phalanx"},{"family":"Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009637","type":"entry-dictionary","title":"Absent proximal phalanx of thumb"},{"container-title":"HP:0009638","author":[{"family":"hypoplastic\/small proximal phalanx of the thumb"},{"family":"short proximal thumb bone"},{"family":"short proximal phalanges of thumb"},{"family":"short proximal thumb phalanx"},{"family":"Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009638","type":"entry-dictionary","title":"Short proximal phalanx of thumb"},{"container-title":"HP:0009640","author":[{"family":"fusion of the innermost bone of the thumb with the 1st long bone of hand"},{"family":"Fusion of the proximal phalanx of the thumb with the 1st metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009640","type":"entry-dictionary","title":"Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal"},{"container-title":"HP:0009641","author":[{"family":"absent\/small outermost thumb bone"},{"family":"absent\/underdeveloped outermost thumb bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009641","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the distal phalanx of the thumb"},{"container-title":"HP:0009642","author":[{"family":"broad outermost bone of the thumb"},{"family":"wide outermost bone of thumb"},{"family":"broad terminal thumb phalanx"},{"family":"wide distal phalanx of thumb"},{"family":"Increased width of the distal phalanx of thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009642","type":"entry-dictionary","title":"Broad distal phalanx of the thumb"},{"container-title":"HP:0009643","author":[{"family":"bullet-shaped outermost bone of the thumb"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009643","type":"entry-dictionary","title":"Bullet-shaped distal phalanx of the thumb"},{"container-title":"HP:0009644","author":[{"family":"curved outermost bone of the thumb"},{"family":"A deviation from the normal straight shape of the distal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009644","type":"entry-dictionary","title":"Curved distal phalanx of the thumb"},{"container-title":"HP:0009645","author":[{"family":"osteolytic defects of the distal phalanx of the thumb"},{"family":"osteolytic defects of the outermost bone of the thumb"},{"family":"Dissolution or degeneration of bone tissue of the distal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009645","type":"entry-dictionary","title":"Osteolytic defect of the distal phalanx of the thumb"},{"container-title":"HP:0009646","author":[{"family":"uneven increase in bone density in the outermost bone of the thumb"},{"family":"An uneven increase in bone density of the distal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009646","type":"entry-dictionary","title":"Patchy sclerosis of the distal phalanx of the thumb"},{"container-title":"HP:0009648","author":[{"family":"triangular shaped outermost bone of the thumb"},{"family":"Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009648","type":"entry-dictionary","title":"Triangular shaped distal phalanx of the thumb"},{"container-title":"HP:0009649","author":[{"family":"absence of the outermost bone of the thumb"},{"family":"aplasia of the outermost bone of the thumb"},{"family":"absent ossification\/absent terminal thumb phalanx"},{"family":"Absence of the distal\/terminal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009649","type":"entry-dictionary","title":"Aplasia of the distal phalanx of the thumb"},{"container-title":"HP:0009650","author":[{"family":"hypoplastic\/small distal phalanx of the thumb"},{"family":"short outermost bone of the thumb"},{"family":"hypoplastic terminal thumb phalanx"},{"family":"short thumb terminal phalanx"},{"family":"small terminal thumb phalanx"},{"family":"short terminal thumb phalanx"},{"family":"Hypoplastic (short) distal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009650","type":"entry-dictionary","title":"Short distal phalanx of the thumb"},{"container-title":"HP:0009652","author":[{"family":"bullet-shaped thumb bone"},{"family":"bullet-shaped phalanges of the thumb"},{"family":"An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009652","type":"entry-dictionary","title":"Bullet-shaped thumb phalanx"},{"container-title":"HP:0009653","author":[{"family":"curved thumb bone"},{"family":"curved phalanges of the thumb"},{"family":"A deviation from the normal straight shape of a thumb phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009653","type":"entry-dictionary","title":"Curved thumb phalanx"},{"container-title":"HP:0009654","author":[{"family":"osteolytic defects of the phalanges of the thumb"},{"family":"Dissolution or degeneration of bone tissue of one or more phalanges of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009654","type":"entry-dictionary","title":"Osteolytic defect of thumb phalanx"},{"container-title":"HP:0009655","author":[{"family":"patchy sclerosis of the phalanges of the thumb"},{"family":"uneven increase in bone density in thumb bone"},{"family":"An uneven increase in bone density of one or more of the phalanges of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009655","type":"entry-dictionary","title":"Patchy sclerosis of thumb phalanx"},{"container-title":"HP:0009656","author":[{"family":"fused thumb phalanges"},{"family":"fused thumb bones"},{"family":"symphalangism of the distal and proximal phalanges of the thumb"},{"family":"Congenital fusion (ankylosis) of the interphalangeal joint of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009656","type":"entry-dictionary","title":"Symphalangism of the thumb"},{"container-title":"HP:0009657","author":[{"family":"triangular thumb phalanges"},{"family":"triangular shaped thumb bone"},{"family":"triangular shaped phalanges of the thumb"},{"family":"Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009657","type":"entry-dictionary","title":"Triangular shaped thumb phalanx"},{"container-title":"HP:0009658","author":[{"family":"absent\/small thumb bones"},{"family":"absent\/underdeveloped thumb bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009658","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the phalanges of the thumb"},{"container-title":"HP:0009659","author":[{"family":"partial absence of thumb"},{"family":"aplasia of the phalanges of the thumb"},{"family":"The absence of a phalangeal segment of a thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009659","type":"entry-dictionary","title":"Partial absence of thumb"},{"container-title":"HP:0009660","author":[{"family":"hypoplastic\/small phalanges of the thumb"},{"family":"short thumb bone"},{"family":"short thumb phalanges"},{"family":"hypoplastic thumb phalanges"},{"family":"Hypoplastic (short) thumb phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009660","type":"entry-dictionary","title":"Short phalanx of the thumb"},{"container-title":"HP:0009662","author":[{"family":"abnormality of terminal thumb epiphysis"},{"family":"abnormality of the end part of the outermost bone of the thumb"},{"family":"Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009662","type":"entry-dictionary","title":"Abnormality of the epiphysis of the distal phalanx of the thumb"},{"container-title":"HP:0009663","author":[{"family":"abnormality of end part of thumb innermost long bone"},{"family":"This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009663","type":"entry-dictionary","title":"Abnormality of the epiphysis of the proximal phalanx of the thumb"},{"container-title":"HP:0009664","author":[{"family":"absent end part of thumb innermost long bone"},{"family":"Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009664","type":"entry-dictionary","title":"Absent epiphysis of the proximal phalanx of the thumb"},{"container-title":"HP:0009665","author":[{"family":"bracket shaped end part of thumb innermost long bone"},{"family":"The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009665","type":"entry-dictionary","title":"Bracket epiphysis of the proximal phalanx of the thumb"},{"container-title":"HP:0009666","author":[{"family":"cone-shaped end part of thumb innermost long bone"},{"family":"A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009666","type":"entry-dictionary","title":"Cone-shaped epiphysis of the proximal phalanx of the thumb"},{"container-title":"HP:0009667","author":[{"family":"enlarged end part of thumb innermost long bone"},{"family":"Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009667","type":"entry-dictionary","title":"Enlarged epiphysis of the proximal phalanx of the thumb"},{"container-title":"HP:0009668","author":[{"family":"fragmentation of end part of thumb innermost long bone"},{"family":"Epiphysis of the proximal phalanx of the thumb having multiple bony fragments."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009668","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the proximal phalanx of the thumb"},{"container-title":"HP:0009669","author":[{"family":"irregular end part of thumb innermost long bone"},{"family":"Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009669","type":"entry-dictionary","title":"Irregular epiphysis of the proximal phalanx of the thumb"},{"container-title":"HP:0009670","author":[{"family":"increased bone density of end part of the innermost bone of the thumb"},{"family":"Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009670","type":"entry-dictionary","title":"Ivory epiphysis of the proximal phalanx of the thumb"},{"container-title":"HP:0009671","author":[{"family":"A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009671","type":"entry-dictionary","title":"Pseudoepiphysis of the proximal phalanx of the thumb"},{"container-title":"HP:0009672","author":[{"family":"small end part of thumb innermost long bone"},{"family":"Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009672","type":"entry-dictionary","title":"Small epiphysis of the proximal phalanx of the thumb"},{"container-title":"HP:0009673","author":[{"family":"speckled calcifications in end part of thumb innermost long bone"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009673","type":"entry-dictionary","title":"Stippling of the epiphysis of the proximal phalanx of the thumb"},{"container-title":"HP:0009674","author":[{"family":"triangular end part of thumb innermost long bone"},{"family":"A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009674","type":"entry-dictionary","title":"Triangular epiphysis of the proximal phalanx of the thumb"},{"container-title":"HP:0009675","author":[{"family":"absent end part of thumb outermost long bone"},{"family":"Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009675","type":"entry-dictionary","title":"Absent epiphysis of the distal phalanx of the thumb"},{"container-title":"HP:0009676","author":[{"family":"bracket shaped end part of thumb outermost long bone"},{"family":"The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009676","type":"entry-dictionary","title":"Bracket epiphysis of the distal phalanx of the thumb"},{"container-title":"HP:0009677","author":[{"family":"cone-shaped terminal thumb phalanx epiphysis"},{"family":"cone-shaped end part of thumb outermost long bone"},{"family":"A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009677","type":"entry-dictionary","title":"Cone-shaped epiphysis of the distal phalanx of the thumb"},{"container-title":"HP:0009678","author":[{"family":"large terminal thumb phalanx epiphysis"},{"family":"enlarged end part of thumb outermost long bone"},{"family":"Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009678","type":"entry-dictionary","title":"Enlarged epiphysis of the distal phalanx of the thumb"},{"container-title":"HP:0009679","author":[{"family":"fragmentation of end part thumb outermost long bone"},{"family":"Epiphysis of the distal phalanx of the thumb having multiple bony fragments."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009679","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the distal phalanx of the thumb"},{"container-title":"HP:0009680","author":[{"family":"irregular end part of thumb outermost bone"},{"family":"Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009680","type":"entry-dictionary","title":"Irregular epiphysis of the distal phalanx of the thumb"},{"container-title":"HP:0009681","author":[{"family":"increased bone density of end part of the outermost bone of the thumb"},{"family":"Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009681","type":"entry-dictionary","title":"Ivory epiphysis of the distal phalanx of the thumb"},{"container-title":"HP:0009682","author":[{"family":"pseudoepiphysis of the outermost bone of the thumb"},{"family":"A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009682","type":"entry-dictionary","title":"Pseudoepiphysis of the distal phalanx of the thumb"},{"container-title":"HP:0009683","author":[{"family":"small end part of thumb outermost bone"},{"family":"Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009683","type":"entry-dictionary","title":"Small epiphysis of the distal phalanx of the thumb"},{"container-title":"HP:0009684","author":[{"family":"speckled calcifications in the end part of the outermost thumb bone"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009684","type":"entry-dictionary","title":"Stippling of the epiphysis of the distal phalanx of the thumb"},{"container-title":"HP:0009685","author":[{"family":"triangular epiphysis of the outermost bone of the thumb"},{"family":"triangular end part of thumb outermost bone"},{"family":"A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009685","type":"entry-dictionary","title":"Triangular epiphysis of the distal phalanx of the thumb"},{"container-title":"HP:0009686","author":[{"family":"absent end part of thumb outermost bone"},{"family":"Absence of one or more epiphyses of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009686","type":"entry-dictionary","title":"Absent epiphyses of the thumb"},{"container-title":"HP:0009687","author":[{"family":"bracket shaped end part of the thumb bone"},{"family":"Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009687","type":"entry-dictionary","title":"Bracket epiphyses of the thumb"},{"container-title":"HP:0009688","author":[{"family":"cone-shaped thumb epiphyses"},{"family":"cone-shaped end part of thumb long bone"},{"family":"cone-shaped epiphyses of the thumb"},{"family":"A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009688","type":"entry-dictionary","title":"Cone-shaped epiphysis of the thumb"},{"container-title":"HP:0009689","author":[{"family":"enlarged epiphyses of the thumb"},{"family":"enlarged end part of thumb long bone"},{"family":"Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009689","type":"entry-dictionary","title":"Enlarged thumb epiphysis"},{"container-title":"HP:0009690","author":[{"family":"fragmentation of end part of long bone of thumb"},{"family":"fragmentation of the epiphyses of the thumb"},{"family":"Epiphysis of the thumb having multiple bony fragments."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009690","type":"entry-dictionary","title":"Fragmentation of thumb epiphysis"},{"container-title":"HP:0009691","author":[{"family":"irregular epiphyses of the thumb"},{"family":"irregular end part of thumb long bone"},{"family":"Uneven radiographic opacity of the one or more epiphyses of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009691","type":"entry-dictionary","title":"Irregular thumb epiphysis"},{"container-title":"HP:0009692","author":[{"family":"increased bone density of end part of the thumb"},{"family":"ivory epiphyses of the thumb"},{"family":"Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009692","type":"entry-dictionary","title":"Ivory epiphysis of the thumb"},{"container-title":"HP:0009693","author":[{"family":"pseudoepiphyses of the thumb"},{"family":"A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009693","type":"entry-dictionary","title":"Pseudoepiphysis of the thumb"},{"container-title":"HP:0009694","author":[{"family":"small end part of thumb long bone"},{"family":"small epiphyses of the thumb"},{"family":"Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009694","type":"entry-dictionary","title":"Small thumb epiphysis"},{"container-title":"HP:0009695","author":[{"family":"speckled calcifications in end part of thumb bone"},{"family":"stippling of the epiphyses of the thumb"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009695","type":"entry-dictionary","title":"Stippling of thumb epiphysis"},{"container-title":"HP:0009696","author":[{"family":"triangular end part of the thumb bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009696","type":"entry-dictionary","title":"Triangular epiphyses of the thumb"},{"container-title":"HP:0009697","author":[{"family":"Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009697","type":"entry-dictionary","title":"Contracture of the distal interphalangeal joint of the fingers"},{"container-title":"HP:0009699","author":[{"family":"lytic defects of hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009699","type":"entry-dictionary","title":"Osteolytic defects of the hand bones"},{"container-title":"HP:0009700","author":[{"family":"symphalangism of the hand"},{"family":"synostosis involving bones of the fingers"},{"family":"fused finger bones"},{"family":"An abnormal union between bones or parts of bones of the fingers. The synonymous term \"symphalangism of the hand\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are revered to as \"Symphalangism\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are refered to as \"bony\" Syndactyly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009700","type":"entry-dictionary","title":"Finger symphalangism"},{"container-title":"HP:0009701","author":[{"family":"fused long bones of hand"},{"family":"synostosis involving the metacarpal bones"},{"family":"synostosis involving metacarpal bones"},{"family":"Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009701","type":"entry-dictionary","title":"Metacarpal synostosis"},{"container-title":"HP:0009702","author":[{"family":"carpal fusion"},{"family":"fused wrist bones"},{"family":"synostosis involving the carpal bones"},{"family":"fused carpal bones"},{"family":"carpal bone fusion"},{"family":"Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009702","type":"entry-dictionary","title":"Carpal synostosis"},{"container-title":"HP:0009703","author":[{"family":"fusion involving 1st long bone of hand"},{"family":"first metacarpophalangeal joint synostosis"},{"family":"symphalangism affecting the 1st metacarpal"},{"family":"Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009703","type":"entry-dictionary","title":"Synostosis involving the 1st metacarpal"},{"container-title":"HP:0009704","author":[{"family":"Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009704","type":"entry-dictionary","title":"Chronic CSF lymphocytosis"},{"container-title":"HP:0009705","author":[{"family":"fusion involving the 2nd long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009705","type":"entry-dictionary","title":"Synostosis involving the 2nd metacarpal"},{"container-title":"HP:0009706","author":[{"family":"fusion involving the 3rd long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009706","type":"entry-dictionary","title":"Synostosis involving the 3rd metacarpal"},{"container-title":"HP:0009707","author":[{"family":"fusion involving the 4th long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009707","type":"entry-dictionary","title":"Synostosis involving the 4th metacarpal"},{"container-title":"HP:0009708","author":[{"family":"fusion involving the 5th long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009708","type":"entry-dictionary","title":"Synostosis involving the 5th metacarpal"},{"container-title":"HP:0009709","author":[{"family":"Increased concentration of interferon alpha in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009709","type":"entry-dictionary","title":"Increased CSF interferon alpha"},{"container-title":"HP:0009710","author":[{"family":"Chilblains are acral ulcers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009710","type":"entry-dictionary","title":"Chilblain lesions"},{"container-title":"HP:0009711","author":[{"family":"retinal hemangioblastoma"},{"family":"A benign vascular tumor of the retina without any neoplastic characteristics."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009711","type":"entry-dictionary","title":"Retinal capillary hemangioma"},{"container-title":"HP:0009713","author":[{"family":"A 'hemangioblastoma of the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009713","type":"entry-dictionary","title":"Spinal hemangioblastoma"},{"container-title":"HP:0009714","author":[{"family":"An abnormality of the epididymis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009714","type":"entry-dictionary","title":"Abnormality of the epididymis"},{"container-title":"HP:0009715","author":[{"family":"A cystadenoma, an epithelial tumor, that originates within the head of the epididymis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009715","type":"entry-dictionary","title":"Papillary cystadenoma of the epididymis"},{"container-title":"HP:0009716","author":[{"family":"Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009716","type":"entry-dictionary","title":"Subependymal nodules"},{"container-title":"HP:0009717","author":[{"family":"Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009717","type":"entry-dictionary","title":"Cortical tubers"},{"container-title":"HP:0009718","author":[{"family":"A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009718","type":"entry-dictionary","title":"Subependymal giant-cell astrocytoma"},{"container-title":"HP:0009719","author":[{"family":"hypomelanotic macules"},{"family":"Hypomelanotic macules (\"ash leaf spots\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009719","type":"entry-dictionary","title":"Hypomelanotic macule"},{"container-title":"HP:0009720","author":[{"family":"sebaceous adenomas"},{"family":"facial angiofibromas"},{"family":"The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009720","type":"entry-dictionary","title":"Adenoma sebaceum"},{"container-title":"HP:0009721","author":[{"family":"A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009721","type":"entry-dictionary","title":"Shagreen patch"},{"container-title":"HP:0009722","author":[{"family":"dental enamel pits"},{"family":"pitting of tooth enamel"},{"family":"dental enamel pitting"},{"family":"tooth enamel pits"},{"family":"The presence of small depressions in the dental enamel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009722","type":"entry-dictionary","title":"Dental enamel pits"},{"container-title":"HP:0009723","author":[{"family":"A lesion located beneath a fingernail or toenail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009723","type":"entry-dictionary","title":"Abnormality of the subungual region"},{"container-title":"HP:0009724","author":[{"family":"subungual fibroma"},{"family":"The presence of fibromata beneath finger or toenails."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009724","type":"entry-dictionary","title":"Subungual fibromas"},{"container-title":"HP:0009725","author":[{"family":"bladder cancer"},{"family":"bladder tumor"},{"family":"The presence of a neoplasm of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009725","type":"entry-dictionary","title":"Bladder neoplasm"},{"container-title":"HP:0009726","author":[{"family":"kidney cancer"},{"family":"renal tumors"},{"family":"renal neoplasia"},{"family":"neoplasia of the kidneys"},{"family":"The presence of a neoplasm of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009726","type":"entry-dictionary","title":"Renal neoplasm"},{"container-title":"HP:0009727","author":[{"family":"punched out areas of chorioretinal hypopigmentation"},{"family":"Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009727","type":"entry-dictionary","title":"Achromatic retinal patches"},{"container-title":"HP:0009728","author":[{"family":"tumors of striated muscle"},{"family":"A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009728","type":"entry-dictionary","title":"Neoplasm of striated muscle"},{"container-title":"HP:0009729","author":[{"family":"A benign tumor of cardiac striated muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009729","type":"entry-dictionary","title":"Cardiac rhabdomyoma"},{"container-title":"HP:0009730","author":[{"family":"A benign tumor of striated muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009730","type":"entry-dictionary","title":"Rhabdomyoma"},{"container-title":"HP:0009731","author":[{"family":"The presence of a hamartoma of the cerebrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009731","type":"entry-dictionary","title":"Cerebral hamartomata"},{"container-title":"HP:0009732","author":[{"family":"A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009732","type":"entry-dictionary","title":"Plexiform neurofibroma"},{"container-title":"HP:0009733","author":[{"family":"The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009733","type":"entry-dictionary","title":"Glioma"},{"container-title":"HP:0009734","author":[{"family":"optic glioma"},{"family":"A glioma originating in the optic nerve or optic chiasm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009734","type":"entry-dictionary","title":"Optic nerve glioma"},{"container-title":"HP:0009735","author":[{"family":"Neurofibromas originating in the spine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009735","type":"entry-dictionary","title":"Spinal neurofibromas"},{"container-title":"HP:0009736","author":[{"family":"Pseudarthrosis, or \"false joint\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009736","type":"entry-dictionary","title":"Tibial pseudoarthrosis"},{"container-title":"HP:0009737","author":[{"family":"iris hamartomas"},{"family":"The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009737","type":"entry-dictionary","title":"Lisch nodules"},{"container-title":"HP:0009738","author":[{"family":"abnormal antehelix"},{"family":"abnormal anthelix"},{"family":"abnormal antihelix"},{"family":"An abnormality of the antihelix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009738","type":"entry-dictionary","title":"Abnormality of the antihelix"},{"container-title":"HP:0009739","author":[{"family":"hypoplastic antihelix"},{"family":"Developmental hypoplasia of the antihelix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009739","type":"entry-dictionary","title":"Hypoplasia of the antihelix"},{"container-title":"HP:0009740","author":[{"family":"absence of the parotid gland"},{"family":"underdevelopment of parotid gland"},{"family":"abnormally small parotid gland"},{"family":"hypoplasia of parotid gland"},{"family":"Absence of the parotid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009740","type":"entry-dictionary","title":"Aplasia of the parotid gland"},{"container-title":"HP:0009741","author":[{"family":"scarring of kidney arteries"},{"family":"thickening of kidney artiries"},{"family":"Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009741","type":"entry-dictionary","title":"Nephrosclerosis"},{"container-title":"HP:0009742","author":[{"family":"stiff shoulders"},{"family":"Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009742","type":"entry-dictionary","title":"Stiff shoulders"},{"container-title":"HP:0009743","author":[{"family":"distichiasis of eyelid eyelashes"},{"family":"Double rows of eyelashes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009743","type":"entry-dictionary","title":"Distichiasis"},{"container-title":"HP:0009744","author":[{"family":"An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009744","type":"entry-dictionary","title":"Abnormality of the spinal dura mater"},{"container-title":"HP:0009745","author":[{"family":"epidural arachnoid cysts of the spinal canal"},{"family":"Presence of arachnoid cysts of the spinal canal extradurally in the epidural space."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009745","type":"entry-dictionary","title":"Spinalarachnoid cyst"},{"container-title":"HP:0009746","author":[{"family":"broad septum of nose"},{"family":"wide nasal septum"},{"family":"broad nasal septum"},{"family":"thick nasal septum"},{"family":"thick septum of nose"},{"family":"wide septum of nose"},{"family":"Abnormally increased thickness of the nasal septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009746","type":"entry-dictionary","title":"Thick nasal septum"},{"container-title":"HP:0009747","author":[{"family":"Abnormally increased hair growth in the lumbosacral region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009747","type":"entry-dictionary","title":"Lumbosacral hirsutism"},{"container-title":"HP:0009748","author":[{"family":"large earlobe"},{"family":"prominent ear lobes"},{"family":"fleshy earlobes"},{"family":"prominent ear lobules"},{"family":"Increased volume of the earlobe, that is, abnormally prominent ear lobules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009748","type":"entry-dictionary","title":"Large earlobe"},{"container-title":"HP:0009751","author":[{"family":"absent pectoralis major muscle"},{"family":"Absence of the pectoralis major muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009751","type":"entry-dictionary","title":"Aplasia of the pectoralis major muscle"},{"container-title":"HP:0009752","author":[{"family":"cleft in skull base"},{"family":"cleft in cranial base"},{"family":"A bony defect in the skull base."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009752","type":"entry-dictionary","title":"Cleft in skull base"},{"container-title":"HP:0009754","author":[{"family":"alveolar synechiae"},{"family":"fusion of the alveolar ridges"},{"family":"Complete or nearly complete soft tissue fusion of the alveolar ridges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009754","type":"entry-dictionary","title":"Fibrous syngnathia"},{"container-title":"HP:0009755","author":[{"family":"eyelid synechiae"},{"family":"eyelids stuck together"},{"family":"ankyloblepharon filiforme adnatum"},{"family":"adhesion of eyelids"},{"family":"Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009755","type":"entry-dictionary","title":"Ankyloblepharon"},{"container-title":"HP:0009756","author":[{"family":"A pterygium (or pterygia) occuring in the popliteal region (the back of the knee)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009756","type":"entry-dictionary","title":"Popliteal pterygium"},{"container-title":"HP:0009757","author":[{"family":"A pterygium (or pterygia) in the intercrural (groin) region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009757","type":"entry-dictionary","title":"Intercrural pterygium"},{"container-title":"HP:0009758","author":[{"family":"Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009758","type":"entry-dictionary","title":"Pyramidal skinfold extending from the base to the top of the nails"},{"container-title":"HP:0009759","author":[{"family":"neck pterygium"},{"family":"Pterygia affecting the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009759","type":"entry-dictionary","title":"Neck pterygia"},{"container-title":"HP:0009760","author":[{"family":"webbed elbow"},{"family":"pterygium cubitale"},{"family":"Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009760","type":"entry-dictionary","title":"Antecubital pterygium"},{"container-title":"HP:0009761","author":[{"family":"Anterior schisis (cleft or cleavage) of vertebral bodies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009761","type":"entry-dictionary","title":"Anterior clefting of vertebral bodies"},{"container-title":"HP:0009762","author":[{"family":"facial wrinkling"},{"family":"Excessive wrinkling of the skin of the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009762","type":"entry-dictionary","title":"Facial wrinkling"},{"container-title":"HP:0009763","author":[{"family":"pain in extremities"},{"family":"limb pain"},{"family":"Chronic pain in the limbs with no clear focal etiology."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009763","type":"entry-dictionary","title":"Limb pain"},{"container-title":"HP:0009765","author":[{"family":"extension of the columella below the ala nasi"},{"family":"rounded columella"},{"family":"columella extends below the ala nasi"},{"family":"low-hanging columella"},{"family":"prominent columella"},{"family":"columella, low hanging"},{"family":"Columella extending inferior to the level of the nasal base, when viewed from the side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009765","type":"entry-dictionary","title":"Low hanging columella"},{"container-title":"HP:0009767","author":[{"family":"aplastic\/hypoplastic phalanges of the hand"},{"family":"hypoplastic\/absent phalanges"},{"family":"Small or missing phalangeal bones of the fingers of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009767","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the phalanges of the hand"},{"container-title":"HP:0009768","author":[{"family":"wide hand bones"},{"family":"widening of phalanges of the hand"},{"family":"Increased width of the phalanges of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009768","type":"entry-dictionary","title":"Broad phalanges of the hand"},{"container-title":"HP:0009769","author":[{"family":"bullet-shaped phalanges of the hands"},{"family":"bullet-shaped hand bones"},{"family":"conical bullet-shaped distal ends of phalanges"},{"family":"The presence of short and wide phalanges which taper distally (\"bullet shaped\")."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009769","type":"entry-dictionary","title":"Bullet-shaped phalanges of the hand"},{"container-title":"HP:0009770","author":[{"family":"curved hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009770","type":"entry-dictionary","title":"Curved phalanges of the hand"},{"container-title":"HP:0009771","author":[{"family":"acro-osteolysis"},{"family":"acroosteolysis"},{"family":"Dissolution or degeneration of bone tissue of the phalanges of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009771","type":"entry-dictionary","title":"Osteolytic defects of the phalanges of the hand"},{"container-title":"HP:0009772","author":[{"family":"phalangeal sclerosis"},{"family":"uneven increase in bone density in finger bone"},{"family":"patchy sclerosis of the phalanges of the hand"},{"family":"Uneven (irregular) increase in bone density of one or more of the phalanges of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009772","type":"entry-dictionary","title":"Patchy sclerosis of finger phalanx"},{"container-title":"HP:0009773","author":[{"family":"synostosis involving phalanges of the hand"},{"family":"fused finger bones of the hand"},{"family":"Fusion of two or more phalangeal bones of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009773","type":"entry-dictionary","title":"Symphalangism affecting the phalanges of the hand"},{"container-title":"HP:0009774","author":[{"family":"triangular shaped hand bones"},{"family":"delta phalanx\/delta-like phalanx"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009774","type":"entry-dictionary","title":"Triangular shaped phalanges of the hand"},{"container-title":"HP:0009775","author":[{"family":"amniotic bands"},{"family":"amniotic constriction band"},{"family":"pseudoainhum"},{"family":"Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009775","type":"entry-dictionary","title":"Amniotic constriction ring"},{"container-title":"HP:0009776","author":[{"family":"absent fingers or toes"},{"family":"aphalangy"},{"family":"The absence of all phalanges of all the digits of a limb and the associated soft tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009776","type":"entry-dictionary","title":"Adactyly"},{"container-title":"HP:0009777","author":[{"family":"absent thumbs"},{"family":"thumb aplasia"},{"family":"aplasia of the thumb"},{"family":"Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009777","type":"entry-dictionary","title":"Absent thumb"},{"container-title":"HP:0009778","author":[{"family":"thumb brachydactyly"},{"family":"short thumbs"},{"family":"hypoplastic\/small thumb"},{"family":"hypoplastic thumbs"},{"family":"small thumbs"},{"family":"thumb hypoplasia"},{"family":"Hypoplasia (congenital reduction in size) of the thumb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009778","type":"entry-dictionary","title":"Short thumb"},{"container-title":"HP:0009779","author":[{"family":"syndactyly of 3rd - 4th toes"},{"family":"webbed 3rd-4th toes"},{"family":"Syndactyly with fusion of toes three and four."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009779","type":"entry-dictionary","title":"3-4 toe syndactyly"},{"container-title":"HP:0009780","author":[{"family":"Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009780","type":"entry-dictionary","title":"Iliac horns"},{"container-title":"HP:0009781","author":[{"family":"A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009781","type":"entry-dictionary","title":"Lester's sign"},{"container-title":"HP:0009782","author":[{"family":"absent\/underdeveloped biceps"},{"family":"absent\/small biceps"},{"family":"Absence or underdevelopment of the biceps muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009782","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the biceps"},{"container-title":"HP:0009783","author":[{"family":"absent biceps"},{"family":"Absence of the biceps muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009783","type":"entry-dictionary","title":"Biceps aplasia"},{"container-title":"HP:0009784","author":[{"family":"absent\/small triceps"},{"family":"absent\/underdeveloped triceps"},{"family":"Absence or underdevelopment of the triceps muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009784","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the triceps"},{"container-title":"HP:0009785","author":[{"family":"absent triceps"},{"family":"Absence of the triceps muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009785","type":"entry-dictionary","title":"Triceps aplasia"},{"container-title":"HP:0009786","author":[{"family":"absent\/underdeveloped thigh muscles"},{"family":"absent\/small thigh muscles"},{"family":"Absence or underdevelopment involving the musculature of the thigh."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009786","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the musculature of the thigh"},{"container-title":"HP:0009787","author":[{"family":"absent\/small quadriceps"},{"family":"absent\/underdeveloped quadriceps"},{"family":"Absence or underdevelopment of the quadriceps muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009787","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the quadriceps"},{"container-title":"HP:0009788","author":[{"family":"absent quads"},{"family":"Absence of the quadriceps muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009788","type":"entry-dictionary","title":"Quadriceps aplasia"},{"container-title":"HP:0009789","author":[{"family":"The presence of an abscess located around the anus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009789","type":"entry-dictionary","title":"Perianal abscess"},{"container-title":"HP:0009790","author":[{"family":"A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009790","type":"entry-dictionary","title":"Hemisacrum"},{"container-title":"HP:0009791","author":[{"family":"Presence of a bifid sacral bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009791","type":"entry-dictionary","title":"Bifid sacrum"},{"container-title":"HP:0009792","author":[{"family":"The presence of a teratoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009792","type":"entry-dictionary","title":"Teratoma"},{"container-title":"HP:0009793","author":[{"family":"altman type iv sacrococcygeal teratoma"},{"family":"retrorectal teratoma"},{"family":"A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009793","type":"entry-dictionary","title":"Presacral teratoma"},{"container-title":"HP:0009794","author":[{"family":"abnormality of branchial arch"},{"family":"branchial anomalies"},{"family":"abnormality of branchial apparatus"},{"family":"branchial abnormality"},{"family":"Congenital developmental defect arising from the primitive branchial apparatus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009794","type":"entry-dictionary","title":"Branchial anomaly"},{"container-title":"HP:0009795","author":[{"family":"branchial cleft fistula"},{"family":"A congenital fistula in the neck resulting from incomplete closure of a branchial cleft."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009795","type":"entry-dictionary","title":"Branchial fistula"},{"container-title":"HP:0009796","author":[{"family":"branchial cysts"},{"family":"branchial cleft cyst"},{"family":"A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009796","type":"entry-dictionary","title":"Branchial cyst"},{"container-title":"HP:0009797","author":[{"family":"Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and\/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009797","type":"entry-dictionary","title":"Cholesteatoma"},{"container-title":"HP:0009798","author":[{"family":"A goiter that is not associated with functional thyroid abnormalities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009798","type":"entry-dictionary","title":"Euthyroid goiter"},{"container-title":"HP:0009799","author":[{"family":"extra spleen"},{"family":"The presence of two or more accessory spleens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009799","type":"entry-dictionary","title":"Supernumerary spleens"},{"container-title":"HP:0009800","author":[{"family":"maternal diabetes"},{"family":"gestational diabetes"},{"family":"maternal hyperglycemia"},{"family":"Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009800","type":"entry-dictionary","title":"Maternal diabetes"},{"container-title":"HP:0009802","author":[{"family":"absent finger bone of the hand"},{"family":"Absence of one or more of the phalanges of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009802","type":"entry-dictionary","title":"Aplasia of the phalanges of the hand"},{"container-title":"HP:0009803","author":[{"family":"short finger bones"},{"family":"rudimentary phalanges"},{"family":"short phalanges"},{"family":"shortened phalanges"},{"family":"phalangeal hypoplasia"},{"family":"hypoplastic phalanges of hands"},{"family":"hypoplastic\/small phalanges of the hand"},{"family":"Short (hypoplastic) phalanx of finger, affecting one or more phalanges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009803","type":"entry-dictionary","title":"Short phalanx of finger"},{"container-title":"HP:0009804","author":[{"family":"failure of development of some teeth"},{"family":"decreased number of teeth"},{"family":"reduced number of teeth"},{"family":"decreased tooth count"},{"family":"missing some teeth"},{"family":"tooth agenesis"},{"family":"fewer teeth than normal"},{"family":"The presence of a reduced number of teeth as in Hypodontia or as in Anodontia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009804","type":"entry-dictionary","title":"Reduced number of teeth"},{"container-title":"HP:0009805","author":[{"family":"A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009805","type":"entry-dictionary","title":"Low-output congestive heart failure"},{"container-title":"HP:0009806","author":[{"family":"A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009806","type":"entry-dictionary","title":"Nephrogenic diabetes insipidus"},{"container-title":"HP:0009808","author":[{"family":"abnormality involving the diaphyses of the upper limbs"},{"family":"diaphyseal abnormality of the upper limbs"},{"family":"abnormality of shaft of long bone of the upper limbs"},{"family":"A structural abnormality of a diaphysis of the arm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009808","type":"entry-dictionary","title":"Anomaly of the upper limb diaphyses"},{"container-title":"HP:0009809","author":[{"family":"abnormality of the wide portion of upper limb bone"},{"family":"metaphyseal abnormality of the upper limbs"},{"family":"An anomaly of one or more metaphyses of the arms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009809","type":"entry-dictionary","title":"Abnormality of upper limb metaphysis"},{"container-title":"HP:0009810","author":[{"family":"abnormality of upper limb joint"},{"family":"abnormality of the joints of the upper limbs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009810","type":"entry-dictionary","title":"Abnormality of upper limb joint"},{"container-title":"HP:0009811","author":[{"family":"abnormality of the elbows"},{"family":"An anomaly of the joint that connects the upper and the lower arm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009811","type":"entry-dictionary","title":"Abnormality of the elbow"},{"container-title":"HP:0009812","author":[{"family":"Amelia of one or both upper limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009812","type":"entry-dictionary","title":"Amelia involving the upper limbs"},{"container-title":"HP:0009813","author":[{"family":"Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009813","type":"entry-dictionary","title":"Upper limb phocomelia"},{"container-title":"HP:0009814","author":[{"family":"Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009814","type":"entry-dictionary","title":"Upper limb peromelia"},{"container-title":"HP:0009815","author":[{"family":"absent\/small extremities"},{"family":"short or absent limbs"},{"family":"shortened limbs"},{"family":"absent\/underdeveloped extremities"},{"family":"Absence (due to failure to form) or underdevelopment of the extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009815","type":"entry-dictionary","title":"Aplasia\/hypoplasia of the extremities"},{"container-title":"HP:0009816","author":[{"family":"lower limb undergrowth"},{"family":"hypoplasia involving bones of the lower limbs"},{"family":"hypoplasia of the lower limbs"},{"family":"underdeveloped lower limb bones"},{"family":"Leg shortening because of underdevelopment of one or more bones of the lower extremity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009816","type":"entry-dictionary","title":"Lower limb undergrowth"},{"container-title":"HP:0009817","author":[{"family":"absent bones of the lower limbs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009817","type":"entry-dictionary","title":"Aplasia involving bones of the lower limbs"},{"container-title":"HP:0009818","author":[{"family":"Amelia of one or both legs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009818","type":"entry-dictionary","title":"Amelia involving the lower limbs"},{"container-title":"HP:0009819","author":[{"family":"Phocomelia affecting only the lower limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009819","type":"entry-dictionary","title":"Lower limb phocomelia"},{"container-title":"HP:0009820","author":[{"family":"Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009820","type":"entry-dictionary","title":"Lower limb peromelia"},{"container-title":"HP:0009821","author":[{"family":"short forearm bones"},{"family":"shortened forearm"},{"family":"hypoplasia involving forearm bones"},{"family":"short forearms"},{"family":"forearm undergrowth"},{"family":"Forearm shortening because of underdevelopment of one or more bones of the forearm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009821","type":"entry-dictionary","title":"Forearm undergrowth"},{"container-title":"HP:0009822","author":[{"family":"absent forearm bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009822","type":"entry-dictionary","title":"Aplasia involving forearm bones"},{"container-title":"HP:0009823","author":[{"family":"absent bones of the upper limbs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009823","type":"entry-dictionary","title":"Aplasia involving bones of the upper limbs"},{"container-title":"HP:0009824","author":[{"family":"shortening of the arms"},{"family":"hypoplasia involving bones of the upper limbs"},{"family":"short arms"},{"family":"upper limb undergrowth"},{"family":"Arm shortening because of underdevelopment of one or more bones of the upper extremity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009824","type":"entry-dictionary","title":"Upper limb undergrowth"},{"container-title":"HP:0009825","author":[{"family":"absent bones of the extremities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009825","type":"entry-dictionary","title":"Aplasia involving bones of the extremities"},{"container-title":"HP:0009826","author":[{"family":"short limbs"},{"family":"limb shortening"},{"family":"hypoplasia involving bones of the extremities"},{"family":"limb undergrowth"},{"family":"Limb shortening because of underdevelopment of one or more bones of the extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009826","type":"entry-dictionary","title":"Limb undergrowth"},{"container-title":"HP:0009827","author":[{"family":"Congenital absence (aplasia) of one or more limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009827","type":"entry-dictionary","title":"Amelia"},{"container-title":"HP:0009828","author":[{"family":"The distal parts of the limbs are missing leading to a stump formation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009828","type":"entry-dictionary","title":"Peromelia"},{"container-title":"HP:0009829","author":[{"family":"Missing or malformed long bones of the extremities with the distal parts (such as hands and\/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009829","type":"entry-dictionary","title":"Phocomelia"},{"container-title":"HP:0009830","author":[{"family":"peripheral neuritis"},{"family":"peripheral nerve damage"},{"family":"neuropathy"},{"family":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009830","type":"entry-dictionary","title":"Peripheral neuropathy"},{"container-title":"HP:0009831","author":[{"family":"single damaged nerve"},{"family":"A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009831","type":"entry-dictionary","title":"Mononeuropathy"},{"container-title":"HP:0009832","author":[{"family":"abnormality of the outermost finger bone"},{"family":"abnormality of the distal phalanges of the hand"},{"family":"abnormal terminal phalanges of the hand"},{"family":"Any anomaly of distal phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009832","type":"entry-dictionary","title":"Abnormality of the distal phalanx of finger"},{"container-title":"HP:0009833","author":[{"family":"abnormality of the middle finger bones of the hand"},{"family":"An anomaly of middle phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009833","type":"entry-dictionary","title":"Abnormality of the middle phalanges of the hand"},{"container-title":"HP:0009834","author":[{"family":"abnormality of the innermost finger bones of the hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009834","type":"entry-dictionary","title":"Abnormality of the proximal phalanges of the hand"},{"container-title":"HP:0009835","author":[{"family":"absent\/small outermost finger bone of the hand"},{"family":"aplasia\/hypoplasia of the distal phalanges"},{"family":"hypoplastic\/aplastic distal phalanges"},{"family":"absent\/hypoplastic distal phalanges"},{"family":"hypoplastic\/aplastic distal phalanx"},{"family":"absent\/underdeveloped outermost finger bone of the hand"},{"family":"small or absent distal phalanges"},{"family":"aplastic\/hypoplastic distal phalanges"},{"family":"hypoplastic to absent terminal phalanges"},{"family":"Absence or underdevelopment of the distal phalanges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009835","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the distal phalanges of the hand"},{"container-title":"HP:0009836","author":[{"family":"broad, square ends of distal phalanges"},{"family":"broad terminal phalanges"},{"family":"spatulate terminal phalanges"},{"family":"broad distal phalanges of the hand"},{"family":"broad outermost finger bone"},{"family":"broad distal phalanx"},{"family":"Abnormally wide (broad) distal phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009836","type":"entry-dictionary","title":"Broad distal phalanx of finger"},{"container-title":"HP:0009837","author":[{"family":"bullet-shaped outermost finger bone of the hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009837","type":"entry-dictionary","title":"Bullet-shaped distal phalanges of the hand"},{"container-title":"HP:0009838","author":[{"family":"curved outermost finger bone of the hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009838","type":"entry-dictionary","title":"Curved distal phalanges of the hand"},{"container-title":"HP:0009839","author":[{"family":"osteolytic defects of the outermost finger bone of the hand"},{"family":"acroosteolysis of distal phalanges"},{"family":"acro-osteolysis of distal phalanges"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009839","type":"entry-dictionary","title":"Osteolytic defects of the distal phalanges of the hand"},{"container-title":"HP:0009840","author":[{"family":"uneven increase in bone density in outermost finger bone"},{"family":"patchy sclerosis of the distal phalanges of the hand"},{"family":"Uneven (irregular) increase in bone density of the distal phalanges of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009840","type":"entry-dictionary","title":"Patchy sclerosis of distal phalanx of finger"},{"container-title":"HP:0009843","author":[{"family":"aplastic\/hypoplastic middle phalanges"},{"family":"absent\/small middle finger bone of the hand"},{"family":"short to absent middle phalanges"},{"family":"absent\/hypoplastic middle phalanges"},{"family":"absent\/underdeveloped middle finger bone of the hand"},{"family":"aplasia\/hypoplasia of middle phalanges"},{"family":"short\/absent middle phalanges"},{"family":"hypoplastic\/aplastic middle phalanx"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009843","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the middle phalanges of the hand"},{"container-title":"HP:0009844","author":[{"family":"broad middle phalanges of the hand"},{"family":"broad middle finger bones"},{"family":"broad middle phalanges of finger"},{"family":"Increased width of the middle phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009844","type":"entry-dictionary","title":"Broad middle phalanx of finger"},{"container-title":"HP:0009845","author":[{"family":"bullet-shaped middle finger bones"},{"family":"Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009845","type":"entry-dictionary","title":"Bullet-shaped middle phalanges of the hand"},{"container-title":"HP:0009846","author":[{"family":"curved middle finger bonds of the hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009846","type":"entry-dictionary","title":"Curved middle phalanges of the hand"},{"container-title":"HP:0009847","author":[{"family":"Osteolytic defects of the middle phalanges of the hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009847","type":"entry-dictionary","title":"Osteolytic defects of the middle phalanges of the hand"},{"container-title":"HP:0009848","author":[{"family":"patchy sclerosis of the middle phalanges of the hand"},{"family":"uneven increase in bone density in the middle finger bones of the hand"},{"family":"Uneven (irregular) increase in bone density of one or more of the middle phalanges of the 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proximal phalanges of the hand"},{"container-title":"HP:0009875","author":[{"family":"triangular shaped outermost bone of the hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009875","type":"entry-dictionary","title":"Triangular shaped distal phalanges of the hand"},{"container-title":"HP:0009878","author":[{"family":"The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009878","type":"entry-dictionary","title":"Cerebellar ataxia associated with quadrupedal gait"},{"container-title":"HP:0009879","author":[{"family":"simplified gyral pattern"},{"family":"An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009879","type":"entry-dictionary","title":"Cortical gyral simplification"},{"container-title":"HP:0009880","author":[{"family":"broad outermost hand bones"},{"family":"Abnormally wide (broad) distal phalanx of finger of all fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009880","type":"entry-dictionary","title":"Broad distal phalanges of all fingers"},{"container-title":"HP:0009881","author":[{"family":"absent outermost hand bone"},{"family":"absent distal phalanges of the hand"},{"family":"aplasia of outermost hand bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009881","type":"entry-dictionary","title":"Aplasia of the distal phalanges of the hand"},{"container-title":"HP:0009882","author":[{"family":"distal phalangeal hypoplasia"},{"family":"short distal phalanges"},{"family":"terminal phalangeal hypoplasia of hand"},{"family":"hypoplastic terminal phalanges"},{"family":"hypoplastic distal phalanges"},{"family":"hypoplasic terminal phalanges"},{"family":"hypoplasia of the distal phalanges of the hand"},{"family":"brachytelophalangy"},{"family":"short outermost finger bone"},{"family":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009882","type":"entry-dictionary","title":"Short distal phalanx of finger"},{"container-title":"HP:0009883","author":[{"family":"bifid terminal phalanges"},{"family":"duplication of the outermost bone of hand"},{"family":"notched outermost bone of hand"},{"family":"partial\/complete duplication of the distal phalanges of the hand"},{"family":"This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009883","type":"entry-dictionary","title":"Duplication of the distal phalanx of hand"},{"container-title":"HP:0009884","author":[{"family":"tapered outermost finger bone"},{"family":"tapered distal phalanges of the hand"},{"family":"A reduction in diameter of the distal phalanx of finger towards the distal end."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009884","type":"entry-dictionary","title":"Tapered distal phalanges of finger"},{"container-title":"HP:0009886","author":[{"family":"Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009886","type":"entry-dictionary","title":"Trichorrhexis nodosa"},{"container-title":"HP:0009887","author":[{"family":"abnormality of hair pigmentation"},{"family":"abnormality of hair color"},{"family":"An abnormality of hair pigmentation (color)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009887","type":"entry-dictionary","title":"Abnormality of hair pigmentation"},{"container-title":"HP:0009888","author":[{"family":"abnormality of secondary sexual hair"},{"family":"Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009888","type":"entry-dictionary","title":"Abnormality of secondary sexual hair"},{"container-title":"HP:0009889","author":[{"family":"localized abnormal hair growth"},{"family":"Abnormally increased hair growth with a localized distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009889","type":"entry-dictionary","title":"Localized hirsutism"},{"container-title":"HP:0009890","author":[{"family":"high frontal hairline"},{"family":"Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009890","type":"entry-dictionary","title":"High anterior hairline"},{"container-title":"HP:0009891","author":[{"family":"depressed supraorbital margins"},{"family":"flat supraorbital ridge"},{"family":"flat supraorbital margins"},{"family":"hypoplasia of supraorbital margins"},{"family":"depressed supraorbital ridge"},{"family":"shallow orbital ridges"},{"family":"hypoplasia of the supraorbital ridges"},{"family":"hypoplastic supraorbital ridges"},{"family":"underdeveloped brows"},{"family":"shallow supraorbital ridge"},{"family":"Flatness of the supraorbital portion of the frontal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009891","type":"entry-dictionary","title":"Underdeveloped supraorbital ridges"},{"container-title":"HP:0009892","author":[{"family":"congenital absence of external ear"},{"family":"absent ears"},{"family":"Complete absence of any auricular structures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009892","type":"entry-dictionary","title":"Anotia"},{"container-title":"HP:0009893","author":[{"family":"The presence of telangiectasia of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009893","type":"entry-dictionary","title":"Telangiectasia of the ear"},{"container-title":"HP:0009894","author":[{"family":"thickened ears"},{"family":"Increased thickness of the external ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009894","type":"entry-dictionary","title":"Thickened ears"},{"container-title":"HP:0009895","author":[{"family":"abnormality of the crus of the ear"},{"family":"An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009895","type":"entry-dictionary","title":"Abnormality of the crus of the helix"},{"container-title":"HP:0009896","author":[{"family":"An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009896","type":"entry-dictionary","title":"Abnormality of the antitragus"},{"container-title":"HP:0009897","author":[{"family":"horizontal orientation of the ear crus"},{"family":"horizontal orientation of the crus of helix"},{"family":"helix, crus, horizontal"},{"family":"An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009897","type":"entry-dictionary","title":"Horizontal crus of helix"},{"container-title":"HP:0009898","author":[{"family":"underdeveloped crus of the ear"},{"family":"hypoplasia of the crus of the ear"},{"family":"Developmental hypoplasia of the crus of the helix. That is, flatter and\/or shorter crus helix than average."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009898","type":"entry-dictionary","title":"Underdeveloped crus of the helix"},{"container-title":"HP:0009899","author":[{"family":"hypertrophic helix crus"},{"family":"abnormal prominence of the crus of the ear"},{"family":"helix, crus, prominent"},{"family":"hyperplastic helix crus"},{"family":"The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009899","type":"entry-dictionary","title":"Prominent crus of helix"},{"container-title":"HP:0009900","author":[{"family":"deafness in one ear"},{"family":"deafness, unilateral"},{"family":"A unilateral absence of sensory perception of sound."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009900","type":"entry-dictionary","title":"Unilateral deafness"},{"container-title":"HP:0009901","author":[{"family":"crumpled ear"},{"family":"Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009901","type":"entry-dictionary","title":"Crumpled ear"},{"container-title":"HP:0009902","author":[{"family":"notched helix"},{"family":"notching of the ear helix"},{"family":"A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009902","type":"entry-dictionary","title":"Cleft helix"},{"container-title":"HP:0009903","author":[{"family":"Presence of nodules in the conjunctiva of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009903","type":"entry-dictionary","title":"Conjunctival nodule"},{"container-title":"HP:0009904","author":[{"family":"large helix"},{"family":"Abnormally prominent ear helix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009904","type":"entry-dictionary","title":"Prominent ear helix"},{"container-title":"HP:0009905","author":[{"family":"Decreased thickness of thehelix of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009905","type":"entry-dictionary","title":"Thin ear helix"},{"container-title":"HP:0009906","author":[{"family":"absent\/underdeveloped ear lobes"},{"family":"absent\/small ear lobes"},{"family":"Absence or underdevelopment of the ear lobes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009906","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the earlobes"},{"container-title":"HP:0009907","author":[{"family":"attached earlobe"},{"family":"adherent earlobe"},{"family":"Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009907","type":"entry-dictionary","title":"Attached earlobe"},{"container-title":"HP:0009908","author":[{"family":"transverse earlobe creases"},{"family":"Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009908","type":"entry-dictionary","title":"Anterior creases of earlobe"},{"container-title":"HP:0009909","author":[{"family":"upturned earlobes"},{"family":"fleshy upturned lobules"},{"family":"uplifted earlobes"},{"family":"lobe, uplifted"},{"family":"An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009909","type":"entry-dictionary","title":"Uplifted earlobe"},{"container-title":"HP:0009910","author":[{"family":"absent middle ear ossicles"},{"family":"absent middle ear bones"},{"family":"Absence of the middle ear ossicles, malleus, incus, and stapes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009910","type":"entry-dictionary","title":"Aplasia of the middle ear ossicles"},{"container-title":"HP:0009911","author":[{"family":"Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009911","type":"entry-dictionary","title":"Abnormality of the temporal bone"},{"container-title":"HP:0009912","author":[{"family":"An abnormality of the tragus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009912","type":"entry-dictionary","title":"Abnormality of the tragus"},{"container-title":"HP:0009913","author":[{"family":"absent\/underdeveloped tragus"},{"family":"absent\/small tragus"},{"family":"Aplasia or developmental hypoplasia of the tragus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009913","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the tragus"},{"container-title":"HP:0009914","author":[{"family":"cyclops eye"},{"family":"single central eye"},{"family":"Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009914","type":"entry-dictionary","title":"Cyclopia"},{"container-title":"HP:0009915","author":[{"family":"asymmetry of the corneas"},{"family":"The presence of a size difference between the left and right cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009915","type":"entry-dictionary","title":"Corneal asymmetry"},{"container-title":"HP:0009916","author":[{"family":"unequal pupil size"},{"family":"asymmetric pupil sizes"},{"family":"asymmetry of the pupils"},{"family":"unequal pupil dilatation"},{"family":"Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009916","type":"entry-dictionary","title":"Anisocoria"},{"container-title":"HP:0009917","author":[{"family":"The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009917","type":"entry-dictionary","title":"Persistent pupillary membrane"},{"container-title":"HP:0009918","author":[{"family":"displaced pupil"},{"family":"corectopia"},{"family":"A malposition of the pupil owing to a developmental defect of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009918","type":"entry-dictionary","title":"Ectopia pupillae"},{"container-title":"HP:0009919","author":[{"family":"retina tumor"},{"family":"A tumor of the eye originating from cells of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009919","type":"entry-dictionary","title":"Retinoblastoma"},{"container-title":"HP:0009920","author":[{"family":"naevus fuscoceruleus ophthalmomaxillaris"},{"family":"congenital melanosis bulbi"},{"family":"nevus fuscoceruleus ophthalmomaxillaris"},{"family":"oculodermal melanocytosis"},{"family":"A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009920","type":"entry-dictionary","title":"Nevus of Ota"},{"container-title":"HP:0009921","author":[{"family":"globe retraction and deviation on adduction"},{"family":"limited eye movement from duane anomaly"},{"family":"limited eye motility from duane anomaly"},{"family":"A condition asspciated with limitation of horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009921","type":"entry-dictionary","title":"Duane anomaly"},{"container-title":"HP:0009922","author":[{"family":"persistence of the hyaloid artery"},{"family":"persistent hyaloid artery"},{"family":"Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009922","type":"entry-dictionary","title":"Vascular remnant arising from the disc"},{"container-title":"HP:0009924","author":[{"family":"decreased nasal size"},{"family":"hypoplasia of the nose"},{"family":"decreased size of nose"},{"family":"hypotrophic nose"},{"family":"Underdevelopment or absence of the nose or parts thereof."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009924","type":"entry-dictionary","title":"Aplasia\/Hypoplasia involving the nose"},{"container-title":"HP:0009926","author":[{"family":"increased tears"},{"family":"increased lacrimation"},{"family":"tearing"},{"family":"watery eyes"},{"family":"Abnormally increased lacrimation, that is, excessive tearing (watering eye)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009926","type":"entry-dictionary","title":"Epiphora"},{"container-title":"HP:0009927","author":[{"family":"missing nose"},{"family":"underdevelopment of nose"},{"family":"absent nose"},{"family":"nasal underdevelopment"},{"family":"failure of development of nose"},{"family":"arrhinia"},{"family":"Complete absence of all nasal structures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009927","type":"entry-dictionary","title":"Aplasia of the nose"},{"container-title":"HP:0009928","author":[{"family":"ala nasi, thick"},{"family":"thickening of the alae nasi"},{"family":"Increase in bulk of the ala nasi."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009928","type":"entry-dictionary","title":"Thick nasal alae"},{"container-title":"HP:0009929","author":[{"family":"malformation of the columella"},{"family":"anomaly of the columella"},{"family":"deformity of the columella"},{"family":"An abnormality of the columella."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009929","type":"entry-dictionary","title":"Abnormality of the columella"},{"container-title":"HP:0009930","author":[{"family":"unequal nostril shape"},{"family":"asymmetry of nostrils"},{"family":"uneven nostril shape"},{"family":"crooked nostrils"},{"family":"unequal nostril size"},{"family":"uneven nostril size"},{"family":"Asymmetry or size difference between the left and right nostril."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009930","type":"entry-dictionary","title":"Asymmetry of the nares"},{"container-title":"HP:0009931","author":[{"family":"enlarged nostril"},{"family":"increased diameter of nares"},{"family":"naris, enlarged"},{"family":"increased width of nares"},{"family":"large nares"},{"family":"increased diameter of nostril"},{"family":"dilated nostril"},{"family":"broad nostril"},{"family":"naris, broad"},{"family":"wide nares"},{"family":"dilated nares"},{"family":"enlarged nares"},{"family":"wide nostril"},{"family":"Increased aperture of the nostril."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009931","type":"entry-dictionary","title":"Enlarged naris"},{"container-title":"HP:0009932","author":[{"family":"single nostril"},{"family":"single nare"},{"family":"one nostril"},{"family":"mono nostril"},{"family":"The presence of only a single nostril."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009932","type":"entry-dictionary","title":"Single naris"},{"container-title":"HP:0009933","author":[{"family":"collapsed nostrils"},{"family":"narrow nares"},{"family":"thin nares"},{"family":"small nostrils"},{"family":"naris, narrow"},{"family":"naris, slit-like"},{"family":"thin nostrils"},{"family":"slit-like nostrils"},{"family":"narrow nostrils"},{"family":"Slender, slit-like aperture of the nostril."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009933","type":"entry-dictionary","title":"Narrow naris"},{"container-title":"HP:0009934","author":[{"family":"accessory nares"},{"family":"extra nostril"},{"family":"supernumerary nares"},{"family":"supernumerary nostrils"},{"family":"accessory nostril"},{"family":"The presence of more than two nostrils."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009934","type":"entry-dictionary","title":"Supernumerary naris"},{"container-title":"HP:0009935","author":[{"family":"failure of development of nasal septum"},{"family":"ageneis of nasal septum"},{"family":"underdevelopment of nasal septum"},{"family":"Absence or underdevelopment of the nasal septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009935","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the nasal septum"},{"container-title":"HP:0009936","author":[{"family":"narrow nasal septum"},{"family":"narrow septum of nose"},{"family":"thin septum of nose"},{"family":"thin nasal septum"},{"family":"decreased width of nasal septum"},{"family":"Abnormally narrow nasal 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In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009942","type":"entry-dictionary","title":"Duplication of thumb phalanx"},{"container-title":"HP:0009943","author":[{"family":"digitalization of thumbs"},{"family":"complete duplication of the phalanges of the thumb"},{"family":"complete duplication of thumb bones"},{"family":"A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009943","type":"entry-dictionary","title":"Complete duplication of thumb phalanx"},{"container-title":"HP:0009944","author":[{"family":"notching of thumb phalanges"},{"family":"partial duplication of the phalanges of the thumb"},{"family":"bifid thumb"},{"family":"partial duplication of the thumb bones"},{"family":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009944","type":"entry-dictionary","title":"Partial duplication of thumb phalanx"},{"container-title":"HP:0009945","author":[{"family":"duplication of the bones of index finger"},{"family":"partial\/complete duplication of phalanges of the 2nd finger"},{"family":"This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009945","type":"entry-dictionary","title":"Duplication of phalanx of 2nd finger"},{"container-title":"HP:0009946","author":[{"family":"extra index finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009946","type":"entry-dictionary","title":"Polydactyly affecting the 2nd finger"},{"container-title":"HP:0009947","author":[{"family":"partial\/complete duplication of the proximal phalanx of the 2nd finger"},{"family":"duplication of the proximal bones of the index finger"},{"family":"Partial or complete duplication of the second proximal phalanx of hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009947","type":"entry-dictionary","title":"Duplication of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009948","author":[{"family":"partial\/complete duplication of the outermost bone of the index finger"},{"family":"partial\/complete duplication of the distal phalanx of the 2nd finger"},{"family":"Partial or complete duplication of the distal phalanx of index finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009948","type":"entry-dictionary","title":"Duplication of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009949","author":[{"family":"partial\/complete duplication of the middle phalanx of the 2nd finger"},{"family":"partial\/complete duplication of the middle bones of the index finger"},{"family":"Partial or complete duplication of the middle phalanx of index finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009949","type":"entry-dictionary","title":"Duplication of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009950","author":[{"family":"complete duplication of the outermost bone of the index finger"},{"family":"Complete duplication of the distal phalanx of index finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009950","type":"entry-dictionary","title":"Complete duplication of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009951","author":[{"family":"notched outermost bone of the index finger"},{"family":"partial duplication of the outermost bone of the 2nd finger"},{"family":"bifid terminal phalanx of the 2nd finger"},{"family":"Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and\/or bifid phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009951","type":"entry-dictionary","title":"Partial duplication of the distal phalanx of the 2nd finger"},{"container-title":"HP:0009952","author":[{"family":"complete duplication of the middle bone of the index finger"},{"family":"Complete duplication of the middle phalanx of index finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009952","type":"entry-dictionary","title":"Complete duplication of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009953","author":[{"family":"partial duplication of the middle bone of the index finger"},{"family":"Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and\/or bifid phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009953","type":"entry-dictionary","title":"Partial duplication of the middle phalanx of the 2nd finger"},{"container-title":"HP:0009954","author":[{"family":"complete duplication of the proximal bone of the index finger"},{"family":"Complete duplication of the Second proximal phalanx of hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009954","type":"entry-dictionary","title":"Complete duplication of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009955","author":[{"family":"partial duplication of the proximal bones of the index finger"},{"family":"Partial duplication of the Second proximal phalanx of hand, seen on x-rays as a broad and\/or bifid phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009955","type":"entry-dictionary","title":"Partial duplication of the proximal phalanx of the 2nd finger"},{"container-title":"HP:0009956","author":[{"family":"partial duplication of the bones of the index finger"},{"family":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009956","type":"entry-dictionary","title":"Partial duplication of the phalanges of the 2nd finger"},{"container-title":"HP:0009957","author":[{"family":"complete duplication of the bones of the index finger"},{"family":"A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009957","type":"entry-dictionary","title":"Complete duplication of the phalanges of the 2nd finger"},{"container-title":"HP:0009958","author":[{"family":"extra middle finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009958","type":"entry-dictionary","title":"Polydactyly affecting the 3rd finger"},{"container-title":"HP:0009959","author":[{"family":"partial\/complete duplication of phalanges of the 3rd finger"},{"family":"duplication of middle finger bone"},{"family":"This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009959","type":"entry-dictionary","title":"Duplication of phalanx of 3rd finger"},{"container-title":"HP:0009960","author":[{"family":"complete duplication of middle finger bones"},{"family":"A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009960","type":"entry-dictionary","title":"Complete duplication of the phalanges of the 3rd finger"},{"container-title":"HP:0009961","author":[{"family":"partial duplication of middle finger bones"},{"family":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009961","type":"entry-dictionary","title":"Partial duplication of the phalanges of the 3rd finger"},{"container-title":"HP:0009962","author":[{"family":"partial\/complete duplication of the outermost bone of the middle finger"},{"family":"partial\/complete duplication of the distal phalanx of the 3rd finger"},{"family":"Partial or complete duplication of the distal phalanx of middle finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009962","type":"entry-dictionary","title":"Duplication of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009963","author":[{"family":"partial\/complete duplication of the middle phalanx of the 3rd finger"},{"family":"duplication of the middle bone of the middle finger"},{"family":"Partial or complete duplication of the middle phalanx of middle finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009963","type":"entry-dictionary","title":"Duplication of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009964","author":[{"family":"duplication of the proximal bone of the middle finger"},{"family":"partial\/complete duplication of the proximal phalanx of the 3rd finger"},{"family":"Partial or complete duplication of the third proximal phalanx of hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009964","type":"entry-dictionary","title":"Duplication of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009965","author":[{"family":"complete duplication of the outermost bone of the 3rd finger"},{"family":"Complete duplication of the distal phalanx of middle finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009965","type":"entry-dictionary","title":"Complete duplication of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009966","author":[{"family":"complete duplication of the middle bone of the middle finger"},{"family":"Complete duplication of the middle phalanx of middle finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009966","type":"entry-dictionary","title":"Complete duplication of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009967","author":[{"family":"complete duplication of the innermost bone of the 3rd finger"},{"family":"Complete duplication of the third proximal phalanx of hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009967","type":"entry-dictionary","title":"Complete duplication of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009968","author":[{"family":"bifid terminal phalanx of the 3rd finger"},{"family":"partial duplication of the outermost bone of the middle finger"},{"family":"notched outermost bone of the middle finger"},{"family":"Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and\/or bifid phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009968","type":"entry-dictionary","title":"Partial duplication of the distal phalanx of the 3rd finger"},{"container-title":"HP:0009969","author":[{"family":"partial duplication of the middle bone of the 3rd finger"},{"family":"Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and\/or bifid phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009969","type":"entry-dictionary","title":"Partial duplication of the middle phalanx of the 3rd finger"},{"container-title":"HP:0009970","author":[{"family":"partial duplication of the proximal bone of the middle finger"},{"family":"Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and\/or bifid phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009970","type":"entry-dictionary","title":"Partial duplication of the proximal phalanx of the 3rd finger"},{"container-title":"HP:0009971","author":[{"family":"extra ring finger"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009971","type":"entry-dictionary","title":"Polydactyly affecting the 4th finger"},{"container-title":"HP:0009972","author":[{"family":"duplication of bones of the ring finger"},{"family":"partial\/complete duplication of phalanges of the 4th finger"},{"family":"This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009972","type":"entry-dictionary","title":"Duplication of phalanx of 4th finger"},{"container-title":"HP:0009973","author":[{"family":"complete duplication of the bones of the ring finger"},{"family":"A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009973","type":"entry-dictionary","title":"Complete duplication of the phalanges of the 4th finger"},{"container-title":"HP:0009974","author":[{"family":"partial duplication of the bones of the ring finger"},{"family":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009974","type":"entry-dictionary","title":"Partial duplication of the phalanges of the 4th finger"},{"container-title":"HP:0009975","author":[{"family":"partial\/complete duplication of the outermost bone of the ring finger"},{"family":"partial\/complete duplication of the distal phalanx of the 4th finger"},{"family":"Partial or complete duplication of the distal phalanx of ring finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009975","type":"entry-dictionary","title":"Duplication of the distal phalanx of the 4th finger"},{"container-title":"HP:0009976","author":[{"family":"partial\/complete duplication of the middle bone of the ring finger"},{"family":"partial\/complete duplication of the middle phalanx of the 4th finger"},{"family":"Partial or complete duplication of the middle phalanx of ring finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009976","type":"entry-dictionary","title":"Duplication of the middle phalanx of the 4th finger"},{"container-title":"HP:0009977","author":[{"family":"partial\/complete duplication of the proximal phalanx of the 4th finger"},{"family":"duplication of the proximal bone of the ring finger"},{"family":"Partial or complete duplication of the fourth proximal phalanx of hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009977","type":"entry-dictionary","title":"Duplication of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009978","author":[{"family":"complete duplication of the outermost bone of the ring finger"},{"family":"Complete duplication of the distal phalanx of ring finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009978","type":"entry-dictionary","title":"Complete duplication of the distal phalanx of the 4th finger"},{"container-title":"HP:0009979","author":[{"family":"complete duplication of the middle bone of the ring finger"},{"family":"Complete duplication of the middle phalanx of ring finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009979","type":"entry-dictionary","title":"Complete duplication of the middle phalanx of the 4th finger"},{"container-title":"HP:0009980","author":[{"family":"complete duplication of the proximal bone of the ring finger"},{"family":"Complete duplication of the fourth proximal phalanx of hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009980","type":"entry-dictionary","title":"Complete duplication of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009981","author":[{"family":"partial duplication of the outermost bone of the ring finger"},{"family":"bifid terminal phalanx of the 4th finger"},{"family":"notched outermost bone of the ring finger"},{"family":"Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and\/or bifid phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009981","type":"entry-dictionary","title":"Partial duplication of the distal phalanx of the 4th finger"},{"container-title":"HP:0009982","author":[{"family":"partial duplication of the middle bone of the ring finger"},{"family":"Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and\/or bifid phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009982","type":"entry-dictionary","title":"Partial duplication of the middle phalanx of the 4th finger"},{"container-title":"HP:0009983","author":[{"family":"partial duplication of the innermost bone of the ring finger"},{"family":"Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and\/or bifid phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009983","type":"entry-dictionary","title":"Partial duplication of the proximal phalanx of the 4th finger"},{"container-title":"HP:0009985","author":[{"family":"partial\/complete duplication of pinky finger bone"},{"family":"partial\/complete duplication of little finger bone"},{"family":"partial\/complete duplication of pinkie finger bone"},{"family":"partial\/complete duplication of phalanges of the 5th finger"},{"family":"This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009985","type":"entry-dictionary","title":"Duplication of phalanx of 5th finger"},{"container-title":"HP:0009986","author":[{"family":"complete duplication of the little finger bone"},{"family":"complete duplication of the pinky finger bone"},{"family":"complete duplication of the pinkie finger bone"},{"family":"A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009986","type":"entry-dictionary","title":"Complete duplication of the phalanges of the 5th finger"},{"container-title":"HP:0009987","author":[{"family":"partial duplication of the little finger bone"},{"family":"partial duplication of the pinkie finger bone"},{"family":"partial duplication of the pinky finger bone"},{"family":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009987","type":"entry-dictionary","title":"Partial duplication of the phalanges of the 5th finger"},{"container-title":"HP:0009988","author":[{"family":"partial\/complete duplication of the distal phalanx of the 5th finger"},{"family":"duplication of the outermost pinkie finger bone"},{"family":"duplication of the outermost little finger bone"},{"family":"duplication of the outermost pinky finger bone"},{"family":"Partial or complete duplication of the distal phalanx of little finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009988","type":"entry-dictionary","title":"Duplication of the distal phalanx of the 5th finger"},{"container-title":"HP:0009989","author":[{"family":"duplication of the middle little finger bone"},{"family":"duplication of the middle pinkie finger bone"},{"family":"partial\/complete duplication of the 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of the outermost pinkie finger bone"},{"family":"complete duplication of the outermost pinky finger bone"},{"family":"Complete duplication of the distal phalanx of little finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009991","type":"entry-dictionary","title":"Complete duplication of the distal phalanx of the 5th finger"},{"container-title":"HP:0009992","author":[{"family":"complete duplication of the middle pinkie finger bone"},{"family":"complete duplication of the middle little finger bone"},{"family":"complete duplication of the middle pinky finger bone"},{"family":"Complete duplication of the fifth middle phalanx of hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009992","type":"entry-dictionary","title":"Complete duplication of the middle phalanx of the 5th finger"},{"container-title":"HP:0009993","author":[{"family":"complete duplication of the innermost little finger bone"},{"family":"complete duplication of the innermost pinkie finger bone"},{"family":"complete duplication of the innermost pinky finger bone"},{"family":"Complete duplication of the fifth proximal phalanx of hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009993","type":"entry-dictionary","title":"Complete duplication of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009994","author":[{"family":"notched outermost pinky finger bone"},{"family":"partial duplication of outermost pinkie finger bone"},{"family":"bifid terminal phalanx of the 5th finger"},{"family":"partial duplication of outermost pinky finger bone"},{"family":"partial duplication of outermost little finger bone"},{"family":"Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and\/or bifid phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009994","type":"entry-dictionary","title":"Partial duplication of the distal phalanx of the 5th finger"},{"container-title":"HP:0009995","author":[{"family":"partial duplication of the middle little finger bone"},{"family":"partial duplication of the middle pinkie finger bone"},{"family":"partial duplication of the middle pinky finger bone"},{"family":"Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and\/or bifid phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009995","type":"entry-dictionary","title":"Partial duplication of the middle phalanx of the 5th finger"},{"container-title":"HP:0009996","author":[{"family":"partial duplication of the innermost pinkie finger bone"},{"family":"partial duplication of the innermost pinky finger bone"},{"family":"partial duplication of the innermost little finger bone"},{"family":"Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and\/or bifid phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009996","type":"entry-dictionary","title":"Partial duplication of the proximal phalanx of the 5th finger"},{"container-title":"HP:0009997","author":[{"family":"duplication of finger bones"},{"family":"This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009997","type":"entry-dictionary","title":"Duplication of phalanx of hand"},{"container-title":"HP:0009998","author":[{"family":"complete duplication of hand bones"},{"family":"A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009998","type":"entry-dictionary","title":"Complete duplication of phalanx of hand"},{"container-title":"HP:0009999","author":[{"family":"partial duplication of hand bones"},{"family":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0009999","type":"entry-dictionary","title":"Partial duplication of the phalanx of hand"},{"container-title":"HP:0010000","author":[{"family":"complete duplication of the innermost bones of the hand"},{"family":"A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010000","type":"entry-dictionary","title":"Complete duplication of the proximal phalanges of the hand"},{"container-title":"HP:0010001","author":[{"family":"complete duplication of the outermost bones of the hand"},{"family":"A complete duplication affecting one or more of the distal phalanges of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010001","type":"entry-dictionary","title":"Complete duplication of the distal phalanges of the hand"},{"container-title":"HP:0010002","author":[{"family":"complete duplication of the middle bones of the hand"},{"family":"A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010002","type":"entry-dictionary","title":"Complete duplication of the middle phalanges of the hand"},{"container-title":"HP:0010003","author":[{"family":"partial duplication of the innermost bones of the hand"},{"family":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010003","type":"entry-dictionary","title":"Partial duplication of the proximal phalanges of the hand"},{"container-title":"HP:0010004","author":[{"family":"bifid terminal phalanges of the hand"},{"family":"partial duplication of the outermost bone of the hand"},{"family":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010004","type":"entry-dictionary","title":"Partial duplication of the distal phalanges of the hand"},{"container-title":"HP:0010005","author":[{"family":"partial duplication of the middle bones of hand"},{"family":"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010005","type":"entry-dictionary","title":"Partial duplication of the middle phalanges of the hand"},{"container-title":"HP:0010006","author":[{"family":"duplication of the innermost bones of hand"},{"family":"partial\/complete duplication of the proximal phalanges of the hand"},{"family":"This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010006","type":"entry-dictionary","title":"Duplication of the proximal phalanx of hand"},{"container-title":"HP:0010008","author":[{"family":"duplication of the middle bones of hand"},{"family":"partial\/complete duplication of the middle phalanges of the hand"},{"family":"This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010008","type":"entry-dictionary","title":"Duplication of the middle phalanx of hand"},{"container-title":"HP:0010009","author":[{"family":"abnormality of the 1st long bone of hand"},{"family":"A structural anomaly of the first metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010009","type":"entry-dictionary","title":"Abnormality of the 1st metacarpal"},{"container-title":"HP:0010010","author":[{"family":"abnormality of the 2nd long bone of hand"},{"family":"Any abnormality of the second metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010010","type":"entry-dictionary","title":"Abnormality of the 2nd metacarpal"},{"container-title":"HP:0010011","author":[{"family":"abnormality of the 3rd long bone of hand"},{"family":"Any abnormality of the third metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010011","type":"entry-dictionary","title":"Abnormality of the 3rd metacarpal"},{"container-title":"HP:0010012","author":[{"family":"abnormality of the 4th long bone of hand"},{"family":"Any abnormality of the fourth metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010012","type":"entry-dictionary","title":"Abnormality of the 4th metacarpal"},{"container-title":"HP:0010013","author":[{"family":"abnormality of the 5th long bone of hand"},{"family":"Any abnormality of the fifth metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010013","type":"entry-dictionary","title":"Abnormality of the 5th metacarpal"},{"container-title":"HP:0010014","author":[{"family":"abnormality of the end part of the 1st long bone of hand"},{"family":"In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010014","type":"entry-dictionary","title":"Abnormality of the epiphysis of the 1st metacarpal"},{"container-title":"HP:0010015","author":[{"family":"absent end part of the 1st long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010015","type":"entry-dictionary","title":"Absent epiphysis of the 1st metacarpal"},{"container-title":"HP:0010016","author":[{"family":"bracket shaped end part of 1st long bone of hand"},{"family":"An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010016","type":"entry-dictionary","title":"Bracket epiphysis of the 1st metacarpal"},{"container-title":"HP:0010017","author":[{"family":"cone-shaped end part of the 1st long bone of hand"},{"family":"A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010017","type":"entry-dictionary","title":"Cone-shaped epiphysis of the 1st metacarpal"},{"container-title":"HP:0010018","author":[{"family":"enlarged end part of the 1st long bone of hand"},{"family":"Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010018","type":"entry-dictionary","title":"Enlarged epiphysis of the 1st metacarpal"},{"container-title":"HP:0010019","author":[{"family":"fragmentation of the end part of the 1st long bone of hand"},{"family":"Epiphysis of the 1st metacarpal having multiple bony fragments."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010019","type":"entry-dictionary","title":"Fragmentation of the epiphysis of the 1st metacarpal"},{"container-title":"HP:0010020","author":[{"family":"irregular end part of the 1st long bone of hand"},{"family":"Uneven radiographic opacity of the epiphysis of the 1st metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010020","type":"entry-dictionary","title":"Irregular epiphysis of the 1st metacarpal"},{"container-title":"HP:0010021","author":[{"family":"increased bone density of end part of the 1st long bone of hand"},{"family":"The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010021","type":"entry-dictionary","title":"Ivory epiphysis of the 1st metacarpal"},{"container-title":"HP:0010022","author":[{"family":"The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010022","type":"entry-dictionary","title":"Pseudoepiphysis of the 1st metacarpal"},{"container-title":"HP:0010023","author":[{"family":"small end part of the 1st long bone of hand"},{"family":"Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010023","type":"entry-dictionary","title":"Small epiphysis of the 1st metacarpal"},{"container-title":"HP:0010024","author":[{"family":"stippling of the epiphysis of the 1st metacarpal"},{"family":"speckled calcifications in the end part of the first long bone of hand"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010024","type":"entry-dictionary","title":"Epiphyseal stippling of the first metacarpal"},{"container-title":"HP:0010025","author":[{"family":"triangular end part of the 1st long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010025","type":"entry-dictionary","title":"Triangular epiphysis of the 1st metacarpal"},{"container-title":"HP:0010026","author":[{"family":"absent\/small 1st long bone of hand"},{"family":"absent\/underdeveloped 1st long bone of hand"},{"family":"Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010026","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the 1st metacarpal"},{"container-title":"HP:0010027","author":[{"family":"wide 1st long bone of hand"},{"family":"Increased width of the 1st metacarapal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010027","type":"entry-dictionary","title":"Broad 1st metacarpal"},{"container-title":"HP:0010028","author":[{"family":"bullet-shaped 1st long bone of hand"},{"family":"The presence of short and wide 1st metacarpal which tapers distally (\"bullet shaped\")."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010028","type":"entry-dictionary","title":"Bullet-shaped 1st metacarpal"},{"container-title":"HP:0010029","author":[{"family":"curved 1st long bone of hand"},{"family":"A deviation from the normal straight shape of the first metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010029","type":"entry-dictionary","title":"Curved 1st metacarpal"},{"container-title":"HP:0010030","author":[{"family":"Dissolution or degeneration of bone tissue of the 1st metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010030","type":"entry-dictionary","title":"Osteolytic defects of the 1st metacarpal"},{"container-title":"HP:0010031","author":[{"family":"uneven increase in bone density in 1st long bone of hand"},{"family":"Uneven increase in bone density within the 1st metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010031","type":"entry-dictionary","title":"Patchy sclerosis of the 1st metacarpal"},{"container-title":"HP:0010033","author":[{"family":"triangular shaped 1st long bone of hand"},{"family":"This term applies to a triangular shaped 1st metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010033","type":"entry-dictionary","title":"Triangular shaped 1st metacarpal"},{"container-title":"HP:0010034","author":[{"family":"hypoplastic 1st metacarpal"},{"family":"short first metacarpals"},{"family":"first metacarpal hypoplasia"},{"family":"shortened 1st long bone of hand"},{"family":"first metacarpals hypoplastic"},{"family":"In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010034","type":"entry-dictionary","title":"Short 1st metacarpal"},{"container-title":"HP:0010035","author":[{"family":"absent first metacarpal"},{"family":"absent 1st long bone of hand"},{"family":"In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010035","type":"entry-dictionary","title":"Aplasia of the 1st metacarpal"},{"container-title":"HP:0010036","author":[{"family":"absent\/underdeveloped 2nd long bone of hand"},{"family":"absent\/small 2nd long bone of hand"},{"family":"Aplasia or Hypoplasia affecting the 2nd metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010036","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the 2nd metacarpal"},{"container-title":"HP:0010037","author":[{"family":"absent 2nd long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010037","type":"entry-dictionary","title":"Aplasia of the 2nd metacarpal"},{"container-title":"HP:0010038","author":[{"family":"shortened 2nd long bone of hand"},{"family":"hypoplastic 2nd metacarpal"},{"family":"rudimentary 2nd metacarpal"},{"family":"Short second metacarpal bone because of developmental hypoplasia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010038","type":"entry-dictionary","title":"Short 2nd metacarpal"},{"container-title":"HP:0010039","author":[{"family":"absent\/underdeveloped 3rd long bone of hand"},{"family":"absent\/small 3rd long bone of hand"},{"family":"Aplasia or Hypoplasia affecting the 3rd metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010039","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the 3rd metacarpal"},{"container-title":"HP:0010040","author":[{"family":"absent 3rd long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010040","type":"entry-dictionary","title":"Aplasia of the 3rd metacarpal"},{"container-title":"HP:0010041","author":[{"family":"small 3rd metacarpals"},{"family":"short third metacarpals"},{"family":"hypoplastic 3rd metacarpal"},{"family":"shortened 3rd long bone of hand"},{"family":"Short third metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010041","type":"entry-dictionary","title":"Short 3rd metacarpal"},{"container-title":"HP:0010042","author":[{"family":"absent\/small 4th long bone of hand"},{"family":"absent\/underdeveloped 4th long bone of hand"},{"family":"Aplasia or Hypoplasia affecting the 4th metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010042","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the 4th metacarpal"},{"container-title":"HP:0010043","author":[{"family":"absent 4th long bone of hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010043","type":"entry-dictionary","title":"Aplasia of the 4th metacarpal"},{"container-title":"HP:0010044","author":[{"family":"shortened 4th long bone of hand"},{"family":"short 4th metacarpals"},{"family":"short fourth metacarpals"},{"family":"hypoplastic fourth metacarpal"},{"family":"Short fourth metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010044","type":"entry-dictionary","title":"Short 4th metacarpal"},{"container-title":"HP:0010045","author":[{"family":"absent\/small 5th long bone of hand"},{"family":"absent\/underdeveloped 5th long bone of hand"},{"family":"Aplasia or Hypoplasia affecting the 5th metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010045","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the 5th metacarpal"},{"container-title":"HP:0010046","author":[{"family":"absent 5th long bone of hand"},{"family":"absent 5th metacarpal"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010046","type":"entry-dictionary","title":"Aplasia of the 5th metacarpal"},{"container-title":"HP:0010047","author":[{"family":"hypoplastic 5th metacarpal"},{"family":"shortened 5th long bone of hand"},{"family":"fifth metacarpal hypoplasia"},{"family":"short fifth metacarpals"},{"family":"Short fifth metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010047","type":"entry-dictionary","title":"Short 5th metacarpal"},{"container-title":"HP:0010048","author":[{"family":"absent long bone of hand"},{"family":"absent metacarpals"},{"family":"Developmental defect associated with absence of one or more metacarpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010048","type":"entry-dictionary","title":"Aplasia of metacarpal bones"},{"container-title":"HP:0010049","author":[{"family":"hypoplastic metacarpal"},{"family":"metacarpal hypoplasia"},{"family":"short metacarpals"},{"family":"shortened long bone of hand"},{"family":"short metacarpal bones"},{"family":"shortened metacarpals"},{"family":"shortening of metacarpals"},{"family":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010049","type":"entry-dictionary","title":"Short metacarpal"},{"container-title":"HP:0010051","author":[{"family":"displacement of big toe"},{"family":"displacement of the hallux"},{"family":"Displacement of the big toe from its normal position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010051","type":"entry-dictionary","title":"Deviation of the hallux"},{"container-title":"HP:0010052","author":[{"family":"abnormal innermost big toe bone"},{"family":"In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010052","type":"entry-dictionary","title":"Abnormality of the proximal phalanx of the hallux"},{"container-title":"HP:0010053","author":[{"family":"abnormality of the outermost bone of the big toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010053","type":"entry-dictionary","title":"Abnormality of the distal phalanx of the hallux"},{"container-title":"HP:0010054","author":[{"family":"abnormality of the 1st long bone of foot"},{"family":"An anomaly of the first metatarsal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010054","type":"entry-dictionary","title":"Abnormality of the first metatarsal bone"},{"container-title":"HP:0010055","author":[{"family":"abnormally broad great toes"},{"family":"broad big toe"},{"family":"broad halluces"},{"family":"wide big toe"},{"family":"Visible increase in width of the hallux without an increase in the dorso-ventral dimension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010055","type":"entry-dictionary","title":"Broad hallux"},{"container-title":"HP:0010056","author":[{"family":"abnormality of the end part of the big toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010056","type":"entry-dictionary","title":"Abnormality of the epiphyses of the hallux"},{"container-title":"HP:0010057","author":[{"family":"abnormal big toe bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010057","type":"entry-dictionary","title":"Abnormality of the phalanges of the hallux"},{"container-title":"HP:0010058","author":[{"family":"absent\/small big toe bone"},{"family":"absent\/underdeveloped big toe bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010058","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the phalanges of the hallux"},{"container-title":"HP:0010059","author":[{"family":"broad phalanges of the hallux"},{"family":"broad bone of big toe"},{"family":"wide bone of big toe"},{"family":"An increase in width in one or more phalanges of the big toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010059","type":"entry-dictionary","title":"Broad hallux 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This can take on many forms depending on severity and distribution as can be seen on x-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010190","type":"entry-dictionary","title":"Patchy sclerosis of distal toe phalanx"},{"container-title":"HP:0010191","author":[{"family":"fused outermost bones of toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010191","type":"entry-dictionary","title":"Symphalangism affecting the distal phalanges of the toes"},{"container-title":"HP:0010192","author":[{"family":"triangular shaped outermost bone of the toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010192","type":"entry-dictionary","title":"Triangular shaped distal phalanges of the toes"},{"container-title":"HP:0010193","author":[{"family":"duplication of outermost bone of toe"},{"family":"partial\/complete duplication of the distal phalanges of the toes"},{"family":"A partial or complete duplication of one or more distal phalanx of toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010193","type":"entry-dictionary","title":"Duplication of distal phalanx of toe"},{"container-title":"HP:0010194","author":[{"family":"absent\/underdeveloped middle bones of toe"},{"family":"absent\/small middle bones of toe"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010194","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the middle phalanges of the toes"},{"container-title":"HP:0010195","author":[{"family":"broad middle bones of the toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010195","type":"entry-dictionary","title":"Broad middle phalanges of the toes"},{"container-title":"HP:0010196","author":[{"family":"bullet-shaped middle phalanges of the toes"},{"family":"bullet-shaped middle bones of the toes"},{"family":"An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010196","type":"entry-dictionary","title":"Bullet-shaped middle toe phalanx"},{"container-title":"HP:0010197","author":[{"family":"curved middle phalanges of the toes"},{"family":"curved middle bones of the toes"},{"family":"A deviation from the normal straight form of one or more middle toe phalanges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010197","type":"entry-dictionary","title":"Curved middle toe phalanx"},{"container-title":"HP:0010198","author":[{"family":"Osteolytic defects of the middle phalanges of the toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010198","type":"entry-dictionary","title":"Osteolytic defects of the middle phalanges of the toes"},{"container-title":"HP:0010199","author":[{"family":"uneven increase in bone density in middle toe bone"},{"family":"patchy sclerosis of the middle phalanges of the toes"},{"family":"Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010199","type":"entry-dictionary","title":"Patchy sclerosis of middle toe phalanx"},{"container-title":"HP:0010200","author":[{"family":"fused middle bones of toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010200","type":"entry-dictionary","title":"Symphalangism affecting the middle phalanges of the toes"},{"container-title":"HP:0010201","author":[{"family":"triangular shaped middle bones of toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010201","type":"entry-dictionary","title":"Triangular shaped middle phalanges of the toes"},{"container-title":"HP:0010202","author":[{"family":"partial\/complete duplication of the middle phalanges of the toes"},{"family":"partial\/complete duplication of the middle bones of the toes"},{"family":"Partial or complete duplication of a middle phalanx of toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010202","type":"entry-dictionary","title":"Duplication of middle phalanx of toe"},{"container-title":"HP:0010203","author":[{"family":"aplasia\/hypoplasia of the proximal phalanges of the toes"},{"family":"absent\/underdeveloped innermost toe bones"},{"family":"absent\/small innermost toe bones"},{"family":"Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010203","type":"entry-dictionary","title":"Aplasia\/hypoplasia of proximal toe phalanx"},{"container-title":"HP:0010204","author":[{"family":"broad innermost toe bone"},{"family":"An increase in width of one ore more proximal toe phalanges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010204","type":"entry-dictionary","title":"Broad proximal phalanx of toe"},{"container-title":"HP:0010205","author":[{"family":"bullet-shaped proximal phalanges of the toes"},{"family":"bullet-shaped proximal phalanges of toe"},{"family":"bullet-shaped innermost toe bone"},{"family":"An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010205","type":"entry-dictionary","title":"Bullet-shaped proximal toe phalanx"},{"container-title":"HP:0010206","author":[{"family":"curved proximal phalanges of the toes"},{"family":"curved innermost toe bones"},{"family":"A deviation from the normal straight shape of a proximal phalanx of one or more toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010206","type":"entry-dictionary","title":"Curved proximal toe phalanx"},{"container-title":"HP:0010207","author":[{"family":"osteolytic defects of the proximal phalanges of the toes"},{"family":"Dissolution or degeneration of bone tissue of the proximal toe phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010207","type":"entry-dictionary","title":"Osteolytic defect of the proximal toe phalanx"},{"container-title":"HP:0010208","author":[{"family":"uneven increase in bone density in innermost toe bone"},{"family":"patchy sclerosis of the proximal phalanges of the toes"},{"family":"Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010208","type":"entry-dictionary","title":"Patchy sclerosis of proximal toe phalanx"},{"container-title":"HP:0010209","author":[{"family":"fused innermost bones of toes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010209","type":"entry-dictionary","title":"Symphalangism affecting the proximal phalanges of the toes"},{"container-title":"HP:0010210","author":[{"family":"triangular shaped innermost toe bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010210","type":"entry-dictionary","title":"Triangular shaped proximal phalanges of the toes"},{"container-title":"HP:0010211","author":[{"family":"duplication of innermost toe bones"},{"family":"partial\/complete duplication of the proximal phalanges of the toes"},{"family":"Partial\/complete duplication of a proximal phalanx of toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010211","type":"entry-dictionary","title":"Duplication of proximal phalanx of toe"},{"container-title":"HP:0010212","author":[{"family":"joint contracture of the hallux"},{"family":"joint contracture of the big toe"},{"family":"One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010212","type":"entry-dictionary","title":"Flexion contracture of the hallux"},{"container-title":"HP:0010213","author":[{"family":"Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010213","type":"entry-dictionary","title":"Contracture of the tarsometatarsal joint of the hallux"},{"container-title":"HP:0010214","author":[{"family":"The interphalangeal joint of the big toe cannot be straightened actively or passively."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010214","type":"entry-dictionary","title":"Contracture of the interphalangeal joint of the hallux"},{"container-title":"HP:0010215","author":[{"family":"The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010215","type":"entry-dictionary","title":"Contractures of the metatarsophalangeal joint of the hallux"},{"container-title":"HP:0010219","author":[{"family":"A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010219","type":"entry-dictionary","title":"Structural foot deformity"},{"container-title":"HP:0010220","author":[{"family":"abnormality of the end part of the 2nd long bone of hand"},{"family":"Any abnormality of the epiphysis of the second metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010220","type":"entry-dictionary","title":"Abnormality of the epiphysis of the 2nd metacarpal"},{"container-title":"HP:0010221","author":[{"family":"The normal epiphysis of the second metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010221","type":"entry-dictionary","title":"Pseudoepiphysis of the 2nd metacarpal"},{"container-title":"HP:0010222","author":[{"family":"abnormality of the end part of the 3rd long bone of hand"},{"family":"Any abnormality of the epiphysis of the third metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010222","type":"entry-dictionary","title":"Abnormality of the epiphysis of the 3rd metacarpal"},{"container-title":"HP:0010223","author":[{"family":"The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010223","type":"entry-dictionary","title":"Pseudoepiphysis of the 3rd metacarpal"},{"container-title":"HP:0010224","author":[{"family":"abnormality of the end part of the 4th long bone of hand"},{"family":"Any abnormality of the epiphysis of the 4th metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010224","type":"entry-dictionary","title":"Abnormality of the epiphysis of the 4th metacarpal"},{"container-title":"HP:0010225","author":[{"family":"The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010225","type":"entry-dictionary","title":"Pseudoepiphysis of the 4th metacarpal"},{"container-title":"HP:0010226","author":[{"family":"abnormality of the end part of the long bone of pinkie finger"},{"family":"abnormality of the end part of the long bone of pinky finger"},{"family":"abnormality of the end part of the long bone of little finger"},{"family":"Any abnormality of the epiphysis of the fifth metacarpal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010226","type":"entry-dictionary","title":"Abnormality of the epiphysis of the 5th metacarpal"},{"container-title":"HP:0010227","author":[{"family":"The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010227","type":"entry-dictionary","title":"Pseudoepiphysis of the 5th metacarpal"},{"container-title":"HP:0010228","author":[{"family":"absent end part of fingers"},{"family":"absent epiphyses of the fingers"},{"family":"Absence of one or more epiphyses of the phalanges fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010228","type":"entry-dictionary","title":"Absent epiphyses of the phalanges of the hand"},{"container-title":"HP:0010229","author":[{"family":"bracket shaped end part of finger bones"},{"family":"bracket epiphyses of the fingers"},{"family":"Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010229","type":"entry-dictionary","title":"Bracket epiphyses of the phalanges of the hand"},{"container-title":"HP:0010230","author":[{"family":"coned epiphyses of hands"},{"family":"phalangeal cone-shaped epiphyses"},{"family":"conical phalangeal epiphyses"},{"family":"cone-shaped epiphyses of hand"},{"family":"cone-shaped end part of finger bones"},{"family":"cone-shaped epiphyses of phalanges"},{"family":"cone-shaped epiphyses of the fingers"},{"family":"cone-shaped phalangeal epiphyses"},{"family":"A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010230","type":"entry-dictionary","title":"Cone-shaped epiphyses of the phalanges of the hand"},{"container-title":"HP:0010231","author":[{"family":"enlarged epiphyses of the fingers"},{"family":"enlarged end part of finger bones"},{"family":"enlarged phalangeal epiphyses"},{"family":"Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010231","type":"entry-dictionary","title":"Enlarged epiphyses of the phalanges of the hand"},{"container-title":"HP:0010232","author":[{"family":"fragmentation of the epiphyses of the fingers"},{"family":"fragmentation of end part of finger bones"},{"family":"Fragmented appearance of the epiphyses of the phalanges of the fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010232","type":"entry-dictionary","title":"Fragmentation of the epiphyses of the phalanges of the hand"},{"container-title":"HP:0010233","author":[{"family":"irregular epiphyses of the fingers"},{"family":"irregular end part of finger bones"},{"family":"Irregular radiographic opacity of the epiphyses of the phalanges of the fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010233","type":"entry-dictionary","title":"Irregular epiphyses of the phalanges of the hand"},{"container-title":"HP:0010234","author":[{"family":"ivory epiphyses of the fingers"},{"family":"sclerotic ivory phalangeal epiphyses"},{"family":"increased bone density of end part of the hand bones"},{"family":"Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010234","type":"entry-dictionary","title":"Ivory epiphyses 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abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010237","type":"entry-dictionary","title":"Epiphyseal stippling of finger phalanges"},{"container-title":"HP:0010238","author":[{"family":"delta-shaped epiphyses of the fingers"},{"family":"triangular epiphyses of the fingers"},{"family":"triangular end part of finger bones"},{"family":"A triangular appearance of the epiphyses of the phalanges of the fingers of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010238","type":"entry-dictionary","title":"Triangular epiphyses of the phalanges of the hand"},{"container-title":"HP:0010239","author":[{"family":"missing middle phalanges"},{"family":"absent middle phalanges"},{"family":"absent middle bones of hand"},{"family":"Absence of one or more middle phalanx of a finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010239","type":"entry-dictionary","title":"Aplasia of the middle phalanx of the hand"},{"container-title":"HP:0010241","author":[{"family":"shortening in proximal phalanges"},{"family":"hypoplasia of the proximal phalanges of the hand"},{"family":"short proximal phalanx of finger"},{"family":"short innermost finger bones"},{"family":"short proximal phalanges"},{"family":"Congenital hypoplasia of one or more proximal phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010241","type":"entry-dictionary","title":"Short proximal phalanx of finger"},{"container-title":"HP:0010242","author":[{"family":"absent proximal phalanges"},{"family":"absent innermost bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010242","type":"entry-dictionary","title":"Aplasia of the proximal phalanges of the hand"},{"container-title":"HP:0010243","author":[{"family":"abnormality of the end part of the outermost bone of finger"},{"family":"Any anomal of distal epiphysis of phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010243","type":"entry-dictionary","title":"Abnormality of the epiphyses of the distal phalanx of finger"},{"container-title":"HP:0010244","author":[{"family":"abnormality of the end part of the middle hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010244","type":"entry-dictionary","title":"Abnormality of the epiphyses of the middle phalanges of the hand"},{"container-title":"HP:0010245","author":[{"family":"abnormality of the end part of the innermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010245","type":"entry-dictionary","title":"Abnormality of the epiphyses of the proximal phalanges of the hand"},{"container-title":"HP:0010246","author":[{"family":"absent end part of the outermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010246","type":"entry-dictionary","title":"Absent epiphyses of the distal phalanges of the hand"},{"container-title":"HP:0010247","author":[{"family":"bracket shaped end part of the outermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010247","type":"entry-dictionary","title":"Bracket epiphyses of the distal phalanges of the hand"},{"container-title":"HP:0010248","author":[{"family":"cone-shaped end part of the outermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010248","type":"entry-dictionary","title":"Cone-shaped epiphyses of the distal phalanges of the hand"},{"container-title":"HP:0010249","author":[{"family":"enlarged end part of the outermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010249","type":"entry-dictionary","title":"Enlarged epiphyses of the distal phalanges of the hand"},{"container-title":"HP:0010250","author":[{"family":"fragmentation of the end part of the outermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010250","type":"entry-dictionary","title":"Fragmentation of the epiphyses of the distal phalanges of the hand"},{"container-title":"HP:0010251","author":[{"family":"irregular end part of the outermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010251","type":"entry-dictionary","title":"Irregular epiphyses of the distal phalanges of the hand"},{"container-title":"HP:0010252","author":[{"family":"increased bone density of end part of the outermost hand bones"},{"family":"eburnated epiphyses of distal phalanges"},{"family":"Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010252","type":"entry-dictionary","title":"Ivory epiphyses of the distal phalanges of the hand"},{"container-title":"HP:0010253","author":[{"family":"Pseudoepiphyses of the distal phalanges of the hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010253","type":"entry-dictionary","title":"Pseudoepiphyses of the distal phalanges of the hand"},{"container-title":"HP:0010254","author":[{"family":"small end part of the outermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010254","type":"entry-dictionary","title":"Small epiphyses of the distal phalanges of the hand"},{"container-title":"HP:0010255","author":[{"family":"speckled calcifications in the end part of the outermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010255","type":"entry-dictionary","title":"Stippling of the epiphyses of the distal phalanges of the hand"},{"container-title":"HP:0010256","author":[{"family":"triangular end part of the outermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010256","type":"entry-dictionary","title":"Triangular epiphyses of the distal phalanges of the hand"},{"container-title":"HP:0010257","author":[{"family":"absent end part of the middle hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010257","type":"entry-dictionary","title":"Absent epiphyses of the middle phalanges of the hand"},{"container-title":"HP:0010258","author":[{"family":"bracket shaped end part of the middle hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010258","type":"entry-dictionary","title":"Bracket epiphyses of the middle phalanges of the hand"},{"container-title":"HP:0010259","author":[{"family":"cone-shaped epiphyses of middle phalanges"},{"family":"cone-shaped end part of the middle hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010259","type":"entry-dictionary","title":"Cone-shaped epiphyses of the middle phalanges of the hand"},{"container-title":"HP:0010260","author":[{"family":"enlarged end part of the middle hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010260","type":"entry-dictionary","title":"Enlarged epiphyses of the middle phalanges of the hand"},{"container-title":"HP:0010261","author":[{"family":"fragmentation of the end part of the middle hand bones"},{"family":"Fragmented appearance of the epiphyses of the middle phalanges of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010261","type":"entry-dictionary","title":"Fragmentation of the epiphyses of the middle phalanges of the hand"},{"container-title":"HP:0010262","author":[{"family":"irregular end part of middle hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010262","type":"entry-dictionary","title":"Irregular epiphyses of the middle phalanges of the hand"},{"container-title":"HP:0010263","author":[{"family":"increased bone density of end part of the middle hand bones"},{"family":"Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010263","type":"entry-dictionary","title":"Ivory epiphyses of the middle phalanges of the hand"},{"container-title":"HP:0010264","author":[{"family":"Pseudoepiphyses of the middle phalanges of the hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010264","type":"entry-dictionary","title":"Pseudoepiphyses of the middle phalanges of the hand"},{"container-title":"HP:0010265","author":[{"family":"small end part of the middle hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010265","type":"entry-dictionary","title":"Small epiphyses of the middle phalanges of the hand"},{"container-title":"HP:0010266","author":[{"family":"speckled calcifications in the end part of the middle hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010266","type":"entry-dictionary","title":"Stippling of the epiphyses of the middle phalanges of the hand"},{"container-title":"HP:0010267","author":[{"family":"triangular end part of the middle hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010267","type":"entry-dictionary","title":"Triangular epiphyses of the middle phalanges of the hand"},{"container-title":"HP:0010268","author":[{"family":"absent end part of the innermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010268","type":"entry-dictionary","title":"Absent epiphyses of the proximal phalanges of the hand"},{"container-title":"HP:0010269","author":[{"family":"bracket shaped end part of the innermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010269","type":"entry-dictionary","title":"Bracket epiphyses of the proximal phalanges of the hand"},{"container-title":"HP:0010270","author":[{"family":"cone-shaped end part of the innermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010270","type":"entry-dictionary","title":"Cone-shaped epiphyses of the proximal phalanges of the hand"},{"container-title":"HP:0010271","author":[{"family":"enlarged end part of the innermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010271","type":"entry-dictionary","title":"Enlarged epiphyses of the proximal phalanges of the hand"},{"container-title":"HP:0010272","author":[{"family":"fragmentation of the end part of the innermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010272","type":"entry-dictionary","title":"Fragmentation of the epiphyses of the proximal phalanges of the hand"},{"container-title":"HP:0010273","author":[{"family":"irregular end part of the innermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010273","type":"entry-dictionary","title":"Irregular epiphyses of the proximal phalanges of the hand"},{"container-title":"HP:0010274","author":[{"family":"increased bone density of end part of the innermost hand bones"},{"family":"Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010274","type":"entry-dictionary","title":"Ivory epiphyses of the proximal phalanges of the hand"},{"container-title":"HP:0010275","author":[{"family":"Pseudoepiphyses of the proximal phalanges of the hand"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010275","type":"entry-dictionary","title":"Pseudoepiphyses of the proximal phalanges of the hand"},{"container-title":"HP:0010276","author":[{"family":"small end part of the innermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010276","type":"entry-dictionary","title":"Small epiphyses of the proximal phalanges of the hand"},{"container-title":"HP:0010277","author":[{"family":"speckled calcifications in the end part of the innermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010277","type":"entry-dictionary","title":"Stippling of the epiphyses of the proximal phalanges of the hand"},{"container-title":"HP:0010278","author":[{"family":"triangular end part of the innermost hand bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010278","type":"entry-dictionary","title":"Triangular epiphyses of the proximal phalanges of the hand"},{"container-title":"HP:0010280","author":[{"family":"gingivostomatitis"},{"family":"inflammation of the mouth"},{"family":"Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010280","type":"entry-dictionary","title":"Stomatitis"},{"container-title":"HP:0010281","author":[{"family":"lower labial cleft"},{"family":"cleft lower lip"},{"family":"cleft of the lower lip"},{"family":"A gap in the lower lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010281","type":"entry-dictionary","title":"Cleft lower lip"},{"container-title":"HP:0010282","author":[{"family":"thin red part of the lower lip"},{"family":"thin vermilion border of lower lip"},{"family":"decreased volume of lower lip vermilion"},{"family":"decreased height of lower lip vermilion"},{"family":"thin lower lip"},{"family":"Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010282","type":"entry-dictionary","title":"Thin lower lip vermilion"},{"container-title":"HP:0010284","author":[{"family":"dark color of gums"},{"family":"hyperpigmentation of oral mucosa"},{"family":"gingival hyperpigmentation"},{"family":"oral mucosa melanin pigmentation"},{"family":"oral racial pigmentation"},{"family":"gingival melanin pigmentation"},{"family":"pigmented gums"},{"family":"Increased pigmentation, either focal or generalized, of the mucosa of the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010284","type":"entry-dictionary","title":"Intra-oral hyperpigmentation"},{"container-title":"HP:0010285","author":[{"family":"oral fibrous bands"},{"family":"synechiae of the mouth"},{"family":"Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010285","type":"entry-dictionary","title":"Oral synechia"},{"container-title":"HP:0010286","author":[{"family":"salivary gland disease"},{"family":"abnormality of the salivary glands"},{"family":"Any abnormality of the salivary glands, the exocrine glands that produce saliva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010286","type":"entry-dictionary","title":"Abnormal salivary gland morphology"},{"container-title":"HP:0010287","author":[{"family":"abnormality of the submaxillary glands"},{"family":"Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010287","type":"entry-dictionary","title":"Abnormality of the submandibular glands"},{"container-title":"HP:0010288","author":[{"family":"Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010288","type":"entry-dictionary","title":"Abnormality of the sublingual glands"},{"container-title":"HP:0010289","author":[{"family":"cleft of alveolar process"},{"family":"notch of alveolar ridge"},{"family":"alveolar ridge cleft"},{"family":"notch of alveolar process"},{"family":"cleft of gum ridge"},{"family":"notch of gum ridge"},{"family":"A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010289","type":"entry-dictionary","title":"Cleft of alveolar ridge of maxilla"},{"container-title":"HP:0010290","author":[{"family":"decreased length of hard palate"},{"family":"short palate"},{"family":"hypoplastic palate"},{"family":"Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010290","type":"entry-dictionary","title":"Short hard palate"},{"container-title":"HP:0010291","author":[{"family":"prominent palatine folds"},{"family":"large lateral palatal folds"},{"family":"prominent lateral palatal folds"},{"family":"large lateral palatal ridges"},{"family":"prominent lateral palatal 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or fork."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010297","type":"entry-dictionary","title":"Bifid tongue"},{"container-title":"HP:0010298","author":[{"family":"smooth tongue"},{"family":"atrophy of tongue surface"},{"family":"smooth dorsum of tongue"},{"family":"atrophy of dorsum of tongue"},{"family":"smooth lingual surface"},{"family":"smooth surface of tongue"},{"family":"atrophy of lingual surface"},{"family":"Glossy appearance of the entire tongue surface."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010298","type":"entry-dictionary","title":"Smooth tongue"},{"container-title":"HP:0010299","author":[{"family":"abnormal dentin"},{"family":"abnormality of dentine"},{"family":"Any abnormality of dentin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010299","type":"entry-dictionary","title":"Abnormality of dentin"},{"container-title":"HP:0010300","author":[{"family":"An abnormally low-pitched voice."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010300","type":"entry-dictionary","title":"Abnormally low-pitched voice"},{"container-title":"HP:0010301","author":[{"family":"incomplete closure of the vertebral arch"},{"family":"A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010301","type":"entry-dictionary","title":"Spinal dysraphism"},{"container-title":"HP:0010302","author":[{"family":"spinal cord tumor"},{"family":"tumor of the spinal cord"},{"family":"spinal tumors"},{"family":"A neoplasm affecting the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010302","type":"entry-dictionary","title":"Spinal cord tumor"},{"container-title":"HP:0010303","author":[{"family":"Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010303","type":"entry-dictionary","title":"Abnormality of the spinal meninges"},{"container-title":"HP:0010304","author":[{"family":"An outpouching of the spinal meninges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010304","type":"entry-dictionary","title":"Spinal meningeal diverticulum"},{"container-title":"HP:0010305","author":[{"family":"absent sacrum"},{"family":"sacrococcygeal agenesis"},{"family":"Absence (aplasia) of the sacrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010305","type":"entry-dictionary","title":"Absence of the sacrum"},{"container-title":"HP:0010306","author":[{"family":"Reduced inferior to superior extent of the thorax."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010306","type":"entry-dictionary","title":"Short thorax"},{"container-title":"HP:0010307","author":[{"family":"noisy breathing"},{"family":"Stridor is a high pitched sound resulting from turbulent air flow in the upper 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In the literature this is sometimes refered to as Disorganisation-like Syndrome (OMIM223200)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010440","type":"entry-dictionary","title":"Ectopic accesory toe-like appendage"},{"container-title":"HP:0010441","author":[{"family":"In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. 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Might be associated with hip dysplasia on the affected side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010443","type":"entry-dictionary","title":"Bifid femur"},{"container-title":"HP:0010444","author":[{"family":"puolmonary valve insufficiency"},{"family":"pulmonary incompetence"},{"family":"The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010444","type":"entry-dictionary","title":"Pulmonary insufficiency"},{"container-title":"HP:0010445","author":[{"family":"atrial septal defect, primum type"},{"family":"primum atrioventricular canal defect"},{"family":"ostium primum atrial septal defect"},{"family":"septum primum defect"},{"family":"An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010445","type":"entry-dictionary","title":"Primum atrial septal defect"},{"container-title":"HP:0010446","author":[{"family":"A narrowing of the orifice of the tricuspid valve of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010446","type":"entry-dictionary","title":"Tricuspid stenosis"},{"container-title":"HP:0010447","author":[{"family":"fistula in ano"},{"family":"An abnormal connection between the epithelialised surface of the anal canal and the perianal skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010447","type":"entry-dictionary","title":"Anal fistula"},{"container-title":"HP:0010448","author":[{"family":"atresia of the large intestine"},{"family":"large intestinal atresia"},{"family":"A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010448","type":"entry-dictionary","title":"Colonic atresia"},{"container-title":"HP:0010450","author":[{"family":"narrowing of the esophagus"},{"family":"An abnormal narrowing of the lumen of the esophagus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010450","type":"entry-dictionary","title":"Esophageal stenosis"},{"container-title":"HP:0010451","author":[{"family":"absent\/small spleen"},{"family":"absent\/underdeveloped spleen"},{"family":"Absence or underdevelopment of the spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010451","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the spleen"},{"container-title":"HP:0010452","author":[{"family":"ectopic spleen"},{"family":"abnormal spleen location"},{"family":"An abnormal (non-anatomic) location of the spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010452","type":"entry-dictionary","title":"Ectopia of the spleen"},{"container-title":"HP:0010453","author":[{"family":"asymmetric pelvis"},{"family":"pelvic asymmetry"},{"family":"Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010453","type":"entry-dictionary","title":"Pelvic bone asymmetry"},{"container-title":"HP:0010454","author":[{"family":"The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010454","type":"entry-dictionary","title":"Acetabular spurs"},{"container-title":"HP:0010455","author":[{"family":"An exageration of the normal arched form of the acetabular roof such that it takes on a steep appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010455","type":"entry-dictionary","title":"Steep acetabular roof"},{"container-title":"HP:0010456","author":[{"family":"An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010456","type":"entry-dictionary","title":"Abnormality of the greater sacrosciatic notch"},{"container-title":"HP:0010457","author":[{"family":"Abnormally increased width of the greater sacrosciatic notch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010457","type":"entry-dictionary","title":"Widening of the sacrosciatic notch"},{"container-title":"HP:0010458","author":[{"family":"Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010458","type":"entry-dictionary","title":"Female pseudohermaphroditism"},{"container-title":"HP:0010459","author":[{"family":"testicular and ovarian tissue present"},{"family":"The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX\/XY mosaicism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010459","type":"entry-dictionary","title":"True hermaphroditism"},{"container-title":"HP:0010460","author":[{"family":"Abnormality of the female genital system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010460","type":"entry-dictionary","title":"Abnormality of the female genitalia"},{"container-title":"HP:0010461","author":[{"family":"abnormality of the male genitalia"},{"family":"abnormal male genitals"},{"family":"Abnormality of the male genital system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010461","type":"entry-dictionary","title":"Abnormality of the male genitalia"},{"container-title":"HP:0010462","author":[{"family":"absent\/underdeveloped ovary"},{"family":"absent\/small ovary"},{"family":"Aplasia or developmental hypoplasia of the ovary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010462","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the ovary"},{"container-title":"HP:0010463","author":[{"family":"absent ovary"},{"family":"aplasia of the ovaries"},{"family":"Aplasia, that is failure to develop, of the ovary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010463","type":"entry-dictionary","title":"Aplasia of the ovary"},{"container-title":"HP:0010464","author":[{"family":"A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010464","type":"entry-dictionary","title":"Streak ovary"},{"container-title":"HP:0010465","author":[{"family":"The onset of puberty before the age of 8 years in girls."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010465","type":"entry-dictionary","title":"Precocious puberty in females"},{"container-title":"HP:0010468","author":[{"family":"absent\/small testes"},{"family":"absent\/underdeveloped testes"},{"family":"Absence or underdevelopment of the testes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010468","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the testes"},{"container-title":"HP:0010469","author":[{"family":"absence of palpable testicules"},{"family":"absent testes"},{"family":"aplasia of the testes"},{"family":"Testis not palpable in the scrotum or inguinal canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010469","type":"entry-dictionary","title":"Absent testis"},{"container-title":"HP:0010470","author":[{"family":"polyorchidism"},{"family":"extra testes"},{"family":"The presence of more than two testes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010470","type":"entry-dictionary","title":"Supernumerary testes"},{"container-title":"HP:0010471","author":[{"family":"Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010471","type":"entry-dictionary","title":"Oligosacchariduria"},{"container-title":"HP:0010472","author":[{"family":"An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010472","type":"entry-dictionary","title":"Abnormality of the heme biosynthetic pathway"},{"container-title":"HP:0010473","author":[{"family":"Abnormally increased excretion of porphyrins in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010473","type":"entry-dictionary","title":"Porphyrinuria"},{"container-title":"HP:0010474","author":[{"family":"Buildups of minerals that form in the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010474","type":"entry-dictionary","title":"Bladder stones"},{"container-title":"HP:0010475","author":[{"family":"Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010475","type":"entry-dictionary","title":"Cloacal exstrophy"},{"container-title":"HP:0010476","author":[{"family":"absent\/small bladder"},{"family":"absent\/underdeveloped bladder"},{"family":"Absence or underdevelopment of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010476","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the bladder"},{"container-title":"HP:0010477","author":[{"family":"absent bladder"},{"family":"Aplasia (absence) of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010477","type":"entry-dictionary","title":"Aplasia of the bladder"},{"container-title":"HP:0010478","author":[{"family":"Abnormality of the urachus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010478","type":"entry-dictionary","title":"Abnormality of the urachus"},{"container-title":"HP:0010479","author":[{"family":"persistent urachus"},{"family":"Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010479","type":"entry-dictionary","title":"Patent urachus"},{"container-title":"HP:0010480","author":[{"family":"The presence of an abnormal connection between the urethra and another organ or the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010480","type":"entry-dictionary","title":"Urethral fistula"},{"container-title":"HP:0010481","author":[{"family":"The presence of an abnormal membrane obstructing the urethra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010481","type":"entry-dictionary","title":"Urethral valve"},{"container-title":"HP:0010482","author":[{"family":"Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010482","type":"entry-dictionary","title":"Acromelia of the upper limbs"},{"container-title":"HP:0010483","author":[{"family":"Amniotic constriction rings affecting the arms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010483","type":"entry-dictionary","title":"Amniotic constriction rings of arms"},{"container-title":"HP:0010484","author":[{"family":"increased size of upper limb"},{"family":"Abnormal increase in size of the upper limbs (due to an increase of the size of cells)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010484","type":"entry-dictionary","title":"Hypertrophy of the upper limb"},{"container-title":"HP:0010485","author":[{"family":"The ability of the elbow joint to move beyond its normal range of motion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010485","type":"entry-dictionary","title":"Hyperextensibility at elbow"},{"container-title":"HP:0010486","author":[{"family":"An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010486","type":"entry-dictionary","title":"Abnormality of the hypothenar eminence"},{"container-title":"HP:0010487","author":[{"family":"hypoplasia of the hypothenar eminence"},{"family":"hypothenar hypoplasia"},{"family":"Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010487","type":"entry-dictionary","title":"Small hypothenar eminence"},{"container-title":"HP:0010488","author":[{"family":"absent\/small palm crease"},{"family":"absent\/underdeveloped palm crease"},{"family":"Absence or underdevelopment of the palmar creases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010488","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the palmar creases"},{"container-title":"HP:0010489","author":[{"family":"absent palm lines"},{"family":"absence of the palmar creases"},{"family":"aplasia of the palmar creases"},{"family":"The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010489","type":"entry-dictionary","title":"Absent palmar crease"},{"container-title":"HP:0010490","author":[{"family":"abnormality of the palm lines"},{"family":"An abnormality of the creases of the skin of palm of hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010490","type":"entry-dictionary","title":"Abnormality of the palmar creases"},{"container-title":"HP:0010491","author":[{"family":"amniotic constriction rings of digits"},{"family":"A narrow segment of significantly reduced circumference of a digit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010491","type":"entry-dictionary","title":"Digital constriction ring"},{"container-title":"HP:0010492","author":[{"family":"osseous syndactyly of the fingers"},{"family":"Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are revered to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as \"Symphalangism\"."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010492","type":"entry-dictionary","title":"Osseous finger syndactyly"},{"container-title":"HP:0010493","author":[{"family":"increased length of metacarpals"},{"family":"elongated long bone of hand"},{"family":"An abnormally increased length of the metacarpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010493","type":"entry-dictionary","title":"Long metacarpals"},{"container-title":"HP:0010494","author":[{"family":"Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010494","type":"entry-dictionary","title":"Acromelia of the lower limbs"},{"container-title":"HP:0010495","author":[{"family":"Amniotic constriction rings affecting the legs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010495","type":"entry-dictionary","title":"Amniotic constriction rings of legs"},{"container-title":"HP:0010496","author":[{"family":"Abnormal increase in size of the lower limbs (due to an increase of the size of cells)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010496","type":"entry-dictionary","title":"Hypertrophy of the lower limb"},{"container-title":"HP:0010497","author":[{"family":"sympodia"},{"family":"A developmental defect in which the legs are fused together."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010497","type":"entry-dictionary","title":"Sirenomelia"},{"container-title":"HP:0010498","author":[{"family":"A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010498","type":"entry-dictionary","title":"Bipartite patella"},{"container-title":"HP:0010499","author":[{"family":"partial knee cap dislocation"},{"family":"subluxation of patella"},{"family":"The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010499","type":"entry-dictionary","title":"Patellar subluxation"},{"container-title":"HP:0010500","author":[{"family":"The ability of the knee joint to move beyond its normal range of motion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010500","type":"entry-dictionary","title":"Hyperextensibility of the knee"},{"container-title":"HP:0010501","author":[{"family":"limitation of knee mobility"},{"family":"limited knee movement"},{"family":"An abnormal limitation of knee joint mobility."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010501","type":"entry-dictionary","title":"Limitation of knee mobility"},{"container-title":"HP:0010502","author":[{"family":"bowed calf bone"},{"family":"A bending or abnormal curvature of the fibula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010502","type":"entry-dictionary","title":"Fibular bowing"},{"container-title":"HP:0010503","author":[{"family":"duplicated calf bone"},{"family":"Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010503","type":"entry-dictionary","title":"Fibular duplication"},{"container-title":"HP:0010504","author":[{"family":"increased length of shankbone"},{"family":"increased length of shinbone"},{"family":"An abnormal increase in the length of the tibia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010504","type":"entry-dictionary","title":"Increased length of the tibia"},{"container-title":"HP:0010505","author":[{"family":"An abnormal limitation of the mobility of the ankle joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010505","type":"entry-dictionary","title":"Limitation of movement at ankles"},{"container-title":"HP:0010506","author":[{"family":"abnormal prints on feet"},{"family":"abnormal dermatoglyphics on feet"},{"family":"An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010506","type":"entry-dictionary","title":"Abnormal plantar dermatoglyphics"},{"container-title":"HP:0010507","author":[{"family":"A difference in size or shape between the left and right foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010507","type":"entry-dictionary","title":"Foot asymmetry"},{"container-title":"HP:0010508","author":[{"family":"A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010508","type":"entry-dictionary","title":"Metatarsus valgus"},{"container-title":"HP:0010509","author":[{"family":"absent tarsals"},{"family":"absent ankle bone"},{"family":"Absence of the tarsal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010509","type":"entry-dictionary","title":"Aplasia of the tarsal bones"},{"container-title":"HP:0010510","author":[{"family":"An ability of the toe joints to move beyond their normal range of motion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010510","type":"entry-dictionary","title":"Hypermobility of toe joints"},{"container-title":"HP:0010511","author":[{"family":"increased length of toes"},{"family":"long toes"},{"family":"Digits that appear disproportionately long compared to the foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010511","type":"entry-dictionary","title":"Long toe"},{"container-title":"HP:0010512","author":[{"family":"Calcification within the adrenal glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010512","type":"entry-dictionary","title":"Adrenal calcification"},{"container-title":"HP:0010513","author":[{"family":"Deposition of calcium salts in the pituitary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010513","type":"entry-dictionary","title":"Pituitary calcification"},{"container-title":"HP:0010514","author":[{"family":"Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010514","type":"entry-dictionary","title":"Hyperpituitarism"},{"container-title":"HP:0010515","author":[{"family":"absent\/small thymus"},{"family":"absent\/underdeveloped thymus"},{"family":"thymic hypoplasia or aplasia"},{"family":"Absence or underdevelopment of the thymus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010515","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the thymus"},{"container-title":"HP:0010516","author":[{"family":"enlarged thymus"},{"family":"Enlargement of the thymus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010516","type":"entry-dictionary","title":"Thymus hyperplasia"},{"container-title":"HP:0010517","author":[{"family":"abnormal thymus position"},{"family":"The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010517","type":"entry-dictionary","title":"Ectopic thymus tissue"},{"container-title":"HP:0010518","author":[{"family":"thyroglossal duct cyst"},{"family":"An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010518","type":"entry-dictionary","title":"Thyroglossal cyst"},{"container-title":"HP:0010519","author":[{"family":"fetal hyperkinesia"},{"family":"An abnormal increase in quantity or strength of fetal movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010519","type":"entry-dictionary","title":"Increased fetal movement"},{"container-title":"HP:0010521","author":[{"family":"Gait apraxia affecting the ability to make walking movements with the legs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010521","type":"entry-dictionary","title":"Gait apraxia"},{"container-title":"HP:0010522","author":[{"family":"reading disability"},{"family":"A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010522","type":"entry-dictionary","title":"Dyslexia"},{"container-title":"HP:0010523","author":[{"family":"text blindness"},{"family":"word blindness"},{"family":"An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010523","type":"entry-dictionary","title":"Alexia"},{"container-title":"HP:0010524","author":[{"family":"Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010524","type":"entry-dictionary","title":"Agnosia"},{"container-title":"HP:0010525","author":[{"family":"An inability or difficulty differentiating among the fingers of either hand as well as the hands of others."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010525","type":"entry-dictionary","title":"Finger agnosia"},{"container-title":"HP:0010526","author":[{"family":"A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010526","type":"entry-dictionary","title":"Dysgraphia"},{"container-title":"HP:0010527","author":[{"family":"astereognosis"},{"family":"somatosensory agnosia"},{"family":"Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on based on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010527","type":"entry-dictionary","title":"Astereognosia"},{"container-title":"HP:0010528","author":[{"family":"face blindness"},{"family":"facial agnosia"},{"family":"Inability to recognize faces of familair persons."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010528","type":"entry-dictionary","title":"Prosopagnosia"},{"container-title":"HP:0010529","author":[{"family":"echophrasia"},{"family":"repeated speech"},{"family":"echologia"},{"family":"The tendency to repeat vocalizations made by another person."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010529","type":"entry-dictionary","title":"Echolalia"},{"container-title":"HP:0010530","author":[{"family":"Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010530","type":"entry-dictionary","title":"Palatal myoclonus"},{"container-title":"HP:0010531","author":[{"family":"Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010531","type":"entry-dictionary","title":"Spinal myoclonus"},{"container-title":"HP:0010532","author":[{"family":"Paroxysmal episodes of vertigo."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010532","type":"entry-dictionary","title":"Paroxysmal vertigo"},{"container-title":"HP:0010533","author":[{"family":"The combination of pendular nystagmus, head nodding, and torticollis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010533","type":"entry-dictionary","title":"Spasmus nutans"},{"container-title":"HP:0010534","author":[{"family":"A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010534","type":"entry-dictionary","title":"Transient global amnesia"},{"container-title":"HP:0010535","author":[{"family":"sleep apnoea"},{"family":"An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010535","type":"entry-dictionary","title":"Sleep apnea"},{"container-title":"HP:0010536","author":[{"family":"central sleep apnoea"},{"family":"Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010536","type":"entry-dictionary","title":"Central sleep apnea"},{"container-title":"HP:0010537","author":[{"family":"widened cranial sutures"},{"family":"persistent open cranial sutures"},{"family":"large cranial suture"},{"family":"broad cranial sutures"},{"family":"An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010537","type":"entry-dictionary","title":"Wide cranial sutures"},{"container-title":"HP:0010538","author":[{"family":"hypoplasia of pituitary fossa"},{"family":"hypoplasia of hypophseal fossa"},{"family":"hypoplasia of sella turcica"},{"family":"small pituitary fossa"},{"family":"small hypophyseal fossa"},{"family":"An abnormally small sella turcica."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010538","type":"entry-dictionary","title":"Small sella turcica"},{"container-title":"HP:0010539","author":[{"family":"thin skull bone"},{"family":"thin cranial bone"},{"family":"The presence of an abnormally thin calvarium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010539","type":"entry-dictionary","title":"Thin calvarium"},{"container-title":"HP:0010540","author":[{"family":"A degree of pneumatization that is increased compared to age-related norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010540","type":"entry-dictionary","title":"Advanced pneumatization of cranial sinuses"},{"container-title":"HP:0010541","author":[{"family":"scalp folds"},{"family":"thickened folds on top of scalp"},{"family":"cutis verticis gyrata"},{"family":"scalp furrows"},{"family":"furrows in thickened skin on top of scalp"},{"family":"thickening of the scalp"},{"family":"The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010541","type":"entry-dictionary","title":"Cutis gyrata of scalp"},{"container-title":"HP:0010542","author":[{"family":"Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010542","type":"entry-dictionary","title":"Vestibular nystagmus"},{"container-title":"HP:0010543","author":[{"family":"Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010543","type":"entry-dictionary","title":"Opsoclonus"},{"container-title":"HP:0010544","author":[{"family":"Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010544","type":"entry-dictionary","title":"Vertical nystagmus"},{"container-title":"HP:0010545","author":[{"family":"Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010545","type":"entry-dictionary","title":"Downbeat nystagmus"},{"container-title":"HP:0010546","author":[{"family":"twitching"},{"family":"Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010546","type":"entry-dictionary","title":"Muscle fibrillation"},{"container-title":"HP:0010547","author":[{"family":"A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010547","type":"entry-dictionary","title":"Muscle flaccidity"},{"container-title":"HP:0010548","author":[{"family":"transient swelling of muscle induced by percussion"},{"family":"A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010548","type":"entry-dictionary","title":"Percussion myotonia"},{"container-title":"HP:0010549","author":[{"family":"paralysis due to lesions of the principle motor tracts"},{"family":"Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010549","type":"entry-dictionary","title":"Weakness due to upper motor neuron dysfunction"},{"container-title":"HP:0010550","author":[{"family":"leg paralysis"},{"family":"Severe or complete weakness of both lower extremities with sparing of the upper extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010550","type":"entry-dictionary","title":"Paraplegia"},{"container-title":"HP:0010551","author":[{"family":"Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010551","type":"entry-dictionary","title":"Paraplegia\/paraparesis"},{"container-title":"HP:0010553","author":[{"family":"An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010553","type":"entry-dictionary","title":"Oculogyric crisis"},{"container-title":"HP:0010554","author":[{"family":"cutaneous syndactyly of fingers"},{"family":"cutaneous syndactyly of hands"},{"family":"webbed skin of fingers"},{"family":"webbed fingers"},{"family":"A soft tissue continuity in the A\/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A\/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010554","type":"entry-dictionary","title":"Cutaneous finger syndactyly"},{"container-title":"HP:0010557","author":[{"family":"A finger resting on the dorsal surface of an adjacent digit when the hand is at rest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010557","type":"entry-dictionary","title":"Overlapping fingers"},{"container-title":"HP:0010558","author":[{"family":"An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010558","type":"entry-dictionary","title":"Abnormality of the clivus"},{"container-title":"HP:0010559","author":[{"family":"An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010559","type":"entry-dictionary","title":"Vertical clivus"},{"container-title":"HP:0010560","author":[{"family":"wavy collarbone"},{"family":"wavy clavicles"},{"family":"An abnormally wavy surface or edge of the clavicles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010560","type":"entry-dictionary","title":"Undulate clavicles"},{"container-title":"HP:0010561","author":[{"family":"wavy ribs"},{"family":"An abnormally wavy surface or edge of the ribs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010561","type":"entry-dictionary","title":"Undulate ribs"},{"container-title":"HP:0010562","author":[{"family":"Keloids"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010562","type":"entry-dictionary","title":"Keloids"},{"container-title":"HP:0010564","author":[{"family":"A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010564","type":"entry-dictionary","title":"Bifid epiglottis"},{"container-title":"HP:0010565","author":[{"family":"This term applies if the Epiglottis is absent or hypoplastic."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010565","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the Epiglottis"},{"container-title":"HP:0010566","author":[{"family":"A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010566","type":"entry-dictionary","title":"Hamartoma"},{"container-title":"HP:0010567","author":[{"family":"y-shaped long bone of foot"},{"family":"Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010567","type":"entry-dictionary","title":"Y-shaped metatarsals"},{"container-title":"HP:0010568","author":[{"family":"A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010568","type":"entry-dictionary","title":"Hamartoma of the eye"},{"container-title":"HP:0010569","author":[{"family":"elevated levels of cholesta-5,7-dien-3beta-ol"},{"family":"Elevated 7-dehydrocholesterol levels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010569","type":"entry-dictionary","title":"Elevated 7-dehydrocholesterol"},{"container-title":"HP:0010570","author":[{"family":"low maternal serum alpha-fetoprotein"},{"family":"An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010570","type":"entry-dictionary","title":"Low maternal serum alpha-fetoprotein"},{"container-title":"HP:0010571","author":[{"family":"elevated levels of phytanic acid"},{"family":"An abnormal elevation of phytanic acid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010571","type":"entry-dictionary","title":"Elevated levels of phytanic acid"},{"container-title":"HP:0010574","author":[{"family":"abnormality of the proximal femoral epiphysis"},{"family":"abnormality of the end part of the innermost thighbone"},{"family":"Any abnormality of the proximal epiphysis of the femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010574","type":"entry-dictionary","title":"Abnormality of the epiphysis of the femoral head"},{"container-title":"HP:0010575","author":[{"family":"dysplastic femoral head"},{"family":"abnormality of femoral head development"},{"family":"The presence of developmental dysplasia of the femoral head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010575","type":"entry-dictionary","title":"Dysplasia of the femoral head"},{"container-title":"HP:0010576","author":[{"family":"cerebral cystic malformation"},{"family":"A cystic lesion originating within the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010576","type":"entry-dictionary","title":"Intracranial cystic lesion"},{"container-title":"HP:0010577","author":[{"family":"absent end part of bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010577","type":"entry-dictionary","title":"Absent epiphyses"},{"container-title":"HP:0010578","author":[{"family":"bracket shaped end part of long bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010578","type":"entry-dictionary","title":"Bracket epiphyses"},{"container-title":"HP:0010579","author":[{"family":"cone-shaped end part of bone"},{"family":"cone-shaped epiphyses"},{"family":"Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010579","type":"entry-dictionary","title":"Cone-shaped epiphysis"},{"container-title":"HP:0010580","author":[{"family":"large epiphyses"},{"family":"widened, distorted epiphyses"},{"family":"large end part of bone"},{"family":"Increased size of epiphyses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010580","type":"entry-dictionary","title":"Enlarged epiphyses"},{"container-title":"HP:0010582","author":[{"family":"irregular end part of long bone"},{"family":"An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010582","type":"entry-dictionary","title":"Irregular epiphyses"},{"container-title":"HP:0010583","author":[{"family":"epiphyseal sclerosis"},{"family":"increased bone density in end part of bone"},{"family":"Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010583","type":"entry-dictionary","title":"Ivory epiphyses"},{"container-title":"HP:0010584","author":[{"family":"Pseudoepiphyses"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010584","type":"entry-dictionary","title":"Pseudoepiphyses"},{"container-title":"HP:0010585","author":[{"family":"small end part of bone"},{"family":"Reduction in the size or volume of epiphyses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010585","type":"entry-dictionary","title":"Small epiphyses"},{"container-title":"HP:0010587","author":[{"family":"triangular end part of bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010587","type":"entry-dictionary","title":"Triangular epiphyses"},{"container-title":"HP:0010588","author":[{"family":"premature closure of epiphyses"},{"family":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010588","type":"entry-dictionary","title":"Premature epimetaphyseal fusion"},{"container-title":"HP:0010590","author":[{"family":"abnormality of the end part of the outermost thighbone"},{"family":"Any abnormality of the distal epiphysis of the femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010590","type":"entry-dictionary","title":"Abnormality of the distal femoral epiphysis"},{"container-title":"HP:0010591","author":[{"family":"abnormality of the end part of innermost shinbone"},{"family":"abnormality of the end part of innermost shankbone"},{"family":"Any abnormality of the proximal epiphysis of the tibia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010591","type":"entry-dictionary","title":"Abnormality of the proximal tibial epiphysis"},{"container-title":"HP:0010592","author":[{"family":"abnormality of the end part of outermost shinbone"},{"family":"abnormality of the end part of outermost shankbone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010592","type":"entry-dictionary","title":"Abnormality of the distal tibial epiphysis"},{"container-title":"HP:0010593","author":[{"family":"abnormality of the end part of the calf bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010593","type":"entry-dictionary","title":"Abnormality of fibular epiphyses"},{"container-title":"HP:0010594","author":[{"family":"abnormality of the innermost end part of calf bone"},{"family":"Any abnormality of the proximal epiphysis of the fibula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010594","type":"entry-dictionary","title":"Abnormality of the proximal fibular epiphysis"},{"container-title":"HP:0010595","author":[{"family":"abnormality of the outermost end part of calf bone"},{"family":"Any abnormality of the distal epiphysis of the fibula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010595","type":"entry-dictionary","title":"Abnormality of the distal fibular epiphysis"},{"container-title":"HP:0010596","author":[{"family":"Any abnormality of the proximal epiphysis of the radius."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010596","type":"entry-dictionary","title":"Abnormality of the proximal radial epiphysis"},{"container-title":"HP:0010597","author":[{"family":"Any abnormality of the distal epiphysis of the radius."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010597","type":"entry-dictionary","title":"Abnormality of the distal radial epiphysis"},{"container-title":"HP:0010598","author":[{"family":"abnormality of the end part of the innermost long bone in upper arm"},{"family":"Any abnormality of the proximal epiphysis of the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010598","type":"entry-dictionary","title":"Abnormality of the proximal humeral epiphysis"},{"container-title":"HP:0010599","author":[{"family":"abnormality of the end part of the outermost long bone in upper arm"},{"family":"Any abnormality of the distal epiphysis of the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010599","type":"entry-dictionary","title":"Abnormality of the distal humeral epiphysis"},{"container-title":"HP:0010600","author":[{"family":"Any abnormality of the distal epiphysis of the ulna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010600","type":"entry-dictionary","title":"Abnormality of the distal ulnar epiphysis"},{"container-title":"HP:0010601","author":[{"family":"Any abnormality of the proximal epiphysis of the ulna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010601","type":"entry-dictionary","title":"Abnormality of the proximal ulnar epiphysis"},{"container-title":"HP:0010602","author":[{"family":"type ii muscle fiber predominance"},{"family":"An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010602","type":"entry-dictionary","title":"Type 2 muscle fiber predominance"},{"container-title":"HP:0010603","author":[{"family":"keratocystic odontogenic tumor"},{"family":"keratocysts of the jaw"},{"family":"A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010603","type":"entry-dictionary","title":"Odontogenic keratocysts of the jaw"},{"container-title":"HP:0010604","author":[{"family":"eyelid bump"},{"family":"cyst of the eyelid"},{"family":"eyelid mass"},{"family":"lesion of the eyelid"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010604","type":"entry-dictionary","title":"Cyst of the eyelid"},{"container-title":"HP:0010605","author":[{"family":"meibomian gland lipogranuloma"},{"family":"A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010605","type":"entry-dictionary","title":"Chalazion"},{"container-title":"HP:0010606","author":[{"family":"stye of eyelid"},{"family":"red bump on eyelid"},{"family":"An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010606","type":"entry-dictionary","title":"Hordeolum"},{"container-title":"HP:0010607","author":[{"family":"Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010607","type":"entry-dictionary","title":"Hordeolum externum"},{"container-title":"HP:0010608","author":[{"family":"stye of inner eyelid"},{"family":"red bump on inner eyelid"},{"family":"Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010608","type":"entry-dictionary","title":"Hordeolum internum"},{"container-title":"HP:0010609","author":[{"family":"acrochorda"},{"family":"Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010609","type":"entry-dictionary","title":"Skin tags"},{"container-title":"HP:0010610","author":[{"family":"Palmar pits"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010610","type":"entry-dictionary","title":"Palmar pits"},{"container-title":"HP:0010612","author":[{"family":"The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010612","type":"entry-dictionary","title":"Plantar pits"},{"container-title":"HP:0010614","author":[{"family":"Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \"fibroblastic\" or \"fibromatous\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010614","type":"entry-dictionary","title":"Fibroma"},{"container-title":"HP:0010615","author":[{"family":"Angiofibroma consist of many often dilated vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010615","type":"entry-dictionary","title":"Angiofibromas"},{"container-title":"HP:0010616","author":[{"family":"The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010616","type":"entry-dictionary","title":"Lung fibroma"},{"container-title":"HP:0010617","author":[{"family":"A fibroma of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010617","type":"entry-dictionary","title":"Cardiac fibroma"},{"container-title":"HP:0010618","author":[{"family":"The presence of a fibroma of the ovary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010618","type":"entry-dictionary","title":"Ovarian fibroma"},{"container-title":"HP:0010619","author":[{"family":"breast fibroadenomas"},{"family":"A benign biphasic tumor of the breast with epithelial and stromal components."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010619","type":"entry-dictionary","title":"Fibroadenoma of the breast"},{"container-title":"HP:0010620","author":[{"family":"malar hyperplasia"},{"family":"malar excess"},{"family":"hyperplasia of malar bones"},{"family":"prominent malar region"},{"family":"cheekbone prominence"},{"family":"Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010620","type":"entry-dictionary","title":"Malar prominence"},{"container-title":"HP:0010621","author":[{"family":"webbed skin of toes"},{"family":"cutaneous syndactyly of feet"},{"family":"soft tissue syndactyly of toes"},{"family":"A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A\/P axis between two digits of the foot that does not meet the prior objective criteria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010621","type":"entry-dictionary","title":"Cutaneous syndactyly of toes"},{"container-title":"HP:0010622","author":[{"family":"neoplasia of the skeletal system"},{"family":"skeletal tumor"},{"family":"bone neoplasm"},{"family":"A tumor (abnormal growth of tissue) of the skeleton."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010622","type":"entry-dictionary","title":"Neoplasm of the skeletal system"},{"container-title":"HP:0010624","author":[{"family":"absent\/small toenails"},{"family":"absent\/underdeveloped toenails"},{"family":"aplastic\/hypoplastic toenails"},{"family":"hypoplastic-absent toenails"},{"family":"Absence or underdevelopment of the toenail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010624","type":"entry-dictionary","title":"Aplastic\/hypoplastic toenail"},{"container-title":"HP:0010625","author":[{"family":"adenohypophysis"},{"family":"Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010625","type":"entry-dictionary","title":"Anterior pituitary dysgenesis"},{"container-title":"HP:0010626","author":[{"family":"aplasia of the pituitary gland"},{"family":"absent pituitary gland"},{"family":"Absence of the pituitary gland resulting from a developmental defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010626","type":"entry-dictionary","title":"Anterior pituitary agenesis"},{"container-title":"HP:0010627","author":[{"family":"hypoplasia of the pituitary gland"},{"family":"underdeveloped pituitary gland"},{"family":"Underdevelopment of the anterior pituitary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010627","type":"entry-dictionary","title":"Anterior pituitary hypoplasia"},{"container-title":"HP:0010628","author":[{"family":"facial nerve paralysis"},{"family":"bell's palsy"},{"family":"facial nerve palsy"},{"family":"cranial nerve vii palsy"},{"family":"seventh cranial nerve palsy"},{"family":"facial palsy, unilateral or bilateral"},{"family":"vii th cranial nerve palsy"},{"family":"facial weakness"},{"family":"facial muscle weakness of muscles innervated by cn vii"},{"family":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010628","type":"entry-dictionary","title":"Facial palsy"},{"container-title":"HP:0010629","author":[{"family":"Any abnormality affecting the cortex of the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010629","type":"entry-dictionary","title":"Abnormal morphology of the cortex of the humerus"},{"container-title":"HP:0010630","author":[{"family":"abnormality of the epiphyses of the metatarsals"},{"family":"abnormality of end part of long bone of foot"},{"family":"Any abnormality of a metatarsal bone epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010630","type":"entry-dictionary","title":"Abnormality of metatarsal epiphysis"},{"container-title":"HP:0010631","author":[{"family":"abnormality of the end part of the foot bone"},{"family":"Any abnormality of the epiphyses of the feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010631","type":"entry-dictionary","title":"Abnormality of the epiphyses of the feet"},{"container-title":"HP:0010632","author":[{"family":"Inability to detect any qualitative olfactory sensation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010632","type":"entry-dictionary","title":"Total anosmia"},{"container-title":"HP:0010633","author":[{"family":"Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010633","type":"entry-dictionary","title":"Partial anosmia"},{"container-title":"HP:0010634","author":[{"family":"Reduced ability to detect any qualitative olfactory sensation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010634","type":"entry-dictionary","title":"Total hyposmia"},{"container-title":"HP:0010635","author":[{"family":"Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010635","type":"entry-dictionary","title":"Partial hyposmia"},{"container-title":"HP:0010636","author":[{"family":"The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010636","type":"entry-dictionary","title":"Schizencephaly"},{"container-title":"HP:0010637","author":[{"family":"A form of amyloidosis that affects the conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010637","type":"entry-dictionary","title":"Conjunctival amyloidosis"},{"container-title":"HP:0010638","author":[{"family":"An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010638","type":"entry-dictionary","title":"Elevated alkaline phosphatase of hepatic origin"},{"container-title":"HP:0010639","author":[{"family":"increased serum bone-specific alkaline phosphatase"},{"family":"elevated alkaline phosphatase of bone origin"},{"family":"An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010639","type":"entry-dictionary","title":"Elevated alkaline phosphatase of bone origin"},{"container-title":"HP:0010640","author":[{"family":"Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010640","type":"entry-dictionary","title":"Abnormality of the nasal cavity"},{"container-title":"HP:0010641","author":[{"family":"Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010641","type":"entry-dictionary","title":"Abnormality of the midnasal cavity"},{"container-title":"HP:0010643","author":[{"family":"Absence or abnormal closure of the midnasal cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010643","type":"entry-dictionary","title":"Midnasal atresia"},{"container-title":"HP:0010644","author":[{"family":"midnasal atresia or stenosis"},{"family":"Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010644","type":"entry-dictionary","title":"Midnasal stenosis"},{"container-title":"HP:0010645","author":[{"family":"absent outermost bone of the toes"},{"family":"Absence of the distal phalanges of the toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010645","type":"entry-dictionary","title":"Aplasia of the distal phalanges of the toes"},{"container-title":"HP:0010646","author":[{"family":"An abnormal lack of stability of the cervical spine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010646","type":"entry-dictionary","title":"Cervical spine instability"},{"container-title":"HP:0010647","author":[{"family":"Any abnormal increase or reduction in skin elasticity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010647","type":"entry-dictionary","title":"Abnormal elasticity of skin"},{"container-title":"HP:0010648","author":[{"family":"translucent skin"},{"family":"An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010648","type":"entry-dictionary","title":"Dermal translucency"},{"container-title":"HP:0010649","author":[{"family":"flat nasal alar cartilage"},{"family":"depressed nasal alae"},{"family":"An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010649","type":"entry-dictionary","title":"Flat nasal alae"},{"container-title":"HP:0010650","author":[{"family":"premaxillary bone deficiency"},{"family":"small primary palate bone"},{"family":"premaxillary retrusion"},{"family":"small premaxilla"},{"family":"underdevelopment of the premaxilla"},{"family":"primary palate bone deficiency"},{"family":"underdevelopment of premaxilla"},{"family":"underdevelopment of the primary palate bone"},{"family":"hypoplasia of the intermaxillary bone"},{"family":"hypoplasia of the primary palate bone"},{"family":"decreased size of the primary palate bone"},{"family":"premaxillary bone retrusion"},{"family":"decreased size of premaxilla"},{"family":"premaxillary underdevelopment"},{"family":"primary palate bone retrusion"},{"family":"An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010650","type":"entry-dictionary","title":"Hypoplasia of the premaxilla"},{"container-title":"HP:0010651","author":[{"family":"An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010651","type":"entry-dictionary","title":"Abnormality of the meninges"},{"container-title":"HP:0010652","author":[{"family":"An abnormality of the Dura mater."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010652","type":"entry-dictionary","title":"Abnormality of the dura mater"},{"container-title":"HP:0010653","author":[{"family":"abnormality of the cerebral falx"},{"family":"An abnormality of the Falx cerebri."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010653","type":"entry-dictionary","title":"Abnormality of the falx cerebri"},{"container-title":"HP:0010654","author":[{"family":"absent cerebral falx"},{"family":"A developmental defect characterized by aplasia of the Falx cerebri."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010654","type":"entry-dictionary","title":"Aplasia of the falx cerebri"},{"container-title":"HP:0010655","author":[{"family":"stippling of the epiphyses"},{"family":"speckled calcifications in end part of bone"},{"family":"epiphyseal punctate calcifications"},{"family":"stippled epiphyses"},{"family":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010655","type":"entry-dictionary","title":"Epiphyseal stippling"},{"container-title":"HP:0010656","author":[{"family":"abnormality of the mineralisation or ossification of the epiphyses"},{"family":"abnormal maturation of the end part of a bone"},{"family":"An abnormality of the formation and mineralization of an epiphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010656","type":"entry-dictionary","title":"Abnormal epiphyseal ossification"},{"container-title":"HP:0010657","author":[{"family":"Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010657","type":"entry-dictionary","title":"Patchy reduction of bone mineral density"},{"container-title":"HP:0010658","author":[{"family":"Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010658","type":"entry-dictionary","title":"Patchy changes of bone mineral density"},{"container-title":"HP:0010659","author":[{"family":"patchy increased and decreased bone mineral density"},{"family":"Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010659","type":"entry-dictionary","title":"Patchy variation in bone mineral density"},{"container-title":"HP:0010660","author":[{"family":"abnormal ossification of hand bones"},{"family":"abnormal maturation of the hand bone"},{"family":"abnormality of the mineralisation and ossification of bones of the hand"},{"family":"An abnormality of the formation and mineralization of any bone of the skeleton of hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010660","type":"entry-dictionary","title":"Abnormal hand bone ossification"},{"container-title":"HP:0010661","author":[{"family":"A developmental defect characterized by the absence of the Third ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010661","type":"entry-dictionary","title":"Absence of the third cerebral ventricle"},{"container-title":"HP:0010662","author":[{"family":"An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010662","type":"entry-dictionary","title":"Abnormality of the diencephalon"},{"container-title":"HP:0010663","author":[{"family":"abnormality of the thalamus"},{"family":"abnormal shape of thalamus"},{"family":"An abnormality of the thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010663","type":"entry-dictionary","title":"Abnormality of thalamus morphology"},{"container-title":"HP:0010664","author":[{"family":"fused thalami"},{"family":"fusion of thamali"},{"family":"undivided thalami"},{"family":"A developmental defect characterized by fusion of the left and right halves of the thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010664","type":"entry-dictionary","title":"Fusion of the left and right thalami"},{"container-title":"HP:0010665","author":[{"family":"The presence of bilateral coxa_valga."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010665","type":"entry-dictionary","title":"Bilateral coxa valga"},{"container-title":"HP:0010666","author":[{"family":"small anterior nasal spine"},{"family":"deficiency of anterior nasal spine"},{"family":"decreased size of anterior nasal spine"},{"family":"decreased length of anterior nasal spine"},{"family":"underdevelopment of anterior nasal spine"},{"family":"decreased projection of anterior nasal spine"},{"family":"hypotrophic anterior nasal spine"},{"family":"Underdevelopment of the anterior nasal spine of maxilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010666","type":"entry-dictionary","title":"Hypoplasia of the anterior nasal spine"},{"container-title":"HP:0010667","author":[{"family":"aplasia of the upper jaw bones"},{"family":"failure of development of upper jaw bones"},{"family":"missing upper jaw bones"},{"family":"absence of upper jaw bones"},{"family":"agenesis of the maxilla"},{"family":"failure of development of maxilla"},{"family":"absence of the maxilla"},{"family":"A congenital defect characterized by absence of the Maxilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010667","type":"entry-dictionary","title":"Aplasia of the maxilla"},{"container-title":"HP:0010668","author":[{"family":"deformity of the zygomatic bone"},{"family":"deformity of the cheekbone"},{"family":"malformation of the zygomatic bone"},{"family":"abnormality of the cheekbone"},{"family":"anomaly of the zygomatic bone"},{"family":"An abnormality of the zygomatic bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010668","type":"entry-dictionary","title":"Abnormality of the zygomatic bone"},{"container-title":"HP:0010669","author":[{"family":"depressed zygomatic bone"},{"family":"small cheekbone"},{"family":"underdevelopment of zygomatic bone"},{"family":"small malar bone"},{"family":"decreased size of zygomatic bone"},{"family":"cheekbone underdevelopment"},{"family":"flattening of the zygomatic bone"},{"family":"hypotrophy of the zygomatic bone"},{"family":"underdevelopment of cheekbone"},{"family":"hypoplasia of cheekbone"},{"family":"hypotrophic zygomatic bone"},{"family":"hypotrophic cheekbone"},{"family":"depressed cheekbone"},{"family":"decreased size of cheekbone"},{"family":"small zygomatic bone"},{"family":"hypotrophy of the cheekbone"},{"family":"Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010669","type":"entry-dictionary","title":"Hypoplasia of the zygomatic bone"},{"container-title":"HP:0010672","author":[{"family":"abnormality of the 3rd long bone of foot"},{"family":"An abnormality of the third metatarsal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010672","type":"entry-dictionary","title":"Abnormality of the third metatarsal bone"},{"container-title":"HP:0010674","author":[{"family":"abnormal curve of the backbone"},{"family":"abnormal curve of the spine"},{"family":"The presence of an abnormal curvature of the vertebral column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010674","type":"entry-dictionary","title":"Abnormality of the curvature of the vertebral column"},{"container-title":"HP:0010675","author":[{"family":"abnormal maturation of foot bones"},{"family":"abnormality of the mineralisation and ossification of bones of the feet"},{"family":"abnormal ossification involving bones of the feet"},{"family":"An abnormality of the formation and mineralization of any bone of the skeleton of foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010675","type":"entry-dictionary","title":"Abnormal foot bone ossification"},{"container-title":"HP:0010676","author":[{"family":"Mechanical ileus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010676","type":"entry-dictionary","title":"Mechanical ileus"},{"container-title":"HP:0010677","author":[{"family":"nocturnal enuresis"},{"family":"Enuresis occurring during sleeping hours."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010677","type":"entry-dictionary","title":"Enuresis nocturna"},{"container-title":"HP:0010678","author":[{"family":"Enuresis occurring during waking hours of the day."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010678","type":"entry-dictionary","title":"Enuresis diurna"},{"container-title":"HP:0010679","author":[{"family":"elevated alkaline phosphatase, liver\/bone\/kidney"},{"family":"An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010679","type":"entry-dictionary","title":"Elevated tissue non-specific alkaline phosphatase"},{"container-title":"HP:0010680","author":[{"family":"An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010680","type":"entry-dictionary","title":"Elevated alkaline phosphatase of renal origin"},{"container-title":"HP:0010681","author":[{"family":"An abnormally increased level of alkaline phosphatase, intestinal type in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010681","type":"entry-dictionary","title":"Elevated intestinal alkaline phosphatase"},{"container-title":"HP:0010682","author":[{"family":"An abnormally increased level of alkaline phosphatase, placental type in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010682","type":"entry-dictionary","title":"Elevated placental alkaline phosphatase"},{"container-title":"HP:0010683","author":[{"family":"An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010683","type":"entry-dictionary","title":"Low tissue non-specific alkaline phosphatase"},{"container-title":"HP:0010684","author":[{"family":"An abnormally reduced level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010684","type":"entry-dictionary","title":"Low alkaline phosphatase of bone origin"},{"container-title":"HP:0010685","author":[{"family":"An abnormally reduced level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010685","type":"entry-dictionary","title":"Low alkaline phosphatase of renal origin"},{"container-title":"HP:0010686","author":[{"family":"An abnormally reduced level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010686","type":"entry-dictionary","title":"Low alkaline phosphatase of hepatic origin"},{"container-title":"HP:0010687","author":[{"family":"An abnormally reduced level of alkaline phosphatase, intestinal type in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010687","type":"entry-dictionary","title":"Low intestinal alkaline phosphatase"},{"container-title":"HP:0010688","author":[{"family":"An abnormally reduced level of alkaline phosphatase, placental type in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010688","type":"entry-dictionary","title":"Low placental alkaline phosphatase"},{"container-title":"HP:0010689","author":[{"family":"mirror image duplication of digits"},{"family":"A hand or foot with more than five digits that has a recognizable A\/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers\/toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010689","type":"entry-dictionary","title":"Mirror image polydactyly"},{"container-title":"HP:0010690","author":[{"family":"mirror image dupliction of fingers"},{"family":"Mirror image duplication of digits affecting the hands only."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010690","type":"entry-dictionary","title":"Mirror image hand polydactyly"},{"container-title":"HP:0010691","author":[{"family":"mirror image dupliction of toes"},{"family":"Mirror image duplication of digits affecting the feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010691","type":"entry-dictionary","title":"Mirror image foot polydactyly"},{"container-title":"HP:0010692","author":[{"family":"webbed index, middle and little finger"},{"family":"webbed index, middle and pinky finger"},{"family":"webbed 2nd-5th fingers"},{"family":"webbed index, middle and pinkie finger"},{"family":"Syndactyly with fusion of fingers two to five."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010692","type":"entry-dictionary","title":"2-5 finger syndactyly"},{"container-title":"HP:0010693","author":[{"family":"pulverulent cataract"},{"family":"A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010693","type":"entry-dictionary","title":"Pulverulent cataract"},{"container-title":"HP:0010694","author":[{"family":"A Lamellar cataract with a pulverulent (punctate, \"dust-like\" opacities) appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010694","type":"entry-dictionary","title":"Lamellar pulverulent cataract"},{"container-title":"HP:0010695","author":[{"family":"A type of congenital cataract in which the opacity follows the anterior or posterior Y suture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010695","type":"entry-dictionary","title":"Sutural cataract"},{"container-title":"HP:0010696","author":[{"family":"A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010696","type":"entry-dictionary","title":"Polar cataract"},{"container-title":"HP:0010697","author":[{"family":"pyramidal cataract"},{"family":"A type of anterior polar cataract which projects as a conical opacity into the anterior chamber."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010697","type":"entry-dictionary","title":"Anterior pyramidal cataract"},{"container-title":"HP:0010698","author":[{"family":"cataracta pulverulenta centralis"},{"family":"central pulverulent cataract"},{"family":"pulverulent nuclear cataract"},{"family":"A type of nuclear cataract involving congenital pulverulent disc-like opacity of the embryonal and fetal nucleus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010698","type":"entry-dictionary","title":"Nuclear pulverulent cataract"},{"container-title":"HP:0010699","author":[{"family":"A nuclear cataract with a triangular form."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010699","type":"entry-dictionary","title":"Triangular nuclear cataract"},{"container-title":"HP:0010700","author":[{"family":"A Congenital cataract characterized by an opacity of all the fibers of a lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010700","type":"entry-dictionary","title":"Total cataract"},{"container-title":"HP:0010701","author":[{"family":"abnormal serum level of immunoglobulin"},{"family":"abnormal immunoglobulin concentration"},{"family":"abnormal serum immunoglobulin concentration"},{"family":"abnormal serum immunoglobulin levels"},{"family":"immunoglobulin abnormality"},{"family":"An abnormal deviation from normal levels of immunoglobulins in blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010701","type":"entry-dictionary","title":"Abnormal immunoglobulin level"},{"container-title":"HP:0010702","author":[{"family":"hypergammaglobulinemia"},{"family":"hyperglobulinemia"},{"family":"raised immunoglobulin levels"},{"family":"elevated immunoglobulin levels"},{"family":"increased serum gamma globulin"},{"family":"increased gamma globulin"},{"family":"increased immunoglobulin level"},{"family":"hypergammaglobulinaemia"},{"family":"An increased level of gamma globulin (immunoglobulin) in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010702","type":"entry-dictionary","title":"Increased antibody level in blood"},{"container-title":"HP:0010704","author":[{"family":"webbed 1st-2nd finger"},{"family":"webbed thumb and index finger"},{"family":"Syndactyly with fusion of fingers one and two."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010704","type":"entry-dictionary","title":"1-2 finger syndactyly"},{"container-title":"HP:0010705","author":[{"family":"webbed 4th-5th finger"},{"family":"Syndactyly with fusion of fingers four and five."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010705","type":"entry-dictionary","title":"4-5 finger syndactyly"},{"container-title":"HP:0010706","author":[{"family":"webbed 1st-3rd finger"},{"family":"Syndactyly with fusion of fingers one to three."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010706","type":"entry-dictionary","title":"1-3 finger syndactyly"},{"container-title":"HP:0010707","author":[{"family":"webbed 1st-4th finger"},{"family":"Syndactyly with fusion of fingers one to four."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010707","type":"entry-dictionary","title":"1-4 finger syndactyly"},{"container-title":"HP:0010708","author":[{"family":"webbed 1st-5th fingers"},{"family":"Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010708","type":"entry-dictionary","title":"1-5 finger syndactyly"},{"container-title":"HP:0010709","author":[{"family":"syndactyly of second to fourth fingers"},{"family":"webbed index through ring fingers"},{"family":"Syndactyly with fusion of the fingers two to four."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010709","type":"entry-dictionary","title":"2-4 finger syndactyly"},{"container-title":"HP:0010710","author":[{"family":"webbed third, fourth and fifth toes"},{"family":"Syndactyly with fusion of fingers three to five."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010710","type":"entry-dictionary","title":"3-5 finger syndactyly"},{"container-title":"HP:0010711","author":[{"family":"webbed first and second toes"},{"family":"Syndactyly with fusion of toes one and two."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010711","type":"entry-dictionary","title":"1-2 toe syndactyly"},{"container-title":"HP:0010712","author":[{"family":"webbed first through fourth toes"},{"family":"Syndactyly with fusion of toes one to four."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010712","type":"entry-dictionary","title":"1-4 toe syndactyly"},{"container-title":"HP:0010713","author":[{"family":"syndactyly of all toes"},{"family":"webbed 1st-5th toes"},{"family":"Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010713","type":"entry-dictionary","title":"1-5 toe syndactyly"},{"container-title":"HP:0010714","author":[{"family":"syndactyly of toes 2, 3 and 4"},{"family":"webbed 2nd-4th toes"},{"family":"syndactyly toes 2-4"},{"family":"Syndactyly with fusion of toes two to four."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010714","type":"entry-dictionary","title":"2-4 toe syndactyly"},{"container-title":"HP:0010715","author":[{"family":"webbed 2nd-5th toes"},{"family":"Syndactyly with fusion of toes two to five."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010715","type":"entry-dictionary","title":"2-5 toe syndactyly"},{"container-title":"HP:0010716","author":[{"family":"webbed 3rd-5th toes"},{"family":"Syndactyly with fusion of toes three to five."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010716","type":"entry-dictionary","title":"3-5 toe syndactyly"},{"container-title":"HP:0010717","author":[{"family":"osseous syndactyly of the toes"},{"family":"Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are revered to as \"bony\" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010717","type":"entry-dictionary","title":"Osseous syndactyly of toes"},{"container-title":"HP:0010719","author":[{"family":"abnormality of hair texture"},{"family":"abnormality of hair volume"},{"family":"abnormality of hair consistency"},{"family":"abnormality of hair curl pattern"},{"family":"An abnormality of the texture of the hair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010719","type":"entry-dictionary","title":"Abnormality of hair texture"},{"container-title":"HP:0010720","author":[{"family":"abnormal hair pattern"},{"family":"abnormal distribution of hair"},{"family":"An abnormality of the distribution of hair growth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010720","type":"entry-dictionary","title":"Abnormal hair pattern"},{"container-title":"HP:0010721","author":[{"family":"abnormal hair whorls"},{"family":"An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010721","type":"entry-dictionary","title":"Abnormal hair whorl"},{"container-title":"HP:0010722","author":[{"family":"asymmetric ears"},{"family":"An asymmetriy, i.e., difference in size, shape or position between the left and right ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010722","type":"entry-dictionary","title":"Asymmetry of the ears"},{"container-title":"HP:0010723","author":[{"family":"Cystic lesions of the pinnae"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010723","type":"entry-dictionary","title":"Cystic lesions of the pinnae"},{"container-title":"HP:0010724","author":[{"family":"An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010724","type":"entry-dictionary","title":"Advanced pneumatization of the mastoid process"},{"container-title":"HP:0010726","author":[{"family":"visible corneal nerve fibers"},{"family":"Abnormal prominence of the corneal nerve fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010726","type":"entry-dictionary","title":"Prominent corneal nerve fibers"},{"container-title":"HP:0010727","author":[{"family":"Rupture of the eyeball not due to trauma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010727","type":"entry-dictionary","title":"Spontaneous rupture of the globe"},{"container-title":"HP:0010728","author":[{"family":"absent retina"},{"family":"A developmental defect characterized by absence of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010728","type":"entry-dictionary","title":"Aplasia of the retina"},{"container-title":"HP:0010729","author":[{"family":"macular cherry red spot"},{"family":"Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010729","type":"entry-dictionary","title":"Cherry red spot of the macula"},{"container-title":"HP:0010730","author":[{"family":"double eyebrow"},{"family":"duplication of eyebrow"},{"family":"This may present as a partial or complete duplication of the eyebrows."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010730","type":"entry-dictionary","title":"Double eyebrow"},{"container-title":"HP:0010731","author":[{"family":"extension of eyebrows towards upper eyelid"},{"family":"The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010731","type":"entry-dictionary","title":"Extension of eyebrows towards upper eyelid"},{"container-title":"HP:0010732","author":[{"family":"eyelid nodules"},{"family":"Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010732","type":"entry-dictionary","title":"Nodular changes affecting the eyelids"},{"container-title":"HP:0010733","author":[{"family":"port-wine stain on eyelid"},{"family":"Naevus flammeus localised in the skin of the eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010733","type":"entry-dictionary","title":"Naevus flammeus of the eyelid"},{"container-title":"HP:0010734","author":[{"family":"Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010734","type":"entry-dictionary","title":"Fibrous dysplasia of the bones"},{"container-title":"HP:0010735","author":[{"family":"Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010735","type":"entry-dictionary","title":"Polyostotic fibrous dysplasia"},{"container-title":"HP:0010736","author":[{"family":"Fibrous dysplasia of the bones were lesions are localized in only one bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010736","type":"entry-dictionary","title":"Monostotic fibrous dysplasia"},{"container-title":"HP:0010739","author":[{"family":"Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010739","type":"entry-dictionary","title":"Osteopoikilosis"},{"container-title":"HP:0010740","author":[{"family":"A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010740","type":"entry-dictionary","title":"Osteopathia striata"},{"container-title":"HP:0010741","author":[{"family":"fluid accumulation in lower limbs"},{"family":"peripheral edema of lower extremity"},{"family":"leg edema"},{"family":"An abnormal accumulation of fluid beneath the skin of the legs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010741","type":"entry-dictionary","title":"Edema of the lower limbs"},{"container-title":"HP:0010742","author":[{"family":"fluid accumulation in upper limbs"},{"family":"An abnormal accumulation of fluid beneath the skin of the arms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010742","type":"entry-dictionary","title":"Edema of the upper limbs"},{"container-title":"HP:0010743","author":[{"family":"hypoplasia of the metatarsal bones"},{"family":"hypoplastic metatarsals"},{"family":"short metatarsal bones"},{"family":"shortened metatarsals"},{"family":"short long bone of foot"},{"family":"short metatarsals"},{"family":"Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010743","type":"entry-dictionary","title":"Short metatarsal"},{"container-title":"HP:0010744","author":[{"family":"absent long bone of foot"},{"family":"aplasia of the metatarsal bones"},{"family":"A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010744","type":"entry-dictionary","title":"Absent metatarsal bone"},{"container-title":"HP:0010745","author":[{"family":"aphalangia of the toes"},{"family":"absent bones of the toes"},{"family":"Absence of a digit or of one or more phalanges of a toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010745","type":"entry-dictionary","title":"Aplasia of the phalanges of the toes"},{"container-title":"HP:0010746","author":[{"family":"small toe bones"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010746","type":"entry-dictionary","title":"Hypoplasia of the phalanges of the toes"},{"container-title":"HP:0010747","author":[{"family":"An abnormal distribution of eyebrow hair growth in the medial direction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010747","type":"entry-dictionary","title":"Medial flaring of the eyebrow"},{"container-title":"HP:0010748","author":[{"family":"abnormal position of the lacrimal punctum"},{"family":"Positioning of a lacrimal punctum other than at the medial margins of the eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010748","type":"entry-dictionary","title":"Ectopic lacrimal punctum"},{"container-title":"HP:0010749","author":[{"family":"saggy upper eyelid skin"},{"family":"Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010749","type":"entry-dictionary","title":"Blepharochalasis"},{"container-title":"HP:0010750","author":[{"family":"eyelid dermatochalasia"},{"family":"droopy eyelid skin"},{"family":"hooding of eyelids"},{"family":"baggy eyes"},{"family":"redundant eyelid skin"},{"family":"extra eyelid skin"},{"family":"Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010750","type":"entry-dictionary","title":"Dermatochalasis"},{"container-title":"HP:0010751","author":[{"family":"dimple chin"},{"family":"chin skin dimple"},{"family":"gelasin of chin"},{"family":"chin dimples"},{"family":"indentation of chin"},{"family":"chin dent"},{"family":"chin butt"},{"family":"A persistent midline depression of the skin over the fat pad of the chin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010751","type":"entry-dictionary","title":"Dimple chin"},{"container-title":"HP:0010752","author":[{"family":"cleft lower jaw"},{"family":"mandibular cleft"},{"family":"Midline deficiency of the mandible and some or all overlying tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010752","type":"entry-dictionary","title":"Cleft mandible"},{"container-title":"HP:0010753","author":[{"family":"midline cleft of mandible"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010753","type":"entry-dictionary","title":"Midline defect of mandible"},{"container-title":"HP:0010754","author":[{"family":"anomaly of the temporomandibular joint"},{"family":"deformity of the jaw joint"},{"family":"deformity of the temporomandibular joint"},{"family":"derangement of the temporomandibular joint"},{"family":"abnormality of the jaw joint"},{"family":"malformation of jaw joint"},{"family":"malformation of the temporomandibular joint"},{"family":"An anomaly of the temporomandibular joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010754","type":"entry-dictionary","title":"Abnormality of the temporomandibular joint"},{"container-title":"HP:0010755","author":[{"family":"uneven upper jaw"},{"family":"canted upper jaw"},{"family":"uneven maxilla"},{"family":"asymmetry of right and left side of the maxilla"},{"family":"asymmetry of upper jaw"},{"family":"crooked maxilla"},{"family":"canted maxilla"},{"family":"tilted upper jaw"},{"family":"unequal sides of maxilla"},{"family":"asymmetry of the upper jaw"},{"family":"deviation of the maxilla"},{"family":"crooked upper jaw"},{"family":"deviation of the upper jaw"},{"family":"tilted maxilla"},{"family":"Asymmetry between the left and right sides of the maxilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010755","type":"entry-dictionary","title":"Asymmetry of the maxilla"},{"container-title":"HP:0010756","author":[{"family":"aplasia\/hypoplasia of the intermaxillary bone"},{"family":"aplasia\/hypoplasia of the primary palate bone"},{"family":"Absence or underdevelopment of the premaxilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010756","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the premaxilla"},{"container-title":"HP:0010757","author":[{"family":"missing premaxilla"},{"family":"failure of development of premaxilla"},{"family":"aplasia of the primary palate bone"},{"family":"missing primary palate bone"},{"family":"absence of the premaxilla"},{"family":"absence of the intermaxillary bone"},{"family":"absence of the primary palate bone"},{"family":"failure of development of the primary palate bone"},{"family":"aplasia of the intermaxillary bone"},{"family":"Absence of the Premaxilla, which is the embryonic structure that forms the anterior part of the maxilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010757","type":"entry-dictionary","title":"Aplasia of the premaxilla"},{"container-title":"HP:0010758","author":[{"family":"abnormality of the primary palate bone"},{"family":"abnormality of the intermaxillary segment of the maxilla"},{"family":"abnormality of the premaxillary bone"},{"family":"abnormality of the intermaxillary bone"},{"family":"An abnormality of the premaxilla [UBERON_0002244], the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010758","type":"entry-dictionary","title":"Abnormality of the premaxilla"},{"container-title":"HP:0010759","author":[{"family":"anterior position of the premaxilla"},{"family":"prominence of the primary palate bone"},{"family":"anterior position of the primary palate bone"},{"family":"prominence of the intermaxillary bone"},{"family":"premaxillary bone excess"},{"family":"Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010759","type":"entry-dictionary","title":"Prominence of the premaxilla"},{"container-title":"HP:0010760","author":[{"family":"absent toes"},{"family":"aplasia of the toes"},{"family":"aplasia of toe"},{"family":"Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010760","type":"entry-dictionary","title":"Absent toe"},{"container-title":"HP:0010761","author":[{"family":"fullness of columella"},{"family":"columella, wide"},{"family":"increased width of columella"},{"family":"columella, broad"},{"family":"hyperplasia of columella"},{"family":"Increased width of the columella."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010761","type":"entry-dictionary","title":"Broad columella"},{"container-title":"HP:0010762","author":[{"family":"A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010762","type":"entry-dictionary","title":"Chordoma"},{"container-title":"HP:0010763","author":[{"family":"columella, low insertion"},{"family":"ala higher than columella"},{"family":"Insertion of the posterior columella below the nasal base."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010763","type":"entry-dictionary","title":"Low insertion of columella"},{"container-title":"HP:0010764","author":[{"family":"short eyelashes"},{"family":"decreased length of eyelashes"},{"family":"Decreased length of the eyelashes (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010764","type":"entry-dictionary","title":"Short eyelashes"},{"container-title":"HP:0010765","author":[{"family":"Hyperkeratosis affecting the palm of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010765","type":"entry-dictionary","title":"Palmar hyperkeratosis"},{"container-title":"HP:0010766","author":[{"family":"Deposition of calcium salts in a tissue or location in which calcification does not normally occur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010766","type":"entry-dictionary","title":"Ectopic calcification"},{"container-title":"HP:0010767","author":[{"family":"The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010767","type":"entry-dictionary","title":"Sacrococcygeal pilonidal abnormality"},{"container-title":"HP:0010769","author":[{"family":"pilonidal cyst"},{"family":"A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010769","type":"entry-dictionary","title":"Pilonidal sinus"},{"container-title":"HP:0010770","author":[{"family":"Pilonidal fistula"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010770","type":"entry-dictionary","title":"Pilonidal fistula"},{"container-title":"HP:0010771","author":[{"family":"sacrococcygeal fistula"},{"family":"A hair-containing cyst or sinus usually in the coccygeal region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010771","type":"entry-dictionary","title":"Pilonidal abscess"},{"container-title":"HP:0010772","author":[{"family":"A developmental defect characterized by abnormal connection of or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010772","type":"entry-dictionary","title":"Anomalous pulmonary venous return"},{"container-title":"HP:0010773","author":[{"family":"partial anomalous pulmonary venous connection"},{"family":"A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010773","type":"entry-dictionary","title":"Partial anomalous pulmonary venous return"},{"container-title":"HP:0010774","author":[{"family":"triatrial heart"},{"family":"The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010774","type":"entry-dictionary","title":"Cor triatriatum"},{"container-title":"HP:0010775","author":[{"family":"vascular ring of aorta"},{"family":"A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010775","type":"entry-dictionary","title":"Vascular ring"},{"container-title":"HP:0010776","author":[{"family":"Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010776","type":"entry-dictionary","title":"Tracheobronchmegaly"},{"container-title":"HP:0010777","author":[{"family":"Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010777","type":"entry-dictionary","title":"Bronchomegaly"},{"container-title":"HP:0010778","author":[{"family":"Marked widening of the trachea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010778","type":"entry-dictionary","title":"Tracheomegaly"},{"container-title":"HP:0010779","author":[{"family":"large pelvis bone"},{"family":"The presence of an abnormally large pelvis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010779","type":"entry-dictionary","title":"Large pelvis bone"},{"container-title":"HP:0010780","author":[{"family":"Over-sensitivity to certain frequency ranges of sound."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010780","type":"entry-dictionary","title":"Hyperacusis"},{"container-title":"HP:0010781","author":[{"family":"skin dimples"},{"family":"Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010781","type":"entry-dictionary","title":"Skin dimples"},{"container-title":"HP:0010782","author":[{"family":"shoulder dimples"},{"family":"A subtype of skin dimples occurring in the shoulder region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010782","type":"entry-dictionary","title":"Shoulder dimples"},{"container-title":"HP:0010783","author":[{"family":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010783","type":"entry-dictionary","title":"Erythema"},{"container-title":"HP:0010784","author":[{"family":"uterine cancer"},{"family":"uterine neoplasia"},{"family":"uterine tumor"},{"family":"A tumor (abnormal growth of tissue) of the uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010784","type":"entry-dictionary","title":"Uterine neoplasm"},{"container-title":"HP:0010785","author":[{"family":"gonadal neoplasia"},{"family":"A tumor (abnormal growth of tissue) of a gonad."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010785","type":"entry-dictionary","title":"Gonadal neoplasm"},{"container-title":"HP:0010786","author":[{"family":"urinary tract neoplasia"},{"family":"The presence of a neoplasm of the urinary system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010786","type":"entry-dictionary","title":"Urinary tract neoplasm"},{"container-title":"HP:0010787","author":[{"family":"genital neoplasia"},{"family":"genital tumor"},{"family":"A tumor (abnormal growth of tissue) of the genital system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010787","type":"entry-dictionary","title":"Genital neoplasm"},{"container-title":"HP:0010788","author":[{"family":"testicular cancer"},{"family":"testicular neoplasia"},{"family":"testicular tumor"},{"family":"The presence of a neoplasm of the testis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010788","type":"entry-dictionary","title":"Testicular neoplasm"},{"container-title":"HP:0010789","author":[{"family":"Abnormality of the Leydig cells"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010789","type":"entry-dictionary","title":"Abnormality of the Leydig cells"},{"container-title":"HP:0010790","author":[{"family":"Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010790","type":"entry-dictionary","title":"Hyoplasia of the Leydig cells"},{"container-title":"HP:0010791","author":[{"family":"Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010791","type":"entry-dictionary","title":"Hyperplasia of the Leydig cells"},{"container-title":"HP:0010793","author":[{"family":"notched nail"},{"family":"duplicated nail"},{"family":"A digit with two nails, with at least some soft tissue between them."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010793","type":"entry-dictionary","title":"Bifid nail"},{"container-title":"HP:0010794","author":[{"family":"Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010794","type":"entry-dictionary","title":"Impaired visuospatial constructive cognition"},{"container-title":"HP:0010795","author":[{"family":"A glioma affecting the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010795","type":"entry-dictionary","title":"Cerebellar glioma"},{"container-title":"HP:0010796","author":[{"family":"A glioma affecting the brainstem."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010796","type":"entry-dictionary","title":"Brainstem glioma"},{"container-title":"HP:0010797","author":[{"family":"haemangioblastoma"},{"family":"A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010797","type":"entry-dictionary","title":"Hemangioblastoma"},{"container-title":"HP:0010798","author":[{"family":"ephelis of lip"},{"family":"labial lentigo"},{"family":"lip lentigo"},{"family":"lip freckle"},{"family":"Increased focal pigmentation of the vermilion of the lips."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010798","type":"entry-dictionary","title":"Lip freckle"},{"container-title":"HP:0010799","author":[{"family":"A neoplasm of the pineal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010799","type":"entry-dictionary","title":"Pinealoma"},{"container-title":"HP:0010800","author":[{"family":"agenesis of cupid's bow"},{"family":"failure of development of cupid's bow"},{"family":"lack of cupid's bow"},{"family":"missing cupid's bow"},{"family":"aplasia of cupid's bow"},{"family":"absent cupid's bow"},{"family":"Lack of paramedian peaks and median notch of the upper lip vermilion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010800","type":"entry-dictionary","title":"Absent cupid's bow"},{"container-title":"HP:0010801","author":[{"family":"nasolabial crease, underdeveloped"},{"family":"flat nasolabial fold"},{"family":"nasolabial crease, hypoplastic"},{"family":"shallow nasolabial fold"},{"family":"nasolabial fold, hypoplastic"},{"family":"Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010801","type":"entry-dictionary","title":"Underdeveloped nasolabial fold"},{"container-title":"HP:0010802","author":[{"family":"darkening of skin around the mouth"},{"family":"increased pigmentation around the mouth"},{"family":"Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010802","type":"entry-dictionary","title":"Perioral hyperpigmentation"},{"container-title":"HP:0010803","author":[{"family":"drooping upper lip"},{"family":"protruding upper lip"},{"family":"outward turned upper lip"},{"family":"everted prominent upper lip"},{"family":"everted upper lip"},{"family":"eclabium of upper lip"},{"family":"Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010803","type":"entry-dictionary","title":"Everted upper lip vermilion"},{"container-title":"HP:0010804","author":[{"family":"tented mouth"},{"family":"inverted v-shaped upper lip"},{"family":"tented upper lip"},{"family":"Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010804","type":"entry-dictionary","title":"Tented upper lip vermilion"},{"container-title":"HP:0010805","author":[{"family":"upturned oral commisures"},{"family":"upturned mouth"},{"family":"upturned corners of mouth"},{"family":"Oral commissures positioned superior to the midline labial fissure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010805","type":"entry-dictionary","title":"Upturned corners of mouth"},{"container-title":"HP:0010806","author":[{"family":"wide, carp-shaped mouth"},{"family":"carp-like mouth"},{"family":"large, carp-shaped mouth"},{"family":"fish mouth"},{"family":"Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010806","type":"entry-dictionary","title":"U-Shaped upper lip vermilion"},{"container-title":"HP:0010807","author":[{"family":"absence of overlap of upper and lower teeth"},{"family":"open bite between upper and lower teeth"},{"family":"Visible space between the dental arches in occlusion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010807","type":"entry-dictionary","title":"Open bite"},{"container-title":"HP:0010808","author":[{"family":"lingual prominence"},{"family":"prominent tongue"},{"family":"tongue protrusion"},{"family":"lingual protrusion"},{"family":"lingual prolapse"},{"family":"prolapse of tongue"},{"family":"protruding tongue"},{"family":"tongue sticking out of mouth"},{"family":"Tongue extending beyond the alveolar ridges or teeth at rest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010808","type":"entry-dictionary","title":"Protruding tongue"},{"container-title":"HP:0010809","author":[{"family":"wide uvula"},{"family":"Increased width of the uvula (subjective finding)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010809","type":"entry-dictionary","title":"Broad uvula"},{"container-title":"HP:0010810","author":[{"family":"elongated uvula"},{"family":"hyperplasia of uvula"},{"family":"long palatine uvula"},{"family":"Increased length of the uvula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010810","type":"entry-dictionary","title":"Long uvula"},{"container-title":"HP:0010811","author":[{"family":"thin uvula"},{"family":"narrow palatine uvula"},{"family":"Decreased width of the uvula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010811","type":"entry-dictionary","title":"Narrow uvula"},{"container-title":"HP:0010812","author":[{"family":"hypoplastic uvula"},{"family":"blunt uvula"},{"family":"short palatine uvula"},{"family":"Decreased length of the uvula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010812","type":"entry-dictionary","title":"Short uvula"},{"container-title":"HP:0010813","author":[{"family":"double crown (hair whorls)"},{"family":"extra hair swirls"},{"family":"supernumary hair swirls"},{"family":"supernumary hair whorl"},{"family":"extra hair whorl"},{"family":"abnormal number of hair swirls"},{"family":"abnormal number of hair whorls"},{"family":"More than two clockwise hair whorls."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010813","type":"entry-dictionary","title":"Abnormal number of hair whorls"},{"container-title":"HP:0010814","author":[{"family":"abnormal location of hair swirl"},{"family":"abnormal position of hair whorl"},{"family":"Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010814","type":"entry-dictionary","title":"Abnormal position of hair whorl"},{"container-title":"HP:0010815","author":[{"family":"sebaceous mole"},{"family":"sebaceous naevus"},{"family":"organoid nevus"},{"family":"sebaceous nevus"},{"family":"naevus sebaceous"},{"family":"A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010815","type":"entry-dictionary","title":"Nevus sebaceous"},{"container-title":"HP:0010816","author":[{"family":"epidermal nevi"},{"family":"Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010816","type":"entry-dictionary","title":"Epidermal nevus"},{"container-title":"HP:0010817","author":[{"family":"A type of nevus sebaceous with a linear form, raised borders and yellowish color."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010817","type":"entry-dictionary","title":"Linear nevus sebaceous"},{"container-title":"HP:0010818","author":[{"family":"hypertonic seizures"},{"family":"Generalized seizures with sustained increase in muscle contraction lasting a few seconds to minutes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010818","type":"entry-dictionary","title":"Generalized tonic seizures"},{"container-title":"HP:0010819","author":[{"family":"drop attacks"},{"family":"drop seizures"},{"family":"sudden loss of muscle tone"},{"family":"astatic seizures"},{"family":"hypotonic seizures"},{"family":"Seizures characterized by a sudden loss or diminution of muscle tone, which may be fragmentary, confined to a segment (limb, jaw, head), or massive, leading to a slumping to the ground ."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010819","type":"entry-dictionary","title":"Atonic seizures"},{"container-title":"HP:0010820","author":[{"family":"A type of seizure characterized by crying or an outburst of crying as a major feature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010820","type":"entry-dictionary","title":"Dacrystic seizures"},{"container-title":"HP:0010821","author":[{"family":"A type of seizure characterized by laughing or an outburst of laughing as a major feature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010821","type":"entry-dictionary","title":"Gelastic seizures"},{"container-title":"HP:0010822","author":[{"family":"A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010822","type":"entry-dictionary","title":"Scintillating scotoma"},{"container-title":"HP:0010823","author":[{"family":"cranial suture ridges"},{"family":"An overlap of the bony plates of the skull in an infant, with or without early closure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010823","type":"entry-dictionary","title":"Ridged cranial sutures"},{"container-title":"HP:0010824","author":[{"family":"abnormality of the nervus trigeminus"},{"family":"abnormality of the trigeminal nerve"},{"family":"An abormality of the fifth cranial nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010824","type":"entry-dictionary","title":"Abnormality of the fifth cranial nerve"},{"container-title":"HP:0010825","author":[{"family":"abnormality of cranial nerve xi"},{"family":"abnormality of the accessory nerve"},{"family":"Abnormality of the eleventh cranial nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010825","type":"entry-dictionary","title":"Abnormality of the eleventh cranial nerve"},{"container-title":"HP:0010826","author":[{"family":"abnormality of cranial nerve 12"},{"family":"abnormality of the hypoglossal nerve"},{"family":"abnormality of cranial nerve xii"},{"family":"Abnormality of the twelfth cranial nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010826","type":"entry-dictionary","title":"Abnormality of the twelfth cranial nerve"},{"container-title":"HP:0010827","author":[{"family":"abnormality of the facial nerve"},{"family":"Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010827","type":"entry-dictionary","title":"Abnormality of the seventh cranial nerve"},{"container-title":"HP:0010828","author":[{"family":"hemifacial spasms"},{"family":"spasms on one side of the face"},{"family":"A segmental myoclonus of muscles innervated by the facial nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010828","type":"entry-dictionary","title":"Hemifacial spasm"},{"container-title":"HP:0010829","author":[{"family":"abnormality of temperature sensation"},{"family":"impaired temperature sensation"},{"family":"loss of temperature sensation"},{"family":"A reduced ability to discriminate between different temperatures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010829","type":"entry-dictionary","title":"Impaired temperature sensation"},{"container-title":"HP:0010830","author":[{"family":"impaired touch sensation"},{"family":"loss of tactile sensation"},{"family":"A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010830","type":"entry-dictionary","title":"Impaired tactile sensation"},{"container-title":"HP:0010831","author":[{"family":"abnormality of proprioception"},{"family":"A loss or impairment of the sensation of the relative position of parts of the body and joint position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010831","type":"entry-dictionary","title":"Impaired proprioception"},{"container-title":"HP:0010832","author":[{"family":"Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010832","type":"entry-dictionary","title":"Abnormality of pain sensation"},{"container-title":"HP:0010833","author":[{"family":"Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010833","type":"entry-dictionary","title":"Spontaneous pain sensation"},{"container-title":"HP:0010834","author":[{"family":"trophic changes"},{"family":"Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010834","type":"entry-dictionary","title":"Trophic changes related to pain"},{"container-title":"HP:0010835","author":[{"family":"A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010835","type":"entry-dictionary","title":"Dissociated sensory loss"},{"container-title":"HP:0010836","author":[{"family":"abnormal copper levels"},{"family":"An abnormal concentration of copper."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010836","type":"entry-dictionary","title":"Abnormality of copper homeostasis"},{"container-title":"HP:0010837","author":[{"family":"hypoceruloplasminemia"},{"family":"decreased serum ceruloplasmin"},{"family":"hypoceruloplasminaemia"},{"family":"Decreased concentration of ceruloplasmin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010837","type":"entry-dictionary","title":"Decreased serum ceruloplasmin"},{"container-title":"HP:0010838","author":[{"family":"An increased concentration of non ceruloplasmin bound copper in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010838","type":"entry-dictionary","title":"High nonceruloplasmin-bound serum copper"},{"container-title":"HP:0010839","author":[{"family":"increased urinary copper concentration"},{"family":"An increased concentration of copper in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010839","type":"entry-dictionary","title":"Increased urinary copper concentration"},{"container-title":"HP:0010841","author":[{"family":"multifocal eeg abnormality"},{"family":"A abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010841","type":"entry-dictionary","title":"Multifocal epileptiform discharges"},{"container-title":"HP:0010843","author":[{"family":"eeg: focal slow activity"},{"family":"eeg: localised slow activity"},{"family":"eeg: localized slow activity"},{"family":"Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010843","type":"entry-dictionary","title":"EEG with focal slow activity"},{"container-title":"HP:0010844","author":[{"family":"Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010844","type":"entry-dictionary","title":"EEG with multifocal slow activity"},{"container-title":"HP:0010845","author":[{"family":"eeg: generalised slow activity"},{"family":"eeg: generalized slow activity"},{"family":"Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010845","type":"entry-dictionary","title":"EEG with generalized slow activity"},{"container-title":"HP:0010846","author":[{"family":"eeg: persistent abnormal rhythmic activity"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010846","type":"entry-dictionary","title":"EEG with persistent abnormal rhythmic activity"},{"container-title":"HP:0010847","author":[{"family":"The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010847","type":"entry-dictionary","title":"EEG with spike-wave complexes (<2.5 Hz)"},{"container-title":"HP:0010848","author":[{"family":"The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010848","type":"entry-dictionary","title":"EEG with spike-wave complexes (2.5-3.5 Hz)"},{"container-title":"HP:0010849","author":[{"family":"eeg with 3-4-hz spike waves"},{"family":"The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010849","type":"entry-dictionary","title":"EEG with spike-wave complexes (>3.5 Hz)"},{"container-title":"HP:0010850","author":[{"family":"Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010850","type":"entry-dictionary","title":"EEG with spike-wave complexes"},{"container-title":"HP:0010851","author":[{"family":"The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010851","type":"entry-dictionary","title":"EEG with burst suppression"},{"container-title":"HP:0010852","author":[{"family":"photoparoxysmal response on eeg"},{"family":"EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010852","type":"entry-dictionary","title":"EEG with photoparoxysmal response"},{"container-title":"HP:0010853","author":[{"family":"eeg: periodic lateralized epileptiform discharges"},{"family":"Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010853","type":"entry-dictionary","title":"EEG with periodic lateralized epileptiform discharges"},{"container-title":"HP:0010854","author":[{"family":"eeg: generalised low amplitude activity"},{"family":"An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010854","type":"entry-dictionary","title":"EEG with generalized low amplitude activity"},{"container-title":"HP:0010855","author":[{"family":"eeg: localised low amplitude activity"},{"family":"An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010855","type":"entry-dictionary","title":"EEG with localized low amplitude activity"},{"container-title":"HP:0010856","author":[{"family":"eeg: periodic complexes"},{"family":"radmecker complexes"},{"family":"Periodically occurring generalized periodic complexes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010856","type":"entry-dictionary","title":"EEG with periodic complexes"},{"container-title":"HP:0010857","author":[{"family":"eeg: periodic abnormalities"},{"family":"Periodically recurring abnormalities in the EEG."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010857","type":"entry-dictionary","title":"EEG with periodic abnormalities"},{"container-title":"HP:0010858","author":[{"family":"Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010858","type":"entry-dictionary","title":"EEG with hyperventilation-induced epileptiform discharges"},{"container-title":"HP:0010859","author":[{"family":"A kind of breech presentation in which the hips are flexed and the knees are extended."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010859","type":"entry-dictionary","title":"Frank breech presentation"},{"container-title":"HP:0010860","author":[{"family":"A kind of breech presentation in which the hips are flexed and the knees are flexed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010860","type":"entry-dictionary","title":"Complete breech presentation"},{"container-title":"HP:0010861","author":[{"family":"A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010861","type":"entry-dictionary","title":"Incomplete breech presentation"},{"container-title":"HP:0010862","author":[{"family":"A type of motor delay characterized by an delay in acquiring the ability to control the fingers and hands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010862","type":"entry-dictionary","title":"Delayed fine motor development"},{"container-title":"HP:0010863","author":[{"family":"A delay in the acquisition of the ability to understand the speech of others."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010863","type":"entry-dictionary","title":"Receptive language delay"},{"container-title":"HP:0010864","author":[{"family":"intellectual disability, severe"},{"family":"early and severe mental retardation"},{"family":"mental retardation, severe"},{"family":"Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010864","type":"entry-dictionary","title":"Intellectual disability, severe"},{"container-title":"HP:0010865","author":[{"family":"An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010865","type":"entry-dictionary","title":"Oppositional defiant disorder"},{"container-title":"HP:0010866","author":[{"family":"congenital anterior abdominal wall defect"},{"family":"An incomplete closure of the abdominal wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010866","type":"entry-dictionary","title":"Abdominal wall defect"},{"container-title":"HP:0010867","author":[{"family":"A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010867","type":"entry-dictionary","title":"Dyssynergia"},{"container-title":"HP:0010868","author":[{"family":"A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010868","type":"entry-dictionary","title":"Ocular dyssynergia"},{"container-title":"HP:0010869","author":[{"family":"A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010869","type":"entry-dictionary","title":"Asynergia"},{"container-title":"HP:0010871","author":[{"family":"ataxia, sensory"},{"family":"afferent ataxia"},{"family":"spinal ataxia"},{"family":"Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010871","type":"entry-dictionary","title":"Sensory ataxia"},{"container-title":"HP:0010872","author":[{"family":"ekg: t-wave inversion"},{"family":"An inversion of the T-wave (which is normally positive)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010872","type":"entry-dictionary","title":"T-wave inversion"},{"container-title":"HP:0010873","author":[{"family":"Atrophy of the cervical segment of the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010873","type":"entry-dictionary","title":"Cervical spinal cord atrophy"},{"container-title":"HP:0010874","author":[{"family":"tendon xanthomas"},{"family":"The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010874","type":"entry-dictionary","title":"Tendon xanthomatosis"},{"container-title":"HP:0010875","author":[{"family":"A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010875","type":"entry-dictionary","title":"Chaddock reflex"},{"container-title":"HP:0010876","author":[{"family":"serum protein abnormality"},{"family":"blood protein disease"},{"family":"An abnormal level of a circulating protein in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010876","type":"entry-dictionary","title":"Abnormality of circulating protein level"},{"container-title":"HP:0010877","author":[{"family":"A type of strabismus in which only one eye is affected. Unilateral strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010877","type":"entry-dictionary","title":"Unilateral strabismus"},{"container-title":"HP:0010878","author":[{"family":"The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010878","type":"entry-dictionary","title":"Fetal cystic hygroma"},{"container-title":"HP:0010879","author":[{"family":"Postnatal cystic hygroma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010879","type":"entry-dictionary","title":"Postnatal cystic hygroma"},{"container-title":"HP:0010880","author":[{"family":"The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010880","type":"entry-dictionary","title":"Increased nuchal translucency"},{"container-title":"HP:0010881","author":[{"family":"umbilical cord issue"},{"family":"An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010881","type":"entry-dictionary","title":"Abnormality of the umbilical cord"},{"container-title":"HP:0010882","author":[{"family":"A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010882","type":"entry-dictionary","title":"Pulmonary valve atresia"},{"container-title":"HP:0010883","author":[{"family":"aortic atresia"},{"family":"A congenital disorder of the aortic valve in which the orifice of the valve fails to develop."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010883","type":"entry-dictionary","title":"Aortic valve atresia"},{"container-title":"HP:0010884","author":[{"family":"Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010884","type":"entry-dictionary","title":"Acromelia"},{"container-title":"HP:0010885","author":[{"family":"aseptic bone necrosis"},{"family":"ischemic bone necrosis"},{"family":"osteochondronecrosis"},{"family":"osteonecrosis"},{"family":"avascular necrosis"},{"family":"bone infarction"},{"family":"A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010885","type":"entry-dictionary","title":"Aseptic necrosis"},{"container-title":"HP:0010886","author":[{"family":"osteochondrosis dissecans"},{"family":"A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010886","type":"entry-dictionary","title":"Osteochondritis Dissecans"},{"container-title":"HP:0010888","author":[{"family":"Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010888","type":"entry-dictionary","title":"Morbus Koehler"},{"container-title":"HP:0010889","author":[{"family":"kienbock's disease"},{"family":"lunatomalacia"},{"family":"Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010889","type":"entry-dictionary","title":"Morbus Kienboeck"},{"container-title":"HP:0010890","author":[{"family":"osgood schlatter disease"},{"family":"Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010890","type":"entry-dictionary","title":"Morbus Osgood-Schlatter"},{"container-title":"HP:0010891","author":[{"family":"sherman's disease"},{"family":"juvenile osteochondrosis of the spine"},{"family":"scheuermann disease"},{"family":"scheuermann kyphosis"},{"family":"calve disease"},{"family":"A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010891","type":"entry-dictionary","title":"Morbus Scheuermann"},{"container-title":"HP:0010892","author":[{"family":"Abnormality of a branched chain family amino acid metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010892","type":"entry-dictionary","title":"Abnormality of branched chain family amino acid metabolism"},{"container-title":"HP:0010893","author":[{"family":"An abnormality of L-phenylalanine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010893","type":"entry-dictionary","title":"Abnormality of phenylalanine metabolism"},{"container-title":"HP:0010894","author":[{"family":"An abnormality of a serine family amino acid metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010894","type":"entry-dictionary","title":"Abnormality of serine family amino acid metabolism"},{"container-title":"HP:0010895","author":[{"family":"An abnormality of a glycine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010895","type":"entry-dictionary","title":"Abnormality of glycine metabolism"},{"container-title":"HP:0010896","author":[{"family":"high plasma sarcosine levels"},{"family":"An elevated plasma concentration of sarcosine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010896","type":"entry-dictionary","title":"Hypersarcosinemia"},{"container-title":"HP:0010897","author":[{"family":"high urine sarcosine levels"},{"family":"An elevated urinary concentration of sarcosine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010897","type":"entry-dictionary","title":"Hypersarcosinuria"},{"container-title":"HP:0010898","author":[{"family":"An abnormality of the metabolism of sarcosine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010898","type":"entry-dictionary","title":"Abnormality of sarcosine metabolism"},{"container-title":"HP:0010899","author":[{"family":"Abnormality of a aspartate family amino acid metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010899","type":"entry-dictionary","title":"Abnormality of aspartate family amino acid metabolism"},{"container-title":"HP:0010900","author":[{"family":"Abnormality of a threonine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010900","type":"entry-dictionary","title":"Abnormality of threonine metabolism"},{"container-title":"HP:0010901","author":[{"family":"An abnormality of methionine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010901","type":"entry-dictionary","title":"Abnormality of methionine metabolism"},{"container-title":"HP:0010902","author":[{"family":"An abnormality of a glutamine family amino acid metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010902","type":"entry-dictionary","title":"Abnormality of glutamine family amino acid metabolism"},{"container-title":"HP:0010903","author":[{"family":"An abnormality of a glutamine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010903","type":"entry-dictionary","title":"Abnormality of glutamine metabolism"},{"container-title":"HP:0010904","author":[{"family":"An abnormality of a histidine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010904","type":"entry-dictionary","title":"Abnormality of histidine metabolism"},{"container-title":"HP:0010906","author":[{"family":"high blood histidine level"},{"family":"histidinemia"},{"family":"An increased concentration of histidine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010906","type":"entry-dictionary","title":"Hyperhistidinemia"},{"container-title":"HP:0010907","author":[{"family":"An abnormality of a proline metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010907","type":"entry-dictionary","title":"Abnormality of proline metabolism"},{"container-title":"HP:0010908","author":[{"family":"An abnormality of a lysine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010908","type":"entry-dictionary","title":"Abnormality of lysine metabolism"},{"container-title":"HP:0010909","author":[{"family":"An abnormality of a arginine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010909","type":"entry-dictionary","title":"Abnormality of arginine metabolism"},{"container-title":"HP:0010910","author":[{"family":"high blood valine concentration"},{"family":"An increased concentration of valine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010910","type":"entry-dictionary","title":"Hypervalinemia"},{"container-title":"HP:0010911","author":[{"family":"high blood leucine concentration"},{"family":"An increased concentration of leucine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010911","type":"entry-dictionary","title":"Hyperleucinemia"},{"container-title":"HP:0010912","author":[{"family":"An abnormality of a isoleucine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010912","type":"entry-dictionary","title":"Abnormality of isoleucine metabolism"},{"container-title":"HP:0010913","author":[{"family":"high blood isoleucine concentration"},{"family":"An increased concentration of isoleucine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010913","type":"entry-dictionary","title":"Hyperisoleucinemia"},{"container-title":"HP:0010914","author":[{"family":"An abnormality of a valine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010914","type":"entry-dictionary","title":"Abnormality of valine metabolism"},{"container-title":"HP:0010915","author":[{"family":"An abnormality of a pyruvate family amino acid metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010915","type":"entry-dictionary","title":"Abnormality of pyruvate family amino acid metabolism"},{"container-title":"HP:0010916","author":[{"family":"An abnormality of an alanine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010916","type":"entry-dictionary","title":"Abnormality of alanine metabolism"},{"container-title":"HP:0010917","author":[{"family":"An abnormality of a tyrosine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010917","type":"entry-dictionary","title":"Abnormality of tyrosine metabolism"},{"container-title":"HP:0010918","author":[{"family":"An abnormality of a cysteine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010918","type":"entry-dictionary","title":"Abnormality of cysteine metabolism"},{"container-title":"HP:0010919","author":[{"family":"An abnormality of a homocysteine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010919","type":"entry-dictionary","title":"Abnormality of homocysteine metabolism"},{"container-title":"HP:0010920","author":[{"family":"Zonular cataracts are defined to be cataracts that affect specific regions of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010920","type":"entry-dictionary","title":"Zonular cataract"},{"container-title":"HP:0010921","author":[{"family":"A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010921","type":"entry-dictionary","title":"Coralliform cataract"},{"container-title":"HP:0010922","author":[{"family":"A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010922","type":"entry-dictionary","title":"Membranous cataract"},{"container-title":"HP:0010923","author":[{"family":"A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010923","type":"entry-dictionary","title":"Anterior subcapsular cataract"},{"container-title":"HP:0010924","author":[{"family":"A cataract that affects the posterior part of the cortex of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010924","type":"entry-dictionary","title":"Posterior cortical cataract"},{"container-title":"HP:0010925","author":[{"family":"Nuclear punctate cataract"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010925","type":"entry-dictionary","title":"Nuclear punctate cataract"},{"container-title":"HP:0010926","author":[{"family":"needle-shaped cataract"},{"family":"frosted cataract"},{"family":"fasciculiform cataract"},{"family":"A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010926","type":"entry-dictionary","title":"Aculeiform cataract"},{"container-title":"HP:0010927","author":[{"family":"An abnormality of divalent inorganic cation homeostasis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010927","type":"entry-dictionary","title":"Abnormality of divalent inorganic cation homeostasis"},{"container-title":"HP:0010928","author":[{"family":"An abnormality of the metabolism of orotic acid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010928","type":"entry-dictionary","title":"Abnormality of orotic acid metabolism"},{"container-title":"HP:0010929","author":[{"family":"An abnormality of cation homeostasis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010929","type":"entry-dictionary","title":"Abnormality of cation homeostasis"},{"container-title":"HP:0010930","author":[{"family":"An abnormality of monovalent inorganic cation homeostasis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010930","type":"entry-dictionary","title":"Abnormality of monovalent inorganic cation homeostasis"},{"container-title":"HP:0010931","author":[{"family":"An abnormal concentration of sodium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010931","type":"entry-dictionary","title":"Abnormality of sodium homeostasis"},{"container-title":"HP:0010932","author":[{"family":"abnormal nucleoside levels"},{"family":"An abnormality of a nucleobase metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010932","type":"entry-dictionary","title":"Abnormality of nucleobase metabolism"},{"container-title":"HP:0010933","author":[{"family":"An abnormality of a xanthine metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010933","type":"entry-dictionary","title":"Abnormality of xanthine metabolism"},{"container-title":"HP:0010934","author":[{"family":"increased urinary xanthine"},{"family":"An increased concentration of xanthine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010934","type":"entry-dictionary","title":"Xanthinuria"},{"container-title":"HP:0010935","author":[{"family":"abnormality of the upper urinary tract"},{"family":"An abnormality of the upper urinary tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010935","type":"entry-dictionary","title":"Abnormality of the upper urinary tract"},{"container-title":"HP:0010936","author":[{"family":"An abnormality of the lower urinary tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010936","type":"entry-dictionary","title":"Abnormality of the lower urinary tract"},{"container-title":"HP:0010937","author":[{"family":"abnormality of the nasal skeleton"},{"family":"malformation of the bones of the nose"},{"family":"deformity of the nasal skeleton"},{"family":"distortion of the bones of the nose"},{"family":"malformation of the nasal skeleton"},{"family":"distortion of the nasal skeleton"},{"family":"anomaly of the nasal skeleton"},{"family":"deformity of the bones of the nose"},{"family":"An abnormality of the nasal skeleton."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010937","type":"entry-dictionary","title":"Abnormality of the nasal skeleton"},{"container-title":"HP:0010938","author":[{"family":"abnormality of the external nose"},{"family":"malformation of the external nose"},{"family":"anomaly of the external nose"},{"family":"deformity of the external nose"},{"family":"An abnormality of the external nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010938","type":"entry-dictionary","title":"Abnormality of the external nose"},{"container-title":"HP:0010939","author":[{"family":"malformation of the nasal bones"},{"family":"anomaly of the nasal bones"},{"family":"deformity of the nasal bones"},{"family":"abnormality of the nasal bone"},{"family":"An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010939","type":"entry-dictionary","title":"Abnormality of the nasal bone"},{"container-title":"HP:0010940","author":[{"family":"Absence or underdevelopment of the nasal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010940","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the nasal bone"},{"container-title":"HP:0010941","author":[{"family":"failure of development of the nasal bone"},{"family":"lack of development of the nasal bone"},{"family":"missing nasal bone"},{"family":"agenesis of the nasal bone"},{"family":"absence of the nasal bone"},{"family":"Absence of the nasal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010941","type":"entry-dictionary","title":"Aplasia of the nasal bone"},{"container-title":"HP:0010942","author":[{"family":"A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010942","type":"entry-dictionary","title":"Echogenic intracardiac focus"},{"container-title":"HP:0010943","author":[{"family":"echogenic bowel"},{"family":"Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010943","type":"entry-dictionary","title":"Echogenic fetal bowel"},{"container-title":"HP:0010944","author":[{"family":"An abnormality of the renal pelvis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010944","type":"entry-dictionary","title":"Abnormality of the renal pelvis"},{"container-title":"HP:0010945","author":[{"family":"fetal renal pelvic dilatation"},{"family":"mild fetal hydronephrosis"},{"family":"Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010945","type":"entry-dictionary","title":"Fetal pyelectasis"},{"container-title":"HP:0010946","author":[{"family":"The presence of dilatation of the renal pelvis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010946","type":"entry-dictionary","title":"Dilatation of the renal pelvis"},{"container-title":"HP:0010947","author":[{"family":"An first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010947","type":"entry-dictionary","title":"Abnormality of ductus venosus blood flow"},{"container-title":"HP:0010948","author":[{"family":"abnormality of the fetal circulation system"},{"family":"An abnormality of the fetal circulation system or fetal echocardiogram."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010948","type":"entry-dictionary","title":"Abnormality of the fetal cardiovascular system"},{"container-title":"HP:0010949","author":[{"family":"An first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010949","type":"entry-dictionary","title":"Abnormality of umbilical vein blood flow"},{"container-title":"HP:0010950","author":[{"family":"An abnormality of the fourth ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010950","type":"entry-dictionary","title":"Abnormality of the fourth ventricle"},{"container-title":"HP:0010951","author":[{"family":"An abnormality of the third ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010951","type":"entry-dictionary","title":"Abnormality of the third ventricle"},{"container-title":"HP:0010952","author":[{"family":"A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (pmid:16100637)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010952","type":"entry-dictionary","title":"Mild fetal ventriculomegaly"},{"container-title":"HP:0010953","author":[{"family":"A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010953","type":"entry-dictionary","title":"Noncommunicating hydrocephalus"},{"container-title":"HP:0010954","author":[{"family":"hypoplastic right heart syndrome"},{"family":"underdeveloped right heart"},{"family":"Underdevelopment of the right-sided structures of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010954","type":"entry-dictionary","title":"Hypoplastic right heart"},{"container-title":"HP:0010955","author":[{"family":"The presence of a dilated urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010955","type":"entry-dictionary","title":"Dilatation of the bladder"},{"container-title":"HP:0010956","author":[{"family":"Fetal megacystis is an abnormally enlarged bladder identified at any gestational age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010956","type":"entry-dictionary","title":"Fetal megacystis"},{"container-title":"HP:0010957","author":[{"family":"posterior urethral valves"},{"family":"A developmental defect resulting in an obstructing membrane in the posterior male urethra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010957","type":"entry-dictionary","title":"Congenital posterior urethral valve"},{"container-title":"HP:0010958","author":[{"family":"A bilateral form of agenesis of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010958","type":"entry-dictionary","title":"Bilateral renal agenesis"},{"container-title":"HP:0010959","author":[{"family":"cystic adenomatoid lung disease"},{"family":"ccam"},{"family":"congenital cystic disease of the lung"},{"family":"Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010959","type":"entry-dictionary","title":"Congenital cystic adenomatoid malformation of the lung"},{"container-title":"HP:0010960","author":[{"family":"The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010960","type":"entry-dictionary","title":"Bronchopulmonary sequestration"},{"container-title":"HP:0010961","author":[{"family":"A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010961","type":"entry-dictionary","title":"Intralobar sequestration"},{"container-title":"HP:0010962","author":[{"family":"A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010962","type":"entry-dictionary","title":"Extralobar sequestration"},{"container-title":"HP:0010963","author":[{"family":"By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010963","type":"entry-dictionary","title":"Absence of stomach bubble on fetal sonography"},{"container-title":"HP:0010964","author":[{"family":"An abnormality of long-chain fatty acid metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010964","type":"entry-dictionary","title":"Abnormality of long-chain fatty-acid metabolism"},{"container-title":"HP:0010965","author":[{"family":"An abnormality of phytanic acid metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010965","type":"entry-dictionary","title":"Abnormality of phytanic acid metabolism"},{"container-title":"HP:0010966","author":[{"family":"abnormality of fatty acid anion"},{"family":"An abnormality of fatty acid anion metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010966","type":"entry-dictionary","title":"Abnormality of fatty-acid anion metabolism"},{"container-title":"HP:0010967","author":[{"family":"carnitine levels abnormal"},{"family":"An abnormality of carnitine metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010967","type":"entry-dictionary","title":"Abnormality of carnitine metabolism"},{"container-title":"HP:0010968","author":[{"family":"An abnormality of liposaccharide metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010968","type":"entry-dictionary","title":"Abnormality of liposaccharide metabolism"},{"container-title":"HP:0010969","author":[{"family":"An abnormality of glycolipid metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010969","type":"entry-dictionary","title":"Abnormality of glycolipid metabolism"},{"container-title":"HP:0010970","author":[{"family":"An abnormality of an erythrocyte cell surface molecule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010970","type":"entry-dictionary","title":"Blood group antigen abnormality"},{"container-title":"HP:0010971","author":[{"family":"Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010971","type":"entry-dictionary","title":"Absence of Lutheran antigen on erythrocytes"},{"container-title":"HP:0010972","author":[{"family":"dyserythropoietic anemia"},{"family":"anemia, dyserythropoietic"},{"family":"ineffective erythropoiesis"},{"family":"defective erythropoiesis"},{"family":"A kind of anemia characterized by inadequate production of erythrocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010972","type":"entry-dictionary","title":"Anemia of inadequate production"},{"container-title":"HP:0010974","author":[{"family":"An abnormality of myeloid leukocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010974","type":"entry-dictionary","title":"Abnormality of myeloid leukocytes"},{"container-title":"HP:0010975","author":[{"family":"abnormality of b cell numbers"},{"family":"abnormal number of b cells"},{"family":"abnormal numbers of b cells"},{"family":"A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010975","type":"entry-dictionary","title":"Abnormality of B cell count"},{"container-title":"HP:0010976","author":[{"family":"reduction in b cell number"},{"family":"b cell lymphopenia"},{"family":"low b cell count"},{"family":"An abnormal decrease from the normal count of B cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010976","type":"entry-dictionary","title":"B lymphocytopenia"},{"container-title":"HP:0010977","author":[{"family":"An abnormality of phagocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010977","type":"entry-dictionary","title":"Abnormality of phagocytes"},{"container-title":"HP:0010978","author":[{"family":"A functional abnormality of the immune system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010978","type":"entry-dictionary","title":"Abnormality of immune system physiology"},{"container-title":"HP:0010979","author":[{"family":"An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010979","type":"entry-dictionary","title":"Abnormality of the level of lipoprotein cholesterol"},{"container-title":"HP:0010980","author":[{"family":"An abnormal increase in the level of lipoprotein cholesterol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0010980","type":"entry-dictionary","title":"Hyperlipoproteinemia"},{"container-title":"HP:0010981","author":[{"family":"lack of fat in blood"},{"family":"An abnormal decrease 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Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011034","type":"entry-dictionary","title":"Amyloidosis"},{"container-title":"HP:0011035","author":[{"family":"An abnormality of the cortex of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011035","type":"entry-dictionary","title":"Abnormality of renal cortex morphology"},{"container-title":"HP:0011036","author":[{"family":"An altered ability of the kidneys to void urine and\/or specific substances."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011036","type":"entry-dictionary","title":"Abnormality of renal excretion"},{"container-title":"HP:0011037","author":[{"family":"A decreased rate of urine production."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011037","type":"entry-dictionary","title":"Decreased urine output"},{"container-title":"HP:0011038","author":[{"family":"An abnormality of renal absorption."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011038","type":"entry-dictionary","title":"Abnormality of renal resorption"},{"container-title":"HP:0011039","author":[{"family":"abnormal helices"},{"family":"helix abnormal"},{"family":"An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011039","type":"entry-dictionary","title":"Abnormality of the helix"},{"container-title":"HP:0011040","author":[{"family":"An abnormality of the intrahepatic bile duct."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011040","type":"entry-dictionary","title":"Abnormality of the intrahepatic bile duct"},{"container-title":"HP:0011041","author":[{"family":"absent\/underdeveloped cervical spine"},{"family":"absent\/small cervical spine"},{"family":"Aplasia or developmental hypoplasia of the cervical vertebral column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011041","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the cervical spine"},{"container-title":"HP:0011042","author":[{"family":"An abnormal concentration of 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incisor"},{"family":"missing deciduous mandibular central incisor"},{"family":"absence of deciduous mandibular central incisor"},{"family":"missing lower central incisor milk tooth"},{"family":"Agenesis of lower primary incisor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011047","type":"entry-dictionary","title":"Agenesis of primary mandibular central incisor"},{"container-title":"HP:0011048","author":[{"family":"agenesis of adult mandibular central incisor"},{"family":"missing adult lower central incisor"},{"family":"missing permanent mandibular central incisor"},{"family":"absence of permanent lower central incisor"},{"family":"failure of development of permanent mandibular central incisor"},{"family":"absence of permanent lower front tooth"},{"family":"absence of permanent mandibular central incisor"},{"family":"missing permanent lower front tooth"},{"family":"missing permanent lower central incisor"},{"family":"Agenesis of lower secondary incisor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011048","type":"entry-dictionary","title":"Agenesis of permanent mandibular central incisor"},{"container-title":"HP:0011049","author":[{"family":"absence of deciduous maxillary lateral incisor"},{"family":"failure of development of primary maxillary lateral incisor"},{"family":"failure of development of deciduous maxillary lateral incisor"},{"family":"agenesis of deciduous maxillary lateral incisor"},{"family":"missing primary maxillary lateral incisor"},{"family":"absence of primary maxillary lateral incisor"},{"family":"missing deciduous maxillary lateral incisor"},{"family":"Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011049","type":"entry-dictionary","title":"Agenesis of primary maxillary lateral incisor"},{"container-title":"HP:0011050","author":[{"family":"failure of development of permanent maxillary lateral incisor"},{"family":"missing permanent upper lateral incisor"},{"family":"absence of permanent maxillary lateral incisor"},{"family":"failure of development of permanent upper lateral incisor"},{"family":"missing permanent maxillary lateral incisor"},{"family":"agenesis of permanent upper lateral incisor"},{"family":"Agenesis of one or more upper lateral secondary incisor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011050","type":"entry-dictionary","title":"Agenesis of permanent maxillary lateral incisor"},{"container-title":"HP:0011051","author":[{"family":"missing bicuspid"},{"family":"failure of development of premolar"},{"family":"agenesis of bicuspid"},{"family":"absence of premolar"},{"family":"missing premolar"},{"family":"failure of development of bicuspid"},{"family":"absence of bicuspid"},{"family":"Agenesis of premolar tooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011051","type":"entry-dictionary","title":"Agenesis of 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molar"},{"container-title":"HP:0011056","author":[{"family":"failure of development of first permanent molar"},{"family":"missing six year molar"},{"family":"agenesis of six year molar"},{"family":"failure of development of six year molar"},{"family":"missing first permanent molar"},{"family":"absence of first permanent molar"},{"family":"absence of six year molar"},{"family":"Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011056","type":"entry-dictionary","title":"Agenesis of first permanent molar tooth"},{"container-title":"HP:0011057","author":[{"family":"absence of twelve year molar"},{"family":"failure of development of second permanent molar"},{"family":"missing twelve year molar"},{"family":"agenesis of twelve year molar"},{"family":"missing second permanent molar"},{"family":"absence of second permanent molar"},{"family":"failure of development of twelve year molar"},{"family":"Agenesis of either mandibular second permanent molar or maxillary second permanent molar."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011057","type":"entry-dictionary","title":"Agenesis of second permanent molar"},{"container-title":"HP:0011058","author":[{"family":"widespread gum disease"},{"family":"generalized gum disease"},{"family":"generalized periodontal disease"},{"family":"A generalized form of periodontitis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011058","type":"entry-dictionary","title":"Generalized periodontitis"},{"container-title":"HP:0011059","author":[{"family":"limited area of gum disease"},{"family":"localized periodontal disease"},{"family":"localized gum disease"},{"family":"A localized form of periodontitis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011059","type":"entry-dictionary","title":"Localized periodontitis"},{"container-title":"HP:0011060","author":[{"family":"dentinogenesis imperfecta of baby teeth"},{"family":"dentin dysplasia"},{"family":"Developmental dysplasia of dentin affecting only the primary dentition."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011060","type":"entry-dictionary","title":"Dentinogenesis imperfecta limited to primary teeth"},{"container-title":"HP:0011061","author":[{"family":"abnormality of tooth part"},{"family":"abnormality of tooth structure"},{"family":"An abnormality of the structure or composition of the teeth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011061","type":"entry-dictionary","title":"Abnormality of dental structure"},{"container-title":"HP:0011062","author":[{"family":"abnormality of position of incisors"},{"family":"abnormality of alignment of incisors"},{"family":"misalignment of incisors"},{"family":"crooked front teeth"},{"family":"crooked incisors"},{"family":"malposition of incisors"},{"family":"Misaligned incisor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011062","type":"entry-dictionary","title":"Misalignment of 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That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011123","type":"entry-dictionary","title":"Inflammatory abnormality of the skin"},{"container-title":"HP:0011124","author":[{"family":"An abnormality of the morphology of the epidermis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011124","type":"entry-dictionary","title":"Abnormality of epidermal morphology"},{"container-title":"HP:0011125","author":[{"family":"An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011125","type":"entry-dictionary","title":"Abnormality of dermal melanosomes"},{"container-title":"HP:0011126","author":[{"family":"renal ptosis"},{"family":"floating kidney"},{"family":"A significant descent of the kidney as the patient moves from the supine to the erect position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011126","type":"entry-dictionary","title":"Nephroptosis"},{"container-title":"HP:0011127","author":[{"family":"eczema around the mouth"},{"family":"A type of eczema that occurs in the lips and perioral area."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011127","type":"entry-dictionary","title":"Perioral eczema"},{"container-title":"HP:0011128","author":[{"family":"A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011128","type":"entry-dictionary","title":"Acute esophageal necrosis"},{"container-title":"HP:0011129","author":[{"family":"bilateral fetal pyelectasia"},{"family":"A bilateral form of fetal pyelectasis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011129","type":"entry-dictionary","title":"Bilateral fetal pyelectasis"},{"container-title":"HP:0011130","author":[{"family":"Any abnormality of the morphology of the major calices or minor calices of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011130","type":"entry-dictionary","title":"Abnormality of renal calyx morphology"},{"container-title":"HP:0011131","author":[{"family":"The presence of a rash (change of color and texture) of the perianal skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011131","type":"entry-dictionary","title":"Perianal rash"},{"container-title":"HP:0011132","author":[{"family":"A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. 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three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011138","type":"entry-dictionary","title":"Abnormality of skin adnexa morphology"},{"container-title":"HP:0011139","author":[{"family":"gastric duplication cyst"},{"family":"Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011139","type":"entry-dictionary","title":"Gastric duplication"},{"container-title":"HP:0011140","author":[{"family":"A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011140","type":"entry-dictionary","title":"Gastrointestinal duplication"},{"container-title":"HP:0011141","author":[{"family":"A type of cataract (opacification of the lens) that forms during the course of aging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011141","type":"entry-dictionary","title":"Age-related cataract"},{"container-title":"HP:0011142","author":[{"family":"A type of age-related cataract that primarily affects the nucleus of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011142","type":"entry-dictionary","title":"Age-related nuclear cataract"},{"container-title":"HP:0011143","author":[{"family":"A type of age-related cataract that primarily affects the cortex of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011143","type":"entry-dictionary","title":"Age-related cortical cataract"},{"container-title":"HP:0011144","author":[{"family":"A type of age-related cataract consisting of granular 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urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011280","type":"entry-dictionary","title":"Abnormality of urine calcium concentration"},{"container-title":"HP:0011281","author":[{"family":"An abnormal level of urinary catecholamine concentration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011281","type":"entry-dictionary","title":"Abnormality of urine catecholamine concentration"},{"container-title":"HP:0011282","author":[{"family":"abnormality of the hindbrain"},{"family":"abnormal shape of hindbrain"},{"family":"An abnormality of the hindbrain, also known as the rhombencephalon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011282","type":"entry-dictionary","title":"Abnormality of hindbrain morphology"},{"container-title":"HP:0011283","author":[{"family":"An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011283","type":"entry-dictionary","title":"Abnormality of the metencephalon"},{"container-title":"HP:0011284","author":[{"family":"A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011284","type":"entry-dictionary","title":"Short-segment aganglionic megacolon"},{"container-title":"HP:0011285","author":[{"family":"A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011285","type":"entry-dictionary","title":"Long-segment aganglionic megacolon"},{"container-title":"HP:0011286","author":[{"family":"A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011286","type":"entry-dictionary","title":"Total colonic aganglionosis"},{"container-title":"HP:0011287","author":[{"family":"EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011287","type":"entry-dictionary","title":"EEG with occipital sharp slow waves"},{"container-title":"HP:0011288","author":[{"family":"EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011288","type":"entry-dictionary","title":"EEG with parietal sharp slow waves"},{"container-title":"HP:0011289","author":[{"family":"EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011289","type":"entry-dictionary","title":"EEG with temporal sharp slow waves"},{"container-title":"HP:0011290","author":[{"family":"EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011290","type":"entry-dictionary","title":"EEG with frontal sharp slow waves"},{"container-title":"HP:0011291","author":[{"family":"EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011291","type":"entry-dictionary","title":"EEG with central sharp slow waves"},{"container-title":"HP:0011292","author":[{"family":"EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011292","type":"entry-dictionary","title":"EEG with occipital sharp waves"},{"container-title":"HP:0011293","author":[{"family":"EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011293","type":"entry-dictionary","title":"EEG with central sharp waves"},{"container-title":"HP:0011294","author":[{"family":"EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011294","type":"entry-dictionary","title":"EEG with frontal sharp waves"},{"container-title":"HP:0011295","author":[{"family":"EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011295","type":"entry-dictionary","title":"EEG with parietal sharp waves"},{"container-title":"HP:0011296","author":[{"family":"EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011296","type":"entry-dictionary","title":"EEG with temporal sharp waves"},{"container-title":"HP:0011297","author":[{"family":"abnormality of fingers or toes"},{"family":"digital anomalies"},{"family":"A morphological abnormality of a digit, i.e., of a finger or toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011297","type":"entry-dictionary","title":"Abnormality 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fibula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011301","type":"entry-dictionary","title":"Absent foot"},{"container-title":"HP:0011302","author":[{"family":"long palm"},{"family":"For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011302","type":"entry-dictionary","title":"Long palm"},{"container-title":"HP:0011303","author":[{"family":"The contour of the foot in lateral profile has a convex shape."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011303","type":"entry-dictionary","title":"Convex contour of sole"},{"container-title":"HP:0011304","author":[{"family":"broad thumbs"},{"family":"broad phalanges of the thumb"},{"family":"wide\/broad thumb phalanges"},{"family":"Increased thumb width without increased dorso-ventral dimension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011304","type":"entry-dictionary","title":"Broad thumb"},{"container-title":"HP:0011305","author":[{"family":"hypophalangy of toes"},{"family":"partial absence of toe"},{"family":"The absence of a phalangeal segment of a toe or hallux."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011305","type":"entry-dictionary","title":"Partial absence of toe"},{"container-title":"HP:0011307","author":[{"family":"splayed toes"},{"family":"Divergence of digits along the anteroposterior axis (in the plane of the sole)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011307","type":"entry-dictionary","title":"Splayed toes"},{"container-title":"HP:0011308","author":[{"family":"slender toe"},{"family":"narrow toe"},{"family":"Digits are disproportionately narrow (reduced girth) for the hand\/foot size or build of the individual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011308","type":"entry-dictionary","title":"Slender toe"},{"container-title":"HP:0011309","author":[{"family":"tapering toes"},{"family":"tapered toe"},{"family":"The gradual reduction in girth of the digit from proximal to distal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011309","type":"entry-dictionary","title":"Tapered toe"},{"container-title":"HP:0011310","author":[{"family":"transitional palmar crease"},{"family":"bridged palm line"},{"family":"A crease that connects the proximal and distal transverse palmar creases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011310","type":"entry-dictionary","title":"Bridged palmar crease"},{"container-title":"HP:0011311","author":[{"family":"Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011311","type":"entry-dictionary","title":"Sydney crease"},{"container-title":"HP:0011312","author":[{"family":"fused nails"},{"family":"A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011312","type":"entry-dictionary","title":"Fused nails"},{"container-title":"HP:0011313","author":[{"family":"narrow nail"},{"family":"Decreased width of nail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011313","type":"entry-dictionary","title":"Narrow nail"},{"container-title":"HP:0011314","author":[{"family":"abnormal shape of long bone"},{"family":"abnormality of the tubular bones"},{"family":"An abnormality of size or shape of the long bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011314","type":"entry-dictionary","title":"Abnormality of long bone morphology"},{"container-title":"HP:0011315","author":[{"family":"unilateral coronal suture synostosis"},{"family":"unilateral coronal suture craniosynostosis"},{"family":"unilateral coronal craniosynostosis"},{"family":"Synostosis affecting only one of the coronal sutures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011315","type":"entry-dictionary","title":"Unicoronal synostosis"},{"container-title":"HP:0011316","author":[{"family":"Synostosis affecting only the left coronal suture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011316","type":"entry-dictionary","title":"Left unicoronal synostosis"},{"container-title":"HP:0011317","author":[{"family":"Unicoronal synostosis affecting only the right coronal suture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011317","type":"entry-dictionary","title":"Right unicoronal synostosis"},{"container-title":"HP:0011318","author":[{"family":"bilateral coronal craniosynostosis"},{"family":"bilateral coronal suture synostosis"},{"family":"bilateral coronal suture craniosynostosis"},{"family":"Synostosis affecting the right and the left coronal suture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011318","type":"entry-dictionary","title":"Bicoronal synostosis"},{"container-title":"HP:0011319","author":[{"family":"bilateral lambdoid suture synostosis"},{"family":"bilateral lambdoid craniosynostosis"},{"family":"Premature synostosis of both lambdoid sutures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011319","type":"entry-dictionary","title":"Bilambdoid synostosis"},{"container-title":"HP:0011320","author":[{"family":"unilateral lambdoid suture synostosis"},{"family":"unilateral lambdoid craniosynostosis"},{"family":"Premature synostosis of only one lambdoid suture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011320","type":"entry-dictionary","title":"Unilambdoid synostosis"},{"container-title":"HP:0011321","author":[{"family":"Premature synostosis of only the left lambdoid suture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011321","type":"entry-dictionary","title":"Left unilambdoid synostosis"},{"container-title":"HP:0011322","author":[{"family":"Premature synostosis of only the right lambdoid 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The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011397","type":"entry-dictionary","title":"Abnormality of the dorsal column of the spinal cord"},{"container-title":"HP:0011398","author":[{"family":"Reduced muscle tone secondary to an abnormality of the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011398","type":"entry-dictionary","title":"Central hypotonia"},{"container-title":"HP:0011399","author":[{"family":"tibialis muscle degeneration"},{"family":"Atrophy of the tibialis muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011399","type":"entry-dictionary","title":"Tibialis atrophy"},{"container-title":"HP:0011400","author":[{"family":"abnormal formation of myelin sheaths"},{"family":"An abnormality of myelination of nerves in the central nervous 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stature"},{"container-title":"HP:0011408","author":[{"family":"Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011408","type":"entry-dictionary","title":"Moderate intrauterine growth retardation"},{"container-title":"HP:0011409","author":[{"family":"Abnormality of placental membranes"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011409","type":"entry-dictionary","title":"Abnormality of placental membranes"},{"container-title":"HP:0011410","author":[{"family":"caesarian section"},{"family":"Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011410","type":"entry-dictionary","title":"Caesarian section"},{"container-title":"HP:0011411","author":[{"family":"forceps delivery"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011411","type":"entry-dictionary","title":"Forceps delivery"},{"container-title":"HP:0011412","author":[{"family":"vacuum extraction"},{"family":"vacuum-assisted vaginal delivery"},{"family":"Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011412","type":"entry-dictionary","title":"Ventouse delivery"},{"container-title":"HP:0011413","author":[{"family":"Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011413","type":"entry-dictionary","title":"Shoulder dystocia"},{"container-title":"HP:0011414","author":[{"family":"hydrops of the placenta"},{"family":"An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011414","type":"entry-dictionary","title":"Hydropic placenta"},{"container-title":"HP:0011415","author":[{"family":"Calcified placenta"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011415","type":"entry-dictionary","title":"Calcified placenta"},{"container-title":"HP:0011416","author":[{"family":"placental thromboembolism"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011416","type":"entry-dictionary","title":"Placental infarction"},{"container-title":"HP:0011417","author":[{"family":"long umbilical cord"},{"family":"Increased length of the umbilical cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011417","type":"entry-dictionary","title":"Long umbilical cord"},{"container-title":"HP:0011418","author":[{"family":"vasa previa"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011418","type":"entry-dictionary","title":"Abnormal insertion of umbilical cord"},{"container-title":"HP:0011419","author":[{"family":"abruptio placentae"},{"family":"Separation of the placenta from the uterus wall before delivery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011419","type":"entry-dictionary","title":"Placental abruption"},{"container-title":"HP:0011420","author":[{"family":"The age group when the cessation of life happens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011420","type":"entry-dictionary","title":"Age of death"},{"container-title":"HP:0011421","author":[{"family":"death in adolescence"},{"family":"Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011421","type":"entry-dictionary","title":"Death in adolescence"},{"container-title":"HP:0011422","author":[{"family":"An abnormality of chloride homeostasis or concentration in the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011422","type":"entry-dictionary","title":"Abnormality of chloride homeostasis"},{"container-title":"HP:0011423","author":[{"family":"An abnormally increased chloride concentration in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011423","type":"entry-dictionary","title":"Hyperchloremia"},{"container-title":"HP:0011424","author":[{"family":"hyperzincemia"},{"family":"An increased consentration of zinc in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011424","type":"entry-dictionary","title":"Increased serum zinc"},{"container-title":"HP:0011425","author":[{"family":"An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011425","type":"entry-dictionary","title":"Fetal ultrasound soft marker"},{"container-title":"HP:0011426","author":[{"family":"Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts (3 mm or more) found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (pmid:16100637)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011426","type":"entry-dictionary","title":"Fetal choroid plexus cysts"},{"container-title":"HP:0011427","author":[{"family":"The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior\/posterior diameter is taken between the inferior\/posterior surface of the vemis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior\/posterior diameter of 10 mm or more (pmid:16100637)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011427","type":"entry-dictionary","title":"Enlarged fetal cisterna magna"},{"container-title":"HP:0011428","author":[{"family":"short fetal thigh bone length"},{"family":"A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011428","type":"entry-dictionary","title":"Short fetal femur length"},{"container-title":"HP:0011429","author":[{"family":"short fetal long bone in upper arm length"},{"family":"A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011429","type":"entry-dictionary","title":"Short fetal humerus length"},{"container-title":"HP:0011430","author":[{"family":"underdeveloped fetal nose bone"},{"family":"On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (pmid:16100637)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011430","type":"entry-dictionary","title":"Hypoplasia of fetal nasal bone"},{"container-title":"HP:0011431","author":[{"family":"fetal pinkie finger curvature"},{"family":"fetal little finger curvature"},{"family":"fetal pinky finger curvature"},{"family":"Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (pmid:16100637)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011431","type":"entry-dictionary","title":"Fetal fifth finger clinodactyly"},{"container-title":"HP:0011432","author":[{"family":"An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011432","type":"entry-dictionary","title":"High maternal serum alpha-fetoprotein"},{"container-title":"HP:0011433","author":[{"family":"high maternal serum hcg"},{"family":"An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011433","type":"entry-dictionary","title":"High maternal serum chorionic gonadotropin"},{"container-title":"HP:0011434","author":[{"family":"low maternal serum hcg"},{"family":"An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011434","type":"entry-dictionary","title":"Low maternal serum chorionic gonadotropin"},{"container-title":"HP:0011435","author":[{"family":"An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011435","type":"entry-dictionary","title":"Low maternal serum PAPP-A"},{"container-title":"HP:0011436","author":[{"family":"An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011436","type":"entry-dictionary","title":"Abnormal maternal serum screening"},{"container-title":"HP:0011437","author":[{"family":"A medical history of a fetus or child born to a mother with an autoimmune disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011437","type":"entry-dictionary","title":"Maternal autoimmune disease"},{"container-title":"HP:0011438","author":[{"family":"A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011438","type":"entry-dictionary","title":"Maternal teratogenic exposure"},{"container-title":"HP:0011439","author":[{"family":"Rhabdomyolysis induced by anesthesia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011439","type":"entry-dictionary","title":"Anesthetic-induced rhabdomylosis"},{"container-title":"HP:0011440","author":[{"family":"Rhabdomyolysis induced by intake of alcohol."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011440","type":"entry-dictionary","title":"Alcohol-induced rhabdomyolysis"},{"container-title":"HP:0011441","author":[{"family":"abnormality of the myencephalon"},{"family":"An abnormality of the medulla oblongata, the lower half of the brainstem."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011441","type":"entry-dictionary","title":"Abnormality of the medulla oblongata"},{"container-title":"HP:0011442","author":[{"family":"An anomaly of the control or production of movement in the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011442","type":"entry-dictionary","title":"Abnormality of central motor function"},{"container-title":"HP:0011443","author":[{"family":"coordination issue"},{"family":"abnormality of coordination"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011443","type":"entry-dictionary","title":"Abnormality of coordination"},{"container-title":"HP:0011444","author":[{"family":"A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011444","type":"entry-dictionary","title":"Decorticate rigidity"},{"container-title":"HP:0011445","author":[{"family":"dyskinetic cerebral palsy"},{"family":"A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011445","type":"entry-dictionary","title":"Athetoid cerebral palsy"},{"container-title":"HP:0011446","author":[{"family":"Cognitive, psychiatric or memory anomaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011446","type":"entry-dictionary","title":"Abnormality of higher mental function"},{"container-title":"HP:0011447","author":[{"family":"pelger-huet anomaly"},{"family":"Hyposegmented (hypolobulated) or bilobed neutrophil nuclei."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011447","type":"entry-dictionary","title":"Hyposegmentation of neutrophil nuclei"},{"container-title":"HP:0011448","author":[{"family":"Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011448","type":"entry-dictionary","title":"Ankle clonus"},{"container-title":"HP:0011449","author":[{"family":"patellar clonus"},{"family":".Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011449","type":"entry-dictionary","title":"Knee clonus"},{"container-title":"HP:0011450","author":[{"family":"central nervous system infection"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011450","type":"entry-dictionary","title":"CNS infection"},{"container-title":"HP:0011451","author":[{"family":"congenital small head circumference"},{"family":"congenital decreased head circumference"},{"family":"small head present at birth"},{"family":"small head circumference present at birth"},{"family":"small cranium present at birth"},{"family":"microcephaly present at birth"},{"family":"head circumference small for gestational age"},{"family":"small skull present at birth"},{"family":"congenital small skull"},{"family":"decreased head circumference present at birth"},{"family":"Microcephaly (HP:0000252) that is present already at the time of birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011451","type":"entry-dictionary","title":"Congenital microcephaly"},{"container-title":"HP:0011452","author":[{"family":"functional abnormality of the middle ear"},{"family":"An abnormality of the function of the middle ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011452","type":"entry-dictionary","title":"Functional abnormality of the middle ear"},{"container-title":"HP:0011453","author":[{"family":"An abnormality of the incus, an ossicle in the middle ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011453","type":"entry-dictionary","title":"Abnormality of the incus"},{"container-title":"HP:0011454","author":[{"family":"An abnormality of the malleus, an ossicle in the middle ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011454","type":"entry-dictionary","title":"Abnormality of the malleus"},{"container-title":"HP:0011455","author":[{"family":"Aplasia of the malleus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011455","type":"entry-dictionary","title":"Absent malleus"},{"container-title":"HP:0011456","author":[{"family":"Aplasia of the stapes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011456","type":"entry-dictionary","title":"Absent stapes"},{"container-title":"HP:0011457","author":[{"family":"eyelashes fell out"},{"family":"missing eyelashes"},{"family":"loss of eyelashes"},{"family":"milphosis"},{"family":"ciliary madarosis"},{"family":"This term refers to the loss of eyelashes that were previously present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011457","type":"entry-dictionary","title":"Loss of eyelashes"},{"container-title":"HP:0011458","author":[{"family":"Abdominal symptom"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011458","type":"entry-dictionary","title":"Abdominal symptom"},{"container-title":"HP:0011459","author":[{"family":"The presence of a carcinoma of the esophagus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011459","type":"entry-dictionary","title":"Esophageal carcinoma"},{"container-title":"HP:0011460","author":[{"family":"Onset of disease at up to 8 weeks of gestation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011460","type":"entry-dictionary","title":"Embryonal onset"},{"container-title":"HP:0011461","author":[{"family":"Onset prior to birth but after 8 weeks of gestation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011461","type":"entry-dictionary","title":"Fetal onset"},{"container-title":"HP:0011462","author":[{"family":"Onset of disease at the age of between 16 and 40 years."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011462","type":"entry-dictionary","title":"Young adult onset"},{"container-title":"HP:0011463","author":[{"family":"Onset of disease at the age of between 1 and 5 years."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011463","type":"entry-dictionary","title":"Childhood onset"},{"container-title":"HP:0011464","author":[{"family":"A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011464","type":"entry-dictionary","title":"Aganglionosis of the small intestine"},{"container-title":"HP:0011465","author":[{"family":"A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011465","type":"entry-dictionary","title":"Duodenal aganglionosis"},{"container-title":"HP:0011466","author":[{"family":"absent\/small gallbladder"},{"family":"absent\/underdeveloped gallbladder"},{"family":"Absence or underdevelopment of the gallbladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011466","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the gallbladder"},{"container-title":"HP:0011467","author":[{"family":"aplasia of the gallbladder"},{"family":"agenesis of the gallbladder"},{"family":"absent gallbladder"},{"family":"A developmental defect in which the gallbladder fails to form."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011467","type":"entry-dictionary","title":"Absent gallbladder"},{"container-title":"HP:0011468","author":[{"family":"cramping of facial muscles"},{"family":"mimic spasms"},{"family":"facial spasms"},{"family":"myoclonus of facial muscles"},{"family":"involuntary facial muscle spasms"},{"family":"spasms of facial muscles"},{"family":"jerking of facial muscles"},{"family":"muscle spasm of face"},{"family":"twitching of facial muscles"},{"family":"facial tics"},{"family":"Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011468","type":"entry-dictionary","title":"Facial tics"},{"container-title":"HP:0011469","author":[{"family":"Regurgitation of milk through the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011469","type":"entry-dictionary","title":"Nasal regurgitation"},{"container-title":"HP:0011470","author":[{"family":"Feeding problem necessitating nasogastric tube feeding."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011470","type":"entry-dictionary","title":"Nasogastric tube feeding in infancy"},{"container-title":"HP:0011471","author":[{"family":"peg-fed in infancy"},{"family":"Feeding problem necessitating gastrostomy tube feeding."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011471","type":"entry-dictionary","title":"Gastrostomy tube feeding in infancy"},{"container-title":"HP:0011472","author":[{"family":"abnormal shape of small intestinal villus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011472","type":"entry-dictionary","title":"Abnormality of small intestinal villus morphology"},{"container-title":"HP:0011473","author":[{"family":"variable degree of villous atrophy"},{"family":"small intestine biopsy shows villous atrophy"},{"family":"duodenal villous atrophy"},{"family":"atrophy of small intestinal villi"},{"family":"villous degeneration"},{"family":"The enteric villi are atrophic or absent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011473","type":"entry-dictionary","title":"Villous atrophy"},{"container-title":"HP:0011474","author":[{"family":"Sensorineural hearing impairment with childhood onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011474","type":"entry-dictionary","title":"Childhood onset sensorineural hearing impairment"},{"container-title":"HP:0011475","author":[{"family":"Persistence of the stapedial artery, which normally regresses during embryonic life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011475","type":"entry-dictionary","title":"Persistent stapedial artery"},{"container-title":"HP:0011476","author":[{"family":"Complete loss of hearing related to a sensorineural defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011476","type":"entry-dictionary","title":"Profound sensorineural hearing impairment"},{"container-title":"HP:0011477","author":[{"family":"In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011477","type":"entry-dictionary","title":"Upbeat nystagmus"},{"container-title":"HP:0011478","author":[{"family":"complete anophthalmia"},{"family":"total anophthalmia"},{"family":"completely missing eyeball"},{"family":"Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011478","type":"entry-dictionary","title":"True anophthalmia"},{"container-title":"HP:0011479","author":[{"family":"abnormality of the lacrimal punctum"},{"family":"An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011479","type":"entry-dictionary","title":"Abnormal lacrimal punctum morphology"},{"container-title":"HP:0011480","author":[{"family":"unilateral nanophthalmos"},{"family":"abnormally small eyeball on one side"},{"family":"A developmental anomaly characterized by abnormal smallness of one eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011480","type":"entry-dictionary","title":"Unilateral microphthalmos"},{"container-title":"HP:0011481","author":[{"family":"abnormality of the lacrimal canaliculus"},{"family":"abnormality of the lacrimal duct"},{"family":"An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011481","type":"entry-dictionary","title":"Abnormal lacrimal duct morphology"},{"container-title":"HP:0011482","author":[{"family":"abnormality of the lacrimal gland"},{"family":"Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011482","type":"entry-dictionary","title":"Abnormal lacrimal gland morphology"},{"container-title":"HP:0011483","author":[{"family":"anterior synechiae"},{"family":"cornea-iris adhesion"},{"family":"iridocorneal synechia"},{"family":"Adhesions between the iris and the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011483","type":"entry-dictionary","title":"Anterior synechiae of the anterior chamber"},{"container-title":"HP:0011484","author":[{"family":"posterior synechiae"},{"family":"iridolenticular adhesions"},{"family":"Adhesions between the iris and the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011484","type":"entry-dictionary","title":"Posterior synechiae of the anterior chamber"},{"container-title":"HP:0011485","author":[{"family":"Developmental abnormality in which the lens and cornea are not separated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011485","type":"entry-dictionary","title":"Corneolenticular adhesion"},{"container-title":"HP:0011486","author":[{"family":"An abnormal anteroposterior thickness of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011486","type":"entry-dictionary","title":"Abnormality of corneal thickness"},{"container-title":"HP:0011487","author":[{"family":"A increased anteroposterior thickness of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011487","type":"entry-dictionary","title":"Increased corneal thickness"},{"container-title":"HP:0011488","author":[{"family":"Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011488","type":"entry-dictionary","title":"Abnormality of corneal endothelium"},{"container-title":"HP:0011489","author":[{"family":"Abnormal migration of corneal endothelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011489","type":"entry-dictionary","title":"Abnormal migration of corneal endothelium"},{"container-title":"HP:0011490","author":[{"family":"Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011490","type":"entry-dictionary","title":"Abnormality of Descemet's membrane"},{"container-title":"HP:0011491","author":[{"family":"A reduction in the number of corneal endothelial cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011491","type":"entry-dictionary","title":"Reduced number of corneal endothelial cells"},{"container-title":"HP:0011492","author":[{"family":"An abnormality of the stroma of cornea, also known as the substantia propria of cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011492","type":"entry-dictionary","title":"Abnormality of corneal stroma"},{"container-title":"HP:0011493","author":[{"family":"Reduced transparency of the central portion of the corneal stroma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011493","type":"entry-dictionary","title":"Central opacification of the cornea"},{"container-title":"HP:0011494","author":[{"family":"generalised opacification of the cornea"},{"family":"Generalized reduced transparency of the stroma of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011494","type":"entry-dictionary","title":"Generalized opacification of the cornea"},{"container-title":"HP:0011495","author":[{"family":"Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011495","type":"entry-dictionary","title":"Abnormality of corneal epithelium"},{"container-title":"HP:0011496","author":[{"family":"limbal neovascularization"},{"family":"corneal vascularization"},{"family":"new blood vessel formation in cornea"},{"family":"corneal neovascularisation"},{"family":"Ingrowth of new blood vessels into the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011496","type":"entry-dictionary","title":"Corneal neovascularization"},{"container-title":"HP:0011497","author":[{"family":"new blood vessel formation in iris"},{"family":"New growth of vessels on the surface of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011497","type":"entry-dictionary","title":"Iris neovascularization"},{"container-title":"HP:0011498","author":[{"family":"Sectoral aplasia of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011498","type":"entry-dictionary","title":"Partial aniridia"},{"container-title":"HP:0011499","author":[{"family":"dilated pupil"},{"family":"Abnormal dilatation of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011499","type":"entry-dictionary","title":"Mydriasis"},{"container-title":"HP:0011500","author":[{"family":"multiple pupils"},{"family":"Multiple pupils."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011500","type":"entry-dictionary","title":"Polycoria"},{"container-title":"HP:0011501","author":[{"family":"A conical projection of the anterior surface of the lens, occurring as a developmental anomaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011501","type":"entry-dictionary","title":"Anterior lenticonus"},{"container-title":"HP:0011502","author":[{"family":"A conical projection of the posterior surface of the lens, occurring as a developmental anomaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011502","type":"entry-dictionary","title":"Posterior lenticonus"},{"container-title":"HP:0011503","author":[{"family":"absent fovea"},{"family":"Congenital absence of the fovea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011503","type":"entry-dictionary","title":"Aplasia of the fovea"},{"container-title":"HP:0011504","author":[{"family":"chloroquine retinopathy"},{"family":"Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011504","type":"entry-dictionary","title":"Bull's eye maculopathy"},{"container-title":"HP:0011505","author":[{"family":"cystoid macular oedema"},{"family":"Cystoid macular edema (CME) is any type of macular edema that involves cyst formation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011505","type":"entry-dictionary","title":"Cystoid macular edema"},{"container-title":"HP:0011506","author":[{"family":"Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011506","type":"entry-dictionary","title":"Choroidal neovascularization"},{"container-title":"HP:0011507","author":[{"family":"Pale often indistinct lesions of the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011507","type":"entry-dictionary","title":"Macular flecks"},{"container-title":"HP:0011508","author":[{"family":"A macular hole is a small break in the macula, located in the center of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011508","type":"entry-dictionary","title":"Macular hole"},{"container-title":"HP:0011509","author":[{"family":"Increased amount of pigmentation in the macula lutea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011509","type":"entry-dictionary","title":"Macular hyperpigmentation"},{"container-title":"HP:0011510","author":[{"family":"Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011510","type":"entry-dictionary","title":"Drusen"},{"container-title":"HP:0011511","author":[{"family":"Splitting of the retina in the macular region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011511","type":"entry-dictionary","title":"Macular schisis"},{"container-title":"HP:0011512","author":[{"family":"hyperpigmented fundus"},{"family":"hyperpigmented fundi"},{"family":"Increased pigmentation of the fundus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011512","type":"entry-dictionary","title":"Hyperpigmentation of the fundus"},{"container-title":"HP:0011513","author":[{"family":"A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011513","type":"entry-dictionary","title":"Retinal cavernous angioma"},{"container-title":"HP:0011514","author":[{"family":"An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011514","type":"entry-dictionary","title":"Abnormality of binocular vision"},{"container-title":"HP:0011515","author":[{"family":"Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011515","type":"entry-dictionary","title":"Abnormal stereopsis"},{"container-title":"HP:0011516","author":[{"family":"rod monochromacy"},{"family":"rod monochromatism"},{"family":"A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011516","type":"entry-dictionary","title":"Achromatopsia"},{"container-title":"HP:0011517","author":[{"family":"The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011517","type":"entry-dictionary","title":"Cone monochromacy"},{"container-title":"HP:0011518","author":[{"family":"Individuals affected by dichromacy possess only two types of cones, instead of three."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011518","type":"entry-dictionary","title":"Dichromacy"},{"container-title":"HP:0011519","author":[{"family":"Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011519","type":"entry-dictionary","title":"Anomalous trichromacy"},{"container-title":"HP:0011520","author":[{"family":"green-weak"},{"family":"deuteranomoly"},{"family":"A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011520","type":"entry-dictionary","title":"Deuteranomaly"},{"container-title":"HP:0011521","author":[{"family":"green-blind"},{"family":"Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011521","type":"entry-dictionary","title":"Deuteranopia"},{"container-title":"HP:0011522","author":[{"family":"red-blind"},{"family":"Blue and green cones only; no functional red cones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011522","type":"entry-dictionary","title":"Protanopia"},{"container-title":"HP:0011523","author":[{"family":"An iris cyst is composed of a single cell layer of epithelium and is filled with fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011523","type":"entry-dictionary","title":"Iris cyst"},{"container-title":"HP:0011524","author":[{"family":"Malignant tumor of melanocytes affecting the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011524","type":"entry-dictionary","title":"Iris melanoma"},{"container-title":"HP:0011525","author":[{"family":"eye freckle"},{"family":"A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011525","type":"entry-dictionary","title":"Iris nevus"},{"container-title":"HP:0011526","author":[{"family":"abnormality of lens shape"},{"family":"An abnormal shape of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011526","type":"entry-dictionary","title":"Abnormality of lens shape"},{"container-title":"HP:0011527","author":[{"family":"bulging of eye lens"},{"family":"Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011527","type":"entry-dictionary","title":"Lentiglobus"},{"container-title":"HP:0011528","author":[{"family":"single isolated chrpe"},{"family":"single isolated congenital hypertrophy of retinal pigment epithelium"},{"family":"Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011528","type":"entry-dictionary","title":"Solitary congenital hypertrophy of retinal pigment epithelium"},{"container-title":"HP:0011529","author":[{"family":"multiple bilateral chrpe"},{"family":"Sharply demarcated hyperpigmentation which is congenital."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011529","type":"entry-dictionary","title":"Multiple bilateral congenital hypertrophy of retinal pigment epithelium"},{"container-title":"HP:0011530","author":[{"family":"retinal holes"},{"family":"A small break in the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011530","type":"entry-dictionary","title":"Retinal hole"},{"container-title":"HP:0011531","author":[{"family":"hyalitis"},{"family":"vitreitis"},{"family":"Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011531","type":"entry-dictionary","title":"Vitritis"},{"container-title":"HP:0011532","author":[{"family":"A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011532","type":"entry-dictionary","title":"Subretinal exudate"},{"container-title":"HP:0011533","author":[{"family":"snowflake retinal degeneration"},{"family":"The appearance of yellow\/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011533","type":"entry-dictionary","title":"Snowflake vitreoretinal degeneration"},{"container-title":"HP:0011534","author":[{"family":"Abnormality of the spatial relationship of the cardiac segments to other components of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011534","type":"entry-dictionary","title":"Abnormal spatial orientation of the cardiac segments"},{"container-title":"HP:0011535","author":[{"family":"abnormal location of heart atrium"},{"family":"Abnormality of the spatial relationship of the atria to other components of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011535","type":"entry-dictionary","title":"Abnormal atrial arrangement"},{"container-title":"HP:0011536","author":[{"family":"Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011536","type":"entry-dictionary","title":"Right atrial isomerism"},{"container-title":"HP:0011537","author":[{"family":"In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011537","type":"entry-dictionary","title":"Left atrial isomerism"},{"container-title":"HP:0011538","author":[{"family":"Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011538","type":"entry-dictionary","title":"Atrial situs inversus"},{"container-title":"HP:0011539","author":[{"family":"atrial situs ambiguus"},{"family":"atrial heterotaxy"},{"family":"Common atrium without defining morphologic features."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011539","type":"entry-dictionary","title":"Atrial situs ambiguous"},{"container-title":"HP:0011540","author":[{"family":"ventricular inversion"},{"family":"l-transposition"},{"family":"The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011540","type":"entry-dictionary","title":"Congenitally corrected transposition of the great arteries"},{"container-title":"HP:0011541","author":[{"family":"Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011541","type":"entry-dictionary","title":"Criss-cross atrioventricular valves"},{"container-title":"HP:0011542","author":[{"family":"Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011542","type":"entry-dictionary","title":"Criss-cross atrioventricular valves with superior-inferior ventricles"},{"container-title":"HP:0011543","author":[{"family":"Superior-inferior ventricles without criss-cross atrioventricular valves"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011543","type":"entry-dictionary","title":"Superior-inferior ventricles without criss-cross atrioventricular valves"},{"container-title":"HP:0011544","author":[{"family":"L-looping of the right ventricle"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011544","type":"entry-dictionary","title":"L-looping of the right ventricle"},{"container-title":"HP:0011545","author":[{"family":"discordant connection of the cardiac segments"},{"family":"A deviance in the normal connections between two cardiac segements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011545","type":"entry-dictionary","title":"Abnormal connection of the cardiac segments"},{"container-title":"HP:0011546","author":[{"family":"An abnormality of the circulatory connection between atria and ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011546","type":"entry-dictionary","title":"Abnormal atrioventricular connection"},{"container-title":"HP:0011547","author":[{"family":"A defect where there is no connection between the left atrium and left ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011547","type":"entry-dictionary","title":"Absent left sided atrioventricular connection"},{"container-title":"HP:0011548","author":[{"family":"A defect where there is no connection between the right atrium and right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011548","type":"entry-dictionary","title":"Absent right sided atrioventricular connection"},{"container-title":"HP:0011549","author":[{"family":"Univentricular heart with absent left sided atrioventricular connection"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011549","type":"entry-dictionary","title":"Univentricular heart with absent left sided atrioventricular connection"},{"container-title":"HP:0011550","author":[{"family":"Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011550","type":"entry-dictionary","title":"Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection"},{"container-title":"HP:0011551","author":[{"family":"Right sided atrium to left ventricle and absent left sided atrioventricular connection"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011551","type":"entry-dictionary","title":"Right sided atrium to left ventricle and absent left sided atrioventricular connection"},{"container-title":"HP:0011552","author":[{"family":"With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011552","type":"entry-dictionary","title":"Ambiguous atrioventricular connection"},{"container-title":"HP:0011553","author":[{"family":"Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011553","type":"entry-dictionary","title":"Discordant atrioventricular connection"},{"container-title":"HP:0011554","author":[{"family":"The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011554","type":"entry-dictionary","title":"Double inlet atrioventricular connection"},{"container-title":"HP:0011555","author":[{"family":"The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011555","type":"entry-dictionary","title":"Double inlet left ventricle"},{"container-title":"HP:0011556","author":[{"family":"The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011556","type":"entry-dictionary","title":"Double inlet right ventricle"},{"container-title":"HP:0011557","author":[{"family":"The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011557","type":"entry-dictionary","title":"Double inlet to single ventricle of indeterminate morphology"},{"container-title":"HP:0011558","author":[{"family":"Double inlet to single ventricle with common atrioventricular orifice"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011558","type":"entry-dictionary","title":"Double inlet to single ventricle with common atrioventricular orifice"},{"container-title":"HP:0011559","author":[{"family":"Double inlet to single ventricle with two atrioventricular valves"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011559","type":"entry-dictionary","title":"Double inlet to single ventricle with two atrioventricular valves"},{"container-title":"HP:0011560","author":[{"family":"mitral valve atresia"},{"family":"A congenital defect with failure to open of the mitral valve orifice."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011560","type":"entry-dictionary","title":"Mitral atresia"},{"container-title":"HP:0011561","author":[{"family":"An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011561","type":"entry-dictionary","title":"Overriding atrioventricular valve"},{"container-title":"HP:0011562","author":[{"family":"Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011562","type":"entry-dictionary","title":"Straddling atrioventricular valve"},{"container-title":"HP:0011563","author":[{"family":"Abnormal ventriculo-arterial connection"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011563","type":"entry-dictionary","title":"Abnormal ventriculo-arterial connection"},{"container-title":"HP:0011564","author":[{"family":"hammock mitral valve"},{"family":"Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011564","type":"entry-dictionary","title":"Mitral valve arcade"},{"container-title":"HP:0011565","author":[{"family":"single atrium"},{"family":"Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011565","type":"entry-dictionary","title":"Common atrium"},{"container-title":"HP:0011566","author":[{"family":"cor triatriatum dextrum"},{"family":"A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011566","type":"entry-dictionary","title":"Cor triatriatum dexter"},{"container-title":"HP:0011567","author":[{"family":"An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011567","type":"entry-dictionary","title":"Sinus venosus atrial septal defect"},{"container-title":"HP:0011568","author":[{"family":"The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011568","type":"entry-dictionary","title":"Double orifice mitral valve"},{"container-title":"HP:0011569","author":[{"family":"Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011569","type":"entry-dictionary","title":"Cleft anterior mitral valve leaflet"},{"container-title":"HP:0011570","author":[{"family":"Mitral stenosis with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011570","type":"entry-dictionary","title":"Congenital mitral stenosis"},{"container-title":"HP:0011571","author":[{"family":"Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011571","type":"entry-dictionary","title":"Parachute mitral valve"},{"container-title":"HP:0011572","author":[{"family":"supravalvular mitral ring"},{"family":"membranous supravalvular mitral stenosis"},{"family":"A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011572","type":"entry-dictionary","title":"Supramitral ring"},{"container-title":"HP:0011573","author":[{"family":"tricuspid valve hypoplasia"},{"family":"underdeveloped tricuspid valve"},{"family":"Congenital defect characterized by underdevelopment of the tricuspid valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011573","type":"entry-dictionary","title":"Hypoplastic tricuspid valve"},{"container-title":"HP:0011574","author":[{"family":"unopened atrioventricular valve"},{"family":"An atrioventricular valve that has failed to open (atretic)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011574","type":"entry-dictionary","title":"Imperforate atrioventricular valve"},{"container-title":"HP:0011575","author":[{"family":"unopened tricuspid valve"},{"family":"An tricuspid valve that has failed to open."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011575","type":"entry-dictionary","title":"Imperforate tricuspid valve"},{"container-title":"HP:0011576","author":[{"family":"intermediate atrioventricular septal defect"},{"family":"A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011576","type":"entry-dictionary","title":"Intermediate atrioventricular canal defect"},{"container-title":"HP:0011577","author":[{"family":"A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011577","type":"entry-dictionary","title":"Partial atrioventricular canal defect"},{"container-title":"HP:0011578","author":[{"family":"A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011578","type":"entry-dictionary","title":"Transitional atrioventricular canal defect"},{"container-title":"HP:0011579","author":[{"family":"unbalanced atrioventricular septal defect"},{"family":"Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011579","type":"entry-dictionary","title":"Unbalanced atrioventricular canal defect"},{"container-title":"HP:0011580","author":[{"family":"Abnormally short chordae tendineae of the mitral valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011580","type":"entry-dictionary","title":"Short chordae tendineae of the mitral valve"},{"container-title":"HP:0011581","author":[{"family":"A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011581","type":"entry-dictionary","title":"Double outlet left ventricle"},{"container-title":"HP:0011582","author":[{"family":"Displacement of the heart outside the thoracic cavity and into the abdomen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011582","type":"entry-dictionary","title":"Abdominal ectopia cordis"},{"container-title":"HP:0011583","author":[{"family":"A type of ectopia cordis with the heart partially in the cervical region and withouta defect of the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011583","type":"entry-dictionary","title":"Cervical ectopia cordis"},{"container-title":"HP:0011584","author":[{"family":"A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011584","type":"entry-dictionary","title":"Thoracocervical ectopia cordis"},{"container-title":"HP:0011585","author":[{"family":"Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011585","type":"entry-dictionary","title":"Thoracic ectopia cordis"},{"container-title":"HP:0011586","author":[{"family":"Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011586","type":"entry-dictionary","title":"Thoracoabdominal ectopia cordis"},{"container-title":"HP:0011587","author":[{"family":"A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011587","type":"entry-dictionary","title":"Abnormal branching pattern of the aortic arch"},{"container-title":"HP:0011588","author":[{"family":"The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011588","type":"entry-dictionary","title":"Cervical aortic arch"},{"container-title":"HP:0011589","author":[{"family":"common brachiocephalic trunk"},{"family":"bovine arch"},{"family":"The left common carotid artery has a common origin with the innominate artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011589","type":"entry-dictionary","title":"Common origin of the right brachiocephalic artery and left common carotid artery"},{"container-title":"HP:0011590","author":[{"family":"A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011590","type":"entry-dictionary","title":"Double aortic arch"},{"container-title":"HP:0011591","author":[{"family":"Left aortic arch with cervical origin of the right subclavian artery"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011591","type":"entry-dictionary","title":"Left aortic arch with cervical origin of the right subclavian artery"},{"container-title":"HP:0011592","author":[{"family":"The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011592","type":"entry-dictionary","title":"Left aortic arch with isolated subclavian artery"},{"container-title":"HP:0011593","author":[{"family":"kommerell diverticulum"},{"family":"A patent ductus arteriosus or ductal ligament completes the ring."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011593","type":"entry-dictionary","title":"Left aortic arch with retroesophageal diverticulum of Kommerell"},{"container-title":"HP:0011594","author":[{"family":"Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011594","type":"entry-dictionary","title":"Right aortic arch with retroesophageal diverticulum of Kommerell"},{"container-title":"HP:0011595","author":[{"family":"Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011595","type":"entry-dictionary","title":"Left aortic arch with retroesophageal right subclavian artery"},{"container-title":"HP:0011596","author":[{"family":"The ring may be completed by the ductal ligament."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011596","type":"entry-dictionary","title":"Left aortic arch with right descending aorta and right ductus arteriosus"},{"container-title":"HP:0011597","author":[{"family":"Right aortic arch with left descending aorta and left ductus arteriosus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011597","type":"entry-dictionary","title":"Right aortic arch with left descending aorta and left ductus arteriosus"},{"container-title":"HP:0011598","author":[{"family":"right aortic arch with aberrant left subclavian artery"},{"family":"right aortic arch with anomalous left subclavian artery"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011598","type":"entry-dictionary","title":"Right aortic arch with retroesophageal left subclavian artery"},{"container-title":"HP:0011599","author":[{"family":"Mesocardia is a abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011599","type":"entry-dictionary","title":"Mesocardia"},{"container-title":"HP:0011600","author":[{"family":"Abnormal plane of direction of the heart from the base to the apex. Left sided is normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011600","type":"entry-dictionary","title":"Abnormal direction of ventricular apex"},{"container-title":"HP:0011601","author":[{"family":"Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011601","type":"entry-dictionary","title":"Rightward direction of ventricular apex"},{"container-title":"HP:0011602","author":[{"family":"Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011602","type":"entry-dictionary","title":"Midline direction of ventricular apex"},{"container-title":"HP:0011603","author":[{"family":"Defect or defects of the morphogenesis of the aorta and pulmonary arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011603","type":"entry-dictionary","title":"Congenital malformation of the great arteries"},{"container-title":"HP:0011604","author":[{"family":"A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011604","type":"entry-dictionary","title":"Aortopulmonary window"},{"container-title":"HP:0011605","author":[{"family":"A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011605","type":"entry-dictionary","title":"Congenitally corrected transposition of the great arteries with ventricular septal defect"},{"container-title":"HP:0011608","author":[{"family":"type 2 truncus arteriosus"},{"family":"persistent truncus arteriosus type ii"},{"family":"Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011608","type":"entry-dictionary","title":"Type II truncus arteriosus"},{"container-title":"HP:0011609","author":[{"family":"persistent truncus arteriosus type iii"},{"family":"type 3 truncus arteriosus"},{"family":"Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011609","type":"entry-dictionary","title":"Type III truncus arteriosus"},{"container-title":"HP:0011610","author":[{"family":"persistent truncus arteriosus type iv"},{"family":"type 4 truncus arteriosus"},{"family":"Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011610","type":"entry-dictionary","title":"Type IV truncus arteriosus"},{"container-title":"HP:0011611","author":[{"family":"atretic transverse aortic arch"},{"family":"aortic arch obstruction"},{"family":"Non-continuity of the arch of aorta with an atretic point or absent segment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011611","type":"entry-dictionary","title":"Interrupted aortic arch"},{"container-title":"HP:0011612","author":[{"family":"Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011612","type":"entry-dictionary","title":"Interrupted aortic arch type A"},{"container-title":"HP:0011613","author":[{"family":"interrupted aortic arch, type b"},{"family":"Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011613","type":"entry-dictionary","title":"Interrupted aortic arch type B"},{"container-title":"HP:0011614","author":[{"family":"Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011614","type":"entry-dictionary","title":"Interrupted aortic arch type C"},{"container-title":"HP:0011615","author":[{"family":"abnormality of pulmonary situs"},{"family":"An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011615","type":"entry-dictionary","title":"Abnormal pulmonary situs morphology"},{"container-title":"HP:0011616","author":[{"family":"Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011616","type":"entry-dictionary","title":"Pulmonary situs inversus"},{"container-title":"HP:0011617","author":[{"family":"An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011617","type":"entry-dictionary","title":"Pulmonary situs ambiguus"},{"container-title":"HP:0011618","author":[{"family":"An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lungs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011618","type":"entry-dictionary","title":"Pulmonary situs ambiguus with bilateral morphologic right lungs"},{"container-title":"HP:0011619","author":[{"family":"An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011619","type":"entry-dictionary","title":"Pulmonary situs ambiguus with bilateral morphologic left lungs"},{"container-title":"HP:0011620","author":[{"family":"An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011620","type":"entry-dictionary","title":"Abnormality of abdominal situs"},{"container-title":"HP:0011621","author":[{"family":"left ventricular - right atrial communication"},{"family":"A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011621","type":"entry-dictionary","title":"Gerbode ventricular septal defect"},{"container-title":"HP:0011622","author":[{"family":"atrioventricular canal type ventricular septal defect"},{"family":"type 3 ventricular septal defect"},{"family":"A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011622","type":"entry-dictionary","title":"Inlet ventricular septal defect"},{"container-title":"HP:0011623","author":[{"family":"ventricular septal defect, muscular"},{"family":"type 4 ventricular septal defect"},{"family":"The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011623","type":"entry-dictionary","title":"Muscular ventricular septal defect"},{"container-title":"HP:0011624","author":[{"family":"A muscular ventricular septal defect located at the apex of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011624","type":"entry-dictionary","title":"Apical muscular ventricular septal defect"},{"container-title":"HP:0011625","author":[{"family":"swiss cheese ventricular septal defect"},{"family":"A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011625","type":"entry-dictionary","title":"Multiple muscular ventricular septal defects"},{"container-title":"HP:0011626","author":[{"family":"scimitar syndrome"},{"family":"pulmonary venolobar syndrome"},{"family":"Right pulmonary venous return to the inferior vena cava."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011626","type":"entry-dictionary","title":"Scimitar anomaly"},{"container-title":"HP:0011627","author":[{"family":"Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011627","type":"entry-dictionary","title":"Aorto-ventricular tunnel"},{"container-title":"HP:0011628","author":[{"family":"A developmental defect of the pericardium with congenital onset."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011628","type":"entry-dictionary","title":"Congenital defect of the pericardium"},{"container-title":"HP:0011629","author":[{"family":"congenital absence of the pericardium"},{"family":"absent pericardium"},{"family":"No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011629","type":"entry-dictionary","title":"Total absence of the pericardium"},{"container-title":"HP:0011630","author":[{"family":"No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011630","type":"entry-dictionary","title":"Complete diaphragmatic absence of pericardium"},{"container-title":"HP:0011631","author":[{"family":"No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011631","type":"entry-dictionary","title":"Complete right sided absence of pericardium"},{"container-title":"HP:0011632","author":[{"family":"A congenital anomaly with lack of part of the pericardium on the righthand side of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011632","type":"entry-dictionary","title":"Partial right sided absence of pericardium"},{"container-title":"HP:0011633","author":[{"family":"absent lining around of left side of heart"},{"family":"A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011633","type":"entry-dictionary","title":"Complete left sided absence of pericardium"},{"container-title":"HP:0011634","author":[{"family":"A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011634","type":"entry-dictionary","title":"Partial left sided absence of pericardium"},{"container-title":"HP:0011635","author":[{"family":"Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011635","type":"entry-dictionary","title":"Partial diaphragmatic absence of pericardium"},{"container-title":"HP:0011636","author":[{"family":"Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011636","type":"entry-dictionary","title":"Abnormal coronary artery origin"},{"container-title":"HP:0011637","author":[{"family":"A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011637","type":"entry-dictionary","title":"Anomalous origin of coronary artery from the pulmonary artery"},{"container-title":"HP:0011638","author":[{"family":"anomalous left coronary artery from the pulmonary artery"},{"family":"bland-garland-white syndrome"},{"family":"alcapa"},{"family":"Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011638","type":"entry-dictionary","title":"Anomalous origin of left coronary artery from the pulmonary artery"},{"container-title":"HP:0011639","author":[{"family":"Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011639","type":"entry-dictionary","title":"Anomalous origin of right coronary artery from the pulmonary artery"},{"container-title":"HP:0011640","author":[{"family":"The presence of a single coronary artery ostium from which both coronary arteries arise."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011640","type":"entry-dictionary","title":"Single coronary artery origin"},{"container-title":"HP:0011641","author":[{"family":"coronary fistula"},{"family":"A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011641","type":"entry-dictionary","title":"Coronary artery fistula"},{"container-title":"HP:0011642","author":[{"family":"abnormality of the coronary sinus"},{"family":"An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011642","type":"entry-dictionary","title":"Abnormal coronary sinus morphology"},{"container-title":"HP:0011643","author":[{"family":"An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011643","type":"entry-dictionary","title":"Coronary sinus atrial septal defect"},{"container-title":"HP:0011644","author":[{"family":"diverticulum of the coronary sinus"},{"family":"A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011644","type":"entry-dictionary","title":"Coronary sinus diverticulum"},{"container-title":"HP:0011645","author":[{"family":"aortic sinus aneurysm"},{"family":"sinus of valsalva aneurysm"},{"family":"aneurysm of the aortic sinus"},{"family":"Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011645","type":"entry-dictionary","title":"Dilatation of the sinus of Valsalva"},{"container-title":"HP:0011646","author":[{"family":"Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011646","type":"entry-dictionary","title":"Juxtaductal coarctation of the aorta"},{"container-title":"HP:0011647","author":[{"family":"postductal aortic coarctation"},{"family":"Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011647","type":"entry-dictionary","title":"Postductal coarctation of the aorta"},{"container-title":"HP:0011648","author":[{"family":"Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011648","type":"entry-dictionary","title":"Patent ductus arteriosus after birth at term"},{"container-title":"HP:0011649","author":[{"family":"Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011649","type":"entry-dictionary","title":"Patent ductus arteriosus after premature birth"},{"container-title":"HP:0011650","author":[{"family":"bilateral ductus botalli"},{"family":"The presence of both a left and a right ductus arteriosus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011650","type":"entry-dictionary","title":"Bilateral ductus arteriosus"},{"container-title":"HP:0011651","author":[{"family":"dorv with doubly committed vsd and pulmonary stenosis"},{"family":"A double outlet right ventricle with a subaortic ventritricular septal defect (a hotel between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and arere closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and\/or in the left or right pulmonary artery branches."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011651","type":"entry-dictionary","title":"Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis"},{"container-title":"HP:0011652","author":[{"family":"double outlet right ventricle, doubly committed ventricular septal defect"},{"family":"dorv with doubly committed vsd"},{"family":"A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and arere closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and\/or in the left or right pulmonary artery branches."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011652","type":"entry-dictionary","title":"Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis"},{"container-title":"HP:0011653","author":[{"family":"dorv with non-committed vsd and pulmonary stenosis"},{"family":"A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and\/or in the left or right pulmonary artery branches."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011653","type":"entry-dictionary","title":"Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis"},{"container-title":"HP:0011654","author":[{"family":"dorv with non-committed vsd without pulmonary stenosis"},{"family":"double outlet right ventricle, noncommitted ventricular septal defect"},{"family":"A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and\/or in the left or right pulmonary artery branches."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011654","type":"entry-dictionary","title":"Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis"},{"container-title":"HP:0011655","author":[{"family":"dorv with subaortic vsd and pulmonary stenosis"},{"family":"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and\/or in the left or right pulmonary artery branches."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011655","type":"entry-dictionary","title":"Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis"},{"container-title":"HP:0011656","author":[{"family":"dorv with subaortic vdsd without pulmonary stenosis"},{"family":"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and\/or in the left or right pulmonary artery branches."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011656","type":"entry-dictionary","title":"Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis"},{"container-title":"HP:0011657","author":[{"family":"dorv with subpulmonary vsd and pulmonary stenosis"},{"family":"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and\/or in the left or right pulmonary artery branches."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011657","type":"entry-dictionary","title":"Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis"},{"container-title":"HP:0011658","author":[{"family":"dorv with subpulmonary vsd without pulmonary stenosis"},{"family":"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and\/or in the left or right pulmonary artery branches."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011658","type":"entry-dictionary","title":"Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis"},{"container-title":"HP:0011659","author":[{"family":"tetralogy of fallot with absent pulmonary valve syndrome"},{"family":"Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011659","type":"entry-dictionary","title":"Tetralogy of Fallot with absent pulmonary valve"},{"container-title":"HP:0011660","author":[{"family":"hemitruncus"},{"family":"Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011660","type":"entry-dictionary","title":"Anomalous origin of one pulmonary artery from ascending aorta"},{"container-title":"HP:0011661","author":[{"family":"The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011661","type":"entry-dictionary","title":"Anomalous origin of left pulmonary artery from ascending aorta"},{"container-title":"HP:0011662","author":[{"family":"tricuspid valve atresia"},{"family":"Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011662","type":"entry-dictionary","title":"Tricuspid atresia"},{"container-title":"HP:0011663","author":[{"family":"cardiomyopathy, esp. right ventricular"},{"family":"cardiomyopathy, right ventricular"},{"family":"Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011663","type":"entry-dictionary","title":"Right ventricular cardiomyopathy"},{"container-title":"HP:0011664","author":[{"family":"left ventricular non-compaction cardiomyopathy"},{"family":"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011664","type":"entry-dictionary","title":"Left ventricular noncompaction cardiomyopathy"},{"container-title":"HP:0011665","author":[{"family":"broken-heart syndrome"},{"family":"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and\/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011665","type":"entry-dictionary","title":"Takotsubo cardiomyopathy"},{"container-title":"HP:0011666","author":[{"family":"Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011666","type":"entry-dictionary","title":"Absent right superior vena cava"},{"container-title":"HP:0011667","author":[{"family":"Bilateral superior vena cava with bridging vein"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011667","type":"entry-dictionary","title":"Bilateral superior vena cava with bridging vein"},{"container-title":"HP:0011668","author":[{"family":"Bilateral superior vena cava with no bridging vein"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011668","type":"entry-dictionary","title":"Bilateral superior vena cava with no bridging vein"},{"container-title":"HP:0011669","author":[{"family":"A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011669","type":"entry-dictionary","title":"Left superior vena cava draining directly to the left atrium"},{"container-title":"HP:0011670","author":[{"family":"A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011670","type":"entry-dictionary","title":"Left superior vena cava draining to coronary sinus"},{"container-title":"HP:0011671","author":[{"family":"Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011671","type":"entry-dictionary","title":"Interrupted inferior vena cava with azygous continuation"},{"container-title":"HP:0011672","author":[{"family":"A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011672","type":"entry-dictionary","title":"Cardiac myxoma"},{"container-title":"HP:0011673","author":[{"family":"Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011673","type":"entry-dictionary","title":"Cardiac hemangioma"},{"container-title":"HP:0011674","author":[{"family":"A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011674","type":"entry-dictionary","title":"Cardiac teratoma"},{"container-title":"HP:0011675","author":[{"family":"abnormality of cardiac conduction"},{"family":"irregular heart beat"},{"family":"cardiac conduction defects"},{"family":"cardiac conduction abnormalities"},{"family":"irregular heartbeat"},{"family":"abnormal heart rate"},{"family":"cardiac arrhythmias"},{"family":"cardiac rhythm disturbances"},{"family":"heart rhythm disorders"},{"family":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011675","type":"entry-dictionary","title":"Arrhythmia"},{"container-title":"HP:0011676","author":[{"family":"Tetralogy of Fallot with absent subarterial conus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011676","type":"entry-dictionary","title":"Tetralogy of Fallot with absent subarterial conus"},{"container-title":"HP:0011677","author":[{"family":"Tetralogy of Fallot with atrioventricular canal defect"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011677","type":"entry-dictionary","title":"Tetralogy of Fallot with atrioventricular canal defect"},{"container-title":"HP:0011678","author":[{"family":"A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011678","type":"entry-dictionary","title":"Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries"},{"container-title":"HP:0011679","author":[{"family":"The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011679","type":"entry-dictionary","title":"Tetralogy of Fallot with pulmonary stenosis"},{"container-title":"HP:0011680","author":[{"family":"Single ventricle of indeterminate morphology"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011680","type":"entry-dictionary","title":"Single ventricle of indeterminate morphology"},{"container-title":"HP:0011681","author":[{"family":"conal ventricular septal defect"},{"family":"type 1 ventricular septal defect"},{"family":"infundibular ventricular septal defect"},{"family":"doubly committed ventricular septal defect"},{"family":"supracristal ventricular septal defect"},{"family":"A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011681","type":"entry-dictionary","title":"Subarterial ventricular septal defect"},{"container-title":"HP:0011682","author":[{"family":"paramembranous ventricular septal defect"},{"family":"type 2 ventricular septal defect"},{"family":"conoventricular ventricular septal defect"},{"family":"perimembraneous ventricular septal defect"},{"family":"ventricular septal defect, perimembranous"},{"family":"A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011682","type":"entry-dictionary","title":"Perimembranous ventricular septal defect"},{"container-title":"HP:0011683","author":[{"family":"Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011683","type":"entry-dictionary","title":"Restrictive ventricular septal defect"},{"container-title":"HP:0011684","author":[{"family":"Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011684","type":"entry-dictionary","title":"Non-restrictive ventricular septal defect"},{"container-title":"HP:0011685","author":[{"family":"The superior vena cava passes below the aortic arch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011685","type":"entry-dictionary","title":"Infra-aortic superior vena cava"},{"container-title":"HP:0011686","author":[{"family":"anomalous coronary artery course"},{"family":"An abnormal path of a coronary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011686","type":"entry-dictionary","title":"Abnormal coronary artery course"},{"container-title":"HP:0011687","author":[{"family":"av nodal tachycardia"},{"family":"atrioventricular nodal tachycardia"},{"family":"A type of supraventricular tachycardia that originates in the atrioventricular node."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011687","type":"entry-dictionary","title":"AV nodal tachycardia"},{"container-title":"HP:0011688","author":[{"family":"atrioventricular re-entry tachycardia"},{"family":"Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011688","type":"entry-dictionary","title":"Supraventricular tachycardia with an accessory connection mediated pathway"},{"container-title":"HP:0011689","author":[{"family":"Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011689","type":"entry-dictionary","title":"Supraventricular tachycardia with a concealed accessory connection"},{"container-title":"HP:0011690","author":[{"family":"An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011690","type":"entry-dictionary","title":"Permanent junctional reciprocating tachycardia"},{"container-title":"HP:0011691","author":[{"family":"Supraventricular tachycardia with a concealed accessory pathway on the left free wall"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011691","type":"entry-dictionary","title":"Supraventricular tachycardia with a concealed accessory pathway on the left free wall"},{"container-title":"HP:0011692","author":[{"family":"Supraventricular tachycardia with a concealed accessory pathway on the right free wall"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011692","type":"entry-dictionary","title":"Supraventricular tachycardia with a concealed accessory pathway on the right free wall"},{"container-title":"HP:0011693","author":[{"family":"Supraventricular tachycardia with a concealed accessory pathway on the septum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011693","type":"entry-dictionary","title":"Supraventricular tachycardia with a concealed accessory pathway on the septum"},{"container-title":"HP:0011694","author":[{"family":"Supraventricular tachycardia with a manifest accessory pathway"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011694","type":"entry-dictionary","title":"Supraventricular tachycardia with a manifest accessory pathway"},{"container-title":"HP:0011695","author":[{"family":"Hemorrhage into the parenchyma of the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011695","type":"entry-dictionary","title":"Cerebellar hemorrhage"},{"container-title":"HP:0011696","author":[{"family":"Supraventricular tachycardia with a manifest accessory pathway on the left free wall"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011696","type":"entry-dictionary","title":"Supraventricular tachycardia with a manifest accessory pathway on the left free wall"},{"container-title":"HP:0011697","author":[{"family":"Supraventricular tachycardia with a manifest accessory pathway on the right free wall"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011697","type":"entry-dictionary","title":"Supraventricular tachycardia with a manifest accessory pathway on the right free wall"},{"container-title":"HP:0011698","author":[{"family":"Supraventricular tachycardia with a manifest accessory pathway on the septum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011698","type":"entry-dictionary","title":"Supraventricular tachycardia with a manifest accessory pathway on the septum"},{"container-title":"HP:0011699","author":[{"family":"Atrial reentry tachycardia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011699","type":"entry-dictionary","title":"Atrial reentry tachycardia"},{"container-title":"HP:0011700","author":[{"family":"Chronic supraventracle tachycardia predominantly seen in childhood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011700","type":"entry-dictionary","title":"Automatic atrial tachycardia"},{"container-title":"HP:0011701","author":[{"family":"chaotic atrial tachycardia"},{"family":"ectopic atrial tachycardia"},{"family":"Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011701","type":"entry-dictionary","title":"Multifocal atrial tachycardia"},{"container-title":"HP:0011702","author":[{"family":"An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011702","type":"entry-dictionary","title":"Abnormal electrophysiology of sinoatrial node origin"},{"container-title":"HP:0011703","author":[{"family":"sinus tachy"},{"family":"Heart rate of greater than 100 beats per minute."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011703","type":"entry-dictionary","title":"Sinus tachycardia"},{"container-title":"HP:0011704","author":[{"family":"sinoatrial node disease"},{"family":"An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011704","type":"entry-dictionary","title":"Sick sinus syndrome"},{"container-title":"HP:0011705","author":[{"family":"Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011705","type":"entry-dictionary","title":"First degree atrioventricular block"},{"container-title":"HP:0011706","author":[{"family":"An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011706","type":"entry-dictionary","title":"Second degree atrioventricular block"},{"container-title":"HP:0011707","author":[{"family":"wenckebach block"},{"family":"mobitz type 1 atrioventricular block"},{"family":"Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011707","type":"entry-dictionary","title":"Mobitz I atrioventricular block"},{"container-title":"HP:0011708","author":[{"family":"mobitz type 2 atrioventricular block"},{"family":"A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011708","type":"entry-dictionary","title":"Mobitz II atrioventricular block"},{"container-title":"HP:0011709","author":[{"family":"Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur is the absence of a primary AV conduction disturbance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011709","type":"entry-dictionary","title":"Atrioventricular dissociation"},{"container-title":"HP:0011710","author":[{"family":"bundle-branch block"},{"family":"Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011710","type":"entry-dictionary","title":"Bundle branch block"},{"container-title":"HP:0011711","author":[{"family":"left anterior hemiblock"},{"family":"Conduction block in the anterior division of the left bundle branch of the bundle of His."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011711","type":"entry-dictionary","title":"Left anterior fascicular block"},{"container-title":"HP:0011712","author":[{"family":"right bundle-branch block"},{"family":"A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011712","type":"entry-dictionary","title":"Right bundle branch block"},{"container-title":"HP:0011713","author":[{"family":"A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011713","type":"entry-dictionary","title":"Left bundle branch block"},{"container-title":"HP:0011714","author":[{"family":"Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011714","type":"entry-dictionary","title":"Libman-Sacks lesions"},{"container-title":"HP:0011715","author":[{"family":"Abnormal conduction in all three divisions of the intraventricular conducting tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011715","type":"entry-dictionary","title":"Trifascicular block"},{"container-title":"HP:0011716","author":[{"family":"Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011716","type":"entry-dictionary","title":"Junctional ectopic tachycardia"},{"container-title":"HP:0011717","author":[{"family":"av nodal reentry tachycardia"},{"family":"Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011717","type":"entry-dictionary","title":"Atrioventricular reentrant tachycardia"},{"container-title":"HP:0011718","author":[{"family":"abnormality of lung veins"},{"family":"An abnormality of the pulmonary veins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011718","type":"entry-dictionary","title":"Abnormality of the pulmonary veins"},{"container-title":"HP:0011719","author":[{"family":"type 1 total anomalous pulmonary venous connection"},{"family":"total anomalous pulmonary venous connection, supracardiac"},{"family":"Type 1 total anomalous pulmonary venous connection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011719","type":"entry-dictionary","title":"Supracardiac total anomalous pulmonary venous connection"},{"container-title":"HP:0011720","author":[{"family":"type 2 total anomalous pulmonary venous connection"},{"family":"total anomalous pulmonary venous connection, intracardiac"},{"family":"Type 2 total anomalous pulmonary venous connection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011720","type":"entry-dictionary","title":"Cardiac total anomalous pulmonary venous connection"},{"container-title":"HP:0011721","author":[{"family":"type 3 total anomalous pulmonary venous connection"},{"family":"Type 3 total anomalous pulmonary venous connection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011721","type":"entry-dictionary","title":"Infracardiac total anomalous pulmonary venous connection"},{"container-title":"HP:0011722","author":[{"family":"type 4 total anomalous pulmonary venous connection"},{"family":"total anomalous pulmonary venous connection, mixed"},{"family":"Type 4 total anomalous pulmonary venous connection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011722","type":"entry-dictionary","title":"Mixed total anomalous pulmonary venous connection"},{"container-title":"HP:0011723","author":[{"family":"Defect or defects of the morphogenesis of the right heart identifiable at birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011723","type":"entry-dictionary","title":"Congenital malformation of the right heart"},{"container-title":"HP:0011724","author":[{"family":"Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011724","type":"entry-dictionary","title":"Uhl's anomaly"},{"container-title":"HP:0011725","author":[{"family":"Chaotic multifocal atrial tachycardia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011725","type":"entry-dictionary","title":"Chaotic multifocal atrial tachycardia"},{"container-title":"HP:0011726","author":[{"family":"Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011726","type":"entry-dictionary","title":"Persistent fetal circulation"},{"container-title":"HP:0011727","author":[{"family":"fibularis muscle weakness"},{"family":"Weakness of the peroneal muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011727","type":"entry-dictionary","title":"Peroneal muscle weakness"},{"container-title":"HP:0011728","author":[{"family":"Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011728","type":"entry-dictionary","title":"Elbow clonus"},{"container-title":"HP:0011729","author":[{"family":"An abnormality in the range and ease of motion of joints across their normal range."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011729","type":"entry-dictionary","title":"Abnormality of joint mobility"},{"container-title":"HP:0011730","author":[{"family":"An abnormality of cortical sensation. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function usually indicates a lesion of a parietal cortex or of the thalamocortical projections to the parietal cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011730","type":"entry-dictionary","title":"Abnormality of central sensory function"},{"container-title":"HP:0011731","author":[{"family":"An abnormality of the concentration of cortisol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011731","type":"entry-dictionary","title":"Abnormality of circulating cortisol level"},{"container-title":"HP:0011732","author":[{"family":"Any structural anomaly of the adrenal glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011732","type":"entry-dictionary","title":"Abnormality of adrenal morphology"},{"container-title":"HP:0011733","author":[{"family":"A functional abnormality of the adrenal glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011733","type":"entry-dictionary","title":"Abnormality of adrenal physiology"},{"container-title":"HP:0011734","author":[{"family":"secondary adrenal insufficiency"},{"family":"A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011734","type":"entry-dictionary","title":"Central adrenal insufficiency"},{"container-title":"HP:0011735","author":[{"family":"acth deficient adrenal insufficiency"},{"family":"Adrenal insufficiency secondary to a defect in ACTH production."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011735","type":"entry-dictionary","title":"Adrenocorticotropin deficient adrenal insufficiency"},{"container-title":"HP:0011736","author":[{"family":"A form of hyperaldosteronism caused by a defect within the adrenal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011736","type":"entry-dictionary","title":"Primary hyperaldosteronism"},{"container-title":"HP:0011737","author":[{"family":"crh deficient adrenal insufficiency"},{"family":"tertiary adrenal insufficiency"},{"family":"Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011737","type":"entry-dictionary","title":"Corticotropin-releasing hormone deficient adrenal insufficiency"},{"container-title":"HP:0011738","author":[{"family":"corticotropin-releasing hormone receptor (crhr) resistance"},{"family":"crhr defect"},{"family":"Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011738","type":"entry-dictionary","title":"Corticotropin-releasing hormone receptor defect"},{"container-title":"HP:0011739","author":[{"family":"familial primary hyperaldosteronism type 1"},{"family":"glucocorticoid-remediable familial primary aldosteronism"},{"family":"A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011739","type":"entry-dictionary","title":"Dexamethasone-suppresible primary hyperaldosteronism"},{"container-title":"HP:0011740","author":[{"family":"familial primary hyperaldosteronism type 2"},{"family":"A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011740","type":"entry-dictionary","title":"Glucocortocoid-insensitive primary hyperaldosteronism"},{"container-title":"HP:0011741","author":[{"family":"hyperreninemic hyperaldosteronism"},{"family":"A form of hyperaldosteronism caused by abnormally increased renin levels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011741","type":"entry-dictionary","title":"Secondary hyperaldosteronism"},{"container-title":"HP:0011742","author":[{"family":"abnormal adrenal gland position"},{"family":"Abnormal anatomical location of the adrenal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011742","type":"entry-dictionary","title":"Ectopic adrenal gland"},{"container-title":"HP:0011743","author":[{"family":"Absent development of the adrenal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011743","type":"entry-dictionary","title":"Adrenal gland agenesis"},{"container-title":"HP:0011744","author":[{"family":"acth-dependent hypercortisolemia"},{"family":"Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011744","type":"entry-dictionary","title":"Secondary hypercorticolism"},{"container-title":"HP:0011745","author":[{"family":"non-secretory adrenal adenoma"},{"family":"An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011745","type":"entry-dictionary","title":"Non-secretory adrenocortical adenoma"},{"container-title":"HP:0011746","author":[{"family":"secretory adrenal adenoma"},{"family":"An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011746","type":"entry-dictionary","title":"Secretory adrenocortical adenoma"},{"container-title":"HP:0011747","author":[{"family":"pituitary disease"},{"family":"An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011747","type":"entry-dictionary","title":"Abnormality of the anterior pituitary"},{"container-title":"HP:0011748","author":[{"family":"corticotropin deficiency"},{"family":"acth deficiency"},{"family":"A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011748","type":"entry-dictionary","title":"Adrenocorticotropic hormone deficiency"},{"container-title":"HP:0011749","author":[{"family":"acth excess"},{"family":"Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011749","type":"entry-dictionary","title":"Adrenocorticotropic hormone excess"},{"container-title":"HP:0011750","author":[{"family":"neoplasm of the adenohypophysis"},{"family":"neoplasm of the pars anterior"},{"family":"A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011750","type":"entry-dictionary","title":"Neoplasm of the anterior pituitary"},{"container-title":"HP:0011751","author":[{"family":"abnormality of the neurohypophysis"},{"family":"An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011751","type":"entry-dictionary","title":"Abnormality of the posterior pituitary"},{"container-title":"HP:0011752","author":[{"family":"neoplasm of the neurohypophysis"},{"family":"The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011752","type":"entry-dictionary","title":"Neoplasm of the posterior pituitary"},{"container-title":"HP:0011753","author":[{"family":"neurohypophysis dysplasia"},{"family":"posterior pituitary dysplasia"},{"family":"Abnormal development of the neurohypophysis during embryonic growth and development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011753","type":"entry-dictionary","title":"Posterior pituitary dysgenesis"},{"container-title":"HP:0011754","author":[{"family":"A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011754","type":"entry-dictionary","title":"Pituicytoma"},{"container-title":"HP:0011755","author":[{"family":"ectopic neurohypophysis"},{"family":"An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011755","type":"entry-dictionary","title":"Ectopic posterior pituitary"},{"container-title":"HP:0011756","author":[{"family":"neurohypophysis agenesis"},{"family":"Absence of the neurohypophysis owing to a developmental defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011756","type":"entry-dictionary","title":"Posterior pituitary agenesis"},{"container-title":"HP:0011757","author":[{"family":"neurohypophysis hypoplasia"},{"family":"Underdevelopment of the neurohypophysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011757","type":"entry-dictionary","title":"Posterior pituitary hypoplasia"},{"container-title":"HP:0011758","author":[{"family":"Pituitary acidophilic stem cell adenoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011758","type":"entry-dictionary","title":"Pituitary acidophilic stem cell adenoma"},{"container-title":"HP:0011759","author":[{"family":"pituitary gonadotropinoma"},{"family":"A type of pituitary adenoma that produces gonadotropins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011759","type":"entry-dictionary","title":"Pituitary gonadotropic cell adenoma"},{"container-title":"HP:0011760","author":[{"family":"pituitary somatotropinoma"},{"family":"A type of pituitary adenoma that produces grwoth hormone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011760","type":"entry-dictionary","title":"Pituitary growth hormone cell adenoma"},{"container-title":"HP:0011761","author":[{"family":"clinically silent pituitary adenoma"},{"family":"non-functional pituitary adenoma"},{"family":"hormonally silent pituitary adenoma"},{"family":"A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011761","type":"entry-dictionary","title":"Pituitary null cell adenoma"},{"container-title":"HP:0011762","author":[{"family":"pituitary thyrotropinoma"},{"family":"A type of pituitary adenoma that produces thyroid stimulating hormone (TSH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011762","type":"entry-dictionary","title":"Pituitary thyrotropic cell adenoma"},{"container-title":"HP:0011763","author":[{"family":"A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011763","type":"entry-dictionary","title":"Pituitary carcinoma"},{"container-title":"HP:0011764","author":[{"family":"A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011764","type":"entry-dictionary","title":"Pituitary spindle cell oncocytoma"},{"container-title":"HP:0011766","author":[{"family":"A structural abnormality of the parathyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011766","type":"entry-dictionary","title":"Abnormality of the parathyroid morphology"},{"container-title":"HP:0011767","author":[{"family":"parathyroid issue"},{"family":"parathyroid dysfunction"},{"family":"A functional abnormality of the parathyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011767","type":"entry-dictionary","title":"Abnormality of the parathyroid physiology"},{"container-title":"HP:0011768","author":[{"family":"Abnormal embryonic development of the parathyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011768","type":"entry-dictionary","title":"Parathyroid dysgenesis"},{"container-title":"HP:0011769","author":[{"family":"An abnormal anatomical location of the parathyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011769","type":"entry-dictionary","title":"Ectopic parathyroid"},{"container-title":"HP:0011770","author":[{"family":"A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011770","type":"entry-dictionary","title":"Tertiary hyperparathyroidism"},{"container-title":"HP:0011771","author":[{"family":"A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011771","type":"entry-dictionary","title":"Autoimmune hypoparathyroidism"},{"container-title":"HP:0011772","author":[{"family":"abnormal shape of thyroid gland"},{"family":"A structural abnormality of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011772","type":"entry-dictionary","title":"Abnormality of thyroid morphology"},{"container-title":"HP:0011773","author":[{"family":"Enlargement of the thyroid gland related to a singular nodule in the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011773","type":"entry-dictionary","title":"Uninodular goiter"},{"container-title":"HP:0011774","author":[{"family":"Thyroid follicular adenoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011774","type":"entry-dictionary","title":"Thyroid follicular adenoma"},{"container-title":"HP:0011775","author":[{"family":"Thyroid macrofollicular adenoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011775","type":"entry-dictionary","title":"Thyroid macrofollicular adenoma"},{"container-title":"HP:0011776","author":[{"family":"Thyroid microfollicular adenoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011776","type":"entry-dictionary","title":"Thyroid microfollicular adenoma"},{"container-title":"HP:0011777","author":[{"family":"Thyroid papillary adenoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011777","type":"entry-dictionary","title":"Thyroid papillary adenoma"},{"container-title":"HP:0011778","author":[{"family":"Thyroid atypical adenoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011778","type":"entry-dictionary","title":"Thyroid atypical adenoma"},{"container-title":"HP:0011779","author":[{"family":"Anaplastic thyroid carcinoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011779","type":"entry-dictionary","title":"Anaplastic thyroid carcinoma"},{"container-title":"HP:0011780","author":[{"family":"Absence of a lobe of the thyroid gland related to a failure of its embryologic development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011780","type":"entry-dictionary","title":"Thyroid hemiagenesis"},{"container-title":"HP:0011781","author":[{"family":"An abnormal growth of parafollicular (C-cells) cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011781","type":"entry-dictionary","title":"Thyroid C cell hyperplasia"},{"container-title":"HP:0011782","author":[{"family":"Thyroid crisis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011782","type":"entry-dictionary","title":"Thyroid crisis"},{"container-title":"HP:0011783","author":[{"family":"Thyrotoxicosis from ectopic thyroid tissue"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011783","type":"entry-dictionary","title":"Thyrotoxicosis from ectopic thyroid tissue"},{"container-title":"HP:0011784","author":[{"family":"thyrotoxicosis with diffuse goitre"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011784","type":"entry-dictionary","title":"Thyrotoxicosis with diffuse goiter"},{"container-title":"HP:0011785","author":[{"family":"Thyrotoxicosis with toxic multinodular goitre"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011785","type":"entry-dictionary","title":"Thyrotoxicosis with toxic multinodular goitre"},{"container-title":"HP:0011786","author":[{"family":"Thyrotoxicosis with toxic single thyroid nodule"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011786","type":"entry-dictionary","title":"Thyrotoxicosis with toxic single thyroid nodule"},{"container-title":"HP:0011787","author":[{"family":"A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011787","type":"entry-dictionary","title":"Central hypothyroidism"},{"container-title":"HP:0011788","author":[{"family":"increased serum ft3"},{"family":"An elevated concentration of 3,3',5-triiodo-L-thyronine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011788","type":"entry-dictionary","title":"Increased serum free triiodothyronine"},{"container-title":"HP:0011789","author":[{"family":"tshr defect"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011789","type":"entry-dictionary","title":"Thyroid-stimulating hormone receptor defect"},{"container-title":"HP:0011790","author":[{"family":"activating tshr defect"},{"family":"Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011790","type":"entry-dictionary","title":"Activating thyroid-stimulating hormone receptor defect"},{"container-title":"HP:0011791","author":[{"family":"inactivating tshr defect"},{"family":"Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011791","type":"entry-dictionary","title":"Inactivating thyroid-stimulating hormone receptor defect"},{"container-title":"HP:0011792","author":[{"family":"Neoplasm categorized according to type of histological abnormality."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011792","type":"entry-dictionary","title":"Neoplasm by histology"},{"container-title":"HP:0011793","author":[{"family":"Neoplasm categorized according to the anatomical site of origin of the neoplasm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011793","type":"entry-dictionary","title":"Neoplasm by anatomical site"},{"container-title":"HP:0011794","author":[{"family":"The presence of an embryonal neoplasm of the kidney that primarily affects children."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011794","type":"entry-dictionary","title":"Embryonal renal neoplasm"},{"container-title":"HP:0011795","author":[{"family":"intralobar nephrogenic rests"},{"family":"Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011795","type":"entry-dictionary","title":"Intralobar nephroblastomatosis"},{"container-title":"HP:0011796","author":[{"family":"perilobar nephrogenic rests"},{"family":"Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011796","type":"entry-dictionary","title":"Perilobar nephroblastomatosis"},{"container-title":"HP:0011797","author":[{"family":"A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011797","type":"entry-dictionary","title":"Papillary renal cell carcinoma type 1"},{"container-title":"HP:0011798","author":[{"family":"A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011798","type":"entry-dictionary","title":"Renal oncocytoma"},{"container-title":"HP:0011799","author":[{"family":"deformity of facial soft tissue"},{"family":"abnormality of facial soft tissue"},{"family":"malformation of facial soft tissue"},{"family":"anomaly of facial soft tissue"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011799","type":"entry-dictionary","title":"Abnormality of facial soft tissue"},{"container-title":"HP:0011800","author":[{"family":"midface retrusion"},{"family":"small midface"},{"family":"hypotrophic midface"},{"family":"midface hypoplasia"},{"family":"underdevelopment of midface"},{"family":"flat midface"},{"family":"midface deficiency"},{"family":"decreased size of midface"},{"family":"retrusive midface"},{"family":"midface, flat"},{"family":"hypoplasia of midface"},{"family":"decreased projection of midface"},{"family":"Posterior positions and\/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and\/or reduced nasolabial angle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011800","type":"entry-dictionary","title":"Midface retrusion"},{"container-title":"HP:0011801","author":[{"family":"hypertrophy of parotid gland"},{"family":"increased size of parotid gland"},{"family":"hyperplasia of parotid gland"},{"family":"Increased size of the parotid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011801","type":"entry-dictionary","title":"Enlargement of parotid gland"},{"container-title":"HP:0011802","author":[{"family":"lingual hamartoma"},{"family":"A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011802","type":"entry-dictionary","title":"Hamartoma of tongue"},{"container-title":"HP:0011803","author":[{"family":"bifid nasal bridge"},{"family":"cleft nose"},{"family":"cleft nasal bridge"},{"family":"indented bridge of nose"},{"family":"Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011803","type":"entry-dictionary","title":"Bifid nose"},{"container-title":"HP:0011804","author":[{"family":"issue with muscle function"},{"family":"A functional abnormality of a skeletal muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011804","type":"entry-dictionary","title":"Abnormality of muscle physiology"},{"container-title":"HP:0011805","author":[{"family":"abnormally shaped muscle"},{"family":"issue with muscle structure"},{"family":"A structural abnormality of a skeletal muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011805","type":"entry-dictionary","title":"Abnormality of muscle morphology"},{"container-title":"HP:0011807","author":[{"family":"Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011807","type":"entry-dictionary","title":"Type 1 muscle fiber atrophy"},{"container-title":"HP:0011808","author":[{"family":"decreased knee jerk reflex"},{"family":"decreased patellar reflexes"},{"family":"Decreased intensity of the patellar reflex (also known as the knee jerk reflex)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011808","type":"entry-dictionary","title":"Decreased patellar reflex"},{"container-title":"HP:0011809","author":[{"family":"A type of myotonia that worsens with repeated muscle contractions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011809","type":"entry-dictionary","title":"Paradoxical myotonia"},{"container-title":"HP:0011810","author":[{"family":"A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011810","type":"entry-dictionary","title":"Impaired two-point discrimination"},{"container-title":"HP:0011811","author":[{"family":"impaired topognosis"},{"family":"impaired touch localisation"},{"family":"A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011811","type":"entry-dictionary","title":"Impaired touch localization"},{"container-title":"HP:0011812","author":[{"family":"Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011812","type":"entry-dictionary","title":"Agraphesthesia"},{"container-title":"HP:0011813","author":[{"family":"Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011813","type":"entry-dictionary","title":"Increased cerebral lipofuscin"},{"container-title":"HP:0011814","author":[{"family":"An increased level of hypoxanthine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011814","type":"entry-dictionary","title":"Increased urinary hypoxanthine"},{"container-title":"HP:0011815","author":[{"family":"A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011815","type":"entry-dictionary","title":"Cephalocele"},{"container-title":"HP:0011816","author":[{"family":"An encephalocele located between bregma and lambda."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011816","type":"entry-dictionary","title":"Parietal encephalocele"},{"container-title":"HP:0011817","author":[{"family":"Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011817","type":"entry-dictionary","title":"Basal encephalocele"},{"container-title":"HP:0011818","author":[{"family":"naso-frontal encephalocele"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011818","type":"entry-dictionary","title":"Nasofrontal encephalocele"},{"container-title":"HP:0011819","author":[{"family":"submucous cleft velum"},{"family":"partial thickness cleft soft palate"},{"family":"A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011819","type":"entry-dictionary","title":"Submucous cleft soft palate"},{"container-title":"HP:0011820","author":[{"family":"Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011820","type":"entry-dictionary","title":"Membranous choanal atresia"},{"container-title":"HP:0011821","author":[{"family":"abnormality of facial skeleton"},{"family":"abnormality of facial bones"},{"family":"anomaly of facial bones"},{"family":"deformity of facial skeleton"},{"family":"deformity of the facial bones"},{"family":"malformation of facial bones"},{"family":"anomaly of facial skeleton"},{"family":"malformation of facial skeleton"},{"family":"An abnormality of one or more of the set of bones that make up the facial skeleton."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011821","type":"entry-dictionary","title":"Abnormality of facial skeleton"},{"container-title":"HP:0011822","author":[{"family":"increased width of menton region"},{"family":"wide chin"},{"family":"broad chin"},{"family":"increased width of chin"},{"family":"Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011822","type":"entry-dictionary","title":"Broad chin"},{"container-title":"HP:0011823","author":[{"family":"chin with horizontal furrow"},{"family":"chin with horizontal groove"},{"family":"chin with horizontal sulcus"},{"family":"chin with horizontal crease"},{"family":"horizontal chin skin cleft"},{"family":"horizontal menton crease"},{"family":"Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011823","type":"entry-dictionary","title":"Chin with horizontal crease"},{"container-title":"HP:0011824","author":[{"family":"chin, h-shaped crease"},{"family":"chin with h-shaped crease"},{"family":"chin, h-shaped groove"},{"family":"h-shaped dimple of the chin"},{"family":"H-shaped crease in the fat pad of the chin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011824","type":"entry-dictionary","title":"Chin with H-shaped crease"},{"container-title":"HP:0011825","author":[{"family":"philtrum, tented"},{"family":"Prominence of a triangular soft tissue area of the philtrum with the apex to the columella."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011825","type":"entry-dictionary","title":"Tented philtrum"},{"container-title":"HP:0011826","author":[{"family":"philtrum, midline raphe"},{"family":"philtrum with midline ridge"},{"family":"philtrum with central raphe"},{"family":"Narrow ridge in the midline of the philtral groove."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011826","type":"entry-dictionary","title":"Philtrum with midline raphe"},{"container-title":"HP:0011827","author":[{"family":"asymmetric philtral columns"},{"family":"malaligned philtral columns"},{"family":"asymmetric philtral ridges"},{"family":"philtral ridges, malaligned"},{"family":"Absence of the usual parallel position of philtral ridges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011827","type":"entry-dictionary","title":"Malaligned philtral ridges"},{"container-title":"HP:0011828","author":[{"family":"central sinus of philtrum"},{"family":"philtrum, midline sinus"},{"family":"Pit in the midline of the philtral groove."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011828","type":"entry-dictionary","title":"Midline sinus of philtrum"},{"container-title":"HP:0011829","author":[{"family":"decreased horizontal dimension of philtrum"},{"family":"decreased transverse dimension of philtrum"},{"family":"philtrum, narrow"},{"family":"thin philtrum"},{"family":"decreased breadth of philtrum"},{"family":"decreased width of philtrum"},{"family":"Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011829","type":"entry-dictionary","title":"Narrow philtrum"},{"container-title":"HP:0011830","author":[{"family":"abnormality of mucosa of mouth"},{"family":"abnormality of oral mucous membrane"},{"family":"abnormality of lining of mouth"},{"family":"Abnormality of the oral mucosa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011830","type":"entry-dictionary","title":"Abnormality of oral mucosa"},{"container-title":"HP:0011831","author":[{"family":"deviated nasal tip"},{"family":"asymmetry of nasal tip"},{"family":"deviated tip of nose"},{"family":"distortion of the nasal tip"},{"family":"asymmetry of tip of nose"},{"family":"crooked tip of nose"},{"family":"crooked nasal tip"},{"family":"nasal tip, deviated"},{"family":"Nasal tip positioned to one side of the midline."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011831","type":"entry-dictionary","title":"Deviated nasal tip"},{"container-title":"HP:0011832","author":[{"family":"nasal tip, narrow"},{"family":"thin tip of nose"},{"family":"thin nasal tip"},{"family":"pinched nasal tip"},{"family":"pinched tip of nose"},{"family":"narrow nasal tip"},{"family":"narrow tip of nose"},{"family":"nasal tip, pinched"},{"family":"Decrease in width of the nasal tip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011832","type":"entry-dictionary","title":"Narrow nasal tip"},{"container-title":"HP:0011833","author":[{"family":"nasal tip, overhanging"},{"family":"drooping nasal tip"},{"family":"overhanging nasal tip"},{"family":"hooked tip of nose"},{"family":"low hanging nasal tip"},{"family":"Positioning of the nasal tip inferior to the nasal base."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011833","type":"entry-dictionary","title":"Overhanging nasal tip"},{"container-title":"HP:0011834","author":[{"family":"A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011834","type":"entry-dictionary","title":"Moyamoya phenomenon"},{"container-title":"HP:0011835","author":[{"family":"missing scaphoid bone"},{"family":"absent scaphoid bone"},{"family":"Congenital absence of the scaphoid.."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011835","type":"entry-dictionary","title":"Absent scaphoid"},{"container-title":"HP:0011836","author":[{"family":"Delayed maturation and calcification of the talus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011836","type":"entry-dictionary","title":"Delayed talus ossification"},{"container-title":"HP:0011837","author":[{"family":"Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011837","type":"entry-dictionary","title":"Partial IgA deficiency"},{"container-title":"HP:0011838","author":[{"family":"Localized thickening and tightness of the skin of the fingers or toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011838","type":"entry-dictionary","title":"Sclerodactyly"},{"container-title":"HP:0011839","author":[{"family":"abnormality of t cell number"},{"family":"abnormal number of t cells"},{"family":"A deviation from the normal count of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011839","type":"entry-dictionary","title":"Abnormal T cell count"},{"container-title":"HP:0011840","author":[{"family":"A functional anomaly of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011840","type":"entry-dictionary","title":"Abnormality of T cell physiology"},{"container-title":"HP:0011841","author":[{"family":"A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats\/min) with a large oscillating sine-wave appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011841","type":"entry-dictionary","title":"Ventricular flutter"},{"container-title":"HP:0011842","author":[{"family":"abnormally shaped skeletal"},{"family":"An abnormality of the form, structure, or size of the skeletal system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011842","type":"entry-dictionary","title":"Abnormality of skeletal morphology"},{"container-title":"HP:0011843","author":[{"family":"An abnormality of the function of the skeletal system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011843","type":"entry-dictionary","title":"Abnormality of skeletal physiology"},{"container-title":"HP:0011844","author":[{"family":"An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011844","type":"entry-dictionary","title":"Abnormal appendicular skeleton morphology"},{"container-title":"HP:0011845","author":[{"family":"short 2nd long bone of foot"},{"family":"Short (hypoplastic) second metatarsal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011845","type":"entry-dictionary","title":"Short second metatarsal"},{"container-title":"HP:0011846","author":[{"family":"A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011846","type":"entry-dictionary","title":"Osteoblastoma"},{"container-title":"HP:0011847","author":[{"family":"A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011847","type":"entry-dictionary","title":"Giant cell tumor of bone"},{"container-title":"HP:0011848","author":[{"family":"A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011848","type":"entry-dictionary","title":"Abdominal colic"},{"container-title":"HP:0011849","author":[{"family":"abnormal bone maturation"},{"family":"Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011849","type":"entry-dictionary","title":"Abnormal bone ossification"},{"container-title":"HP:0011850","author":[{"family":"Inflammation of the parotid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011850","type":"entry-dictionary","title":"Parotitis"},{"container-title":"HP:0011851","author":[{"family":"Accumulation of blood within the pericardial sac."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011851","type":"entry-dictionary","title":"Hemopericardium"},{"container-title":"HP:0011852","author":[{"family":"Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011852","type":"entry-dictionary","title":"Chylopericardium"},{"container-title":"HP:0011853","author":[{"family":"Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011853","type":"entry-dictionary","title":"Serous pericardial effusion"},{"container-title":"HP:0011854","author":[{"family":"hematoperitoneum"},{"family":"Accumulation of blood in the peritoneal cavity owing to internal hemorrhage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011854","type":"entry-dictionary","title":"Hemoperitoneum"},{"container-title":"HP:0011855","author":[{"family":"throat swelling"},{"family":"Abnormal accumulation of fluid leading to swelling of the pharynx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011855","type":"entry-dictionary","title":"Pharyngeal edema"},{"container-title":"HP:0011856","author":[{"family":"An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011856","type":"entry-dictionary","title":"Pica"},{"container-title":"HP:0011857","author":[{"family":"A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011857","type":"entry-dictionary","title":"Plasmacytoma"},{"container-title":"HP:0011858","author":[{"family":"low factor ix activity"},{"family":"Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011858","type":"entry-dictionary","title":"Reduced factor IX activity"},{"container-title":"HP:0011859","author":[{"family":"A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011859","type":"entry-dictionary","title":"Punctate keratitis"},{"container-title":"HP:0011860","author":[{"family":"dappled metaphyseal sclerosis"},{"family":"The presence of spots or rounded patches of abnormally increased density of metaphyseal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011860","type":"entry-dictionary","title":"Metaphyseal dappling"},{"container-title":"HP:0011861","author":[{"family":"Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011861","type":"entry-dictionary","title":"Bilateral trilobed lungs"},{"container-title":"HP:0011862","author":[{"family":"Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011862","type":"entry-dictionary","title":"Abnormal bone collagen fibril morphology"},{"container-title":"HP:0011863","author":[{"family":"abnormal maturation of breastbone"},{"family":"sternal ossification center abnormalities"},{"family":"Any anomaly in the formation of the bony substance of the sternum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011863","type":"entry-dictionary","title":"Abnormal sternal ossification"},{"container-title":"HP:0011864","author":[{"family":"An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011864","type":"entry-dictionary","title":"Elevated plasma pyrophosphate"},{"container-title":"HP:0011867","author":[{"family":"An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011867","type":"entry-dictionary","title":"Abnormality of the wing of the ilium"},{"container-title":"HP:0011868","author":[{"family":"Pain in the lower back and hip radiating in the distribution of the sciatic nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011868","type":"entry-dictionary","title":"Sciatica"},{"container-title":"HP:0011869","author":[{"family":"Any anomaly in the function of thrombocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011869","type":"entry-dictionary","title":"Abnormal platelet function"},{"container-title":"HP:0011870","author":[{"family":"Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011870","type":"entry-dictionary","title":"Impaired arachidonic acid-induced platelet aggregation"},{"container-title":"HP:0011871","author":[{"family":"Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011871","type":"entry-dictionary","title":"Impaired ristocetin-induced platelet aggregation"},{"container-title":"HP:0011872","author":[{"family":"Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011872","type":"entry-dictionary","title":"Impaired thrombin-induced platelet aggregation"},{"container-title":"HP:0011873","author":[{"family":"Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011873","type":"entry-dictionary","title":"Abnormal platelet count"},{"container-title":"HP:0011874","author":[{"family":"Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011874","type":"entry-dictionary","title":"Heparin-induced thrombocytopenia"},{"container-title":"HP:0011875","author":[{"family":"abnormal shape of platelets"},{"family":"An anomaly in platelet form, ultrastructure, or intracellular organelles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011875","type":"entry-dictionary","title":"Abnormal platelet morphology"},{"container-title":"HP:0011876","author":[{"family":"Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011876","type":"entry-dictionary","title":"Abnormal platelet volume"},{"container-title":"HP:0011877","author":[{"family":"large platelets"},{"family":"Average platelet volume above the upper limit of the normal reference interval."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011877","type":"entry-dictionary","title":"Increased mean platelet volume"},{"container-title":"HP:0011878","author":[{"family":"Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011878","type":"entry-dictionary","title":"Abnormal platelet membrane protein expression"},{"container-title":"HP:0011879","author":[{"family":"Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011879","type":"entry-dictionary","title":"Decreased platelet glycoprotein Ib-IX-V"},{"container-title":"HP:0011880","author":[{"family":"An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011880","type":"entry-dictionary","title":"Acute disseminated intravascular coagulation"},{"container-title":"HP:0011881","author":[{"family":"Decreased cell membrane concentration of glycoprotein VI."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011881","type":"entry-dictionary","title":"Decreased platelet glycoprotein VI"},{"container-title":"HP:0011882","author":[{"family":"Decreased cell membrane concentration of P2Y12 receptor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011882","type":"entry-dictionary","title":"Decreased platelet P2Y12 receptor"},{"container-title":"HP:0011883","author":[{"family":"An anomaly of alpha or dense granules or platelet lysosomes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011883","type":"entry-dictionary","title":"Abnormal platelet granules"},{"container-title":"HP:0011884","author":[{"family":"Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011884","type":"entry-dictionary","title":"Abnormal umbilical stump bleeding"},{"container-title":"HP:0011885","author":[{"family":"haemorrhage of the eye"},{"family":"bleeding from the eye"},{"family":"Bleeding from vessels of the various tissues of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011885","type":"entry-dictionary","title":"Hemorrhage of the eye"},{"container-title":"HP:0011886","author":[{"family":"Bleeding in the anterior chamber of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011886","type":"entry-dictionary","title":"Hyphema"},{"container-title":"HP:0011887","author":[{"family":"choroidal hemorrhage"},{"family":"Hemorrhage from the vessels of the choroid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011887","type":"entry-dictionary","title":"Choroid hemorrhage"},{"container-title":"HP:0011888","author":[{"family":"bleeding requiring red cell transfusion"},{"family":"Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011888","type":"entry-dictionary","title":"Bleeding requiring red cell transfusion"},{"container-title":"HP:0011889","author":[{"family":"bleeding with minor or no trauma"},{"family":"easy bleeding"},{"family":"Significant bleeding or hemorrhage without significant precipitating factor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011889","type":"entry-dictionary","title":"Bleeding with minor or no trauma"},{"container-title":"HP:0011890","author":[{"family":"prolonged bleeding following procedure"},{"family":"Prolonged or protracted bleeding following an invasive procedure or intervention."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011890","type":"entry-dictionary","title":"Prolonged bleeding following procedure"},{"container-title":"HP:0011891","author":[{"family":"post-partum haemorrhage"},{"family":"bleeding poost-delivery"},{"family":"Significant maternal haemorrhage\/blood loss following deilvery of a child."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011891","type":"entry-dictionary","title":"Post-partum hemorrhage"},{"container-title":"HP:0011892","author":[{"family":"Vitamin K deficiency"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011892","type":"entry-dictionary","title":"Vitamin K deficiency"},{"container-title":"HP:0011893","author":[{"family":"abnormal white blood cell count"},{"family":"Number of leukocytes per volume of blood beyond normal limits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011893","type":"entry-dictionary","title":"Abnormal leukocyte count"},{"container-title":"HP:0011894","author":[{"family":"Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011894","type":"entry-dictionary","title":"Impaired thromboxane A2 agonist-induced platelet aggregation"},{"container-title":"HP:0011895","author":[{"family":"anaemia due to reduced life span of red cells"},{"family":"A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011895","type":"entry-dictionary","title":"Anemia due to reduced life span of red cells"},{"container-title":"HP:0011896","author":[{"family":"subconjunctival haemorrhage"},{"family":"Bleeding beneath the mucous membrane that lines the inner surface of the eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011896","type":"entry-dictionary","title":"Subconjunctival hemorrhage"},{"container-title":"HP:0011897","author":[{"family":"increased blood neutrophil counts"},{"family":"Increased number of neutrophils circulating in blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011897","type":"entry-dictionary","title":"Neutrophilia"},{"container-title":"HP:0011898","author":[{"family":"An abnormality of the level of activity of circulating fibrinogen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011898","type":"entry-dictionary","title":"Abnormality of circulating fibrinogen"},{"container-title":"HP:0011899","author":[{"family":"Increased concentration of fibrinogen in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011899","type":"entry-dictionary","title":"Hyperfibrinogenemia"},{"container-title":"HP:0011900","author":[{"family":"low fibrinogen activity"},{"family":"low fibrinogen level"},{"family":"Decreased concentration of fibrinogen in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011900","type":"entry-dictionary","title":"Hypofibrinogenemia"},{"container-title":"HP:0011901","author":[{"family":"dysfibrinogenaemia"},{"family":"Qualitatively abnormal fibrinogen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011901","type":"entry-dictionary","title":"Dysfibrinogenemia"},{"container-title":"HP:0011902","author":[{"family":"Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011902","type":"entry-dictionary","title":"Abnormal hemoglobin"},{"container-title":"HP:0011903","author":[{"family":"Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011903","type":"entry-dictionary","title":"Hemoglobin H"},{"container-title":"HP:0011904","author":[{"family":"increased hemoglobin f"},{"family":"Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011904","type":"entry-dictionary","title":"Persistence of hemoglobin F"},{"container-title":"HP:0011905","author":[{"family":"Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011905","type":"entry-dictionary","title":"Reduced hemoglobin A"},{"container-title":"HP:0011906","author":[{"family":"A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011906","type":"entry-dictionary","title":"Reduced beta\/alpha synthesis ratio"},{"container-title":"HP:0011907","author":[{"family":"A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011907","type":"entry-dictionary","title":"Reduced alpha\/beta synthesis ratio"},{"container-title":"HP:0011908","author":[{"family":"Missing radius bone on one side only associated with congenital failure of development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011908","type":"entry-dictionary","title":"Unilateral radial aplasia"},{"container-title":"HP:0011909","author":[{"family":"flattened head of long bone of hand"},{"family":"Abnormally flat shape of the heads of the metacarpal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011909","type":"entry-dictionary","title":"Flattened metacarpal heads"},{"container-title":"HP:0011910","author":[{"family":"shortening of all finger bones"},{"family":"Abnormal reduction in length affecting all phalanges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011910","type":"entry-dictionary","title":"Shortening of all phalanges of fingers"},{"container-title":"HP:0011911","author":[{"family":"abnormality of the knuckle"},{"family":"An anomaly of a metacarpophalangeal joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011911","type":"entry-dictionary","title":"Abnormality of metacarpophalangeal joint"},{"container-title":"HP:0011912","author":[{"family":"An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011912","type":"entry-dictionary","title":"Abnormality of the glenoid fossa"},{"container-title":"HP:0011913","author":[{"family":"Excessive, increased hair growth located in the lumbar region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011913","type":"entry-dictionary","title":"Lumbar hypertrichosis"},{"container-title":"HP:0011914","author":[{"family":"Excessive, increased hair growth located in the thoracic region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011914","type":"entry-dictionary","title":"Thoracic hypertrichosis"},{"container-title":"HP:0011915","author":[{"family":"Abnormal calcification in the cardiovascular system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011915","type":"entry-dictionary","title":"Cardiovascular calcification"},{"container-title":"HP:0011916","author":[{"family":"Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011916","type":"entry-dictionary","title":"Toe extensor amyotrophy"},{"container-title":"HP:0011917","author":[{"family":"short fifth toe"},{"family":"short little toe"},{"family":"short pinky toe"},{"family":"short pinkie toe"},{"family":"Underdevelopment (hypoplasia) of the fifth toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011917","type":"entry-dictionary","title":"Short 5th toe"},{"container-title":"HP:0011918","author":[{"family":"4th toe clinodactyly"},{"family":"curvature of 4th toe"},{"family":"Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011918","type":"entry-dictionary","title":"Clinodactyly of the 4th toe"},{"container-title":"HP:0011919","author":[{"family":"pyothorax"},{"family":"Accumulation of pus in the pleural cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011919","type":"entry-dictionary","title":"Pleural empyema"},{"container-title":"HP:0011920","author":[{"family":"A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011920","type":"entry-dictionary","title":"Transudative pleural effusion"},{"container-title":"HP:0011921","author":[{"family":"A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011921","type":"entry-dictionary","title":"Exudative pleural effusion"},{"container-title":"HP:0011922","author":[{"family":"An increased or decreased activity of the mitochondrial respiratory chain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011922","type":"entry-dictionary","title":"Abnormal activity of mitochondrial respiratory chain"},{"container-title":"HP:0011923","author":[{"family":"respiratory complex i deficiency"},{"family":"A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011923","type":"entry-dictionary","title":"Decreased activity of mitochondrial complex I"},{"container-title":"HP:0011924","author":[{"family":"respiratory complex iii deficiency"},{"family":"A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011924","type":"entry-dictionary","title":"Decreased activity of mitochondrial complex III"},{"container-title":"HP:0011925","author":[{"family":"respiratory complex deficiency, atpase deficiency"},{"family":"A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011925","type":"entry-dictionary","title":"Decreased activity of mitochondrial ATP synthase complex"},{"container-title":"HP:0011926","author":[{"family":"proximal placement of big toe"},{"family":"Proximal mislocalization of the big toe from its normal position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011926","type":"entry-dictionary","title":"Proximal placement of hallux"},{"container-title":"HP:0011927","author":[{"family":"very short digits"},{"family":"One or more digit that appears disproportionately short compared to the hand\/foot, whereby either the entire digit or a specific phalanx is shortened."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011927","type":"entry-dictionary","title":"Short digit"},{"container-title":"HP:0011928","author":[{"family":"short innermost toe bone"},{"family":"Developmental hypoplasia (shortening) of proximal phalanx of toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011928","type":"entry-dictionary","title":"Short proximal phalanx of toe"},{"container-title":"HP:0011929","author":[{"family":"Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011929","type":"entry-dictionary","title":"Hypersegmentation of proximal phalanx of third finger"},{"container-title":"HP:0011930","author":[{"family":"stretchable chest skin"},{"family":"hyperelastic chest skin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011930","type":"entry-dictionary","title":"Hyperextensible skin of chest"},{"container-title":"HP:0011931","author":[{"family":"An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011931","type":"entry-dictionary","title":"Abnormality of the cerebellar peduncle"},{"container-title":"HP:0011932","author":[{"family":"An anomaly of the superior cerebellar peduncle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011932","type":"entry-dictionary","title":"Abnormality of the superior cerebellar peduncle"},{"container-title":"HP:0011933","author":[{"family":"elongated superior cerebellar peduncles"},{"family":"long cerebellar peduncles"},{"family":"Increased length of the superior cerebellar peduncle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011933","type":"entry-dictionary","title":"Elongated superior cerebellar peduncle"},{"container-title":"HP:0011934","author":[{"family":"mesenteric artery aneurysm"},{"family":"Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery ."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011934","type":"entry-dictionary","title":"Dilatation of mesenteric artery"},{"container-title":"HP:0011935","author":[{"family":"Decreased concentration of urate in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011935","type":"entry-dictionary","title":"Decreased urinary urate"},{"container-title":"HP:0011936","author":[{"family":"decreased plasma total carnitine"},{"family":"A decreased concentration of total carnitine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011936","type":"entry-dictionary","title":"Decreased plasma total carnitine"},{"container-title":"HP:0011937","author":[{"family":"underdeveloped fifth toenail"},{"family":"small fifth toenail"},{"family":"Underdeveloped nails of the fifth toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011937","type":"entry-dictionary","title":"Hypoplastic fifth toenail"},{"container-title":"HP:0011939","author":[{"family":"webbed 3rd-4th finger"},{"family":"A soft tissue continuity in the A\/P axis between fingers 4 and 4."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011939","type":"entry-dictionary","title":"3-4 finger cutaneous syndactyly"},{"container-title":"HP:0011940","author":[{"family":"wedge-shaped 12th thoracic vertebra"},{"family":"anterior wedging of the 12th thoracic vertebra"},{"family":"An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011940","type":"entry-dictionary","title":"Anterior wedging of T12"},{"container-title":"HP:0011941","author":[{"family":"An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011941","type":"entry-dictionary","title":"Anterior wedging of L2"},{"container-title":"HP:0011942","author":[{"family":"Increased concentration of SO3(2-), i.e., sulfite, in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011942","type":"entry-dictionary","title":"Increased urinary sulfite"},{"container-title":"HP:0011943","author":[{"family":"Increased concentration of thiosulfate(2-) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011943","type":"entry-dictionary","title":"Increased urinary thiosulfate"},{"container-title":"HP:0011944","author":[{"family":"A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011944","type":"entry-dictionary","title":"Small vessel vasculitis"},{"container-title":"HP:0011945","author":[{"family":"boop"},{"family":"cryptogenic organizing pneumonia"},{"family":"Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011945","type":"entry-dictionary","title":"Bronchiolitis obliterans organizing pneumonia"},{"container-title":"HP:0011946","author":[{"family":"constrictive bronchiolitis"},{"family":"obliterative bonchiolitis"},{"family":"Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011946","type":"entry-dictionary","title":"Bronchiolitis obliterans"},{"container-title":"HP:0011947","author":[{"family":"respiratory tract infection"},{"family":"respiratory infections"},{"family":"An infection of the upper or lower respiratory tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011947","type":"entry-dictionary","title":"Respiratory tract infection"},{"container-title":"HP:0011948","author":[{"family":"acute respiratory tract infection"},{"family":"An acute infection of the upper or lower respiratory tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011948","type":"entry-dictionary","title":"Acute respiratory tract infection"},{"container-title":"HP:0011949","author":[{"family":"Acute inflammation of the lung due to an infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011949","type":"entry-dictionary","title":"Acute infectious pneumonia"},{"container-title":"HP:0011950","author":[{"family":"Inflammation of the bronchioles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011950","type":"entry-dictionary","title":"Bronchiolitis"},{"container-title":"HP:0011951","author":[{"family":"Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011951","type":"entry-dictionary","title":"Aspiration pneumonia"},{"container-title":"HP:0011952","author":[{"family":"An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011952","type":"entry-dictionary","title":"Acute aspiration pneumonia"},{"container-title":"HP:0011953","author":[{"family":"Lung parenchymal involvement with lymphoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011953","type":"entry-dictionary","title":"Pulmonary lymphoma"},{"container-title":"HP:0011954","author":[{"family":"noncirrhotic nodulation"},{"family":"partial nodular transformation of liver"},{"family":"Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011954","type":"entry-dictionary","title":"Nodular regenerative hyperplasia of liver"},{"container-title":"HP:0011955","author":[{"family":"The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011955","type":"entry-dictionary","title":"Hepatic granulomatosis"},{"container-title":"HP:0011956","author":[{"family":"A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011956","type":"entry-dictionary","title":"Intestinal lymphoid nodular hyperplasia"},{"container-title":"HP:0011957","author":[{"family":"abnormal pec muscles"},{"family":"An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011957","type":"entry-dictionary","title":"Abnormality of the pectoral muscle"},{"container-title":"HP:0011958","author":[{"family":"retinal tear"},{"family":"torn retina"},{"family":"A small hole through the whole thickness of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011958","type":"entry-dictionary","title":"Retinal perforation"},{"container-title":"HP:0011959","author":[{"family":"underdeveloped pec muscle on one side"},{"family":"small pec muscle on one side"},{"family":"Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011959","type":"entry-dictionary","title":"Unilateral hypoplasia of pectoralis major muscle"},{"container-title":"HP:0011960","author":[{"family":"Focal proliferation of glial cells in the substantia nigra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011960","type":"entry-dictionary","title":"Substantia nigra gliosis"},{"container-title":"HP:0011961","author":[{"family":"testicular azoospermia"},{"family":"Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011961","type":"entry-dictionary","title":"Non-obstructive azoospermia"},{"container-title":"HP:0011962","author":[{"family":"Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011962","type":"entry-dictionary","title":"Obstructive azoospermia"},{"container-title":"HP:0011963","author":[{"family":"Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011963","type":"entry-dictionary","title":"Pretesticular azoospermia"},{"container-title":"HP:0011964","author":[{"family":"History of repeated intermittent involuntary muscle contractions that were painful."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011964","type":"entry-dictionary","title":"Intermittent painful muscle spasms"},{"container-title":"HP:0011965","author":[{"family":"Abnormality of a metabolism or concentration of citrulline."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011965","type":"entry-dictionary","title":"Abnormality of citrulline metabolism"},{"container-title":"HP:0011966","author":[{"family":"An increased concentration of citrulline in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011966","type":"entry-dictionary","title":"Elevated plasma citrulline"},{"container-title":"HP:0011967","author":[{"family":"copper deficiency"},{"family":"A reduced concentration of copper in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011967","type":"entry-dictionary","title":"Hypocupremia"},{"container-title":"HP:0011968","author":[{"family":"feeding problems"},{"family":"feeding difficulties"},{"family":"poor feeding"},{"family":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011968","type":"entry-dictionary","title":"Feeding difficulties"},{"container-title":"HP:0011969","author":[{"family":"increased circulating luteinizing hormone level"},{"family":"elevated luteinizing hormone"},{"family":"elevated lh level"},{"family":"An elevated concentration of luteinizing hormone in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011969","type":"entry-dictionary","title":"Elevated circulating luteinizing hormone level"},{"container-title":"HP:0011970","author":[{"family":"Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011970","type":"entry-dictionary","title":"Cerebral amyloid angiopathy"},{"container-title":"HP:0011971","author":[{"family":"dermographism"},{"family":"dermatographism"},{"family":"An exaggerated wealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011971","type":"entry-dictionary","title":"Dermatographic urticaria"},{"container-title":"HP:0011972","author":[{"family":"low glucose levels in cerebral spinal fluid"},{"family":"decreased csf glucose"},{"family":"Abnormally low glucose concentration content in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011972","type":"entry-dictionary","title":"Hypoglycorrhachia"},{"container-title":"HP:0011973","author":[{"family":"Repeated episodes of sudden-onset and transient lethargy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011973","type":"entry-dictionary","title":"Paroxysmal lethargy"},{"container-title":"HP:0011974","author":[{"family":"Replacement of bone marrow by fibrous tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011974","type":"entry-dictionary","title":"Myelofibrosis"},{"container-title":"HP:0011975","author":[{"family":"Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011975","type":"entry-dictionary","title":"Aminoglycoside-induced hearing loss"},{"container-title":"HP:0011976","author":[{"family":"elevated urinary catecholamines"},{"family":"An increased concentration of catecholamine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011976","type":"entry-dictionary","title":"Elevated urinary catecholamines"},{"container-title":"HP:0011977","author":[{"family":"increased urinary homovanillic acid"},{"family":"An increased concentration of homovanillic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011977","type":"entry-dictionary","title":"Elevated urinary homovanillic acid"},{"container-title":"HP:0011978","author":[{"family":"increased urinary vanillylmandelic acid"},{"family":"An increased concentration of vanillylmandelic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011978","type":"entry-dictionary","title":"Elevated urinary vanillylmandelic acid"},{"container-title":"HP:0011979","author":[{"family":"elevated urinary dopamine"},{"family":"An increased concentration of dopamine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011979","type":"entry-dictionary","title":"Elevated urinary dopamine"},{"container-title":"HP:0011980","author":[{"family":"Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green\/brown color."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011980","type":"entry-dictionary","title":"Cholesterol gallstones"},{"container-title":"HP:0011981","author":[{"family":"Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011981","type":"entry-dictionary","title":"Pigment gallstones"},{"container-title":"HP:0011982","author":[{"family":"A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011982","type":"entry-dictionary","title":"Black pigment gallstones"},{"container-title":"HP:0011983","author":[{"family":"A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011983","type":"entry-dictionary","title":"Brown pigment gallstones"},{"container-title":"HP:0011984","author":[{"family":"gallbladder atresia"},{"family":"Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011984","type":"entry-dictionary","title":"Atretic gallbladder"},{"container-title":"HP:0011985","author":[{"family":"discolored, acholic stools"},{"family":"acholia"},{"family":"clay colored stools"},{"family":"Clay colored stools lacking bile pigment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011985","type":"entry-dictionary","title":"Acholic stools"},{"container-title":"HP:0011986","author":[{"family":"ectopic bone formation"},{"family":"heterotopic ossification"},{"family":"Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011986","type":"entry-dictionary","title":"Ectopic ossification"},{"container-title":"HP:0011987","author":[{"family":"calcification of muscle tissue"},{"family":"Formation of abnormal bony tissue within muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011987","type":"entry-dictionary","title":"Ectopic ossification in muscle tissue"},{"container-title":"HP:0011988","author":[{"family":"Formation of abnormal bony tissue within tendon tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011988","type":"entry-dictionary","title":"Ectopic ossification in tendon tissue"},{"container-title":"HP:0011989","author":[{"family":"Formation of abnormal bony tissue within ligament tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011989","type":"entry-dictionary","title":"Ectopic ossification in ligament tissue"},{"container-title":"HP:0011990","author":[{"family":"A functional abnormality of neutrophils."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011990","type":"entry-dictionary","title":"Abnormality of neutrophil physiology"},{"container-title":"HP:0011991","author":[{"family":"abnormal neutrophil cell number"},{"family":"A deviation from the normal range of neutrophil cell counts in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011991","type":"entry-dictionary","title":"Abnormal neutrophil count"},{"container-title":"HP:0011992","author":[{"family":"An abnormal form or size of neutrophils."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011992","type":"entry-dictionary","title":"Abnormality of neutrophil morphology"},{"container-title":"HP:0011993","author":[{"family":"A reduction in the ability of neutrophils to kill bacteria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011993","type":"entry-dictionary","title":"Impaired neutrophil bactericidal activity"},{"container-title":"HP:0011994","author":[{"family":"abnormality of the atrial septum"},{"family":"abnormal interatrial septum morphology"},{"family":"An abnormality of the interatrial septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011994","type":"entry-dictionary","title":"Abnormal atrial septum morphology"},{"container-title":"HP:0011995","author":[{"family":"atrial septal aneurysm"},{"family":"A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011995","type":"entry-dictionary","title":"Atrial septal dilatation"},{"container-title":"HP:0011996","author":[{"family":"plasma factor v elevated"},{"family":"Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011996","type":"entry-dictionary","title":"Elevated factor V activity"},{"container-title":"HP:0011997","author":[{"family":"Abnormally increased level of blood lactate following a meal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011997","type":"entry-dictionary","title":"Postprandial hyperlactemia"},{"container-title":"HP:0011998","author":[{"family":"An increased concentration of glucose in the blood following a meal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011998","type":"entry-dictionary","title":"Postprandial hyperglycemia"},{"container-title":"HP:0011999","author":[{"family":"paranoia"},{"family":"A persecutory delusion of supposed hostility of others."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0011999","type":"entry-dictionary","title":"Paranoia"},{"container-title":"HP:0012000","author":[{"family":"EEG with generalized sharp transient waves of a duration less than 80 msec."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012000","type":"entry-dictionary","title":"EEG with generalized spikes"},{"container-title":"HP:0012001","author":[{"family":"EEG with repetitive generalized sharp transient waves of a duration less than 80 msec."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012001","type":"entry-dictionary","title":"EEG with generalized polyspikes"},{"container-title":"HP:0012002","author":[{"family":"Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012002","type":"entry-dictionary","title":"Experiential auras"},{"container-title":"HP:0012003","author":[{"family":"Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012003","type":"entry-dictionary","title":"Affective auras"},{"container-title":"HP:0012004","author":[{"family":"Auras which reflect ictal dysmnesia such as: feelings as familiarity (deja-vu) and unfamiliarity (jamais-vu)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012004","type":"entry-dictionary","title":"Mnemonic auras"},{"container-title":"HP:0012005","author":[{"family":"deja vu"},{"family":"A subjective feeling that an experience which is occurring for the first time has been experienced before."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012005","type":"entry-dictionary","title":"Deja vu"},{"container-title":"HP:0012006","author":[{"family":"A subjective feeling that an experience which has occurred before is being experienced for the first time."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012006","type":"entry-dictionary","title":"Jamais vu"},{"container-title":"HP:0012007","author":[{"family":"Auras with creation of composite perceptions without corresponding external stimuli involving visual, auditory, somatosensory, olfactory and\/or gustatory phenomena."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012007","type":"entry-dictionary","title":"Hallucinatory auras"},{"container-title":"HP:0012008","author":[{"family":"Auras with an alteration of actual percepts involving the visual, auditory, somatosensory, olfactory or gustatory systems."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012008","type":"entry-dictionary","title":"Illusory auras"},{"container-title":"HP:0012009","author":[{"family":"EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012009","type":"entry-dictionary","title":"EEG with central focal spike waves"},{"container-title":"HP:0012010","author":[{"family":"EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012010","type":"entry-dictionary","title":"EEG with frontal focal spike waves"},{"container-title":"HP:0012011","author":[{"family":"EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012011","type":"entry-dictionary","title":"EEG with occipital focal spike waves"},{"container-title":"HP:0012012","author":[{"family":"EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012012","type":"entry-dictionary","title":"EEG with parietal focal spike waves"},{"container-title":"HP:0012013","author":[{"family":"EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012013","type":"entry-dictionary","title":"EEG with temporal focal spike waves"},{"container-title":"HP:0012014","author":[{"family":"EEG with focal sharp transient waves of a duration less than 80 msec in the central region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012014","type":"entry-dictionary","title":"EEG with central focal spikes"},{"container-title":"HP:0012015","author":[{"family":"EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012015","type":"entry-dictionary","title":"EEG with frontal focal spikes"},{"container-title":"HP:0012016","author":[{"family":"EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012016","type":"entry-dictionary","title":"EEG with occipital focal spikes"},{"container-title":"HP:0012017","author":[{"family":"EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012017","type":"entry-dictionary","title":"EEG with parietal focal spikes"},{"container-title":"HP:0012018","author":[{"family":"EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012018","type":"entry-dictionary","title":"EEG with temporal focal spikes"},{"container-title":"HP:0012019","author":[{"family":"dislocated lenses"},{"family":"Complete dislocation of the lens of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012019","type":"entry-dictionary","title":"Lens luxation"},{"container-title":"HP:0012020","author":[{"family":"right-sided aortic arch"},{"family":"Aorta descends on right instead of on the left."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012020","type":"entry-dictionary","title":"Right aortic arch"},{"container-title":"HP:0012021","author":[{"family":"Persistence of blood flow through the ductus venosus for longer than the normal time after birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012021","type":"entry-dictionary","title":"Persistent patent ductus venosus"},{"container-title":"HP:0012022","author":[{"family":"A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012022","type":"entry-dictionary","title":"Congenital portosystemic venous shunt"},{"container-title":"HP:0012023","author":[{"family":"increased urinary galactose level"},{"family":"Elevated concentration of galactose in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012023","type":"entry-dictionary","title":"Galactosuria"},{"container-title":"HP:0012024","author":[{"family":"galactosemia"},{"family":"Elevated concentration of galactose in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012024","type":"entry-dictionary","title":"Hypergalactosemia"},{"container-title":"HP:0012025","author":[{"family":"Abnormality of a metabolism or concentration of ornithine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012025","type":"entry-dictionary","title":"Abnormality of ornithine metabolism"},{"container-title":"HP:0012026","author":[{"family":"high blood ornithine levels"},{"family":"Increased concentration of ornithine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012026","type":"entry-dictionary","title":"Hyperornithinemia"},{"container-title":"HP:0012027","author":[{"family":"An abnormal accumulation of fluid and swelling in the tissues of the larynx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012027","type":"entry-dictionary","title":"Laryngeal edema"},{"container-title":"HP:0012028","author":[{"family":"hepatic adenoma"},{"family":"liver cell adenoma"},{"family":"A benign tumor of the liver of presumably epithelial origin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012028","type":"entry-dictionary","title":"Hepatocellular adenoma"},{"container-title":"HP:0012029","author":[{"family":"An abnormal concentration of a hormone in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012029","type":"entry-dictionary","title":"Abnormality of urine hormone level"},{"container-title":"HP:0012030","author":[{"family":"high urine cortisol level"},{"family":"Abnormally increased concentration of cortisol in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012030","type":"entry-dictionary","title":"Increased urinary cortisol level"},{"container-title":"HP:0012031","author":[{"family":"Lipomatous tumor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012031","type":"entry-dictionary","title":"Lipomatous tumor"},{"container-title":"HP:0012032","author":[{"family":"Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012032","type":"entry-dictionary","title":"Lipoma"},{"container-title":"HP:0012033","author":[{"family":"Presence of a lipoma in the region of the sacrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012033","type":"entry-dictionary","title":"Sacral lipoma"},{"container-title":"HP:0012034","author":[{"family":"Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012034","type":"entry-dictionary","title":"Liposarcoma"},{"container-title":"HP:0012035","author":[{"family":"Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012035","type":"entry-dictionary","title":"Steatocystoma multiplex"},{"container-title":"HP:0012036","author":[{"family":"Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012036","type":"entry-dictionary","title":"Sternocleidomastoid amyotrophy"},{"container-title":"HP:0012037","author":[{"family":"wasting of pec muscles"},{"family":"Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012037","type":"entry-dictionary","title":"Pectoralis amyotrophy"},{"container-title":"HP:0012038","author":[{"family":"corneal endothelial guttata"},{"family":"Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012038","type":"entry-dictionary","title":"Corneal guttata"},{"container-title":"HP:0012039","author":[{"family":"Presence of folds in the Descement membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descement membrane folds are generally a manifestation of inflammation or edema of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012039","type":"entry-dictionary","title":"Descemet Membrane Folds"},{"container-title":"HP:0012040","author":[{"family":"Abnormal accumulation of fluid and swelling of the stroma of cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012040","type":"entry-dictionary","title":"Corneal stromal edema"},{"container-title":"HP:0012041","author":[{"family":"decreased fertility in males"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012041","type":"entry-dictionary","title":"Decreased fertility in males"},{"container-title":"HP:0012042","author":[{"family":"aspirin-induced asthma"},{"family":"A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012042","type":"entry-dictionary","title":"Aspirin-induced asthma"},{"container-title":"HP:0012043","author":[{"family":"nystagmus, continuous pendular"},{"family":"nystagmus, pendular"},{"family":"Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012043","type":"entry-dictionary","title":"Pendular nystagmus"},{"container-title":"HP:0012044","author":[{"family":"Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012044","type":"entry-dictionary","title":"Seesaw nystagmus"},{"container-title":"HP:0012045","author":[{"family":"Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012045","type":"entry-dictionary","title":"Retinal flecks"},{"container-title":"HP:0012046","author":[{"family":"Inability to elicit tendon reflexes in the upper limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012046","type":"entry-dictionary","title":"Areflexia of upper limbs"},{"container-title":"HP:0012047","author":[{"family":"day blindness"},{"family":"A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012047","type":"entry-dictionary","title":"Hemeralopia"},{"container-title":"HP:0012048","author":[{"family":"cranial dystonia"},{"family":"A kind of focal dystonia characterized by forceful contractions of the face, jaw, and\/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012048","type":"entry-dictionary","title":"Oromandibular dystonia"},{"container-title":"HP:0012049","author":[{"family":"spasmodic dysphonia"},{"family":"A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012049","type":"entry-dictionary","title":"Laryngeal dystonia"},{"container-title":"HP:0012050","author":[{"family":"extreme generalized edema"},{"family":"An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012050","type":"entry-dictionary","title":"Anasarca"},{"container-title":"HP:0012051","author":[{"family":"postprandial hypoglycemia"},{"family":"low blood sugar after a meal"},{"family":"Hypoglycermia following a meal (or more generally, after intake of glucose)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012051","type":"entry-dictionary","title":"Reactive hypoglycemia"},{"container-title":"HP:0012052","author":[{"family":"low serum 1,25-dihydroxycholecalciferol"},{"family":"low serum 1,25-dihydroxyvitamin d3"},{"family":"A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012052","type":"entry-dictionary","title":"Low serum calcitriol"},{"container-title":"HP:0012053","author":[{"family":"low serum 25-hydroxycholecalciferol"},{"family":"low serum calcidiol"},{"family":"A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012053","type":"entry-dictionary","title":"Low serum calcifediol"},{"container-title":"HP:0012054","author":[{"family":"Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012054","type":"entry-dictionary","title":"Choroidal melanoma"},{"container-title":"HP:0012055","author":[{"family":"Malignant tumor of melanocytes of the ciliary body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012055","type":"entry-dictionary","title":"Ciliary body melanoma"},{"container-title":"HP:0012056","author":[{"family":"The presence of a melanoma of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012056","type":"entry-dictionary","title":"Cutaneous melanoma"},{"container-title":"HP:0012057","author":[{"family":"A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012057","type":"entry-dictionary","title":"Superficial spreading melanoma"},{"container-title":"HP:0012058","author":[{"family":"A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012058","type":"entry-dictionary","title":"Nodular melanoma"},{"container-title":"HP:0012059","author":[{"family":"A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012059","type":"entry-dictionary","title":"Lentigo maligna melanoma"},{"container-title":"HP:0012060","author":[{"family":"A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012060","type":"entry-dictionary","title":"Acral lentiginous melanoma"},{"container-title":"HP:0012061","author":[{"family":"increased urinary sialyloligosaccharides"},{"family":"Excretion of oligosaccharides conjugated to sialic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012061","type":"entry-dictionary","title":"Urinary excretion of sialylated oligosaccharides"},{"container-title":"HP:0012062","author":[{"family":"bone cysts"},{"family":"A fluid filled cavity that develops with a bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012062","type":"entry-dictionary","title":"Bone cyst"},{"container-title":"HP:0012063","author":[{"family":"Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012063","type":"entry-dictionary","title":"Aneurysmal bone cyst"},{"container-title":"HP:0012064","author":[{"family":"A benign fluid filled simple cyst of bone filled with serous fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012064","type":"entry-dictionary","title":"Unicameral bone cyst"},{"container-title":"HP:0012065","author":[{"family":"multiple bony cystic lesions"},{"family":"Presence of multiple cystic changes in multiple ares or multiple bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012065","type":"entry-dictionary","title":"Multiple bony cystic lesions"},{"container-title":"HP:0012066","author":[{"family":"Increased concentration of disaccharide in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012066","type":"entry-dictionary","title":"Increased urinary disaccharide excretion"},{"container-title":"HP:0012067","author":[{"family":"high urine glycopeptide levels"},{"family":"Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012067","type":"entry-dictionary","title":"Glycopeptiduria"},{"container-title":"HP:0012068","author":[{"family":"high urine aspartylglucosamine levels"},{"family":"Excretion of excess amounts of aspartylglucosamine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012068","type":"entry-dictionary","title":"Aspartylglucosaminuria"},{"container-title":"HP:0012069","author":[{"family":"An increased concentration of keratan sulfate in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012069","type":"entry-dictionary","title":"Keratan sulfate excretion in urine"},{"container-title":"HP:0012070","author":[{"family":"An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012070","type":"entry-dictionary","title":"Chondroitin sulfate excretion in urine"},{"container-title":"HP:0012071","author":[{"family":"abnormal acetylcarnitine profile"},{"family":"An abnormality of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012071","type":"entry-dictionary","title":"Abnormality of acetylcarnitine metabolism"},{"container-title":"HP:0012072","author":[{"family":"Excretion of urine with an acid pH."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012072","type":"entry-dictionary","title":"Aciduria"},{"container-title":"HP:0012073","author":[{"family":"Ab abnormal distribution of N-acylglycines (CHEBI:16180) in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012073","type":"entry-dictionary","title":"Abnormal urinary acylglycine profile"},{"container-title":"HP:0012074","author":[{"family":"adie pupil"},{"family":"adie's tonic pupil"},{"family":"An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012074","type":"entry-dictionary","title":"Tonic pupil"},{"container-title":"HP:0012075","author":[{"family":"An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012075","type":"entry-dictionary","title":"Personality disorder"},{"container-title":"HP:0012076","author":[{"family":"A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012076","type":"entry-dictionary","title":"Borderline personality disorder"},{"container-title":"HP:0012077","author":[{"family":"A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012077","type":"entry-dictionary","title":"Histrionic personality disorder"},{"container-title":"HP:0012078","author":[{"family":"Blockade of impulses at a focal site along the course of a motor axon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012078","type":"entry-dictionary","title":"Motor conduction 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layer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012082","type":"entry-dictionary","title":"Cerebellar Purkinje layer atrophy"},{"container-title":"HP:0012083","author":[{"family":"Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012083","type":"entry-dictionary","title":"Ubiquitin-positive cerebral inclusion bodies"},{"container-title":"HP:0012084","author":[{"family":"Any abnormality of the size of the skeletal muscle cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012084","type":"entry-dictionary","title":"Abnormality of skeletal muscle fiber size"},{"container-title":"HP:0012085","author":[{"family":"high urine neutrophil count"},{"family":"Presence of an increased number of neutrophils in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012085","type":"entry-dictionary","title":"Pyuria"},{"container-title":"HP:0012086","author":[{"family":"abnormal urinary colour"},{"family":"abnormal urine color"},{"family":"abnormal urinary color"},{"family":"An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012086","type":"entry-dictionary","title":"Abnormal urinary color"},{"container-title":"HP:0012087","author":[{"family":"An anomaly in the surface contour of mitochondria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012087","type":"entry-dictionary","title":"Abnormal mitochondrial shape"},{"container-title":"HP:0012088","author":[{"family":"abnormal urinary odor"},{"family":"abnormal urinary odour"},{"family":"abnormal urine smell"},{"family":"A deviation from the normal odor of the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012088","type":"entry-dictionary","title":"Abnormal urinary odor"},{"container-title":"HP:0012089","author":[{"family":"inflammation of artery"},{"family":"Arterial inflammation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012089","type":"entry-dictionary","title":"Arteritis"},{"container-title":"HP:0012090","author":[{"family":"abnormally shaped pancreas"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012090","type":"entry-dictionary","title":"Abnormality of pancreas morphology"},{"container-title":"HP:0012091","author":[{"family":"An anomaly of the function of the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012091","type":"entry-dictionary","title":"Abnormality of pancreas physiology"},{"container-title":"HP:0012092","author":[{"family":"abnormal exocrine pancreatic function"},{"family":"A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012092","type":"entry-dictionary","title":"Abnormality of exocrine pancreas physiology"},{"container-title":"HP:0012093","author":[{"family":"A function abnormality of the endocrine pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012093","type":"entry-dictionary","title":"Abnormality of endocrine pancreas physiology"},{"container-title":"HP:0012094","author":[{"family":"abnormal pancreas size"},{"family":"A deviation from the normal size of the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012094","type":"entry-dictionary","title":"Abnormal pancreas size"},{"container-title":"HP:0012095","author":[{"family":"multiple joint dislocations"},{"family":"Dislocation of many joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012095","type":"entry-dictionary","title":"Multiple joint dislocation"},{"container-title":"HP:0012096","author":[{"family":"A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012096","type":"entry-dictionary","title":"Intracranial epidermoid cyst"},{"container-title":"HP:0012097","author":[{"family":"A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012097","type":"entry-dictionary","title":"Intracranial dermoid cyst"},{"container-title":"HP:0012098","author":[{"family":"edema of dorsum of feet"},{"family":"An abnormal accumulation of fluid beneath the skin on the back of the feet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012098","type":"entry-dictionary","title":"Edema of the dorsum of feet"},{"container-title":"HP:0012099","author":[{"family":"catecholamine levels abnormal"},{"family":"An abnormal catecholamine concentration in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012099","type":"entry-dictionary","title":"Abnormality of circulating catecholamine level"},{"container-title":"HP:0012100","author":[{"family":"abnormal blood creatinine level"},{"family":"creatinine levels abnormal"},{"family":"An abnormal concentration of creatinine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012100","type":"entry-dictionary","title":"Abnormal circulating creatinine level"},{"container-title":"HP:0012101","author":[{"family":"decreased serum creatinine"},{"family":"low blood creatinine level"},{"family":"reduced creatinine levels"},{"family":"An abnormally reduced amount of creatinine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012101","type":"entry-dictionary","title":"Decreased serum creatinine"},{"container-title":"HP:0012102","author":[{"family":"A deviation from the normal number of mitochondria per cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012102","type":"entry-dictionary","title":"Abnormal mitochondrial number"},{"container-title":"HP:0012103","author":[{"family":"mitochondrial abnormalities"},{"family":"An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012103","type":"entry-dictionary","title":"Abnormality of the mitochondrion"},{"container-title":"HP:0012104","author":[{"family":"Atrophy of the parietal cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012104","type":"entry-dictionary","title":"Parietal cortical atrophy"},{"container-title":"HP:0012105","author":[{"family":"Atrophy of the occipital cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012105","type":"entry-dictionary","title":"Occipital cortical atrophy"},{"container-title":"HP:0012106","author":[{"family":"Disproportionate shortening of the proximal segment of the leg (i.e. the femur)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012106","type":"entry-dictionary","title":"Rhizomelic leg shortening"},{"container-title":"HP:0012107","author":[{"family":"wide calf bone"},{"family":"wide fibula"},{"family":"thick fibulae"},{"family":"Increased width of the cross sectional diameter of the fibula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012107","type":"entry-dictionary","title":"Increased fibular diameter"},{"container-title":"HP:0012108","author":[{"family":"primary open angle glaucoma"},{"family":"A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012108","type":"entry-dictionary","title":"Open angle glaucoma"},{"container-title":"HP:0012109","author":[{"family":"primary angle closure glaucoma"},{"family":"A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012109","type":"entry-dictionary","title":"Angle closure glaucoma"},{"container-title":"HP:0012110","author":[{"family":"pontine hypoplasia"},{"family":"Underdevelopment of the pons."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012110","type":"entry-dictionary","title":"Hypoplasia of the pons"},{"container-title":"HP:0012111","author":[{"family":"An abnormality of the concentration of a glucocorticoid in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012111","type":"entry-dictionary","title":"Abnormality of circulating glucocorticoid level"},{"container-title":"HP:0012112","author":[{"family":"An abnormality of the concentration of corticosterone in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012112","type":"entry-dictionary","title":"Abnormality of circulating corticosterone level"},{"container-title":"HP:0012113","author":[{"family":"creatine metabolism abnormal"},{"family":"abnormality of creatine metabolism"},{"family":"An anomaly of the concentration or homeostasis of creatine. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012113","type":"entry-dictionary","title":"Abnormality of creatine metabolism"},{"container-title":"HP:0012114","author":[{"family":"A carcinoma of the endometrium, the mucous lining of the uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012114","type":"entry-dictionary","title":"Endometrial carcinoma"},{"container-title":"HP:0012115","author":[{"family":"liver inflammation"},{"family":"Inflammation of the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012115","type":"entry-dictionary","title":"Hepatitis"},{"container-title":"HP:0012116","author":[{"family":"abnormal albumin level"},{"family":"Deviation from normal concentration of albumin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012116","type":"entry-dictionary","title":"Abnormal albumin level"},{"container-title":"HP:0012117","author":[{"family":"high blood albumin levels"},{"family":"hyperalbuminaemia"},{"family":"high albumin"},{"family":"Elevation in the concentration of albumin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012117","type":"entry-dictionary","title":"Hyperalbuminemia"},{"container-title":"HP:0012118","author":[{"family":"cancer of the larynx"},{"family":"laryngeal cancer"},{"family":"A carcinoma of the larynx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012118","type":"entry-dictionary","title":"Laryngeal carcinoma"},{"container-title":"HP:0012119","author":[{"family":"Abnormally increased levels of Methemoglobinemia in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012119","type":"entry-dictionary","title":"Methemoglobinemia"},{"container-title":"HP:0012120","author":[{"family":"high blood methylmalonic acid levels"},{"family":"methymalonicaciduria"},{"family":"Increased concentration of methylmalonic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012120","type":"entry-dictionary","title":"Methylmalonic aciduria"},{"container-title":"HP:0012121","author":[{"family":"Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012121","type":"entry-dictionary","title":"Panuveitis"},{"container-title":"HP:0012122","author":[{"family":"Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012122","type":"entry-dictionary","title":"Anterior uveitis"},{"container-title":"HP:0012123","author":[{"family":"choroiditis"},{"family":"Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012123","type":"entry-dictionary","title":"Posterior uveitis"},{"container-title":"HP:0012124","author":[{"family":"Inflammation of the uveal tract in which the primary site of inflammation is the vitreous."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012124","type":"entry-dictionary","title":"Intermediate uveitis"},{"container-title":"HP:0012125","author":[{"family":"prostatic cancer"},{"family":"A cancer of the prostate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012125","type":"entry-dictionary","title":"Prostate cancer"},{"container-title":"HP:0012126","author":[{"family":"gastric cancer"},{"family":"A cancer arising in any part of the stomach."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012126","type":"entry-dictionary","title":"Stomach cancer"},{"container-title":"HP:0012127","author":[{"family":"high urine uracil levels"},{"family":"Increased concentration of uracil in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012127","type":"entry-dictionary","title":"Uraciluria"},{"container-title":"HP:0012128","author":[{"family":"Death of cells in the basal ganglia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012128","type":"entry-dictionary","title":"Basal ganglia necrosis"},{"container-title":"HP:0012129","author":[{"family":"Abnormality of bone marrow stromal cells"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012129","type":"entry-dictionary","title":"Abnormality of bone marrow stromal cells"},{"container-title":"HP:0012130","author":[{"family":"abnormality of cells of the erythroid lineage"},{"family":"An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012130","type":"entry-dictionary","title":"Abnormal erythroid lineage cell morphology"},{"container-title":"HP:0012131","author":[{"family":"A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012131","type":"entry-dictionary","title":"Abnormal number of erythroid precursors"},{"container-title":"HP:0012132","author":[{"family":"bone marrow biopsy shows erythroid hyperplasia"},{"family":"bone marrow smear shows erythroid hyperplasia"},{"family":"Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012132","type":"entry-dictionary","title":"Erythroid hyperplasia"},{"container-title":"HP:0012133","author":[{"family":"erythroblastopenia"},{"family":"erythroid hypoplasia in the bone marrow"},{"family":"Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012133","type":"entry-dictionary","title":"Erythroid hypoplasia"},{"container-title":"HP:0012134","author":[{"family":"Dysplastic erythropoesis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012134","type":"entry-dictionary","title":"Dysplastic erythropoesis"},{"container-title":"HP:0012135","author":[{"family":"abnormality of cells of the granulocytic lineage"},{"family":"An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012135","type":"entry-dictionary","title":"Abnormal granulocytopoietic cell morphology"},{"container-title":"HP:0012136","author":[{"family":"Dysplastic granulopoesis"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012136","type":"entry-dictionary","title":"Dysplastic granulopoesis"},{"container-title":"HP:0012137","author":[{"family":"Abnormal number of granulocyte precursors"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012137","type":"entry-dictionary","title":"Abnormal number of granulocyte precursors"},{"container-title":"HP:0012138","author":[{"family":"Granulocytic hyperplasia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012138","type":"entry-dictionary","title":"Granulocytic hyperplasia"},{"container-title":"HP:0012139","author":[{"family":"Decreased number of granulocyte precursors in the bone marrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012139","type":"entry-dictionary","title":"Granulocytic hypoplasia"},{"container-title":"HP:0012142","author":[{"family":"squamous cell carcinoma of the pancreas"},{"family":"A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012142","type":"entry-dictionary","title":"Pancreatic squamous cell carcinoma"},{"container-title":"HP:0012143","author":[{"family":"abnormality of cells of the megakaryocyte lineage"},{"family":"Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012143","type":"entry-dictionary","title":"Abnormal megakaryocyte morphology"},{"container-title":"HP:0012144","author":[{"family":"Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012144","type":"entry-dictionary","title":"Abnormality monocyte morphology"},{"container-title":"HP:0012145","author":[{"family":"Abnormality of multiple cell lineages in the bone marrow"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012145","type":"entry-dictionary","title":"Abnormality of multiple cell lineages in the bone marrow"},{"container-title":"HP:0012146","author":[{"family":"Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012146","type":"entry-dictionary","title":"Abnormality of von Willebrand factor"},{"container-title":"HP:0012147","author":[{"family":"decreased von willebrand factor"},{"family":"Decreased quantity of von Willebrand factor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012147","type":"entry-dictionary","title":"Reduced quantity of Von Willebrand factor"},{"container-title":"HP:0012148","author":[{"family":"Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012148","type":"entry-dictionary","title":"Multiple lineage myelodysplasia"},{"container-title":"HP:0012149","author":[{"family":"Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012149","type":"entry-dictionary","title":"Bilineage myelodysplasia"},{"container-title":"HP:0012150","author":[{"family":"Abnormality\/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012150","type":"entry-dictionary","title":"Single lineage myelodysplasia"},{"container-title":"HP:0012151","author":[{"family":"The presence of blood in the pleural space."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012151","type":"entry-dictionary","title":"Hemothorax"},{"container-title":"HP:0012152","author":[{"family":"retinoschisis involving the fovea"},{"family":"Splitting of the retinal layers in the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012152","type":"entry-dictionary","title":"Foveoschisis"},{"container-title":"HP:0012153","author":[{"family":"low blood triglyceride levels"},{"family":"decreased plasma tg levels"},{"family":"decreased circulating tg levels"},{"family":"An decrease in the level of triglycerides in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012153","type":"entry-dictionary","title":"Hypotriglyceridemia"},{"container-title":"HP:0012154","author":[{"family":"Inability to experience pleasure activities usually found enjoyable."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012154","type":"entry-dictionary","title":"Anhedonia"},{"container-title":"HP:0012155","author":[{"family":"corneal hypesthesia"},{"family":"decreased corneal sensitivity"},{"family":"reduced corneal sensation"},{"family":"corneal hypaesthesia"},{"family":"Reduced ability of the cornea to respond to stimulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012155","type":"entry-dictionary","title":"Decreased corneal sensation"},{"container-title":"HP:0012156","author":[{"family":"Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012156","type":"entry-dictionary","title":"Hemophagocytosis"},{"container-title":"HP:0012157","author":[{"family":"Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012157","type":"entry-dictionary","title":"Subcortical cerebral atrophy"},{"container-title":"HP:0012158","author":[{"family":"A separation (dissection) of the layers of the carotid artery wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012158","type":"entry-dictionary","title":"Carotid artery dissection"},{"container-title":"HP:0012159","author":[{"family":"A separation (dissection) of the layers of the internal carotid artery wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012159","type":"entry-dictionary","title":"Internal carotid artery dissection"},{"container-title":"HP:0012160","author":[{"family":"A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012160","type":"entry-dictionary","title":"Intracranial internal carotid artery dissection"},{"container-title":"HP:0012161","author":[{"family":"A separation (dissection) of the layers of the external carotid artery wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012161","type":"entry-dictionary","title":"External carotid artery dissection"},{"container-title":"HP:0012162","author":[{"family":"A separation (dissection) of the layers of the common carotid artery wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012162","type":"entry-dictionary","title":"Common carotid artery dissection"},{"container-title":"HP:0012163","author":[{"family":"carotid artery aneurysm"},{"family":"A dilatation (balooning or bulging out of the vessel wall) of a carotid artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012163","type":"entry-dictionary","title":"Carotid artery dilatation"},{"container-title":"HP:0012164","author":[{"family":"A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012164","type":"entry-dictionary","title":"Asterixis"},{"container-title":"HP:0012165","author":[{"family":"A developmental defect resulting in the presence of fewer than the normal number of digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012165","type":"entry-dictionary","title":"Oligodactyly"},{"container-title":"HP:0012166","author":[{"family":"compulsive skin picking"},{"family":"dermatillomania"},{"family":"Repetitive and compulsive picking of skin which results in tissue damage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012166","type":"entry-dictionary","title":"Skin-picking"},{"container-title":"HP:0012167","author":[{"family":"trichotillomania"},{"family":"A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012167","type":"entry-dictionary","title":"Hair-pulling"},{"container-title":"HP:0012168","author":[{"family":"head-banging"},{"family":"Habitual striking of one's own head against a surface such as a mattress or wall of a crib."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012168","type":"entry-dictionary","title":"Head-banging"},{"container-title":"HP:0012169","author":[{"family":"Habitual biting of one's own body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012169","type":"entry-dictionary","title":"Self-biting"},{"container-title":"HP:0012170","author":[{"family":"nail-biting"},{"family":"onychophagia"},{"family":"onychophagy"},{"family":"Habitual biting of one's own fingernails."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012170","type":"entry-dictionary","title":"Nail-biting"},{"container-title":"HP:0012171","author":[{"family":"Habitual clasping and squeeezing of the hands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012171","type":"entry-dictionary","title":"Stereotypical hand wringing"},{"container-title":"HP:0012172","author":[{"family":"Habitual repetitive movement of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012172","type":"entry-dictionary","title":"Stereotypical body rocking"},{"container-title":"HP:0012173","author":[{"family":"postural tachycardia"},{"family":"An increase in heart rate with standing of 30 beats per minute or more."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012173","type":"entry-dictionary","title":"Orthostatic tachycardia"},{"container-title":"HP:0012174","author":[{"family":"glioblastoma"},{"family":"A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012174","type":"entry-dictionary","title":"Glioblastoma multiforme"},{"container-title":"HP:0012175","author":[{"family":"activated protein c resistance"},{"family":"Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012175","type":"entry-dictionary","title":"Resistance to activated protein C"},{"container-title":"HP:0012176","author":[{"family":"abnormality of natural killer cells"},{"family":"abnormal nk cells"},{"family":"An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012176","type":"entry-dictionary","title":"Abnormal natural killer cell morphology"},{"container-title":"HP:0012177","author":[{"family":"A functional anomaly of the natural killer cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012177","type":"entry-dictionary","title":"Abnormal natural killer cell physiology"},{"container-title":"HP:0012178","author":[{"family":"Reduced ability of the natural killer cell to function in the adaptive immune response."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012178","type":"entry-dictionary","title":"Reduced natural killer cell activity"},{"container-title":"HP:0012179","author":[{"family":"abnormal facial muscle tone"},{"family":"abnormal craniofacial muscle tone"},{"family":"distorted craniofacial posture"},{"family":"abnormal craniofacial posture"},{"family":"facial dystonia"},{"family":"A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012179","type":"entry-dictionary","title":"Craniofacial dystonia"},{"container-title":"HP:0012180","author":[{"family":"arterial cystic medial necrosis"},{"family":"A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012180","type":"entry-dictionary","title":"Cystic medial necrosis"},{"container-title":"HP:0012181","author":[{"family":"Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012181","type":"entry-dictionary","title":"Entrapment neuropathy"},{"container-title":"HP:0012182","author":[{"family":"A squamous cell carcinoma that originates in the oropharnyx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012182","type":"entry-dictionary","title":"Oropharyngeal squamous cell carcinoma"},{"container-title":"HP:0012183","author":[{"family":"Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012183","type":"entry-dictionary","title":"Hyperplastic colonic polyposis"},{"container-title":"HP:0012184","author":[{"family":"hyperalphalipoproteinemia"},{"family":"high blood hdl level"},{"family":"An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012184","type":"entry-dictionary","title":"Increased circulating high-density lipoprotein levels"},{"container-title":"HP:0012185","author":[{"family":"carpal tunnel syndrome"},{"family":"Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012185","type":"entry-dictionary","title":"Constrictive median neuropathy"},{"container-title":"HP:0012186","author":[{"family":"An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012186","type":"entry-dictionary","title":"Entrapment neuropathy of the ulnar nerve at elbow"},{"container-title":"HP:0012187","author":[{"family":"An increased concentration of protoporphyrins in erythrocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012187","type":"entry-dictionary","title":"Increased erythrocyte protoporphyrin concentration"},{"container-title":"HP:0012188","author":[{"family":"Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012188","type":"entry-dictionary","title":"Hyperemesis gravidarum"},{"container-title":"HP:0012189","author":[{"family":"hodgkin disease"},{"family":"hodgkin's lymphoma"},{"family":"A typer of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012189","type":"entry-dictionary","title":"Hodgkin lymphoma"},{"container-title":"HP:0012190","author":[{"family":"t cell lymphoma"},{"family":"A type of lymphoma that originates in T-cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012190","type":"entry-dictionary","title":"T-cell lymphoma"},{"container-title":"HP:0012191","author":[{"family":"b cell lymphoma"},{"family":"A type of lymphoma that originates in B-cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012191","type":"entry-dictionary","title":"B-cell lymphoma"},{"container-title":"HP:0012192","author":[{"family":"A type of T-cell lymphoma that exhibits malignant infiltration of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012192","type":"entry-dictionary","title":"Cutaneous T-cell lymphoma"},{"container-title":"HP:0012193","author":[{"family":"A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei. These so-called hallmark cells have lobulated and indented nuclei."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012193","type":"entry-dictionary","title":"Anaplastic large-cell lymphoma"},{"container-title":"HP:0012194","author":[{"family":"Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012194","type":"entry-dictionary","title":"Episodic hemiplegia"},{"container-title":"HP:0012195","author":[{"family":"Uneven rhythm of breathing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012195","type":"entry-dictionary","title":"Irregular respiration"},{"container-title":"HP:0012196","author":[{"family":"periodic respiration"},{"family":"An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012196","type":"entry-dictionary","title":"Cheyne-Stokes respiration"},{"container-title":"HP:0012197","author":[{"family":"A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012197","type":"entry-dictionary","title":"Insulinoma"},{"container-title":"HP:0012198","author":[{"family":"The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012198","type":"entry-dictionary","title":"Juvenile colonic polyposis"},{"container-title":"HP:0012199","author":[{"family":"A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012199","type":"entry-dictionary","title":"Cluster headache"},{"container-title":"HP:0012200","author":[{"family":"An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012200","type":"entry-dictionary","title":"Abnormality of prothrombin"},{"container-title":"HP:0012201","author":[{"family":"reduced factor ii activity"},{"family":"low factor ii activity"},{"family":"Decreased activity of coagulation factor II, which is also known as prothrombin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012201","type":"entry-dictionary","title":"Reduced prothrombin activity"},{"container-title":"HP:0012202","author":[{"family":"An increase in the concentration of bile acid in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012202","type":"entry-dictionary","title":"Increased serum bile acid concentration"},{"container-title":"HP:0012203","author":[{"family":"A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012203","type":"entry-dictionary","title":"Onychomycosis"},{"container-title":"HP:0012204","author":[{"family":"Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012204","type":"entry-dictionary","title":"Recurrent vulvovaginal candidiasis"},{"container-title":"HP:0012205","author":[{"family":"Any structural anomaly of the acrosome resulting in a round sperm head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012205","type":"entry-dictionary","title":"Globozoospermia"},{"container-title":"HP:0012206","author":[{"family":"abnormal sperm motility"},{"family":"An anomaly of the mobility of ejaculated sperm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012206","type":"entry-dictionary","title":"Abnormal sperm motility"},{"container-title":"HP:0012207","author":[{"family":"reduced sperm motility"},{"family":"asthenospermia"},{"family":"An abnormal reduction in the mobility of ejaculated sperm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012207","type":"entry-dictionary","title":"Reduced sperm motility"},{"container-title":"HP:0012208","author":[{"family":"A lack of mobility of ejaculated sperm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012208","type":"entry-dictionary","title":"Nonmotile sperm"},{"container-title":"HP:0012209","author":[{"family":"Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012209","type":"entry-dictionary","title":"Juvenile myelomonocytic leukemia"},{"container-title":"HP:0012210","author":[{"family":"kidney malformation"},{"family":"structural anomalies of the renal tract"},{"family":"abnormally shaped kidney"},{"family":"abnormal kidney morphology"},{"family":"structural kidney abnormalities"},{"family":"structural renal anomalies"},{"family":"kidney structure issue"},{"family":"renal malformation"},{"family":"Any structural anomaly of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012210","type":"entry-dictionary","title":"Abnormal renal morphology"},{"container-title":"HP:0012211","author":[{"family":"abnormal kidney function"},{"family":"abnormality of renal physiology"},{"family":"abnormal renal function"},{"family":"renal functional abnormality"},{"family":"kidney function issue"},{"family":"An abnormal functionality of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012211","type":"entry-dictionary","title":"Abnormal renal physiology"},{"container-title":"HP:0012212","author":[{"family":"An anomaly in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012212","type":"entry-dictionary","title":"Abnormal glomerular filtration rate"},{"container-title":"HP:0012213","author":[{"family":"impaired renal creatinine clearance"},{"family":"reduced creatinine clearance"},{"family":"An abnormal reduction in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012213","type":"entry-dictionary","title":"Decreased glomerular filtration rate"},{"container-title":"HP:0012214","author":[{"family":"An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012214","type":"entry-dictionary","title":"Increased glomerular filtration rate"},{"container-title":"HP:0012215","author":[{"family":"The deposition of calcium phosphate microliths within the seminiferous tubules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012215","type":"entry-dictionary","title":"Testicular microlithiasis"},{"container-title":"HP:0012216","author":[{"family":"suprascapular nerve entrapment"},{"family":"An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012216","type":"entry-dictionary","title":"Entrapment neuropathy of suprascapular nerve"},{"container-title":"HP:0012217","author":[{"family":"Increased concentration of porphobilinogen in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012217","type":"entry-dictionary","title":"Increased urinary porphobilinogen"},{"container-title":"HP:0012218","author":[{"family":"A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012218","type":"entry-dictionary","title":"Alveolar soft part sarcoma"},{"container-title":"HP:0012219","author":[{"family":"An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012219","type":"entry-dictionary","title":"Erythema nodosum"},{"container-title":"HP:0012220","author":[{"family":"The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012220","type":"entry-dictionary","title":"Non-caseating epithelioid cell granulomatosis"},{"container-title":"HP:0012221","author":[{"family":"pretibial epidermolysis bullosa"},{"family":"A type of blistering that affects the skin of the tibial region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012221","type":"entry-dictionary","title":"Pretibial blistering"},{"container-title":"HP:0012222","author":[{"family":"The presence of multiple hemangiomas in the arachnoid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012222","type":"entry-dictionary","title":"Arachnoid hemangiomatosis"},{"container-title":"HP:0012223","author":[{"family":"splenic rupture"},{"family":"ruptured spleen"},{"family":"A breach of the capsule of the spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012223","type":"entry-dictionary","title":"Splenic rupture"},{"container-title":"HP:0012224","author":[{"family":"Persistence of immune complexes in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012224","type":"entry-dictionary","title":"Circulating immune complexes"},{"container-title":"HP:0012225","author":[{"family":"fewer deciduous teeth than normal"},{"family":"missing some milk teeth"},{"family":"missing some primary teeth"},{"family":"missing some baby teeth"},{"family":"partial anodontia of primary teeth"},{"family":"decreased number of milk teeth"},{"family":"fewer baby teeth than normal"},{"family":"fewer primary teeth than normal"},{"family":"decreased number of baby teeth"},{"family":"decreased number of primary teeth"},{"family":"failure of development of some deciduous teeth"},{"family":"failure of development of some primary teeth"},{"family":"partial anodontia of deciduous teeth"},{"family":"decreased number of deciduous teeth"},{"family":"Reduced number of primary teeth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012225","type":"entry-dictionary","title":"Oligodontia of primary teeth"},{"container-title":"HP:0012226","author":[{"family":"The presence of a teratoma in the ovary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012226","type":"entry-dictionary","title":"Ovarian teratoma"},{"container-title":"HP:0012227","author":[{"family":"Narrowing of the urethra associated with inflammation or scar tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012227","type":"entry-dictionary","title":"Urethral stricture"},{"container-title":"HP:0012228","author":[{"family":"tension-type headache"},{"family":"A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing\/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012228","type":"entry-dictionary","title":"Tension-type headache"},{"container-title":"HP:0012229","author":[{"family":"cerebrospinal fluid pleocytosis"},{"family":"An increased white blood cell count in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012229","type":"entry-dictionary","title":"CSF pleocytosis"},{"container-title":"HP:0012230","author":[{"family":"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012230","type":"entry-dictionary","title":"Rhegmatogenous retinal detachment"},{"container-title":"HP:0012231","author":[{"family":"serous retinal detachment"},{"family":"A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012231","type":"entry-dictionary","title":"Exudative retinal detachment"},{"container-title":"HP:0012232","author":[{"family":"Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012232","type":"entry-dictionary","title":"Shortened QT interval"},{"container-title":"HP:0012233","author":[{"family":"intramuscular haematoma"},{"family":"intramuscular hemorrhage"},{"family":"intramuscular hematomas"},{"family":"Blood clot formed within muscle tissue following leakage of blood into the tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012233","type":"entry-dictionary","title":"Intramuscular hematoma"},{"container-title":"HP:0045001","author":[{"family":"Abnormal ossification of the trapezium"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045001","type":"entry-dictionary","title":"Abnormal ossification of the trapezium"},{"container-title":"HP:0012234","author":[{"family":"Marked decrease in the number of granulocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012234","type":"entry-dictionary","title":"Agranulocytosis"},{"container-title":"HP:0045002","author":[{"family":"Absent ossification of the trapezium"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045002","type":"entry-dictionary","title":"Absent ossification of the trapezium"},{"container-title":"HP:0012235","author":[{"family":"A type of agranulocytosis related to ingestion of a specific medication."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012235","type":"entry-dictionary","title":"Drug-induced agranulocytosis"},{"container-title":"HP:0045003","author":[{"family":"Abnormal ossification of the scaphoid"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045003","type":"entry-dictionary","title":"Abnormal ossification of the scaphoid"},{"container-title":"HP:0012236","author":[{"family":"elevated sweat chloride"},{"family":"An increased concentration of chloride in the sweat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012236","type":"entry-dictionary","title":"Elevated sweat chloride"},{"container-title":"HP:0045004","author":[{"family":"Abnormal ossification of the trapezoid bone"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045004","type":"entry-dictionary","title":"Abnormal ossification of the trapezoid bone"},{"container-title":"HP:0012237","author":[{"family":"high urine urocanic acid levels"},{"family":"An increased concentration of urocanic acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012237","type":"entry-dictionary","title":"Urocanic aciduria"},{"container-title":"HP:0045005","author":[{"family":"abnormality of neural tube closure"},{"family":"A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045005","type":"entry-dictionary","title":"Neural tube defect"},{"container-title":"HP:0012238","author":[{"family":"hyperchylomicronemia"},{"family":"increased chylomicrons"},{"family":"Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012238","type":"entry-dictionary","title":"Increased circulating chylomicron levels"},{"container-title":"HP:0045006","author":[{"family":"absent lymphatic vessels"},{"family":"Aplasia (absence) of the lymphatic vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045006","type":"entry-dictionary","title":"Aplasia of lymphatic vessels"},{"container-title":"HP:0012239","author":[{"family":"Absence of transferrin, a protein that transports iron, in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012239","type":"entry-dictionary","title":"Atransferrinemia"},{"container-title":"HP:0045007","author":[{"family":"Abnormality of the substantia nigra"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045007","type":"entry-dictionary","title":"Abnormality of the substantia nigra"},{"container-title":"HP:0012240","author":[{"family":"increased muscle lipid droplets"},{"family":"An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012240","type":"entry-dictionary","title":"Increased intramyocellular lipid droplets"},{"container-title":"HP:0045008","author":[{"family":"Abnormal shape of the radius"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045008","type":"entry-dictionary","title":"Abnormal shape of the radius"},{"container-title":"HP:0012241","author":[{"family":"Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012241","type":"entry-dictionary","title":"Levator palpebrae superioris atrophy"},{"container-title":"HP:0045009","author":[{"family":"Abnormal morphology of the radius"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045009","type":"entry-dictionary","title":"Abnormal morphology of the radius"},{"container-title":"HP:0012242","author":[{"family":"rectus superior atrophy"},{"family":"Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012242","type":"entry-dictionary","title":"Superior rectus atrophy"},{"container-title":"HP:0045010","author":[{"family":"Abnormality of peripheral nerves"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045010","type":"entry-dictionary","title":"Abnormality of peripheral nerves"},{"container-title":"HP:0012243","author":[{"family":"abnormal genital system morphology"},{"family":"A structural or developmental anomaly of any of the tissues involved in the genital system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012243","type":"entry-dictionary","title":"Abnormal reproductive system morphology"},{"container-title":"HP:0045011","author":[{"family":"Decreased urine bicarbonate concentration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045011","type":"entry-dictionary","title":"Decreased urine bicarbonate concentration"},{"container-title":"HP:0012244","author":[{"family":"Anomaly of primary or secondary sexual development or characteristics."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012244","type":"entry-dictionary","title":"Abnormal sex determination"},{"container-title":"HP:0045012","author":[{"family":"Decreased urinary catecholamine concentration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045012","type":"entry-dictionary","title":"Decreased urinary catecholamine concentration"},{"container-title":"HP:0012245","author":[{"family":"Development of the reproductive system is inconsistent with the chromosomal sex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012245","type":"entry-dictionary","title":"Sex reversal"},{"container-title":"HP:0045013","author":[{"family":"Decreased urinary glucose concentration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045013","type":"entry-dictionary","title":"Decreased urinary glucose concentration"},{"container-title":"HP:0012246","author":[{"family":"oculomotor neuropathy"},{"family":"Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012246","type":"entry-dictionary","title":"Oculomotor nerve palsy"},{"container-title":"HP:0045014","author":[{"family":"Hypolipidemia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045014","type":"entry-dictionary","title":"Hypolipidemia"},{"container-title":"HP:0012247","author":[{"family":"Anosmia for one particular odor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012247","type":"entry-dictionary","title":"Specific anosmia"},{"container-title":"HP:0012248","author":[{"family":"lengthened pr interval on ekg"},{"family":"electrocardiographic long pr interval"},{"family":"Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012248","type":"entry-dictionary","title":"Prolonged PR interval"},{"container-title":"HP:0045016","author":[{"family":"increased serum long-chain fatty acids"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045016","type":"entry-dictionary","title":"Elevated serum long-chain fatty acids"},{"container-title":"HP:0012249","author":[{"family":"An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012249","type":"entry-dictionary","title":"Abnormal ST segment"},{"container-title":"HP:0045017","author":[{"family":"Defect or defects of the morphogenesis of the left heart identifiable at birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045017","type":"entry-dictionary","title":"Congenital malformation of the left heart"},{"container-title":"HP:0012250","author":[{"family":"An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012250","type":"entry-dictionary","title":"ST segment depression"},{"container-title":"HP:0045018","author":[{"family":"partial duplication of eyebrows"},{"family":"partial double eyebrow"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045018","type":"entry-dictionary","title":"Partial duplication of eyebrows"},{"container-title":"HP:0012251","author":[{"family":"An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012251","type":"entry-dictionary","title":"ST segment elevation"},{"container-title":"HP:0012252","author":[{"family":"A structural anomaly of the respiratory system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012252","type":"entry-dictionary","title":"Abnormal respiratory system morphology"},{"container-title":"HP:0012253","author":[{"family":"Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012253","type":"entry-dictionary","title":"Abnormal respiratory epithelium morphology"},{"container-title":"HP:0012254","author":[{"family":"ewing sarcoma"},{"family":"A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012254","type":"entry-dictionary","title":"Ewing's sarcoma"},{"container-title":"HP:0012255","author":[{"family":"An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012255","type":"entry-dictionary","title":"Dynein arm defect of respiratory motile cilia"},{"container-title":"HP:0012256","author":[{"family":"Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012256","type":"entry-dictionary","title":"Absent outer dynein arms"},{"container-title":"HP:0012257","author":[{"family":"Absence of the outer dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012257","type":"entry-dictionary","title":"Absent inner dynein arms"},{"container-title":"HP:0045025","author":[{"family":"decreased size of palpebral fissure"},{"family":"small opening between the eyelids"},{"family":"small palpebral fissures"},{"family":"narrow eyelid opening"},{"family":"narrow palpebral fissures"},{"family":"Reduction in the vertical distance between the upper and lower eyelids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045025","type":"entry-dictionary","title":"Narrow palpebral fissure"},{"container-title":"HP:0012258","author":[{"family":"Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012258","type":"entry-dictionary","title":"Abnormal axonemal organization of respiratory motile cilia"},{"container-title":"HP:0045026","author":[{"family":"Abnormality of the mediastinum"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045026","type":"entry-dictionary","title":"Abnormality of the mediastinum"},{"container-title":"HP:0012259","author":[{"family":"Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012259","type":"entry-dictionary","title":"Absent inner and outer dynein arms"},{"container-title":"HP:0045027","author":[{"family":"Abnormality of the thoracic cavity"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045027","type":"entry-dictionary","title":"Abnormality of the thoracic cavity"},{"container-title":"HP:0012260","author":[{"family":"A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012260","type":"entry-dictionary","title":"Abnormal central microtubular pair morphology of respiratory motile cilia"},{"container-title":"HP:0045028","author":[{"family":"lissencephaly type iii"},{"family":"type 3 lissencephaly"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045028","type":"entry-dictionary","title":"Type III lissencephaly"},{"container-title":"HP:0012261","author":[{"family":"Any functional anomaly of the respiratory motile cilia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012261","type":"entry-dictionary","title":"Abnormal respiratory motile cilium physiology"},{"container-title":"HP:0045029","author":[{"family":"Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045029","type":"entry-dictionary","title":"Eosinophilic fasciitis"},{"container-title":"HP:0012262","author":[{"family":"Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012262","type":"entry-dictionary","title":"Abnormal ciliary motility"},{"container-title":"HP:0012263","author":[{"family":"Immotile cilia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012263","type":"entry-dictionary","title":"Immotile cilia"},{"container-title":"HP:0012264","author":[{"family":"Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012264","type":"entry-dictionary","title":"Absent central microtubular pair morphology of respiratory motile cilia"},{"container-title":"HP:0012265","author":[{"family":"A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012265","type":"entry-dictionary","title":"Ciliary dyskinesia"},{"container-title":"HP:0012266","author":[{"family":"A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012266","type":"entry-dictionary","title":"T-wave alternans"},{"container-title":"HP:0045034","author":[{"family":"An increased amount of 3-aminoisobutyric acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045034","type":"entry-dictionary","title":"Elevated urinary aminoisobutyric acid"},{"container-title":"HP:0012267","author":[{"family":"Absence of the radial spokes of the axoneme of the respiratory cilium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012267","type":"entry-dictionary","title":"Absent respiratory ciliary axoneme radial spokes"},{"container-title":"HP:0045035","author":[{"family":"decreased urinary copper concentration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045035","type":"entry-dictionary","title":"Decreased urinary copper concentration"},{"container-title":"HP:0012268","author":[{"family":"A liposarcoma that contains myxomatous tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012268","type":"entry-dictionary","title":"Myxoid liposarcoma"},{"container-title":"HP:0045036","author":[{"family":"abnormal urinary copper concentration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045036","type":"entry-dictionary","title":"Abnormal urinary copper concentration"},{"container-title":"HP:0012269","author":[{"family":"Any anomaly in the amount of glycogen in muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012269","type":"entry-dictionary","title":"Abnormal muscle glycogen content"},{"container-title":"HP:0045037","author":[{"family":"abnormality of jaw muscles"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045037","type":"entry-dictionary","title":"Abnormality of jaw muscles"},{"container-title":"HP:0012270","author":[{"family":"A decreased amount of glycogen in muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012270","type":"entry-dictionary","title":"Decreased muscle glycogen content"},{"container-title":"HP:0045038","author":[{"family":"primary gastric lymphoma"},{"family":"Llymphoma that originates in the stomach itself."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045038","type":"entry-dictionary","title":"Gastric lymphoma"},{"container-title":"HP:0012271","author":[{"family":"Intermittent episodes of increased resistance to the passage of air in the upper airway."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012271","type":"entry-dictionary","title":"Episodic upper airway obstruction"},{"container-title":"HP:0045039","author":[{"family":"Osteolysis involving bones of the upper limbs"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045039","type":"entry-dictionary","title":"Osteolysis involving bones of the upper limbs"},{"container-title":"HP:0012272","author":[{"family":"ekg j waves"},{"family":"osborne waves"},{"family":"The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012272","type":"entry-dictionary","title":"J wave"},{"container-title":"HP:0045040","author":[{"family":"Abnormal lactate dehydrogenase activity"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045040","type":"entry-dictionary","title":"Abnormal lactate dehydrogenase activity"},{"container-title":"HP:0012273","author":[{"family":"An increase in the combined thickness of the intima and media of the carotid artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012273","type":"entry-dictionary","title":"Increased carotid artery intimal medial thickness"},{"container-title":"HP:0045041","author":[{"family":"Reduced lactate dehydrogenase B level"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045041","type":"entry-dictionary","title":"Reduced lactate dehydrogenase B level"},{"container-title":"HP:0012274","author":[{"family":"A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012274","type":"entry-dictionary","title":"Autosomal dominant inheritance with paternal imprinting"},{"container-title":"HP:0045042","author":[{"family":"decreased serum complement c4 level"},{"family":"A reduced level of the complement component C4 in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045042","type":"entry-dictionary","title":"Decreased serum complement C4"},{"container-title":"HP:0012275","author":[{"family":"A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012275","type":"entry-dictionary","title":"Autosomal dominant inheritance with maternal imprinting"},{"container-title":"HP:0045043","author":[{"family":"A reduced level of the complement component C4a in circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045043","type":"entry-dictionary","title":"Decreased serum complement C4a"},{"container-title":"HP:0012276","author":[{"family":"trigger finger"},{"family":"Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012276","type":"entry-dictionary","title":"Digital flexor tenosynovitis"},{"container-title":"HP:0045044","author":[{"family":"complement component 4b deficiency"},{"family":"c4b deficiency"},{"family":"A reduced level of the complement component C4b in circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045044","type":"entry-dictionary","title":"Decreased serum complement C4b"},{"container-title":"HP:0012277","author":[{"family":"low blood glycine levels"},{"family":"An abnormally reduced concentration of glycine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012277","type":"entry-dictionary","title":"Hypoglycinemia"},{"container-title":"HP:0045045","author":[{"family":"Elevated plasma acylcarnitine levels"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045045","type":"entry-dictionary","title":"Elevated plasma acylcarnitine levels"},{"container-title":"HP:0012278","author":[{"family":"An abnormality of a serine metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012278","type":"entry-dictionary","title":"Abnormality of serine metabolism"},{"container-title":"HP:0045046","author":[{"family":"decreased levels of acid labile subunit"},{"family":"acid-labile subunit deficiency"},{"family":"Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045046","type":"entry-dictionary","title":"Reduced insulin like growth factor binding protein acid labile subunit level"},{"container-title":"HP:0012279","author":[{"family":"low blood serine levels"},{"family":"Reduced concentration of serine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012279","type":"entry-dictionary","title":"Hyposerinemia"},{"container-title":"HP:0045047","author":[{"family":"Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045047","type":"entry-dictionary","title":"HbS hemoglobin"},{"container-title":"HP:0012280","author":[{"family":"A form of amyloidosis that affects the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012280","type":"entry-dictionary","title":"Hepatic amyloidosis"},{"container-title":"HP:0045048","author":[{"family":"An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045048","type":"entry-dictionary","title":"Increased HbA2 hemoglobin"},{"container-title":"HP:0012281","author":[{"family":"chyloperitoneum"},{"family":"Extravasation of chyle into the peritoneal cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012281","type":"entry-dictionary","title":"Chylous ascites"},{"container-title":"HP:0045049","author":[{"family":"abnormal diffusing capacity"},{"family":"abnormal tlco"},{"family":"abnormal transfer factor of the lung for carbon monoxide"},{"family":"An abnormal amount of oxygen passes into the blood from the lungs and\/or an abnormal amount of carbon dioxide passes from the blood into the lungs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045049","type":"entry-dictionary","title":"Abnormal DLCO"},{"container-title":"HP:0012282","author":[{"family":"An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012282","type":"entry-dictionary","title":"Morbilliform rash"},{"container-title":"HP:0045050","author":[{"family":"increased diffusing capacity"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045050","type":"entry-dictionary","title":"Increased DLCO"},{"container-title":"HP:0012283","author":[{"family":"small end part of outermost thighbone"},{"family":"Reduced size of the Distal epiphysis of femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012283","type":"entry-dictionary","title":"Small distal femoral epiphysis"},{"container-title":"HP:0045051","author":[{"family":"decreased diffusing capacity"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045051","type":"entry-dictionary","title":"Decreased DLCO"},{"container-title":"HP:0012284","author":[{"family":"small end part of innermost shinbone"},{"family":"small end part of innermost shankbone"},{"family":"Reduced size of the proximal epiphysis of the tibia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012284","type":"entry-dictionary","title":"Small proximal tibial epiphyses"},{"container-title":"HP:0045052","author":[{"family":"Any abnormality of the brachial nerve plexus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045052","type":"entry-dictionary","title":"Abnormality of the brachial nerve plexus"},{"container-title":"HP:0012285","author":[{"family":"An abnormal functionality of the hypothalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012285","type":"entry-dictionary","title":"Abnormal hypothalamus physiology"},{"container-title":"HP:0045053","author":[{"family":"Any abnormality of the lumbosacral nerve plexus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045053","type":"entry-dictionary","title":"Abnormality of the lumbosacral nerve plexus"},{"container-title":"HP:0012286","author":[{"family":"abnormality of hypothalamus morphology"},{"family":"abnormality of the hypothalamus"},{"family":"abnormal shape of hypothalamus"},{"family":"Any structural anomaly of the hypothalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012286","type":"entry-dictionary","title":"Abnormal hypothalamus morphology"},{"container-title":"HP:0045054","author":[{"family":"Brachial plexus neuropathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045054","type":"entry-dictionary","title":"Brachial plexus neuropathy"},{"container-title":"HP:0012287","author":[{"family":"Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012287","type":"entry-dictionary","title":"Hypothalamic luteinizing hormone-releasing hormone deficiency"},{"container-title":"HP:0045055","author":[{"family":"tiger tail banding"},{"family":"A diagnostic alternating light and dark banding pattern under polarizing microscopy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045055","type":"entry-dictionary","title":"Tiger tail banding"},{"container-title":"HP:0012288","author":[{"family":"head and neck cancer"},{"family":"head and neck tumor"},{"family":"A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012288","type":"entry-dictionary","title":"Neoplasm of head and neck"},{"container-title":"HP:0045056","author":[{"family":"Abnormal levels of alpha-fetoprotein"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045056","type":"entry-dictionary","title":"Abnormal levels of alpha-fetoprotein"},{"container-title":"HP:0012289","author":[{"family":"face tumor"},{"family":"A tumor (abnormal growth of tissue) of the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012289","type":"entry-dictionary","title":"Facial neoplasm"},{"container-title":"HP:0045057","author":[{"family":"Decreased levels of alpha-fetoprotein"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045057","type":"entry-dictionary","title":"Decreased levels of alpha-fetoprotein"},{"container-title":"HP:0012290","author":[{"family":"mouth tumor"},{"family":"A tumor (abnormal growth of tissue) of the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012290","type":"entry-dictionary","title":"Mouth neoplasm"},{"container-title":"HP:0045058","author":[{"family":"An anomaly of the size of the testicle (the male gonad)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045058","type":"entry-dictionary","title":"Abnormality of the testis size"},{"container-title":"HP:0045059","author":[{"family":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045059","type":"entry-dictionary","title":"Hyperkeratotic papule"},{"container-title":"HP:0012292","author":[{"family":"upper and lower gums fused together"},{"family":"synechia of the gums"},{"family":"fusion of gums"},{"family":"partial fusion of the gums"},{"family":"fusion of the gingiva"},{"family":"gingival synechia"},{"family":"A congenital defect with an abnormal joining of the gums of the upper and lower jaw."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012292","type":"entry-dictionary","title":"Fusion of gums"},{"container-title":"HP:0045060","author":[{"family":"Aplasia\/hypoplasia involving bones of the extremities"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045060","type":"entry-dictionary","title":"Aplasia\/hypoplasia involving bones of the extremities"},{"container-title":"HP:0012293","author":[{"family":"An abnormal pigmentation pattern of the external genitalia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012293","type":"entry-dictionary","title":"Abnormal genital pigmentation"},{"container-title":"HP:0045061","author":[{"family":"Decreased carnitine level in liver"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045061","type":"entry-dictionary","title":"Decreased carnitine level in liver"},{"container-title":"HP:0012294","author":[{"family":"Abnormality of the occipital bone of the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012294","type":"entry-dictionary","title":"Abnormality of the occipital bone"},{"container-title":"HP:0012295","author":[{"family":"slender middle bone of finger"},{"family":"Reduced diameter of the middle phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012295","type":"entry-dictionary","title":"Slender middle phalanx of finger"},{"container-title":"HP:0045063","author":[{"family":"increased protein increased in vitamin k's absence-ii"},{"family":"Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045063","type":"entry-dictionary","title":"Increased PIVKA-II"},{"container-title":"HP:0012296","author":[{"family":"slender outermost bone of finger"},{"family":"Reduced diameter of the distal phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012296","type":"entry-dictionary","title":"Slender distal phalanx of finger"},{"container-title":"HP:0012297","author":[{"family":"slender innermost bone of finger"},{"family":"Reduced diameter of the proximal phalanx of finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012297","type":"entry-dictionary","title":"Slender proximal phalanx of finger"},{"container-title":"HP:0012298","author":[{"family":"long middle bone of finger"},{"family":"Increased length of the middle phalanx of 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node"},{"container-title":"HP:0045081","author":[{"family":"abnormal bmi"},{"family":"abnormal body mass index"},{"family":"Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045081","type":"entry-dictionary","title":"Abnormality of body mass index"},{"container-title":"HP:0012314","author":[{"family":"Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage thzat are visible radiographically."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012314","type":"entry-dictionary","title":"Bouchard's node"},{"container-title":"HP:0045082","author":[{"family":"decreased bmi"},{"family":"Abnormally decreased weight-to-height squared ratio, calculated by dividing the 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degrees)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045086","type":"entry-dictionary","title":"Knee joint hypermobility"},{"container-title":"HP:0012319","author":[{"family":"Lack of skin pigmentation (coloring) of the abdomen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012319","type":"entry-dictionary","title":"Absent pigmentation of the abdomen"},{"container-title":"HP:0045087","author":[{"family":"Hip joint hypermobility"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0045087","type":"entry-dictionary","title":"Hip joint hypermobility"},{"container-title":"HP:0012320","author":[{"family":"Lack of skin pigmentation (coloring) of the arms and legs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012320","type":"entry-dictionary","title":"Absent pigmentation of the limbs"},{"container-title":"HP:0012321","author":[{"family":"An increased concentration of 2-hydroxyglutaric acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012321","type":"entry-dictionary","title":"D-2-hydroxyglutaric aciduria"},{"container-title":"HP:0012322","author":[{"family":"perifollicular inflammation"},{"family":"Inflammation surrounding hair follicles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012322","type":"entry-dictionary","title":"Perifolliculitis"},{"container-title":"HP:0012323","author":[{"family":"Myoclonus that occurs during the initial phases of sleep."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012323","type":"entry-dictionary","title":"Sleep myoclonus"},{"container-title":"HP:0012324","author":[{"family":"A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012324","type":"entry-dictionary","title":"Myeloid leukemia"},{"container-title":"HP:0012325","author":[{"family":"A myelodysplastic\/myeloproliferative neoplasm which is characterized by persistent 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tooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012328","type":"entry-dictionary","title":"Cementoma"},{"container-title":"HP:0012329","author":[{"family":"progressive capillary hemangioma"},{"family":"tufted hemangioma"},{"family":"angioblastoma of nakagawa"},{"family":"hypertrophic hemangioma"},{"family":"A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012329","type":"entry-dictionary","title":"Tufted angioma"},{"container-title":"HP:0012330","author":[{"family":"An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012330","type":"entry-dictionary","title":"Pyelonephritis"},{"container-title":"HP:0012331","author":[{"family":"A structural abnormality of the autonomic nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012331","type":"entry-dictionary","title":"Abnormal autonomic nervous system morphology"},{"container-title":"HP:0012332","author":[{"family":"A functional abnormality of the autonomic nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012332","type":"entry-dictionary","title":"Abnormal autonomic nervous system physiology"},{"container-title":"HP:0012333","author":[{"family":"sudomotor sympathetic dysfunction"},{"family":"An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012333","type":"entry-dictionary","title":"Abnormal sudomotor regulation"},{"container-title":"HP:0012334","author":[{"family":"Impairment of bile flow due to obstruction in large bile ducts outside the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012334","type":"entry-dictionary","title":"Extrahepatic cholestasis"},{"container-title":"HP:0012335","author":[{"family":"An abnormality of the metabolism of folic acid, which is also known as vitamin B9."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012335","type":"entry-dictionary","title":"Abnormality of folate metabolism"},{"container-title":"HP:0012336","author":[{"family":"reduced csf 5-methyltetrahydrofolate concentration"},{"family":"A decreased concentration of 5-methyltetrahydrofolate in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012336","type":"entry-dictionary","title":"Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration"},{"container-title":"HP:0012337","author":[{"family":"An anomaly in the processes involved in the maintenance of an internal equilibrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012337","type":"entry-dictionary","title":"Abnormal homeostasis"},{"container-title":"HP:0012338","author":[{"family":"abnormal energy expenditure"},{"family":"Any anomaly in the 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glycosylation"},{"container-title":"HP:0012355","author":[{"family":"An anomaly of the addition of mannose to N-linked glycans."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012355","type":"entry-dictionary","title":"Abnormal mannosylation of N-linked protein glycosylation"},{"container-title":"HP:0012356","author":[{"family":"Reduced addition of mannose to N-linked glycans."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012356","type":"entry-dictionary","title":"Decreased mannosylation of N-linked protein glycosylation"},{"container-title":"HP:0012357","author":[{"family":"Increased addition of mannose to N-linked glycans."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012357","type":"entry-dictionary","title":"Increased mannosylation of N-linked protein glycosylation"},{"container-title":"HP:0012358","author":[{"family":"An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012358","type":"entry-dictionary","title":"Abnormal protein O-linked glycosylation"},{"container-title":"HP:0012359","author":[{"family":"An anomaly of the addition of fucose sugar units to O-linked glycans."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012359","type":"entry-dictionary","title":"Abnormal fucosylation of O-linked protein glycosylation"},{"container-title":"HP:0012360","author":[{"family":"A reduction of the addition of fucose sugar units to O-linked glycans."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012360","type":"entry-dictionary","title":"Decreased fucosylation of O-linked protein glycosylation"},{"container-title":"HP:0012361","author":[{"family":"Increased addition of fucose sugar units to O-linked glycans."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012361","type":"entry-dictionary","title":"Increased fucosylation of O-linked protein 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zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012370","type":"entry-dictionary","title":"Prominence of the zygomatic bone"},{"container-title":"HP:0012371","author":[{"family":"midface hyperplasia"},{"family":"overgrowth of the midface"},{"family":"hypertrophy of midface"},{"family":"midfacial prominence"},{"family":"large midface"},{"family":"midfacial excess"},{"family":"big midface"},{"family":"Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012371","type":"entry-dictionary","title":"Hyperplasia of midface"},{"container-title":"HP:0012372","author":[{"family":"abnormal eye morphology"},{"family":"abnormally shaped eye"},{"family":"A structural anomaly of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012372","type":"entry-dictionary","title":"Abnormal eye morphology"},{"container-title":"HP:0012373","author":[{"family":"abnormal eye physiology"},{"family":"A functional anomaly of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012373","type":"entry-dictionary","title":"Abnormal eye physiology"},{"container-title":"HP:0012374","author":[{"family":"abnormality of the globe"},{"family":"An anomaly of the eyeball."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012374","type":"entry-dictionary","title":"Abnormal globe morphology"},{"container-title":"HP:0012375","author":[{"family":"Edema (swelling) of the bulbar conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012375","type":"entry-dictionary","title":"Chemosis"},{"container-title":"HP:0012376","author":[{"family":"small lens"},{"family":"Abnormal smallness of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012376","type":"entry-dictionary","title":"Microphakia"},{"container-title":"HP:0012377","author":[{"family":"hemianopsia"},{"family":"Partial or complete loss of vision in one half of the visual field of one or both eyes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012377","type":"entry-dictionary","title":"Hemianopia"},{"container-title":"HP:0012378","author":[{"family":"tiredness"},{"family":"fatigue"},{"family":"A subjective feeling of tiredness characterized by a lack of energy and motivation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012378","type":"entry-dictionary","title":"Fatigue"},{"container-title":"HP:0012379","author":[{"family":"An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012379","type":"entry-dictionary","title":"Abnormal enzyme\/coenzyme activity"},{"container-title":"HP:0012380","author":[{"family":"Reduced carnitine O-palmitoyltransferase activity, i.e., reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012380","type":"entry-dictionary","title":"Reduced carnitine O-palmitoyltransferase activity"},{"container-title":"HP:0012381","author":[{"family":"A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012381","type":"entry-dictionary","title":"Delayed self-feeding during toddler years"},{"container-title":"HP:0012382","author":[{"family":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012382","type":"entry-dictionary","title":"Left-to-right shunt"},{"container-title":"HP:0012383","author":[{"family":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012383","type":"entry-dictionary","title":"Bidirectional shunt"},{"container-title":"HP:0012384","author":[{"family":"nasal inflammation"},{"family":"Inflammation of the nasal mucosa with nasal congestion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012384","type":"entry-dictionary","title":"Rhinitis"},{"container-title":"HP:0012385","author":[{"family":"The distal interphalangeal joint and\/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012385","type":"entry-dictionary","title":"Camptodactyly"},{"container-title":"HP:0012386","author":[{"family":"missing big toe"},{"family":"agenesis of the halluces"},{"family":"aplasia of the hallux"},{"family":"absent big toe"},{"family":"Aplasia of the hallux, that is, a development defect such that the big toe does not develop."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012386","type":"entry-dictionary","title":"Absent hallux"},{"container-title":"HP:0012387","author":[{"family":"Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012387","type":"entry-dictionary","title":"Bronchitis"},{"container-title":"HP:0012388","author":[{"family":"Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012388","type":"entry-dictionary","title":"Acute bronchitis"},{"container-title":"HP:0012389","author":[{"family":"Muscular hypotonia of one or more limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012389","type":"entry-dictionary","title":"Appendicular hypotonia"},{"container-title":"HP:0012390","author":[{"family":"anal erosion"},{"family":"A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012390","type":"entry-dictionary","title":"Anal fissure"},{"container-title":"HP:0012391","author":[{"family":"Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012391","type":"entry-dictionary","title":"Hyporeflexia of upper limbs"},{"container-title":"HP:0012392","author":[{"family":"mandibular hyporeflexia"},{"family":"Reduced intensity of muscle tendon reflexes in jaw."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012392","type":"entry-dictionary","title":"Jaw hyporeflexia"},{"container-title":"HP:0012393","author":[{"family":"allergy"},{"family":"An allergy is an immune response or reaction to substances that are usually not harmful."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012393","type":"entry-dictionary","title":"Allergy"},{"container-title":"HP:0012394","author":[{"family":"Allergy to iodine contrast media used in radiological studies."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012394","type":"entry-dictionary","title":"Iodine contrast allergy"},{"container-title":"HP:0012395","author":[{"family":"seasonal allergy"},{"family":"An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012395","type":"entry-dictionary","title":"Seasonal allergy"},{"container-title":"HP:0012396","author":[{"family":"A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012396","type":"entry-dictionary","title":"Biliary dyskinesia"},{"container-title":"HP:0012397","author":[{"family":"atherosclerosis of the aorta"},{"family":"atherosclerotic changes of aorta"},{"family":"plaque build-up in aorta artery"},{"family":"The presence of atheromas or atherosclerotic plaques in the aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012397","type":"entry-dictionary","title":"Aortic atherosclerosis"},{"container-title":"HP:0012398","author":[{"family":"An abnormal accumulation of the accumulation of interstitial fluid in the soft tissues of the limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012398","type":"entry-dictionary","title":"Peripheral edema"},{"container-title":"HP:0012399","author":[{"family":"bedsore"},{"family":"decubitus ulcer"},{"family":"pressure sore"},{"family":"pressure ulcer"},{"family":"A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012399","type":"entry-dictionary","title":"Pressure ulcer"},{"container-title":"HP:0012400","author":[{"family":"An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012400","type":"entry-dictionary","title":"Abnormal aldolase level"},{"container-title":"HP:0012401","author":[{"family":"abnormality of urine alpha ketoglutarate concentration"},{"family":"abnormal urinary 2-oxoglutarate level"},{"family":"A deviation from normal of the concentration of 2-oxoglutaric acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012401","type":"entry-dictionary","title":"Abnormal urine alpha-ketoglutarate concentration"},{"container-title":"HP:0012402","author":[{"family":"increased urine alpha-ketoglutarate concentration"},{"family":"elevated urinary 2-oxoglutarate"},{"family":"A greater than normal concentration of 2-oxoglutaric acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012402","type":"entry-dictionary","title":"Increased urine alpha-ketoglutarate concentration"},{"container-title":"HP:0012403","author":[{"family":"decreased urinary 2-oxoglutarate"},{"family":"A lower than normal concentration of 2-oxoglutaric acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012403","type":"entry-dictionary","title":"Decreased urine alpha-ketoglutarate concentration"},{"container-title":"HP:0012404","author":[{"family":"abnormal urine citrate concentration"},{"family":"A deviation from normal of the concentration of citrate(3-) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012404","type":"entry-dictionary","title":"Abnormal urine citrate concentration"},{"container-title":"HP:0012405","author":[{"family":"decreased urine citrate concentration"},{"family":"A lower than normal concentration of citrate(3-) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012405","type":"entry-dictionary","title":"Hypocitraturia"},{"container-title":"HP:0012406","author":[{"family":"increased urine citrate concentration"},{"family":"A greater than normal concentration of citrate(3-) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012406","type":"entry-dictionary","title":"Hypercitraturia"},{"container-title":"HP:0012407","author":[{"family":"scissor walk"},{"family":"scissor gait"},{"family":"scissors gait"},{"family":"A form of gait abnormality characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012407","type":"entry-dictionary","title":"Scissor gait"},{"container-title":"HP:0012408","author":[{"family":"The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012408","type":"entry-dictionary","title":"Medullary nephrocalcinosis"},{"container-title":"HP:0012409","author":[{"family":"The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012409","type":"entry-dictionary","title":"Cortical nephrocalcinosis"},{"container-title":"HP:0012410","author":[{"family":"red cell aplasia"},{"family":"A type of anemia resuting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012410","type":"entry-dictionary","title":"Pure red cell aplasia"},{"container-title":"HP:0012411","author":[{"family":"premature pubic hair growth"},{"family":"The onset of growth of pubic hair at an earlier age than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012411","type":"entry-dictionary","title":"Premature pubarche"},{"container-title":"HP:0012412","author":[{"family":"Onset of adrenarche at an earlier age than usual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012412","type":"entry-dictionary","title":"Premature adrenarche"},{"container-title":"HP:0012413","author":[{"family":"notched front baby tooth"},{"family":"hutchinson's incisor"},{"family":"syphilitic primary incisor"},{"family":"notched front primary tooth"},{"family":"hutchinson-boeck teeth"},{"family":"hutchinson's teeth"},{"family":"notched front deciduous tooth"},{"family":"hutchinson's sign"},{"family":"The presence of a V-shaped indentation (notch) in the primary central incisor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012413","type":"entry-dictionary","title":"Notched primary central incisor"},{"container-title":"HP:0012414","author":[{"family":"Wasting or decrease in size of all or part of the duodenum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012414","type":"entry-dictionary","title":"Duodenal atrophy"},{"container-title":"HP:0012415","author":[{"family":"abnormal blood gas level"},{"family":"An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012415","type":"entry-dictionary","title":"Abnormal blood gas level"},{"container-title":"HP:0012416","author":[{"family":"hypercarbia"},{"family":"high blood carbon dioxide level"},{"family":"Abnormally elevated blood carbon dioxide (CO2) level."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012416","type":"entry-dictionary","title":"Hypercapnia"},{"container-title":"HP:0012417","author":[{"family":"hypocarbia"},{"family":"reduced carbon dioxide in the blood"},{"family":"Abnormally reduced blood carbon dioxide (CO2) level."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012417","type":"entry-dictionary","title":"Hypocapnia"},{"container-title":"HP:0012418","author":[{"family":"low blood oxygen level"},{"family":"An abnormally low level of blood oxygen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012418","type":"entry-dictionary","title":"Hypoxemia"},{"container-title":"HP:0012419","author":[{"family":"An abnormally high level of blood oxygen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012419","type":"entry-dictionary","title":"Hyperoxemia"},{"container-title":"HP:0012420","author":[{"family":"meconium-stained amniotic fluid"},{"family":"meconium staining of amniotic fluid"},{"family":"Amniotic fluid containing the earliest stools of a mammalian infant."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012420","type":"entry-dictionary","title":"Meconium stained amniotic fluid"},{"container-title":"HP:0012421","author":[{"family":"absent foreskin"},{"family":"aposthia"},{"family":"Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012421","type":"entry-dictionary","title":"Congenital absence of foreskin"},{"container-title":"HP:0012422","author":[{"family":"choroid plexus hypertrophy"},{"family":"diffuse villous hypertrophy of choroid plexus"},{"family":"Overgrowth of the choroid plexus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012422","type":"entry-dictionary","title":"Villous hypertrophy of choroid plexus"},{"container-title":"HP:0012423","author":[{"family":"The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012423","type":"entry-dictionary","title":"Colonic inertia"},{"container-title":"HP:0012424","author":[{"family":"An inflammation of the choroid and retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012424","type":"entry-dictionary","title":"Chorioretinitis"},{"container-title":"HP:0012425","author":[{"family":"recto-sigmoid colon stercoral ulcer"},{"family":"colon ulcer"},{"family":"An ulcer of the colon due to pressure and irritation from retained fecal masses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012425","type":"entry-dictionary","title":"Stercoral ulcer"},{"container-title":"HP:0012426","author":[{"family":"Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012426","type":"entry-dictionary","title":"Optic disc drusen"},{"container-title":"HP:0012427","author":[{"family":"An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012427","type":"entry-dictionary","title":"Excessive femoral anteversion"},{"container-title":"HP:0012428","author":[{"family":"prominent heel bone"},{"family":"Protruding heel bone, or calcaneus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012428","type":"entry-dictionary","title":"Prominent calcaneus"},{"container-title":"HP:0012429","author":[{"family":"absent\/small cerebral white matter"},{"family":"absent\/underdeveloped cerebral white matter"},{"family":"Absence or underdevelopment of the cerebral white matter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012429","type":"entry-dictionary","title":"Aplasia\/Hypoplasia of the cerebral white matter"},{"container-title":"HP:0012430","author":[{"family":"paucity of cerebral white matter"},{"family":"Underdevelopment of the cerebral white matter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012430","type":"entry-dictionary","title":"Cerebral white matter hypoplasia"},{"container-title":"HP:0012431","author":[{"family":"Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012431","type":"entry-dictionary","title":"Episodic fatigue"},{"container-title":"HP:0012432","author":[{"family":"chronic fatigue"},{"family":"chronic extreme exhaustion"},{"family":"Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012432","type":"entry-dictionary","title":"Chronic fatigue"},{"container-title":"HP:0012433","author":[{"family":"abnormal social behavior"},{"family":"abnormal social behaviour"},{"family":"abnormal social interactions"},{"family":"An abnormality of actions or reactions of a person taking place during interactions with others."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012433","type":"entry-dictionary","title":"Abnormal social behavior"},{"container-title":"HP:0012434","author":[{"family":"delayed social development"},{"family":"A failure to meet one or more age-related milestones of social behavior."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012434","type":"entry-dictionary","title":"Delayed social development"},{"container-title":"HP:0012435","author":[{"family":"Reduction in length of the ventral (lower) skin of prepuce of penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012435","type":"entry-dictionary","title":"Ventral shortening of foreskin"},{"container-title":"HP:0012436","author":[{"family":"non-occlusive coronary artery stenosis"},{"family":"nonocclusive coronary artery stenosis"},{"family":"nonocclusive coronary artery disease"},{"family":"non-occlusive coronary artery disease"},{"family":"Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012436","type":"entry-dictionary","title":"Nonocclusive coronary artery atherosclerosis"},{"container-title":"HP:0012437","author":[{"family":"abnormal shape of gallbladder"},{"family":"abnormal gallbladder morphology"},{"family":"A structural anomaly of the gallbladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012437","type":"entry-dictionary","title":"Abnormal gallbladder morphology"},{"container-title":"HP:0012438","author":[{"family":"A functional anomaly of the gallbladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012438","type":"entry-dictionary","title":"Abnormal gallbladder physiology"},{"container-title":"HP:0012439","author":[{"family":"A functional abnormality of the biliary tree."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012439","type":"entry-dictionary","title":"Abnormal biliary tract 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brain"},{"family":"A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012443","type":"entry-dictionary","title":"Abnormality of brain morphology"},{"container-title":"HP:0012444","author":[{"family":"brain wasting"},{"family":"brain degeneration"},{"family":"Partial or complete wasting (loss) of brain tissue that was once present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012444","type":"entry-dictionary","title":"Brain atrophy"},{"container-title":"HP:0012446","author":[{"family":"cerebral folate deficiency"},{"family":"A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012446","type":"entry-dictionary","title":"Low CSF 5-methyltetrahydrofolate"},{"container-title":"HP:0012447","author":[{"family":"Any anomaly in the process by which myelin sheaths are formed and maintained around neurons."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012447","type":"entry-dictionary","title":"Abnormal myelination"},{"container-title":"HP:0012448","author":[{"family":"Delayed myelination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012448","type":"entry-dictionary","title":"Delayed myelination"},{"container-title":"HP:0012449","author":[{"family":"Inflammation of the synovial membrane of the sacroiliac joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012449","type":"entry-dictionary","title":"Sacroiliac joint synovitis"},{"container-title":"HP:0012450","author":[{"family":"infrequent bowel movements"},{"family":"chronic constipation"},{"family":"Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012450","type":"entry-dictionary","title":"Chronic constipation"},{"container-title":"HP:0012451","author":[{"family":"Constipation of sudden onset and lasting for less than three months."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012451","type":"entry-dictionary","title":"Acute constipation"},{"container-title":"HP:0012452","author":[{"family":"willis-ekbom disease"},{"family":"restless legs syndrome"},{"family":"wittmaack-ekbom syndrome"},{"family":"A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012452","type":"entry-dictionary","title":"Restless legs"},{"container-title":"HP:0012453","author":[{"family":"bilateral wrist contracture"},{"family":"A chronic loss of wrist joint motion on the right and left sides."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012453","type":"entry-dictionary","title":"Bilateral wrist flexion contracture"},{"container-title":"HP:0012454","author":[{"family":"unilateral wrist contracture"},{"family":"A chronic loss of wrist joint motion on one side only."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012454","type":"entry-dictionary","title":"Unilateral wrist flexion contracture"},{"container-title":"HP:0012456","author":[{"family":"Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012456","type":"entry-dictionary","title":"Medial arterial calcification"},{"container-title":"HP:0012457","author":[{"family":"Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012457","type":"entry-dictionary","title":"Medial calcification of medium-sized arteries"},{"container-title":"HP:0012458","author":[{"family":"Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012458","type":"entry-dictionary","title":"Medial calcification of small arteries"},{"container-title":"HP:0012459","author":[{"family":"alarm clock headache"},{"family":"A headache disorder that occurs exclusively at night, waking the affected individual from sleep."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012459","type":"entry-dictionary","title":"Hypnic headache"},{"container-title":"HP:0012460","author":[{"family":"A structural anomaly of the inferior portion of the vermis of cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012460","type":"entry-dictionary","title":"Dysmorphic inferior cerebellar vermis"},{"container-title":"HP:0012461","author":[{"family":"high urine bacteria"},{"family":"bacteria in urine"},{"family":"The presence of bacteria in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012461","type":"entry-dictionary","title":"Bacteriuria"},{"container-title":"HP:0012462","author":[{"family":"geniospasm"},{"family":"chin spasms"},{"family":"Involuntary and irregular twitches of the chin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012462","type":"entry-dictionary","title":"Chin myoclonus"},{"container-title":"HP:0012463","author":[{"family":"An above normal level of saturation of serum transferrin with iron."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012463","type":"entry-dictionary","title":"Elevated transferrin saturation"},{"container-title":"HP:0012464","author":[{"family":"A below normal level of saturation of serum transferrin with iron."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012464","type":"entry-dictionary","title":"Decreased transferrin saturation"},{"container-title":"HP:0012465","author":[{"family":"increased iron concentration in liver"},{"family":"increased liver iron level"},{"family":"An increased level of iron in liver tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012465","type":"entry-dictionary","title":"Elevated hepatic iron concentration"},{"container-title":"HP:0012466","author":[{"family":"Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq\/L)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012466","type":"entry-dictionary","title":"Chronic respiratory acidosis"},{"container-title":"HP:0012467","author":[{"family":"Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012467","type":"entry-dictionary","title":"Acute respiratory acidosis"},{"container-title":"HP:0012468","author":[{"family":"Longstanding abnormal acid accumulation or depletion of base."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012468","type":"entry-dictionary","title":"Chronic acidosis"},{"container-title":"HP:0012469","author":[{"family":"Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012469","type":"entry-dictionary","title":"Infantile spasms"},{"container-title":"HP:0012470","author":[{"family":"eyes fixed downward"},{"family":"setting-sun eye phenomenon"},{"family":"sun setting eyes"},{"family":"sunsetting eye"},{"family":"An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012470","type":"entry-dictionary","title":"Setting-sun eye phenomenon"},{"container-title":"HP:0012471","author":[{"family":"prominent lips"},{"family":"plump lips"},{"family":"increased volume of lip vermillion"},{"family":"thick lips"},{"family":"full lips"},{"family":"Increased width of the skin of vermilion border region of upper lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012471","type":"entry-dictionary","title":"Thick vermilion border"},{"container-title":"HP:0012472","author":[{"family":"everted lips"},{"family":"eclabium"},{"family":"outward turned lips"},{"family":"A turning outward of the lip or lips, that is, eversion of the lips."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012472","type":"entry-dictionary","title":"Eclabion"},{"container-title":"HP:0012473","author":[{"family":"lingual wasting"},{"family":"atrophy of the tongue"},{"family":"lingual atrophy"},{"family":"wasting of the tongue"},{"family":"Wasting of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012473","type":"entry-dictionary","title":"Tongue atrophy"},{"container-title":"HP:0012474","author":[{"family":"obstructed carotid artery"},{"family":"Complete obstruction of a carotid artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012474","type":"entry-dictionary","title":"Carotid artery occlusion"},{"container-title":"HP:0012475","author":[{"family":"The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012475","type":"entry-dictionary","title":"Specific antibody deficiency"},{"container-title":"HP:0012476","author":[{"family":"The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012476","type":"entry-dictionary","title":"Specific pneumococcal antibody deficiency"},{"container-title":"HP:0012477","author":[{"family":"vocal tremor"},{"family":"shakey voice"},{"family":"A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012477","type":"entry-dictionary","title":"Vocal tremor"},{"container-title":"HP:0012478","author":[{"family":"freezing of jaw joint"},{"family":"rigidity of the temporomandibular joint"},{"family":"temporomandibular joint fusion"},{"family":"adhesion of the temporomandibular joint"},{"family":"freezing of the temporomandibular joint"},{"family":"Fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012478","type":"entry-dictionary","title":"Temporomandibular joint ankylosis"},{"container-title":"HP:0012479","author":[{"family":"temporomandibular joint popping sound"},{"family":"jaw joint popping sound"},{"family":"jaw joint crepitus"},{"family":"temporomandibular joint noise"},{"family":"jaw joint clicking sound"},{"family":"temporomandibular joint grating sound"},{"family":"jaw joint noise"},{"family":"temporomandibular joint sounds"},{"family":"jaw joint sounds"},{"family":"jaw joint grating sound"},{"family":"temporomandibular joint clicking sound"},{"family":"Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012479","type":"entry-dictionary","title":"Temporomandibular joint crepitus"},{"container-title":"HP:0012480","author":[{"family":"An anomaly of cerebral veins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012480","type":"entry-dictionary","title":"Abnormality of cerebral veins"},{"container-title":"HP:0012481","author":[{"family":"developmental venous anomaly"},{"family":"A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012481","type":"entry-dictionary","title":"Cerebral venous angioma"},{"container-title":"HP:0012482","author":[{"family":"A venous angioma of the frontal lobe of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012482","type":"entry-dictionary","title":"Frontal venous angioma"},{"container-title":"HP:0012483","author":[{"family":"Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012483","type":"entry-dictionary","title":"Abnormal alpha granules"},{"container-title":"HP:0012484","author":[{"family":"Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium , histamine and serotonin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012484","type":"entry-dictionary","title":"Abnormal dense granules"},{"container-title":"HP:0012485","author":[{"family":"An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012485","type":"entry-dictionary","title":"Abnormal surface-connected open canalicular system"},{"container-title":"HP:0012486","author":[{"family":"inflammation of spinal cord"},{"family":"Inflammation of the spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012486","type":"entry-dictionary","title":"Myelitis"},{"container-title":"HP:0012487","author":[{"family":"An arachnoid cyst located at the margin of the cerebellum and pons."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012487","type":"entry-dictionary","title":"Cerebellopontine angle arachnoid cyst"},{"container-title":"HP:0012488","author":[{"family":"An arachnoid cyst located within the ventricular system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012488","type":"entry-dictionary","title":"Intraventricular arachnoid cyst"},{"container-title":"HP:0012489","author":[{"family":"An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012489","type":"entry-dictionary","title":"Suprasellar arachnoid cyst"},{"container-title":"HP:0012490","author":[{"family":"inflammation of adipose tissue"},{"family":"inflammation of fat tissue"},{"family":"Inflammation of adipose tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012490","type":"entry-dictionary","title":"Panniculitis"},{"container-title":"HP:0012491","author":[{"family":"An anomaly of the intracellular membrane complexes known as the dense tubular system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012491","type":"entry-dictionary","title":"Abnormal dense tubular system"},{"container-title":"HP:0012492","author":[{"family":"narrowing of a cerebral artery"},{"family":"Narrowing or constriction of the inner surface (lumen) of a cerebral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012492","type":"entry-dictionary","title":"Cerebral artery stenosis"},{"container-title":"HP:0012493","author":[{"family":"Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012493","type":"entry-dictionary","title":"Middle cerebral artery stenosis"},{"container-title":"HP:0012494","author":[{"family":"Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012494","type":"entry-dictionary","title":"Anterior cerebral artery stenosis"},{"container-title":"HP:0012495","author":[{"family":"Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012495","type":"entry-dictionary","title":"Posterior cerebral artery stenosis"},{"container-title":"HP:0012496","author":[{"family":"A decrease in the maximum amount of negative pressure a person can generate during an inhalation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012496","type":"entry-dictionary","title":"Reduced maximal inspiratory pressure"},{"container-title":"HP:0012497","author":[{"family":"A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012497","type":"entry-dictionary","title":"Reduced maximal expiratory pressure"},{"container-title":"HP:0012498","author":[{"family":"A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012498","type":"entry-dictionary","title":"Nuchal cord"},{"container-title":"HP:0012499","author":[{"family":"type b aortic dissection"},{"family":"A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012499","type":"entry-dictionary","title":"Descending aortic dissection"},{"container-title":"HP:0012500","author":[{"family":"papillomatous papule"},{"family":"A wartlike (with multiple small elevated projections) papule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012500","type":"entry-dictionary","title":"Verrucous papule"},{"container-title":"HP:0012501","author":[{"family":"An anomaly of the white matter of brainstem."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012501","type":"entry-dictionary","title":"Abnormality of the brainstem white matter"},{"container-title":"HP:0012502","author":[{"family":"An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012502","type":"entry-dictionary","title":"Abnormality of the internal capsule"},{"container-title":"HP:0012503","author":[{"family":"disorder of pituitary gland"},{"family":"An anomaly of the pituitary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012503","type":"entry-dictionary","title":"Abnormality of the pituitary gland"},{"container-title":"HP:0012504","author":[{"family":"A deviation from the normal size of the pituitary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012504","type":"entry-dictionary","title":"Abnormal size of pituitary gland"},{"container-title":"HP:0012505","author":[{"family":"An abnormally increased size of the pituitary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012505","type":"entry-dictionary","title":"Enlarged pituitary gland"},{"container-title":"HP:0012506","author":[{"family":"An abnormally decreased size of the pituitary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012506","type":"entry-dictionary","title":"Small pituitary gland"},{"container-title":"HP:0012507","author":[{"family":"weakness of orbicularis oculi muscles"},{"family":"Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012507","type":"entry-dictionary","title":"Weakness of orbicularis oculi muscle"},{"container-title":"HP:0012508","author":[{"family":"A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012508","type":"entry-dictionary","title":"Metamorphopsia"},{"container-title":"HP:0012509","author":[{"family":"An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012509","type":"entry-dictionary","title":"Reduced thyroxin-binding globulin"},{"container-title":"HP:0012510","author":[{"family":"An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012510","type":"entry-dictionary","title":"Extra-axial cerebrospinal fluid accumulation"},{"container-title":"HP:0012511","author":[{"family":"A pale yellow discoloration of the temporal (lateral) portion of the optic disc."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012511","type":"entry-dictionary","title":"Temporal optic disc pallor"},{"container-title":"HP:0012512","author":[{"family":"A pale yellow discoloration of the entire optic disc."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012512","type":"entry-dictionary","title":"Diffuse optic disc pallor"},{"container-title":"HP:0012513","author":[{"family":"upper limb pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012513","type":"entry-dictionary","title":"Upper limb pain"},{"container-title":"HP:0012514","author":[{"family":"lower limb pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012514","type":"entry-dictionary","title":"Lower limb pain"},{"container-title":"HP:0012515","author":[{"family":"Reduced ability to flex the femur, that is, to pull the knee upward."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012515","type":"entry-dictionary","title":"Hip flexor weakness"},{"container-title":"HP:0012516","author":[{"family":"An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012516","type":"entry-dictionary","title":"Tetralogy of Fallot with pulmonary atresia"},{"container-title":"HP:0012517","author":[{"family":"An abnormally decreased amount of catalase activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012517","type":"entry-dictionary","title":"Reduced catalase activity"},{"container-title":"HP:0012518","author":[{"family":"abnormality of the cerebral arterial circle"},{"family":"An anomaly of the circle of Willis, also known as the cerebral arterial circle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012518","type":"entry-dictionary","title":"Abnormal circle of Willis morphology"},{"container-title":"HP:0012519","author":[{"family":"hypoplastic posterior communicating arteries"},{"family":"Underdeveloped posterior communicating artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012519","type":"entry-dictionary","title":"Hypoplastic posterior communicating artery"},{"container-title":"HP:0012520","author":[{"family":"dilated cerebral perivascular spaces"},{"family":"dilated virchow-robin spaces"},{"family":"dilatation of virchow-robin spaces"},{"family":"Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012520","type":"entry-dictionary","title":"Perivascular spaces"},{"container-title":"HP:0012521","author":[{"family":"aplastic optic nerve"},{"family":"absent optic nerve"},{"family":"Congenital absence of the optic nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012521","type":"entry-dictionary","title":"Optic nerve aplasia"},{"container-title":"HP:0012522","author":[{"family":"A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012522","type":"entry-dictionary","title":"Spider hemangioma"},{"container-title":"HP:0012523","author":[{"family":"Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012523","type":"entry-dictionary","title":"Oral aversion"},{"container-title":"HP:0012524","author":[{"family":"A deviation from the normal discoid platelet shape."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012524","type":"entry-dictionary","title":"Abnormal platelet shape"},{"container-title":"HP:0012525","author":[{"family":"An anomalous location and arrangement of platelet alpha granules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012525","type":"entry-dictionary","title":"Abnormal alpha granule distribution"},{"container-title":"HP:0012526","author":[{"family":"gray platelets"},{"family":"grey platelets"},{"family":"A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012526","type":"entry-dictionary","title":"Absence of alpha granules"},{"container-title":"HP:0012527","author":[{"family":"A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012527","type":"entry-dictionary","title":"Abnormal alpha granule content"},{"container-title":"HP:0012528","author":[{"family":"A deviation from the normal count of alpha granules per thrombocyte."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012528","type":"entry-dictionary","title":"Abnormal number of alpha granules"},{"container-title":"HP:0012529","author":[{"family":"A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012529","type":"entry-dictionary","title":"Abnormal dense granule content"},{"container-title":"HP:0012530","author":[{"family":"A deviation from the normal count of dense granules per thrombocyte."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012530","type":"entry-dictionary","title":"Abnormal number of dense granules"},{"container-title":"HP:0012531","author":[{"family":"pain"},{"family":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012531","type":"entry-dictionary","title":"Pain"},{"container-title":"HP:0012532","author":[{"family":"chronic pain"},{"family":"long-lasting pain"},{"family":"Persistent pain, usually defined as pain that has laster longer than 3 to 6 months."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012532","type":"entry-dictionary","title":"Chronic pain"},{"container-title":"HP:0012533","author":[{"family":"Pain due to a stimulus that does not normally provoke pain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012533","type":"entry-dictionary","title":"Allodynia"},{"container-title":"HP:0012534","author":[{"family":"dysaesthesia"},{"family":"dysesthesias"},{"family":"Abnormal sensations with no apparent physical cause that are painful or unpleasant."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012534","type":"entry-dictionary","title":"Dysesthesia"},{"container-title":"HP:0012535","author":[{"family":"abnormality of neurotransmitter metabolism"},{"family":"An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012535","type":"entry-dictionary","title":"Abnormal synaptic transmission"},{"container-title":"HP:0012536","author":[{"family":"The presence of circulating autoantibodies to anticardiolipin in the mother."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012536","type":"entry-dictionary","title":"Maternal anticardiolipin antibody positive"},{"container-title":"HP:0012537","author":[{"family":"non-allergic food hypersensitivity"},{"family":"food intolerance"},{"family":"A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012537","type":"entry-dictionary","title":"Food intolerance"},{"container-title":"HP:0012538","author":[{"family":"gluten sensitivity"},{"family":"gluten intolerance"},{"family":"A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012538","type":"entry-dictionary","title":"Gluten intolerance"},{"container-title":"HP:0012539","author":[{"family":"A typer of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012539","type":"entry-dictionary","title":"Non-Hodgkin lymphoma"},{"container-title":"HP:0012540","author":[{"family":"armpit cyst"},{"family":"An epidermoid cyst in the armpit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012540","type":"entry-dictionary","title":"Axillary epidermoid cyst"},{"container-title":"HP:0012541","author":[{"family":"cephalohaematoma"},{"family":"Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012541","type":"entry-dictionary","title":"Cephalohematoma"},{"container-title":"HP:0012542","author":[{"family":"Thickened nails without deformity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012542","type":"entry-dictionary","title":"Onychauxis"},{"container-title":"HP:0012543","author":[{"family":"The presence of hemosiderin in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012543","type":"entry-dictionary","title":"Hemosiderinuria"},{"container-title":"HP:0012544","author":[{"family":"An increased concentration of fructose 1,6-bisphosphate aldolase in the serum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012544","type":"entry-dictionary","title":"Elevated aldolase level"},{"container-title":"HP:0012545","author":[{"family":"An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012545","type":"entry-dictionary","title":"Reduced aldolase level"},{"container-title":"HP:0012546","author":[{"family":"A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012546","type":"entry-dictionary","title":"Skewed maternal X inactivation"},{"container-title":"HP:0012547","author":[{"family":"Anomalous movements of the eyes that occur without the subject wanting them to happen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012547","type":"entry-dictionary","title":"Abnormal involuntary eye movements"},{"container-title":"HP:0012548","author":[{"family":"skeletal muscle fatty infiltration"},{"family":"Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012548","type":"entry-dictionary","title":"Fatty replacement of skeletal muscle"},{"container-title":"HP:0012549","author":[{"family":"A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012549","type":"entry-dictionary","title":"Conjunctival lipoma"},{"container-title":"HP:0012550","author":[{"family":"The presence of varices (enlarged and convoluted blood vessels) in the colon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012550","type":"entry-dictionary","title":"Colonic varices"},{"container-title":"HP:0012551","author":[{"family":"Lack of specific granules in neutrophils."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012551","type":"entry-dictionary","title":"Absent neutrophil specific granules"},{"container-title":"HP:0012552","author":[{"family":"Presence of an elevanted number of projections from nuclei of neutrophils. Ths projections can have the shape of hooks, tags, or clubs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012552","type":"entry-dictionary","title":"Increased neutrophil nuclear projections"},{"container-title":"HP:0012553","author":[{"family":"underdeveloped thumbnail"},{"family":"small thumbnail"},{"family":"A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012553","type":"entry-dictionary","title":"Hypoplastic thumbnail"},{"container-title":"HP:0012554","author":[{"family":"Absence of thumb nail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012554","type":"entry-dictionary","title":"Absent thumbnail"},{"container-title":"HP:0012555","author":[{"family":"absent nail of big toe"},{"family":"absent big toe nail"},{"family":"Absent nail of big toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012555","type":"entry-dictionary","title":"Absent nail of hallux"},{"container-title":"HP:0012556","author":[{"family":"high blood beta-alanine levels"},{"family":"hyperbeta-alaninemia"},{"family":"Increased concentration of beta-alanine in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012556","type":"entry-dictionary","title":"Hyperbetaalaninemia"},{"container-title":"HP:0012557","author":[{"family":"EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012557","type":"entry-dictionary","title":"EEG with centrotemporal focal spike waves"},{"container-title":"HP:0012558","author":[{"family":"A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012558","type":"entry-dictionary","title":"Abnormal T3\/T4 ratio"},{"container-title":"HP:0012559","author":[{"family":"A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012559","type":"entry-dictionary","title":"Increased T3\/T4 ratio"},{"container-title":"HP:0012560","author":[{"family":"A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012560","type":"entry-dictionary","title":"Decreased T3\/T4 ratio"},{"container-title":"HP:0012561","author":[{"family":"The presence of an aortic valve with one instead of the normal three cusps (flaps)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012561","type":"entry-dictionary","title":"Unicuspid aortic valve"},{"container-title":"HP:0012562","author":[{"family":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012562","type":"entry-dictionary","title":"Premature epimetaphyseal fusion in hand"},{"container-title":"HP:0012563","author":[{"family":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012563","type":"entry-dictionary","title":"Premature epimetaphyseal fusion in foot"},{"container-title":"HP:0012564","author":[{"family":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012564","type":"entry-dictionary","title":"Premature epimetaphyseal fusion in tibia"},{"container-title":"HP:0012565","author":[{"family":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012565","type":"entry-dictionary","title":"Premature epimetaphyseal fusion in fibula"},{"container-title":"HP:0012566","author":[{"family":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012566","type":"entry-dictionary","title":"Premature epimetaphyseal fusion in radius"},{"container-title":"HP:0012567","author":[{"family":"Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012567","type":"entry-dictionary","title":"Premature epimetaphyseal fusion in ulna"},{"container-title":"HP:0012568","author":[{"family":"cellulitis of lower eyelid"},{"family":"fullness of lower eyelid"},{"family":"swelling of lower eyelid"},{"family":"puffiness of lower eyelid"},{"family":"Edema in the region of the Lower eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012568","type":"entry-dictionary","title":"Lower eyelid edema"},{"container-title":"HP:0012569","author":[{"family":"delayed start of first period"},{"family":"First period after the age of 15 years."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012569","type":"entry-dictionary","title":"Delayed menarche"},{"container-title":"HP:0012570","author":[{"family":"malignant synovioma"},{"family":"A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012570","type":"entry-dictionary","title":"Synovial sarcoma"},{"container-title":"HP:0012571","author":[{"family":"partially duplicated ureter"},{"family":"A partial duplication of the ureter such that the duplicated ureters fuse to a single ureter before their insertion into the bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012571","type":"entry-dictionary","title":"Ureter fissus"},{"container-title":"HP:0012572","author":[{"family":"A complete duplication of the ureter such that the duplicated ureters with separate insertions into the bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012572","type":"entry-dictionary","title":"Ureter duplex"},{"container-title":"HP:0012573","author":[{"family":"A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012573","type":"entry-dictionary","title":"Global proximal tubulopathy"},{"container-title":"HP:0012574","author":[{"family":"mesangial proliferation"},{"family":"Increased numbers of mesangial cells per glomerulus, defined as four or more nuclei in a peripheral mesangial segment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012574","type":"entry-dictionary","title":"Mesangial hypercellularity"},{"container-title":"HP:0012575","author":[{"family":"A structural anomaly of the nephron."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012575","type":"entry-dictionary","title":"Abnormality of the nephron"},{"container-title":"HP:0012576","author":[{"family":"renal c3 deposition"},{"family":"c3 nephropathy"},{"family":"The presence of complement 3 deposits in the glomerulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012576","type":"entry-dictionary","title":"Glomerular C3 deposition"},{"container-title":"HP:0012577","author":[{"family":"Reduction in thickness of the basal lamina of the glomerulus of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012577","type":"entry-dictionary","title":"Thin glomerular basement membrane"},{"container-title":"HP:0012578","author":[{"family":"membranous glomerulonephritis"},{"family":"A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012578","type":"entry-dictionary","title":"Membranous nephropathy"},{"container-title":"HP:0012579","author":[{"family":"minimal change nephropathy"},{"family":"minimal change disease"},{"family":"The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012579","type":"entry-dictionary","title":"Minimal change glomerulonephritis"},{"container-title":"HP:0012580","author":[{"family":"calcium phosphate urolithiasis"},{"family":"The presence of calcium- and phosphate-containing calculi (stones) in the kidneys."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012580","type":"entry-dictionary","title":"Calcium phosphate nephrolithiasis"},{"container-title":"HP:0012581","author":[{"family":"simple kidney cyst"},{"family":"An isolated cyst of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012581","type":"entry-dictionary","title":"Solitary renal cyst"},{"container-title":"HP:0012582","author":[{"family":"A bilateral form of developmental dysplasia of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012582","type":"entry-dictionary","title":"Bilateral renal dysplasia"},{"container-title":"HP:0012583","author":[{"family":"underdeveloped kidney on one side"},{"family":"small kidney on one side"},{"family":"One sided hypoplasia of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012583","type":"entry-dictionary","title":"Unilateral renal hypoplasia"},{"container-title":"HP:0012584","author":[{"family":"Two sided hypoplasia of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012584","type":"entry-dictionary","title":"Bilateral renal hypoplasia"},{"container-title":"HP:0012585","author":[{"family":"kidney degeneration"},{"family":"Atrophy of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012585","type":"entry-dictionary","title":"Renal atrophy"},{"container-title":"HP:0012586","author":[{"family":"bilateral kidney degeneration"},{"family":"A two-sided form of atrophy of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012586","type":"entry-dictionary","title":"Bilateral renal atrophy"},{"container-title":"HP:0012587","author":[{"family":"gross hematuria"},{"family":"bloody urine"},{"family":"Hematuria that is visible upon inspection of the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012587","type":"entry-dictionary","title":"Macroscopic hematuria"},{"container-title":"HP:0012588","author":[{"family":"A form of nephrotic syndrome that does not respond to treatment with steroid medication."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012588","type":"entry-dictionary","title":"Steroid-resistant nephrotic syndrome"},{"container-title":"HP:0012589","author":[{"family":"A form of nephrotic syndrome that does not respond to any immunosuppresive treatment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012589","type":"entry-dictionary","title":"Multidrug-resistant nephrotic syndrome"},{"container-title":"HP:0012590","author":[{"family":"Ab abnormal amount of urine production."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012590","type":"entry-dictionary","title":"Abnormal urine output"},{"container-title":"HP:0012591","author":[{"family":"Abnormal urinary electrolyte concentration"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012591","type":"entry-dictionary","title":"Abnormal urinary electrolyte concentration"},{"container-title":"HP:0012592","author":[{"family":"Increased concentration of albumin in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012592","type":"entry-dictionary","title":"Albuminuria"},{"container-title":"HP:0012593","author":[{"family":"Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012593","type":"entry-dictionary","title":"Nephrotic range proteinuria"},{"container-title":"HP:0012594","author":[{"family":"high urine albumin levels"},{"family":"The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012594","type":"entry-dictionary","title":"Microalbuminuria"},{"container-title":"HP:0012595","author":[{"family":"Mildly increased levels of protein in the urine (150-500 mg per day in adults)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012595","type":"entry-dictionary","title":"Mild proteinuria"},{"container-title":"HP:0012596","author":[{"family":"Moderately increased levels of protein in the urine (500-1000 mg per day in adults)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012596","type":"entry-dictionary","title":"Moderate proteinuria"},{"container-title":"HP:0012597","author":[{"family":"severly high blood protein levels"},{"family":"Severely increased levels of protein in the urine (1000-3000 mg per day in adults)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012597","type":"entry-dictionary","title":"Heavy proteinuria"},{"container-title":"HP:0012598","author":[{"family":"An abnormal concentration of potassium(1+) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012598","type":"entry-dictionary","title":"Abnormal urine potassium concentration"},{"container-title":"HP:0012599","author":[{"family":"An abnormal phosphate concentration in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012599","type":"entry-dictionary","title":"Abnormal urine phosphate concentration"},{"container-title":"HP:0012600","author":[{"family":"An abnormal concentration of chloride in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012600","type":"entry-dictionary","title":"Abnormal urine chloride concentration"},{"container-title":"HP:0012601","author":[{"family":"low urine chloride levels"},{"family":"decreased urinary chloride"},{"family":"An decreased concentration of chloride in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012601","type":"entry-dictionary","title":"Hypochloriduria"},{"container-title":"HP:0012602","author":[{"family":"High urine chloride in the presence of hypochloridemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012602","type":"entry-dictionary","title":"Renal chloride wasting"},{"container-title":"HP:0012603","author":[{"family":"An abnormal concentration of sodium in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012603","type":"entry-dictionary","title":"Abnormal urine sodium concentration"},{"container-title":"HP:0012604","author":[{"family":"low urine sodium levels"},{"family":"An abnormally decreased sodium concentration in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012604","type":"entry-dictionary","title":"Hyponatriuria"},{"container-title":"HP:0012605","author":[{"family":"increased urinary sodium"},{"family":"An increased concentration of sodium(1+) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012605","type":"entry-dictionary","title":"Hypernatriuria"},{"container-title":"HP:0012606","author":[{"family":"An abnormally increased sodium concentration in the urine in the presence of hyponatremia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012606","type":"entry-dictionary","title":"Renal sodium wasting"},{"container-title":"HP:0012607","author":[{"family":"abnormal urine magnesium concentration"},{"family":"An abnormal concentration of magnesium the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012607","type":"entry-dictionary","title":"Abnormal urine magnesium concentration"},{"container-title":"HP:0012608","author":[{"family":"An increased concentration of magnesium the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012608","type":"entry-dictionary","title":"Hypermagnesiuria"},{"container-title":"HP:0012609","author":[{"family":"low urine magnesium levels"},{"family":"decreased urine magnesium"},{"family":"An decreased concentration of magnesium the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012609","type":"entry-dictionary","title":"Hypomagnesiuria"},{"container-title":"HP:0012610","author":[{"family":"Abnormal concentration of urate in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012610","type":"entry-dictionary","title":"Abnormality of urinary uric acid concentration"},{"container-title":"HP:0012611","author":[{"family":"Elevanted concentration of urate in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012611","type":"entry-dictionary","title":"Increased urinary urate"},{"container-title":"HP:0012612","author":[{"family":"Abnormal concentration of sulfate in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012612","type":"entry-dictionary","title":"Abnormal urinary sulfate concentration"},{"container-title":"HP:0012613","author":[{"family":"Elevated concentration of SO4(2-), i.e., sulfate, in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012613","type":"entry-dictionary","title":"Increased urinary sulfate"},{"container-title":"HP:0012614","author":[{"family":"An anomalous finding in the examination of the urine for cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012614","type":"entry-dictionary","title":"Abnormal urine cytology"},{"container-title":"HP:0012615","author":[{"family":"urinary casts"},{"family":"The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012615","type":"entry-dictionary","title":"Cylindruria"},{"container-title":"HP:0012616","author":[{"family":"white blood cell casts"},{"family":"Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012616","type":"entry-dictionary","title":"Leukocyte cylindruria"},{"container-title":"HP:0012617","author":[{"family":"red blood cell casts"},{"family":"Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012617","type":"entry-dictionary","title":"Erythrocyte cylindruria"},{"container-title":"HP:0012618","author":[{"family":"A cyst located along the allantois canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012618","type":"entry-dictionary","title":"Urachal cyst"},{"container-title":"HP:0012619","author":[{"family":"multiple pouches in bladder wall"},{"family":"Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012619","type":"entry-dictionary","title":"Multiple bladder diverticula"},{"container-title":"HP:0012620","author":[{"family":"A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012620","type":"entry-dictionary","title":"Cloacal abnormality"},{"container-title":"HP:0012621","author":[{"family":"cloacogenic bladder"},{"family":"Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012621","type":"entry-dictionary","title":"Persistent cloaca"},{"container-title":"HP:0012622","author":[{"family":"chronic kidney disease"},{"family":"renal insufficiency, progressive"},{"family":"progressive renal insufficiency"},{"family":"loss of renal function"},{"family":"progressive renal failure"},{"family":"renal failure, progressive"},{"family":"Functional anomaly of the kidney persisting for at least three months."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012622","type":"entry-dictionary","title":"Chronic kidney disease"},{"container-title":"HP:0012623","author":[{"family":"A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL\/min\/1.73 m2)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012623","type":"entry-dictionary","title":"Stage 1 chronic kidney disease"},{"container-title":"HP:0012624","author":[{"family":"A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL\/min\/1.73 m2)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012624","type":"entry-dictionary","title":"Stage 2 chronic kidney disease"},{"container-title":"HP:0012625","author":[{"family":"A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL\/min\/1.73 m2)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012625","type":"entry-dictionary","title":"Stage 3 chronic kidney disease"},{"container-title":"HP:0012626","author":[{"family":"stage 4 chronic kidney disease"},{"family":"A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL\/min\/1.73 m2)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012626","type":"entry-dictionary","title":"Stage 4 chronic kidney disease"},{"container-title":"HP:0012627","author":[{"family":"Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012627","type":"entry-dictionary","title":"Pseudoexfoliation"},{"container-title":"HP:0012628","author":[{"family":"zonule of zinn abnormality"},{"family":"ciliary zonule abnormality"},{"family":"abnormality of zinn's membrane"},{"family":"abnormality of the suspensory ligament of lens"},{"family":"An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012628","type":"entry-dictionary","title":"Abnormal suspensory ligament of lens morphology"},{"container-title":"HP:0012629","author":[{"family":"trembling eye lens"},{"family":"phacodonesis"},{"family":"Tremulousness (trembling) of the lens of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012629","type":"entry-dictionary","title":"Phakodonesis"},{"container-title":"HP:0012630","author":[{"family":"abnormality of the trabecular meshwork"},{"family":"An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012630","type":"entry-dictionary","title":"Abnormal trabecular meshwork morphology"},{"container-title":"HP:0012631","author":[{"family":"Accumulation of abnormal amounts of pigment within the trabecular meshwork."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012631","type":"entry-dictionary","title":"Pigment deposition in the trabecular meshwork"},{"container-title":"HP:0012632","author":[{"family":"abnormal eye pressure"},{"family":"abnormal intraocular pressure"},{"family":"An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012632","type":"entry-dictionary","title":"Abnormal intraocular pressure"},{"container-title":"HP:0012633","author":[{"family":"A difference in the amount of intraocular pressure in the right and left eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012633","type":"entry-dictionary","title":"Asymmetry of intraocular pressure"},{"container-title":"HP:0012634","author":[{"family":"Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012634","type":"entry-dictionary","title":"Iris pigment dispersion"},{"container-title":"HP:0012635","author":[{"family":"Reduction in the amount of blood flow to the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012635","type":"entry-dictionary","title":"Iris hypoperfusion"},{"container-title":"HP:0012636","author":[{"family":"Blockage of the retinal vein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012636","type":"entry-dictionary","title":"Retinal vein occlusion"},{"container-title":"HP:0012637","author":[{"family":"kidney calcium wasting"},{"family":"High urine calcium in the presence of hypocalcemia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012637","type":"entry-dictionary","title":"Renal calcium wasting"},{"container-title":"HP:0012638","author":[{"family":"A functional anomaly of the nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012638","type":"entry-dictionary","title":"Abnormality of nervous system physiology"},{"container-title":"HP:0012639","author":[{"family":"abnormal nervous system morphology"},{"family":"abnormal shape of nervous system"},{"family":"A structural anomaly of the nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012639","type":"entry-dictionary","title":"Abnormality of nervous system morphology"},{"container-title":"HP:0012640","author":[{"family":"A deviation from the norm of the intracranial pressure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012640","type":"entry-dictionary","title":"Abnormality of intracranial pressure"},{"container-title":"HP:0012641","author":[{"family":"intracranial hypotension"},{"family":"A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012641","type":"entry-dictionary","title":"Decreased intracranial pressure"},{"container-title":"HP:0012642","author":[{"family":"Lack of development of the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012642","type":"entry-dictionary","title":"Cerebellar agenesis"},{"container-title":"HP:0012643","author":[{"family":"Decreased amount of pigmentation in the fovea centralis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012643","type":"entry-dictionary","title":"Foveal hypopigmentation"},{"container-title":"HP:0012644","author":[{"family":"An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012644","type":"entry-dictionary","title":"Increased caudate lactate level"},{"container-title":"HP:0012645","author":[{"family":"enlarged peripheral nerves"},{"family":"Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012645","type":"entry-dictionary","title":"Enlarged peripheral nerve"},{"container-title":"HP:0012646","author":[{"family":"retractile testicle"},{"family":"A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012646","type":"entry-dictionary","title":"Retractile testis"},{"container-title":"HP:0012647","author":[{"family":"abnormal inflammatory response"},{"family":"Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012647","type":"entry-dictionary","title":"Abnormal inflammatory response"},{"container-title":"HP:0012648","author":[{"family":"decreased inflammatory response"},{"family":"An abnormal reduction in the inflammatory response to injury or infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012648","type":"entry-dictionary","title":"Decreased inflammatory response"},{"container-title":"HP:0012649","author":[{"family":"A abnormal increase in the inflammatory response to injury or infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012649","type":"entry-dictionary","title":"Increased inflammatory response"},{"container-title":"HP:0012650","author":[{"family":"An excessive number of small gyri (convolutions) on the surface of the brain in the region surrounding the sylvian fissures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012650","type":"entry-dictionary","title":"Perisylvian polymicrogyria"},{"container-title":"HP:0012651","author":[{"family":"Ay severe form of gait ataxia such that an affected person cannot walk at all."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012651","type":"entry-dictionary","title":"Abasia"},{"container-title":"HP:0012652","author":[{"family":"exercise-induced asthma"},{"family":"Asthma attacks following exercise."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012652","type":"entry-dictionary","title":"Exercise-induced asthma"},{"container-title":"HP:0012653","author":[{"family":"acute severe asthma"},{"family":"Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012653","type":"entry-dictionary","title":"Status asthmaticus"},{"container-title":"HP:0012654","author":[{"family":"Abnormal concentration of dopamine in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012654","type":"entry-dictionary","title":"Abnormal CSF dopamine level"},{"container-title":"HP:0012655","author":[{"family":"Increased concentration of dopamine in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012655","type":"entry-dictionary","title":"Elevated CSF dopamine level"},{"container-title":"HP:0012656","author":[{"family":"Decreased concentration of dopamine in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012656","type":"entry-dictionary","title":"Reduced CSF dopamine level"},{"container-title":"HP:0012657","author":[{"family":"A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012657","type":"entry-dictionary","title":"Abnormal brain positron emission tomography"},{"container-title":"HP:0012658","author":[{"family":"An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012658","type":"entry-dictionary","title":"Abnormal brain FDG positron emission tomography"},{"container-title":"HP:0012659","author":[{"family":"Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012659","type":"entry-dictionary","title":"Prefrontal hypometabolism in FDG PET"},{"container-title":"HP:0012660","author":[{"family":"Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012660","type":"entry-dictionary","title":"Thalamic hypometabolism in FDG PET"},{"container-title":"HP:0012661","author":[{"family":"Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012661","type":"entry-dictionary","title":"Hypothalamic hypometabolism in FDG PET"},{"container-title":"HP:0012662","author":[{"family":"Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012662","type":"entry-dictionary","title":"Parietal hypometabolism in FDG PET"},{"container-title":"HP:0012663","author":[{"family":"A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 55 percent, and a mild reduction is defined as 45-54 percent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012663","type":"entry-dictionary","title":"Mildly reduced ejection fraction"},{"container-title":"HP:0012664","author":[{"family":"A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012664","type":"entry-dictionary","title":"Reduced ejection fraction"},{"container-title":"HP:0012665","author":[{"family":"A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 55 percent, and a moderate reduction is defined as 30-44 percent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012665","type":"entry-dictionary","title":"Moderately reduced ejection fraction"},{"container-title":"HP:0012666","author":[{"family":"A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 55 percent, and a moderate reduction is defined as less than 30 percent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012666","type":"entry-dictionary","title":"Severely reduced ejection fraction"},{"container-title":"HP:0012667","author":[{"family":"An abnormal motion of a segment of the left ventricle during the cardiac cycle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012667","type":"entry-dictionary","title":"Regional left ventricular wall motion abnormality"},{"container-title":"HP:0012668","author":[{"family":"situational syncope"},{"family":"reflex syncope"},{"family":"neurocardiogenic syncope"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012668","type":"entry-dictionary","title":"Vasovagal syncope"},{"container-title":"HP:0012669","author":[{"family":"An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012669","type":"entry-dictionary","title":"Carotid sinus syncope"},{"container-title":"HP:0012670","author":[{"family":"Syncope following a quick change in position from lying down to standing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012670","type":"entry-dictionary","title":"Orthostatic syncope"},{"container-title":"HP:0012671","author":[{"family":"aboulia"},{"family":"Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012671","type":"entry-dictionary","title":"Abulia"},{"container-title":"HP:0012672","author":[{"family":"Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012672","type":"entry-dictionary","title":"Akinetic mutism"},{"container-title":"HP:0012673","author":[{"family":"absent upper vagina"},{"family":"A failure to develop of the upper vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012673","type":"entry-dictionary","title":"Aplasia of the upper vagina"},{"container-title":"HP:0012674","author":[{"family":"agenesis of the lower vagina"},{"family":"absent lower vagina"},{"family":"A failure to develop of the lower part of the vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012674","type":"entry-dictionary","title":"Aplasia of the lower vagina"},{"container-title":"HP:0012675","author":[{"family":"iron accumulation in brain"},{"family":"brain iron deposition"},{"family":"An abnormal build up of iron (Fe) in brain tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012675","type":"entry-dictionary","title":"Iron accumulation in brain"},{"container-title":"HP:0012676","author":[{"family":"brain copper accumulation"},{"family":"copper accumulation in brain"},{"family":"An anomalous build up of copper (Cu) in the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012676","type":"entry-dictionary","title":"Copper accumulation in brain"},{"container-title":"HP:0012677","author":[{"family":"An abnormal build up of iron (Fe) in the globus pallidus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012677","type":"entry-dictionary","title":"Iron accumulation in globus pallidus"},{"container-title":"HP:0012678","author":[{"family":"An anomalous build up of iron (Fe) in the substantia nigra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012678","type":"entry-dictionary","title":"Iron accumulation in substantia nigra"},{"container-title":"HP:0012679","author":[{"family":"An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012679","type":"entry-dictionary","title":"Widened interpedicular distance"},{"container-title":"HP:0012680","author":[{"family":"An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012680","type":"entry-dictionary","title":"Abnormality of the pineal gland"},{"container-title":"HP:0012681","author":[{"family":"A structural abnormality of the pineal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012681","type":"entry-dictionary","title":"Abnormality of pineal morphology"},{"container-title":"HP:0012682","author":[{"family":"Accumulation of calcium salts in the pineal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012682","type":"entry-dictionary","title":"Pineal gland calcification"},{"container-title":"HP:0012683","author":[{"family":"A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012683","type":"entry-dictionary","title":"Pineal cyst"},{"container-title":"HP:0012684","author":[{"family":"An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012684","type":"entry-dictionary","title":"Abnormal pineal volume"},{"container-title":"HP:0012685","author":[{"family":"An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012685","type":"entry-dictionary","title":"Decreased pineal volume"},{"container-title":"HP:0012686","author":[{"family":"An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012686","type":"entry-dictionary","title":"Increased pineal volume"},{"container-title":"HP:0012687","author":[{"family":"Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012687","type":"entry-dictionary","title":"Agenesis of pineal gland"},{"container-title":"HP:0012688","author":[{"family":"A functional abnormality of the pineal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012688","type":"entry-dictionary","title":"Abnormality of pineal physiology"},{"container-title":"HP:0012689","author":[{"family":"An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012689","type":"entry-dictionary","title":"Abnormal pineal melatonin secretion"},{"container-title":"HP:0012690","author":[{"family":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012690","type":"entry-dictionary","title":"T2 hypointense thalamus"},{"container-title":"HP:0012691","author":[{"family":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012691","type":"entry-dictionary","title":"Focal T2 hypointense thalamic lesion"},{"container-title":"HP:0012692","author":[{"family":"A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012692","type":"entry-dictionary","title":"Focal T2 hyperintense thalamic lesion"},{"container-title":"HP:0012693","author":[{"family":"Deviation from the normal range of size of the thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012693","type":"entry-dictionary","title":"Abnormal thalamic size"},{"container-title":"HP:0012694","author":[{"family":"An increase in the quantity of space occupied by the thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012694","type":"entry-dictionary","title":"Enlarged thalamic volume"},{"container-title":"HP:0012695","author":[{"family":"A reduction in the quantity of space occupied by the thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012695","type":"entry-dictionary","title":"Decreased thalamic volume"},{"container-title":"HP:0012696","author":[{"family":"A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012696","type":"entry-dictionary","title":"Abnormal thalamic MRI signal intensity"},{"container-title":"HP:0012697","author":[{"family":"Decreased size of the basal ganglia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012697","type":"entry-dictionary","title":"Small basal ganglia"},{"container-title":"HP:0012698","author":[{"family":"Focal proliferation of glial cells in the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012698","type":"entry-dictionary","title":"Cerebellar gliosis"},{"container-title":"HP:0012699","author":[{"family":"anomaly of shaft of long bone of lower limb"},{"family":"A structural abnormality of a diaphysis of the leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012699","type":"entry-dictionary","title":"Anomaly of lower limb diaphyses"},{"container-title":"HP:0012700","author":[{"family":"A functional anomaly of the large intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012700","type":"entry-dictionary","title":"Abnormal large intestine physiology"},{"container-title":"HP:0012701","author":[{"family":"fecal urgency"},{"family":"A sudden, irresistible need to have a bowel movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012701","type":"entry-dictionary","title":"Bowel urgency"},{"container-title":"HP:0012702","author":[{"family":"A repeated, painful urge to defecate without excreting stool."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012702","type":"entry-dictionary","title":"Tenesmus"},{"container-title":"HP:0012703","author":[{"family":"Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012703","type":"entry-dictionary","title":"Abnormality of the subarachnoid space"},{"container-title":"HP:0012704","author":[{"family":"widened subarachnoid spaces"},{"family":"enlarged subarachnoid space"},{"family":"An increase in size of the anatomic space between the arachnoid membrane and pia mater."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012704","type":"entry-dictionary","title":"Widened subarachnoid space"},{"container-title":"HP:0012705","author":[{"family":"An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012705","type":"entry-dictionary","title":"Abnormal metabolic brain imaging by MRS"},{"container-title":"HP:0012706","author":[{"family":"An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012706","type":"entry-dictionary","title":"Elevated brain choline level by MRS"},{"container-title":"HP:0012707","author":[{"family":"An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012707","type":"entry-dictionary","title":"Elevated brain lactate level by MRS"},{"container-title":"HP:0012708","author":[{"family":"reduced brain n-acetyl aspartate level by magnetic resonance spectroscopy"},{"family":"A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012708","type":"entry-dictionary","title":"Reduced brain N-acetyl aspartate level by MRS"},{"container-title":"HP:0012709","author":[{"family":"A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012709","type":"entry-dictionary","title":"Abnormal brain choline\/creatine ratio by MRS"},{"container-title":"HP:0012710","author":[{"family":"ingrown nail"},{"family":"Excessive growth of a nail laterally into the nail fold."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012710","type":"entry-dictionary","title":"Ingrown nail"},{"container-title":"HP:0012711","author":[{"family":"delayed maturation of the end part of the verebral bone"},{"family":"A delay in the process of formation and maturation of the epiphysis of one or more vertebrae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012711","type":"entry-dictionary","title":"Delayed ossification of vertebral epiphysis"},{"container-title":"HP:0012712","author":[{"family":"mild hearing impairment"},{"family":"The presence of a mild form of hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012712","type":"entry-dictionary","title":"Mild hearing impairment"},{"container-title":"HP:0012713","author":[{"family":"moderate hearing impairment"},{"family":"The presence of a moderate form of hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012713","type":"entry-dictionary","title":"Moderate hearing impairment"},{"container-title":"HP:0012714","author":[{"family":"severe deafness"},{"family":"severe hearing impairment"},{"family":"severe hearing loss"},{"family":"A severe form of hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012714","type":"entry-dictionary","title":"Severe hearing impairment"},{"container-title":"HP:0012715","author":[{"family":"profound hearing impairment"},{"family":"A profound (essentially complete) form of hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012715","type":"entry-dictionary","title":"Profound hearing impairment"},{"container-title":"HP:0012716","author":[{"family":"conductive hearing loss, moderate"},{"family":"The presence of a moderate form of conductive hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012716","type":"entry-dictionary","title":"Moderate conductive hearing impairment"},{"container-title":"HP:0012717","author":[{"family":"conductive hearing loss, severe"},{"family":"A severe form of conductive hearing impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012717","type":"entry-dictionary","title":"Severe conductive hearing impairment"},{"container-title":"HP:0012718","author":[{"family":"abnormal shape of the digestive system"},{"family":"morphological anomaly of the digestive system"},{"family":"Abnormal structure of the gastrointestinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012718","type":"entry-dictionary","title":"Morphological abnormality of the gastrointestinal tract"},{"container-title":"HP:0012719","author":[{"family":"Abnormal functionality of the gastrointestinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012719","type":"entry-dictionary","title":"Functional abnormality of the gastrointestinal tract"},{"container-title":"HP:0012720","author":[{"family":"nasal neoplasm"},{"family":"nasal tumor"},{"family":"tumor of the nose"},{"family":"neoplasia of the nose"},{"family":"nose cancer"},{"family":"Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012720","type":"entry-dictionary","title":"Neoplasm of the nose"},{"container-title":"HP:0012721","author":[{"family":"venous malformations"},{"family":"A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012721","type":"entry-dictionary","title":"Venous malformation"},{"container-title":"HP:0012722","author":[{"family":"Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012722","type":"entry-dictionary","title":"Heart block"},{"container-title":"HP:0012723","author":[{"family":"Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012723","type":"entry-dictionary","title":"Sinoatrial block"},{"container-title":"HP:0012724","author":[{"family":"cellulitis of upper eyelid"},{"family":"fullness of upper eyelid"},{"family":"swelling of upper eyelid"},{"family":"puffiness of upper eyelid"},{"family":"Edema in the region of the upper eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012724","type":"entry-dictionary","title":"Upper eyelid edema"},{"container-title":"HP:0012725","author":[{"family":"cutaneous syndactyly of digits"},{"family":"syndactyly, cutaneous"},{"family":"A soft tissue continuity in the A\/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A\/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012725","type":"entry-dictionary","title":"Cutaneous syndactyly"},{"container-title":"HP:0012726","author":[{"family":"recurrent low potassium"},{"family":"An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012726","type":"entry-dictionary","title":"Episodic hypokalemia"},{"container-title":"HP:0012727","author":[{"family":"dilatation of the thoracic aorta"},{"family":"An abnormal localized widening (dilatation) of the thoracic aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012727","type":"entry-dictionary","title":"Thoracic aortic aneurysm"},{"container-title":"HP:0012728","author":[{"family":"dilatation of the fusiform descending thoracic aorta"},{"family":"A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012728","type":"entry-dictionary","title":"Fusiform descending thoracic aortic aneurysm"},{"container-title":"HP:0012729","author":[{"family":"dilatation of the saccular descending thoracic aorta"},{"family":"An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012729","type":"entry-dictionary","title":"Saccular descending thoracic aortic aneurysm"},{"container-title":"HP:0012730","author":[{"family":"absence of tongue"},{"family":"missing tongue"},{"family":"failure of development of tongue"},{"family":"Absence of the tongue owing to a developmental abnormality."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012730","type":"entry-dictionary","title":"Aglossia"},{"container-title":"HP:0012731","author":[{"family":"Abnormal anatomic location of the anterior pituitary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012731","type":"entry-dictionary","title":"Ectopic anterior pituitary gland"},{"container-title":"HP:0012732","author":[{"family":"An abnormality of the anus or rectum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012732","type":"entry-dictionary","title":"Anorectal anomaly"},{"container-title":"HP:0012733","author":[{"family":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012733","type":"entry-dictionary","title":"Macule"},{"container-title":"HP:0012734","author":[{"family":"ketotic low blood sugar"},{"family":"Low blood glucose is accompanied by elevated levels of ketone bodies in the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012734","type":"entry-dictionary","title":"Ketotic hypoglycemia"},{"container-title":"HP:0012735","author":[{"family":"coughing"},{"family":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012735","type":"entry-dictionary","title":"Cough"},{"container-title":"HP:0012736","author":[{"family":"psychomotor retardation, profound"},{"family":"A profound delay in the achievement of motor or mental milestones in the domains of development of a child."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012736","type":"entry-dictionary","title":"Profound global developmental delay"},{"container-title":"HP:0012737","author":[{"family":"A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012737","type":"entry-dictionary","title":"Small intestinal polyp"},{"container-title":"HP:0012738","author":[{"family":"absent canines"},{"family":"absence of canine"},{"family":"failure of development of canine"},{"family":"absence of eye tooth"},{"family":"missing eye tooth"},{"family":"missing canine"},{"family":"failure of development of eye tooth"},{"family":"Agenesis of canine tooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012738","type":"entry-dictionary","title":"Agenesis of canine"},{"container-title":"HP:0012739","author":[{"family":"undeveloped small intestine"},{"family":"small bowel agenesis"},{"family":"Failure to develop of the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012739","type":"entry-dictionary","title":"Agenesis of the small intestine"},{"container-title":"HP:0012740","author":[{"family":"A tumor of the skin or mucous membrane with finger-like projections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012740","type":"entry-dictionary","title":"Papilloma"},{"container-title":"HP:0012741","author":[{"family":"cryptorchidism, unilateral"},{"family":"Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the testis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012741","type":"entry-dictionary","title":"Unilateral cryptorchidism"},{"container-title":"HP:0012742","author":[{"family":"thin fingernail"},{"family":"Nail that appears thin when viewed on end."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012742","type":"entry-dictionary","title":"Thin fingernail"},{"container-title":"HP:0012743","author":[{"family":"abdominal obesity"},{"family":"central obesity"},{"family":"Excessive fat around the stomach and abdomen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012743","type":"entry-dictionary","title":"Abdominal obesity"},{"container-title":"HP:0012744","author":[{"family":"absent femur"},{"family":"absent thighbone"},{"family":"aplasia of the femur"},{"family":"Failure of the femur to develop."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012744","type":"entry-dictionary","title":"Femoral aplasia"},{"container-title":"HP:0012745","author":[{"family":"short palpebral fissures"},{"family":"decreased height of palpebral fissure"},{"family":"short opening between the eyelids"},{"family":"Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012745","type":"entry-dictionary","title":"Short palpebral fissure"},{"container-title":"HP:0012746","author":[{"family":"thin toenails"},{"family":"Toenail that appears thin when viewed on end."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012746","type":"entry-dictionary","title":"Thin toenail"},{"container-title":"HP:0012747","author":[{"family":"A deviation from normal signal on magnetic resonance imaging (MIR) of the brainstem."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012747","type":"entry-dictionary","title":"Abnormal brainstem MRI signal intensity"},{"container-title":"HP:0012748","author":[{"family":"A lighter than expected T2 signal on magnetic resonance imaging (MIR) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012748","type":"entry-dictionary","title":"Focal T2 hyperintense brainstem lesion"},{"container-title":"HP:0012749","author":[{"family":"A darker than expected T2 signal on magnetic resonance imaging (MIR) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012749","type":"entry-dictionary","title":"Focal T2 hypointense brainstem lesion"},{"container-title":"HP:0012750","author":[{"family":"A darker than expected T2 signal on magnetic resonance imaging (MIR) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012750","type":"entry-dictionary","title":"T2 hypointense brainstem"},{"container-title":"HP:0012751","author":[{"family":"A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012751","type":"entry-dictionary","title":"Abnormal basal ganglia MRI signal intensity"},{"container-title":"HP:0012752","author":[{"family":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012752","type":"entry-dictionary","title":"Focal T2 hypointense basal ganglia lesion"},{"container-title":"HP:0012753","author":[{"family":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012753","type":"entry-dictionary","title":"T2 hypointense basal ganglia"},{"container-title":"HP:0012754","author":[{"family":"Increased amount of myelin in the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012754","type":"entry-dictionary","title":"CNS hypermyelination"},{"container-title":"HP:0012755","author":[{"family":"Abnormal increase in size of the brainstem."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012755","type":"entry-dictionary","title":"Enlarged brainstem"},{"container-title":"HP:0012756","author":[{"family":"An increased polymorphonuclear cell count in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012756","type":"entry-dictionary","title":"CSF polymorphonuclear pleocytosis"},{"container-title":"HP:0012757","author":[{"family":"abnormal neuron shape"},{"family":"abnormal neuronal morphology"},{"family":"A structural anomaly of a neuron."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012757","type":"entry-dictionary","title":"Abnormal neuron morphology"},{"container-title":"HP:0012758","author":[{"family":"Neurodevelopmental delay"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012758","type":"entry-dictionary","title":"Neurodevelopmental delay"},{"container-title":"HP:0012759","author":[{"family":"A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012759","type":"entry-dictionary","title":"Neurodevelopmental abnormality"},{"container-title":"HP:0012760","author":[{"family":"A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012760","type":"entry-dictionary","title":"Impaired social reciprocity"},{"container-title":"HP:0012761","author":[{"family":"failure of development of mastoid"},{"family":"absent mastoids"},{"family":"mastoid agenesis"},{"family":"A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012761","type":"entry-dictionary","title":"Absent mastoid"},{"container-title":"HP:0012762","author":[{"family":"The presence of atrophy (wasting) of the cerebral white matter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012762","type":"entry-dictionary","title":"Cerebral white matter atrophy"},{"container-title":"HP:0012763","author":[{"family":"A sudden attack of dyspnea that occurs while the affected person is at rest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012763","type":"entry-dictionary","title":"Paroxysmal dyspnea"},{"container-title":"HP:0012764","author":[{"family":"A sensation of breathlessness in the recumbent position, relieved by sitting or standing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012764","type":"entry-dictionary","title":"Orthopnea"},{"container-title":"HP:0012765","author":[{"family":"An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012765","type":"entry-dictionary","title":"Widened cerebellar subarachnoid space"},{"container-title":"HP:0012766","author":[{"family":"An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012766","type":"entry-dictionary","title":"Widened cerebral subarachnoid space"},{"container-title":"HP:0012767","author":[{"family":"A deviation from normal size of the placenta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012767","type":"entry-dictionary","title":"Abnormal placental size"},{"container-title":"HP:0012768","author":[{"family":"asphyxia neonatorum"},{"family":"Respiratory failure in the newborn."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012768","type":"entry-dictionary","title":"Neonatal asphyxia"},{"container-title":"HP:0012769","author":[{"family":"abnormal arm span"},{"family":"A deviation from normal of the length of the arm span (length from one end of an individual's arms (measured at the fingertips) to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012769","type":"entry-dictionary","title":"Abnormal arm span"},{"container-title":"HP:0012770","author":[{"family":"reduced arm span"},{"family":"Decreased length of the arm span (length from one end of an individual's arms (measured at the fingertips) to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012770","type":"entry-dictionary","title":"Reduced arm span"},{"container-title":"HP:0012771","author":[{"family":"increased arm span"},{"family":"Increased length of the arm span (length from one end of an individual's arms (measured at the fingertips) to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012771","type":"entry-dictionary","title":"Increased arm span"},{"container-title":"HP:0012772","author":[{"family":"A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012772","type":"entry-dictionary","title":"Abnormal upper to lower segment ratio"},{"container-title":"HP:0012773","author":[{"family":"Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012773","type":"entry-dictionary","title":"Reduced upper to lower segment ratio"},{"container-title":"HP:0012774","author":[{"family":"Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012774","type":"entry-dictionary","title":"Increased upper to lower segment ratio"},{"container-title":"HP:0012775","author":[{"family":"A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012775","type":"entry-dictionary","title":"Stellate iris"},{"container-title":"HP:0012776","author":[{"family":"A structural anomaly of the ciliary body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012776","type":"entry-dictionary","title":"Abnormality of the ciliary body"},{"container-title":"HP:0012777","author":[{"family":"A tumor (abnormal growth of tissue) of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012777","type":"entry-dictionary","title":"Retinal neoplasm"},{"container-title":"HP:0012778","author":[{"family":"A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012778","type":"entry-dictionary","title":"Retinal astrocytic hamartoma"},{"container-title":"HP:0012779","author":[{"family":"Hearing loss that occurs acutely and resolves completely."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012779","type":"entry-dictionary","title":"Transient hearing impairment"},{"container-title":"HP:0012780","author":[{"family":"ear tumor"},{"family":"A tumor (abnormal growth of tissue) of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012780","type":"entry-dictionary","title":"Neoplasm of the ear"},{"container-title":"HP:0012781","author":[{"family":"A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012781","type":"entry-dictionary","title":"Mid-frequency hearing loss"},{"container-title":"HP:0012782","author":[{"family":"A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012782","type":"entry-dictionary","title":"Perilobar nephrogenic rest"},{"container-title":"HP:0012783","author":[{"family":"A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012783","type":"entry-dictionary","title":"Intralobar nephrogenic rest"},{"container-title":"HP:0012784","author":[{"family":"Inflammation of the connective and adipose tissues surrounding the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012784","type":"entry-dictionary","title":"Perinephritis"},{"container-title":"HP:0012785","author":[{"family":"flexion deformity of finger"},{"family":"Chronic loss of joint motion in a finger due to structural changes in non-bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012785","type":"entry-dictionary","title":"Flexion contracture of finger"},{"container-title":"HP:0012786","author":[{"family":"recurrent bladder infections"},{"family":"Repeated infections of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012786","type":"entry-dictionary","title":"Recurrent cystitis"},{"container-title":"HP:0012787","author":[{"family":"Repeated episodes of pyelonephritis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012787","type":"entry-dictionary","title":"Recurrent pyelonephritis"},{"container-title":"HP:0012788","author":[{"family":"reticulate pigmentation of oral mucous membrane"},{"family":"mottled pigmentation of oral mucosa"},{"family":"A net-like pattern of increased pigmentation of the oral cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012788","type":"entry-dictionary","title":"Reticulate pigmentation of oral mucosa"},{"container-title":"HP:0012789","author":[{"family":"small heel bone"},{"family":"underdeveloped heel bone"},{"family":"hypoplastic calcaneus"},{"family":"Underdevelopment of the heel bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012789","type":"entry-dictionary","title":"Hypoplasia of the calcaneus"},{"container-title":"HP:0012790","author":[{"family":"abnormal intramembranous bone ossification"},{"family":"An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, perietal, occipital, and temporal bones, and the clavicles) are formed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012790","type":"entry-dictionary","title":"Abnormal intramembranous ossification"},{"container-title":"HP:0012791","author":[{"family":"abnormal maturation of long bone in upper arm"},{"family":"An anomaly of the process of formation of bone in the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012791","type":"entry-dictionary","title":"Abnormal humeral ossification"},{"container-title":"HP:0012792","author":[{"family":"A lack of bone mineralization of one or more body of thoracic vertebra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012792","type":"entry-dictionary","title":"Absent ossification of thoracic vertebral bodies"},{"container-title":"HP:0012793","author":[{"family":"kinked brain stem"},{"family":"A kinked appearance of the brainstem, i.e., an exaggerated flexure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012793","type":"entry-dictionary","title":"Kinked brainstem"},{"container-title":"HP:0012794","author":[{"family":"periventricular cerebral white matter hypodensities"},{"family":"Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012794","type":"entry-dictionary","title":"Periventricular white matter hypodensities"},{"container-title":"HP:0012795","author":[{"family":"A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012795","type":"entry-dictionary","title":"Abnormality of the optic disc"},{"container-title":"HP:0012796","author":[{"family":"elevated cup to disc ratio"},{"family":"increased cup disc ratio"},{"family":"An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefoy may indicate a decrease in the quantity of healthy neuroretinal cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012796","type":"entry-dictionary","title":"Increased cup-to-disc ratio"},{"container-title":"HP:0012797","author":[{"family":"lymphatic vessel tumor"},{"family":"A benign or malignant neoplasm arising from the lymphatic vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012797","type":"entry-dictionary","title":"Lymphatic vessel neoplasm"},{"container-title":"HP:0012798","author":[{"family":"lymphangioleiomyomatosis"},{"family":"pulmonary myomatosis"},{"family":"Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012798","type":"entry-dictionary","title":"Pulmonary lymphangiomyomatosis"},{"container-title":"HP:0012799","author":[{"family":"paralysis of one side of the face"},{"family":"unilateral facial paralysis"},{"family":"unilateral facial weakness"},{"family":"unilateral facial muscle weakness"},{"family":"unilateral facial muscle paralysis"},{"family":"weakness of one side of the face"},{"family":"One-sided weakness of the muscles of facial expression and eye closure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012799","type":"entry-dictionary","title":"Unilateral facial palsy"},{"container-title":"HP:0012800","author":[{"family":"supernumary cranial suture"},{"family":"extra fontanelle"},{"family":"extra cranial suture"},{"family":"supernumary fontanelle"},{"family":"accessory fontanelle"},{"family":"A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012800","type":"entry-dictionary","title":"Accessory cranial suture"},{"container-title":"HP:0012801","author":[{"family":"thin lower face"},{"family":"narrow lower jaw"},{"family":"narrow mandible"},{"family":"narrow lower face"},{"family":"thin lower jaw"},{"family":"narrow jaw"},{"family":"Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012801","type":"entry-dictionary","title":"Narrow jaw"},{"container-title":"HP:0012802","author":[{"family":"broad jaw"},{"family":"broad lower face"},{"family":"broad mandible"},{"family":"wide jaw"},{"family":"wide mandible"},{"family":"Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012802","type":"entry-dictionary","title":"Broad jaw"},{"container-title":"HP:0012803","author":[{"family":"Inequality of refractive power of the two eyes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012803","type":"entry-dictionary","title":"Anisometropia"},{"container-title":"HP:0012804","author":[{"family":"corneal ulcer"},{"family":"Disruption of the epithelial layer of the cornea with involvement of the underlying stroma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012804","type":"entry-dictionary","title":"Corneal ulceration"},{"container-title":"HP:0012805","author":[{"family":"Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012805","type":"entry-dictionary","title":"Iris transillumination defect"},{"container-title":"HP:0012806","author":[{"family":"A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012806","type":"entry-dictionary","title":"Proboscis"},{"container-title":"HP:0012807","author":[{"family":"ala lower than columella"},{"family":"columella, high insertion"},{"family":"Insertion of the posterior columella superior to the nasal base."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012807","type":"entry-dictionary","title":"High insertion of columella"},{"container-title":"HP:0012808","author":[{"family":"deformity of nasal base"},{"family":"deformity of base of nose"},{"family":"malformation of base of nose"},{"family":"anomaly of base of nose"},{"family":"malformation of nasal base"},{"family":"abnormal nasal base"},{"family":"abnormality of base of nose"},{"family":"anomaly of nasal base"},{"family":"An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012808","type":"entry-dictionary","title":"Abnormal nasal base"},{"container-title":"HP:0012809","author":[{"family":"decreased width of nasal base"},{"family":"narrow base of nose"},{"family":"thin nasal base"},{"family":"narrow nasal base"},{"family":"decreased width of base of nose"},{"family":"thin base of nose"},{"family":"Decreased distance between the attachments of the alae nasi to the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012809","type":"entry-dictionary","title":"Narrow nasal base"},{"container-title":"HP:0012810","author":[{"family":"broad base of nose"},{"family":"increased width of nasal base"},{"family":"increased width of base of nose"},{"family":"broad nasal base"},{"family":"wide nasal base"},{"family":"wide base of nose"},{"family":"Increased distance between the attachments of the alae nasi to the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012810","type":"entry-dictionary","title":"Wide nasal base"},{"container-title":"HP:0012811","author":[{"family":"increased width of nasal dorsum"},{"family":"wide nasal dorsum"},{"family":"increased width of dorsum of nose"},{"family":"nasal ridge, wide"},{"family":"increased width of nasal ridge"},{"family":"wide dorsum of nose"},{"family":"broad dorsum of nose"},{"family":"wide nasal ridge"},{"family":"broad nasal dorsum"},{"family":"broad nasal ridge"},{"family":"Increased width of the nasal ridge."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012811","type":"entry-dictionary","title":"Wide nasal ridge"},{"container-title":"HP:0012812","author":[{"family":"paranasal fullness"},{"family":"thick tissue around the nose"},{"family":"fullness of tissue around the nose"},{"family":"laterally built up nose"},{"family":"hyperplasia of paranasal tissue"},{"family":"hypertrophy of paranasal tissue"},{"family":"thick paranasal tissue"},{"family":"Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012812","type":"entry-dictionary","title":"Fullness of paranasal tissue"},{"container-title":"HP:0012813","author":[{"family":"one underdeveloped breast"},{"family":"Underdevelopment of the breast on one side only."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012813","type":"entry-dictionary","title":"Unilateral breast hypoplasia"},{"container-title":"HP:0012814","author":[{"family":"two underdeveloped breasts"},{"family":"Underdevelopment of the breast on both sides."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012814","type":"entry-dictionary","title":"Bilateral breast hypoplasia"},{"container-title":"HP:0012815","author":[{"family":"underdeveloped female external genitalia"},{"family":"Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012815","type":"entry-dictionary","title":"Hypoplastic female external genitalia"},{"container-title":"HP:0012816","author":[{"family":"A predominantly right ventricular variant of isolated noncompaction cardiomyopathy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012816","type":"entry-dictionary","title":"Right ventricular noncompaction cardiomyopathy"},{"container-title":"HP:0012817","author":[{"family":"noncompaction of the ventricular myocardium"},{"family":"spongiform cardiomyopathy"},{"family":"A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012817","type":"entry-dictionary","title":"Noncompaction cardiomyopathy"},{"container-title":"HP:0012818","author":[{"family":"Noncompaction cardiomyopathy that affects both ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012818","type":"entry-dictionary","title":"Biventricular noncompaction cardiomyopathy"},{"container-title":"HP:0012819","author":[{"family":"Inflammation of the myocardium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012819","type":"entry-dictionary","title":"Myocarditis"},{"container-title":"HP:0012820","author":[{"family":"A loss of the ability to move the vocal fold on both sides."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012820","type":"entry-dictionary","title":"Bilateral vocal cord paralysis"},{"container-title":"HP:0012821","author":[{"family":"Decreased strength of the vocal fold on one side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012821","type":"entry-dictionary","title":"Unilateral vocal cord paresis"},{"container-title":"HP:0012822","author":[{"family":"Decreased strength of the vocal fold on both sides."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012822","type":"entry-dictionary","title":"Bilateral vocal cord paresis"},{"container-title":"HP:0012824","author":[{"family":"intensity"},{"family":"The intensity or degree of a manifestation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012824","type":"entry-dictionary","title":"Severity"},{"container-title":"HP:0012825","author":[{"family":"mild"},{"family":"Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012825","type":"entry-dictionary","title":"Mild"},{"container-title":"HP:0012826","author":[{"family":"Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012826","type":"entry-dictionary","title":"Moderate"},{"container-title":"HP:0012827","author":[{"family":"borderline"},{"family":"Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012827","type":"entry-dictionary","title":"Borderline"},{"container-title":"HP:0012828","author":[{"family":"severe"},{"family":"Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012828","type":"entry-dictionary","title":"Severe"},{"container-title":"HP:0012829","author":[{"family":"profound"},{"family":"Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012829","type":"entry-dictionary","title":"Profound"},{"container-title":"HP:0012830","author":[{"family":"The anatomical localization of the specified phenotypic abnormality."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012830","type":"entry-dictionary","title":"Position"},{"container-title":"HP:0012831","author":[{"family":"The localization with respect to the side of the body of the specified phenotypic abnormality."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012831","type":"entry-dictionary","title":"Laterality"},{"container-title":"HP:0012832","author":[{"family":"Being present on both sides of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012832","type":"entry-dictionary","title":"Bilateral"},{"container-title":"HP:0012833","author":[{"family":"Being present on only the left or only the right side of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012833","type":"entry-dictionary","title":"Unilateral"},{"container-title":"HP:0012834","author":[{"family":"right-sided"},{"family":"Being located on the right side of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012834","type":"entry-dictionary","title":"Right"},{"container-title":"HP:0012835","author":[{"family":"left-sided"},{"family":"Being located on the left side of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012835","type":"entry-dictionary","title":"Left"},{"container-title":"HP:0012836","author":[{"family":"The pattern by which a phenotype affects one or more regions of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012836","type":"entry-dictionary","title":"Spatial pattern"},{"container-title":"HP:0012837","author":[{"family":"generalised"},{"family":"Affecting all regions without specificity of distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012837","type":"entry-dictionary","title":"Generalized"},{"container-title":"HP:0012838","author":[{"family":"localised"},{"family":"localized"},{"family":"Being confined or restricted to a particular location."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012838","type":"entry-dictionary","title":"Localized"},{"container-title":"HP:0012839","author":[{"family":"outermost"},{"family":"Localized away from the central point of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012839","type":"entry-dictionary","title":"Distal"},{"container-title":"HP:0012840","author":[{"family":"Localized close to the central point of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012840","type":"entry-dictionary","title":"Proximal"},{"container-title":"HP:0012841","author":[{"family":"tortuous retinal vessels"},{"family":"The presence of an increased number of twists and turns of the retinal blood vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012841","type":"entry-dictionary","title":"Retinal vascular tortuosity"},{"container-title":"HP:0012842","author":[{"family":"skin adnexal tumor"},{"family":"skin adnexal neoplasm"},{"family":"A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012842","type":"entry-dictionary","title":"Skin appendage neoplasm"},{"container-title":"HP:0012843","author":[{"family":"An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012843","type":"entry-dictionary","title":"Hair follicle neoplasm"},{"container-title":"HP:0012844","author":[{"family":"tricholemmoma"},{"family":"A benign tumour originating from the outer root sheath of the hair follicle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012844","type":"entry-dictionary","title":"Trichilemmoma"},{"container-title":"HP:0012845","author":[{"family":"Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012845","type":"entry-dictionary","title":"Single trichilemmoma"},{"container-title":"HP:0012846","author":[{"family":"multiple trichilemmomas"},{"family":"Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012846","type":"entry-dictionary","title":"Multiple trichilemmomata"},{"container-title":"HP:0012847","author":[{"family":"A form of partial status epilepticus with simple motor manifestations that are maintained for over one hour, with clonic activity restricted to one body part and recurring at fairly regular intervals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012847","type":"entry-dictionary","title":"Epilepsia partialis continua"},{"container-title":"HP:0012848","author":[{"family":"narrowing of small intestine"},{"family":"The narrowing or partial blockage of a portion of the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012848","type":"entry-dictionary","title":"Small intestinal stenosis"},{"container-title":"HP:0012849","author":[{"family":"small intestinal bleeding"},{"family":"small intestinal hemorrhage"},{"family":"Bleeding from the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012849","type":"entry-dictionary","title":"Small intestinal bleeding"},{"container-title":"HP:0012850","author":[{"family":"Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012850","type":"entry-dictionary","title":"Small intestinal dysmotility"},{"container-title":"HP:0012851","author":[{"family":"narrowing of the colon"},{"family":"stenosis of the colon"},{"family":"A narrowing of a segment of colon whereby bowel continuity is maintained."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012851","type":"entry-dictionary","title":"Colonic stenosis"},{"container-title":"HP:0012852","author":[{"family":"Hepatic fibrosis that reaches from a portal area to another portal area."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012852","type":"entry-dictionary","title":"Hepatic bridging fibrosis"},{"container-title":"HP:0012853","author":[{"family":"Hypospadias with location of the urethral meatus in the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012853","type":"entry-dictionary","title":"Scrotal hypospadias"},{"container-title":"HP:0012854","author":[{"family":"Hypospadias with location of the urethral meatus in the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012854","type":"entry-dictionary","title":"Midshaft hypospadias"},{"container-title":"HP:0012855","author":[{"family":"hyperpigmentation of the scrotum"},{"family":"increased pigmentation in scrotum"},{"family":"hyperpigmented scrotum"},{"family":"Increased pigmentation (skin color) of the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012855","type":"entry-dictionary","title":"Scrotal hyperpigmentation"},{"container-title":"HP:0012856","author":[{"family":"Anomaly of the folded ridges (wrinkles) of skin of the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012856","type":"entry-dictionary","title":"Abnormal scrotal rugation"},{"container-title":"HP:0012857","author":[{"family":"Increased number or density of the folded ridges (wrinkles) of skin of the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012857","type":"entry-dictionary","title":"Increased scrotal rugation"},{"container-title":"HP:0012858","author":[{"family":"Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012858","type":"entry-dictionary","title":"Decreased scrotal rugation"},{"container-title":"HP:0012859","author":[{"family":"esophageal epidermoid metaplasia"},{"family":"A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012859","type":"entry-dictionary","title":"Esophageal leukoplakia"},{"container-title":"HP:0012860","author":[{"family":"fibrotic testes"},{"family":"fibrotic testicle"},{"family":"Formation of excess connective tissue in the testicle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012860","type":"entry-dictionary","title":"Testicular fibrosis"},{"container-title":"HP:0012861","author":[{"family":"A gonad that contains both ovarian follicles and testicular tubular elements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012861","type":"entry-dictionary","title":"Ovotestis"},{"container-title":"HP:0012862","author":[{"family":"abnormally shaped of reproductive cell"},{"family":"Any structural anomaly of a reproductive cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012862","type":"entry-dictionary","title":"Abnormal germ cell morphology"},{"container-title":"HP:0012863","author":[{"family":"A structural anomaly of a male reproductive cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012863","type":"entry-dictionary","title":"Abnormal male germ cell morphology"},{"container-title":"HP:0012864","author":[{"family":"teratospermia"},{"family":"teratozoospermia"},{"family":"abnormal shape of sperm"},{"family":"A structural anomaly of sperm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012864","type":"entry-dictionary","title":"Abnormal sperm morphology"},{"container-title":"HP:0012865","author":[{"family":"A structural abnormality of the sperm head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012865","type":"entry-dictionary","title":"Sperm head anomaly"},{"container-title":"HP:0012866","author":[{"family":"A structural abnormality of the sperm neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012866","type":"entry-dictionary","title":"Sperm neck anomaly"},{"container-title":"HP:0012867","author":[{"family":"A structural abnormality of the sperm mid-piece."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012867","type":"entry-dictionary","title":"Sperm mid-piece anomaly"},{"container-title":"HP:0012868","author":[{"family":"A structural abnormality of the sperm tail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012868","type":"entry-dictionary","title":"Sperm tail anomaly"},{"container-title":"HP:0012869","author":[{"family":"Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012869","type":"entry-dictionary","title":"Acephalic spermatozoa"},{"container-title":"HP:0012870","author":[{"family":"testicular regression syndrome"},{"family":"vanishing testis"},{"family":"A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012870","type":"entry-dictionary","title":"Vanishing testis"},{"container-title":"HP:0012871","author":[{"family":"vaginal varicocele"},{"family":"A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012871","type":"entry-dictionary","title":"Varicocele"},{"container-title":"HP:0012872","author":[{"family":"A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012872","type":"entry-dictionary","title":"Abnormal vas deferens morphology"},{"container-title":"HP:0012873","author":[{"family":"congenital absence of the vas deferens"},{"family":"absent ductus deferens"},{"family":"absent deferent duct"},{"family":"Aplasia (congenital absence) of the vas deferens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012873","type":"entry-dictionary","title":"Absent vas deferens"},{"container-title":"HP:0012874","author":[{"family":"abnormal male genital system physiology"},{"family":"An abnormal functionality of the male genital system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012874","type":"entry-dictionary","title":"Abnormal male reproductive system physiology"},{"container-title":"HP:0012875","author":[{"family":"Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012875","type":"entry-dictionary","title":"Abnormal ejaculation"},{"container-title":"HP:0012876","author":[{"family":"premature ejaculation"},{"family":"The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012876","type":"entry-dictionary","title":"Premature ejaculation"},{"container-title":"HP:0012877","author":[{"family":"The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012877","type":"entry-dictionary","title":"Retrograde ejaculation"},{"container-title":"HP:0012878","author":[{"family":"delayed ejaculation"},{"family":"Difficulty of a male in achieving orgasm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012878","type":"entry-dictionary","title":"Retarded ejaculation"},{"container-title":"HP:0012879","author":[{"family":"ejaculatory incompetence"},{"family":"Inability to ejaculate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012879","type":"entry-dictionary","title":"Anejaculation"},{"container-title":"HP:0012880","author":[{"family":"abnormality of the inner vaginal lips"},{"family":"An anomaly of the labia minora, the folds of skin between the outer labia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012880","type":"entry-dictionary","title":"Abnormality of the labia minora"},{"container-title":"HP:0012881","author":[{"family":"abnormality of vaginal lips"},{"family":"An anomaly of the outer labia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012881","type":"entry-dictionary","title":"Abnormality of the labia majora"},{"container-title":"HP:0012882","author":[{"family":"hyperplasia of labia majora"},{"family":"enlarged vaginal lips"},{"family":"enlarged labia majora"},{"family":"Overgrowth of the outer labia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012882","type":"entry-dictionary","title":"Hyperplastic labia majora"},{"container-title":"HP:0012883","author":[{"family":"A fluid filled sac located in the Fallopian tube."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012883","type":"entry-dictionary","title":"Fallopian tube cyst"},{"container-title":"HP:0012884","author":[{"family":"twisted fallopian tube"},{"family":"A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012884","type":"entry-dictionary","title":"Fallopian tube torsion"},{"container-title":"HP:0012885","author":[{"family":"accessory fallopian tube"},{"family":"The presence of a supernumerary Fallopian tube."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012885","type":"entry-dictionary","title":"Fallopian tube duplication"},{"container-title":"HP:0012886","author":[{"family":"An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012886","type":"entry-dictionary","title":"Hemorrhagic ovarian cyst"},{"container-title":"HP:0012887","author":[{"family":"serous ovarian cyst"},{"family":"A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012887","type":"entry-dictionary","title":"Ovarian serous cystadenoma"},{"container-title":"HP:0012888","author":[{"family":"An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012888","type":"entry-dictionary","title":"Abnormality of the uterine cervix"},{"container-title":"HP:0012889","author":[{"family":"Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012889","type":"entry-dictionary","title":"Cervical endometriosis"},{"container-title":"HP:0012890","author":[{"family":"Posterior malposition of the anus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012890","type":"entry-dictionary","title":"Posteriorly placed anus"},{"container-title":"HP:0012891","author":[{"family":"high hairline at back of head"},{"family":"Hair on the neck extends less inferiorly than usual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012891","type":"entry-dictionary","title":"High posterior hairline"},{"container-title":"HP:0012892","author":[{"family":"increased size of facial muscles"},{"family":"hyperplasia of facial muscles"},{"family":"large facial muscles"},{"family":"Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012892","type":"entry-dictionary","title":"Facial muscle hypertrophy"},{"container-title":"HP:0012893","author":[{"family":"hypertrophy of cervical muscles"},{"family":"hyperplasia of neck muscles"},{"family":"large neck muscles"},{"family":"overgrowth of neck muscles"},{"family":"increased size of neck muscles"},{"family":"Muscle hypertrophy affecting the muscles of the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012893","type":"entry-dictionary","title":"Neck muscle hypertrophy"},{"container-title":"HP:0012894","author":[{"family":"Muscle hypertrophy affecting the paraspinal muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012894","type":"entry-dictionary","title":"Paraspinal muscle hypertrophy"},{"container-title":"HP:0012895","author":[{"family":"Muscle hypertrophy affecting the scapular muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012895","type":"entry-dictionary","title":"Scapular muscle hypertrophy"},{"container-title":"HP:0012896","author":[{"family":"An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012896","type":"entry-dictionary","title":"Abnormal motor evoked potentials"},{"container-title":"HP:0012897","author":[{"family":"abnormal motor evoked potentials in the upper limb"},{"family":"An anomaly identified by motor evoked potentials (MEPs) in the arm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012897","type":"entry-dictionary","title":"Abnormal upper-limb motor evoked potentials"},{"container-title":"HP:0012898","author":[{"family":"abnormal motor evoked potentials in the lower limb"},{"family":"An anomaly identified by motor evoked potentials (MEPs) in the leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012898","type":"entry-dictionary","title":"Abnormal lower-limb motor evoked potentials"},{"container-title":"HP:0012899","author":[{"family":"grip myotonia"},{"family":"Difficulty releasing one's grip associated with prolonged first handgrip relaxation times."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012899","type":"entry-dictionary","title":"Handgrip myotonia"},{"container-title":"HP:0012900","author":[{"family":"Slowed relaxation of muscles in the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012900","type":"entry-dictionary","title":"Myotonia of the face"},{"container-title":"HP:0012901","author":[{"family":"Slowed relaxation of muscles in the jaw."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012901","type":"entry-dictionary","title":"Myotonia of the jaw"},{"container-title":"HP:0012902","author":[{"family":"Slowed relaxation of muscles in the leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012902","type":"entry-dictionary","title":"Myotonia of the lower limb"},{"container-title":"HP:0012903","author":[{"family":"Slowed relaxation of muscles in the arm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012903","type":"entry-dictionary","title":"Myotonia of the upper limb"},{"container-title":"HP:0012904","author":[{"family":"An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012904","type":"entry-dictionary","title":"Cold-sensitive myotonia"},{"container-title":"HP:0012905","author":[{"family":"kabuki syndrome eyelids"},{"family":"Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0012905","type":"entry-dictionary","title":"Euryblepharon"},{"container-title":"HP:0410006","author":[{"family":"ophthalmic artery anomaly"},{"family":"Abnormality of the first branch of the internal carotid artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410006","type":"entry-dictionary","title":"Abnormality of ophthalmic artery"},{"container-title":"HP:0410007","author":[{"family":"Any abnormality of cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410007","type":"entry-dictionary","title":"Abnormality of cartilage morphology"},{"container-title":"HP:0410004","author":[{"family":"cleft roof of mouth"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410004","type":"entry-dictionary","title":"Cleft secondary palate"},{"container-title":"HP:0410005","author":[{"family":"cleft of hard palate"},{"family":"cleft bony palate"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410005","type":"entry-dictionary","title":"Cleft hard palate"},{"container-title":"HP:0410003","author":[{"family":"cleft anterior maxilla"},{"family":"cleft maxillary alveolus"},{"family":"cleft alveolar process of maxilla"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410003","type":"entry-dictionary","title":"Cleft primary palate"},{"container-title":"HP:0410000","author":[{"family":"defect of vomer"},{"family":"abnormality of vomer bone"},{"family":"An abnormality of the vomer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410000","type":"entry-dictionary","title":"Abnormality of vomer"},{"container-title":"HP:0410014","author":[{"family":"An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410014","type":"entry-dictionary","title":"Abnormality of ganglion"},{"container-title":"HP:0410015","author":[{"family":"An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410015","type":"entry-dictionary","title":"Abnormality of ganglion of peripheral nervous system"},{"container-title":"HP:0410012","author":[{"family":"abnormality of the floor of mouth"},{"family":"abnormality of the mouth floor"},{"family":"Any abnormality of the mouth floor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410012","type":"entry-dictionary","title":"Abnormality of the mouth floor"},{"container-title":"HP:0410013","author":[{"family":"Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410013","type":"entry-dictionary","title":"Abnormality of the submandibular region"},{"container-title":"HP:0410010","author":[{"family":"Any abnormality of the somatic nerve plexus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410010","type":"entry-dictionary","title":"Abnormality of somatic nerve plexus"},{"container-title":"HP:0410011","author":[{"family":"abnormality of muscles of mastication"},{"family":"Any abnormality of the masticatory muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410011","type":"entry-dictionary","title":"Abnormality of masticatory muscle"},{"container-title":"HP:0410008","author":[{"family":"abnormality of the peripheral nervous system"},{"family":"Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410008","type":"entry-dictionary","title":"Abnormality of the peripheral nervous system"},{"container-title":"HP:0410009","author":[{"family":"Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410009","type":"entry-dictionary","title":"Abnormality of the somatic nervous system"},{"container-title":"HP:0410022","author":[{"family":"vaginal fish odour"},{"family":"vaginal fish odor"},{"family":"A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410022","type":"entry-dictionary","title":"Vaginal fish odor"},{"container-title":"HP:0410023","author":[{"family":"An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410023","type":"entry-dictionary","title":"Abnormal distribution of cell junction proteins in buccal mucosal cells"},{"container-title":"HP:0410020","author":[{"family":"fishy odor"},{"family":"fish odour"},{"family":"Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylaminuria (TMA) in the urine, sweat, and breath of affected individuals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410020","type":"entry-dictionary","title":"Fish odor"},{"container-title":"HP:0410021","author":[{"family":"musty odour"},{"family":"musty odor"},{"family":"Pungent body odor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410021","type":"entry-dictionary","title":"Musty odor"},{"container-title":"HP:0410018","author":[{"family":"recurrent ear infections"},{"family":"frequent ear infections"},{"family":"Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410018","type":"entry-dictionary","title":"Recurrent ear infections"},{"container-title":"HP:0410019","author":[{"family":"epigastrium pain"},{"family":"Pain that is localized to the region of the upper abdomen immediately below the ribs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410019","type":"entry-dictionary","title":"Epigastric pain"},{"container-title":"HP:0410016","author":[{"family":"An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410016","type":"entry-dictionary","title":"Abnormality of cranial ganglion"},{"container-title":"HP:0410017","author":[{"family":"swimmer's ear"},{"family":"Inflammation or infection of the external auditory canal (EAC), the auricle, or both."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410017","type":"entry-dictionary","title":"Otitis externa"},{"container-title":"HP:0410030","author":[{"family":"cleft lip"},{"family":"cleft of the lip"},{"family":"A gap in the lip or lips."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410030","type":"entry-dictionary","title":"Cleft lip"},{"container-title":"HP:0410031","author":[{"family":"Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410031","type":"entry-dictionary","title":"Submucous cleft of soft and hard palate"},{"container-title":"HP:0410028","author":[{"family":"oral varicella"},{"family":"Blisters or ulcers on the gums, lips and\/or tongue caused by herpes virus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410028","type":"entry-dictionary","title":"Oral herpes"},{"container-title":"HP:0410026","author":[{"family":"Any abnormality of the periodontium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410026","type":"entry-dictionary","title":"Abnormality of the periodontium"},{"container-title":"HP:0410027","author":[{"family":"bone loss around teeth"},{"family":"A decrease in the amount of alveolar bone around the root of a tooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410027","type":"entry-dictionary","title":"Alveolar bone loss around teeth"},{"container-title":"HP:0410034","author":[{"family":"Nonmidline avleolar cleft of the maxilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410034","type":"entry-dictionary","title":"Bilateral alveolar cleft of maxilla"},{"container-title":"HP:0410035","author":[{"family":"abnormal t-cell activation"},{"family":"abnormal t-lymphocyte activation"},{"family":"abnormal t lymphocyte activation"},{"family":"Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410035","type":"entry-dictionary","title":"Abnormal T cell activation"},{"container-title":"HP:0410032","author":[{"family":"A split or cleft in the uvula resulting from incomplete fusion of the palatine shelves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410032","type":"entry-dictionary","title":"Cleft of uvula"},{"container-title":"HP:0410033","author":[{"family":"One sided alveolar cleft of the maxilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410033","type":"entry-dictionary","title":"Unilateral alveolar cleft of maxilla"},{"container-title":"HP:0410042","author":[{"family":"Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410042","type":"entry-dictionary","title":"Abnormal liver morphology"},{"container-title":"HP:0410043","author":[{"family":"Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410043","type":"entry-dictionary","title":"Abnormal neural tube morphology"},{"container-title":"HP:0410054","author":[{"family":"decreased level of gamma-aminobutyric acid in serum"},{"family":"A decrease in the level of GABA in the serum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410054","type":"entry-dictionary","title":"Decreased level of GABA in serum"},{"container-title":"HP:0410055","author":[{"family":"A decrease in the level of erythritol in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410055","type":"entry-dictionary","title":"Decreased level of erythritol in urine"},{"container-title":"HP:0410052","author":[{"family":"An increase in the level of allantoin in the serum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410052","type":"entry-dictionary","title":"Increased level of allantoin in serum"},{"container-title":"HP:0410053","author":[{"family":"increased level of gamma-aminobutyric acid in serum"},{"family":"An increase in the level of GABA in the serum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410053","type":"entry-dictionary","title":"Increased level of GABA in serum"},{"container-title":"HP:0410050","author":[{"family":"decreased level of 1,5-ag in serum"},{"family":"decreased level of 1,5-anhydro-d-glucitol in serum"},{"family":"decreased level of 1,5-anhydroglucitol in serum"},{"family":"A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410050","type":"entry-dictionary","title":"Decreased level of 1,5 anhydroglucitol in serum"},{"container-title":"HP:0410051","author":[{"family":"an increase in the level of 3-hydroxy-3-methylglutaric acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410051","type":"entry-dictionary","title":"Increased level of 3-hydroxy-3-methylglutaric acid in urine"},{"container-title":"HP:0410049","author":[{"family":"radial ray anomaly"},{"family":"deformity of radial ray"},{"family":"radial ray abnormality"},{"family":"radial ray deformity"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410049","type":"entry-dictionary","title":"Abnormality of radial ray"},{"container-title":"HP:0410062","author":[{"family":"An increase in the level of galactitol in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410062","type":"entry-dictionary","title":"Increased level of galactitol in urine"},{"container-title":"HP:0410063","author":[{"family":"increased level of galactonate in erythrocytes"},{"family":"An increase in the level of galactonate in the red blood cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410063","type":"entry-dictionary","title":"Increased level of galactonate in red blood cells"},{"container-title":"HP:0410060","author":[{"family":"A decrease in the level of D-mannose in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410060","type":"entry-dictionary","title":"Decreased level of D-mannose in urine"},{"container-title":"HP:0410061","author":[{"family":"An increase in the level of galactitol in the plasma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410061","type":"entry-dictionary","title":"Increased level of galactitol in plasma"},{"container-title":"HP:0410058","author":[{"family":"increased level of d-threitol in cerebrospinal fluid"},{"family":"An increase in the level of D-threitol in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410058","type":"entry-dictionary","title":"Increased level of D-threitol in CSF"},{"container-title":"HP:0410059","author":[{"family":"An increase in the level of D-threitol in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410059","type":"entry-dictionary","title":"Increased level of D-threitol in urine"},{"container-title":"HP:0410056","author":[{"family":"decreased level of erythritol in cerebrospinal fluid"},{"family":"A decrease in the level of erythritol in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410056","type":"entry-dictionary","title":"Decreased level of erythritol in CSF"},{"container-title":"HP:0410057","author":[{"family":"An increase in the level of D-threitol in the plasma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410057","type":"entry-dictionary","title":"Increased level of D-threitol in plasma"},{"container-title":"HP:0410070","author":[{"family":"An increase in the level of ribitol in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410070","type":"entry-dictionary","title":"Increased level of ribitol in urine"},{"container-title":"HP:0410071","author":[{"family":"increased level of ribitol in cerebrospinal fluid"},{"family":"An increase in the level of ribitol in the cerebral spinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410071","type":"entry-dictionary","title":"Increased level of ribitol in CSF"},{"container-title":"HP:0410068","author":[{"family":"An increase in the level of L-glutamic acid in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410068","type":"entry-dictionary","title":"Increased level of L-glutamic acid in blood"},{"container-title":"HP:0410069","author":[{"family":"increased level of propane-1,2-diol in blood"},{"family":"An increase in the level of propylene glycol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410069","type":"entry-dictionary","title":"Increased level of propylene glycol in blood"},{"container-title":"HP:0410066","author":[{"family":"increased level of n-benzoylglycine in urine"},{"family":"An increase in the level of hippuric acid in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410066","type":"entry-dictionary","title":"Increased level of hippuric acid in urine"},{"container-title":"HP:0410067","author":[{"family":"An increase in the level of L-fucose in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0410067","type":"entry-dictionary","title":"Increased level of L-fucose in urine"},{"container-title":"HP:0410064","author":[{"family":"increased level of galactitol in erythrocytes"},{"family":"An increase in the level of galactitol in the red blood 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The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0020038","type":"entry-dictionary","title":"Vertebrobasilar dolichoectasia"},{"container-title":"HP:0020041","author":[{"family":"A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0020041","type":"entry-dictionary","title":"Double elevator palsy"},{"container-title":"HP:0020042","author":[{"family":"An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0020042","type":"entry-dictionary","title":"Double depressor palsy"},{"container-title":"HP:0020043","author":[{"family":"A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and\/or downwards."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0020043","type":"entry-dictionary","title":"Vertically incomitant strabismus"},{"container-title":"HP:0020044","author":[{"family":"Horizontally incomitant strabismus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0020044","type":"entry-dictionary","title":"Horizontally incomitant strabismus"},{"container-title":"HP:0020045","author":[{"family":"convergent strabismus"},{"family":"A manifest or latent ocular deviation in which one or other eye tends to deviate nasally."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0020045","type":"entry-dictionary","title":"Esodeviation"},{"container-title":"HP:0020046","author":[{"family":"A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0020046","type":"entry-dictionary","title":"Accommodative esotropia"},{"container-title":"HP:0020047","author":[{"family":"Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0020047","type":"entry-dictionary","title":"Abnormal myeloid cell morphology"},{"container-title":"HP:0020048","author":[{"family":"A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0020048","type":"entry-dictionary","title":"Reduced bone-marrow pro-B cell count"},{"container-title":"HP:0020049","author":[{"family":"divergent strabismus"},{"family":"A manifest or latent ocular deviation in which one or other eye tends to deviate temporally."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0020049","type":"entry-dictionary","title":"Exodeviation"},{"container-title":"HP:0020050","author":[{"family":"anti-gm-csf antibody positivity"},{"family":"The presence of autoantibodies in the serum that react against granocyte-macrophage colony stimulating factor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0020050","type":"entry-dictionary","title":"Anti-granocyte-macrophage colony stimulating factor antibody positivity"},{"container-title":"HP:0025004","author":[{"family":"arthritis of the big toe"},{"family":"Osteoarthritis of the metatarsophalangeal joint of the first toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025004","type":"entry-dictionary","title":"Hallux rigidus"},{"container-title":"HP:0025005","author":[{"family":"Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025005","type":"entry-dictionary","title":"Thickening of glomerular capillary wall"},{"container-title":"HP:0025006","author":[{"family":"A structural anomaly of the capillary blood vessels inthe renal glomerulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025006","type":"entry-dictionary","title":"Abnormal glomerular capillary morphology"},{"container-title":"HP:0025007","author":[{"family":"ectopic macula"},{"family":"An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025007","type":"entry-dictionary","title":"Ectopic fovea"},{"container-title":"HP:0025008","author":[{"family":"Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025008","type":"entry-dictionary","title":"Tracheal tug on inspiration"},{"container-title":"HP:0025009","author":[{"family":"forward directed upper incisors"},{"family":"protruding upper incisors"},{"family":"proclination of the upper incisors"},{"family":"The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025009","type":"entry-dictionary","title":"Forward slanting upper incisors"},{"container-title":"HP:0025010","author":[{"family":"Partial or complete loss of foveal tissue that was once present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025010","type":"entry-dictionary","title":"Foveal atrophy"},{"container-title":"HP:0025011","author":[{"family":"Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025011","type":"entry-dictionary","title":"Pyriform aperture stenosis"},{"container-title":"HP:0025012","author":[{"family":"Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025012","type":"entry-dictionary","title":"Status cribrosum"},{"container-title":"HP:0025013","author":[{"family":"decerebrate posturing"},{"family":"A type of rigidity that is manifested by an exaggerated extensor posture of all extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025013","type":"entry-dictionary","title":"Decerebrate rigidity"},{"container-title":"HP:0025014","author":[{"family":"Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025014","type":"entry-dictionary","title":"Subcutaneous spheroids"},{"container-title":"HP:0025015","author":[{"family":"Abnormal vascular morphology"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025015","type":"entry-dictionary","title":"Abnormal vascular morphology"},{"container-title":"HP:0025016","author":[{"family":"A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025016","type":"entry-dictionary","title":"Abnormal capillary morphology"},{"container-title":"HP:0025017","author":[{"family":"Reduced resistance to rupture of capikllary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025017","type":"entry-dictionary","title":"Capillary fragility"},{"container-title":"HP:0025018","author":[{"family":"A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025018","type":"entry-dictionary","title":"Abnormal capillary physiology"},{"container-title":"HP:0025019","author":[{"family":"Sudden breakage of an artery leading to leakage of blood from the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025019","type":"entry-dictionary","title":"Arterial rupture"},{"container-title":"HP:0025020","author":[{"family":"An increased concentration of prostate specific antigen (PSA) in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025020","type":"entry-dictionary","title":"Elevated prostate-specific antigen level"},{"container-title":"HP:0025021","author":[{"family":"abnormal esr"},{"family":"abnormal westergren sedimentation rate"},{"family":"A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025021","type":"entry-dictionary","title":"Abnormal erythrocyte sedimentation rate"},{"container-title":"HP:0025022","author":[{"family":"low esr"},{"family":"A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025022","type":"entry-dictionary","title":"Decreased erythrocyte sedimentation rate"},{"container-title":"HP:0025023","author":[{"family":"atresia of the rectum"},{"family":"A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025023","type":"entry-dictionary","title":"Rectal atresia"},{"container-title":"HP:0025024","author":[{"family":"An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or mulscular abnormalities, which remains after disimpaction of the rectum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025024","type":"entry-dictionary","title":"Megarectum"},{"container-title":"HP:0025025","author":[{"family":"vestibular fistula"},{"family":"A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025025","type":"entry-dictionary","title":"Rectovestibular fistula"},{"container-title":"HP:0025026","author":[{"family":"Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025026","type":"entry-dictionary","title":"H-type rectovestibular fistula"},{"container-title":"HP:0025027","author":[{"family":"osteomatosis"},{"family":"miliary osteoma"},{"family":"cutaneous osteosis"},{"family":"The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025027","type":"entry-dictionary","title":"Osteoma cutis"},{"container-title":"HP:0025028","author":[{"family":"A structural anomaly of nerves of the enteric nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025028","type":"entry-dictionary","title":"Abnormality of enteric nervous system morphology"},{"container-title":"HP:0025029","author":[{"family":"Abnormality of enteric neuron morphology"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025029","type":"entry-dictionary","title":"Abnormality of enteric neuron morphology"},{"container-title":"HP:0025030","author":[{"family":"degenerative enteric neuropathy"},{"family":"Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025030","type":"entry-dictionary","title":"Enteric neuronal degeneration"},{"container-title":"HP:0025031","author":[{"family":"Abnormality of the digestive system"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025031","type":"entry-dictionary","title":"Abnormality of the digestive system"},{"container-title":"HP:0025032","author":[{"family":"A functional anomaly of the digestive system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025032","type":"entry-dictionary","title":"Abnormality of digestive system physiology"},{"container-title":"HP:0025033","author":[{"family":"A structural anomaly of the digestive system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025033","type":"entry-dictionary","title":"Abnormality of digestive system morphology"},{"container-title":"HP:0025034","author":[{"family":"Abnormal form of the progenitor cells committed to the erythroid lineage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025034","type":"entry-dictionary","title":"Abnormal morphology of erythroid progenitor cell"},{"container-title":"HP:0025035","author":[{"family":"Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025035","type":"entry-dictionary","title":"Abnormal proerythroblast morphology"},{"container-title":"HP:0025037","author":[{"family":"Focal proliferation of glial cells in the hypothalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025037","type":"entry-dictionary","title":"Hypothalamic gliosis"},{"container-title":"HP:0025038","author":[{"family":"testicular abscess"},{"family":"A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025038","type":"entry-dictionary","title":"Intratesticular abscess"},{"container-title":"HP:0025039","author":[{"family":"basal ganglia oedema"},{"family":"oedema of the basal ganglia"},{"family":"Swelling within the basal ganglia due to the accumulation of fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025039","type":"entry-dictionary","title":"Basal ganglia edema"},{"container-title":"HP:0025040","author":[{"family":"thalamic oedema"},{"family":"oedema of the thalamus"},{"family":"Swelling within the thalamus due to the accumulation of fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025040","type":"entry-dictionary","title":"Thalamic edema"},{"container-title":"HP:0025041","author":[{"family":"Calcium deposition in the thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025041","type":"entry-dictionary","title":"Thalamic calcification"},{"container-title":"HP:0025042","author":[{"family":"A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025042","type":"entry-dictionary","title":"Abnormality of mesenteric lymph nodes"},{"container-title":"HP:0025043","author":[{"family":"Increase in size of one or more mesenteric lymph nodes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025043","type":"entry-dictionary","title":"Enlarged mesenteric lymph node"},{"container-title":"HP:0025044","author":[{"family":"A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025044","type":"entry-dictionary","title":"Lung abscess"},{"container-title":"HP:0025045","author":[{"family":"abnormal lactate level by magnetic resonance spectroscopy"},{"family":"A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025045","type":"entry-dictionary","title":"Abnormal brain lactate level by MRS"},{"container-title":"HP:0025046","author":[{"family":"reduced brain lactate level by magnetic resonance spectroscopy"},{"family":"A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025046","type":"entry-dictionary","title":"Reduced brain lactate level by MRS"},{"container-title":"HP:0025047","author":[{"family":"abnormal brain choline level by magnetic resonance spectroscopy"},{"family":"A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025047","type":"entry-dictionary","title":"Abnormal brain choline level by MRS"},{"container-title":"HP:0025048","author":[{"family":"reduced brain choline level by magnetic resonance spectroscopy"},{"family":"An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025048","type":"entry-dictionary","title":"Reduced brain choline level by MRS"},{"container-title":"HP:0025049","author":[{"family":"abnormal brain creatine level by magnetic resonance spectroscopy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025049","type":"entry-dictionary","title":"Abnormal brain creatine level by MRS"},{"container-title":"HP:0025050","author":[{"family":"elevated brain creatine level by magnetic resonance spectroscopy"},{"family":"An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025050","type":"entry-dictionary","title":"Elevated brain creatine level by MRS"},{"container-title":"HP:0025051","author":[{"family":"reduced brain creatine level by magnetic resonance spectroscopy"},{"family":"A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025051","type":"entry-dictionary","title":"Reduced brain creatine level by MRS"},{"container-title":"HP:0025052","author":[{"family":"abnormal brain n-acetyl aspartate level by magnetic resonance spectroscopy"},{"family":"A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025052","type":"entry-dictionary","title":"Abnormal brain N-acetyl aspartate level by MRS"},{"container-title":"HP:0025053","author":[{"family":"elevated brain n-acetyl aspartate level by magnetic resonance spectroscopy"},{"family":"An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025053","type":"entry-dictionary","title":"Elevated brain N-acetyl aspartate level by MRS"},{"container-title":"HP:0025057","author":[{"family":"A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025057","type":"entry-dictionary","title":"Abnormality of olfactory lobe morphology"},{"container-title":"HP:0025058","author":[{"family":"partial or complete wasting (loss) of hypothalamus tissue that was once present."},{"family":"atrophy of the hypothalamus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025058","type":"entry-dictionary","title":"Hypothalamic atrophy"},{"container-title":"HP:0025059","author":[{"family":"A circumscribed area of pus or necrotic debris in the parenchyma of the spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025059","type":"entry-dictionary","title":"Splenic abscess"},{"container-title":"HP:0025060","author":[{"family":"multilocular splenic abscess"},{"family":"Multiple abscess lesions in the spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025060","type":"entry-dictionary","title":"Multifocal splenic abscess"},{"container-title":"HP:0025061","author":[{"family":"unilocular splenic abscess"},{"family":"solitary splenic abscess"},{"family":"Single (solitary) abscess in the spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025061","type":"entry-dictionary","title":"Unifocal splenic abscess"},{"container-title":"HP:0025062","author":[{"family":"geophagy"},{"family":"The practice of eating earth or soil-like substrates such as clay or chalk."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025062","type":"entry-dictionary","title":"Geophagia"},{"container-title":"HP:0025063","author":[{"family":"The anterior abdominal wall is sunken and presents a concave rather than a convex contour."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025063","type":"entry-dictionary","title":"Scaphoid abdomen"},{"container-title":"HP:0025064","author":[{"family":"thalamic haemorrhage"},{"family":"Bleeding in the thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025064","type":"entry-dictionary","title":"Thalamic hemorrhage"},{"container-title":"HP:0025065","author":[{"family":"A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025065","type":"entry-dictionary","title":"Abnormal erythrocyte volume"},{"container-title":"HP:0025066","author":[{"family":"microcytosis"},{"family":"A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025066","type":"entry-dictionary","title":"Decreased mean corpuscular volume"},{"container-title":"HP:0025068","author":[{"family":"Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025068","type":"entry-dictionary","title":"Incomitant strabismus"},{"container-title":"HP:0025069","author":[{"family":"comitant strabismus"},{"family":"Strabismus in which the angle of deviation of the squiting eye remains the same in rleation to the other eye, in all directions of gaze, and whichever eye is fixing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025069","type":"entry-dictionary","title":"Concomitant strabismus"},{"container-title":"HP:0025070","author":[{"family":"An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025070","type":"entry-dictionary","title":"Abnormal U wave"},{"container-title":"HP:0025071","author":[{"family":"Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025071","type":"entry-dictionary","title":"U wave inversion"},{"container-title":"HP:0025072","author":[{"family":"increased u wave amplitude"},{"family":"Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025072","type":"entry-dictionary","title":"Prominent U wave"},{"container-title":"HP:0025073","author":[{"family":"U wave inversion that is induced by exercise stress testing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025073","type":"entry-dictionary","title":"Exercise-induced U wave inversion"},{"container-title":"HP:0025074","author":[{"family":"An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025074","type":"entry-dictionary","title":"Abnormal QRS complex"},{"container-title":"HP:0025075","author":[{"family":"Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025075","type":"entry-dictionary","title":"Increased QRS voltage"},{"container-title":"HP:0025076","author":[{"family":"Abnormal amplitude of the QRS complex of the electrocardiogram (EKG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025076","type":"entry-dictionary","title":"Abnormal QRS voltage"},{"container-title":"HP:0025077","author":[{"family":"Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025077","type":"entry-dictionary","title":"Decreased QRS voltage"},{"container-title":"HP:0025078","author":[{"family":"The QRS complexes of the electrocardiogram alternate in height."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025078","type":"entry-dictionary","title":"Electrical alternans"},{"container-title":"HP:0025079","author":[{"family":"pancreas abscess"},{"family":"A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025079","type":"entry-dictionary","title":"Pancreatic abscess"},{"container-title":"HP:0025080","author":[{"family":"A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025080","type":"entry-dictionary","title":"Orthokeratotic hyperkeratosis"},{"container-title":"HP:0025081","author":[{"family":"A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025081","type":"entry-dictionary","title":"Darier's sign"},{"container-title":"HP:0025082","author":[{"family":"Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025082","type":"entry-dictionary","title":"Abnormal cutaneous elastic fiber morphology"},{"container-title":"HP:0025083","author":[{"family":"An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025083","type":"entry-dictionary","title":"Elevated dermal desmosine content"},{"container-title":"HP:0025084","author":[{"family":"Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025084","type":"entry-dictionary","title":"Folliculitis"},{"container-title":"HP:0025085","author":[{"family":"bloody stool"},{"family":"blood in stool"},{"family":"bloody diarrhoea"},{"family":"bloody bowel movement"},{"family":"bloody diarrhea"},{"family":"Passage of many stools containing blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025085","type":"entry-dictionary","title":"Bloody diarrhea"},{"container-title":"HP:0025086","author":[{"family":"bloody mucoid diarrhoea"},{"family":"Passage of many stools containing blood and mucus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025086","type":"entry-dictionary","title":"Bloody mucoid diarrhea"},{"container-title":"HP:0025087","author":[{"family":"Area of skin requiring an increased amount of time to return to its original shape after being stretched."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025087","type":"entry-dictionary","title":"Delayed recoil upon stretching of skin"},{"container-title":"HP:0025088","author":[{"family":"Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025088","type":"entry-dictionary","title":"Onychomadesis"},{"container-title":"HP:0025089","author":[{"family":"stercoraceous vomiting"},{"family":"fecal vomiting"},{"family":"Vomiting of material that is of fecal origin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025089","type":"entry-dictionary","title":"Feculent vomiting"},{"container-title":"HP:0025090","author":[{"family":"A structural anomaly of the mucous lining of the large intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025090","type":"entry-dictionary","title":"Abnormal large intestinal mucosa morphology"},{"container-title":"HP:0025092","author":[{"family":"acanthotic epidermis"},{"family":"acanthosis"},{"family":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025092","type":"entry-dictionary","title":"Epidermal acanthosis"},{"container-title":"HP:0025093","author":[{"family":"peripapillary exudation"},{"family":"A retinal exudate in the area surrounding the optic nerve head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025093","type":"entry-dictionary","title":"Peripapillary exudate"},{"container-title":"HP:0025094","author":[{"family":"A subretinal scar with a disc-like shape in the region of the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025094","type":"entry-dictionary","title":"Disciform macular scar"},{"container-title":"HP:0025095","author":[{"family":"A sudden violent, spasmodic, audible expiration of breath through the nose and mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025095","type":"entry-dictionary","title":"Sneeze"},{"container-title":"HP:0025096","author":[{"family":"Unprovoked explosive pathological sneezing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025096","type":"entry-dictionary","title":"Paroxysmal sneezing"},{"container-title":"HP:0025097","author":[{"family":"blepharoclonus"},{"family":"eyelid myoclonia"},{"family":"Marked, involuntary jerking of the eyelids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025097","type":"entry-dictionary","title":"Eyelid myoclonus"},{"container-title":"HP:0025098","author":[{"family":"hypothalamic dysgenesis"},{"family":"Structural abnormality of the hypothalamus related to defective development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025098","type":"entry-dictionary","title":"Dysgenesis of the hypothalamus"},{"container-title":"HP:0025099","author":[{"family":"thalamic dysgenesis"},{"family":"Structural abnormality of the thalamus related to defective development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025099","type":"entry-dictionary","title":"Dysgenesis of the thalamus"},{"container-title":"HP:0025100","author":[{"family":"Any structural anomaly of the hippocampus,"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025100","type":"entry-dictionary","title":"Abnormal morphology of the hippocampus"},{"container-title":"HP:0025101","author":[{"family":"hippocampal dysgenesis"},{"family":"Structural abnormality of the hippocampus related to defective development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025101","type":"entry-dictionary","title":"Dysgenesis of the hippocampus"},{"container-title":"HP:0025102","author":[{"family":"basal ganglia dysgenesis"},{"family":"Structural abnormality of the basal ganglia related to defective development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025102","type":"entry-dictionary","title":"Dysgenesis of the basal ganglia"},{"container-title":"HP:0025103","author":[{"family":"A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025103","type":"entry-dictionary","title":"Umbilicated nodule"},{"container-title":"HP:0025104","author":[{"family":"A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a cpillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025104","type":"entry-dictionary","title":"Capillary malformation"},{"container-title":"HP:0025105","author":[{"family":"naevus anaemicus"},{"family":"A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots\/"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025105","type":"entry-dictionary","title":"Nevus anemicus"},{"container-title":"HP:0025106","author":[{"family":"A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025106","type":"entry-dictionary","title":"Nevus roseus"},{"container-title":"HP:0025107","author":[{"family":"A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025107","type":"entry-dictionary","title":"Cutis marmorata telangiectatica congenita"},{"container-title":"HP:0025108","author":[{"family":"Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025108","type":"entry-dictionary","title":"Angioma serpentinum"},{"container-title":"HP:0025109","author":[{"family":"reduced erythrocyte pyruvate kinase activity"},{"family":"Decrease in the activity of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025109","type":"entry-dictionary","title":"Reduced red cell pyruvate kinase activity"},{"container-title":"HP:0025110","author":[{"family":"Yellow\/white, sharply delineated lesion, typically of inflammatory nature, involving the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025110","type":"entry-dictionary","title":"Placoid macular lesion"},{"container-title":"HP:0025112","author":[{"family":"noise sensitivity"},{"family":"Decreased tolerance to sound."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025112","type":"entry-dictionary","title":"Sound sensitivity"},{"container-title":"HP:0025113","author":[{"family":"An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025113","type":"entry-dictionary","title":"Misophonia"},{"container-title":"HP:0025114","author":[{"family":"Hypergranulosis is an increased thickness of the stratum granulosum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025114","type":"entry-dictionary","title":"Hypergranulosis"},{"container-title":"HP:0025115","author":[{"family":"hyaline bodies"},{"family":"cytoid bodies"},{"family":"colloid bodies of civatte"},{"family":"Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis\/epithelium and more frequently in dermis\/connective tissue. They are known as CBs (in epithelium\/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025115","type":"entry-dictionary","title":"Civatte bodies"},{"container-title":"HP:0025116","author":[{"family":"An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025116","type":"entry-dictionary","title":"Fetal distress"},{"container-title":"HP:0025117","author":[{"family":"flattened rete ridges"},{"family":"flattened rete pegs"},{"family":"Ret pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025117","type":"entry-dictionary","title":"Rete ridge flattening"},{"container-title":"HP:0025118","author":[{"family":"Lightening or darkening of the lips from their usual coloring."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025118","type":"entry-dictionary","title":"Lip discoloration"},{"container-title":"HP:0025119","author":[{"family":"An alteration of the color of the lip to take on a violet color. This term does not include cyanosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025119","type":"entry-dictionary","title":"Violet lip discoloration"},{"container-title":"HP:0025121","author":[{"family":"A type of focal seizure (i.e., affecting initially only one hemisphere of the brain) that is simple (not resulting in alteration of consciousness) that originates in the occipital lobe. Visual hallucinations are the hallmark of occipital seizures, but are not invariably present. Hallucinations typically commence in the visual field contralateral to the affected visual cortex and then spread to involve the entire visual field. Elementary visual seizures are characterized by fleeting visual manifestations which may be either positive (flashes, phosphenes) or, less commonly, negative (scotoma, hemianopia, amaurosis). Positive phenomena are usually flashes of colour or light, which are simple in shape and may be static or mobile."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025121","type":"entry-dictionary","title":"Simple partial occipital seizures"},{"container-title":"HP:0025122","author":[{"family":"sawtoothed acanthosis"},{"family":"A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025122","type":"entry-dictionary","title":"Sawtooth acanthosis"},{"container-title":"HP:0025123","author":[{"family":"Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025123","type":"entry-dictionary","title":"White streaks\/specks on enamel."},{"container-title":"HP:0025124","author":[{"family":"spontaneous tooth fracture"},{"family":"enamel with tendency to chip"},{"family":"A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025124","type":"entry-dictionary","title":"Fragile teeth"},{"container-title":"HP:0025125","author":[{"family":"White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps od surface ulcerations and collapsed bullae can appear white."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025125","type":"entry-dictionary","title":"White lesion of the oral mucosa"},{"container-title":"HP:0025126","author":[{"family":"A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025126","type":"entry-dictionary","title":"Oral hairy leukoplakia"},{"container-title":"HP:0025127","author":[{"family":"solar keratosis"},{"family":"A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025127","type":"entry-dictionary","title":"Actinic keratosis"},{"container-title":"HP:0025128","author":[{"family":"An abnormally reduced amount of adipose tissue in the abdominal cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025128","type":"entry-dictionary","title":"Reduced intraabdominal adipose tissue"},{"container-title":"HP:0025129","author":[{"family":"A structural anomaly of the mucous lining of the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025129","type":"entry-dictionary","title":"Abnormal small intestinal mucosa morphology"},{"container-title":"HP:0025130","author":[{"family":"lactase deficiency"},{"family":"Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025130","type":"entry-dictionary","title":"Decreased small intestinal mucosa lactase activity"},{"container-title":"HP:0025131","author":[{"family":"swelling of fingers"},{"family":"swollen fingers"},{"family":"Enlargement of the soft tissues of one or more fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025131","type":"entry-dictionary","title":"Finger swelling"},{"container-title":"HP:0025132","author":[{"family":"abnormal circulating oestrogen level"},{"family":"abnormal estrogen level"},{"family":"A deviation from normal concentration of the hormone estrogen in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025132","type":"entry-dictionary","title":"Abnormal circulating estrogen level"},{"container-title":"HP:0025133","author":[{"family":"A deviation from normal concentrations of estradiol in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025133","type":"entry-dictionary","title":"Abnormal serum estradiol"},{"container-title":"HP:0025134","author":[{"family":"increased serum oestradiol"},{"family":"increased estradiol level"},{"family":"An elevation above normal limits of the concentration of estradiol in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025134","type":"entry-dictionary","title":"Increased serum estradiol"},{"container-title":"HP:0025135","author":[{"family":"A deviation from normal concentration of estriol in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025135","type":"entry-dictionary","title":"Abnormal serum estriol"},{"container-title":"HP:0025136","author":[{"family":"An elevation above normal limits of estriol concntration in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025136","type":"entry-dictionary","title":"Increased serum estriol"},{"container-title":"HP:0025137","author":[{"family":"A reduction below normal limits of estriol in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025137","type":"entry-dictionary","title":"Decreased serum estriol"},{"container-title":"HP:0025138","author":[{"family":"A deviation from the normal concentration of circulating estrone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025138","type":"entry-dictionary","title":"Abnormal serum estrone"},{"container-title":"HP:0025139","author":[{"family":"An elevation above normal limits of the concentration of estrone in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025139","type":"entry-dictionary","title":"Increased serum estrone"},{"container-title":"HP:0025140","author":[{"family":"A reduction below normal limits of the concentration of estrone in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025140","type":"entry-dictionary","title":"Decreased serum estrone"},{"container-title":"HP:0025141","author":[{"family":"gingival calcifications"},{"family":"Ectopic deposition of calcium salts found in the gingiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025141","type":"entry-dictionary","title":"Gingival calcification"},{"container-title":"HP:0025142","author":[{"family":"A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025142","type":"entry-dictionary","title":"Constitutional symptom"},{"container-title":"HP:0025143","author":[{"family":"chills"},{"family":"A sudden sensation of feeling cold."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025143","type":"entry-dictionary","title":"Chills"},{"container-title":"HP:0025144","author":[{"family":"shivering"},{"family":"shuddering"},{"family":"Involuntary contraction or twitching of the muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025144","type":"entry-dictionary","title":"Shivering"},{"container-title":"HP:0025145","author":[{"family":"Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025145","type":"entry-dictionary","title":"Rigors"},{"container-title":"HP:0025146","author":[{"family":"Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of theretina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025146","type":"entry-dictionary","title":"Foveal degeneration"},{"container-title":"HP:0025147","author":[{"family":"beaten metal macular appearance"},{"family":"beaten-bronze macular appearance"},{"family":"beaten-bronze macular sheen"},{"family":"A shiny appearance of the macula, which is often called a beaten bronze appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025147","type":"entry-dictionary","title":"Beaten bronze macular sheen"},{"container-title":"HP:0025148","author":[{"family":"A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025148","type":"entry-dictionary","title":"Dark choroid"},{"container-title":"HP:0025149","author":[{"family":"degenerative enteric myopathy"},{"family":"autonomic visceral myopathy"},{"family":"Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025149","type":"entry-dictionary","title":"Atrophic muscularis propria"},{"container-title":"HP:0025150","author":[{"family":"Sparse and small myenteric ganglia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025150","type":"entry-dictionary","title":"Hypoganglionosis"},{"container-title":"HP:0025151","author":[{"family":"Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025151","type":"entry-dictionary","title":"Ganglioneuromatosis"},{"container-title":"HP:0025152","author":[{"family":"abnormal visual behavior for age"},{"family":"abnormal visual behaviour for age"},{"family":"poor visual behaviour for age"},{"family":"Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behvior fails to meet normal developmental milestones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025152","type":"entry-dictionary","title":"Poor visual behavior for age"},{"container-title":"HP:0025153","author":[{"family":"Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025153","type":"entry-dictionary","title":"Transient"},{"container-title":"HP:0025154","author":[{"family":"collateral biliary circulation"},{"family":"collateral biliary veins"},{"family":"Presence of biliary veins that serve as a collateral channel to the systemic circulation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025154","type":"entry-dictionary","title":"Portosystemic collateral veins"},{"container-title":"HP:0025155","author":[{"family":"A fiunctional anomaly of the hepatobiliary system"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025155","type":"entry-dictionary","title":"Abnormality of hepatobiliary system physiology"},{"container-title":"HP:0025156","author":[{"family":"Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025156","type":"entry-dictionary","title":"Dependency on intravenous nutrition"},{"container-title":"HP:0025157","author":[{"family":"An increased concentration of sedoheptulose inthe urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025157","type":"entry-dictionary","title":"Increased urinary sedoheptulose"},{"container-title":"HP:0025158","author":[{"family":"Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025158","type":"entry-dictionary","title":"Hyperautofluorescent retinal lesion"},{"container-title":"HP:0025159","author":[{"family":"hypo-autofluorescent retinal lesion"},{"family":"Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025159","type":"entry-dictionary","title":"Hypoautofluorescent retinal lesion"},{"container-title":"HP:0025160","author":[{"family":"A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025160","type":"entry-dictionary","title":"Abnormal temper tantrums"},{"container-title":"HP:0025161","author":[{"family":"Temper tantrums that occur more frequently than usual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025161","type":"entry-dictionary","title":"Frequent temper tantrums"},{"container-title":"HP:0025162","author":[{"family":"Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025162","type":"entry-dictionary","title":"Severe temper tantrums"},{"container-title":"HP:0025163","author":[{"family":"A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025163","type":"entry-dictionary","title":"Abnormality of optic chiasm morphology"},{"container-title":"HP:0025164","author":[{"family":"An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025164","type":"entry-dictionary","title":"Increased number of elastic fibers in the dermis"},{"container-title":"HP:0025165","author":[{"family":"Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025165","type":"entry-dictionary","title":"Clumping of elastic fibers in the dermis"},{"container-title":"HP:0025166","author":[{"family":"An increase of the diameter of elastic fibers in the dermis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025166","type":"entry-dictionary","title":"Thickened elastic fibers in the dermis"},{"container-title":"HP:0025167","author":[{"family":"Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025167","type":"entry-dictionary","title":"Fragmented elastic fibers in the dermis"},{"container-title":"HP:0025168","author":[{"family":"Abnormal function of the left ventricule during left ventricular relaxation and filling."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025168","type":"entry-dictionary","title":"Left ventricular diastolic dysfunction"},{"container-title":"HP:0025169","author":[{"family":"Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025169","type":"entry-dictionary","title":"Left ventricular systolic dysfunction"},{"container-title":"HP:0025170","author":[{"family":"neuronal and mixed neuronal-glial tumor"},{"family":"glioneuronal tumor"},{"family":"A central nervous system neoplasm with neuronal and, less consistently, glial differentiation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025170","type":"entry-dictionary","title":"Neuronal\/glioneuronal neoplasm of the central nervous system"},{"container-title":"HP:0025171","author":[{"family":"rosette-forming glioneuronal tumour"},{"family":"rosette-forming glioneuronal neoplasm"},{"family":"rosette-forming glioneuronal tumor of the fourth ventricle"},{"family":"A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025171","type":"entry-dictionary","title":"Rosette-forming glioneuronal tumor"},{"container-title":"HP:0025172","author":[{"family":"Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025172","type":"entry-dictionary","title":"Smooth septal thickening on pulmonary HRCT"},{"container-title":"HP:0025173","author":[{"family":"Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025173","type":"entry-dictionary","title":"Nodular septal thickening on pulmonary HRCT"},{"container-title":"HP:0025174","author":[{"family":"Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025174","type":"entry-dictionary","title":"Irregular septal thickening on pulmonary HRCT"},{"container-title":"HP:0025175","author":[{"family":"Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025175","type":"entry-dictionary","title":"Honeycomb lung"},{"container-title":"HP:0025176","author":[{"family":"A fine reticular pattern on high-resolution computeed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025176","type":"entry-dictionary","title":"Intralobular interstitial thickening"},{"container-title":"HP:0025177","author":[{"family":"Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025177","type":"entry-dictionary","title":"Peribronchovascular interstitial thickening"},{"container-title":"HP:0025178","author":[{"family":"Increase in thickness of the subpleural interstitium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025178","type":"entry-dictionary","title":"Subpleural interstitial thickening"},{"container-title":"HP:0025179","author":[{"family":"A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025179","type":"entry-dictionary","title":"Ground-glass opacification on pulmonary HRCT"},{"container-title":"HP:0025180","author":[{"family":"centrilobular groundglass opacification"},{"family":"centrilobular groundglass opacity"},{"family":"A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025180","type":"entry-dictionary","title":"Centrilobular ground-glass opacification on pulmonary HRCT"},{"container-title":"HP:0025181","author":[{"family":"An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025181","type":"entry-dictionary","title":"Abdominal aseptic abscess"},{"container-title":"HP:0025182","author":[{"family":"A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025182","type":"entry-dictionary","title":"Localized area of pendulous skin"},{"container-title":"HP:0025186","author":[{"family":"marcus gunn jaw-winking syndrome"},{"family":"pterygoid-levator synkinesis"},{"family":"trigemino-oculomotor synkinesis"},{"family":"Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025186","type":"entry-dictionary","title":"Marcus Gunn jaw winking synkinesis"},{"container-title":"HP:0025188","author":[{"family":"Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and\/or occlusion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025188","type":"entry-dictionary","title":"Retinal vasculitis"},{"container-title":"HP:0025190","author":[{"family":"primarily generalised tonic-clonic seizures"},{"family":"primary generalised tonic-clonic seizures"},{"family":"primarily generalized tonic-clonic seizures"},{"family":"primary generalized tonic-clonic seizures"},{"family":"generalised tonic-clonic seizures without focal onset"},{"family":"A type of generalized tonic-clonic seizure that occurs in and rapidly engages bilaterally distributed networks."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025190","type":"entry-dictionary","title":"Generalized tonic-clonic seizures without focal onset"},{"container-title":"HP:0025191","author":[{"family":"Segmental myoclonic seizures"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025191","type":"entry-dictionary","title":"Segmental myoclonic seizures"},{"container-title":"HP:0025192","author":[{"family":"Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025192","type":"entry-dictionary","title":"Subtentorial periventricular white matter hyperdensity"},{"container-title":"HP:0025193","author":[{"family":"bochdalek hernia"},{"family":"A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and\/or spleen into the chest cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025193","type":"entry-dictionary","title":"Posterolateral diaphragmatic hernia"},{"container-title":"HP:0025194","author":[{"family":"morgagni hernia"},{"family":"An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025194","type":"entry-dictionary","title":"Morgagni diaphragmatic hernia"},{"container-title":"HP:0025195","author":[{"family":"central hernia"},{"family":"A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025195","type":"entry-dictionary","title":"Central diaphragmatic hernia"},{"container-title":"HP:0025196","author":[{"family":"An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025196","type":"entry-dictionary","title":"Increased total iron binding capacity"},{"container-title":"HP:0025197","author":[{"family":"digital fibrous tumor of reye"},{"family":"infantile digital fibromatosis"},{"family":"A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025197","type":"entry-dictionary","title":"Inclusion body fibromatosis"},{"container-title":"HP:0025198","author":[{"family":"A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025198","type":"entry-dictionary","title":"Inflammatory cap polyp"},{"container-title":"HP:0025200","author":[{"family":"accumulation in muscle cells of filaments composed of actin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025200","type":"entry-dictionary","title":"Muscle fiber actin filament accumulation"},{"container-title":"HP:0025201","author":[{"family":"A deviation from the normal concentration in blood of an apolipoprotin, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025201","type":"entry-dictionary","title":"Abnormal apolipoprotein level"},{"container-title":"HP:0025202","author":[{"family":"An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025202","type":"entry-dictionary","title":"Elevated apolipoprotein A-IV level"},{"container-title":"HP:0025203","author":[{"family":"palm tree sign"},{"family":"Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025203","type":"entry-dictionary","title":"Caput medusae"},{"container-title":"HP:0025204","author":[{"family":"A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025204","type":"entry-dictionary","title":"Triggered by"},{"container-title":"HP:0025205","author":[{"family":"triggered by breast feeding"},{"family":"Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025205","type":"entry-dictionary","title":"Triggered by breast feeding"},{"container-title":"HP:0025206","author":[{"family":"triggered by cold temperature"},{"family":"Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025206","type":"entry-dictionary","title":"Triggered by cold"},{"container-title":"HP:0025207","author":[{"family":"triggered by dehydration"},{"family":"Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025207","type":"entry-dictionary","title":"Triggered by dehydration"},{"container-title":"HP:0025208","author":[{"family":"triggered by carbohydrate ingestion"},{"family":"Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025208","type":"entry-dictionary","title":"Triggered by carbohydrate ingestion"},{"container-title":"HP:0025209","author":[{"family":"trigged by fruit sugar"},{"family":"Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025209","type":"entry-dictionary","title":"Triggered by fructose ingestion"},{"container-title":"HP:0025210","author":[{"family":"Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025210","type":"entry-dictionary","title":"Triggered by glucose ingestion"},{"container-title":"HP:0025211","author":[{"family":"triggered by alcohol ingestion"},{"family":"Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025211","type":"entry-dictionary","title":"Triggered by ethanol ingestion"},{"container-title":"HP:0025212","author":[{"family":"triggered by fasting"},{"family":"Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025212","type":"entry-dictionary","title":"Triggered by fasting"},{"container-title":"HP:0025213","author":[{"family":"triggered by ingestion of lactose-containing milk"},{"family":"Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025213","type":"entry-dictionary","title":"Triggered by galactose ingestion"},{"container-title":"HP:0025214","author":[{"family":"triggered by heat"},{"family":"Applies to a sign or symptom that is provoked or brought about by exposure to heat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025214","type":"entry-dictionary","title":"Triggered by heat"},{"container-title":"HP:0025215","author":[{"family":"triggered by fever"},{"family":"Applies to a sign or symptom that is provoked or brought about by febrile illness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025215","type":"entry-dictionary","title":"Triggered by febrile illness"},{"container-title":"HP:0025216","author":[{"family":"triggered by overeating"},{"family":"Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025216","type":"entry-dictionary","title":"Triggered by heavy meal"},{"container-title":"HP:0025217","author":[{"family":"triggered by high-fat diet"},{"family":"Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025217","type":"entry-dictionary","title":"Triggered by high-fat diet"},{"container-title":"HP:0025218","author":[{"family":"triggered by hyperventilation"},{"family":"Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025218","type":"entry-dictionary","title":"Triggered by hyperventilation"},{"container-title":"HP:0025219","author":[{"family":"triggered by immunization"},{"family":"triggered by vaccination"},{"family":"Applies to a sign or symptom that is provoked or brought about by a vaccination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025219","type":"entry-dictionary","title":"Triggered by vaccination"},{"container-title":"HP:0025220","author":[{"family":"triggered by monthly period"},{"family":"triggered by period"},{"family":"Applies to a sign or symptom that is provoked or brought about by menstruation in a female."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025220","type":"entry-dictionary","title":"Triggered by menstruation"},{"container-title":"HP:0025221","author":[{"family":"triggered by pregnancy"},{"family":"Applies to a sign or symptom that is provoked or brought about by pregnancy in a female."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025221","type":"entry-dictionary","title":"Triggered by pregnancy"},{"container-title":"HP:0025222","author":[{"family":"triggered by sleep deprivation"},{"family":"Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025222","type":"entry-dictionary","title":"Triggered by sleep deprivation"},{"container-title":"HP:0025223","author":[{"family":"triggered by cigarette consumption"},{"family":"triggered by smoking"},{"family":"triggered by tobacco use"},{"family":"Applies to a sign or symptom that is provoked or brought about by smoking."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025223","type":"entry-dictionary","title":"Triggered by smoking"},{"container-title":"HP:0025224","author":[{"family":"triggered by salt ingestion"},{"family":"triggered by sodium intake"},{"family":"Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025224","type":"entry-dictionary","title":"Triggered by sodium ingestion"},{"container-title":"HP:0025225","author":[{"family":"triggered by sound"},{"family":"Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025225","type":"entry-dictionary","title":"Triggered by sound"},{"container-title":"HP:0025226","author":[{"family":"triggered by stress"},{"family":"Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025226","type":"entry-dictionary","title":"Triggered by stress"},{"container-title":"HP:0025227","author":[{"family":"triggered by startle"},{"family":"triggered by excitement"},{"family":"Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025227","type":"entry-dictionary","title":"Triggered by excitement"},{"container-title":"HP:0025228","author":[{"family":"triggered by sudden movement"},{"family":"Applies to a sign or symptom that is provoked or brought about by a sudden movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025228","type":"entry-dictionary","title":"Triggered by sudden movement"},{"container-title":"HP:0025229","author":[{"family":"Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025229","type":"entry-dictionary","title":"Triggered by vestibular stimulation"},{"container-title":"HP:0025230","author":[{"family":"teninitis"},{"family":"Inflammation of a tendon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025230","type":"entry-dictionary","title":"Tendonitis"},{"container-title":"HP:0025231","author":[{"family":"A structural anomaly of a synovial bursa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025231","type":"entry-dictionary","title":"Abnormality of synovial bursa morphology"},{"container-title":"HP:0025232","author":[{"family":"Inflammation of a synovial bursa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025232","type":"entry-dictionary","title":"Bursitis"},{"container-title":"HP:0025233","author":[{"family":"An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025233","type":"entry-dictionary","title":"Sleep paralysis"},{"container-title":"HP:0025234","author":[{"family":"An undesirable physical event or experience that occur during entry into sleep, during sleep, or during arousal from sleep."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025234","type":"entry-dictionary","title":"Parasomnia"},{"container-title":"HP:0025235","author":[{"family":"nrem parasomnia"},{"family":"A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during during slow-wave sleep (ie, NREM stage 3 sleep)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025235","type":"entry-dictionary","title":"Non-rapid eye movement parasomnia"},{"container-title":"HP:0025236","author":[{"family":"sleep walking"},{"family":"Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025236","type":"entry-dictionary","title":"Somnambulism"},{"container-title":"HP:0025237","author":[{"family":"A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025237","type":"entry-dictionary","title":"Confusional arousal"},{"container-title":"HP:0025238","author":[{"family":"foot pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025238","type":"entry-dictionary","title":"Foot pain"},{"container-title":"HP:0025239","author":[{"family":"subhyaloid heme"},{"family":"A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025239","type":"entry-dictionary","title":"Subhyaloid hemorrhage"},{"container-title":"HP:0025240","author":[{"family":"preretinal heme"},{"family":"preretinal haemorrhage"},{"family":"An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025240","type":"entry-dictionary","title":"Preretinal hemorrhage"},{"container-title":"HP:0025241","author":[{"family":"feathered retinal heme"},{"family":"flame-shaped retinal haemorrhage"},{"family":"linear retina heme"},{"family":"A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025241","type":"entry-dictionary","title":"Flame-shaped retinal hemorrhage"},{"container-title":"HP:0025242","author":[{"family":"dot-and-blot retinal haemorrhage"},{"family":"round retinal heme"},{"family":"Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025242","type":"entry-dictionary","title":"Dot-and-blot retinal hemorrhage"},{"container-title":"HP:0025243","author":[{"family":"subretinal haemorrhage"},{"family":"subretinal heme"},{"family":"Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025243","type":"entry-dictionary","title":"Subretinal hemorrhage"},{"container-title":"HP:0025244","author":[{"family":"subretinal pigment epithelium haemorrhage"},{"family":"An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025244","type":"entry-dictionary","title":"Subretinal pigment epithelium hemorrhage"},{"container-title":"HP:0025245","author":[{"family":"A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025245","type":"entry-dictionary","title":"Cutaneous cyst"},{"container-title":"HP:0025246","author":[{"family":"pilar cyst"},{"family":"Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025246","type":"entry-dictionary","title":"Trichilemmal cyst"},{"container-title":"HP:0025247","author":[{"family":"A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts arenslowly progressive and can grow to a size of 1 to 4 cm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025247","type":"entry-dictionary","title":"Dermoid cyst"},{"container-title":"HP:0025248","author":[{"family":"A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish ornbrownish tinge."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025248","type":"entry-dictionary","title":"Eruptive vellus hair cyst"},{"container-title":"HP:0025249","author":[{"family":"A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025249","type":"entry-dictionary","title":"Comedo"},{"container-title":"HP:0025250","author":[{"family":"whitehead"},{"family":"A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025250","type":"entry-dictionary","title":"Closed comedo"},{"container-title":"HP:0025251","author":[{"family":"blackhead"},{"family":"A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025251","type":"entry-dictionary","title":"Open comedo"},{"container-title":"HP:0025252","author":[{"family":"glossitis areata exfoliativa"},{"family":"An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025252","type":"entry-dictionary","title":"Geographic tongue"},{"container-title":"HP:0025253","author":[{"family":"An abnormal fear of being in a closed or narrow space with no escape."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025253","type":"entry-dictionary","title":"Claustrophobia"},{"container-title":"HP:0025254","author":[{"family":"improved by"},{"family":"An ameliorating factor is defined as an external factor that leads to the manifestation of a sign or symptom in a person improving or becoming more bearable."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025254","type":"entry-dictionary","title":"Ameliorated by"},{"container-title":"HP:0025255","author":[{"family":"Applies to a sign or symptom that is improved or made more bearable by pregnancyin a female."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025255","type":"entry-dictionary","title":"Ameliorated by pregnancy"},{"container-title":"HP:0025256","author":[{"family":"Applies to a sign or symptom that is improved or made more bearable by heat (including fever)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025256","type":"entry-dictionary","title":"Ameliorated by heat"},{"container-title":"HP:0025257","author":[{"family":"Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025257","type":"entry-dictionary","title":"Ameliorated by carbohydrate ingestion"},{"container-title":"HP:0025258","author":[{"family":"neck stiffness"},{"family":"stiff neck"},{"family":"A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025258","type":"entry-dictionary","title":"Stiff neck"},{"container-title":"HP:0025259","author":[{"family":"elbow stiffness"},{"family":"stiff elbow"},{"family":"A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025259","type":"entry-dictionary","title":"Stiff elbow"},{"container-title":"HP:0025260","author":[{"family":"wrist stiffness"},{"family":"stiff wrist"},{"family":"A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025260","type":"entry-dictionary","title":"Stiff wrist"},{"container-title":"HP:0025261","author":[{"family":"finger stiffness"},{"family":"stiff finger"},{"family":"A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025261","type":"entry-dictionary","title":"Stiff finger"},{"container-title":"HP:0025262","author":[{"family":"stiff hip"},{"family":"hip stiffness"},{"family":"A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025262","type":"entry-dictionary","title":"Stiff hip"},{"container-title":"HP:0025263","author":[{"family":"knee stiffness"},{"family":"stiff knee"},{"family":"A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025263","type":"entry-dictionary","title":"Stiff knee"},{"container-title":"HP:0025264","author":[{"family":"stiff ankle"},{"family":"ankle stiffness"},{"family":"A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025264","type":"entry-dictionary","title":"Stiff ankle"},{"container-title":"HP:0025265","author":[{"family":"stiff toe"},{"family":"toe stiffness"},{"family":"A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025265","type":"entry-dictionary","title":"Stiff toe"},{"container-title":"HP:0025266","author":[{"family":"Degeneration (wear and tear) of the articular cartilage of the neck joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025266","type":"entry-dictionary","title":"Cervical osteoarthritis"},{"container-title":"HP:0025267","author":[{"family":"snoring symptoms"},{"family":"snores"},{"family":"Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025267","type":"entry-dictionary","title":"Snoring"},{"container-title":"HP:0025268","author":[{"family":"stuttering"},{"family":"stammering"},{"family":"Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025268","type":"entry-dictionary","title":"Stuttering"},{"container-title":"HP:0025269","author":[{"family":"panic attack"},{"family":"A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some indiviudals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025269","type":"entry-dictionary","title":"Panic attack"},{"container-title":"HP:0025270","author":[{"family":"functional abnormality of the esophagus"},{"family":"Any physiological abnormality of the esophagus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025270","type":"entry-dictionary","title":"Abnormality of esophagus physiology"},{"container-title":"HP:0025271","author":[{"family":"Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025271","type":"entry-dictionary","title":"Esophageal spasms"},{"container-title":"HP:0025272","author":[{"family":"facial melanosis"},{"family":"chloasma"},{"family":"Symmetrical, blotchy, brownish facial pigmentation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025272","type":"entry-dictionary","title":"Melasma"},{"container-title":"HP:0025273","author":[{"family":"Inflammation of the Achilles tendon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025273","type":"entry-dictionary","title":"Achilles tendonitis"},{"container-title":"HP:0025274","author":[{"family":"mature cystic ovarian teratoma"},{"family":"An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025274","type":"entry-dictionary","title":"Ovarian dermoid cyst"},{"container-title":"HP:0025275","author":[{"family":"Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025275","type":"entry-dictionary","title":"Lateral"},{"container-title":"HP:0025276","author":[{"family":"Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025276","type":"entry-dictionary","title":"Abnormality of skin adnexa physiology"},{"container-title":"HP:0025277","author":[{"family":"Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025277","type":"entry-dictionary","title":"Gustatory sweating"},{"container-title":"HP:0025278","author":[{"family":"Sweating provoked by cold temperature rather than by heat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025278","type":"entry-dictionary","title":"Cold-induced sweating"},{"container-title":"HP:0025279","author":[{"family":"Migratory"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025279","type":"entry-dictionary","title":"Migratory"},{"container-title":"HP:0025280","author":[{"family":"A pain characteristic is defined as a subjective catagory or type of pain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025280","type":"entry-dictionary","title":"Pain characteristic"},{"container-title":"HP:0025281","author":[{"family":"Applied to pain that is described as sharp, i.e., sudden and severe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025281","type":"entry-dictionary","title":"Sharp"},{"container-title":"HP:0025282","author":[{"family":"dull pain"},{"family":"Applied to pain that is dull, i.e., not severe but that continues over a long period of time."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025282","type":"entry-dictionary","title":"Dull"},{"container-title":"HP:0025283","author":[{"family":"Applied to pain that is tender, i.e., elicited by touching the affected body part."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025283","type":"entry-dictionary","title":"Tender"},{"container-title":"HP:0025284","author":[{"family":"Applied to pain that is wakes the affecting individual from sleep."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025284","type":"entry-dictionary","title":"Sleep-interrupting"},{"container-title":"HP:0025285","author":[{"family":"exacerbated by"},{"family":"An aggravating factor is defined as an external factor that leads to the a sign or symptom that is already present getting worse or becoming more severe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025285","type":"entry-dictionary","title":"Aggravated by"},{"container-title":"HP:0025286","author":[{"family":"aggravated by exertion"},{"family":"aggravated by exercise"},{"family":"worsened by activity"},{"family":"Applied to a sign or symptom that is aggravated by activity, exertion, or exercise."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025286","type":"entry-dictionary","title":"Aggravated by activity"},{"container-title":"HP:0025287","author":[{"family":"Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025287","type":"entry-dictionary","title":"Axial"},{"container-title":"HP:0025289","author":[{"family":"swollen lymph nodes in the neck"},{"family":"Enlarged lymph nodes in the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025289","type":"entry-dictionary","title":"Cervical lymphadenopathy"},{"container-title":"HP:0025290","author":[{"family":"Applies to an abnormality that affects the arms, trunk, head more than the legs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025290","type":"entry-dictionary","title":"Upper-body predominance"},{"container-title":"HP:0025291","author":[{"family":"Applies to an abnormality that affects the legs more than the arms, trunk, head."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025291","type":"entry-dictionary","title":"Lower-body predominance"},{"container-title":"HP:0025292","author":[{"family":"Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025292","type":"entry-dictionary","title":"Acral"},{"container-title":"HP:0025293","author":[{"family":"Applies to an abnormality whose localization corresponds to the lines of Blashko, which are thought to reflect the pathways of epidermal cell migration and proliferation during the development of the fetus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025293","type":"entry-dictionary","title":"Distributed along Blashko lines"},{"container-title":"HP:0025294","author":[{"family":"radicular"},{"family":"Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025294","type":"entry-dictionary","title":"Dermatomal"},{"container-title":"HP:0025295","author":[{"family":"Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025295","type":"entry-dictionary","title":"Herpetiform"},{"container-title":"HP:0025296","author":[{"family":"Applies to an abnormality whose distribution and appearance resemebles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025296","type":"entry-dictionary","title":"Morbilliform"},{"container-title":"HP:0025297","author":[{"family":"Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025297","type":"entry-dictionary","title":"Prolonged"},{"container-title":"HP:0025300","author":[{"family":"butterfly rash"},{"family":"cheekbone rash"},{"family":"An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025300","type":"entry-dictionary","title":"Malar rash"},{"container-title":"HP:0025301","author":[{"family":"Applies to an abnormality that occurs in or is exacerbated during the night."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025301","type":"entry-dictionary","title":"Nocturnal"},{"container-title":"HP:0025302","author":[{"family":"Applies to a sing, symptom, or other abnormality that occurs in or is exacerbated in the day time."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025302","type":"entry-dictionary","title":"Diurnal"},{"container-title":"HP:0025303","author":[{"family":"now and then"},{"family":"Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025303","type":"entry-dictionary","title":"Episodic"},{"container-title":"HP:0025304","author":[{"family":"Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025304","type":"entry-dictionary","title":"Periodic"},{"container-title":"HP:0025305","author":[{"family":"Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025305","type":"entry-dictionary","title":"Quotidian"},{"container-title":"HP:0025306","author":[{"family":"Acute appearance of disease manifestations in a period of minutes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025306","type":"entry-dictionary","title":"Acute emergence over minutes"},{"container-title":"HP:0025307","author":[{"family":"Acute appearance of disease manifestations in a period of hours."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025307","type":"entry-dictionary","title":"Acute emergence over hours"},{"container-title":"HP:0025308","author":[{"family":"Acute appearance of disease manifestations in a period of days."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025308","type":"entry-dictionary","title":"Acute emergence over days"},{"container-title":"HP:0025309","author":[{"family":"irregular pupil"},{"family":"A deviation from the normal circular shape of the pupil"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025309","type":"entry-dictionary","title":"Abnormal pupil shape"},{"container-title":"HP:0025310","author":[{"family":"An abnormal pupil shape that is elliptical, i.e., egg-like."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025310","type":"entry-dictionary","title":"Oval pupil"},{"container-title":"HP:0025311","author":[{"family":"A closed sac, having a distinct membrane and division compared to the nearby tissue. located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025311","type":"entry-dictionary","title":"Anterior chamber cyst"},{"container-title":"HP:0025312","author":[{"family":"A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025312","type":"entry-dictionary","title":"Esophoria"},{"container-title":"HP:0025313","author":[{"family":"A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025313","type":"entry-dictionary","title":"Exophoria"},{"container-title":"HP:0025314","author":[{"family":"A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025314","type":"entry-dictionary","title":"Choroidal nevus"},{"container-title":"HP:0025315","author":[{"family":"Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025315","type":"entry-dictionary","title":"Exacerbated by head trauma"},{"container-title":"HP:0025317","author":[{"family":"A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025317","type":"entry-dictionary","title":"Cubitus varus"},{"container-title":"HP:0025318","author":[{"family":"ovarian epithelial cancer"},{"family":"A malignant neoplasm originating from the surface ovarian epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025318","type":"entry-dictionary","title":"Ovarian carcinoma"},{"container-title":"HP:0025319","author":[{"family":"neovascularization of the iris"},{"family":"Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025319","type":"entry-dictionary","title":"Rubeosis iridis"},{"container-title":"HP:0025320","author":[{"family":"fluorescein leakage"},{"family":"Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025320","type":"entry-dictionary","title":"Leakage of dye on fundus fluorescein angiography"},{"container-title":"HP:0025321","author":[{"family":"liver copper accumulation"},{"family":"An anomalous build up of copper (Cu) in the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025321","type":"entry-dictionary","title":"Copper accumulation in liver"},{"container-title":"HP:0025322","author":[{"family":"Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025322","type":"entry-dictionary","title":"Venous occlusion"},{"container-title":"HP:0025323","author":[{"family":"An anomaly of arterial function."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025323","type":"entry-dictionary","title":"Abnormal arterial physiology"},{"container-title":"HP:0025324","author":[{"family":"Blockage of blood flow through an artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025324","type":"entry-dictionary","title":"Arterial occlusion"},{"container-title":"HP:0025325","author":[{"family":"medial thinning of eyebrow"},{"family":"Decreased density\/number and\/or decreased diameter of medial eyebrow hairs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025325","type":"entry-dictionary","title":"Sparse medial eyebrow"},{"container-title":"HP:0025326","author":[{"family":"retinal artery occlusion"},{"family":"Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025326","type":"entry-dictionary","title":"Retinal arterial occlusion"},{"container-title":"HP:0025327","author":[{"family":"Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025327","type":"entry-dictionary","title":"Decreased renal parenchymal thickness"},{"container-title":"HP:0025328","author":[{"family":"antepartum haemorrhage"},{"family":"prepartum haemorrhage"},{"family":"prepartum hemorrhage"},{"family":"Significant maternal hemorrhage\/bleed in the second half of pregnancy and prior to the birth of the baby."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025328","type":"entry-dictionary","title":"Antepartum hemorrhage"},{"container-title":"HP:0025329","author":[{"family":"anti-gad antibody positivity"},{"family":"The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025329","type":"entry-dictionary","title":"Anti-glutamic acid decarboxylase antibody positivity"},{"container-title":"HP:0025330","author":[{"family":"supranuclear downgaze palsy"},{"family":"downgaze paresis"},{"family":"A limitation of the ability to direct one's gaze below the horizontal meridian."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025330","type":"entry-dictionary","title":"Downgaze palsy"},{"container-title":"HP:0025331","author":[{"family":"upgaze paresis"},{"family":"supranuclear upgaze plasy"},{"family":"A limitation of the ability to direct one's gaze above the horizontal meridian."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025331","type":"entry-dictionary","title":"Upgaze palsy"},{"container-title":"HP:0025332","author":[{"family":"abnormality of the cortex of foot bones"},{"family":"An anomaly of the outer shell (cortex) of a foot bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025332","type":"entry-dictionary","title":"Abnormality of foot cortical bone"},{"container-title":"HP:0025333","author":[{"family":"A reduction in the thickness of the outer shell (cortex) of foot bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025333","type":"entry-dictionary","title":"Cortical thinning of foot bones"},{"container-title":"HP:0025334","author":[{"family":"Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025334","type":"entry-dictionary","title":"Triggered by emotion"},{"container-title":"HP:0025335","author":[{"family":"A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025335","type":"entry-dictionary","title":"Delayed ability to stand"},{"container-title":"HP:0025336","author":[{"family":"A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025336","type":"entry-dictionary","title":"Delayed ability to sit"},{"container-title":"HP:0025337","author":[{"family":"A reddish appearance over the white part (sclera) of the eye ranging from a a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025337","type":"entry-dictionary","title":"Red eye"},{"container-title":"HP:0025338","author":[{"family":"ciliary limbus"},{"family":"circumlimbal hyperaemia"},{"family":"A ring of redness at the limbus of the eye, the border between the cornea and the sclera."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025338","type":"entry-dictionary","title":"Circumlimbal hyperemia"},{"container-title":"HP:0025339","author":[{"family":"superficial episcleral hypaeremia"},{"family":"Prominence of blood vessels of the superficial episcleral tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025339","type":"entry-dictionary","title":"Superficial episcleral hyperemia"},{"container-title":"HP:0025340","author":[{"family":"deep episcleral hyperaemia"},{"family":"Prominence of blood vessels of the deep episcleral tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025340","type":"entry-dictionary","title":"Deep episcleral hyperemia"},{"container-title":"HP:0025341","author":[{"family":"An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025341","type":"entry-dictionary","title":"Corneal keratic precipitates"},{"container-title":"HP:0025342","author":[{"family":"Blockage of blood flow in the central retinal artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025342","type":"entry-dictionary","title":"Central retinal artery occlusion"},{"container-title":"HP:0025343","author":[{"family":"Presence of lupus anticoagulant (LA) autoantiboides. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025343","type":"entry-dictionary","title":"Lupus anticoagulant"},{"container-title":"HP:0025344","author":[{"family":"Damage to and and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025344","type":"entry-dictionary","title":"Interlobular bile duct destruction"},{"container-title":"HP:0025345","author":[{"family":"abnormality of circulating beta2 microglobulin level"},{"family":"abnormality of circulating b2m level"},{"family":"abnormality of circulating beta2-m level"},{"family":"abnormality of circulating beta2m level"},{"family":"A deviation from the normal concentration of beta-2-microglobulin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025345","type":"entry-dictionary","title":"Abnormality of circulating beta-2-microglobulin level"},{"container-title":"HP:0025346","author":[{"family":"elevated circulating beta-2-microglobulin level"},{"family":"Elevated concentration of beta-2-microglobulin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025346","type":"entry-dictionary","title":"Increased circulating beta-2-microglobulin level"},{"container-title":"HP:0025347","author":[{"family":"reduced circulating beta-2-microglobulin level"},{"family":"Reduced concentration of beta-2-microglobulin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025347","type":"entry-dictionary","title":"Decreased circulating beta-2-microglobulin level"},{"container-title":"HP:0025348","author":[{"family":"An anomaly of the margin of the cornea overlapped by the sclera."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025348","type":"entry-dictionary","title":"Abnormality of the corneal limbus"},{"container-title":"HP:0025349","author":[{"family":"Swelling of the margin of the cornea overlapped by the sclera."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025349","type":"entry-dictionary","title":"Limbal edema"},{"container-title":"HP:0025350","author":[{"family":"Conjunctival papillae with a diameter Giant papillae greater than 1 millimeter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025350","type":"entry-dictionary","title":"Giant conjunctival papillae"},{"container-title":"HP:0025351","author":[{"family":"recurrent interdigital tinea"},{"family":"A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025351","type":"entry-dictionary","title":"Recurrent interdigital mycosis"},{"container-title":"HP:0025352","author":[{"family":"Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025352","type":"entry-dictionary","title":"Autosomal dominant germline de novo mutation"},{"container-title":"HP:0025353","author":[{"family":"anti-mnd antibodies"},{"family":"A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025353","type":"entry-dictionary","title":"Anti-multiple nuclear dots antibody positivity"},{"container-title":"HP:0025354","author":[{"family":"An anomaly of cellular morphology or physiology."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025354","type":"entry-dictionary","title":"Abnormal cellular phenotype"},{"container-title":"HP:0025355","author":[{"family":"Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generallyu located at the termporal retina and may be hemorrhagic or exudative."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025355","type":"entry-dictionary","title":"Retinal arterial macroaneurysms"},{"container-title":"HP:0025356","author":[{"family":"Pschomotor retardation"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025356","type":"entry-dictionary","title":"Pschomotor retardation"},{"container-title":"HP:0025357","author":[{"family":"fragmentary myoclonus"},{"family":"A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025357","type":"entry-dictionary","title":"Erratic myoclonus"},{"container-title":"HP:0025358","author":[{"family":"ectropion uveae"},{"family":"Presence of iris pigment epithelium on the anterior surface of the iris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025358","type":"entry-dictionary","title":"Uveal ectropion"},{"container-title":"HP:0025359","author":[{"family":"polygonal-shaped calices"},{"family":"polygonal calices"},{"family":"An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025359","type":"entry-dictionary","title":"Polygonal renal calices"},{"container-title":"HP:0025360","author":[{"family":"Increased number of calices of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025360","type":"entry-dictionary","title":"Polycalycosis"},{"container-title":"HP:0025361","author":[{"family":"A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025361","type":"entry-dictionary","title":"Abnormality of medullary pyramid morphology"},{"container-title":"HP:0025362","author":[{"family":"hypoplasia of the medullary pyramids"},{"family":"Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025362","type":"entry-dictionary","title":"Renal medullary pyramid hypoplasia"},{"container-title":"HP:0025363","author":[{"family":"Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025363","type":"entry-dictionary","title":"Endocapillary hypercellularity"},{"container-title":"HP:0025364","author":[{"family":"extracapillary glomerular hypercellularity"},{"family":"Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025364","type":"entry-dictionary","title":"Extracapillary hypercellularity"},{"container-title":"HP:0025367","author":[{"family":"A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025367","type":"entry-dictionary","title":"Trichoepithelioma"},{"container-title":"HP:0025368","author":[{"family":"A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025368","type":"entry-dictionary","title":"Abnormality of growth plate morphology"},{"container-title":"HP:0025369","author":[{"family":"Increased thickness (dimension along the axis of the bone) of the growth plate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025369","type":"entry-dictionary","title":"Thick growth plates"},{"container-title":"HP:0025370","author":[{"family":"Abnormal bone tissue formation (ossification) affecting the sacrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025370","type":"entry-dictionary","title":"Abnormal ossification of the sacrum"},{"container-title":"HP:0025371","author":[{"family":"Formation of the sacrum bone tissue occurs later than age-adjusted norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025371","type":"entry-dictionary","title":"Delayed ossification of the sacrum"},{"container-title":"HP:0025372","author":[{"family":"has loud snoring"},{"family":"have loud snoring"},{"family":"snores loudly"},{"family":"heavy snoring"},{"family":"Particularly loud snoring, snoring at high volume."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025372","type":"entry-dictionary","title":"Loud snoring"},{"container-title":"HP:0025373","author":[{"family":"Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025373","type":"entry-dictionary","title":"Interictal EEG abnormality"},{"container-title":"HP:0025374","author":[{"family":"The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vetebral body around which the first vertebra rotates."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025374","type":"entry-dictionary","title":"Duplicated odontoid process"},{"container-title":"HP:0025375","author":[{"family":"Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025375","type":"entry-dictionary","title":"Orthotopic os odontoideum"},{"container-title":"HP:0025376","author":[{"family":"An increased concentration of glutamine in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025376","type":"entry-dictionary","title":"Hyperglutaminuria"},{"container-title":"HP:0025377","author":[{"family":"triggered by physical exercise"},{"family":"Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025377","type":"entry-dictionary","title":"Triggered by exertion"},{"container-title":"HP:0025379","author":[{"family":"The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025379","type":"entry-dictionary","title":"Anti-thyroid peroxidase antibody positivity"},{"container-title":"HP:0025380","author":[{"family":"Increased level of circulating 4-androstenedione."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025380","type":"entry-dictionary","title":"Increased serum androstenedione"},{"container-title":"HP:0025381","author":[{"family":"Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025381","type":"entry-dictionary","title":"Anti-pituitary antibody positivity"},{"container-title":"HP:0025382","author":[{"family":"Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025382","type":"entry-dictionary","title":"Hypodipsia"},{"container-title":"HP:0025383","author":[{"family":"buffalo hump"},{"family":"An area of fat accumulation at the backof the next in the form of a hump."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025383","type":"entry-dictionary","title":"Dorsocervical fat pad"},{"container-title":"HP:0025384","author":[{"family":"Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025384","type":"entry-dictionary","title":"Diet-resistant subcutaneous adipose tissue"},{"container-title":"HP:0025385","author":[{"family":"Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025385","type":"entry-dictionary","title":"Diet-resistant subcutaneous adipose tissue below waist"},{"container-title":"HP:0025386","author":[{"family":"Depression of profile in both temporal regions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025386","type":"entry-dictionary","title":"Bitemporal hollowing"},{"container-title":"HP:0025387","author":[{"family":"pill rolling"},{"family":"A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025387","type":"entry-dictionary","title":"Pill-rolling tremor"},{"container-title":"HP:0025388","author":[{"family":"A nodular lesion that develops in the thyroid gland. The term \"thyroid nodule\" refers to any abnormal growth that forms a lump in the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025388","type":"entry-dictionary","title":"Thyroid nodule"},{"container-title":"HP:0025389","author":[{"family":"pulmonary interstitiatial hrct abnormality"},{"family":"High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025389","type":"entry-dictionary","title":"Pulmonary interstitial high-resolution computed tomography abnormality"},{"container-title":"HP:0025390","author":[{"family":"On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025390","type":"entry-dictionary","title":"Reticular pattern on pulmonary HRCT"},{"container-title":"HP:0025391","author":[{"family":"The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025391","type":"entry-dictionary","title":"Crazy paving pattern on pulmonary HRCT"},{"container-title":"HP:0025392","author":[{"family":"A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025392","type":"entry-dictionary","title":"Nodular pattern on pulmonary HRCT"},{"container-title":"HP:0025393","author":[{"family":"Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025393","type":"entry-dictionary","title":"Reticulonodular pattern on pulmonary HRCT"},{"container-title":"HP:0025394","author":[{"family":"On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025394","type":"entry-dictionary","title":"Cystic pattern on pulmonary HRCT"},{"container-title":"HP:0025395","author":[{"family":"Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025395","type":"entry-dictionary","title":"Combined cystic and ground-glass pattern on pulmonary HRCT"},{"container-title":"HP:0025396","author":[{"family":"black lung pattern on pulmonary hrct"},{"family":"Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025396","type":"entry-dictionary","title":"Decreased attenuation pattern on pulmonary HRCT"},{"container-title":"HP:0025397","author":[{"family":"A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025397","type":"entry-dictionary","title":"Mosaic attenuation pattern on pulmonary HRCT"},{"container-title":"HP:0025398","author":[{"family":"A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025398","type":"entry-dictionary","title":"Nodular-perilymphatic pattern on pulmonary HRCT"},{"container-title":"HP:0025399","author":[{"family":"A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025399","type":"entry-dictionary","title":"Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT"},{"container-title":"HP:0025400","author":[{"family":"A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025400","type":"entry-dictionary","title":"Nodular-random pattern on pulmonary HRCT"},{"container-title":"HP:0025401","author":[{"family":"staring eyes"},{"family":"An abnormality in which the eyes are held permanently wide open."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025401","type":"entry-dictionary","title":"Staring gaze"},{"container-title":"HP:0025402","author":[{"family":"Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025402","type":"entry-dictionary","title":"Square-wave jerks"},{"container-title":"HP:0025403","author":[{"family":"A habitual positioning of the body with the head and upper back bent forward."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025403","type":"entry-dictionary","title":"Stooped posture"},{"container-title":"HP:0025404","author":[{"family":"Any anomaly in the process of occular fixation, which is the maintaining of the visual gaze on a single location."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025404","type":"entry-dictionary","title":"Abnormal visual fixation"},{"container-title":"HP:0025405","author":[{"family":"instability of ocular fixation"},{"family":"A deficit in the ability to fixate eye movements in order to stabilize images on the retina"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025405","type":"entry-dictionary","title":"Visual fixation instability"},{"container-title":"HP:0025406","author":[{"family":"A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025406","type":"entry-dictionary","title":"Asthenia"},{"container-title":"HP:0025407","author":[{"family":"urethrorectal fistula"},{"family":"An abnormal connection (fistula) between the rectum and the urethra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025407","type":"entry-dictionary","title":"Rectourethral fistula"},{"container-title":"HP:0025408","author":[{"family":"Any anomaly of the structure of the spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025408","type":"entry-dictionary","title":"Abnormal spleen morphology"},{"container-title":"HP:0025409","author":[{"family":"Any anomaly of the function of the spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025409","type":"entry-dictionary","title":"Abnormal spleen physiology"},{"container-title":"HP:0025410","author":[{"family":"Joining of the spleen and a gonad during embryological development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025410","type":"entry-dictionary","title":"Splenogonadal fusion"},{"container-title":"HP:0025413","author":[{"family":"A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025413","type":"entry-dictionary","title":"Fossa navicularis urethral stricture"},{"container-title":"HP:0025414","author":[{"family":"A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025414","type":"entry-dictionary","title":"Pendulous urethral stricture"},{"container-title":"HP:0025415","author":[{"family":"A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025415","type":"entry-dictionary","title":"Bulbar urethral stricture"},{"container-title":"HP:0025416","author":[{"family":"A narrowing of the vagina owing to scar formation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025416","type":"entry-dictionary","title":"Vaginal stricture"},{"container-title":"HP:0025417","author":[{"family":"Urethra more open or expanded than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025417","type":"entry-dictionary","title":"Patulous urethra"},{"container-title":"HP:0025418","author":[{"family":"necrosis of the kidney cortex"},{"family":"Death of tissue in the outer part of the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025418","type":"entry-dictionary","title":"Renal cortical necrosis"},{"container-title":"HP:0025419","author":[{"family":"pulmonary pneumatocoele"},{"family":"An air-filled cystic space within a lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025419","type":"entry-dictionary","title":"Pulmonary pneumatocele"},{"container-title":"HP:0025420","author":[{"family":"diffuse alveolar haemorrhage"},{"family":"A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025420","type":"entry-dictionary","title":"Diffuse alveolar hemorrhage"},{"container-title":"HP:0025421","author":[{"family":"The presence of free air in the mediastinum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025421","type":"entry-dictionary","title":"Pneumomediastinum"},{"container-title":"HP:0025422","author":[{"family":"A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025422","type":"entry-dictionary","title":"Pleural cyst"},{"container-title":"HP:0025423","author":[{"family":"Any anomaly of the structure of the larynx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025423","type":"entry-dictionary","title":"Abnormal larynx morphology"},{"container-title":"HP:0025424","author":[{"family":"Any anomaly of the function of the larynx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025424","type":"entry-dictionary","title":"Abnormal larynx physiology"},{"container-title":"HP:0025425","author":[{"family":"A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025425","type":"entry-dictionary","title":"Laryngospasm"},{"container-title":"HP:0025426","author":[{"family":"abnormality of the bronchi"},{"family":"Any anomaly of the function of the bronchi."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025426","type":"entry-dictionary","title":"Abnormal bronchus morphology"},{"container-title":"HP:0025427","author":[{"family":"Any anomaly of the function of the bronchi."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025427","type":"entry-dictionary","title":"Abnormal bronchus physiology"},{"container-title":"HP:0025428","author":[{"family":"A spasm (sudden, involuntary constriction) of the bronchioles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025428","type":"entry-dictionary","title":"Bronchospasm"},{"container-title":"HP:0025429","author":[{"family":"Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025429","type":"entry-dictionary","title":"Abnormal cry"},{"container-title":"HP:0025430","author":[{"family":"A type of crying in an abnormally high-pitched voice."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025430","type":"entry-dictionary","title":"High-pitched cry"},{"container-title":"HP:0025431","author":[{"family":"A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025431","type":"entry-dictionary","title":"Staccato cry"},{"container-title":"HP:0025432","author":[{"family":"A benign epithelial skin tumor manifesting as a slightly elevant circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025432","type":"entry-dictionary","title":"Acanthoma"},{"container-title":"HP:0025433","author":[{"family":"Reduced activity of the enzyme lecithin cholesterol acyl transferase."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025433","type":"entry-dictionary","title":"Decreased lecithin cholesterol acyl transferase activity"},{"container-title":"HP:0025434","author":[{"family":"A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025434","type":"entry-dictionary","title":"Reduced hemolytic complement activity"},{"container-title":"HP:0025435","author":[{"family":"An elevated activity of the enzyme lactate dehydrogenase in serum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025435","type":"entry-dictionary","title":"Increased lactate dehydrogenase activity"},{"container-title":"HP:0025436","author":[{"family":"elevated serum 21-hydroxyprogesterone"},{"family":"elevated serum deoxycorticosterone"},{"family":"Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025436","type":"entry-dictionary","title":"Elevated serum 11-deoxycortisol"},{"container-title":"HP:0025437","author":[{"family":"Increased size of the head of sperm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025437","type":"entry-dictionary","title":"Macrocephalic sperm head"},{"container-title":"HP:0025439","author":[{"family":"swollen throat"},{"family":"Inflammation (due to infection or irritation) of the pharynx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025439","type":"entry-dictionary","title":"Pharyngitis"},{"container-title":"HP:0025440","author":[{"family":"Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025440","type":"entry-dictionary","title":"Warm reactive autoantibody positivity"},{"container-title":"HP:0025441","author":[{"family":"calcification of the achilles tendon"},{"family":"Ectopic deposition of calcium salts in the Achilles tendon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025441","type":"entry-dictionary","title":"Achilles tendon calcification"},{"container-title":"HP:0025443","author":[{"family":"An abnormality of the function of the cardiac atria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025443","type":"entry-dictionary","title":"Abnormal cardiac atrial physiology"},{"container-title":"HP:0025444","author":[{"family":"decrease in amygdala volume"},{"family":"A decrease in the volume (size) of the amygdyla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025444","type":"entry-dictionary","title":"Reduced amygdala volume"},{"container-title":"HP:0025445","author":[{"family":"Any structural anomaly of the papillary muscles of the left ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025445","type":"entry-dictionary","title":"Morphological abnormality of the papillary muscles"},{"container-title":"HP:0025446","author":[{"family":"A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025446","type":"entry-dictionary","title":"Anomalous insertion of papillary muscle directly into anterior mitral leaflet"},{"container-title":"HP:0025447","author":[{"family":"Abnormal location of the insertion of a papillary muscle into the left ventricular wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025447","type":"entry-dictionary","title":"Displacement of the papillary muscles"},{"container-title":"HP:0025448","author":[{"family":"anteriorly displaced papillary muscles"},{"family":"Abnormally anterior location of the papillary muscles of the left ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025448","type":"entry-dictionary","title":"Anterior displacement of the papillary muscles"},{"container-title":"HP:0025449","author":[{"family":"apically displaced papillary muscles"},{"family":"Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025449","type":"entry-dictionary","title":"Apically displaced anterolateral papillary muscle"},{"container-title":"HP:0025451","author":[{"family":"Testicular adrenal rest tumor (TART) isa abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025451","type":"entry-dictionary","title":"Testicular adrenal rest tumor"},{"container-title":"HP:0025452","author":[{"family":"A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025452","type":"entry-dictionary","title":"Pyoderma gangrenosum"},{"container-title":"HP:0025453","author":[{"family":"Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025453","type":"entry-dictionary","title":"Delayed adrenarche"},{"container-title":"HP:0025454","author":[{"family":"Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025454","type":"entry-dictionary","title":"Abnormal CSF metabolite level"},{"container-title":"HP:0025455","author":[{"family":"decreased csf 5-hiaa"},{"family":"low csf 5-hiaa"},{"family":"low csf 5-hydroxyindolacetic acid"},{"family":"CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025455","type":"entry-dictionary","title":"Decreased CSF 5-hydroxyindolacetic acid"},{"container-title":"HP:0025456","author":[{"family":"Any deviation from the normal range of a protein concentration in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025456","type":"entry-dictionary","title":"Abnormal CSF protein level"},{"container-title":"HP:0025457","author":[{"family":"low csf total protein"},{"family":"decreased cerebrospinal fluid total protein"},{"family":"CSF total protein level is below the lower limit of normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025457","type":"entry-dictionary","title":"Decreased CSF total protein"},{"container-title":"HP:0025458","author":[{"family":"low csf albumin"},{"family":"csf albumin level is below the lower limit of normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025458","type":"entry-dictionary","title":"Decreased CSF albumin"},{"container-title":"HP:0025459","author":[{"family":"An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025459","type":"entry-dictionary","title":"Increased CSF\/serum albumin ratio"},{"container-title":"HP:0025460","author":[{"family":"high myo-inositol in brain by mrs"},{"family":"An elveated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025460","type":"entry-dictionary","title":"High myoinositol in brain by MRS"},{"container-title":"HP:0025461","author":[{"family":"Any anomaly of cell structure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025461","type":"entry-dictionary","title":"Abnormal cell morphology"},{"container-title":"HP:0025462","author":[{"family":"Any anomaly of cellular function."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025462","type":"entry-dictionary","title":"Abnormal cellular physiology"},{"container-title":"HP:0025463","author":[{"family":"An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025463","type":"entry-dictionary","title":"Abnormality of redox activity"},{"container-title":"HP:0025464","author":[{"family":"increased ros production"},{"family":"oxidative stress"},{"family":"An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025464","type":"entry-dictionary","title":"Increased reactive oxygen species production"},{"container-title":"HP:0025465","author":[{"family":"A deviation from the normal conentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025465","type":"entry-dictionary","title":"Abnormal circulating beta globulin level"},{"container-title":"HP:0025466","author":[{"family":"Increased level of beta 2-microglobulins in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025466","type":"entry-dictionary","title":"Beta 2-microglobulinuria"},{"container-title":"HP:0025469","author":[{"family":"An abnormal loss of anagen (growth phase) hairs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025469","type":"entry-dictionary","title":"Anagen effluvium"},{"container-title":"HP:0025470","author":[{"family":"A type of hair loss characterized by an abnormal increase ncrease in dormant, telogen stage hair follicles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025470","type":"entry-dictionary","title":"Telogen effluvium"},{"container-title":"HP:0025471","author":[{"family":"A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025471","type":"entry-dictionary","title":"Congenital panfollicular nevus"},{"container-title":"HP:0025472","author":[{"family":"A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025472","type":"entry-dictionary","title":"Recurrent plantar mycosis"},{"container-title":"HP:0025473","author":[{"family":"A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025473","type":"entry-dictionary","title":"Hyperpigmented papule"},{"container-title":"HP:0025474","author":[{"family":"violaceous plaque"},{"family":"A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025474","type":"entry-dictionary","title":"Erythematous plaque"},{"container-title":"HP:0025475","author":[{"family":"A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025475","type":"entry-dictionary","title":"Erythematous macule"},{"container-title":"HP:0025476","author":[{"family":"Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025476","type":"entry-dictionary","title":"Testicular lipomatosis"},{"container-title":"HP:0025477","author":[{"family":"Calcified deposits in soft tissue structures outside a joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025477","type":"entry-dictionary","title":"Periarticular calcification"},{"container-title":"HP:0025478","author":[{"family":"silent atrium"},{"family":"Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025478","type":"entry-dictionary","title":"Atrial standstill"},{"container-title":"HP:0025479","author":[{"family":"Negelcting one's own needs and well-being."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025479","type":"entry-dictionary","title":"Self-neglect"},{"container-title":"HP:0025480","author":[{"family":"A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025480","type":"entry-dictionary","title":"Lipomyelomeningocele"},{"container-title":"HP:0025481","author":[{"family":"Absence of one half of the vertebral body in the cervical spine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025481","type":"entry-dictionary","title":"Cervical hemivertebrae"},{"container-title":"HP:0025482","author":[{"family":"An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate dischanrge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025482","type":"entry-dictionary","title":"Positive perchlorate discharge test"},{"container-title":"HP:0025483","author":[{"family":"A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025483","type":"entry-dictionary","title":"Abnormal circulating thyroglobulin level"},{"container-title":"HP:0025484","author":[{"family":"An abnormal elevant of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025484","type":"entry-dictionary","title":"Increased circulating thyroglobulin level"},{"container-title":"HP:0025485","author":[{"family":"Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025485","type":"entry-dictionary","title":"Vaginal adenosis"},{"container-title":"HP:0025486","author":[{"family":"The outer labia are sealed together."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025486","type":"entry-dictionary","title":"Fused labia majora"},{"container-title":"HP:0025487","author":[{"family":"Any structural anomaly of the bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025487","type":"entry-dictionary","title":"Abnormality of bladder morphology"},{"container-title":"HP:0025488","author":[{"family":"A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025488","type":"entry-dictionary","title":"Detrusor sphincter dyssynergia"},{"container-title":"HP:0025489","author":[{"family":"A congenital anomaly characterized by the presence of two bladders."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025489","type":"entry-dictionary","title":"Bladder duplication"},{"container-title":"HP:0025490","author":[{"family":"intramyocardial coronary artery course"},{"family":"A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025490","type":"entry-dictionary","title":"Myocardial bridging"},{"container-title":"HP:0025491","author":[{"family":"Narrowing of a vein due to intimal hyperplasia and fibrosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025491","type":"entry-dictionary","title":"Venous stenosis"},{"container-title":"HP:0025492","author":[{"family":"A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025492","type":"entry-dictionary","title":"Microcoria"},{"container-title":"HP:0025493","author":[{"family":"Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025493","type":"entry-dictionary","title":"Palmoplantar erythema"},{"container-title":"HP:0025494","author":[{"family":"Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025494","type":"entry-dictionary","title":"Coated aorta"},{"container-title":"HP:0025495","author":[{"family":"Underdevelopment of a large segment of the thoracic and the abdominal aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025495","type":"entry-dictionary","title":"Hypoplastic aorta"},{"container-title":"HP:0025496","author":[{"family":"Any anomaly of the function of a coronary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025496","type":"entry-dictionary","title":"Abnormal coronary artery physiology"},{"container-title":"HP:0025497","author":[{"family":"coronary artery vasospasm"},{"family":"A brief and sudden narrowing of a coronary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025497","type":"entry-dictionary","title":"Coronary artery spasm"},{"container-title":"HP:0025498","author":[{"family":"aceruloplasminaemia"},{"family":"Absence of ceruloplasmin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025498","type":"entry-dictionary","title":"Aceruloplasminemia"},{"container-title":"HP:0025499","author":[{"family":"obesity grade 1"},{"family":"Obesity with a body mass index of 30 to 34.9 kg per square meter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025499","type":"entry-dictionary","title":"Class I obesity"},{"container-title":"HP:0025500","author":[{"family":"obesity grade 2"},{"family":"Obesity with a body mass index of 35 to 39.9 kg per square meter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025500","type":"entry-dictionary","title":"Class II obesity"},{"container-title":"HP:0025501","author":[{"family":"obesity grade 3"},{"family":"Obesity with a body mass index of 40 kg per square meter or higher."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025501","type":"entry-dictionary","title":"Class III obesity"},{"container-title":"HP:0025502","author":[{"family":"Increased body weight with a body mass index of 25-29.9 kg per square meter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025502","type":"entry-dictionary","title":"Overweight"},{"container-title":"HP:0025503","author":[{"family":"Origin of the right coronary artery (RCA) from the left sinus of Valsalva orof the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025503","type":"entry-dictionary","title":"Anomalous coronary artery arising from the opposite sinus"},{"container-title":"HP:0025505","author":[{"family":"The circumflex coronary artery originates from the right aortic sinus of Valsalva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025505","type":"entry-dictionary","title":"Anomalous origin of the circumflex artery from the right sinus of Valsalva"},{"container-title":"HP:0025506","author":[{"family":"anomalous coronary artery with aortic origin and course between the great arteries"},{"family":"Origin of the right coronary artery (RCA) from the left sinus of Valsalva orof the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025506","type":"entry-dictionary","title":"Coronary artery sandwich anomaly"},{"container-title":"HP:0025507","author":[{"family":"yellow-orange papule"},{"family":"A papule with yellow color."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025507","type":"entry-dictionary","title":"Yellow papule"},{"container-title":"HP:0025508","author":[{"family":"gottron papules"},{"family":"Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025508","type":"entry-dictionary","title":"Gottron's papules"},{"container-title":"HP:0025509","author":[{"family":"Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025509","type":"entry-dictionary","title":"Piezogenic pedal papules"},{"container-title":"HP:0025510","author":[{"family":"speckled lentiginous nevus"},{"family":"A tan, regularly bordered patch with darker macules within the lesion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025510","type":"entry-dictionary","title":"Nevus spillus"},{"container-title":"HP:0025511","author":[{"family":"A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025511","type":"entry-dictionary","title":"Nevus sebaceus"},{"container-title":"HP:0025512","author":[{"family":"flesh-colored papule"},{"family":"A papule with the same color as the surrounding skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025512","type":"entry-dictionary","title":"Skin-colored papule"},{"container-title":"HP:0025513","author":[{"family":"Breakage of the sclera."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025513","type":"entry-dictionary","title":"Scleral rupture"},{"container-title":"HP:0025514","author":[{"family":"morning glory disc anomaly"},{"family":"morning glory optic disc"},{"family":"An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025514","type":"entry-dictionary","title":"Morning glory anomaly"},{"container-title":"HP:0025515","author":[{"family":"Later than normal development of the breasts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025515","type":"entry-dictionary","title":"Delayed thelarche"},{"container-title":"HP:0025516","author":[{"family":"A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025516","type":"entry-dictionary","title":"Coronary-pulmonary artery fistula"},{"container-title":"HP:0025517","author":[{"family":"Underdevelopment of the hippocampus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025517","type":"entry-dictionary","title":"Hypoplastic hippocampus"},{"container-title":"HP:0025518","author":[{"family":"An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025518","type":"entry-dictionary","title":"Visual gaze preference"},{"container-title":"HP:0025519","author":[{"family":"multiple bile duct hamartomas"},{"family":"von meyenburg complexes"},{"family":"biliary hamartoma"},{"family":"Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025519","type":"entry-dictionary","title":"Multiple biliary hamartomas"},{"container-title":"HP:0025520","author":[{"family":"cutaneous calcification"},{"family":"Deposition of calcium in the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025520","type":"entry-dictionary","title":"Calcinosis cutis"},{"container-title":"HP:0025521","author":[{"family":"The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025521","type":"entry-dictionary","title":"Increased body fat percentage"},{"container-title":"HP:0025522","author":[{"family":"Abnormal increased in length of the chordae tendinae of the mitral valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025522","type":"entry-dictionary","title":"Elongated chordae tendinae of the mitral valve"},{"container-title":"HP:0025523","author":[{"family":"A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025523","type":"entry-dictionary","title":"Abnormal morphology of the chordae tendinae of the mitral valve"},{"container-title":"HP:0025524","author":[{"family":"palmoplantar psoriasis"},{"family":"Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025524","type":"entry-dictionary","title":"Palmoplantar scaling skin"},{"container-title":"HP:0025525","author":[{"family":"Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025525","type":"entry-dictionary","title":"Scaling skin on fingertip"},{"container-title":"HP:0025526","author":[{"family":"erythematosquamous plaque"},{"family":"erythemato-squamous plaque"},{"family":"psoriatic-like lesion"},{"family":"A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025526","type":"entry-dictionary","title":"Psoriasiform lesion"},{"container-title":"HP:0025527","author":[{"family":"serpiginous eruption"},{"family":"A skin lesion with a snake- or serpent-like distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025527","type":"entry-dictionary","title":"Serpiginous cutaneous lesion"},{"container-title":"HP:0025528","author":[{"family":"A lesion of the skin with a ring-like distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025528","type":"entry-dictionary","title":"Annular cutaneous lesion"},{"container-title":"HP:0025529","author":[{"family":"A nodule of the skin that exhibits an increased amount of pigmentation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025529","type":"entry-dictionary","title":"Hyperpigmented nodule"},{"container-title":"HP:0025530","author":[{"family":"xanthoma plamare striatum"},{"family":"xanthoma striatum palmare"},{"family":"The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025530","type":"entry-dictionary","title":"Xanthomas of the palmar creases"},{"container-title":"HP:0025531","author":[{"family":"The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on eachhalf of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025531","type":"entry-dictionary","title":"Harlequin phenomenon"},{"container-title":"HP:0025532","author":[{"family":"With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025532","type":"entry-dictionary","title":"Positive pathergy test"},{"container-title":"HP:0025533","author":[{"family":"Peau d'orange"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025533","type":"entry-dictionary","title":"Peau d'orange"},{"container-title":"HP:0025534","author":[{"family":"melanosis oculi"},{"family":"ocular melanosis"},{"family":"A congenital lesionof the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025534","type":"entry-dictionary","title":"Ocular melanocytosis"},{"container-title":"HP:0025535","author":[{"family":"Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025535","type":"entry-dictionary","title":"Shawl sign"},{"container-title":"HP:0025536","author":[{"family":"Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025536","type":"entry-dictionary","title":"V-sign"},{"container-title":"HP:0025537","author":[{"family":"An abnormal accumulation of fluid beneath the skin on sole of the foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025537","type":"entry-dictionary","title":"Plantar edema"},{"container-title":"HP:0025538","author":[{"family":"An abnormal accumulation of fluid beneath the skin on the palm of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025538","type":"entry-dictionary","title":"Palmar edema"},{"container-title":"HP:0025539","author":[{"family":"Abnormal B cell subset distribution"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025539","type":"entry-dictionary","title":"Abnormal B cell subset distribution"},{"container-title":"HP:0025540","author":[{"family":"Any abnormality in the proportion T cells subsets relative to the total number of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025540","type":"entry-dictionary","title":"Abnormal T cell subset distribution"},{"container-title":"HP:0025541","author":[{"family":"A reduction of the activity of any component or product of the complement cascade and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025541","type":"entry-dictionary","title":"Decreased activity of complement receptor"},{"container-title":"HP:0025546","author":[{"family":"abnormal mean corpuscular haemoglobin"},{"family":"abnormal mch"},{"family":"A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms\/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025546","type":"entry-dictionary","title":"Abnormal mean corpuscular hemoglobin"},{"container-title":"HP:0025547","author":[{"family":"decreased mean corpuscular haemoglobin"},{"family":"decreased mch"},{"family":"A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms\/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025547","type":"entry-dictionary","title":"Decreased mean corpuscular hemoglobin"},{"container-title":"HP:0025548","author":[{"family":"increased mean corpuscular haemoglobin"},{"family":"increased mch"},{"family":"An eklevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms\/cell)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025548","type":"entry-dictionary","title":"Increased mean corpuscular hemoglobin"},{"container-title":"HP:0025549","author":[{"family":"eccentric fixation"},{"family":"A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025549","type":"entry-dictionary","title":"Eccentric visual fixation"},{"container-title":"HP:0025550","author":[{"family":"increased level of ribitol in serum"},{"family":"An increase above the normal concentration of ribitol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025550","type":"entry-dictionary","title":"Elevated circulating ribitol concentration"},{"container-title":"HP:0025551","author":[{"family":"visual pathway misrouting"},{"family":"optic pathway misrouting"},{"family":"Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025551","type":"entry-dictionary","title":"Optic nerve misrouting"},{"container-title":"HP:0025552","author":[{"family":"Multiple red\/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025552","type":"entry-dictionary","title":"Periorbital purpura"},{"container-title":"HP:0025553","author":[{"family":"raccoon eyes"},{"family":"Subcutaneous bleeding with a diamter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025553","type":"entry-dictionary","title":"Periorbital ecchymosis with tarsal plate sparing"},{"container-title":"HP:0025554","author":[{"family":"A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025554","type":"entry-dictionary","title":"Yellow nodule"},{"container-title":"HP:0025555","author":[{"family":"Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025555","type":"entry-dictionary","title":"Periungual teleangiectasia"},{"container-title":"HP:0025558","author":[{"family":"Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025558","type":"entry-dictionary","title":"Lamellar cataract with riders"},{"container-title":"HP:0025559","author":[{"family":"A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025559","type":"entry-dictionary","title":"Coronary cataract"},{"container-title":"HP:0025560","author":[{"family":"Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025560","type":"entry-dictionary","title":"Anterior chamber cells"},{"container-title":"HP:0025561","author":[{"family":"Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025561","type":"entry-dictionary","title":"Anterior chamber cells grade 1+"},{"container-title":"HP:0025562","author":[{"family":"Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025562","type":"entry-dictionary","title":"Anterior chamber cells grade 0.5+"},{"container-title":"HP:0025563","author":[{"family":"Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025563","type":"entry-dictionary","title":"Anterior chamber cells grade 0"},{"container-title":"HP:0025564","author":[{"family":"Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025564","type":"entry-dictionary","title":"Anterior chamber cells grade 2+"},{"container-title":"HP:0025565","author":[{"family":"Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025565","type":"entry-dictionary","title":"Anterior chamber cells grade 3+"},{"container-title":"HP:0025566","author":[{"family":"Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025566","type":"entry-dictionary","title":"Anterior chamber cells grade 4+"},{"container-title":"HP:0025567","author":[{"family":"An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025567","type":"entry-dictionary","title":"Central serous chorioretinopathy"},{"container-title":"HP:0025568","author":[{"family":"Abnormal morphology of the choroidal vasculature"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025568","type":"entry-dictionary","title":"Abnormal morphology of the choroidal vasculature"},{"container-title":"HP:0025569","author":[{"family":"The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025569","type":"entry-dictionary","title":"Polypoidal choroidal vasculopathy"},{"container-title":"HP:0025570","author":[{"family":"choroidal hyperpermeability"},{"family":"Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025570","type":"entry-dictionary","title":"Choroidal vascular hyperpermeability"},{"container-title":"HP:0025571","author":[{"family":"A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025571","type":"entry-dictionary","title":"Christman tree cataract"},{"container-title":"HP:0025572","author":[{"family":"stenosis of the lacrimal punctum"},{"family":"lacrimal punctum stenosis"},{"family":"Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025572","type":"entry-dictionary","title":"Punctal stenosis"},{"container-title":"HP:0025573","author":[{"family":"A mild form of myopia with up to -3.00 diopters."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025573","type":"entry-dictionary","title":"Mild myopia"},{"container-title":"HP:0025574","author":[{"family":"macular haemorrhage"},{"family":"bleeding occuring within the macula lutea of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025574","type":"entry-dictionary","title":"Macular hemmorhage"},{"container-title":"HP:0025575","author":[{"family":"Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025575","type":"entry-dictionary","title":"Abnormal superior vena cava morphology"},{"container-title":"HP:0025576","author":[{"family":"Any structural anomaly of the principal vein draining blood from the lower portion of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025576","type":"entry-dictionary","title":"Abnormal inferior vena cava morphology"},{"container-title":"HP:0025578","author":[{"family":"Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025578","type":"entry-dictionary","title":"Aortic valve prolapse"},{"container-title":"HP:0025579","author":[{"family":"Any structural abnormality of the left atrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025579","type":"entry-dictionary","title":"Abnormal left atrium morphology"},{"container-title":"HP:0025580","author":[{"family":"Any structural abnormality of the right atrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025580","type":"entry-dictionary","title":"Abnormal right atrium morphology"},{"container-title":"HP:0025581","author":[{"family":"foveal haemorrhage"},{"family":"Bleeding occuring within the fovea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025581","type":"entry-dictionary","title":"Foveal hemorrhage"},{"container-title":"HP:0025582","author":[{"family":"sub-macular hemorrhage"},{"family":"submacular haemorrhage"},{"family":"Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025582","type":"entry-dictionary","title":"Submacular hemorrhage"},{"container-title":"HP:0025583","author":[{"family":"Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025583","type":"entry-dictionary","title":"Tapetal-like fundal reflex"},{"container-title":"HP:0025584","author":[{"family":"A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025584","type":"entry-dictionary","title":"Hypotropia"},{"container-title":"HP:0025585","author":[{"family":"Tendency for the visual ais of one eye to be higher than that of the other."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025585","type":"entry-dictionary","title":"Hyperphoria"},{"container-title":"HP:0025586","author":[{"family":"A type of strabismus characterized by permanent upward deviation of the visual axis of one eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025586","type":"entry-dictionary","title":"Hypertropia"},{"container-title":"HP:0025587","author":[{"family":"A type of strabismus in which the visual axis of one eye is higher than that of the other."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025587","type":"entry-dictionary","title":"Hyperdeviation"},{"container-title":"HP:0025588","author":[{"family":"A type of strabismus in which the visual axis of one eye is higher than that of the other."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025588","type":"entry-dictionary","title":"Hypodeviation"},{"container-title":"HP:0025589","author":[{"family":"Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025589","type":"entry-dictionary","title":"Cyclodeviation"},{"container-title":"HP:0025590","author":[{"family":"A functional anomaly of the muscles of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025590","type":"entry-dictionary","title":"Abnormal extraocular muscle physiology"},{"container-title":"HP:0025591","author":[{"family":"A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025591","type":"entry-dictionary","title":"Abnormal superior oblique muscle physiology"},{"container-title":"HP:0025592","author":[{"family":"superior oblique palsy"},{"family":"Decreased strength of the superior oblique muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025592","type":"entry-dictionary","title":"Superior oblique muscle weakness"},{"container-title":"HP:0025593","author":[{"family":"Mechanical limitation of the range of movement of the superior oblique muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025593","type":"entry-dictionary","title":"Superior oblique muscle restriction"},{"container-title":"HP:0025594","author":[{"family":"An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025594","type":"entry-dictionary","title":"Superior oblique muscle overaction"},{"container-title":"HP:0025595","author":[{"family":"under-depression in adduction"},{"family":"Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025595","type":"entry-dictionary","title":"Superior oblique muscle underaction"},{"container-title":"HP:0025596","author":[{"family":"A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025596","type":"entry-dictionary","title":"Abnormal inferior oblique muscle physiology"},{"container-title":"HP:0025597","author":[{"family":"Mechanical limitation of the range of movement of the inferior oblique muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025597","type":"entry-dictionary","title":"Inferior oblique muscle restriction"},{"container-title":"HP:0025598","author":[{"family":"inferior oblique palsy"},{"family":"Decreased strength of the inferior oblique muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025598","type":"entry-dictionary","title":"Inferior oblique muscle weakness"},{"container-title":"HP:0025599","author":[{"family":"A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025599","type":"entry-dictionary","title":"Inferior oblique muscle overaction"},{"container-title":"HP:0025600","author":[{"family":"A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025600","type":"entry-dictionary","title":"Abnormal inferior rectus muscle physiology"},{"container-title":"HP:0025601","author":[{"family":"Decreased strength of the inferior rectus muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025601","type":"entry-dictionary","title":"Inferior rectus muscle weakness"},{"container-title":"HP:0025602","author":[{"family":"Mechanical limitation of the range of movement of the inferior rectus muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025602","type":"entry-dictionary","title":"Inferior rectus muscle restriction"},{"container-title":"HP:0025603","author":[{"family":"A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025603","type":"entry-dictionary","title":"Abnormal superior rectus muscle physiology"},{"container-title":"HP:0025604","author":[{"family":"A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025604","type":"entry-dictionary","title":"Orbital schwannoma"},{"container-title":"HP:0025605","author":[{"family":"eyelid lag"},{"family":"von graefe sign"},{"family":"Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025605","type":"entry-dictionary","title":"Lid lag on downgaze"},{"container-title":"HP:0025606","author":[{"family":"A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025606","type":"entry-dictionary","title":"Abnormal medial rectus muscle physiology"},{"container-title":"HP:0025607","author":[{"family":"An inward turning (inversion) of the margin of the upper eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025607","type":"entry-dictionary","title":"Upper eyelid entropion"},{"container-title":"HP:0025608","author":[{"family":"An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025608","type":"entry-dictionary","title":"Cicatricial ectropion"},{"container-title":"HP:0025609","author":[{"family":"A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025609","type":"entry-dictionary","title":"Anterior blepharitis"},{"container-title":"HP:0025610","author":[{"family":"meibomian gland disease"},{"family":"meibomian gland dysfunction"},{"family":"A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025610","type":"entry-dictionary","title":"Posterior blepharitis"},{"container-title":"HP:0025611","author":[{"family":"A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025611","type":"entry-dictionary","title":"Epicanthus superciliaris"},{"container-title":"HP:0025612","author":[{"family":"A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0025612","type":"entry-dictionary","title":"Corneal astigmatism"},{"container-title":"HP:0550003","author":[{"family":"Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0550003","type":"entry-dictionary","title":"Proximal scleroderma"},{"container-title":"HP:0550004","author":[{"family":"flat wart"},{"family":"Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0550004","type":"entry-dictionary","title":"Verruca plana"},{"container-title":"HP:0550005","author":[{"family":"lung disease with systemic sclerosis"},{"family":"scleroderma lung disease"},{"family":"scleroderma of lung"},{"family":"It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0550005","type":"entry-dictionary","title":"Bilateral basilar pulmonary fibrosis"},{"container-title":"HP:0030000","author":[{"family":"Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030000","type":"entry-dictionary","title":"EMG: repetitive nerve stimulation abnormality"},{"container-title":"HP:0030001","author":[{"family":"inability to close the eyelids"},{"family":"eyelids stay open"},{"family":"A condition in which the eyelids do not close to cover the eye completely."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030001","type":"entry-dictionary","title":"Lagopthalmos"},{"container-title":"HP:0030002","author":[{"family":"eyelids stay open at night"},{"family":"inability to close the eyelids at night"},{"family":"The inability to close the eyelids during sleep."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030002","type":"entry-dictionary","title":"Nocturnal lagophthalmos"},{"container-title":"HP:0030003","author":[{"family":"A type of lagophthalmos that occurs in association with facial nerve palsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030003","type":"entry-dictionary","title":"Paralytic lagophthalmos"},{"container-title":"HP:0030004","author":[{"family":"inability to close the eyelids due to scarring"},{"family":"eyelids stay open due to scarring"},{"family":"A type of lagophthalmos that occurs following trauma or surgery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030004","type":"entry-dictionary","title":"Cicatricial lagophthalmos"},{"container-title":"HP:0030005","author":[{"family":"increased capillary permeability"},{"family":"systemic capillary leak syndrome"},{"family":"An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030005","type":"entry-dictionary","title":"Capillary leak"},{"container-title":"HP:0030006","author":[{"family":"Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030006","type":"entry-dictionary","title":"Single fiber EMG abnormality"},{"container-title":"HP:0030007","author":[{"family":"These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030007","type":"entry-dictionary","title":"EMG: positive sharp waves"},{"container-title":"HP:0030008","author":[{"family":"cervical aplasia"},{"family":"absent cervix"},{"family":"aplasia of the cervix"},{"family":"Congenital absence of the cervix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030008","type":"entry-dictionary","title":"Cervical agenesis"},{"container-title":"HP:0030009","author":[{"family":"incompetent cervix"},{"family":"A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030009","type":"entry-dictionary","title":"Cervical insufficiency"},{"container-title":"HP:0030010","author":[{"family":"Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030010","type":"entry-dictionary","title":"Hydrometrocolpos"},{"container-title":"HP:0030011","author":[{"family":"A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030011","type":"entry-dictionary","title":"Imperforate hymen"},{"container-title":"HP:0030012","author":[{"family":"abnormal female reproductive system physiology"},{"family":"abnormal female genital system physiology"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030012","type":"entry-dictionary","title":"Abnormal female reproductive system physiology"},{"container-title":"HP:0030014","author":[{"family":"Female sexual dysfunction"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030014","type":"entry-dictionary","title":"Female sexual dysfunction"},{"container-title":"HP:0030015","author":[{"family":"female orgasmic disorder"},{"family":"The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030015","type":"entry-dictionary","title":"Female anorgasmia"},{"container-title":"HP:0030016","author":[{"family":"Recurrent or persistent genital pain associated with sexual intercourse."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030016","type":"entry-dictionary","title":"Dyspareunia"},{"container-title":"HP:0030017","author":[{"family":"Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030017","type":"entry-dictionary","title":"Vaginismus"},{"container-title":"HP:0030018","author":[{"family":"decreased female sex drive"},{"family":"Dminished sexual desire in female."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030018","type":"entry-dictionary","title":"Decreased female libido"},{"container-title":"HP:0030019","author":[{"family":"increased female sex drive"},{"family":"Elevated sexual desire in female"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030019","type":"entry-dictionary","title":"Increased female libido"},{"container-title":"HP:0030021","author":[{"family":"Small protrusion within the pinna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030021","type":"entry-dictionary","title":"Auricular tag"},{"container-title":"HP:0030022","author":[{"family":"constricted ear"},{"family":"question mark ears"},{"family":"cosman ear"},{"family":"Cleft between the helix and the lobe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030022","type":"entry-dictionary","title":"Question mark ear"},{"container-title":"HP:0030023","author":[{"family":"Small cartilaginous prominence on the posterior concha."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030023","type":"entry-dictionary","title":"Quelprud Nodule"},{"container-title":"HP:0030024","author":[{"family":"extra cartilage in front of the ear"},{"family":"pretragal duplication"},{"family":"accessory tragus"},{"family":"Variably shaped, cartilage-containing tissue anterior to the external auditory meatus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030024","type":"entry-dictionary","title":"Pretragal ectopia"},{"container-title":"HP:0030025","author":[{"family":"Small indentation in the lower part of the ascending helix, concha, or in the crus helix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030025","type":"entry-dictionary","title":"Auricular pit"},{"container-title":"HP:0030026","author":[{"family":"Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030026","type":"entry-dictionary","title":"Squared superior portion of helix"},{"container-title":"HP:0030027","author":[{"family":"malformation of nasal cartilage"},{"family":"deformity of cartilage of nose"},{"family":"anomaly of nasal cartilage"},{"family":"abnormality of the nasal cartilage"},{"family":"malformation of cartilage of nose"},{"family":"abnormality of cartilage of nose"},{"family":"deformity of nasal cartilage"},{"family":"anomaly of cartilage of nose"},{"family":"A morphological anomaly of the nasal cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030027","type":"entry-dictionary","title":"Abnormality of the nasal cartilage"},{"container-title":"HP:0030028","author":[{"family":"failure of development of cartilage of nose"},{"family":"missing cartilage of nose"},{"family":"missing nasal cartilage"},{"family":"absent cartilage of nose"},{"family":"agenesis of cartilage of nose"},{"family":"failure of development of nasal cartilage"},{"family":"agenesis of nasal cartilage"},{"family":"absent nasal cartilage"},{"family":"Lack of a palpable nasal cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030028","type":"entry-dictionary","title":"Absent nasal cartilage"},{"container-title":"HP:0030029","author":[{"family":"spreading of the fingers"},{"family":"splayed fingers"},{"family":"Divergence of digits along the A\/P axis (in the plane of the palm)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030029","type":"entry-dictionary","title":"Splayed fingers"},{"container-title":"HP:0030030","author":[{"family":"The absence of all phalanges of a digit and the associated metacarpal \/metatarsal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030030","type":"entry-dictionary","title":"Absent ray"},{"container-title":"HP:0030031","author":[{"family":"small toe"},{"family":"Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030031","type":"entry-dictionary","title":"Small toe"},{"container-title":"HP:0030032","author":[{"family":"partial absence of foot"},{"family":"An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030032","type":"entry-dictionary","title":"Partial absence of foot"},{"container-title":"HP:0030033","author":[{"family":"small finger"},{"family":"Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030033","type":"entry-dictionary","title":"Small finger"},{"container-title":"HP:0030034","author":[{"family":"diffuse lamellation of the glomerular basement membrane"},{"family":"Presence of abnormal additional layers of the basement membrane of the glomerulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030034","type":"entry-dictionary","title":"Diffuse glomerular basement membrane lamellation"},{"container-title":"HP:0030035","author":[{"family":"struvite kidney stones"},{"family":"Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030035","type":"entry-dictionary","title":"Struvite nephrolithiasis"},{"container-title":"HP:0030036","author":[{"family":"Inability of the kidneys to produce either concentrated or dilute urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030036","type":"entry-dictionary","title":"Isothenuria"},{"container-title":"HP:0030037","author":[{"family":"Incomplete duplication of the ureter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030037","type":"entry-dictionary","title":"Bifid ureter"},{"container-title":"HP:0030038","author":[{"family":"A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030038","type":"entry-dictionary","title":"Enchondroma"},{"container-title":"HP:0030039","author":[{"family":"A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030039","type":"entry-dictionary","title":"Fused thoracic vertebrae"},{"container-title":"HP:0030040","author":[{"family":"A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030040","type":"entry-dictionary","title":"Fused lumbar vertebrae"},{"container-title":"HP:0030041","author":[{"family":"schmorl's nodes"},{"family":"A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030041","type":"entry-dictionary","title":"Schmorl's node"},{"container-title":"HP:0030042","author":[{"family":"incomplete maturation of the public bone"},{"family":"Failure to complete ossification (maturation and calcification) of the pubic bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030042","type":"entry-dictionary","title":"Incomplete ossification of pubis"},{"container-title":"HP:0030043","author":[{"family":"partial hip dislocation"},{"family":"subluxation involving the hip joint"},{"family":"A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030043","type":"entry-dictionary","title":"Hip subluxation"},{"container-title":"HP:0030044","author":[{"family":"A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030044","type":"entry-dictionary","title":"Flexion contracture of digit"},{"container-title":"HP:0030045","author":[{"family":"s-shaped calf bone"},{"family":"Elongated curved (S-shaped) fibulae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030045","type":"entry-dictionary","title":"Serpentine fibula"},{"container-title":"HP:0030046","author":[{"family":"A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030046","type":"entry-dictionary","title":"Hypoglycosylation of alpha-dystroglycan"},{"container-title":"HP:0030047","author":[{"family":"A morphological anomal of the lateral ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030047","type":"entry-dictionary","title":"Abnormality of lateral ventricle"},{"container-title":"HP:0030048","author":[{"family":"Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030048","type":"entry-dictionary","title":"Colpocephaly"},{"container-title":"HP:0030049","author":[{"family":"brain abscess"},{"family":"A collection of pus, immune cells, and other material in the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030049","type":"entry-dictionary","title":"Brain abscess"},{"container-title":"HP:0030050","author":[{"family":"An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030050","type":"entry-dictionary","title":"Narcolepsy"},{"container-title":"HP:0030051","author":[{"family":"walking on tiptoes"},{"family":"An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030051","type":"entry-dictionary","title":"Tip-toe gait"},{"container-title":"HP:0030052","author":[{"family":"freckles in groin region"},{"family":"The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030052","type":"entry-dictionary","title":"Inguinal freckling"},{"container-title":"HP:0030053","author":[{"family":"indurated skin"},{"family":"stiff skin"},{"family":"An induration (hardening) of the skin"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030053","type":"entry-dictionary","title":"Stiff skin"},{"container-title":"HP:0030054","author":[{"family":"Presence of excess fibrous connective tissue surrounding hair follicules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030054","type":"entry-dictionary","title":"Perifollicular fibrosis"},{"container-title":"HP:0030055","author":[{"family":"When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030055","type":"entry-dictionary","title":"Hyperconvex toenail"},{"container-title":"HP:0030056","author":[{"family":"uncombable hair"},{"family":"Hair that is disorderly, stands out from the scalp, and cannot be combed flat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030056","type":"entry-dictionary","title":"Uncombable hair"},{"container-title":"HP:0030057","author":[{"family":"The presence of an antibody directed against the organism's own cells or tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030057","type":"entry-dictionary","title":"Autoimmune antibody positivity"},{"container-title":"HP:0030058","author":[{"family":"An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030058","type":"entry-dictionary","title":"Sickled erythrocytes"},{"container-title":"HP:0030059","author":[{"family":"An abnormal reduction in mitochondrial DNA content of cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030059","type":"entry-dictionary","title":"Mitochondrial depletion"},{"container-title":"HP:0030060","author":[{"family":"A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030060","type":"entry-dictionary","title":"Nervous tissue neoplasm"},{"container-title":"HP:0030061","author":[{"family":"A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030061","type":"entry-dictionary","title":"Neuroectodermal neoplasm"},{"container-title":"HP:0030062","author":[{"family":"A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030062","type":"entry-dictionary","title":"Craniopharyngioma"},{"container-title":"HP:0030063","author":[{"family":"A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030063","type":"entry-dictionary","title":"Neuroepithelial neoplasm"},{"container-title":"HP:0030064","author":[{"family":"A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030064","type":"entry-dictionary","title":"Neurocytoma"},{"container-title":"HP:0030065","author":[{"family":"A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and\/or glial differentiation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030065","type":"entry-dictionary","title":"Primitive neuroectodermal tumor"},{"container-title":"HP:0030066","author":[{"family":"A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030066","type":"entry-dictionary","title":"Ependymoblastoma"},{"container-title":"HP:0030067","author":[{"family":"A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030067","type":"entry-dictionary","title":"Peripheral primitive neuroectodermal neoplasm"},{"container-title":"HP:0030068","author":[{"family":"A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030068","type":"entry-dictionary","title":"Olfactory esthesioneuroblastoma"},{"container-title":"HP:0030069","author":[{"family":"primary cns lymphoma"},{"family":"A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030069","type":"entry-dictionary","title":"Primary central nervous system lymphoma"},{"container-title":"HP:0030070","author":[{"family":"A primitive neuroectodermal neoplasm that occurs in the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030070","type":"entry-dictionary","title":"Central primitive neuroectodermal tumor"},{"container-title":"HP:0030071","author":[{"family":"A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030071","type":"entry-dictionary","title":"Medulloepithelioma"},{"container-title":"HP:0030072","author":[{"family":"neoplasm of the paranasal sinuses"},{"family":"tumor of the paranasal sinuses"},{"family":"A tumor that originates in the paranasal sinus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030072","type":"entry-dictionary","title":"Paranasal sinus neoplasm"},{"container-title":"HP:0030074","author":[{"family":"chemodectomas"},{"family":"A usually benign neoplasm originating in the chemoreceptor tissue of the cartodi body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030074","type":"entry-dictionary","title":"Chemodectoma"},{"container-title":"HP:0030075","author":[{"family":"Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030075","type":"entry-dictionary","title":"Ductal carcinoma in situ"},{"container-title":"HP:0030076","author":[{"family":"Lobular carcinoma in situ"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030076","type":"entry-dictionary","title":"Lobular carcinoma in situ"},{"container-title":"HP:0030077","author":[{"family":"A tumor originating in a bronchus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030077","type":"entry-dictionary","title":"Bronchial neoplasm"},{"container-title":"HP:0030078","author":[{"family":"Lung adenocarcinoma"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030078","type":"entry-dictionary","title":"Lung adenocarcinoma"},{"container-title":"HP:0030079","author":[{"family":"A tumor of the uterine cervix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030079","type":"entry-dictionary","title":"Cervix cancer"},{"container-title":"HP:0030080","author":[{"family":"A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030080","type":"entry-dictionary","title":"Burkitt lymphoma"},{"container-title":"HP:0030081","author":[{"family":"Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030081","type":"entry-dictionary","title":"Punctate periventricular T2 hyperintense foci"},{"container-title":"HP:0030082","author":[{"family":"abnormal drinking behavior"},{"family":"Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030082","type":"entry-dictionary","title":"Abnormal drinking behavior"},{"container-title":"HP:0030083","author":[{"family":"salt craving"},{"family":"An excessive desire to eat salt (sodium chloride) or salty foods."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030083","type":"entry-dictionary","title":"Salt craving"},{"container-title":"HP:0030084","author":[{"family":"curvature of digit"},{"family":"An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030084","type":"entry-dictionary","title":"Clinodactyly"},{"container-title":"HP:0030085","author":[{"family":"Abnormal concentration of lactate in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030085","type":"entry-dictionary","title":"Abnormal CSF lactate level"},{"container-title":"HP:0030086","author":[{"family":"Decreased concentration of lactate in the cerebrospinal fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030086","type":"entry-dictionary","title":"Reduced CSF lactate"},{"container-title":"HP:0030087","author":[{"family":"abnormal testosterone level"},{"family":"An anomalous concentration of testosterone in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030087","type":"entry-dictionary","title":"Abnormal serum testosterone level"},{"container-title":"HP:0030088","author":[{"family":"high serum testosterone levels"},{"family":"increased testosterone"},{"family":"increased serum testosterone levels"},{"family":"An elevated circulating testosterone level in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030088","type":"entry-dictionary","title":"Increased serum testosterone level"},{"container-title":"HP:0030089","author":[{"family":"An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030089","type":"entry-dictionary","title":"Abnormal muscle fiber protein expression"},{"container-title":"HP:0030090","author":[{"family":"An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030090","type":"entry-dictionary","title":"Abnormal muscle fiber merosin expression"},{"container-title":"HP:0030091","author":[{"family":"absent muscle fiber laminin alpha 2"},{"family":"absent merosin staining in muscle biopsy"},{"family":"Lack of merosin protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030091","type":"entry-dictionary","title":"Absent muscle fiber merosin"},{"container-title":"HP:0030092","author":[{"family":"A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030092","type":"entry-dictionary","title":"Reduced muscle fiber merosin"},{"container-title":"HP:0030093","author":[{"family":"A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030093","type":"entry-dictionary","title":"Abnormal muscle fiber laminin beta 1"},{"container-title":"HP:0030094","author":[{"family":"A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030094","type":"entry-dictionary","title":"Reduced muscle fiber laminin beta 1"},{"container-title":"HP:0030095","author":[{"family":"reduced collagen 6 in muscle"},{"family":"A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030095","type":"entry-dictionary","title":"Reduced muscle collagen VI"},{"container-title":"HP:0030096","author":[{"family":"A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030096","type":"entry-dictionary","title":"Abnormal muscle fiber dystrophin expression"},{"container-title":"HP:0030097","author":[{"family":"Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030097","type":"entry-dictionary","title":"Absent muscle dystrophin expression"},{"container-title":"HP:0030098","author":[{"family":"reduced dystrophin staining in muscle"},{"family":"A decreased amount of dystrophin in muscle fiber tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030098","type":"entry-dictionary","title":"Reduced muscle dystrophin expression"},{"container-title":"HP:0030099","author":[{"family":"Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030099","type":"entry-dictionary","title":"Reduced muscle fiber alpha dystroglycan"},{"container-title":"HP:0030100","author":[{"family":"Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030100","type":"entry-dictionary","title":"Abnormal muscle fiber alpha sarcoglycan"},{"container-title":"HP:0030101","author":[{"family":"Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030101","type":"entry-dictionary","title":"Absent muscle fiber alpha sarcoglycan"},{"container-title":"HP:0030102","author":[{"family":"A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030102","type":"entry-dictionary","title":"Reduced muscle fiber alpha sarcoglycan"},{"container-title":"HP:0030103","author":[{"family":"Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030103","type":"entry-dictionary","title":"Abnormal muscle fiber beta sarcoglycan"},{"container-title":"HP:0030104","author":[{"family":"Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030104","type":"entry-dictionary","title":"Abnormal muscle fiber gamma sarcoglycan"},{"container-title":"HP:0030105","author":[{"family":"Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030105","type":"entry-dictionary","title":"Abnormal muscle fiber delta sarcoglycan"},{"container-title":"HP:0030106","author":[{"family":"Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030106","type":"entry-dictionary","title":"Absent muscle fiber beta sarcoglyan"},{"container-title":"HP:0030107","author":[{"family":"Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030107","type":"entry-dictionary","title":"Reduced muscle fiber beta sarcoglycan"},{"container-title":"HP:0030108","author":[{"family":"Immunohistochemistry reveals reduced gamma sarcoglyan protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030108","type":"entry-dictionary","title":"Reduced muscle fiber gamma sarcoglycan"},{"container-title":"HP:0030109","author":[{"family":"Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030109","type":"entry-dictionary","title":"Absent muscle fiber gamma sarcoglycan"},{"container-title":"HP:0030110","author":[{"family":"Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030110","type":"entry-dictionary","title":"Absent muscle fiber delta sarcoglycan"},{"container-title":"HP:0030111","author":[{"family":"Reduced muscle fiber delta sarcoglycan"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030111","type":"entry-dictionary","title":"Reduced muscle fiber delta sarcoglycan"},{"container-title":"HP:0030112","author":[{"family":"A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030112","type":"entry-dictionary","title":"Abnormal muscle fiber alpha dystroglycan"},{"container-title":"HP:0030113","author":[{"family":"A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030113","type":"entry-dictionary","title":"Abnormal muscle fiber dysferlin"},{"container-title":"HP:0030114","author":[{"family":"Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030114","type":"entry-dictionary","title":"Absent muscle fiber dysferlin"},{"container-title":"HP:0030115","author":[{"family":"Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030115","type":"entry-dictionary","title":"Reduced muscle fiber dysferlin"},{"container-title":"HP:0030116","author":[{"family":"A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030116","type":"entry-dictionary","title":"Abnormal muscle fiber emerin"},{"container-title":"HP:0030117","author":[{"family":"Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030117","type":"entry-dictionary","title":"Absent muscle fiber emerin"},{"container-title":"HP:0030118","author":[{"family":"Immunohistochemistry reveals reduced emerin protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030118","type":"entry-dictionary","title":"Reduced muscle fiber emerin"},{"container-title":"HP:0030119","author":[{"family":"A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030119","type":"entry-dictionary","title":"Abnormal muscle fiber calpain-3"},{"container-title":"HP:0030120","author":[{"family":"Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030120","type":"entry-dictionary","title":"Absent muscle fiber calpain-3"},{"container-title":"HP:0030121","author":[{"family":"Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030121","type":"entry-dictionary","title":"Reduced muscle fiber calpain-3"},{"container-title":"HP:0030122","author":[{"family":"Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030122","type":"entry-dictionary","title":"Reduced muscle fiber perlecan"},{"container-title":"HP:0030123","author":[{"family":"A deviation from the normal amount of lamin A\/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030123","type":"entry-dictionary","title":"Abnormal muscle fiber lamin A\/C"},{"container-title":"HP:0030124","author":[{"family":"A decreased amount of lamin A\/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030124","type":"entry-dictionary","title":"Reduced muscle fiber lamin A\/C"},{"container-title":"HP:0030125","author":[{"family":"l5 sacralization"},{"family":"A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030125","type":"entry-dictionary","title":"Sacralization of the fifth lumbar vertebra"},{"container-title":"HP:0030126","author":[{"family":"An anomaly of the inner mucous membrane of the uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030126","type":"entry-dictionary","title":"Abnormality of the endometrium"},{"container-title":"HP:0030127","author":[{"family":"The growth of endometrial tissue outside the uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030127","type":"entry-dictionary","title":"Endometriosis"},{"container-title":"HP:0030129","author":[{"family":"Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030129","type":"entry-dictionary","title":"Impaired ristocetin cofactor assay activity"},{"container-title":"HP:0030130","author":[{"family":"Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030130","type":"entry-dictionary","title":"Impaired von Willibrand factor collagen binding activity"},{"container-title":"HP:0030131","author":[{"family":"Deviation from the normal von Willebrand factor multimer pattern."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030131","type":"entry-dictionary","title":"Abnormal von Willebrand factor multimer distribution"},{"container-title":"HP:0030132","author":[{"family":"Absence of large von Willebrand Factor multimers on gel electrophoresis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030132","type":"entry-dictionary","title":"Absence of large von Willibrand factor multimers"},{"container-title":"HP:0030133","author":[{"family":"Detection of abnormal ultra-large von Willebrand factor multimers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030133","type":"entry-dictionary","title":"Abnormal presence of ultra-large von Willebrand factor multimers"},{"container-title":"HP:0030134","author":[{"family":"Complete absence of all von Willebrand factor multimers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030134","type":"entry-dictionary","title":"Total absence von Willebrand factor multimers"},{"container-title":"HP:0030135","author":[{"family":"Lack of intermediate von Willebrand Factor multimers on gel electrophoresis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030135","type":"entry-dictionary","title":"Absence of intermediate von Willibrand factor multimers"},{"container-title":"HP:0030136","author":[{"family":"Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030136","type":"entry-dictionary","title":"Enhanced ristocetin cofactor assay activity"},{"container-title":"HP:0030137","author":[{"family":"prolonged bleeding following circumcision"},{"family":"Bleeding that persists for a longer than usual time following circumcision."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030137","type":"entry-dictionary","title":"Prolonged bleeding following circumcision"},{"container-title":"HP:0030138","author":[{"family":"excessive bleeding from superficial cuts"},{"family":"An abnormally increased degree of bleeding following a superfical injury to the surface of the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030138","type":"entry-dictionary","title":"Excessive bleeding from superficial cuts"},{"container-title":"HP:0030139","author":[{"family":"An abnormal high amount of bleeding following the procedure of taking a blood sample."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030139","type":"entry-dictionary","title":"Excessive bleeding after a venipuncture"},{"container-title":"HP:0030140","author":[{"family":"oral cavity hemorrhage"},{"family":"bleeding from mouth"},{"family":"oral cavity bleeding"},{"family":"Recurrent or excessive bleeding from the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030140","type":"entry-dictionary","title":"Oral cavity bleeding"},{"container-title":"HP:0030141","author":[{"family":"abnormality of hairline at back of head"},{"family":"An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair and that does not."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030141","type":"entry-dictionary","title":"Abnormality of the posterior hairline"},{"container-title":"HP:0030142","author":[{"family":"abnormal bowel sounds"},{"family":"An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030142","type":"entry-dictionary","title":"Abnormal bowel sounds"},{"container-title":"HP:0030143","author":[{"family":"increased bowel sounds"},{"family":"An increased amount of bowel sounds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030143","type":"entry-dictionary","title":"Hyperactive bowel sounds"},{"container-title":"HP:0030144","author":[{"family":"decreased bowel sounds"},{"family":"An decreased amount of bowel sounds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030144","type":"entry-dictionary","title":"Hypoactive bowel sounds"},{"container-title":"HP:0030145","author":[{"family":"lack of bowel sounds"},{"family":"Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030145","type":"entry-dictionary","title":"Lack of bowel sounds"},{"container-title":"HP:0030146","author":[{"family":"Abnormal liver parenchyma morphology"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030146","type":"entry-dictionary","title":"Abnormal liver parenchyma morphology"},{"container-title":"HP:0030147","author":[{"family":"Tremor of the trunk in an anterior-posterior plane at 3-4 Hz."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030147","type":"entry-dictionary","title":"Truncal titubation"},{"container-title":"HP:0030148","author":[{"family":"heart murmurs"},{"family":"cardiac murmurs"},{"family":"An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030148","type":"entry-dictionary","title":"Heart murmur"},{"container-title":"HP:0030149","author":[{"family":"cardiovascular shock"},{"family":"Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030149","type":"entry-dictionary","title":"Cardiogenic shock"},{"container-title":"HP:0030150","author":[{"family":"An abnormally increased number of plasma cells in tissues, exudates, or blood"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030150","type":"entry-dictionary","title":"Plasmacytosis"},{"container-title":"HP:0030151","author":[{"family":"bile duct inflammation"},{"family":"Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030151","type":"entry-dictionary","title":"Cholangitis"},{"container-title":"HP:0030153","author":[{"family":"bile duct cancer"},{"family":"Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030153","type":"entry-dictionary","title":"Cholangiocarcinoma"},{"container-title":"HP:0030154","author":[{"family":"gall bladder perforation"},{"family":"Rupture of the wall of the gallbladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030154","type":"entry-dictionary","title":"Gallbladder perforation"},{"container-title":"HP:0030155","author":[{"family":"scrotal pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030155","type":"entry-dictionary","title":"Scrotal pain"},{"container-title":"HP:0030156","author":[{"family":"The presence of free monoclonal immunoglobulin light chains in the urine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030156","type":"entry-dictionary","title":"Bence Jones Proteinuria"},{"container-title":"HP:0030157","author":[{"family":"flank pain"},{"family":"kidney pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030157","type":"entry-dictionary","title":"Flank pain"},{"container-title":"HP:0030158","author":[{"family":"cervical ectopy"},{"family":"cervical erosion"},{"family":"Eversion of the endocervix with protrusion of the central (endocervical) columnar epithelium through the external os of the cervis into the vaginal milieu."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030158","type":"entry-dictionary","title":"Cervical ectropion"},{"container-title":"HP:0030159","author":[{"family":"cervical tumor"},{"family":"Abnormal growth of tissue projecting from a mucous membrane of the endocervix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030159","type":"entry-dictionary","title":"Cervical polyp"},{"container-title":"HP:0030160","author":[{"family":"uterine cervicitis"},{"family":"uterine cervix inflammation"},{"family":"Inflammation of the uterine cervix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030160","type":"entry-dictionary","title":"Cervicitis"},{"container-title":"HP:0030161","author":[{"family":"A sensation of itching in the vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030161","type":"entry-dictionary","title":"Vaginal pruritus"},{"container-title":"HP:0030162","author":[{"family":"Abnormally large size of glomeruli."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030162","type":"entry-dictionary","title":"Glomerulomegaly"},{"container-title":"HP:0030163","author":[{"family":"Abnormality of vascular function."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030163","type":"entry-dictionary","title":"Abnormal vascular physiology"},{"container-title":"HP:0030164","author":[{"family":"jaw pain while chewing"},{"family":"Pain in the jaw or ear induced by chewing or otherwise moving the jaw."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030164","type":"entry-dictionary","title":"Jaw claudication"},{"container-title":"HP:0030165","author":[{"family":"The presence of an increased number of twists and turns of the retinal artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030165","type":"entry-dictionary","title":"Temporal artery tortuosity"},{"container-title":"HP:0030166","author":[{"family":"night sweats"},{"family":"nocturnal hyperhidrosis"},{"family":"Occurence of excessive sweating during sleep."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030166","type":"entry-dictionary","title":"Night sweats"},{"container-title":"HP:0030167","author":[{"family":"serum antimitochrondrial antibodies"},{"family":"The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030167","type":"entry-dictionary","title":"Antimitochondrial antibody positivity"},{"container-title":"HP:0030168","author":[{"family":"dilatation of the superficial abdominal veins"},{"family":"Increase in diameter of the veins located underneath the skin of the abdomen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030168","type":"entry-dictionary","title":"Dilated superficial abdominal veins"},{"container-title":"HP:0030169","author":[{"family":"gastric varices"},{"family":"Extreme dilation of the submucusoal veins in the stomach."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030169","type":"entry-dictionary","title":"Gastric varix"},{"container-title":"HP:0030170","author":[{"family":"Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030170","type":"entry-dictionary","title":"Cystic artery pseudoaneurysm"},{"container-title":"HP:0030171","author":[{"family":"A collection of clotted blood surrounding the kidney."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030171","type":"entry-dictionary","title":"Perirenal hematoma"},{"container-title":"HP:0030172","author":[{"family":"Congenital absence of the myelin sheath on a nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030172","type":"entry-dictionary","title":"Peripheral amyelination"},{"container-title":"HP:0030173","author":[{"family":"increased peripheral myelination"},{"family":"Increased amount of peripheral myelination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030173","type":"entry-dictionary","title":"Peripheral hypermyelination"},{"container-title":"HP:0030174","author":[{"family":"Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030174","type":"entry-dictionary","title":"Increased peripheral myelin thickness"},{"container-title":"HP:0030175","author":[{"family":"tomacula"},{"family":"The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030175","type":"entry-dictionary","title":"Myelin tomacula"},{"container-title":"HP:0030176","author":[{"family":"Loss of myelin from peripheral nerves in a pattern that differs between right and left."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030176","type":"entry-dictionary","title":"Asymmetric peripheral demyelination"},{"container-title":"HP:0030177","author":[{"family":"abnormal nerve conduction study"},{"family":"An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030177","type":"entry-dictionary","title":"Abnormality of peripheral nervous system electrophysiology"},{"container-title":"HP:0030178","author":[{"family":"Abnormality of central nervous system electrophysiology"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030178","type":"entry-dictionary","title":"Abnormality of central nervous system electrophysiology"},{"container-title":"HP:0030179","author":[{"family":"An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030179","type":"entry-dictionary","title":"Abnormal peripheral action potential amplitude"},{"container-title":"HP:0030180","author":[{"family":"oppenheim sign"},{"family":"Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030180","type":"entry-dictionary","title":"Oppenheim reflex"},{"container-title":"HP:0030181","author":[{"family":"gordon sign"},{"family":"Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030181","type":"entry-dictionary","title":"Gordon reflex"},{"container-title":"HP:0030182","author":[{"family":"Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030182","type":"entry-dictionary","title":"Tetraplegia\/tetraparesis"},{"container-title":"HP:0030183","author":[{"family":"vvor impairment"},{"family":"visually enhanced vestibulo-ocular reflex impairment"},{"family":"The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibularninteraction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030183","type":"entry-dictionary","title":"Impaired visually enhanced vestibulo-ocular reflex"},{"container-title":"HP:0030185","author":[{"family":"dystonia tremor"},{"family":"An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030185","type":"entry-dictionary","title":"Isometric tremor"},{"container-title":"HP:0030186","author":[{"family":"essential tremor"},{"family":"Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030186","type":"entry-dictionary","title":"Kinetic tremor"},{"container-title":"HP:0030187","author":[{"family":"Nodding movement of the head or body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030187","type":"entry-dictionary","title":"Titubation"},{"container-title":"HP:0030188","author":[{"family":"tremor of a body part"},{"family":"Tremor classified by the affected body part."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030188","type":"entry-dictionary","title":"Tremor by anatomical site"},{"container-title":"HP:0030190","author":[{"family":"Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affetc the latch, jaw motions, tongue placement, lip seal, suck\/swallow\/breathe pattern and overall feeding behavior."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030190","type":"entry-dictionary","title":"Oral motor hypotonia"},{"container-title":"HP:0030191","author":[{"family":"abnormal pns synaptic transmission"},{"family":"An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030191","type":"entry-dictionary","title":"Abnormal peripheral nervous system synaptic transmission"},{"container-title":"HP:0030192","author":[{"family":"A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030192","type":"entry-dictionary","title":"Fatigable weakness of bulbar muscles"},{"container-title":"HP:0030193","author":[{"family":"A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030193","type":"entry-dictionary","title":"Fatigable weakness of chewing muscles"},{"container-title":"HP:0030194","author":[{"family":"A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030194","type":"entry-dictionary","title":"Fatigable weakness of speech muscles"},{"container-title":"HP:0030195","author":[{"family":"A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030195","type":"entry-dictionary","title":"Fatigable weakness of swallowing muscles"},{"container-title":"HP:0030196","author":[{"family":"A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030196","type":"entry-dictionary","title":"Fatigable weakness of respiratory muscles"},{"container-title":"HP:0030197","author":[{"family":"A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030197","type":"entry-dictionary","title":"Fatigable weakness of skeletal muscles"},{"container-title":"HP:0030198","author":[{"family":"A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030198","type":"entry-dictionary","title":"Fatigable weakness of distal limb muscles"},{"container-title":"HP:0030199","author":[{"family":"A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030199","type":"entry-dictionary","title":"Fatigable weakness of neck muscles"},{"container-title":"HP:0030200","author":[{"family":"A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030200","type":"entry-dictionary","title":"Fatiguable weakness of proximal limb muscles"},{"container-title":"HP:0030201","author":[{"family":"Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030201","type":"entry-dictionary","title":"Response to drugs acting on neuromuscular transmission"},{"container-title":"HP:0030202","author":[{"family":"Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030202","type":"entry-dictionary","title":"Favorable response of weakness to acetylcholine esterase inhibitors"},{"container-title":"HP:0030203","author":[{"family":"Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030203","type":"entry-dictionary","title":"Unfavorable response of muscle weakness to acetylcholine esterase inhibitors"},{"container-title":"HP:0030205","author":[{"family":"increased jitter at single fibre electromyography"},{"family":"The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030205","type":"entry-dictionary","title":"Increased jitter at single fibre EMG"},{"container-title":"HP:0030206","author":[{"family":"A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030206","type":"entry-dictionary","title":"EMG: incremental response of compound muscle action potential to repetitive nerve stimulation"},{"container-title":"HP:0030207","author":[{"family":"flail chest"},{"family":"paradoxical breathing"},{"family":"Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030207","type":"entry-dictionary","title":"Paradoxical respiration"},{"container-title":"HP:0030208","author":[{"family":"The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030208","type":"entry-dictionary","title":"Acetylcholine receptor antibody positivity"},{"container-title":"HP:0030209","author":[{"family":"The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030209","type":"entry-dictionary","title":"Calcium channel antibody positivity"},{"container-title":"HP:0030210","author":[{"family":"anti-musk antibodies"},{"family":"The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030210","type":"entry-dictionary","title":"Muscle specific kinase antibody positivity"},{"container-title":"HP:0030211","author":[{"family":"Reduced velocity and acceleration in the pupillary light response."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030211","type":"entry-dictionary","title":"Slow pupillary light response"},{"container-title":"HP:0030212","author":[{"family":"compulsive hoarding"},{"family":"Excessive or pathological tendency to save and collect possessions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030212","type":"entry-dictionary","title":"Collectionism"},{"container-title":"HP:0030213","author":[{"family":"Lack of emotional reactivity and empathy for situations or persons, sometime also for family members."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030213","type":"entry-dictionary","title":"Emotional blunting"},{"container-title":"HP:0030214","author":[{"family":"sex addiction"},{"family":"Pathological persistent sexual disinhibiting behavior, directed at oneself or to others."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030214","type":"entry-dictionary","title":"Hypersexuality"},{"container-title":"HP:0030215","author":[{"family":"inappropriate crying"},{"family":"Uncontrolled episodes of crying, without apparent motivating stimuli."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030215","type":"entry-dictionary","title":"Inappropriate crying"},{"container-title":"HP:0030216","author":[{"family":"Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030216","type":"entry-dictionary","title":"Inertia"},{"container-title":"HP:0030217","author":[{"family":"Difficulty in performing the correct execution of limbs movements in absence of motor impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030217","type":"entry-dictionary","title":"Limb apraxia"},{"container-title":"HP:0030218","author":[{"family":"Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030218","type":"entry-dictionary","title":"Punding"},{"container-title":"HP:0030219","author":[{"family":"trouble remembering words"},{"family":"A progressive loss of the ability to remember the meaning of words, faces and objects."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030219","type":"entry-dictionary","title":"Semantic dementia"},{"container-title":"HP:0030220","author":[{"family":"socially inappropriate behavior"},{"family":"Behavior that is not in line with social norms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030220","type":"entry-dictionary","title":"Socially inappropriate behavior"},{"container-title":"HP:0030221","author":[{"family":"sweet craving"},{"family":"Excessive desire to eat sweet foods."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030221","type":"entry-dictionary","title":"Sweet craving"},{"container-title":"HP:0030222","author":[{"family":"Difficulty in recognizing objects by visual input in absence of sensorial visual impairment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030222","type":"entry-dictionary","title":"Visual agnosia"},{"container-title":"HP:0030223","author":[{"family":"perseverative behaviour"},{"family":"perseverative behavior"},{"family":"Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030223","type":"entry-dictionary","title":"Perseveration"},{"container-title":"HP:0030224","author":[{"family":"A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030224","type":"entry-dictionary","title":"Abnormal muscle fiber desmin"},{"container-title":"HP:0030225","author":[{"family":"muscle fiber desmin-reactive inclusion bodies"},{"family":"Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030225","type":"entry-dictionary","title":"Accumulation of muscle fiber desmin"},{"container-title":"HP:0030226","author":[{"family":"A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030226","type":"entry-dictionary","title":"Abnormal muscle fiber myotilin"},{"container-title":"HP:0030227","author":[{"family":"Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030227","type":"entry-dictionary","title":"Accumulation of muscle fiber myotilin"},{"container-title":"HP:0030228","author":[{"family":"A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030228","type":"entry-dictionary","title":"Abnormal muscle fiber valosin-containing protein"},{"container-title":"HP:0030229","author":[{"family":"Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030229","type":"entry-dictionary","title":"Accumulation of muscle fiber valosin-containing protein"},{"container-title":"HP:0030230","author":[{"family":"The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030230","type":"entry-dictionary","title":"Central core regions in muscle fibers"},{"container-title":"HP:0030231","author":[{"family":"An increased amount of glycogen in muscle tissue found specifically in lysosomes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030231","type":"entry-dictionary","title":"Glycogen accumulation in muscle fiber lysosomes"},{"container-title":"HP:0030232","author":[{"family":"Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030232","type":"entry-dictionary","title":"Increased sarcoplasmic glycogen"},{"container-title":"HP:0030233","author":[{"family":"bethlem phenomenon"},{"family":"Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030233","type":"entry-dictionary","title":"Bethlem sign"},{"container-title":"HP:0030234","author":[{"family":"An increased CPK level between 4X and 50X above the upper normal level."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030234","type":"entry-dictionary","title":"Highly elevated creatine phosphokinase"},{"container-title":"HP:0030235","author":[{"family":"An increased CPK level more than 50X above the upper normal level."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030235","type":"entry-dictionary","title":"Extremely elevated creatine phosphokinase"},{"container-title":"HP:0030236","author":[{"family":"abnormality of muscle size"},{"family":"Abnormalities of the overall muscle bulk based on clinical observation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030236","type":"entry-dictionary","title":"Abnormality of muscle size"},{"container-title":"HP:0030237","author":[{"family":"hand muscle weakness"},{"family":"Reduced strength of the musculature of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030237","type":"entry-dictionary","title":"Hand muscle weakness"},{"container-title":"HP:0030239","author":[{"family":"underdeveloped upper arm muscles"},{"family":"Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030239","type":"entry-dictionary","title":"Hypoplasia of the upper arm musculature"},{"container-title":"HP:0030241","author":[{"family":"deltoid muscle hypoplasia"},{"family":"Underdevelopment of the deltoid muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030241","type":"entry-dictionary","title":"Hypoplasia of deltoid muscle"},{"container-title":"HP:0030242","author":[{"family":"blood clot in portal vein"},{"family":"Thrombosis of the portal vein and\/or its tributaries, which include the splenic vein and the sup-erior and inferior mesenteric veins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030242","type":"entry-dictionary","title":"Portal vein thrombosis"},{"container-title":"HP:0030243","author":[{"family":"blood clot in liver vein"},{"family":"An obstruction in the veins of the liver caused by a blood clot (thrombosis)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030243","type":"entry-dictionary","title":"Hepatic vein thrombosis"},{"container-title":"HP:0030244","author":[{"family":"maternal fever during pregnancy"},{"family":"The occurence of an elevated body temperature of the mother during pregnancy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030244","type":"entry-dictionary","title":"Maternal fever in pregnancy"},{"container-title":"HP:0030245","author":[{"family":"maternal fever during labor"},{"family":"The occurence of maternal fever during labor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030245","type":"entry-dictionary","title":"Intrapartum fever"},{"container-title":"HP:0030246","author":[{"family":"The occurence of fever in a mother during the first trimester of pregnancy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030246","type":"entry-dictionary","title":"Maternal first trimester fever"},{"container-title":"HP:0030247","author":[{"family":"blood clot in splanchnic vein"},{"family":"The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030247","type":"entry-dictionary","title":"Splanchnic vein thrombosis"},{"container-title":"HP:0030248","author":[{"family":"blood clot in mesentertic vein"},{"family":"A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030248","type":"entry-dictionary","title":"Mesenteric venous thrombosis"},{"container-title":"HP:0030249","author":[{"family":"A sudden eruptiion (rash) of the surface of a mucous membrane of the mouth or pharynx."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030249","type":"entry-dictionary","title":"Enanthema"},{"container-title":"HP:0030250","author":[{"family":"The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030250","type":"entry-dictionary","title":"Pulmonary granulomatosis"},{"container-title":"HP:0030251","author":[{"family":"Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030251","type":"entry-dictionary","title":"Absence of memory B cells"},{"container-title":"HP:0030252","author":[{"family":"Complete lack of mature B cells, that is, of B cells that have left the bone marrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030252","type":"entry-dictionary","title":"Absence of mature B cells"},{"container-title":"HP:0030253","author":[{"family":"A reduced ability of a T cell population to expand by cell division following T cell activation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030253","type":"entry-dictionary","title":"Defective T cell proliferation"},{"container-title":"HP:0030254","author":[{"family":"Small areas of bleeding (hemorrhage) under the fingernail or toenail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030254","type":"entry-dictionary","title":"Nail bed hemorrhage"},{"container-title":"HP:0030255","author":[{"family":"The presence of multiple polyps in the large intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030255","type":"entry-dictionary","title":"Large intestinal polyposis"},{"container-title":"HP:0030256","author":[{"family":"The presence of multiple polyps in the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030256","type":"entry-dictionary","title":"Small intestinal polyposis"},{"container-title":"HP:0030257","author":[{"family":"freckled genitalia"},{"family":"genitalia, ephelides"},{"family":"One or more brown punctate macules on the skin of the genitalia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030257","type":"entry-dictionary","title":"Freckled genitalia"},{"container-title":"HP:0030258","author":[{"family":"penile melanosis"},{"family":"increased genital pigmentation"},{"family":"Localized or generalized increased genital pigmentation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030258","type":"entry-dictionary","title":"Hyperpigmented genitalia"},{"container-title":"HP:0030259","author":[{"family":"decreased genital pigmentation"},{"family":"Localized or generalized decreased genital pigmentation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030259","type":"entry-dictionary","title":"Hypopigmented genitalia"},{"container-title":"HP:0030260","author":[{"family":"Length of penis more than 2 SD below the mean for age accompanied by hypospadias."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030260","type":"entry-dictionary","title":"Microphallus"},{"container-title":"HP:0030261","author":[{"family":"penis aplasia"},{"family":"aplasia of the penis"},{"family":"aphallia"},{"family":"absent penis"},{"family":"Lack of recognizable penile structures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030261","type":"entry-dictionary","title":"Absent penis"},{"container-title":"HP:0030262","author":[{"family":"narrow penis"},{"family":"Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030262","type":"entry-dictionary","title":"Narrow penis"},{"container-title":"HP:0030263","author":[{"family":"Rotated position of the glans, with or without the penile shaft, of 30 degrees or more."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030263","type":"entry-dictionary","title":"Torsion of the penis"},{"container-title":"HP:0030264","author":[{"family":"webbed penis"},{"family":"Ventral skinfold extending from penis to scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030264","type":"entry-dictionary","title":"Webbed penis"},{"container-title":"HP:0030265","author":[{"family":"wide penis"},{"family":"Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030265","type":"entry-dictionary","title":"Wide penis"},{"container-title":"HP:0030266","author":[{"family":"Abnormality of the sacroiliac notch"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030266","type":"entry-dictionary","title":"Abnormality of the sacroiliac notch"},{"container-title":"HP:0030267","author":[{"family":"Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030267","type":"entry-dictionary","title":"Calcification of the interosseus membrane of the forearm"},{"container-title":"HP:0030268","author":[{"family":"Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030268","type":"entry-dictionary","title":"Hyperplastic callus formation"},{"container-title":"HP:0030269","author":[{"family":"increased serum insulin-like growth factor 1"},{"family":"elevated serum igf1"},{"family":"increased serum igf1"},{"family":"An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030269","type":"entry-dictionary","title":"Increased serum insulin-like growth factor 1"},{"container-title":"HP:0030270","author":[{"family":"Increase in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030270","type":"entry-dictionary","title":"Elevated red cell adenosine deaminase activity"},{"container-title":"HP:0030271","author":[{"family":"2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030271","type":"entry-dictionary","title":"Reduced erythrocyte 2,3-diphosphoglycerate concentration"},{"container-title":"HP:0030272","author":[{"family":"An altered ability of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered levels of an enzyme."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030272","type":"entry-dictionary","title":"Abnormal erythrocyte enzyme activity"},{"container-title":"HP:0030273","author":[{"family":"Decrease in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030273","type":"entry-dictionary","title":"Reduced red cell adenosine deaminase activity"},{"container-title":"HP:0030274","author":[{"family":"extra scrotum"},{"family":"Additional scrotum, or part of a scrotum in an abnormal location."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030274","type":"entry-dictionary","title":"Accessory scrotum"},{"container-title":"HP:0030275","author":[{"family":"abnormal scrotum position"},{"family":"Scrotum in a position other than the usual position inferior to the base of the penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030275","type":"entry-dictionary","title":"Ectopic scrotum"},{"container-title":"HP:0030276","author":[{"family":"underdeveloped scrotum"},{"family":"small scrotum"},{"family":"Apparently small scrotum for age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030276","type":"entry-dictionary","title":"Small scrotum"},{"container-title":"HP:0030277","author":[{"family":"Abnormal morphology of a vertebral pedical."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030277","type":"entry-dictionary","title":"Abnormal vertebral pedicle morphology"},{"container-title":"HP:0030278","author":[{"family":"Underdeveloped vertebral pedicle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030278","type":"entry-dictionary","title":"Hypoplastic vertebral pedicle"},{"container-title":"HP:0030279","author":[{"family":"Underdeveloped pedicle of the fifth lumbar vertebra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030279","type":"entry-dictionary","title":"Hypoplastic L5 vertebral pedicle"},{"container-title":"HP:0030280","author":[{"family":"rib gap"},{"family":"Radiolucent focal defect of a rib shaft."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030280","type":"entry-dictionary","title":"Rib gap"},{"container-title":"HP:0030281","author":[{"family":"Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030281","type":"entry-dictionary","title":"Cervical C3\/C4 vertebral fusion"},{"container-title":"HP:0030282","author":[{"family":"dorsal rib defect"},{"family":"Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030282","type":"entry-dictionary","title":"Posterior rib gap"},{"container-title":"HP:0030283","author":[{"family":"Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030283","type":"entry-dictionary","title":"Partial absence of the septum pellucidum"},{"container-title":"HP:0030284","author":[{"family":"triangular tongue"},{"family":"triangle shaped tongue"},{"family":"A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030284","type":"entry-dictionary","title":"Triangular tongue"},{"container-title":"HP:0030285","author":[{"family":"Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030285","type":"entry-dictionary","title":"Splayed superior cerebellar peduncle"},{"container-title":"HP:0030286","author":[{"family":"Atrophy of the superior cerebellar peduncle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030286","type":"entry-dictionary","title":"Atrophic superior cerebellar peduncle"},{"container-title":"HP:0030289","author":[{"family":"flattended end part of thigh bone"},{"family":"An abnormal flattening of an epiphysis of femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030289","type":"entry-dictionary","title":"Flattened femoral epiphysis"},{"container-title":"HP:0030290","author":[{"family":"absence of sacrum ossification"},{"family":"Lack of ossification of the sacrum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030290","type":"entry-dictionary","title":"Unossified sacrum"},{"container-title":"HP:0030291","author":[{"family":"Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030291","type":"entry-dictionary","title":"Lower-limb metaphyseal irregularity"},{"container-title":"HP:0030292","author":[{"family":"Irregularity of the normally smooth surface of a metaphysis of a tibia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030292","type":"entry-dictionary","title":"Tibial metaphyseal irregularity"},{"container-title":"HP:0030293","author":[{"family":"irregularity of wide portion of calf bone"},{"family":"Irregularity of the normally smooth surface of a metaphysis of a fibula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030293","type":"entry-dictionary","title":"Fibular metaphyseal irregularity"},{"container-title":"HP:0030294","author":[{"family":"Metaphyseal chondromatosis of tibia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030294","type":"entry-dictionary","title":"Metaphyseal chondromatosis of tibia"},{"container-title":"HP:0030295","author":[{"family":"Metaphyseal chondromatosis of femur"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030295","type":"entry-dictionary","title":"Metaphyseal chondromatosis of femur"},{"container-title":"HP:0030296","author":[{"family":"Metaphyseal chondromatosis of radius"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030296","type":"entry-dictionary","title":"Metaphyseal chondromatosis of radius"},{"container-title":"HP:0030297","author":[{"family":"Metaphyseal chondromatosis of ulna"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030297","type":"entry-dictionary","title":"Metaphyseal chondromatosis of ulna"},{"container-title":"HP:0030298","author":[{"family":"Metaphyseal chondromatosis of humerus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030298","type":"entry-dictionary","title":"Metaphyseal chondromatosis of humerus"},{"container-title":"HP:0030299","author":[{"family":"abnormality of wide portion of outermost thighbone"},{"family":"An anomaly of the metaphysis of the distal femur (close to the knee)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030299","type":"entry-dictionary","title":"Distal femoral metaphyseal abnormality"},{"container-title":"HP:0030300","author":[{"family":"10 pairs of ribs"},{"family":"Presence of only 10 (instead of the usual 12) pairs of ribs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030300","type":"entry-dictionary","title":"10 pairs of ribs"},{"container-title":"HP:0030301","author":[{"family":"An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030301","type":"entry-dictionary","title":"Abnormality of the anterior commissure"},{"container-title":"HP:0030302","author":[{"family":"Absence of the anterior commissure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030302","type":"entry-dictionary","title":"Agenesis of the anterior commissure"},{"container-title":"HP:0030303","author":[{"family":"Underdevelopment of the anterior commissure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030303","type":"entry-dictionary","title":"Hypoplastic anterior commissure"},{"container-title":"HP:0030304","author":[{"family":"A deviation from the normal number of vertebrae in the spinal column."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030304","type":"entry-dictionary","title":"Abnormal number of vertebrae"},{"container-title":"HP:0030305","author":[{"family":"Decreased number of vertebrae"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030305","type":"entry-dictionary","title":"Decreased number of vertebrae"},{"container-title":"HP:0030306","author":[{"family":"The presence of 11 instead of the normal 12 thoracic vertebrae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030306","type":"entry-dictionary","title":"11 thoracic vertebrae"},{"container-title":"HP:0030307","author":[{"family":"flared metaphysis of lower limb bone"},{"family":"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030307","type":"entry-dictionary","title":"Flared lower limb metaphysis"},{"container-title":"HP:0030308","author":[{"family":"flared outermost metaphysis of shinbone"},{"family":"flared outermost metaphysis of shankbone"},{"family":"The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030308","type":"entry-dictionary","title":"Flared distal tibial metaphysis"},{"container-title":"HP:0030309","author":[{"family":"flared outermost wide portion of of calf bone"},{"family":"The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030309","type":"entry-dictionary","title":"Flared distal fibular metaphysis"},{"container-title":"HP:0030310","author":[{"family":"dislocated arm joints"},{"family":"Displacement or malalignment of one or more joints in the upper extremity (arm)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030310","type":"entry-dictionary","title":"Upper extremity joint dislocation"},{"container-title":"HP:0030311","author":[{"family":"dislocated leg joints"},{"family":"Displacement or malalignment of one or more joints in the lower extremity (leg)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030311","type":"entry-dictionary","title":"Lower extremity joint dislocation"},{"container-title":"HP:0030312","author":[{"family":"obliteration of cranial cancellous bone"},{"family":"Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030312","type":"entry-dictionary","title":"Obliteration of the calvarial diploe"},{"container-title":"HP:0030313","author":[{"family":"An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030313","type":"entry-dictionary","title":"Abnormal periosteum morphology"},{"container-title":"HP:0030314","author":[{"family":"Abnormal deposition of periosteal bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030314","type":"entry-dictionary","title":"Periostosis"},{"container-title":"HP:0030318","author":[{"family":"inflammation of corners of the mouth"},{"family":"angular cheilosis"},{"family":"commissural cheilitis"},{"family":"angular stomatitis"},{"family":"inflammation of oral commisures"},{"family":"red and sore corners of the mouth"},{"family":"A type of inflammation of the lips involving one or both of the corners of the mouth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030318","type":"entry-dictionary","title":"Angular cheilitis"},{"container-title":"HP:0030319","author":[{"family":"weakness of facial musculature"},{"family":"weakness of face"},{"family":"face weakness"},{"family":"reduced facial muscle strength"},{"family":"myasthenia of facial muscles"},{"family":"decreased facial muscle strength"},{"family":"decreased strength of facial muscles"},{"family":"Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030319","type":"entry-dictionary","title":"Weakness of facial musculature"},{"container-title":"HP:0030320","author":[{"family":"An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030320","type":"entry-dictionary","title":"Increased intervertebral space"},{"container-title":"HP:0030321","author":[{"family":"abnormality of the vertebral artery"},{"family":"An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030321","type":"entry-dictionary","title":"Abnormal vertebral artery morphology"},{"container-title":"HP:0030322","author":[{"family":"Underdevelopment of the vertebral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030322","type":"entry-dictionary","title":"Vertebral artery hypoplasia"},{"container-title":"HP:0030323","author":[{"family":"Underdevelopment of the vertebral artery on one side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030323","type":"entry-dictionary","title":"Unilateral vertebral artery hypoplasia"},{"container-title":"HP:0030324","author":[{"family":"Underdevelopment of the vertebral artery on both sides."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030324","type":"entry-dictionary","title":"Bilateral vertebral artery hypoplasia"},{"container-title":"HP:0030325","author":[{"family":"Fissure within the spinal cord of the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030325","type":"entry-dictionary","title":"Cervicomedullary schisis"},{"container-title":"HP:0030326","author":[{"family":"An anomaly in the number of macrophages."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030326","type":"entry-dictionary","title":"Abnormal macrophage count"},{"container-title":"HP:0030327","author":[{"family":"An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030327","type":"entry-dictionary","title":"Abnormal osteoclast count"},{"container-title":"HP:0030328","author":[{"family":"Decreased number of osteoclasts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030328","type":"entry-dictionary","title":"Decreased osteoclast count"},{"container-title":"HP:0030329","author":[{"family":"retinal thinning"},{"family":"Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030329","type":"entry-dictionary","title":"Retinal thinning"},{"container-title":"HP:0030330","author":[{"family":"The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030330","type":"entry-dictionary","title":"Multinucleated giant chondrocytes in epiphyseal cartilage"},{"container-title":"HP:0030331","author":[{"family":"A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030331","type":"entry-dictionary","title":"Impaired stimulus-induced skin wrinkling"},{"container-title":"HP:0030333","author":[{"family":"A structuraly anomal of T cells that express an alpha-beta T cell receptor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030333","type":"entry-dictionary","title":"Abnormal alpha-beta T cell morphology"},{"container-title":"HP:0030334","author":[{"family":"A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030334","type":"entry-dictionary","title":"Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology"},{"container-title":"HP:0030335","author":[{"family":"A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030335","type":"entry-dictionary","title":"Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count"},{"container-title":"HP:0030336","author":[{"family":"absence of cd4+cd25+ t regulatory cells"},{"family":"absence of cd4+cd25+ tregs"},{"family":"Lack of CD4+CD25+ T regulatory cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030336","type":"entry-dictionary","title":"Absence of CD4-positive, CD25-positive regulatory T cells"},{"container-title":"HP:0030337","author":[{"family":"An increased number of Absence of CD4-positive, CD25-positive regulatory T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030337","type":"entry-dictionary","title":"Elevated CD4-positive, CD25-positive regulatory T cell count"},{"container-title":"HP:0030338","author":[{"family":"An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030338","type":"entry-dictionary","title":"Abnormal circulating gonadotropin level"},{"container-title":"HP:0030339","author":[{"family":"An reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030339","type":"entry-dictionary","title":"Decreased circulating gonadotropin level"},{"container-title":"HP:0030341","author":[{"family":"An reduction of the circulating level of follicle-stimulating hormone (FSH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030341","type":"entry-dictionary","title":"Decreased circulating follicle stimulating hormone level"},{"container-title":"HP:0030344","author":[{"family":"decreased circulating luteinising hormone level"},{"family":"A reduction in the circulating level of luteinizing hormone (LH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030344","type":"entry-dictionary","title":"Decreased circulating luteinizing hormone level"},{"container-title":"HP:0030345","author":[{"family":"abnormal luteinizing hormone level"},{"family":"An anomaly of the circulating level of luteinizing hormone (LH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030345","type":"entry-dictionary","title":"Abnormal circulating luteinizing hormone level"},{"container-title":"HP:0030346","author":[{"family":"An anomaly of the circulating level of follicle-stimulating hormone (FSH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030346","type":"entry-dictionary","title":"Abnormal circulating follicle-stimulating hormone level"},{"container-title":"HP:0030347","author":[{"family":"An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030347","type":"entry-dictionary","title":"Abnormal circulating androgen level"},{"container-title":"HP:0030348","author":[{"family":"An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030348","type":"entry-dictionary","title":"Increased circulating androgen level"},{"container-title":"HP:0030349","author":[{"family":"A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030349","type":"entry-dictionary","title":"Decreased circulating androgen level"},{"container-title":"HP:0030350","author":[{"family":"red-blue papule"},{"family":"A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030350","type":"entry-dictionary","title":"Erythematous papule"},{"container-title":"HP:0030351","author":[{"family":"A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030351","type":"entry-dictionary","title":"Urticarial plaque"},{"container-title":"HP:0030352","author":[{"family":"An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030352","type":"entry-dictionary","title":"Abnormal serum insulin-like growth factor 1 level"},{"container-title":"HP:0030353","author":[{"family":"A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030353","type":"entry-dictionary","title":"Decreased serum insulin-like growth factor 1"},{"container-title":"HP:0030354","author":[{"family":"Abnormal levels of interferon in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030354","type":"entry-dictionary","title":"Abnormal serum interferon level"},{"container-title":"HP:0030355","author":[{"family":"Abnormal levels of interferon gamma measured in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030355","type":"entry-dictionary","title":"Abnormal serum interferon-gamma level"},{"container-title":"HP:0030356","author":[{"family":"An elevation in the concentration of interferon gamma measured in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030356","type":"entry-dictionary","title":"Increased serum interferon-gamma level"},{"container-title":"HP:0030357","author":[{"family":"oat cell carcinoma of lung"},{"family":"oat cell lung cancer"},{"family":"small cell lung cancer"},{"family":"Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030357","type":"entry-dictionary","title":"Small cell lung carcinoma"},{"container-title":"HP:0030358","author":[{"family":"non-small cell lung cancer"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030358","type":"entry-dictionary","title":"Non-small cell lung carcinoma"},{"container-title":"HP:0030359","author":[{"family":"A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030359","type":"entry-dictionary","title":"Squamous cell lung carcinoma"},{"container-title":"HP:0030360","author":[{"family":"A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030360","type":"entry-dictionary","title":"Large cell lung carcinoma"},{"container-title":"HP:0030361","author":[{"family":"abnormality of icosanoid metabolism"},{"family":"An anomaly of the metabolism of an icosanoid (also know as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030361","type":"entry-dictionary","title":"Abnormality of eicosanoid metabolism"},{"container-title":"HP:0030362","author":[{"family":"A reduction in the level of carnitine in muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030362","type":"entry-dictionary","title":"Reduced muscle carnitine level"},{"container-title":"HP:0030363","author":[{"family":"Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030363","type":"entry-dictionary","title":"Primary Caesarian section"},{"container-title":"HP:0030364","author":[{"family":"Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030364","type":"entry-dictionary","title":"Secondary Caesarian section"},{"container-title":"HP:0030365","author":[{"family":"Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030365","type":"entry-dictionary","title":"Vaginal birth after Caesarian"},{"container-title":"HP:0030366","author":[{"family":"The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030366","type":"entry-dictionary","title":"Delivery by Odon device"},{"container-title":"HP:0030367","author":[{"family":"Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030367","type":"entry-dictionary","title":"Finger hyperphalangy"},{"container-title":"HP:0030368","author":[{"family":"hyperphalangy of index finger"},{"family":"An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030368","type":"entry-dictionary","title":"Hyperphalangy of the 2nd finger"},{"container-title":"HP:0030369","author":[{"family":"Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030369","type":"entry-dictionary","title":"Induced vaginal delivery"},{"container-title":"HP:0030370","author":[{"family":"A deviation in the normal proportion of naive B cells (CD19+\/CD27-\/IgD+\/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030370","type":"entry-dictionary","title":"Abnormal proportion of naive B cells"},{"container-title":"HP:0030371","author":[{"family":"An elevation above the normal proportion of naive B cells (CD19+\/CD27-\/IgD+\/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030371","type":"entry-dictionary","title":"Increased proportion of naive B cells"},{"container-title":"HP:0030372","author":[{"family":"A reduction below normal proportion of naive B cells (CD19+\/CD27-\/IgD+\/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030372","type":"entry-dictionary","title":"Decreased proportion of naive B cells"},{"container-title":"HP:0030373","author":[{"family":"A deviation of the normal proportion of memory B cells (CD19+\/CD27+) in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030373","type":"entry-dictionary","title":"Abnormal proportion of memory B cells"},{"container-title":"HP:0030374","author":[{"family":"A reduction in the normal proportion of memory B cells (CD19+\/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030374","type":"entry-dictionary","title":"Decreased proportion of memory B cells"},{"container-title":"HP:0030375","author":[{"family":"An elevation in the proportion of memory B cells (CD19+\/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030375","type":"entry-dictionary","title":"Increased proportion of memory B cells"},{"container-title":"HP:0030376","author":[{"family":"A deviation from normal proportion immature B cells (CD19+\/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+\/IgD+)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030376","type":"entry-dictionary","title":"Abnormal proportion of immature B cells"},{"container-title":"HP:0030377","author":[{"family":"An elevation in the proportion above normal of immature B cells (CD19+\/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+\/IgD+)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030377","type":"entry-dictionary","title":"Increased proportion of immature B cells"},{"container-title":"HP:0030378","author":[{"family":"A reduction in normal proportion of immature B cells (CD19+\/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+\/IgD+)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030378","type":"entry-dictionary","title":"Decreased proportion of immature B cells"},{"container-title":"HP:0030379","author":[{"family":"A deviation in the normal proportion of transitional B cells (CD19+\/CD38high\/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030379","type":"entry-dictionary","title":"Abnormal proportion of transitional B cells"},{"container-title":"HP:0030380","author":[{"family":"A reduction in the normal proportion of transitional B cells (CD19+\/CD38high\/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030380","type":"entry-dictionary","title":"Decreased proportion of transitional B cells"},{"container-title":"HP:0030381","author":[{"family":"An elevation in the normal proportion of transitional B cells (CD19+\/CD38high\/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030381","type":"entry-dictionary","title":"Increased proportion of transitional B cells"},{"container-title":"HP:0030383","author":[{"family":"A deviation of the normal proportion of marginal zone B cells (CD19+\/CD27+\/IgM+\/IgD+) in circulation relative to the total number of B cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030383","type":"entry-dictionary","title":"Abnormal proportion of marginal zone B cells"},{"container-title":"HP:0030384","author":[{"family":"A reduction in the normal proportion of marginal zone B cells (CD19+\/CD27+\/IgM+\/IgD+) in circulation relative to the total number of B cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030384","type":"entry-dictionary","title":"Decreased proportion of marginal zone B cells"},{"container-title":"HP:0030385","author":[{"family":"An elevation in the normal proportion fof marginal zone B cells (CD19+\/CD27+\/IgM+\/IgD+) in circulation relative to the total number of B cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030385","type":"entry-dictionary","title":"Increased proportion of marginal zone B cells"},{"container-title":"HP:0030386","author":[{"family":"A deviation of the normal proportion of class-switched memory B cells (CD19+\/CD27+\/IgM-\/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030386","type":"entry-dictionary","title":"Abnormal proportion of class-switched memory B cells"},{"container-title":"HP:0030387","author":[{"family":"An increase in the normal proportion of class-switched memory B cells (CD19+\/CD27+\/IgM+\/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030387","type":"entry-dictionary","title":"Increased proportion of class-switched memory B cells"},{"container-title":"HP:0030388","author":[{"family":"A reduction in the normal proportion of class-switched memory B cells (CD19+\/CD27+\/IgM+\/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030388","type":"entry-dictionary","title":"Decreased proportion of class-switched memory B cells"},{"container-title":"HP:0030389","author":[{"family":"An anomaly of the metabolism of thromboxane (CHEBI:26995). Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030389","type":"entry-dictionary","title":"Abnormality of thromboxane metabolism"},{"container-title":"HP:0030390","author":[{"family":"An anomaly of the metabolism of leukotriene (CHEBI:25029)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030390","type":"entry-dictionary","title":"Abnormality of leukotriene metabolism"},{"container-title":"HP:0030391","author":[{"family":"Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030391","type":"entry-dictionary","title":"Spoken Word Recognition Deficit"},{"container-title":"HP:0030392","author":[{"family":"Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030392","type":"entry-dictionary","title":"Choroid plexus carcinoma"},{"container-title":"HP:0030393","author":[{"family":"heffner tumor"},{"family":"aggressive papillary middle ear tumor"},{"family":"low-grade adenocarcinoma of endolymphatic sac origin"},{"family":"A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030393","type":"entry-dictionary","title":"Endolymphatic sac tumor"},{"container-title":"HP:0030394","author":[{"family":"Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030394","type":"entry-dictionary","title":"Fallopian tube carcinoma"},{"container-title":"HP:0030396","author":[{"family":"Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030396","type":"entry-dictionary","title":"Abnormal platelet granule secretion"},{"container-title":"HP:0030397","author":[{"family":"Abnormal release of dense granules from platelets."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030397","type":"entry-dictionary","title":"Abnormal platelet dense granule secretion"},{"container-title":"HP:0030398","author":[{"family":"Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030398","type":"entry-dictionary","title":"Abnormal platelet ATP dense granule secretion"},{"container-title":"HP:0030399","author":[{"family":"Abnormal release of alpha granule contents from platelets."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030399","type":"entry-dictionary","title":"Abnormal platelet alpha granule secretion"},{"container-title":"HP:0030400","author":[{"family":"Abnormal release of lysosome contents from platelets."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030400","type":"entry-dictionary","title":"Abnormal platelet lysosome secretion"},{"container-title":"HP:0030401","author":[{"family":"Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030401","type":"entry-dictionary","title":"Abnormal platelet dense granule ATP\/ADP ratio"},{"container-title":"HP:0030402","author":[{"family":"An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030402","type":"entry-dictionary","title":"Abnormal platelet aggregation"},{"container-title":"HP:0030403","author":[{"family":"Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030403","type":"entry-dictionary","title":"Spontaneous platelet aggregation"},{"container-title":"HP:0030404","author":[{"family":"An endocrine tumor of the pancreas that secretes excessive amounts of glucagon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030404","type":"entry-dictionary","title":"Glucagonoma"},{"container-title":"HP:0030405","author":[{"family":"A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030405","type":"entry-dictionary","title":"Pancreatic endocrine tumor"},{"container-title":"HP:0030406","author":[{"family":"A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030406","type":"entry-dictionary","title":"Primary peritoneal carcinoma"},{"container-title":"HP:0030407","author":[{"family":"A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030407","type":"entry-dictionary","title":"Pineocytoma"},{"container-title":"HP:0030408","author":[{"family":"pinealoblastoma"},{"family":"Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030408","type":"entry-dictionary","title":"Pineoblastoma"},{"container-title":"HP:0030409","author":[{"family":"transitional renal cell carcinoma"},{"family":"renal urothelial carcinoma"},{"family":"renal tcc"},{"family":"A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030409","type":"entry-dictionary","title":"Renal transitional cell carcinoma"},{"container-title":"HP:0030410","author":[{"family":"sebaceous carcinoma"},{"family":"A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030410","type":"entry-dictionary","title":"Sebaceous gland carcinoma"},{"container-title":"HP:0030411","author":[{"family":"A malignant epithelial tumor with a glandular organization that originates in the jejunum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030411","type":"entry-dictionary","title":"Jejunal adenocarcinoma"},{"container-title":"HP:0030412","author":[{"family":"A malignant epithelial tumor with a glandular organization that originates in the ileum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030412","type":"entry-dictionary","title":"Ileal adenocarcinoma"},{"container-title":"HP:0030413","author":[{"family":"A carcinoma derived from a squamous epithelial cell of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030413","type":"entry-dictionary","title":"Squamous cell carcinoma of the tongue"},{"container-title":"HP:0030414","author":[{"family":"A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030414","type":"entry-dictionary","title":"Verrucous cell carcinoma of the tongue"},{"container-title":"HP:0030415","author":[{"family":"spindle cell carcinoma of the tongue"},{"family":"Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030415","type":"entry-dictionary","title":"Sarcomatoid carcinoma of the tongue"},{"container-title":"HP:0030416","author":[{"family":"neoplasm of the vulva"},{"family":"tumor of the vulva"},{"family":"A tumor (abnormal growth of tissue) of the female external genital tract (vulva)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030416","type":"entry-dictionary","title":"Vulvar neoplasm"},{"container-title":"HP:0030417","author":[{"family":"vulval squamous cell carcinoma"},{"family":"A cancer that originates in the sqamous cells that line the surface of the vulva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030417","type":"entry-dictionary","title":"Squamous cell carcinoma of the vulva"},{"container-title":"HP:0030418","author":[{"family":"A type of vulvar cancer that originates from melanocytes of the vulva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030418","type":"entry-dictionary","title":"Vulvar melanoma"},{"container-title":"HP:0030419","author":[{"family":"A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030419","type":"entry-dictionary","title":"Bartholin gland carcinoma"},{"container-title":"HP:0030420","author":[{"family":"An adenocarcinoma arising in the vulva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030420","type":"entry-dictionary","title":"Vulvar adenocarcinoma"},{"container-title":"HP:0030421","author":[{"family":"A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030421","type":"entry-dictionary","title":"Epididymal neoplasm"},{"container-title":"HP:0030423","author":[{"family":"cyst on spleen"},{"family":"A closed sac located in the spleen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030423","type":"entry-dictionary","title":"Splenic cyst"},{"container-title":"HP:0030424","author":[{"family":"epididymal cysts"},{"family":"A smooth, extratesticular, spherical cyst in the head of the epididymis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030424","type":"entry-dictionary","title":"Epididymal cyst"},{"container-title":"HP:0030425","author":[{"family":"A cyst of the ovary that exhibits deposition of calcium salts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030425","type":"entry-dictionary","title":"Calcified ovarian cyst"},{"container-title":"HP:0030426","author":[{"family":"A benign central bone tumor composed of fibrous connective tissue within which bone is formed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030426","type":"entry-dictionary","title":"Ossifying fibroma"},{"container-title":"HP:0030427","author":[{"family":"A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030427","type":"entry-dictionary","title":"Ossifying fibroma of the jaw"},{"container-title":"HP:0030428","author":[{"family":"A myxoma originating in the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030428","type":"entry-dictionary","title":"Cutaneous myxoma"},{"container-title":"HP:0030429","author":[{"family":"A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030429","type":"entry-dictionary","title":"Juvenile nasopharyngeal angiofibroma"},{"container-title":"HP:0030430","author":[{"family":"nerve tumor"},{"family":"pinched nerve"},{"family":"A tumor made up of nerve cells and nerve fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030430","type":"entry-dictionary","title":"Neuroma"},{"container-title":"HP:0030431","author":[{"family":"osteocartilaginous exostoses"},{"family":"osteochondromas"},{"family":"A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030431","type":"entry-dictionary","title":"Osteochondroma"},{"container-title":"HP:0030432","author":[{"family":"A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030432","type":"entry-dictionary","title":"Chondroblastoma"},{"container-title":"HP:0030433","author":[{"family":"A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030433","type":"entry-dictionary","title":"Osteoid osteoma"},{"container-title":"HP:0030434","author":[{"family":"Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030434","type":"entry-dictionary","title":"Pilomatrixoma"},{"container-title":"HP:0030436","author":[{"family":"fibrofolliculomas"},{"family":"Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030436","type":"entry-dictionary","title":"Fibrofolliculoma"},{"container-title":"HP:0030437","author":[{"family":"anal canal tumor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030437","type":"entry-dictionary","title":"Anal canal neoplasm"},{"container-title":"HP:0030438","author":[{"family":"A squamous cell carcinoma that originates in the anal canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030438","type":"entry-dictionary","title":"Anal canal squamous cell carcinoma"},{"container-title":"HP:0030439","author":[{"family":"An adenoma carcinoma that originates in the anal canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030439","type":"entry-dictionary","title":"Anal canal adenocarcinoma"},{"container-title":"HP:0030440","author":[{"family":"A tumor of the anal margin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030440","type":"entry-dictionary","title":"Anal margin neoplasm"},{"container-title":"HP:0030441","author":[{"family":"An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030441","type":"entry-dictionary","title":"Anal margin Paget's disease"},{"container-title":"HP:0030442","author":[{"family":"A squamous cell carcinoma that originates in the skin of the anal margin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030442","type":"entry-dictionary","title":"Anal margin squamous cell carcinoma"},{"container-title":"HP:0030443","author":[{"family":"A basal cell carcinoma that originates in the anal margin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030443","type":"entry-dictionary","title":"Anal margin basal cell carcinoma"},{"container-title":"HP:0030444","author":[{"family":"A melanoma that originates in the anal margin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030444","type":"entry-dictionary","title":"Anal margin melanoma"},{"container-title":"HP:0030445","author":[{"family":"lung carcinoid tumor"},{"family":"A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030445","type":"entry-dictionary","title":"Pulmonary carcinoid tumor"},{"container-title":"HP:0030446","author":[{"family":"Atypical pulmonary carcinoid tumor"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030446","type":"entry-dictionary","title":"Atypical pulmonary carcinoid tumor"},{"container-title":"HP:0030447","author":[{"family":"cutaneous apudoma"},{"family":"neuroendocrine tumor of the skin"},{"family":"primary small cell carcinoma of the skin"},{"family":"anaplastic carcinoma of the skin"},{"family":"merkel cell cancer of the skin"},{"family":"neuroendocrine carcinoma of the skin"},{"family":"primary undifferentiated carcinoma of the skin"},{"family":"A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030447","type":"entry-dictionary","title":"Merkel cell skin cancer"},{"container-title":"HP:0030448","author":[{"family":"soft tissue sarcomas"},{"family":"A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030448","type":"entry-dictionary","title":"Soft tissue sarcoma"},{"container-title":"HP:0030449","author":[{"family":"Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030449","type":"entry-dictionary","title":"Therapeutic abortion"},{"container-title":"HP:0030450","author":[{"family":"A tumor that arises from an element of the autonomic nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030450","type":"entry-dictionary","title":"Neuroplasm of the autonomic nervous system"},{"container-title":"HP:0030451","author":[{"family":"A closed fluid filled sac originating from the mesentary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030451","type":"entry-dictionary","title":"Mesenteric cyst"},{"container-title":"HP:0030452","author":[{"family":"A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030452","type":"entry-dictionary","title":"Chylolymphatic mesenteric cyst"},{"container-title":"HP:0030453","author":[{"family":"Abnormal visual electrophysiology"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030453","type":"entry-dictionary","title":"Abnormal visual electrophysiology"},{"container-title":"HP:0030454","author":[{"family":"abnormal eog"},{"family":"The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030454","type":"entry-dictionary","title":"Abnormal electrooculogram"},{"container-title":"HP:0030455","author":[{"family":"Abnormality of pattern visual evoked potentials"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030455","type":"entry-dictionary","title":"Abnormality of pattern visual evoked potentials"},{"container-title":"HP:0030456","author":[{"family":"abnormality of pattern onset\/offset vep"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030456","type":"entry-dictionary","title":"Abnormality of pattern onset\/offset visual evoked potentials"},{"container-title":"HP:0030457","author":[{"family":"abnormal amplitude of pattern onset\/offset vep"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030457","type":"entry-dictionary","title":"Abnormal amplitude of pattern onset\/offset visual evoked potentials"},{"container-title":"HP:0030458","author":[{"family":"Abnormal timing of pattern onset\/offset visual evoked potentials"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030458","type":"entry-dictionary","title":"Abnormal timing of pattern onset\/offset visual evoked potentials"},{"container-title":"HP:0030460","author":[{"family":"Abnormal timing of pattern reversal visual evoked potentials"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030460","type":"entry-dictionary","title":"Abnormal timing of pattern reversal visual evoked potentials"},{"container-title":"HP:0030461","author":[{"family":"Abnormal timing of flash visual evoked potentials"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030461","type":"entry-dictionary","title":"Abnormal timing of flash visual evoked potentials"},{"container-title":"HP:0030462","author":[{"family":"Abnormal amplitude of flash visual evoked potentials"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030462","type":"entry-dictionary","title":"Abnormal amplitude of flash visual evoked potentials"},{"container-title":"HP:0030463","author":[{"family":"crossed asymmetry of flash visual evoked potentials"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030463","type":"entry-dictionary","title":"Asymmetrical distribution of flash visual evoked potentials"},{"container-title":"HP:0030464","author":[{"family":"crossed asymmetry of pattern reversal visual evoked potentials"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030464","type":"entry-dictionary","title":"Asymmetrical distribution of pattern reversal visual evoked potentials"},{"container-title":"HP:0030465","author":[{"family":"absent photopic (cone) responses on erg"},{"family":"non-detectable photopic erg"},{"family":"No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030465","type":"entry-dictionary","title":"Undetectable light-adapted electroretinogram"},{"container-title":"HP:0030466","author":[{"family":"Abnormal full-field electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030466","type":"entry-dictionary","title":"Abnormal full-field electroretinogram"},{"container-title":"HP:0030467","author":[{"family":"An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030467","type":"entry-dictionary","title":"Abnormal pattern electroretinogram"},{"container-title":"HP:0030468","author":[{"family":"Abnormal multifocal electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030468","type":"entry-dictionary","title":"Abnormal multifocal electroretinogram"},{"container-title":"HP:0030469","author":[{"family":"Abnormal dark-adapted electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030469","type":"entry-dictionary","title":"Abnormal dark-adapted electroretinogram"},{"container-title":"HP:0030470","author":[{"family":"Abnormal dark-adapted bright flash electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030470","type":"entry-dictionary","title":"Abnormal dark-adapted bright flash electroretinogram"},{"container-title":"HP:0030471","author":[{"family":"Abnormal dark-adapted dim flash electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030471","type":"entry-dictionary","title":"Abnormal dark-adapted dim flash electroretinogram"},{"container-title":"HP:0030472","author":[{"family":"Abnormal light-adapted single flash electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030472","type":"entry-dictionary","title":"Abnormal light-adapted single flash electroretinogram"},{"container-title":"HP:0030473","author":[{"family":"abnormal light-adapted flicker erg"},{"family":"abnormal light-adapted 30hz flicker electroretinogram"},{"family":"abnormal light-adapted flicker electroretinogram"},{"family":"abnormal light-adapted 30hz flicker erg"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030473","type":"entry-dictionary","title":"Abnormal light-adapted flicker electroretinogram"},{"container-title":"HP:0030474","author":[{"family":"Undetectable dark-adapted electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030474","type":"entry-dictionary","title":"Undetectable dark-adapted electroretinogram"},{"container-title":"HP:0030475","author":[{"family":"Abnormal timing of dark-adapted dim flash electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030475","type":"entry-dictionary","title":"Abnormal timing of dark-adapted dim flash electroretinogram"},{"container-title":"HP:0030476","author":[{"family":"Abnormal amplitude of dark-adapted dim flash electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030476","type":"entry-dictionary","title":"Abnormal amplitude of dark-adapted dim flash electroretinogram"},{"container-title":"HP:0030477","author":[{"family":"Abnormal timing of dark-adapted bright flash electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030477","type":"entry-dictionary","title":"Abnormal timing of dark-adapted bright flash 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electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030481","type":"entry-dictionary","title":"Abnormal amplitude of light-adapted single flash electroretinogram"},{"container-title":"HP:0030482","author":[{"family":"Abnormal timing of light-adapted single flash electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030482","type":"entry-dictionary","title":"Abnormal timing of light-adapted single flash electroretinogram"},{"container-title":"HP:0030483","author":[{"family":"An abnormal reduction in the amplitude of the a-wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030483","type":"entry-dictionary","title":"Reduced amplitude of dark-adapted bright flash electroretinogram a-wave"},{"container-title":"HP:0030484","author":[{"family":"Supernormal dark-adapted bright flash electroretinogram b-wave"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030484","type":"entry-dictionary","title":"Supernormal dark-adapted bright flash electroretinogram b-wave"},{"container-title":"HP:0030485","author":[{"family":"Abnormal amplitude of pattern electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030485","type":"entry-dictionary","title":"Abnormal amplitude of pattern electroretinogram"},{"container-title":"HP:0030486","author":[{"family":"Abnormal timing of pattern electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030486","type":"entry-dictionary","title":"Abnormal timing of pattern electroretinogram"},{"container-title":"HP:0030487","author":[{"family":"Abnormal P50\/N95 ratio of pattern electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030487","type":"entry-dictionary","title":"Abnormal P50\/N95 ratio of pattern electroretinogram"},{"container-title":"HP:0030488","author":[{"family":"Abnormal central response of multifocal electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030488","type":"entry-dictionary","title":"Abnormal central response of multifocal electroretinogram"},{"container-title":"HP:0030489","author":[{"family":"Abnormal paracentral response of multifocal electroretinogram"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030489","type":"entry-dictionary","title":"Abnormal paracentral response of multifocal electroretinogram"},{"container-title":"HP:0030490","author":[{"family":"Exudative vitreoretinopathy"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030490","type":"entry-dictionary","title":"Exudative vitreoretinopathy"},{"container-title":"HP:0030491","author":[{"family":"Atrophy of the capillary lamina of choroid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030491","type":"entry-dictionary","title":"Choriocapillaris atrophy"},{"container-title":"HP:0030493","author":[{"family":"An anomaly of the pigmentation in the fovea centralis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030493","type":"entry-dictionary","title":"Abnormality of foveal pigmentation"},{"container-title":"HP:0030494","author":[{"family":"Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030494","type":"entry-dictionary","title":"Macular microaneurysm\/hemorrhage"},{"container-title":"HP:0030495","author":[{"family":"Any structural anomaly of the blood vessels of the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030495","type":"entry-dictionary","title":"Abnormality of macular vasculature"},{"container-title":"HP:0030496","author":[{"family":"macular exudates"},{"family":"macular exudation"},{"family":"Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030496","type":"entry-dictionary","title":"Macular exudate"},{"container-title":"HP:0030497","author":[{"family":"Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030497","type":"entry-dictionary","title":"Macular cotton wool spot"},{"container-title":"HP:0030498","author":[{"family":"Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030498","type":"entry-dictionary","title":"Macular thickening"},{"container-title":"HP:0030499","author":[{"family":"lipid accumulation in macula"},{"family":"Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030499","type":"entry-dictionary","title":"Macular drusen"},{"container-title":"HP:0030500","author":[{"family":"Yellow\/white lesions of the macula"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030500","type":"entry-dictionary","title":"Yellow\/white lesions of the macula"},{"container-title":"HP:0030501","author":[{"family":"Crystalline deposits in the macula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030501","type":"entry-dictionary","title":"Macular crystals"},{"container-title":"HP:0030502","author":[{"family":"Splitting of the neuroretinal layers of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030502","type":"entry-dictionary","title":"Retinoschisis"},{"container-title":"HP:0030503","author":[{"family":"juxtafoveal telangiectasia"},{"family":"parafoveal 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OCT"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030620","type":"entry-dictionary","title":"Inner retinal layer loss on macular OCT"},{"container-title":"HP:0030621","author":[{"family":"Foveal inner retinal layer loss on macular OCT"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030621","type":"entry-dictionary","title":"Foveal inner retinal layer loss on macular OCT"},{"container-title":"HP:0030622","author":[{"family":"Abnormal foveal pit on macular OCT"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030622","type":"entry-dictionary","title":"Abnormal foveal pit on macular OCT"},{"container-title":"HP:0030623","author":[{"family":"Intraretinal hyporeflective spaces on macular OCT"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030623","type":"entry-dictionary","title":"Intraretinal hyporeflective spaces on macular OCT"},{"container-title":"HP:0030624","author":[{"family":"Subretinal hyporeflective spaces on macular 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OCT"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030628","type":"entry-dictionary","title":"Foveal subretinal hyporeflective spaces on macular OCT"},{"container-title":"HP:0030629","author":[{"family":"Perifoveal ring of hyperautofluorescence"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030629","type":"entry-dictionary","title":"Perifoveal ring of hyperautofluorescence"},{"container-title":"HP:0030630","author":[{"family":"Irregular central macular autofluorescence"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030630","type":"entry-dictionary","title":"Irregular central macular autofluorescence"},{"container-title":"HP:0030631","author":[{"family":"Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030631","type":"entry-dictionary","title":"Hyperautofluorescent macular lesion"},{"container-title":"HP:0030632","author":[{"family":"hypo-autofluorescent macular lesion"},{"family":"Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030632","type":"entry-dictionary","title":"Hypoautofluorescent macular lesion"},{"container-title":"HP:0030633","author":[{"family":"Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030633","type":"entry-dictionary","title":"Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence"},{"container-title":"HP:0030634","author":[{"family":"Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030634","type":"entry-dictionary","title":"Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence"},{"container-title":"HP:0030635","author":[{"family":"Retinal dystrophy with early macular involvement"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030635","type":"entry-dictionary","title":"Retinal dystrophy with early macular involvement"},{"container-title":"HP:0030636","author":[{"family":"Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electoretinogram (ERG), or fluorescein angiogram abnormalities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030636","type":"entry-dictionary","title":"Occult macular dystrophy"},{"container-title":"HP:0030637","author":[{"family":"cone dysfunction"},{"family":"Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030637","type":"entry-dictionary","title":"Cone dysfunction syndrome"},{"container-title":"HP:0030638","author":[{"family":"Congenital stationary night blindness with normal fundus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030638","type":"entry-dictionary","title":"Congenital stationary night blindness with normal fundus"},{"container-title":"HP:0030639","author":[{"family":"Congenital stationary night blindness with abnormal fundus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030639","type":"entry-dictionary","title":"Congenital stationary night blindness with abnormal fundus"},{"container-title":"HP:0030640","author":[{"family":"Complete congenital stationary night blindness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030640","type":"entry-dictionary","title":"Complete congenital stationary night blindness"},{"container-title":"HP:0030641","author":[{"family":"Incomplete congenital stationary night blindness"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030641","type":"entry-dictionary","title":"Incomplete congenital stationary night blindness"},{"container-title":"HP:0030642","author":[{"family":"Fundus albipunctatus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030642","type":"entry-dictionary","title":"Fundus albipunctatus"},{"container-title":"HP:0030643","author":[{"family":"Vitelliform-like retinal lesions"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030643","type":"entry-dictionary","title":"Vitelliform-like retinal lesions"},{"container-title":"HP:0030644","author":[{"family":"blind spot enlargment"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030644","type":"entry-dictionary","title":"Blind-spot enlargment"},{"container-title":"HP:0030645","author":[{"family":"Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030645","type":"entry-dictionary","title":"Central"},{"container-title":"HP:0030646","author":[{"family":"Peripheral"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030646","type":"entry-dictionary","title":"Peripheral"},{"container-title":"HP:0030647","author":[{"family":"Paracentral"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030647","type":"entry-dictionary","title":"Paracentral"},{"container-title":"HP:0030648","author":[{"family":"mid-peripheral"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030648","type":"entry-dictionary","title":"Midperipheral"},{"container-title":"HP:0030649","author":[{"family":"Pericentral"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030649","type":"entry-dictionary","title":"Pericentral"},{"container-title":"HP:0030650","author":[{"family":"Focal"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030650","type":"entry-dictionary","title":"Focal"},{"container-title":"HP:0030651","author":[{"family":"Multifocal"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030651","type":"entry-dictionary","title":"Multifocal"},{"container-title":"HP:0030652","author":[{"family":"Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030652","type":"entry-dictionary","title":"Vitreous haze"},{"container-title":"HP:0030654","author":[{"family":"Any cystic lesion associated with the umbilical cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030654","type":"entry-dictionary","title":"Umbilical cord cyst"},{"container-title":"HP:0030655","author":[{"family":"An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030655","type":"entry-dictionary","title":"Umbilical cord knot"},{"container-title":"HP:0030656","author":[{"family":"Focal dilation of the umbilical vein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030656","type":"entry-dictionary","title":"Umbilical vein varix"},{"container-title":"HP:0030657","author":[{"family":"umbilical cord haematoma"},{"family":"Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030657","type":"entry-dictionary","title":"Umbilical cord hematoma"},{"container-title":"HP:0030658","author":[{"family":"marginal cord insertion"},{"family":"Insertion of the umbilical cord within 2 cm from the placental edge."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030658","type":"entry-dictionary","title":"Marginal umbilical cord insertion"},{"container-title":"HP:0030659","author":[{"family":"Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030659","type":"entry-dictionary","title":"Velamentous cord insertion"},{"container-title":"HP:0030660","author":[{"family":"Branching of the umbilical cord before its insertion into the placenta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030660","type":"entry-dictionary","title":"Furcate cord insertion"},{"container-title":"HP:0030661","author":[{"family":"Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030661","type":"entry-dictionary","title":"Vitreous snowballs"},{"container-title":"HP:0030662","author":[{"family":"The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030662","type":"entry-dictionary","title":"Vitreous inflammatory cells"},{"container-title":"HP:0030663","author":[{"family":"Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030663","type":"entry-dictionary","title":"Optically empty vitreous"},{"container-title":"HP:0030664","author":[{"family":"Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030664","type":"entry-dictionary","title":"Beevor's sign"},{"container-title":"HP:0030665","author":[{"family":"holmes' tremor"},{"family":"Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030665","type":"entry-dictionary","title":"Rubral tremor"},{"container-title":"HP:0030666","author":[{"family":"retinal neovascularisation"},{"family":"In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030666","type":"entry-dictionary","title":"Retinal neovascularization"},{"container-title":"HP:0030667","author":[{"family":"A type of retinal neovascularization that affects the periphery of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030667","type":"entry-dictionary","title":"Peripheral retinal neovascularization"},{"container-title":"HP:0030668","author":[{"family":"A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030668","type":"entry-dictionary","title":"Periorbital dermoid cyst"},{"container-title":"HP:0030669","author":[{"family":"An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030669","type":"entry-dictionary","title":"Abnormal morphology of the ocular adnexa"},{"container-title":"HP:0030670","author":[{"family":"A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030670","type":"entry-dictionary","title":"Hamartoma of the orbital region"},{"container-title":"HP:0030671","author":[{"family":"abnormality of the common tendinous ring"},{"family":"Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also know as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030671","type":"entry-dictionary","title":"Abnormal common tendinous ring morphology"},{"container-title":"HP:0030672","author":[{"family":"The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030672","type":"entry-dictionary","title":"Asteroid hyalosis"},{"container-title":"HP:0030673","author":[{"family":"A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030673","type":"entry-dictionary","title":"Erosive vitreoretinopathy"},{"container-title":"HP:0030674","author":[{"family":"Onset prior to birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030674","type":"entry-dictionary","title":"Antenatal onset"},{"container-title":"HP:0030675","author":[{"family":"Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030675","type":"entry-dictionary","title":"Contracture of proximal interphalangeal joints of 2nd-5th fingers"},{"container-title":"HP:0030676","author":[{"family":"devil ear"},{"family":"Sharp pointed superior portion of the ear, with variable overfolding of the helix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030676","type":"entry-dictionary","title":"Satyr ear"},{"container-title":"HP:0030677","author":[{"family":"A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030677","type":"entry-dictionary","title":"Mozart ear"},{"container-title":"HP:0030679","author":[{"family":"A hypopigmented spot in the shape of a leaf from the mountain ash tree."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030679","type":"entry-dictionary","title":"Ash-leaf spot"},{"container-title":"HP:0030680","author":[{"family":"heart defect"},{"family":"cardiovascular malformations"},{"family":"Any structural anomaly of the heart and great vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030680","type":"entry-dictionary","title":"Abnormality of cardiovascular system morphology"},{"container-title":"HP:0030681","author":[{"family":"Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030681","type":"entry-dictionary","title":"Abnormal morphology of myocardial trabeculae"},{"container-title":"HP:0030682","author":[{"family":"Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030682","type":"entry-dictionary","title":"Left ventricular noncompaction"},{"container-title":"HP:0030683","author":[{"family":"An inflammation of the vagina that can result in discharge, itching and pain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030683","type":"entry-dictionary","title":"Vaginitis"},{"container-title":"HP:0030684","author":[{"family":"A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030684","type":"entry-dictionary","title":"Abnormal adiponectin level"},{"container-title":"HP:0030685","author":[{"family":"A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030685","type":"entry-dictionary","title":"Decreased adiponectin level"},{"container-title":"HP:0030686","author":[{"family":"An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030686","type":"entry-dictionary","title":"Increased adiponectin level"},{"container-title":"HP:0030687","author":[{"family":"A deviation from the normal concentration of glucagon in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030687","type":"entry-dictionary","title":"Abnormal glucagon level"},{"container-title":"HP:0030688","author":[{"family":"An elevated concentration of glucagon in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030688","type":"entry-dictionary","title":"Increased glucagon level"},{"container-title":"HP:0030689","author":[{"family":"A reduced concentration of glucagon in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030689","type":"entry-dictionary","title":"Decreased glucagon level"},{"container-title":"HP:0030690","author":[{"family":"A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030690","type":"entry-dictionary","title":"Gingival cleft"},{"container-title":"HP:0030691","author":[{"family":"a condition in which both eyes beat ourward simultaneously."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030691","type":"entry-dictionary","title":"Divergence nystagmus"},{"container-title":"HP:0030692","author":[{"family":"brain tumour"},{"family":"brain tumor"},{"family":"A benign or malignant neoplasm that arises from or metastasizes to the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030692","type":"entry-dictionary","title":"Brain neoplasm"},{"container-title":"HP:0030693","author":[{"family":"pineal parenchymal tumor"},{"family":"pineal parenchymal tumour"},{"family":"A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030693","type":"entry-dictionary","title":"Supratentorial neoplasm"},{"container-title":"HP:0030694","author":[{"family":"Pineal parenchymal cell neoplasm"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030694","type":"entry-dictionary","title":"Pineal parenchymal cell neoplasm"},{"container-title":"HP:0030706","author":[{"family":"sublingual cyst"},{"family":"sublingual ptyalocele"},{"family":"A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030706","type":"entry-dictionary","title":"Ranula"},{"container-title":"HP:0030707","author":[{"family":"unilateral pulmonary agenesis"},{"family":"Lack of development of one lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030707","type":"entry-dictionary","title":"Unilateral lung agenesis"},{"container-title":"HP:0030708","author":[{"family":"The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030708","type":"entry-dictionary","title":"Myeloschisis"},{"container-title":"HP:0030709","author":[{"family":"Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030709","type":"entry-dictionary","title":"Myelocystocele"},{"container-title":"HP:0030710","author":[{"family":"A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030710","type":"entry-dictionary","title":"Lipomeningocele"},{"container-title":"HP:0030711","author":[{"family":"Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030711","type":"entry-dictionary","title":"Hydrocolpos"},{"container-title":"HP:0030712","author":[{"family":"asherman syndrome"},{"family":"Adhesions or scar tissue that form inside the cavity of the uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030712","type":"entry-dictionary","title":"Uterine synechiae"},{"container-title":"HP:0030713","author":[{"family":"median prosencephalic arteriovenous fistula"},{"family":"vein of galen malformation"},{"family":"vein of galen aneurysm"},{"family":"Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030713","type":"entry-dictionary","title":"Vein of Galen aneurysmal malformation"},{"container-title":"HP:0030714","author":[{"family":"breus' mole"},{"family":"A large maternal clot that separates the chorionic place from the villous chorion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030714","type":"entry-dictionary","title":"Subchorionic thrombohematoma"},{"container-title":"HP:0030715","author":[{"family":"congenital bronchial atresia"},{"family":"A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030715","type":"entry-dictionary","title":"Bronchial atresia"},{"container-title":"HP:0030716","author":[{"family":"Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030716","type":"entry-dictionary","title":"Acrania"},{"container-title":"HP:0030717","author":[{"family":"Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030717","type":"entry-dictionary","title":"Meconium peritonitis"},{"container-title":"HP:0030718","author":[{"family":"dilated right atrium"},{"family":"right atrial dilatation"},{"family":"enlarged heart right atrium"},{"family":"Increase in size of the right atrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030718","type":"entry-dictionary","title":"Right atrial enlargement"},{"container-title":"HP:0030719","author":[{"family":"unguarded tricuspid valve orifice"},{"family":"rudimentary tricuspid valve leaflets"},{"family":"A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030719","type":"entry-dictionary","title":"Unguarded tricuspid valve"},{"container-title":"HP:0030720","author":[{"family":"Cyst on the surface of the placenta consisting of amnion and chorion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030720","type":"entry-dictionary","title":"Subchorionic septal cyst"},{"container-title":"HP:0030721","author":[{"family":"Phocomelia involving all four extremities."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030721","type":"entry-dictionary","title":"Tetraphocomelia"},{"container-title":"HP:0030722","author":[{"family":"Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030722","type":"entry-dictionary","title":"Ectopic liver"},{"container-title":"HP:0030723","author":[{"family":"Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030723","type":"entry-dictionary","title":"Congenital megalourethra"},{"container-title":"HP:0030724","author":[{"family":"cyst of the central nervous system"},{"family":"A fluid-filled sac (cyst) located within the central nervous system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030724","type":"entry-dictionary","title":"Central nervous system cyst"},{"container-title":"HP:0030725","author":[{"family":"The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030725","type":"entry-dictionary","title":"Neurenteric cyst"},{"container-title":"HP:0030726","author":[{"family":"A neurenteric cyst located in the spine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030726","type":"entry-dictionary","title":"Spinal neurenteric cyst"},{"container-title":"HP:0030727","author":[{"family":"A neurenteric cyst located within the skull."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030727","type":"entry-dictionary","title":"Intracranial neurenteric cyst"},{"container-title":"HP:0030728","author":[{"family":"Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030728","type":"entry-dictionary","title":"Meromelia"},{"container-title":"HP:0030729","author":[{"family":"frontoethmoid meningocele"},{"family":"A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030729","type":"entry-dictionary","title":"Frontoethmoidal meningocele"},{"container-title":"HP:0030730","author":[{"family":"A herniation of meninges through a congenital bone defect in the skull in the parietal region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030730","type":"entry-dictionary","title":"Parietal meningocele"},{"container-title":"HP:0030731","author":[{"family":"A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030731","type":"entry-dictionary","title":"Carcinoma"},{"container-title":"HP:0030732","author":[{"family":"tricuspid valve dysplasia"},{"family":"A congenital malformation of the tricuspid valve characterized by leaflet deformation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030732","type":"entry-dictionary","title":"Dysplastic tricuspid valve"},{"container-title":"HP:0030733","author":[{"family":"An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030733","type":"entry-dictionary","title":"Vesicoallantoic abdominal wall defect"},{"container-title":"HP:0030735","author":[{"family":"Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030735","type":"entry-dictionary","title":"Ureterovesical junction obstruction"},{"container-title":"HP:0030736","author":[{"family":"A teratoma arising in the sacro-coccygeal region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030736","type":"entry-dictionary","title":"Sacrococcygeal teratoma"},{"container-title":"HP:0030737","author":[{"family":"A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030737","type":"entry-dictionary","title":"Altman type I sacrococcygeal teratoma"},{"container-title":"HP:0030738","author":[{"family":"A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030738","type":"entry-dictionary","title":"Altman type II sacrococcygeal teratoma"},{"container-title":"HP:0030739","author":[{"family":"A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030739","type":"entry-dictionary","title":"Altman type III sacrococcygeal teratoma"},{"container-title":"HP:0030740","author":[{"family":"right ventricular anomalous muscle bundle"},{"family":"An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030740","type":"entry-dictionary","title":"Anomalous muscle bundle of the right ventricle"},{"container-title":"HP:0030741","author":[{"family":"teratoma of the mediastinum"},{"family":"A teratoma located with the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030741","type":"entry-dictionary","title":"Mediastinal teratoma"},{"container-title":"HP:0030742","author":[{"family":"mittendorf dot"},{"family":"This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030742","type":"entry-dictionary","title":"Glial remnants posterior to lens"},{"container-title":"HP:0030743","author":[{"family":"bergmeister papilla"},{"family":"Persistanced of a posterior remnant of the hyaloid artery located at the optic disc."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030743","type":"entry-dictionary","title":"Glial remnants anterior to the optic disc"},{"container-title":"HP:0030744","author":[{"family":"A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030744","type":"entry-dictionary","title":"Hyaloid vascular remnant and retrolental mass"},{"container-title":"HP:0030745","author":[{"family":"congenital ductus arteriosus aneurysm"},{"family":"A saccular or fusiform dilation and elongation of the ductus arteriosus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030745","type":"entry-dictionary","title":"Dilatation of the ductus arteriosus"},{"container-title":"HP:0030746","author":[{"family":"Bleeding into the ventricles of the brain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030746","type":"entry-dictionary","title":"Intraventricular hemorrhage"},{"container-title":"HP:0030747","author":[{"family":"Intraventricular hemorrhage that occurs in a premature infant."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030747","type":"entry-dictionary","title":"Preterm intraventricular hemorrhage"},{"container-title":"HP:0030748","author":[{"family":"germinal matrix hemorrhage"},{"family":"Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region\/germline matrix which is seen in the caudothalamic groove."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030748","type":"entry-dictionary","title":"Grade I preterm intraventricular hemorrhage"},{"container-title":"HP:0030749","author":[{"family":"Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030749","type":"entry-dictionary","title":"Grade II preterm intraventricular hemorrhage"},{"container-title":"HP:0030750","author":[{"family":"Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030750","type":"entry-dictionary","title":"Grade III preterm intraventricular hemorrhage"},{"container-title":"HP:0030751","author":[{"family":"Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030751","type":"entry-dictionary","title":"Grade IV preterm intraventricular hemorrhage"},{"container-title":"HP:0030752","author":[{"family":"timo cyst"},{"family":"A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030752","type":"entry-dictionary","title":"Dacryocystocele"},{"container-title":"HP:0030753","author":[{"family":"single-twin demise"},{"family":"Loss of one twin occurring after midgestation (17 weeks gestation)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030753","type":"entry-dictionary","title":"Intrauterine fetal demise of one twin after midgestation"},{"container-title":"HP:0030754","author":[{"family":"A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030754","type":"entry-dictionary","title":"Allantoic cyst"},{"container-title":"HP:0030755","author":[{"family":"A teratoma located in the craniofacial region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030755","type":"entry-dictionary","title":"Craniofacial teratoma"},{"container-title":"HP:0030756","author":[{"family":"red teeth"},{"family":"Reddish, brown opalescent discoloration of teeth in normal light."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030756","type":"entry-dictionary","title":"Erythrodontia"},{"container-title":"HP:0030757","author":[{"family":"dentoalveolar abscess"},{"family":"dental abscess"},{"family":"A pocket of pus located within a region of a tooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030757","type":"entry-dictionary","title":"Tooth abscess"},{"container-title":"HP:0030758","author":[{"family":"A tooth abscess that occurs at the tip of the root (apex) of a tooth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030758","type":"entry-dictionary","title":"Periapical tooth abscess"},{"container-title":"HP:0030759","author":[{"family":"fat cell hypertrophy"},{"family":"An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030759","type":"entry-dictionary","title":"Adipocyte hypertrophy"},{"container-title":"HP:0030760","author":[{"family":"kidney fibrosis"},{"family":"Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030760","type":"entry-dictionary","title":"Renal fibrosis"},{"container-title":"HP:0030762","author":[{"family":"Dissolution or attenuation of mesangial matrix and degeneration of mesangial cells. In essence, mesangiolysis is an injurious process which affects the glomerular mesangium without causing obvious damage to the capillary basement membranes. The matrix swells, loosens, and eventually dissolves; the mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030762","type":"entry-dictionary","title":"Mesangiolysis"},{"container-title":"HP:0030763","author":[{"family":"amniotic shelf"},{"family":"A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030763","type":"entry-dictionary","title":"Amniotic Sheet"},{"container-title":"HP:0030764","author":[{"family":"Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030764","type":"entry-dictionary","title":"Ochronosis"},{"container-title":"HP:0030765","author":[{"family":"pavor nocturnus"},{"family":"sleep terrors"},{"family":"night terror"},{"family":"Episodes of intense fear, screaming and flailing although affected individuals are still asleep."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030765","type":"entry-dictionary","title":"Sleep terror"},{"container-title":"HP:0030766","author":[{"family":"otalgia"},{"family":"pain in the ear"},{"family":"ear pain"},{"family":"Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030766","type":"entry-dictionary","title":"Ear pain"},{"container-title":"HP:0030767","author":[{"family":"Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030767","type":"entry-dictionary","title":"Epignathus"},{"container-title":"HP:0030769","author":[{"family":"A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030769","type":"entry-dictionary","title":"Exencephaly"},{"container-title":"HP:0030770","author":[{"family":"A neural tube defect in which both the brain and spinal cord remain open to varying degrees."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030770","type":"entry-dictionary","title":"Craniorachischisis"},{"container-title":"HP:0030771","author":[{"family":"Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030771","type":"entry-dictionary","title":"Mallet finger"},{"container-title":"HP:0030772","author":[{"family":"Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030772","type":"entry-dictionary","title":"Proximal femoral focal deficiency"},{"container-title":"HP:0030773","author":[{"family":"An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030773","type":"entry-dictionary","title":"Internuclear ophthalmoplegia"},{"container-title":"HP:0030774","author":[{"family":"The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030774","type":"entry-dictionary","title":"Mitochondrial swelling"},{"container-title":"HP:0030775","author":[{"family":"An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030775","type":"entry-dictionary","title":"Modic type vertebral endplate changes"},{"container-title":"HP:0030776","author":[{"family":"modic type 1 vertebral endplate changes"},{"family":"An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030776","type":"entry-dictionary","title":"Modic type I vertebral endplate changes"},{"container-title":"HP:0030777","author":[{"family":"modic type 2 vertebral endplate changes"},{"family":"An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030777","type":"entry-dictionary","title":"Modic type II vertebral endplate changes"},{"container-title":"HP:0030778","author":[{"family":"modic type 3 vertebral endplate changes"},{"family":"An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modif type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030778","type":"entry-dictionary","title":"Modic type III vertebral endplate changes"},{"container-title":"HP:0030779","author":[{"family":"Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030779","type":"entry-dictionary","title":"Ethmocephaly"},{"container-title":"HP:0030780","author":[{"family":"An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030780","type":"entry-dictionary","title":"Abnormality of the protein C anticoagulant pathway"},{"container-title":"HP:0030781","author":[{"family":"A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030781","type":"entry-dictionary","title":"Increased circulating free fatty acid level"},{"container-title":"HP:0030782","author":[{"family":"An abnormal amount of any of the interleukins, a class of cytokines, in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030782","type":"entry-dictionary","title":"Abnormal serum interleukin level"},{"container-title":"HP:0030783","author":[{"family":"An increased concentration of interleukin-6 in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030783","type":"entry-dictionary","title":"Increased serum interleukin-6"},{"container-title":"HP:0030784","author":[{"family":"amnesic aphasia"},{"family":"anomic aphasia"},{"family":"nominal aphasia"},{"family":"amnestic aphasia"},{"family":"An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030784","type":"entry-dictionary","title":"Anomia"},{"container-title":"HP:0030785","author":[{"family":"intrathoracic cystic hygroma"},{"family":"thoracic cystic lymphangioma"},{"family":"A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030785","type":"entry-dictionary","title":"Mediastinal cystic lymphangioma"},{"container-title":"HP:0030786","author":[{"family":"Perceived flashes of light."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030786","type":"entry-dictionary","title":"Photopsia"},{"container-title":"HP:0030787","author":[{"family":"Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030787","type":"entry-dictionary","title":"Cerumen abnormality"},{"container-title":"HP:0030788","author":[{"family":"Blockage of the external auditory canal by a buildup of earwax."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030788","type":"entry-dictionary","title":"Impacted cerumen"},{"container-title":"HP:0030789","author":[{"family":"An increased quantity of earwax."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030789","type":"entry-dictionary","title":"Excessive cerumen"},{"container-title":"HP:0030790","author":[{"family":"abnormal cerumen colour"},{"family":"abnormal cerumen pigmentation"},{"family":"An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030790","type":"entry-dictionary","title":"Abnormal cerumen color"},{"container-title":"HP:0030791","author":[{"family":"A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030791","type":"entry-dictionary","title":"Abnormal jaw morphology"},{"container-title":"HP:0030792","author":[{"family":"A tumor originating in the jaw (mandible or maxilla)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030792","type":"entry-dictionary","title":"Jaw neoplasm"},{"container-title":"HP:0030793","author":[{"family":"Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030793","type":"entry-dictionary","title":"Jaw swelling"},{"container-title":"HP:0030794","author":[{"family":"abnormal c peptide level"},{"family":"An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030794","type":"entry-dictionary","title":"Abnormal C-peptide level"},{"container-title":"HP:0030795","author":[{"family":"reduced c peptide level"},{"family":"A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030795","type":"entry-dictionary","title":"Reduced C-peptide level"},{"container-title":"HP:0030796","author":[{"family":"increased c peptide level"},{"family":"An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030796","type":"entry-dictionary","title":"Increased C-peptide level"},{"container-title":"HP:0030797","author":[{"family":"A diminished volume of the central part of the bed nucleus of the stria terminalis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030797","type":"entry-dictionary","title":"Reduced volume of central subdivision of bed nucleus of stria terminalis"},{"container-title":"HP:0030798","author":[{"family":"The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030798","type":"entry-dictionary","title":"Abnormality of the bed nucleus of stria terminalis"},{"container-title":"HP:0030799","author":[{"family":"Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030799","type":"entry-dictionary","title":"Scaphocephaly"},{"container-title":"HP:0030800","author":[{"family":"An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030800","type":"entry-dictionary","title":"Abnormal visual accommodation"},{"container-title":"HP:0030801","author":[{"family":"A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030801","type":"entry-dictionary","title":"Reduced visual accommodation"},{"container-title":"HP:0030802","author":[{"family":"Inferior malposition of the lower eyelid margin without eyelid eversion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030802","type":"entry-dictionary","title":"Lower eyelid retraction"},{"container-title":"HP:0030803","author":[{"family":"Abnormal flat nail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030803","type":"entry-dictionary","title":"Platonychia"},{"container-title":"HP:0030804","author":[{"family":"Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030804","type":"entry-dictionary","title":"Trachyonychia"},{"container-title":"HP:0030805","author":[{"family":"Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030805","type":"entry-dictionary","title":"Absent lunula"},{"container-title":"HP:0030806","author":[{"family":"Nails whose growth is quicker than normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030806","type":"entry-dictionary","title":"Fast-growing nails"},{"container-title":"HP:0030807","author":[{"family":"Nail whose growth pattern or speed deviates from normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030807","type":"entry-dictionary","title":"Abnormal nail growth"},{"container-title":"HP:0030808","author":[{"family":"The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030808","type":"entry-dictionary","title":"Ragged cuticle"},{"container-title":"HP:0030809","author":[{"family":"Any structural anomaly of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030809","type":"entry-dictionary","title":"Abnormal tongue morphology"},{"container-title":"HP:0030810","author":[{"family":"Any functional anomaly of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030810","type":"entry-dictionary","title":"Abnormal tongue physiology"},{"container-title":"HP:0030811","author":[{"family":"painful tongue"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030811","type":"entry-dictionary","title":"Tongue pain"},{"container-title":"HP:0030812","author":[{"family":"tonsillar hypertrophy"},{"family":"enlargment of tonsils"},{"family":"tonsils large\/hypertrophy"},{"family":"Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030812","type":"entry-dictionary","title":"Enlarged tonsils"},{"container-title":"HP:0030813","author":[{"family":"tonsillar hypoplasia"},{"family":"hypoplastic tonsils"},{"family":"Lack of observable tonsillar tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030813","type":"entry-dictionary","title":"Absent tonsils"},{"container-title":"HP:0030814","author":[{"family":"orange tonsils"},{"family":"orange coloured tonsils"},{"family":"A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030814","type":"entry-dictionary","title":"Orange discoloured tonsils"},{"container-title":"HP:0030815","author":[{"family":"A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030815","type":"entry-dictionary","title":"Lipoma of the tongue"},{"container-title":"HP:0030816","author":[{"family":"gum recession"},{"family":"receding gums"},{"family":"The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030816","type":"entry-dictionary","title":"Gingival recession"},{"container-title":"HP:0030817","author":[{"family":"Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030817","type":"entry-dictionary","title":"Beaked nails"},{"container-title":"HP:0030818","author":[{"family":"median nail dystrophy"},{"family":"The presense of a depressed line (\"canal\") in the center of the nail."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030818","type":"entry-dictionary","title":"Central nail canal"},{"container-title":"HP:0030819","author":[{"family":"upward angulation of nail"},{"family":"upslanting nail"},{"family":"Nails that slope upward at the free edge."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030819","type":"entry-dictionary","title":"Ski jump nail"},{"container-title":"HP:0030820","author":[{"family":"Eyelid partly covered by skin when eyes are open."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030820","type":"entry-dictionary","title":"Hooded eyelid"},{"container-title":"HP:0030821","author":[{"family":"Lower eyelid partly covered by skin when eyes are open."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030821","type":"entry-dictionary","title":"Hooded lower eyelid"},{"container-title":"HP:0030822","author":[{"family":"Upper eyelid partly covered by skin when eyes are open."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030822","type":"entry-dictionary","title":"Hooded upper eyelid"},{"container-title":"HP:0030823","author":[{"family":"thick sclera"},{"family":"Increased dimension of the sclera in the anterior-posterior axis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030823","type":"entry-dictionary","title":"Scleral thickening"},{"container-title":"HP:0030824","author":[{"family":"mizuo-nakamura phenomenon"},{"family":"Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030824","type":"entry-dictionary","title":"Mizuo phenomenon"},{"container-title":"HP:0030825","author":[{"family":"foveal reflex absent"},{"family":"loss of foveal reflex"},{"family":"Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030825","type":"entry-dictionary","title":"Absent foveal reflex"},{"container-title":"HP:0030826","author":[{"family":"fasciculation of the eyelid"},{"family":"muscle twitches in eyelid"},{"family":"muscle twitches in eye lid"},{"family":"eyelid fluttering"},{"family":"Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030826","type":"entry-dictionary","title":"Eyelid fasciculation"},{"container-title":"HP:0030828","author":[{"family":"wheezing"},{"family":"A high-pitched whistling sound associated with labored breathing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030828","type":"entry-dictionary","title":"Wheezing"},{"container-title":"HP:0030829","author":[{"family":"An anomalous (adventitious) sound produced by the breathing process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030829","type":"entry-dictionary","title":"Abnormal breath sound"},{"container-title":"HP:0030830","author":[{"family":"crackles"},{"family":"crepitations"},{"family":"Abnormal breath sounds characterized by discontinuous clicking or rattling."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030830","type":"entry-dictionary","title":"Rales"},{"container-title":"HP:0030831","author":[{"family":"Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030831","type":"entry-dictionary","title":"Rhonchi"},{"container-title":"HP:0030832","author":[{"family":"Fiber- or rope-like opacities located within the vitreous humor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030832","type":"entry-dictionary","title":"Vitreous strands"},{"container-title":"HP:0030833","author":[{"family":"neck pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030833","type":"entry-dictionary","title":"Neck pain"},{"container-title":"HP:0030834","author":[{"family":"shoulder pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030834","type":"entry-dictionary","title":"Shoulder pain"},{"container-title":"HP:0030835","author":[{"family":"elbow pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030835","type":"entry-dictionary","title":"Elbow pain"},{"container-title":"HP:0030836","author":[{"family":"wrist pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030836","type":"entry-dictionary","title":"Wrist pain"},{"container-title":"HP:0030837","author":[{"family":"finger pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030837","type":"entry-dictionary","title":"Finger pain"},{"container-title":"HP:0030838","author":[{"family":"hip pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030838","type":"entry-dictionary","title":"Hip pain"},{"container-title":"HP:0030839","author":[{"family":"pain under knee cap"},{"family":"knee pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030839","type":"entry-dictionary","title":"Knee pain"},{"container-title":"HP:0030840","author":[{"family":"ankle pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030840","type":"entry-dictionary","title":"Ankle pain"},{"container-title":"HP:0030841","author":[{"family":"toe pain"},{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030841","type":"entry-dictionary","title":"Toe pain"},{"container-title":"HP:0030842","author":[{"family":"Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030842","type":"entry-dictionary","title":"Choking episodes"},{"container-title":"HP:0030843","author":[{"family":"amyloid cardiomyopathy"},{"family":"Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030843","type":"entry-dictionary","title":"Cardiac amyloidosis"},{"container-title":"HP:0030844","author":[{"family":"Absent response to a pattern electroretinogram (PERG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030844","type":"entry-dictionary","title":"Undetectable pattern electroretinogram"},{"container-title":"HP:0030845","author":[{"family":"Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030845","type":"entry-dictionary","title":"Heliotrope rash of eyelid"},{"container-title":"HP:0030846","author":[{"family":"An anomaly of venous function."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030846","type":"entry-dictionary","title":"Abnormality of venous physiology"},{"container-title":"HP:0030847","author":[{"family":"An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030847","type":"entry-dictionary","title":"Abnormal jugular venous pressure"},{"container-title":"HP:0030848","author":[{"family":"Increased jugular venous pressure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030848","type":"entry-dictionary","title":"Elevated jugular venous pressure"},{"container-title":"HP:0030849","author":[{"family":"The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030849","type":"entry-dictionary","title":"Hepatojugular reflux"},{"container-title":"HP:0030850","author":[{"family":"An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030850","type":"entry-dictionary","title":"Abnormal pulse pressure"},{"container-title":"HP:0030851","author":[{"family":"Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030851","type":"entry-dictionary","title":"Low pulse pressure"},{"container-title":"HP:0030852","author":[{"family":"Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030852","type":"entry-dictionary","title":"High pulse pressure"},{"container-title":"HP:0030853","author":[{"family":"heterotaxia"},{"family":"An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030853","type":"entry-dictionary","title":"Heterotaxy"},{"container-title":"HP:0030854","author":[{"family":"staphyloma"},{"family":"A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030854","type":"entry-dictionary","title":"Scleral staphyloma"},{"container-title":"HP:0030855","author":[{"family":"A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030855","type":"entry-dictionary","title":"Anterior staphyloma"},{"container-title":"HP:0030856","author":[{"family":"A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030856","type":"entry-dictionary","title":"Posterior staphyloma"},{"container-title":"HP:0030857","author":[{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030857","type":"entry-dictionary","title":"Eye movement-induced pain"},{"container-title":"HP:0030858","author":[{"family":"A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030858","type":"entry-dictionary","title":"Addictive behavior"},{"container-title":"HP:0030859","author":[{"family":"top1 antibody positivity"},{"family":"topoisomerase (dna) i antibody positivity"},{"family":"The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030859","type":"entry-dictionary","title":"Topoisomerase I antibody positivity"},{"container-title":"HP:0030860","author":[{"family":"abnormal csf a[beta]42 level"},{"family":"Abnormal concentration of amyloid in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030860","type":"entry-dictionary","title":"Abnormal CSF amyloid level"},{"container-title":"HP:0030861","author":[{"family":"Reduced concentration of amyloid in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030861","type":"entry-dictionary","title":"Decreased CSF amyloid level"},{"container-title":"HP:0030862","author":[{"family":"Increased concentration of amyloid in the cerebrospinal fluid (CSF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030862","type":"entry-dictionary","title":"Elevated CSF amyloid level"},{"container-title":"HP:0030863","author":[{"family":"Widening of the nostrils upon inhalation as a manifestation of respiratory distress."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030863","type":"entry-dictionary","title":"Nasal flaring"},{"container-title":"HP:0030864","author":[{"family":"chest retractions"},{"family":"A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030864","type":"entry-dictionary","title":"Intercostal retractions"},{"container-title":"HP:0030865","author":[{"family":"Abnormal increased size of the elbow joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030865","type":"entry-dictionary","title":"Large elbow"},{"container-title":"HP:0030866","author":[{"family":"Abnormally increased size of the knee joint."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030866","type":"entry-dictionary","title":"Large knee"},{"container-title":"HP:0030867","author":[{"family":"misaligned eyes"},{"family":"eyes at different heights"},{"family":"unequal eye height"},{"family":"The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030867","type":"entry-dictionary","title":"Vertical orbital dystopia"},{"container-title":"HP:0030868","author":[{"family":"monorchidism"},{"family":"Having only one testis in the scrotum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030868","type":"entry-dictionary","title":"Monorchism"},{"container-title":"HP:0030869","author":[{"family":"An abnormality of XY sexual development characterized by the absence of both testes at birth."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030869","type":"entry-dictionary","title":"Anorchism"},{"container-title":"HP:0030870","author":[{"family":"abnormality of zygapophyseal joint"},{"family":"abnormality of zygapophysial joint"},{"family":"abnormality of z-joint"},{"family":"abnormality of apophyseal joint"},{"family":"An anomaly of the small joints located between and behind adjacent vertebrae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030870","type":"entry-dictionary","title":"Abnormality of spinal facet joint"},{"container-title":"HP:0030871","author":[{"family":"facet arthritis"},{"family":"Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030871","type":"entry-dictionary","title":"Facet joint arthrosis"},{"container-title":"HP:0030872","author":[{"family":"An abnormality of the cardiac ventricular function."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030872","type":"entry-dictionary","title":"Abnormal cardiac ventricular function"},{"container-title":"HP:0030873","author":[{"family":"anti-centromere antibody positivity"},{"family":"aca positivity"},{"family":"The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030873","type":"entry-dictionary","title":"Anticentromere antibody positivity"},{"container-title":"HP:0030874","author":[{"family":"Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030874","type":"entry-dictionary","title":"Oxygen desaturation on exertion"},{"container-title":"HP:0030875","author":[{"family":"abnormality of respiratory circulation"},{"family":"abnormal pulmonary circulation"},{"family":"A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and rturns oxygenated blood back to the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030875","type":"entry-dictionary","title":"Abnormality of pulmonary circulation"},{"container-title":"HP:0030876","author":[{"family":"increased pulmonary arterial wedge pressure"},{"family":"increased pulmonary artery occlusion pressure"},{"family":"Pulmonary capillary wedge pressure (PCWP) above 15mmHg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030876","type":"entry-dictionary","title":"Increased pulmonary capillary wedge pressure"},{"container-title":"HP:0030877","author":[{"family":"obstructive deficit on pulmonary function test"},{"family":"FEV1\/FVC less than 0.7 (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030877","type":"entry-dictionary","title":"Obstructive deficit on pulmonary function testing"},{"container-title":"HP:0030878","author":[{"family":"abnormal pulmonary function test"},{"family":"Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030878","type":"entry-dictionary","title":"Abnormality on pulmonary function testing"},{"container-title":"HP:0030879","author":[{"family":"Presence of thickening of the interlobular septa of the lungs as seen on a CT scan."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030879","type":"entry-dictionary","title":"Interlobular septal thickening on pulmonary HRCT"},{"container-title":"HP:0030880","author":[{"family":"raynaud disease"},{"family":"raynaud's phenomenon"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030880","type":"entry-dictionary","title":"Raynaud phenomenon"},{"container-title":"HP:0030881","author":[{"family":"Trapping and compression of the rotator cuff tendons during shoulder movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030881","type":"entry-dictionary","title":"Shoulder impingement"},{"container-title":"HP:0030882","author":[{"family":"coronary artery ectasia"},{"family":"coronary artery dilatation"},{"family":"coronary arterial dilatation"},{"family":"Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030882","type":"entry-dictionary","title":"Coronary artery aneurysm"},{"container-title":"HP:0030883","author":[{"family":"femoral acetabular impingement"},{"family":"Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030883","type":"entry-dictionary","title":"Femoroacetabular Impingement"},{"container-title":"HP:0030884","author":[{"family":"gastro-jejunal tube feeding in infancy"},{"family":"Feeding problem necessitating gastrojejunal tube feeding."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030884","type":"entry-dictionary","title":"Gastrojejunal tube feeding in infancy"},{"container-title":"HP:0030885","author":[{"family":"Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030885","type":"entry-dictionary","title":"Recurrent parasitic infections"},{"container-title":"HP:0030886","author":[{"family":"A anomaly in the rate of apoptosis in lymphocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030886","type":"entry-dictionary","title":"Abnormal lymphocyte apoptosis"},{"container-title":"HP:0030887","author":[{"family":"A elevation in the rate of apoptosis in lymphocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030887","type":"entry-dictionary","title":"Increased lymphocyte apoptosis"},{"container-title":"HP:0030888","author":[{"family":"The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030888","type":"entry-dictionary","title":"C3 nephritic factor positivity"},{"container-title":"HP:0030889","author":[{"family":"short bowel"},{"family":"Substantially shortened length of the small intestine as a result of a developmental defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030889","type":"entry-dictionary","title":"Congenital shortened small intestine"},{"container-title":"HP:0030890","author":[{"family":"white matter hyperintensity"},{"family":"A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030890","type":"entry-dictionary","title":"Hyperintensity of cerebral white matter on MRI"},{"container-title":"HP:0030891","author":[{"family":"periventricular cerebral white matter hyperdensities"},{"family":"periventricular white matter hyperintensities"},{"family":"pvwmh"},{"family":"Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030891","type":"entry-dictionary","title":"Periventricular white matter hyperdensities"},{"container-title":"HP:0030892","author":[{"family":"dwmh"},{"family":"deep white matter hyperintensities"},{"family":"Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030892","type":"entry-dictionary","title":"Deep cerebral white matter hyperdensities"},{"container-title":"HP:0030893","author":[{"family":"Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030893","type":"entry-dictionary","title":"Abnormal response to short acting pulmonary vasodilator"},{"container-title":"HP:0030894","author":[{"family":"No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030894","type":"entry-dictionary","title":"Insufficient response to short acting pulmonary vasodilator"},{"container-title":"HP:0030895","author":[{"family":"An anomaly of the muscular contractions that propel food though the gastrointestinal tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030895","type":"entry-dictionary","title":"Abnormal gastrointestinal motility"},{"container-title":"HP:0030896","author":[{"family":"Abnormal gastrointestinal transit time"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030896","type":"entry-dictionary","title":"Abnormal gastrointestinal transit time"},{"container-title":"HP:0030897","author":[{"family":"A reduction in the length of time required for food to pass through the intestines."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030897","type":"entry-dictionary","title":"Decreased intestinal transit time"},{"container-title":"HP:0030898","author":[{"family":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030898","type":"entry-dictionary","title":"Pruritis on abdomen"},{"container-title":"HP:0030899","author":[{"family":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030899","type":"entry-dictionary","title":"Pruritis on hand"},{"container-title":"HP:0030900","author":[{"family":"itchy feet"},{"family":"itchy foot"},{"family":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030900","type":"entry-dictionary","title":"Pruritus on foot"},{"container-title":"HP:0030901","author":[{"family":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030901","type":"entry-dictionary","title":"Pruritis on breast"},{"container-title":"HP:0030902","author":[{"family":"A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030902","type":"entry-dictionary","title":"Palmomental reflex"},{"container-title":"HP:0030903","author":[{"family":"A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030903","type":"entry-dictionary","title":"Grasp reflex"},{"container-title":"HP:0030904","author":[{"family":"myerson's sign"},{"family":"A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030904","type":"entry-dictionary","title":"Glabellar reflex"},{"container-title":"HP:0030905","author":[{"family":"A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout [NCBI Books:NBK395]."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030905","type":"entry-dictionary","title":"Snout reflex"},{"container-title":"HP:0030906","author":[{"family":"persistent  nutritive  suckle  swallow"},{"family":"A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched [NCBI Books:NBK395]."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030906","type":"entry-dictionary","title":"Suck reflex"},{"container-title":"HP:0030907","author":[{"family":"Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030907","type":"entry-dictionary","title":"Thunderclap headache"},{"container-title":"HP:0030908","author":[{"family":"anti-lkm-1 positive"},{"family":"The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030908","type":"entry-dictionary","title":"Liver kidney microsome type 1 antibody positivity"},{"container-title":"HP:0030909","author":[{"family":"anti-liver cytosol antibody-1 positivity"},{"family":"The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030909","type":"entry-dictionary","title":"Anti-liver cytosolic antigen type 1 antibody positivity"},{"container-title":"HP:0030911","author":[{"family":"Two clitorides located side by side."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030911","type":"entry-dictionary","title":"Bifid clitoris"},{"container-title":"HP:0030912","author":[{"family":"Supernumerary clitoris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030912","type":"entry-dictionary","title":"Duplicated clitoris"},{"container-title":"HP:0030913","author":[{"family":"scrotum-like labia majora"},{"family":"Marked rugae formation of the skin of the labia majora."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030913","type":"entry-dictionary","title":"Exaggerated rugosity of the labia majora"},{"container-title":"HP:0030914","author":[{"family":"An anomaly of the wave-like muscle contractions of the digestive tract."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030914","type":"entry-dictionary","title":"Abnormal peristalsis"},{"container-title":"HP:0030915","author":[{"family":"oedema of the cerebellum"},{"family":"cerebellar oedema"},{"family":"Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030915","type":"entry-dictionary","title":"Cerebellar edema"},{"container-title":"HP:0030917","author":[{"family":"Low APGAR score"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030917","type":"entry-dictionary","title":"Low APGAR score"},{"container-title":"HP:0030918","author":[{"family":"low one-minute apgar score"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030918","type":"entry-dictionary","title":"Low 1-minute APGAR score"},{"container-title":"HP:0030919","author":[{"family":"low five-minute apgar score"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030919","type":"entry-dictionary","title":"Low 5-minute APGAR score"},{"container-title":"HP:0030920","author":[{"family":"5-minute APGAR score of 0"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030920","type":"entry-dictionary","title":"5-minute APGAR score of 0"},{"container-title":"HP:0030921","author":[{"family":"5-minute APGAR score of 1"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030921","type":"entry-dictionary","title":"5-minute APGAR score of 1"},{"container-title":"HP:0030922","author":[{"family":"5-minute APGAR score of 2"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030922","type":"entry-dictionary","title":"5-minute APGAR score of 2"},{"container-title":"HP:0030923","author":[{"family":"5-minute APGAR score of 3"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030923","type":"entry-dictionary","title":"5-minute APGAR score of 3"},{"container-title":"HP:0030924","author":[{"family":"5-minute APGAR score of 4"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030924","type":"entry-dictionary","title":"5-minute APGAR score of 4"},{"container-title":"HP:0030925","author":[{"family":"5-minute APGAR score of 5"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030925","type":"entry-dictionary","title":"5-minute APGAR score of 5"},{"container-title":"HP:0030926","author":[{"family":"5-minute APGAR score of 6"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030926","type":"entry-dictionary","title":"5-minute APGAR score of 6"},{"container-title":"HP:0030927","author":[{"family":"1-minute APGAR score of 0"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030927","type":"entry-dictionary","title":"1-minute APGAR score of 0"},{"container-title":"HP:0030928","author":[{"family":"1-minute APGAR score of 1"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030928","type":"entry-dictionary","title":"1-minute APGAR score of 1"},{"container-title":"HP:0030929","author":[{"family":"1-minute APGAR score of 2"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030929","type":"entry-dictionary","title":"1-minute APGAR score of 2"},{"container-title":"HP:0030930","author":[{"family":"1-minute APGAR score of 3"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030930","type":"entry-dictionary","title":"1-minute APGAR score of 3"},{"container-title":"HP:0030931","author":[{"family":"1-minute APGAR score of 4"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030931","type":"entry-dictionary","title":"1-minute APGAR score of 4"},{"container-title":"HP:0030932","author":[{"family":"1-minute APGAR score of 5"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030932","type":"entry-dictionary","title":"1-minute APGAR score of 5"},{"container-title":"HP:0030933","author":[{"family":"1-minute APGAR score of 6"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030933","type":"entry-dictionary","title":"1-minute APGAR score of 6"},{"container-title":"HP:0030934","author":[{"family":"oral erythroplasia"},{"family":"A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030934","type":"entry-dictionary","title":"Oral erythroplakia"},{"container-title":"HP:0030935","author":[{"family":"A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030935","type":"entry-dictionary","title":"Abnormality of intestinal smooth muscle morphology"},{"container-title":"HP:0030936","author":[{"family":"muscularis propria malformation"},{"family":"segmental additional circular muscle coat"},{"family":"Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030936","type":"entry-dictionary","title":"Abnormal layering of muscularis propria"},{"container-title":"HP:0030937","author":[{"family":"The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030937","type":"entry-dictionary","title":"Fibrotic muscularis propria"},{"container-title":"HP:0030938","author":[{"family":"Aggregates of stainable substances (proteins) in the nuclei of enteric neurons."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030938","type":"entry-dictionary","title":"Enteric intraneuronal nuclear inclusion bodies"},{"container-title":"HP:0030939","author":[{"family":"thickened but nonswollen eyelids"},{"family":"An increased thickness of the eyelid not related to acute inflammation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030939","type":"entry-dictionary","title":"Palpebral thickening"},{"container-title":"HP:0030943","author":[{"family":"vulvar pain"},{"family":"Pain in the vulvar area"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030943","type":"entry-dictionary","title":"Vulvodynia"},{"container-title":"HP:0030946","author":[{"family":"Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030946","type":"entry-dictionary","title":"Conjunctival papillae"},{"container-title":"HP:0030947","author":[{"family":"Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030947","type":"entry-dictionary","title":"Conjunctival follicles"},{"container-title":"HP:0030948","author":[{"family":"Increased activity of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030948","type":"entry-dictionary","title":"Elevated gamma-glutamyltransferase activity"},{"container-title":"HP:0030949","author":[{"family":"An abnormal accumulation of protein in the glomerulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030949","type":"entry-dictionary","title":"Glomerular deposits"},{"container-title":"HP:0030950","author":[{"family":"An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030950","type":"entry-dictionary","title":"Pulmonary venous hypertension"},{"container-title":"HP:0030951","author":[{"family":"Excessive formation of fibrous bands of scar tissue in between muscle fibers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030951","type":"entry-dictionary","title":"Skeletal muscle fibrosis"},{"container-title":"HP:0030952","author":[{"family":"Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030952","type":"entry-dictionary","title":"Birdshot choroidal lesions"},{"container-title":"HP:0030953","author":[{"family":"conjunctival hyperaemia"},{"family":"conjunctival vascular congestion"},{"family":"conjunctival injection"},{"family":"Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030953","type":"entry-dictionary","title":"Conjunctival hyperemia"},{"container-title":"HP:0030955","author":[{"family":"An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symoptoms when not drinking alcohol."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030955","type":"entry-dictionary","title":"Alcoholism"},{"container-title":"HP:0030956","author":[{"family":"An anomaly of the electrical conduction physiology of the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030956","type":"entry-dictionary","title":"Abnormality of cardiovascular system electrophysiology"},{"container-title":"HP:0030957","author":[{"family":"ventricular septal dilatation"},{"family":"A bowing (bulding to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030957","type":"entry-dictionary","title":"Ventricular septal aneurysm"},{"container-title":"HP:0030958","author":[{"family":"interventricular septum membranous part aneurysm"},{"family":"aneurysm of the membranous ventricular septum"},{"family":"Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030958","type":"entry-dictionary","title":"Membranous ventricular septal aneurysm"},{"container-title":"HP:0030959","author":[{"family":"aneurysm of the muscular ventricular septum"},{"family":"Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030959","type":"entry-dictionary","title":"Muscular ventricular septal aneurysm"},{"container-title":"HP:0030961","author":[{"family":"Lens of the eye is smaller than normal and spherically shaped."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030961","type":"entry-dictionary","title":"Microspherophakia"},{"container-title":"HP:0030962","author":[{"family":"A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030962","type":"entry-dictionary","title":"Abnormal morphology of the great vessels"},{"container-title":"HP:0030964","author":[{"family":"Abnormal aortic physiology"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030964","type":"entry-dictionary","title":"Abnormal aortic physiology"},{"container-title":"HP:0030965","author":[{"family":"increased aortic stiffness"},{"family":"The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030965","type":"entry-dictionary","title":"Aortic stiffness"},{"container-title":"HP:0030966","author":[{"family":"An abnormality of the structure of the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030966","type":"entry-dictionary","title":"Abnormal pulmonary artery morphology"},{"container-title":"HP:0030967","author":[{"family":"An abnormality of the function of the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030967","type":"entry-dictionary","title":"Abnormal pulmonary artery physiology"},{"container-title":"HP:0030968","author":[{"family":"An abnormality of the structure of the pulmonary veins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030968","type":"entry-dictionary","title":"Abnormal pulmonary vein morphology"},{"container-title":"HP:0030969","author":[{"family":"An abnormality of the function of the pulmonary veins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030969","type":"entry-dictionary","title":"Abnormal pulmonary vein physiology"},{"container-title":"HP:0030970","author":[{"family":"An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030970","type":"entry-dictionary","title":"Abnormal vena cava physiology"},{"container-title":"HP:0030972","author":[{"family":"A chronic deviation from normal pressure in the systemic arterial system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030972","type":"entry-dictionary","title":"Abnormal systemic blood pressure"},{"container-title":"HP:0030973","author":[{"family":"exercise-induced malaise"},{"family":"postexertional fatigue"},{"family":"exercise-induced fatigue"},{"family":"A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030973","type":"entry-dictionary","title":"Postexertional malaise"},{"container-title":"HP:0030974","author":[{"family":"cryptospermia"},{"family":"A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030974","type":"entry-dictionary","title":"Cryptozoospermia"},{"container-title":"HP:0030975","author":[{"family":"vaulted pontine tegmentum"},{"family":"An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030975","type":"entry-dictionary","title":"Pontine tegmental cap"},{"container-title":"HP:0030976","author":[{"family":"A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030976","type":"entry-dictionary","title":"Abnormal factor VIII activity"},{"container-title":"HP:0030977","author":[{"family":"Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030977","type":"entry-dictionary","title":"Increased factor VIII activity"},{"container-title":"HP:0030978","author":[{"family":"A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030978","type":"entry-dictionary","title":"Decreased CSF\/serum albumin ratio"},{"container-title":"HP:0030979","author":[{"family":"dilated choroidal vessels"},{"family":"Enlargement of the large blood vessels in the choroid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030979","type":"entry-dictionary","title":"Dilatation of large choroidal vessels"},{"container-title":"HP:0030980","author":[{"family":"An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030980","type":"entry-dictionary","title":"Reduced brain glutamine level by MRS"},{"container-title":"HP:0030981","author":[{"family":"A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integretiy of the BBB with leakage of albumin into the CSF."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030981","type":"entry-dictionary","title":"Abnormal CSF\/serum albumin ratio"},{"container-title":"HP:0030983","author":[{"family":"A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030983","type":"entry-dictionary","title":"Ovarian thecoma"},{"container-title":"HP:0030984","author":[{"family":"A deviation from the normal concentration of serum bile acid concentration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030984","type":"entry-dictionary","title":"Abnormal serum bile acid concentration"},{"container-title":"HP:0030985","author":[{"family":"A reduction in the concentration of bile acid in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030985","type":"entry-dictionary","title":"Decreased serum bile concentration"},{"container-title":"HP:0030986","author":[{"family":"Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030986","type":"entry-dictionary","title":"Biliary epithelial hyperplasia"},{"container-title":"HP:0030987","author":[{"family":"Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030987","type":"entry-dictionary","title":"Suppurative cholangitis"},{"container-title":"HP:0030988","author":[{"family":"Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030988","type":"entry-dictionary","title":"Granulomatous cholangitis"},{"container-title":"HP:0030989","author":[{"family":"Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030989","type":"entry-dictionary","title":"Lymphoid cholangitis"},{"container-title":"HP:0030990","author":[{"family":"Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030990","type":"entry-dictionary","title":"Pleomorphic cholangitis"},{"container-title":"HP:0030991","author":[{"family":"fibrous cholangitis"},{"family":"Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030991","type":"entry-dictionary","title":"Sclerosing cholangitis"},{"container-title":"HP:0030992","author":[{"family":"Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and and transports them to the duodenum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030992","type":"entry-dictionary","title":"Abnormal pancreatic duct morphology"},{"container-title":"HP:0030993","author":[{"family":"duplicated pancreatic duct"},{"family":"A congenital anomaly characterized by the presence of two separate pancreatic ducts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030993","type":"entry-dictionary","title":"Duplication of pancreatic duct"},{"container-title":"HP:0030994","author":[{"family":"A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030994","type":"entry-dictionary","title":"Pancreas divisum"},{"container-title":"HP:0030995","author":[{"family":"An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030995","type":"entry-dictionary","title":"Peritoneal effusion"},{"container-title":"HP:0030996","author":[{"family":"Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030996","type":"entry-dictionary","title":"Megaduodenum"},{"container-title":"HP:0030997","author":[{"family":"vas deferens atresia"},{"family":"atresia of the vas deferens"},{"family":"Abnormal closure or blockage of the vas deferens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030997","type":"entry-dictionary","title":"Atretic vas deferens"},{"container-title":"HP:0030998","author":[{"family":"csf rhinorrhoea"},{"family":"Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030998","type":"entry-dictionary","title":"Cerebrospinal fluid rhinorrhoea"},{"container-title":"HP:0030999","author":[{"family":"Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0030999","type":"entry-dictionary","title":"Abnormal vestibular saccule morphology"},{"container-title":"HP:0031000","author":[{"family":"Deterioration or loss of the tissues of the saccule of the vestibule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031000","type":"entry-dictionary","title":"Vestibular saccular degeneration"},{"container-title":"HP:0031001","author":[{"family":"A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diamter than a normal nerve fascicle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031001","type":"entry-dictionary","title":"Minifascicle formation"},{"container-title":"HP:0031002","author":[{"family":"Inflammation of a nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031002","type":"entry-dictionary","title":"Neuritis"},{"container-title":"HP:0031003","author":[{"family":"multiple neuritis"},{"family":"Simulataneous inflammation of multiple nerves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031003","type":"entry-dictionary","title":"Polyneuritis"},{"container-title":"HP:0031004","author":[{"family":"Areflexia that is limited to one side of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031004","type":"entry-dictionary","title":"Hemiareflexia"},{"container-title":"HP:0031005","author":[{"family":"Abnormally increased sensitivity to pain."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031005","type":"entry-dictionary","title":"Hyperalgesia"},{"container-title":"HP:0031006","author":[{"family":"A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031006","type":"entry-dictionary","title":"Acroparesthesia"},{"container-title":"HP:0031007","author":[{"family":"jaw dystonia induced by speaking"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031007","type":"entry-dictionary","title":"Orofacial action-specific dystonia induced by speech"},{"container-title":"HP:0031008","author":[{"family":"tongue dystonia"},{"family":"Involuntary protrusions, movements, spams and contortions of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031008","type":"entry-dictionary","title":"Lingual dystonia"},{"container-title":"HP:0031009","author":[{"family":"dactylolysis spontanea"},{"family":"Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031009","type":"entry-dictionary","title":"Ainhum"},{"container-title":"HP:0031010","author":[{"family":"hyperphalangy of third finger"},{"family":"An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031010","type":"entry-dictionary","title":"Hyperphalangy of the 3rd finger"},{"container-title":"HP:0031011","author":[{"family":"sudanophilic lesion"},{"family":"Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031011","type":"entry-dictionary","title":"Fatty streak"},{"container-title":"HP:0031012","author":[{"family":"tcfa"},{"family":"Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring <65 µm typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031012","type":"entry-dictionary","title":"Thin-cap fibroatheroma"},{"container-title":"HP:0031013","author":[{"family":"A reduction of joint mobility resulting from changes involving the articular surfaces."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031013","type":"entry-dictionary","title":"Ankylosis"},{"container-title":"HP:0031014","author":[{"family":"lusorian artery"},{"family":"aberrant right subclavian artery"},{"family":"Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031014","type":"entry-dictionary","title":"Arteria lusoria"},{"container-title":"HP:0031015","author":[{"family":"incomplete septal cirrhosis"},{"family":"idiopathic non-cirrhotic portal hypertension"},{"family":"obliterative portal venopathy"},{"family":"non cirrhotic portal fibrosis"},{"family":"Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031015","type":"entry-dictionary","title":"Intrahepatic portal vein sclerosis"},{"container-title":"HP:0031016","author":[{"family":"zebra stripe sign"},{"family":"Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031016","type":"entry-dictionary","title":"Alternating radiolucent and radiodense metaphyseal lines"},{"container-title":"HP:0031017","author":[{"family":"Multiple defects in the atrial septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031017","type":"entry-dictionary","title":"Swiss cheese atrial septal defect"},{"container-title":"HP:0031018","author":[{"family":"acrosyringeal adenomatosis"},{"family":"eccrine syringofibroadenomatous hyperplasia"},{"family":"Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031018","type":"entry-dictionary","title":"Eccrine syringofibroadenoma"},{"container-title":"HP:0031019","author":[{"family":"Nuclear lobes of neutrophils in the bone marrow are thickend and condensed, and individual lobes are connected by unusually long chromatin filaments."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031019","type":"entry-dictionary","title":"Pyknotic bone marrow neutrophils"},{"container-title":"HP:0031020","author":[{"family":"A larger than normal amount or percentage of hematopoietic cells relative to marrow fat."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031020","type":"entry-dictionary","title":"Bone marrow hypercellularity"},{"container-title":"HP:0031021","author":[{"family":"A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus]."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031021","type":"entry-dictionary","title":"Squamous Papilloma"},{"container-title":"HP:0031022","author":[{"family":"A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus]."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031022","type":"entry-dictionary","title":"Oropharyngeal squamous papilloma"},{"container-title":"HP:0031023","author":[{"family":"Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031023","type":"entry-dictionary","title":"Multiple mucosal neuromas"},{"container-title":"HP:0031024","author":[{"family":"A benign skin adnexal tumor of eccrine differentiation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031024","type":"entry-dictionary","title":"Cylindroma"},{"container-title":"HP:0031025","author":[{"family":"A malignant neoplasm of the stomach that grows submocosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031025","type":"entry-dictionary","title":"Gastric leiomyosarcoma"},{"container-title":"HP:0031026","author":[{"family":"schneckenbecken dysplasia"},{"family":"snail-like pelvis"},{"family":"snail-shaped ilia"},{"family":"The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031026","type":"entry-dictionary","title":"Snail-like ilia"},{"container-title":"HP:0031027","author":[{"family":"A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031027","type":"entry-dictionary","title":"Internal notch of the femoral head"},{"container-title":"HP:0031028","author":[{"family":"plasma lactescence"},{"family":"milk-like serum"},{"family":"Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031028","type":"entry-dictionary","title":"Lactescent serum"},{"container-title":"HP:0031029","author":[{"family":"increased plasma cea"},{"family":"An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031029","type":"entry-dictionary","title":"Elevated carcinoembryonic antigen level"},{"container-title":"HP:0031030","author":[{"family":"increased plasma ca125"},{"family":"An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031030","type":"entry-dictionary","title":"Elevated carcinoma antigen 125 level"},{"container-title":"HP:0031031","author":[{"family":"A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031031","type":"entry-dictionary","title":"Abnormal retinol-binding protein level"},{"container-title":"HP:0031032","author":[{"family":"A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031032","type":"entry-dictionary","title":"Decreased retinol-binding protein level"},{"container-title":"HP:0031033","author":[{"family":"renal acidification defect"},{"family":"The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031033","type":"entry-dictionary","title":"Impaired urinary acidification"},{"container-title":"HP:0031034","author":[{"family":"A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031034","type":"entry-dictionary","title":"Abnormal insulin like growth factor binding protein acid labile subunit level"},{"container-title":"HP:0031035","author":[{"family":"Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031035","type":"entry-dictionary","title":"Chronic infection"},{"container-title":"HP:0031036","author":[{"family":"decreased plasma gh-binding protein"},{"family":"A decreased blood concentration of growth hormone binding protein."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031036","type":"entry-dictionary","title":"Reduced growth-hormone binding protein level"},{"container-title":"HP:0031037","author":[{"family":"reduced plasma insl3 level"},{"family":"Blood concentration of insulin-like factor 3 (ILF3) is below normal limits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031037","type":"entry-dictionary","title":"Reduced insulin-like factor 3 level"},{"container-title":"HP:0031038","author":[{"family":"meiotic maturation arrest of spermatogenesis"},{"family":"Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031038","type":"entry-dictionary","title":"Spermatogenesis maturation arrest"},{"container-title":"HP:0031039","author":[{"family":"A type of maturation arrest in which only spermatogonia or spermatocytes are found."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031039","type":"entry-dictionary","title":"Early spermatogenesis maturation arrest"},{"container-title":"HP:0031040","author":[{"family":"maturation arrest of spermatogenesis at spermatid stage"},{"family":"A type of maturation arrest in which spermatids are detected without spermatozoa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031040","type":"entry-dictionary","title":"Late spermatogenesis maturation arrest"},{"container-title":"HP:0031041","author":[{"family":"superior vena cava obstruction"},{"family":"superior vena cava syndrome"},{"family":"Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031041","type":"entry-dictionary","title":"Obstruction of the superior vena cava"},{"container-title":"HP:0031042","author":[{"family":"raspberry tongue"},{"family":"Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031042","type":"entry-dictionary","title":"Strawberry tongue"},{"container-title":"HP:0031043","author":[{"family":"A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031043","type":"entry-dictionary","title":"Type A4 brachydactyly"},{"container-title":"HP:0031044","author":[{"family":"A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031044","type":"entry-dictionary","title":"Type A5 brachydactyly"},{"container-title":"HP:0031045","author":[{"family":"Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet=."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031045","type":"entry-dictionary","title":"Acral blistering"},{"container-title":"HP:0031046","author":[{"family":"agenesis of the soft palate"},{"family":"A developmental defect characterized by lack of a soft palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031046","type":"entry-dictionary","title":"Absent soft palate"},{"container-title":"HP:0031047","author":[{"family":"monoclonal hypergammaglobulinemia"},{"family":"An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031047","type":"entry-dictionary","title":"Paraproteinemia"},{"container-title":"HP:0031048","author":[{"family":"An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031048","type":"entry-dictionary","title":"Light-chain paraproteinemia"},{"container-title":"HP:0031049","author":[{"family":"An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031049","type":"entry-dictionary","title":"Heavy-chain paraproteinemia"},{"container-title":"HP:0031050","author":[{"family":"An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031050","type":"entry-dictionary","title":"Whole-immunoglobulin paraproteinemia"},{"container-title":"HP:0031051","author":[{"family":"An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031051","type":"entry-dictionary","title":"Tarsal sclerosis"},{"container-title":"HP:0031052","author":[{"family":"Increased blood concentration of vascular endothelial growth factor (VEGF)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031052","type":"entry-dictionary","title":"Elevated vascular endothelial growth factor level"},{"container-title":"HP:0031053","author":[{"family":"Narrowing or constriction of the aorta localized to the region of the transverse aortic arch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031053","type":"entry-dictionary","title":"Coarctation in the transverse aortic arch"},{"container-title":"HP:0031054","author":[{"family":"Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031054","type":"entry-dictionary","title":"Long segment coarctation of the aorta"},{"container-title":"HP:0031055","author":[{"family":"A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031055","type":"entry-dictionary","title":"Abnormal branching pattern of left aortic arch"},{"container-title":"HP:0031056","author":[{"family":"intracranial fusiform aneurysm"},{"family":"A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031056","type":"entry-dictionary","title":"Fusiform cerebral aneurysm"},{"container-title":"HP:0031057","author":[{"family":"cracked skin"},{"family":"A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031057","type":"entry-dictionary","title":"Skin fissure"},{"container-title":"HP:0031058","author":[{"family":"Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031058","type":"entry-dictionary","title":"Impairment of activities of daily living"},{"container-title":"HP:0031059","author":[{"family":"This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031059","type":"entry-dictionary","title":"Impaired ability to bathe oneself"},{"container-title":"HP:0031060","author":[{"family":"This applies to an individual who needs help with dressing or needs to be completely dressed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031060","type":"entry-dictionary","title":"Impaired ability to dress oneself"},{"container-title":"HP:0031061","author":[{"family":"This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031061","type":"entry-dictionary","title":"Impaired toileting ability"},{"container-title":"HP:0031062","author":[{"family":"Applies to an individual who needs help in moving from bed to chair or requires a complete transfer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031062","type":"entry-dictionary","title":"Impaired transferring ability"},{"container-title":"HP:0031063","author":[{"family":"Applies to an individual who needs partial or total help with feeding or requires parenteral feeding."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031063","type":"entry-dictionary","title":"Impaired feeding ability"},{"container-title":"HP:0031064","author":[{"family":"Partial or total incontinence of bowel or bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031064","type":"entry-dictionary","title":"Impaired continence"},{"container-title":"HP:0031065","author":[{"family":"Abnormal ovarian morphology"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031065","type":"entry-dictionary","title":"Abnormal ovarian morphology"},{"container-title":"HP:0031066","author":[{"family":"Any anomaly of ovarian function."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031066","type":"entry-dictionary","title":"Abnormal ovarian physiology"},{"container-title":"HP:0031067","author":[{"family":"empty follicle syndrome"},{"family":"A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031067","type":"entry-dictionary","title":"Empty ovarian follicle"},{"container-title":"HP:0031068","author":[{"family":"Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031068","type":"entry-dictionary","title":"Increased femoral torsion"},{"container-title":"HP:0031069","author":[{"family":"Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031069","type":"entry-dictionary","title":"Abnormal femoral torsion"},{"container-title":"HP:0031070","author":[{"family":"Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031070","type":"entry-dictionary","title":"Decreased femoral torsion"},{"container-title":"HP:0031071","author":[{"family":"Any anomaly of the structure of an organ ofthe endocrine system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031071","type":"entry-dictionary","title":"Abnormal endocrine morphology"},{"container-title":"HP:0031072","author":[{"family":"Any anomaly of the function of the endocrine system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031072","type":"entry-dictionary","title":"Abnormal endocrine physiology"},{"container-title":"HP:0031073","author":[{"family":"An anomalous response to a test that is designed to probe the function of the endocrine system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031073","type":"entry-dictionary","title":"Abnormal response to endocrine stimulation test"},{"container-title":"HP:0031074","author":[{"family":"An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031074","type":"entry-dictionary","title":"Abnormal response to ACTH stimulation test"},{"container-title":"HP:0031075","author":[{"family":"An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measred at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg\/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031075","type":"entry-dictionary","title":"Abnormal response to insulin tolerance test"},{"container-title":"HP:0031076","author":[{"family":"Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031076","type":"entry-dictionary","title":"Impaired cortisol response to insulin stimulation test"},{"container-title":"HP:0031077","author":[{"family":"abnormal response to crh stimulation test"},{"family":"An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031077","type":"entry-dictionary","title":"Abnormal response to corticotropin releasing hormone stimulation test"},{"container-title":"HP:0031078","author":[{"family":"Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031078","type":"entry-dictionary","title":"Impaired cortisol response to corticotropin releasing hormone stimulation test"},{"container-title":"HP:0031079","author":[{"family":"Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031079","type":"entry-dictionary","title":"Impaired growth-hormone response to insulin stimulation test"},{"container-title":"HP:0031080","author":[{"family":"An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031080","type":"entry-dictionary","title":"Abnormal response to glucagon stimulation test"},{"container-title":"HP:0031081","author":[{"family":"Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031081","type":"entry-dictionary","title":"Impaired cortisol response to glucagon stimulation test"},{"container-title":"HP:0031082","author":[{"family":"Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031082","type":"entry-dictionary","title":"Impaired growth-hormone response to glucagon stimulation test"},{"container-title":"HP:0031083","author":[{"family":"abnormal response to hcg stimulation test"},{"family":"An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031083","type":"entry-dictionary","title":"Abnormal response to human chorionic gonadotrophin stimulation test"},{"container-title":"HP:0031084","author":[{"family":"An abnormally high increase in insulin levels following a glucagon stimulation test."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031084","type":"entry-dictionary","title":"Excessive insulin response to glucagon test"},{"container-title":"HP:0031085","author":[{"family":"A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031085","type":"entry-dictionary","title":"Decreased prealbumin level"},{"container-title":"HP:0031086","author":[{"family":"undescended ovary"},{"family":"Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031086","type":"entry-dictionary","title":"Ectopic ovary"},{"container-title":"HP:0031087","author":[{"family":"absent adolescent growth spurt"},{"family":"The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031087","type":"entry-dictionary","title":"Absent pubertal growth spurt"},{"container-title":"HP:0031088","author":[{"family":"Persistent vaginal dryness."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031088","type":"entry-dictionary","title":"Vaginal dryness"},{"container-title":"HP:0031089","author":[{"family":"palate edema"},{"family":"Swelling related to fluid accumulation within the palate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031089","type":"entry-dictionary","title":"Palatal edema"},{"container-title":"HP:0031090","author":[{"family":"sausage fingers"},{"family":"Fingers appear swollen and plump owing to inflammation of the complete finger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031090","type":"entry-dictionary","title":"Finger dactylitis"},{"container-title":"HP:0031091","author":[{"family":"sausage toes"},{"family":"Toes appear swollen and plump owing to inflammation of the complete toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031091","type":"entry-dictionary","title":"Toe dactylitis"},{"container-title":"HP:0031092","author":[{"family":"Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031092","type":"entry-dictionary","title":"Spindle-shaped finger"},{"container-title":"HP:0031093","author":[{"family":"Any anomaly of the structure of the breast."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031093","type":"entry-dictionary","title":"Abnormal breast morphology"},{"container-title":"HP:0031094","author":[{"family":"Any anomaly of the function of the breast."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031094","type":"entry-dictionary","title":"Abnormal breast physiology"},{"container-title":"HP:0031095","author":[{"family":"Any anomaly of the structure of the humerus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031095","type":"entry-dictionary","title":"Abnormal humerus morphology"},{"container-title":"HP:0031096","author":[{"family":"A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031096","type":"entry-dictionary","title":"Delayed vertebral ossification"},{"container-title":"HP:0031097","author":[{"family":"Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031097","type":"entry-dictionary","title":"Abnormal thyroid-stimulating hormone level"},{"container-title":"HP:0031098","author":[{"family":"decreased plasma tsh"},{"family":"Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031098","type":"entry-dictionary","title":"Decreased thyroid-stimulating hormone level"},{"container-title":"HP:0031099","author":[{"family":"Any deviation from the normal concentration of iInhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031099","type":"entry-dictionary","title":"Abnormal circulating inhibin level"},{"container-title":"HP:0031100","author":[{"family":"A reduced concentration of inhibin B in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031100","type":"entry-dictionary","title":"Decreased inhibin B level"},{"container-title":"HP:0031101","author":[{"family":"Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031101","type":"entry-dictionary","title":"Abnormal antimullerian hormone level"},{"container-title":"HP:0031102","author":[{"family":"increased plasma amh"},{"family":"An elevation above the normal range of the antimullerian hormone in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031102","type":"entry-dictionary","title":"Increased antimullerian hormone level"},{"container-title":"HP:0031103","author":[{"family":"decreased plasma amh"},{"family":"A reduction below the normal range of the antimullerian hormone in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031103","type":"entry-dictionary","title":"Decreased antimullerian hormone level"},{"container-title":"HP:0031104","author":[{"family":"The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031104","type":"entry-dictionary","title":"Insulin receptor antibody positivity"},{"container-title":"HP:0031105","author":[{"family":"Any anomaly of the structure of the uterus"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031105","type":"entry-dictionary","title":"Abnormal uterus morphology"},{"container-title":"HP:0031106","author":[{"family":"An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2\/3 uterine corpus and 1\/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031106","type":"entry-dictionary","title":"T-shaped uterus"},{"container-title":"HP:0031107","author":[{"family":"thin fibula"},{"family":"Reduced width of the cross sectional diameter of the fibula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031107","type":"entry-dictionary","title":"Decreased fibular diameter"},{"container-title":"HP:0031108","author":[{"family":"A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031108","type":"entry-dictionary","title":"Triceps weakness"},{"container-title":"HP:0031109","author":[{"family":"lactation incapacity"},{"family":"Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031109","type":"entry-dictionary","title":"Agalactia"},{"container-title":"HP:0031110","author":[{"family":"twin to twin transfusion syndrome"},{"family":"As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031110","type":"entry-dictionary","title":"Twin-to-twin transfusion"},{"container-title":"HP:0031111","author":[{"family":"skin hamartoma"},{"family":"A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031111","type":"entry-dictionary","title":"Cutaneous hamartoma"},{"container-title":"HP:0031117","author":[{"family":"A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031117","type":"entry-dictionary","title":"Purely bicuspid aortic valve"},{"container-title":"HP:0031118","author":[{"family":"A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031118","type":"entry-dictionary","title":"Single raphe bicuspid aortic valve"},{"container-title":"HP:0031119","author":[{"family":"A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031119","type":"entry-dictionary","title":"Bicuspid aortic valve with right-left cusp fusion"},{"container-title":"HP:0031120","author":[{"family":"A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031120","type":"entry-dictionary","title":"Bicuspid aortic valve with right-noncoronary cusp fusion"},{"container-title":"HP:0031121","author":[{"family":"A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031121","type":"entry-dictionary","title":"Bicuspid aortic valve with left-noncoronary cusp fusion"},{"container-title":"HP:0031122","author":[{"family":"A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031122","type":"entry-dictionary","title":"Two-raphe bicuspid aortic valve"},{"container-title":"HP:0031123","author":[{"family":"Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031123","type":"entry-dictionary","title":"Recurrent gastroenteritis"},{"container-title":"HP:0031124","author":[{"family":"Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031124","type":"entry-dictionary","title":"Decreased platelet thromboxane A2 receptor"},{"container-title":"HP:0031125","author":[{"family":"Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031125","type":"entry-dictionary","title":"Decreased platelet alpha-2A-adrenergic receptor"},{"container-title":"HP:0031126","author":[{"family":"Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031126","type":"entry-dictionary","title":"Impaired clot retraction"},{"container-title":"HP:0031127","author":[{"family":"Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031127","type":"entry-dictionary","title":"Impaired convulxin-induced platelet aggregation"},{"container-title":"HP:0031128","author":[{"family":"Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031128","type":"entry-dictionary","title":"Impaired collagen-related peptide-induced platelet aggregation"},{"container-title":"HP:0031129","author":[{"family":"Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031129","type":"entry-dictionary","title":"Impaired phorbol myristate acetate-induced platelet aggregation"},{"container-title":"HP:0031130","author":[{"family":"Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031130","type":"entry-dictionary","title":"Impaired calcium ionophore-induced platelet aggregation"},{"container-title":"HP:0031131","author":[{"family":"An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031131","type":"entry-dictionary","title":"Abnormal plalelet phosphatidylserine exposure"},{"container-title":"HP:0031132","author":[{"family":"Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031132","type":"entry-dictionary","title":"Impaired annexin V binding to platelet phosphatidylserine"},{"container-title":"HP:0031133","author":[{"family":"Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031133","type":"entry-dictionary","title":"Increased annexin V binding to platelet phosphatidylserine"},{"container-title":"HP:0031134","author":[{"family":"A developmental anomaly of the heart characterizedby the presence of three atria because the left atrium is divided by an abnormal septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031134","type":"entry-dictionary","title":"Cor triatrium sinister"},{"container-title":"HP:0031135","author":[{"family":"Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031135","type":"entry-dictionary","title":"Triggered by physical trauma"},{"container-title":"HP:0031136","author":[{"family":"A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031136","type":"entry-dictionary","title":"Decreased acrosin in sperm head"},{"container-title":"HP:0031137","author":[{"family":"Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031137","type":"entry-dictionary","title":"Storage in hepatocytes"},{"container-title":"HP:0031138","author":[{"family":"A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031138","type":"entry-dictionary","title":"Abnormal B-type natriuretic peptide level"},{"container-title":"HP:0031139","author":[{"family":"A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031139","type":"entry-dictionary","title":"Frog-leg posture"},{"container-title":"HP:0031140","author":[{"family":"An abnormal appearance of the liver or any of its components on sonography (ultrasound)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031140","type":"entry-dictionary","title":"Abnormal liver sonography"},{"container-title":"HP:0031141","author":[{"family":"Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031141","type":"entry-dictionary","title":"Increased hepatic echogenicity"},{"container-title":"HP:0031142","author":[{"family":"Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031142","type":"entry-dictionary","title":"Abnormal hepatic echogenicity"},{"container-title":"HP:0031143","author":[{"family":"Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031143","type":"entry-dictionary","title":"Decreased hepatic echogenicity"},{"container-title":"HP:0031144","author":[{"family":"The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearancde of the liver parenchyma in liver sonography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031144","type":"entry-dictionary","title":"Coarsened hepatic echotexture"},{"container-title":"HP:0031145","author":[{"family":"An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031145","type":"entry-dictionary","title":"Starry sky appearance on hepatic sonography"},{"container-title":"HP:0031146","author":[{"family":"An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031146","type":"entry-dictionary","title":"Impaired oral bolus formation"},{"container-title":"HP:0031150","author":[{"family":"vma"},{"family":"Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031150","type":"entry-dictionary","title":"Vitreomacular adhesion"},{"container-title":"HP:0031151","author":[{"family":"vmt"},{"family":"Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031151","type":"entry-dictionary","title":"Vitreomacular traction"},{"container-title":"HP:0031152","author":[{"family":"ftmh"},{"family":"Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031152","type":"entry-dictionary","title":"Full-thickness macular hole"},{"container-title":"HP:0031153","author":[{"family":"membranous anomaly"},{"family":"membranous vitreous phenotype"},{"family":"Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031153","type":"entry-dictionary","title":"Membranous vitreous appearance"},{"container-title":"HP:0031154","author":[{"family":"Vitreous humor of the eye displaying beaded bundles of irregular diameters."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031154","type":"entry-dictionary","title":"Beaded vitreous appearance"},{"container-title":"HP:0031155","author":[{"family":"increased arden ratio of eog"},{"family":"An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031155","type":"entry-dictionary","title":"Increased Arden ratio of electrooculogram"},{"container-title":"HP:0031156","author":[{"family":"Decreased platelet cell membrane concentration of glycoprotein Ib."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031156","type":"entry-dictionary","title":"Decreased platelet glycoprotein Ib"},{"container-title":"HP:0031157","author":[{"family":"caroticocavernous fistula"},{"family":"Ab abnormal connection between a carotid artery and the cavernous sinus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031157","type":"entry-dictionary","title":"Carotid cavernous fistula"},{"container-title":"HP:0031158","author":[{"family":"An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031158","type":"entry-dictionary","title":"Widened atrophic scar"},{"container-title":"HP:0031159","author":[{"family":"A reduction in the thickness of Descemet's membrane."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031159","type":"entry-dictionary","title":"Thinning of Descemet membrane"},{"container-title":"HP:0031160","author":[{"family":"Impaired egress of mature neutrophils from bone marrow causing neutropenia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031160","type":"entry-dictionary","title":"Myelokathexis"},{"container-title":"HP:0031161","author":[{"family":"An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031161","type":"entry-dictionary","title":"Reduced brain glutamate level by MRS"},{"container-title":"HP:0031162","author":[{"family":"Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031162","type":"entry-dictionary","title":"Impaired oropharyngeal swallow response"},{"container-title":"HP:0031163","author":[{"family":"low femur bone density"},{"family":"Reduced bone mineral density of the femur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031163","type":"entry-dictionary","title":"Low femoral bone density"},{"container-title":"HP:0031164","author":[{"family":"growth resumption lines"},{"family":"harris lines"},{"family":"Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031164","type":"entry-dictionary","title":"Growth arrest lines"},{"container-title":"HP:0031165","author":[{"family":"multifocal onset seizures"},{"family":"Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031165","type":"entry-dictionary","title":"Multifocal seizures"},{"container-title":"HP:0031166","author":[{"family":"myokymia orbicularis"},{"family":"orbicularis myokymia"},{"family":"Involuntary, fine, continuous, undulating contractions of the eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031166","type":"entry-dictionary","title":"Eyelid myokymia"},{"container-title":"HP:0031167","author":[{"family":"Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031167","type":"entry-dictionary","title":"Triggered by ingestion of potassium-rich food"},{"container-title":"HP:0031169","author":[{"family":"A pregnancy that extends to 42 weeks of gestation or beyond."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031169","type":"entry-dictionary","title":"Postterm pregnancy"},{"container-title":"HP:0031170","author":[{"family":"Fetal masculinization of female external genitalia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031170","type":"entry-dictionary","title":"Female fetal virilization"},{"container-title":"HP:0031171","author":[{"family":"spurring of femur"},{"family":"A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031171","type":"entry-dictionary","title":"Femoral spur"},{"container-title":"HP:0031172","author":[{"family":"A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031172","type":"entry-dictionary","title":"Sectoral retinitis pigmentosa"},{"container-title":"HP:0031173","author":[{"family":"spurring of tibiae"},{"family":"A bony projection (spur, osteophyte) originating from the tibia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031173","type":"entry-dictionary","title":"Tibial spur"},{"container-title":"HP:0031174","author":[{"family":"An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031174","type":"entry-dictionary","title":"Double-layered patella"},{"container-title":"HP:0031175","author":[{"family":"A developmental defect characterized by agenesis of one or more vetebral bodies of the cervical spine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031175","type":"entry-dictionary","title":"Absent cervical vertebra"},{"container-title":"HP:0031176","author":[{"family":"A developmental defect characterized by agenesis of one or more vetebral bodies of the thoracic spine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031176","type":"entry-dictionary","title":"Absent thoracic vertebra"},{"container-title":"HP:0031177","author":[{"family":"Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031177","type":"entry-dictionary","title":"Finger flexor weakness"},{"container-title":"HP:0031178","author":[{"family":"Head is bent in the posterior direction in a permanent fashion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031178","type":"entry-dictionary","title":"Fixed head retroflexion"},{"container-title":"HP:0031179","author":[{"family":"meningism"},{"family":"Resistnace of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031179","type":"entry-dictionary","title":"Nuchal rigidity"},{"container-title":"HP:0031180","author":[{"family":"erythema chronicum migrans"},{"family":"An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031180","type":"entry-dictionary","title":"Erythema migrans"},{"container-title":"HP:0031181","author":[{"family":"Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031181","type":"entry-dictionary","title":"Necrolytic migratory erythema"},{"container-title":"HP:0031185","author":[{"family":"An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031185","type":"entry-dictionary","title":"Increased NT-proBNP level"},{"container-title":"HP:0031186","author":[{"family":"An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031186","type":"entry-dictionary","title":"Abnormal circulating deoxycorticosterone level"},{"container-title":"HP:0031187","author":[{"family":"An abnormality of the concentration of pregnenolone in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031187","type":"entry-dictionary","title":"Abnormality of circulating pregnenolone level"},{"container-title":"HP:0031188","author":[{"family":"genital oedema"},{"family":"A buildup of fluid that causes swelling in the soft tissues of the genital area."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031188","type":"entry-dictionary","title":"Genital edema"},{"container-title":"HP:0031189","author":[{"family":"A condition in which the affected individual cannot extend the wrist, which hangs flaccidly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031189","type":"entry-dictionary","title":"Wrist drop"},{"container-title":"HP:0031190","author":[{"family":"superficial perivascular inflammatory infiltrate"},{"family":"Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031190","type":"entry-dictionary","title":"Superficial dermal perivascular inflammatory infiltrate"},{"container-title":"HP:0031191","author":[{"family":"deep perivascular inflammatory infiltrate"},{"family":"Numerous lymphocytes surrounding blood vessels in the deep part of the dermis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031191","type":"entry-dictionary","title":"Deep dermal perivascular inflammatory infiltrate"},{"container-title":"HP:0031192","author":[{"family":"Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031192","type":"entry-dictionary","title":"Abnormal morphology of left ventricular trabeculae"},{"container-title":"HP:0031193","author":[{"family":"Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031193","type":"entry-dictionary","title":"Abnormal morphology of right ventricular trabeculae"},{"container-title":"HP:0031194","author":[{"family":"An increased denisty (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031194","type":"entry-dictionary","title":"Increased density of left ventricular trabeculae"},{"container-title":"HP:0031195","author":[{"family":"An increased number and denisty of the trabeculae in the apex (tip) of the left ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031195","type":"entry-dictionary","title":"Apical hypertrabeculation of the left ventricle"},{"container-title":"HP:0031196","author":[{"family":"Reduced thickness of the outer, dense layer of the myocardium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031196","type":"entry-dictionary","title":"Thin myocardium compact layer"},{"container-title":"HP:0031197","author":[{"family":"A type of urinary cast composed of cells incorporated in a protein matrx. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031197","type":"entry-dictionary","title":"Cellular urinary casts"},{"container-title":"HP:0031198","author":[{"family":"A type of cellular urinary cast componsed of renal tubular epithelial cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031198","type":"entry-dictionary","title":"Renal tubular epithelial cell casts"},{"container-title":"HP:0031199","author":[{"family":"A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031199","type":"entry-dictionary","title":"Acellular urinary casts"},{"container-title":"HP:0031200","author":[{"family":"A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031200","type":"entry-dictionary","title":"Hyaline casts"},{"container-title":"HP:0031201","author":[{"family":"A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031201","type":"entry-dictionary","title":"Granular casts"},{"container-title":"HP:0031202","author":[{"family":"A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031202","type":"entry-dictionary","title":"Waxy casts"},{"container-title":"HP:0031203","author":[{"family":"A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031203","type":"entry-dictionary","title":"Fatty casts"},{"container-title":"HP:0031204","author":[{"family":"A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031204","type":"entry-dictionary","title":"Bacterial cell casts"},{"container-title":"HP:0031205","author":[{"family":"reduced leukocyte acid lipase activity"},{"family":"Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031205","type":"entry-dictionary","title":"Reduced lysosomal acid lipase activity"},{"container-title":"HP:0031206","author":[{"family":"Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031206","type":"entry-dictionary","title":"Striatal T2 hyperintensity"},{"container-title":"HP:0031207","author":[{"family":"hemangioma of the liver"},{"family":"liver hemangioma"},{"family":"A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031207","type":"entry-dictionary","title":"Hepatic hemangioma"},{"container-title":"HP:0031208","author":[{"family":"An increased concentration of circulating alpha polypeptide of glycoprotein hormones (Entrez Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031208","type":"entry-dictionary","title":"Increased pituitary glycoprotein alpha subunit level"},{"container-title":"HP:0031209","author":[{"family":"Reduction in the activity of lipoprotein lipase in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031209","type":"entry-dictionary","title":"Decreased lipoprotein lipase activity"},{"container-title":"HP:0031210","author":[{"family":"A deviation from the normal concentration of hyaluronic acid in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031210","type":"entry-dictionary","title":"Abnormal circulating hyaluronic acid concentration"},{"container-title":"HP:0031211","author":[{"family":"elevated cholesteryl ester level"},{"family":"An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031211","type":"entry-dictionary","title":"Elevated cholesterol ester level"},{"container-title":"HP:0031212","author":[{"family":"Abnormal circulating progesterone level"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031212","type":"entry-dictionary","title":"Abnormal circulating progesterone level"},{"container-title":"HP:0031213","author":[{"family":"elevated circulating 17-ohp"},{"family":"An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031213","type":"entry-dictionary","title":"Elevated circulating 17-hydroxyprogesterone"},{"container-title":"HP:0031214","author":[{"family":"Decreased circulating dehydroepiandrosterone level"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031214","type":"entry-dictionary","title":"Decreased circulating dehydroepiandrosterone level"},{"container-title":"HP:0031215","author":[{"family":"A reduced concentration of dehydroepiandrosterone-sulfate in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031215","type":"entry-dictionary","title":"Decreased circulating dehydroepiandrosterone-sulfate level"},{"container-title":"HP:0031216","author":[{"family":"An elevated concentration of progesterone in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031216","type":"entry-dictionary","title":"Increased circulating progesterone"},{"container-title":"HP:0031217","author":[{"family":"Sudden feelings of warmth that are generally most pronounced over the face, neck and chest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031217","type":"entry-dictionary","title":"Hot flashes"},{"container-title":"HP:0031218","author":[{"family":"syndrome of inappropriate antidiuretic hormone secretion"},{"family":"siadh"},{"family":"A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031218","type":"entry-dictionary","title":"Inappropriate antidiuretic hormone secretion"},{"container-title":"HP:0031219","author":[{"family":"A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours afteradministration of the radioactive marker."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031219","type":"entry-dictionary","title":"Reduced radioactive iodine uptake"},{"container-title":"HP:0031220","author":[{"family":"An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours afteradministration of the radioactive marker."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031220","type":"entry-dictionary","title":"Increased radioactive iodine uptake"},{"container-title":"HP:0031221","author":[{"family":"Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours afteradministration of the radioactive marker."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031221","type":"entry-dictionary","title":"Abnormal radioactive iodine uptake test result"},{"container-title":"HP:0031222","author":[{"family":"An elevated concentration of thyroxine-binding globulin (TBG) in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031222","type":"entry-dictionary","title":"Increased circulating thyroxine-binding globulin level"},{"container-title":"HP:0031223","author":[{"family":"Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031223","type":"entry-dictionary","title":"Focal pancreatic islet hyperplasia"},{"container-title":"HP:0031224","author":[{"family":"Hyperplasia of the islets of Langerhans with a generalized distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031224","type":"entry-dictionary","title":"Diffuse pancreatic islet hyperplasia"},{"container-title":"HP:0031225","author":[{"family":"intrapulmonary shunting"},{"family":"Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031225","type":"entry-dictionary","title":"Intrapulmonary shunt"},{"container-title":"HP:0031226","author":[{"family":"An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031226","type":"entry-dictionary","title":"Perinephric fluid collection"},{"container-title":"HP:0031227","author":[{"family":"A teratoma arising in the nasopharyngeal region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031227","type":"entry-dictionary","title":"Nasopharyngeal teratoma"},{"container-title":"HP:0031228","author":[{"family":"An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031228","type":"entry-dictionary","title":"Abnormal incisura morphology"},{"container-title":"HP:0031229","author":[{"family":"The length of the incisura from the upper to lower border is greater than that observed in the average population."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031229","type":"entry-dictionary","title":"Increased incisura length"},{"container-title":"HP:0031230","author":[{"family":"The length of the incisura from the upper to lower border is less than that observed in the average population."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031230","type":"entry-dictionary","title":"Decreased incisura length"},{"container-title":"HP:0031231","author":[{"family":"Width of the incisura from the anterior to posterior border less than that observed in the average population."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031231","type":"entry-dictionary","title":"Narrow incisura width"},{"container-title":"HP:0031232","author":[{"family":"Breadth of the incisura from the anterior to posterior border greater than that observed in the average population."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031232","type":"entry-dictionary","title":"Increased incisura width"},{"container-title":"HP:0031233","author":[{"family":"squaring of the inferior scapulae"},{"family":"squaring of the scapula"},{"family":"A morphological abnor,mality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031233","type":"entry-dictionary","title":"Horizontal inferior border of scapula"},{"container-title":"HP:0031234","author":[{"family":"A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031234","type":"entry-dictionary","title":"Neutrophilic infiltration of the skin"},{"container-title":"HP:0031235","author":[{"family":"Collection of neutrophils in the epidermis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031235","type":"entry-dictionary","title":"Predominantly epidermal neutrophilic infiltrate"},{"container-title":"HP:0031236","author":[{"family":"Collection of neutrophils in the epidermis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031236","type":"entry-dictionary","title":"Predominantly dermal neutrophilic infiltrate"},{"container-title":"HP:0031237","author":[{"family":"An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031237","type":"entry-dictionary","title":"Internally nucleated skeletal muscle fibers"},{"container-title":"HP:0031238","author":[{"family":"A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031238","type":"entry-dictionary","title":"Necklace skeletal muscle fibers"},{"container-title":"HP:0031239","author":[{"family":"A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031239","type":"entry-dictionary","title":"Extrafoveal choroidal neovascularization"},{"container-title":"HP:0031240","author":[{"family":"A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031240","type":"entry-dictionary","title":"Juxtafoveal choroidal neovascularization"},{"container-title":"HP:0031241","author":[{"family":"A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031241","type":"entry-dictionary","title":"Subfoveal choroidal neovascularization"},{"container-title":"HP:0031242","author":[{"family":"hypochylomicronemia"},{"family":"Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031242","type":"entry-dictionary","title":"Decreased circulating chylomicron levels"},{"container-title":"HP:0031243","author":[{"family":"A reduction in the amount of very-low-density lipoprotein cholesterol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031243","type":"entry-dictionary","title":"Decreased circulating very-low-density lipoprotein levels"},{"container-title":"HP:0031244","author":[{"family":"swelling of the lip"},{"family":"Enlargement of the lip typically due to fluid buildup or inflammation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031244","type":"entry-dictionary","title":"Swollen lip"},{"container-title":"HP:0031245","author":[{"family":"wet cough"},{"family":"A cough that produces phlegm or mucus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031245","type":"entry-dictionary","title":"Productive cough"},{"container-title":"HP:0031246","author":[{"family":"dry coughing"},{"family":"A cough that does not produce phlegm or mucus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031246","type":"entry-dictionary","title":"Nonproductive cough"},{"container-title":"HP:0031247","author":[{"family":"A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031247","type":"entry-dictionary","title":"Whooping cough"},{"container-title":"HP:0031248","author":[{"family":"itchy palm"},{"family":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031248","type":"entry-dictionary","title":"Palmar pruritus"},{"container-title":"HP:0031249","author":[{"family":"metallic taste in mouth"},{"family":"dysgeusia"},{"family":"A distortion of the sense of taste, often characterized by the sensation of a metallic taste."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031249","type":"entry-dictionary","title":"Parageusia"},{"container-title":"HP:0031250","author":[{"family":"A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031250","type":"entry-dictionary","title":"Lip fissure"},{"container-title":"HP:0031251","author":[{"family":"Any anomaly of a subclavian artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031251","type":"entry-dictionary","title":"Abnormal subclavian artery morphology"},{"container-title":"HP:0031252","author":[{"family":"Abnormally increased caliber of the left subclavian artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031252","type":"entry-dictionary","title":"Dilated left subclavian artery"},{"container-title":"HP:0031253","author":[{"family":"Origin of the left subclavian artery from an anomaloous anatomical location."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031253","type":"entry-dictionary","title":"Anomalous origin of left subclavian artery"},{"container-title":"HP:0031254","author":[{"family":"An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031254","type":"entry-dictionary","title":"Thalamic arteriovenous malformation"},{"container-title":"HP:0031255","author":[{"family":"An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031255","type":"entry-dictionary","title":"Hypothalamic arteriovenous malformation"},{"container-title":"HP:0031256","author":[{"family":"An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031256","type":"entry-dictionary","title":"Optic nerve arteriovenous malformation"},{"container-title":"HP:0031257","author":[{"family":"An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031257","type":"entry-dictionary","title":"Arteriovenous malformation of the maxilla"},{"container-title":"HP:0031258","author":[{"family":"A state of sudden and severe confusion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031258","type":"entry-dictionary","title":"Delirium"},{"container-title":"HP:0031259","author":[{"family":"inflammed ovary"},{"family":"An inflammation of the ovary or ovaries."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031259","type":"entry-dictionary","title":"Oophoritis"},{"container-title":"HP:0031260","author":[{"family":"A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle diected laterally (See Figure 2 of PMID:18616733)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031260","type":"entry-dictionary","title":"Triangular tibia"},{"container-title":"HP:0031261","author":[{"family":"An abnormal growth that projects from the mucous membrane of the urinary bladder."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031261","type":"entry-dictionary","title":"Bladder polyp"},{"container-title":"HP:0031263","author":[{"family":"Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031263","type":"entry-dictionary","title":"Abnormal renal corpuscle morphology"},{"container-title":"HP:0031264","author":[{"family":"abnormal renal glomerular capsule morphology"},{"family":"A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031264","type":"entry-dictionary","title":"Abnormal morphology of Bowman capsule"},{"container-title":"HP:0031265","author":[{"family":"Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031265","type":"entry-dictionary","title":"Abnormal podocyte morphology"},{"container-title":"HP:0031266","author":[{"family":"An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031266","type":"entry-dictionary","title":"Podocyte foot process effacement"},{"container-title":"HP:0031267","author":[{"family":"Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031267","type":"entry-dictionary","title":"Abnormal CD69 upregulation upon TCR activation"},{"container-title":"HP:0031268","author":[{"family":"Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031268","type":"entry-dictionary","title":"Decreased CD69 upregulation upon TCR activation"},{"container-title":"HP:0031269","author":[{"family":"Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031269","type":"entry-dictionary","title":"Abnormal CD25 upregulation upon TCR activation"},{"container-title":"HP:0031270","author":[{"family":"poor cd25 upregulation upon tcr activation"},{"family":"reduced il2ra upregulation upon tcr activation"},{"family":"Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031270","type":"entry-dictionary","title":"Decreased CD25 upregulation upon TCR activation"},{"container-title":"HP:0031271","author":[{"family":"The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery,cannot be detected on physical examination."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031271","type":"entry-dictionary","title":"Absent ankle pulse"},{"container-title":"HP:0031272","author":[{"family":"Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031272","type":"entry-dictionary","title":"Pulmonary arterial atherosclerosis"},{"container-title":"HP:0031273","author":[{"family":"The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031273","type":"entry-dictionary","title":"Shock"},{"container-title":"HP:0031274","author":[{"family":"A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031274","type":"entry-dictionary","title":"Hypovolemic shock"},{"container-title":"HP:0031275","author":[{"family":"A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031275","type":"entry-dictionary","title":"Distributive shock"},{"container-title":"HP:0031276","author":[{"family":"A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031276","type":"entry-dictionary","title":"Obstructive shock"},{"container-title":"HP:0031278","author":[{"family":"Any structural anomaly of the thoracic duct."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031278","type":"entry-dictionary","title":"Abnormal thoracic duct morphology"},{"container-title":"HP:0031279","author":[{"family":"abnormal response to gnrh stimulation test"},{"family":"An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031279","type":"entry-dictionary","title":"Abnormal response to gonadotropin-releasing hormone stimulation test"},{"container-title":"HP:0031280","author":[{"family":"An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormine stimulation test."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031280","type":"entry-dictionary","title":"Increased LH response to gonadotropin-releasing hormone stimulation test"},{"container-title":"HP:0031281","author":[{"family":"Inflammation of a salivary gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031281","type":"entry-dictionary","title":"Sialadenitis"},{"container-title":"HP:0031282","author":[{"family":"A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031282","type":"entry-dictionary","title":"Malalignment of the great toenail"},{"container-title":"HP:0031283","author":[{"family":"The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031283","type":"entry-dictionary","title":"Tufted hairs"},{"container-title":"HP:0031284","author":[{"family":"Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031284","type":"entry-dictionary","title":"Flushing"},{"container-title":"HP:0031285","author":[{"family":"Any structural anomaly in the areas surrounding the hair follicles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031285","type":"entry-dictionary","title":"Abnormal perifollicular morphology"},{"container-title":"HP:0031286","author":[{"family":"Redness surrounding the hair follicles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031286","type":"entry-dictionary","title":"Perifollicular erythema"},{"container-title":"HP:0031287","author":[{"family":"seborrheic verruca"},{"family":"basal cell papilloma"},{"family":"senile wart"},{"family":"A raised growths on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031287","type":"entry-dictionary","title":"Seborrheic keratosis"},{"container-title":"HP:0031288","author":[{"family":"The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031288","type":"entry-dictionary","title":"Cobblestone-like hyperkeratosis"},{"container-title":"HP:0031289","author":[{"family":"A papule with white color."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031289","type":"entry-dictionary","title":"White papule"},{"container-title":"HP:0031290","author":[{"family":"A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031290","type":"entry-dictionary","title":"Tuberous xanthoma"},{"container-title":"HP:0031291","author":[{"family":"Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031291","type":"entry-dictionary","title":"Ichthyosis follicularis"},{"container-title":"HP:0031292","author":[{"family":"skin abscess"},{"family":"A circumscribed area of pus or necrotic debris in the skin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031292","type":"entry-dictionary","title":"Cutaneous abscess"},{"container-title":"HP:0031293","author":[{"family":"Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031293","type":"entry-dictionary","title":"Digital pitting scar"},{"container-title":"HP:0031294","author":[{"family":"Underdeveloped, small right heart atrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031294","type":"entry-dictionary","title":"Hypoplastic right atrium"},{"container-title":"HP:0031295","author":[{"family":"enlarged heart left atrium"},{"family":"Increase in size of the left atrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031295","type":"entry-dictionary","title":"Left atrial enlargement"},{"container-title":"HP:0031296","author":[{"family":"An abnormal increase in the thickness of the atrial septum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031296","type":"entry-dictionary","title":"Atrial septal hypertrophy"},{"container-title":"HP:0031297","author":[{"family":"Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031297","type":"entry-dictionary","title":"Unroofed coronary sinus"},{"container-title":"HP:0031298","author":[{"family":"enlarged coronary sinus"},{"family":"coronary sinus dilatation"},{"family":"Abnormal increase in size of the coronary sinus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031298","type":"entry-dictionary","title":"Coronary sinus enlargement"},{"container-title":"HP:0031299","author":[{"family":"An abnormal increase in magnitude of the pressure in the left atrium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031299","type":"entry-dictionary","title":"Elevated left atrial pressure"},{"container-title":"HP:0031300","author":[{"family":"A deviation from the normal concentration of properdin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031300","type":"entry-dictionary","title":"Abnormal circulating properdin level"},{"container-title":"HP:0031301","author":[{"family":"peripheral artery calcification"},{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031301","type":"entry-dictionary","title":"Peripheral arterial calcification"},{"container-title":"HP:0031302","author":[{"family":"lower extremity peripheral artery calcification"},{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031302","type":"entry-dictionary","title":"Lower extremity peripheral arterial calcification"},{"container-title":"HP:0031303","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031303","type":"entry-dictionary","title":"Femoral arterial calcification"},{"container-title":"HP:0031304","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031304","type":"entry-dictionary","title":"Iliac arterial calcification"},{"container-title":"HP:0031305","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031305","type":"entry-dictionary","title":"Tibial arterial calcification"},{"container-title":"HP:0031306","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031306","type":"entry-dictionary","title":"Intracranial arterial calcification"},{"container-title":"HP:0031307","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031307","type":"entry-dictionary","title":"Internal carotid artery calcification"},{"container-title":"HP:0031308","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031308","type":"entry-dictionary","title":"Vertebral artery calcification"},{"container-title":"HP:0031309","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031309","type":"entry-dictionary","title":"Cerebral artery calcification"},{"container-title":"HP:0031310","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031310","type":"entry-dictionary","title":"Basilar artery calcification"},{"container-title":"HP:0031311","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031311","type":"entry-dictionary","title":"Middle cerebral artery calcification"},{"container-title":"HP:0031313","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031313","type":"entry-dictionary","title":"Abdominal aortic calcification"},{"container-title":"HP:0031314","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031314","type":"entry-dictionary","title":"Carotid artery calcification"},{"container-title":"HP:0031315","author":[{"family":"An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031315","type":"entry-dictionary","title":"External carotid artery calcification"},{"container-title":"HP:0031316","author":[{"family":"A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031316","type":"entry-dictionary","title":"Abnormal ventricular myocardium morphology"},{"container-title":"HP:0031317","author":[{"family":"fatty infiltration of cardiac ventricle"},{"family":"intramyocardial fat infiltration"},{"family":"Presence of an increased amount of fat tissue withina cardiac ventricle with corresponding reduction of muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031317","type":"entry-dictionary","title":"Fatty replacement of ventricular myocardial tissue"},{"container-title":"HP:0031318","author":[{"family":"myocardial fiber disarray"},{"family":"A nonparallel arrangement of cardiac myocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031318","type":"entry-dictionary","title":"Myofiber disarray"},{"container-title":"HP:0031319","author":[{"family":"myocyte cellular hypertrophy"},{"family":"An abnormal increase in the volume of cardiac myocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031319","type":"entry-dictionary","title":"Cardiomyocyte hypertrophy"},{"container-title":"HP:0031320","author":[{"family":"An abnormal increase in the number of mitochondria per cardiac myocyte."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031320","type":"entry-dictionary","title":"Cardiomyocyte mitochondrial proliferation"},{"container-title":"HP:0031321","author":[{"family":"An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031321","type":"entry-dictionary","title":"Myocardial immune cell infiltration"},{"container-title":"HP:0031322","author":[{"family":"An increase in the number of lymphocytes in myocardial tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031322","type":"entry-dictionary","title":"Myocardial lymphocytic infiltration"},{"container-title":"HP:0031323","author":[{"family":"An increase in the number of eosinophils in myocardial tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031323","type":"entry-dictionary","title":"Myocardial eosinophilic infiltration"},{"container-title":"HP:0031324","author":[{"family":"The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031324","type":"entry-dictionary","title":"Myocardial multinucleated giant cells"},{"container-title":"HP:0031325","author":[{"family":"The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031325","type":"entry-dictionary","title":"Myocardial granulomatous infiltrates"},{"container-title":"HP:0031326","author":[{"family":"A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031326","type":"entry-dictionary","title":"Monoclonal light chain cardiac amyloidosis"},{"container-title":"HP:0031327","author":[{"family":"ttr cardiac amyloidosis"},{"family":"A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is indentified by immunohistochemical staining."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031327","type":"entry-dictionary","title":"Transthyretin cardiac amyloidosis"},{"container-title":"HP:0031328","author":[{"family":"A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031328","type":"entry-dictionary","title":"Perivascular cardiac fibrosis"},{"container-title":"HP:0031329","author":[{"family":"A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031329","type":"entry-dictionary","title":"Interstitial cardiac fibrosis"},{"container-title":"HP:0031330","author":[{"family":"An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031330","type":"entry-dictionary","title":"Perivascular myocardial immune cell infiltration"},{"container-title":"HP:0031331","author":[{"family":"abnormal cardiac muscle cell morphology"},{"family":"Any structural anomaly of cardiomyocytes, whichare terminally differentiated muscle cells inthe heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031331","type":"entry-dictionary","title":"Abnormal cardiomyocyte morphology"},{"container-title":"HP:0031332","author":[{"family":"Deterioration of cardiomyocyte charyacterized by abnormal features sich as loss of myotilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031332","type":"entry-dictionary","title":"Cardiomyocyte degeneration"},{"container-title":"HP:0031333","author":[{"family":"myocardial sarcomere disarray"},{"family":"A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and action that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031333","type":"entry-dictionary","title":"Myocardial sarcomeric disarray"},{"container-title":"HP:0031334","author":[{"family":"Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031334","type":"entry-dictionary","title":"Cardiomyocyte inclusion bodies"},{"container-title":"HP:0031335","author":[{"family":"An anomaly of the structure of mitochondria within cardiomyocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031335","type":"entry-dictionary","title":"Abnormal cardiomyocyte mitochondrial morphology"},{"container-title":"HP:0031336","author":[{"family":"Abnormal localization of mitochondria within the nuclei of cardiomyocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031336","type":"entry-dictionary","title":"Intranuclear cardiomyocyte mitochondria"},{"container-title":"HP:0031337","author":[{"family":"Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031337","type":"entry-dictionary","title":"Abnormal cardiomyocyte connexin43 staining"},{"container-title":"HP:0031338","author":[{"family":"Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031338","type":"entry-dictionary","title":"Abnormal cardiomyocyte plakoglobin staining"},{"container-title":"HP:0031339","author":[{"family":"Anomalous staining of dystrophin in cardiomyocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031339","type":"entry-dictionary","title":"Abnormal cadiomyocyte dystrophin staining"},{"container-title":"HP:0031340","author":[{"family":"A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031340","type":"entry-dictionary","title":"Abnormal lysosomal morphology"},{"container-title":"HP:0031341","author":[{"family":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031341","type":"entry-dictionary","title":"Gastric arteriovenous malformation"},{"container-title":"HP:0031342","author":[{"family":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031342","type":"entry-dictionary","title":"Duodenal arteriovenous malformation"},{"container-title":"HP:0031343","author":[{"family":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031343","type":"entry-dictionary","title":"Jejunal arteriovenous malformation"},{"container-title":"HP:0031344","author":[{"family":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031344","type":"entry-dictionary","title":"Pelvic arteriovenous malformation"},{"container-title":"HP:0031345","author":[{"family":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031345","type":"entry-dictionary","title":"Colonic arteriovenous malformation"},{"container-title":"HP:0031346","author":[{"family":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031346","type":"entry-dictionary","title":"Rectal arteriovenous malformation"},{"container-title":"HP:0031347","author":[{"family":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031347","type":"entry-dictionary","title":"Uterine arteriovenous malformation"},{"container-title":"HP:0031348","author":[{"family":"d-tga"},{"family":"d-loop transposition of the great arteries"},{"family":"A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031348","type":"entry-dictionary","title":"Dextrotransposition of the great arteries"},{"container-title":"HP:0031349","author":[{"family":"l-tga"},{"family":"A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031349","type":"entry-dictionary","title":"Levotransposition of the great arteries"},{"container-title":"HP:0031350","author":[{"family":"A malignant soft tissue neoplasm that arises from the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031350","type":"entry-dictionary","title":"Cardiac sarcoma"},{"container-title":"HP:0031351","author":[{"family":"calcified amorphous tumour of the heart"},{"family":"A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031351","type":"entry-dictionary","title":"Calcified amorphous tumor of the heart"},{"container-title":"HP:0031352","author":[{"family":"An unpleasant sensation of tightness or pressure in the chest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031352","type":"entry-dictionary","title":"Chest tightness"},{"container-title":"HP:0031353","author":[{"family":"fluid behind eardrum"},{"family":"Otitis media characterized by thick or sticky fluid behind the tympanic membrane."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031353","type":"entry-dictionary","title":"Otitis media with effusion"},{"container-title":"HP:0031354","author":[{"family":"Difficulty initiating sleep, that is, increased sleep onset latency."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031354","type":"entry-dictionary","title":"Sleep onset Insomnia"},{"container-title":"HP:0031355","author":[{"family":"Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031355","type":"entry-dictionary","title":"Maintenance insomnia"},{"container-title":"HP:0031356","author":[{"family":"late insomnia"},{"family":"A type of insomnia characterized by waking up (too) early in the morning."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031356","type":"entry-dictionary","title":"Terminal insomnia"},{"container-title":"HP:0031357","author":[{"family":"A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031357","type":"entry-dictionary","title":"Glomeruloid hemangioma"},{"container-title":"HP:0031358","author":[{"family":"Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031358","type":"entry-dictionary","title":"Vegetative state"},{"container-title":"HP:0031359","author":[{"family":"A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031359","type":"entry-dictionary","title":"Cutaneous sclerotic plaque"},{"container-title":"HP:0031360","author":[{"family":"A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031360","type":"entry-dictionary","title":"Yellow skin plaque"},{"container-title":"HP:0031361","author":[{"family":"Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmicv inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031361","type":"entry-dictionary","title":"Zebra bodies"},{"container-title":"HP:0031362","author":[{"family":"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes in a sex-specific manner (i.e. only in males or only in females)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031362","type":"entry-dictionary","title":"Sex-limited autosomal recessive inheritance"},{"container-title":"HP:0031363","author":[{"family":"A type of purpuira in which the lesions are raised (and can therefore be appreciated upon palpation)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031363","type":"entry-dictionary","title":"Palpable purpura"},{"container-title":"HP:0031364","author":[{"family":"ecchymoses"},{"family":"A purpuric lesion that is larger than 1 cm in diameter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031364","type":"entry-dictionary","title":"Ecchymosis"},{"container-title":"HP:0031365","author":[{"family":"flat purpura"},{"family":"Purpura that is flat (non-palpable, not raised)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031365","type":"entry-dictionary","title":"Macular purpura"},{"container-title":"HP:0031366","author":[{"family":"A neoplasm that affects the hard palate, soft palate, or uvula."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031366","type":"entry-dictionary","title":"Palate neoplasm"},{"container-title":"HP:0031367","author":[{"family":"striated metaphysis"},{"family":"Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031367","type":"entry-dictionary","title":"Metaphyseal striations"},{"container-title":"HP:0031368","author":[{"family":"A hole (perforation) in the wall of the intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031368","type":"entry-dictionary","title":"Intestinal perforation"},{"container-title":"HP:0031369","author":[{"family":"perforation of the colon"},{"family":"A hole (perforation) in the wall of the colon."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031369","type":"entry-dictionary","title":"Colon perforation"},{"container-title":"HP:0031370","author":[{"family":"A hole (perforation) in the wall of the small intestine."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031370","type":"entry-dictionary","title":"Small intestinal perforation"},{"container-title":"HP:0031371","author":[{"family":"A hole (perforation) in the wall of the rectum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031371","type":"entry-dictionary","title":"Rectal perforation"},{"container-title":"HP:0031372","author":[{"family":"Increased muscle weakness upon exposure to cold temperatures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031372","type":"entry-dictionary","title":"Cold paresis"},{"container-title":"HP:0031373","author":[{"family":"tongue stiffness"},{"family":"Increased rigidity and reduced mobility of the tongue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031373","type":"entry-dictionary","title":"Stiff tongue"},{"container-title":"HP:0031374","author":[{"family":"Reduced strength of the muscles that lift or otherwise move the foot at the ankle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031374","type":"entry-dictionary","title":"Ankle weakness"},{"container-title":"HP:0031375","author":[{"family":"Applies to a sign or symptom that is difficult to treat or cure."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031375","type":"entry-dictionary","title":"Refractory"},{"container-title":"HP:0031377","author":[{"family":"Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031377","type":"entry-dictionary","title":"Abnormal cell proliferation"},{"container-title":"HP:0031378","author":[{"family":"Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031378","type":"entry-dictionary","title":"Abnormal lymphocyte proliferation"},{"container-title":"HP:0031379","author":[{"family":"Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031379","type":"entry-dictionary","title":"Abnormal T cell proliferation"},{"container-title":"HP:0031380","author":[{"family":"Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031380","type":"entry-dictionary","title":"Abnormal B cell proliferation"},{"container-title":"HP:0031381","author":[{"family":"reduced lymphocyte proliferation to mitogen"},{"family":"A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031381","type":"entry-dictionary","title":"Decreased lymphocyte proliferation in response to mitogen"},{"container-title":"HP:0031382","author":[{"family":"A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031382","type":"entry-dictionary","title":"Decreased lymphocyte proliferation in response to anti-CD3"},{"container-title":"HP:0031383","author":[{"family":"Abnormal amount of a protein that is normally present on the cell surface of lymphocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031383","type":"entry-dictionary","title":"Abnormal lymphocyte surface marker expression"},{"container-title":"HP:0031384","author":[{"family":"A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031384","type":"entry-dictionary","title":"Reduced T cell CD40 expression"},{"container-title":"HP:0031385","author":[{"family":"The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031385","type":"entry-dictionary","title":"Megakaryocyte nucleus hypolobulation"},{"container-title":"HP:0031386","author":[{"family":"The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031386","type":"entry-dictionary","title":"Increased micromegakaryocyte count"},{"container-title":"HP:0031387","author":[{"family":"The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031387","type":"entry-dictionary","title":"Increased multinucleated megakaryocyte count"},{"container-title":"HP:0031388","author":[{"family":"The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031388","type":"entry-dictionary","title":"Megakaryocyte nucleus hyperlobulation"},{"container-title":"HP:0031389","author":[{"family":"A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031389","type":"entry-dictionary","title":"Abnormal MHC II surface expression"},{"container-title":"HP:0031390","author":[{"family":"A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031390","type":"entry-dictionary","title":"Reduced MHC II surface expression"},{"container-title":"HP:0031391","author":[{"family":"An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031391","type":"entry-dictionary","title":"Elevated MHC II surface expression"},{"container-title":"HP:0031392","author":[{"family":"abnormal proportion of cd4+ t cells"},{"family":"Any abnormality in the proportion of CD4 T cells relative to the total number of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031392","type":"entry-dictionary","title":"Abnormal proportion of CD4 T cells"},{"container-title":"HP:0031393","author":[{"family":"abnormal proportion of cd8+ t cells"},{"family":"Any abnormality in the proportion of CD8 T cells relative to the total number of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031393","type":"entry-dictionary","title":"Abnormal proportion of CD8 T cells"},{"container-title":"HP:0031394","author":[{"family":"Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031394","type":"entry-dictionary","title":"Abnormal CD4:CD8 ratio"},{"container-title":"HP:0031396","author":[{"family":"abnormal naive t cell proportion"},{"family":"Any abnormality in the proportion of naive T cells relative to the total number of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031396","type":"entry-dictionary","title":"Abnormal proportion of naive T cells"},{"container-title":"HP:0031397","author":[{"family":"An abnormally decreased proportion of naive T cells relative to the total number of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031397","type":"entry-dictionary","title":"Reduced proportion of naive T cells"},{"container-title":"HP:0031398","author":[{"family":"An abnormally increased proportion of naive T cells relative to the total number of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031398","type":"entry-dictionary","title":"Elevated proportion of naive T cells"},{"container-title":"HP:0031399","author":[{"family":"abnormal cd4-negative, cd8-negative, alpha-beta regulatory t cell distribution"},{"family":"abnormal double-negative alpha-beta regulatory t cell distribution"},{"family":"abnormal double negative treg distribution"},{"family":"abnormal dn treg distribution"},{"family":"An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031399","type":"entry-dictionary","title":"Abnormal proportion of double-negative alpha-beta regulatory T cell"},{"container-title":"HP:0031401","author":[{"family":"An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031401","type":"entry-dictionary","title":"Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells"},{"container-title":"HP:0031402","author":[{"family":"impaired activated t cell proliferation"},{"family":"antigen-specific t cell proliferation defect"},{"family":"impaired ag-specific t cell proliferation"},{"family":"impaired cellular adaptive immune response"},{"family":"Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031402","type":"entry-dictionary","title":"Reduced antigen-specific T cell proliferation"},{"container-title":"HP:0031403","author":[{"family":"pathogen-specific cd8 cytoxicity defect"},{"family":"Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031403","type":"entry-dictionary","title":"Impaired pathogen-specific CD8 cytoxicity"},{"container-title":"HP:0031404","author":[{"family":"impaired adaptive immune response"},{"family":"An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031404","type":"entry-dictionary","title":"Impaired antigen-specific response"},{"container-title":"HP:0031405","author":[{"family":"A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273]."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031405","type":"entry-dictionary","title":"Poroma"},{"container-title":"HP:0031406","author":[{"family":"Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031406","type":"entry-dictionary","title":"Abnormal cytokine signaling"},{"container-title":"HP:0031407","author":[{"family":"cytokine signaling defect"},{"family":"A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031407","type":"entry-dictionary","title":"Impaired cytokine signaling"},{"container-title":"HP:0031408","author":[{"family":"An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031408","type":"entry-dictionary","title":"Increased proportion of CD25+ mast cells"},{"container-title":"HP:0031409","author":[{"family":"Any anomaly of lymphocyte function."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031409","type":"entry-dictionary","title":"Abnormal lymphocyte physiology"},{"container-title":"HP:0031410","author":[{"family":"abnormal distribution of cd56 bright\/dim nk cells"},{"family":"An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56 the adhesion molecule mediating homotypic adhesion, and is used as a functional marker for NK cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031410","type":"entry-dictionary","title":"Abnormal distribution of CD56 bright\/dim natural killer cells"},{"container-title":"HP:0031411","author":[{"family":"Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031411","type":"entry-dictionary","title":"Abnormal chromosome morphology"},{"container-title":"HP:0031412","author":[{"family":"Abnormal telomere morphology"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031412","type":"entry-dictionary","title":"Abnormal telomere morphology"},{"container-title":"HP:0031413","author":[{"family":"An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031413","type":"entry-dictionary","title":"Short telomere length"},{"container-title":"HP:0031414","author":[{"family":"high serum 25-hydroxycholecalciferol"},{"family":"high serum calcidiol"},{"family":"An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031414","type":"entry-dictionary","title":"High serum calcifediol"},{"container-title":"HP:0031415","author":[{"family":"high serum 1,25-dihydroxyvitamin d3"},{"family":"high serum 1,25-dihydroxycholecalciferol"},{"family":"An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031415","type":"entry-dictionary","title":"High serum calcitriol"},{"container-title":"HP:0031416","author":[{"family":"Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031416","type":"entry-dictionary","title":"Abnormal nasal mucus secretion"},{"container-title":"HP:0031417","author":[{"family":"runny nose"},{"family":"nasal discharge"},{"family":"Increased discharge of mucus from the nose."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031417","type":"entry-dictionary","title":"Rhinorrhea"},{"container-title":"HP:0031418","author":[{"family":"increased bmi"},{"family":"Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031418","type":"entry-dictionary","title":"Increased body mass index"},{"container-title":"HP:0031419","author":[{"family":"reduced androgen-binding protein level"},{"family":"A decreased concentration of sex-hormone binding protein in the circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031419","type":"entry-dictionary","title":"Reduced sex -hormone binding protein level"},{"container-title":"HP:0031420","author":[{"family":"laser pointer-induced maculopathy"},{"family":"light induced retinopathy"},{"family":"photic retinopathy"},{"family":"solar retinopathy"},{"family":"solar retinitis"},{"family":"laser pointer-induced retinopathy"},{"family":"A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031420","type":"entry-dictionary","title":"Small yellow foveal lesion with surrounding grey zone"},{"container-title":"HP:0031421","author":[{"family":"Reduced size of the superior frontal portion of the cerebral cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031421","type":"entry-dictionary","title":"Small superior frontal cortex"},{"container-title":"HP:0031422","author":[{"family":"Any structural anomaly of the cortex of the cerebellum."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031422","type":"entry-dictionary","title":"Abnormal morphology of the cerebellar cortex"},{"container-title":"HP:0031423","author":[{"family":"Reduced size of the cerebellar cortex."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031423","type":"entry-dictionary","title":"Small cerebellar cortex"},{"container-title":"HP:0031424","author":[{"family":"abnormal circulating beta-ctx level"},{"family":"A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031424","type":"entry-dictionary","title":"Abnormal circulating beta-C-terminal telopeptide level"},{"container-title":"HP:0031425","author":[{"family":"A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031425","type":"entry-dictionary","title":"Increased circulating beta-C-terminal telopeptide level"},{"container-title":"HP:0031426","author":[{"family":"A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031426","type":"entry-dictionary","title":"Decreased circulating beta-C-terminal telopeptide level"},{"container-title":"HP:0031427","author":[{"family":"A deviation from the normal concentration of osteocalcin in the blood circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031427","type":"entry-dictionary","title":"Abnormal circulating osteocalcin level"},{"container-title":"HP:0031428","author":[{"family":"An elevated level of osteocalcin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031428","type":"entry-dictionary","title":"Increased circulating osteocalcin level"},{"container-title":"HP:0031429","author":[{"family":"A reduced level of osteocalcin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031429","type":"entry-dictionary","title":"Decreased circulating osteocalcin level"},{"container-title":"HP:0031430","author":[{"family":"The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031430","type":"entry-dictionary","title":"Oligoclonal T cell expansion"},{"container-title":"HP:0031431","author":[{"family":"Repetitive use of words, phrases, intonation, or sounds of speech, often of the speechof others."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031431","type":"entry-dictionary","title":"Persistent repetition of words"},{"container-title":"HP:0031432","author":[{"family":"Repeated and inappropriate mechanical repetition of actions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031432","type":"entry-dictionary","title":"Persistent repetition of actions"},{"container-title":"HP:0031433","author":[{"family":"unaware of others' emotions"},{"family":"A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031433","type":"entry-dictionary","title":"Alexithymia"},{"container-title":"HP:0031434","author":[{"family":"An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031434","type":"entry-dictionary","title":"Abnormal speech prosody"},{"container-title":"HP:0031435","author":[{"family":"A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031435","type":"entry-dictionary","title":"Monotonic speech"},{"container-title":"HP:0031436","author":[{"family":"A speech pattern characterized by abnormally elevated variability of the pitch of the voice."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031436","type":"entry-dictionary","title":"Increased pitch variability of speech"},{"container-title":"HP:0031437","author":[{"family":"exposure during pregnancy"},{"family":"Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031437","type":"entry-dictionary","title":"Pregnancy exposure"},{"container-title":"HP:0031438","author":[{"family":"A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031438","type":"entry-dictionary","title":"Abnormal sex hormone-binding globulin level"},{"container-title":"HP:0031439","author":[{"family":"A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031439","type":"entry-dictionary","title":"Abnormal angiostatin level"},{"container-title":"HP:0031441","author":[{"family":"Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031441","type":"entry-dictionary","title":"Abnormal tricuspid valve annulus morphology"},{"container-title":"HP:0031442","author":[{"family":"Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031442","type":"entry-dictionary","title":"Abnormal tricuspid chordae tendinae morphology"},{"container-title":"HP:0031443","author":[{"family":"Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031443","type":"entry-dictionary","title":"Abnormal tricuspid valve leaflet morphology"},{"container-title":"HP:0031444","author":[{"family":"An increase in the diameter of the ring (annulus) of the tricuspid valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031444","type":"entry-dictionary","title":"Dilatation of the tricuspid annulus"},{"container-title":"HP:0031445","author":[{"family":"Oral mucosa nodule"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031445","type":"entry-dictionary","title":"Oral mucosa nodule"},{"container-title":"HP:0031446","author":[{"family":"Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031446","type":"entry-dictionary","title":"Erosion of oral mucosa"},{"container-title":"HP:0031447","author":[{"family":"Multiple pigmented macules located on the skin of the penis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031447","type":"entry-dictionary","title":"Penile freckling"},{"container-title":"HP:0031448","author":[{"family":"Multiple vesicles distributed in mutiple distinct groups consisting of multiple adjacent vesicles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031448","type":"entry-dictionary","title":"Herpetiform vesicles"},{"container-title":"HP:0031449","author":[{"family":"Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031449","type":"entry-dictionary","title":"Perineal hemangioma"},{"container-title":"HP:0031450","author":[{"family":"A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031450","type":"entry-dictionary","title":"Polycyclic"},{"container-title":"HP:0031451","author":[{"family":"An abnormal increase in the amount of subcutaneous fat in the legs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031451","type":"entry-dictionary","title":"Lower extremity subcutanous fat hypertrophy"},{"container-title":"HP:0031452","author":[{"family":"Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple). shiny, isolated, flat-topped papules and plaques."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031452","type":"entry-dictionary","title":"Lichenoid skin lesion"},{"container-title":"HP:0031453","author":[{"family":"Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031453","type":"entry-dictionary","title":"Oral lichenoid lesion"},{"container-title":"HP:0031454","author":[{"family":"A cystic lesions that forms a benign tumor of an apocrine sweat gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031454","type":"entry-dictionary","title":"Apocrine hidrocystoma"},{"container-title":"HP:0031455","author":[{"family":"A gangioleneuroma originating from sympathetic ganglion cells in the abdomen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031455","type":"entry-dictionary","title":"Presacral ganglioneuroma"},{"container-title":"HP:0031456","author":[{"family":"A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031456","type":"entry-dictionary","title":"Ectopic pregnancy"},{"container-title":"HP:0031457","author":[{"family":"Any lesion observed on an imaging study of the lung that is associated with increased density (usually showing as increased whiteness in the image)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031457","type":"entry-dictionary","title":"Pulmonary opacity"},{"container-title":"HP:0031458","author":[{"family":"inflammation of the adenoid tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031458","type":"entry-dictionary","title":"Adenoiditis"},{"container-title":"HP:0031459","author":[{"family":"A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031459","type":"entry-dictionary","title":"Soft tissue neoplasm"},{"container-title":"HP:0031460","author":[{"family":"A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882]."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031460","type":"entry-dictionary","title":"Benign muscle neoplasm"},{"container-title":"HP:0031461","author":[{"family":"A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031461","type":"entry-dictionary","title":"Intramuscular Myxoma"},{"container-title":"HP:0031462","author":[{"family":"Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031462","type":"entry-dictionary","title":"Musculotendinous retraction"},{"container-title":"HP:0031463","author":[{"family":"A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031463","type":"entry-dictionary","title":"Esophageal squamous papilloma"},{"container-title":"HP:0031464","author":[{"family":"The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031464","type":"entry-dictionary","title":"Genital blistering"},{"container-title":"HP:0031465","author":[{"family":"A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031465","type":"entry-dictionary","title":"Abnormal vasa vasorum morphology"},{"container-title":"HP:0031466","author":[{"family":"A maladaptive personality trait characterized by moderate or greater impairment in personality (self \/interpersonal) functioning."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031466","type":"entry-dictionary","title":"Impairment in personality functioning"},{"container-title":"HP:0031467","author":[{"family":"A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031467","type":"entry-dictionary","title":"Negative affectivity"},{"container-title":"HP:0031468","author":[{"family":"Fears of rejection by and\/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031468","type":"entry-dictionary","title":"Separation insecurity"},{"container-title":"HP:0031469","author":[{"family":"Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031469","type":"entry-dictionary","title":"Low self esteem"},{"container-title":"HP:0031472","author":[{"family":"Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031472","type":"entry-dictionary","title":"Risk taking"},{"container-title":"HP:0031473","author":[{"family":"Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031473","type":"entry-dictionary","title":"Hostility"},{"container-title":"HP:0031474","author":[{"family":"A benign cartilaginous tumors of the lung."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031474","type":"entry-dictionary","title":"Pulmonary chondroma"},{"container-title":"HP:0031475","author":[{"family":"A cognitive or behavioral change that lasts for at least 30 minutes, with evidence of seizures on electroencephalogram."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031475","type":"entry-dictionary","title":"Nonconvulsive status epilepticus"},{"container-title":"HP:0031476","author":[{"family":"Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031476","type":"entry-dictionary","title":"Abnormal buccal mucosa cell morphology"},{"container-title":"HP:0031478","author":[{"family":"Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031478","type":"entry-dictionary","title":"Abnormal mitral valve annulus morphology"},{"container-title":"HP:0031479","author":[{"family":"An increase in the diameter of the ring (annulus) of the mitral valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031479","type":"entry-dictionary","title":"Dilatation of the mitral annulus"},{"container-title":"HP:0031480","author":[{"family":"Any structural anomaly of the leaflets (also known as cusps) of the mitral valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031480","type":"entry-dictionary","title":"Abnormal mitral valve leaflet morphology"},{"container-title":"HP:0031481","author":[{"family":"Any functional anomaly of the mitral valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031481","type":"entry-dictionary","title":"Abnormal mitral valve physiology"},{"container-title":"HP:0031482","author":[{"family":"A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031482","type":"entry-dictionary","title":"Abnormal regional left ventricular contraction"},{"container-title":"HP:0031483","author":[{"family":"Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031483","type":"entry-dictionary","title":"Reduced contraction of the left ventricular apex"},{"container-title":"HP:0031484","author":[{"family":"A form of hemolytic anemia that can be triggered by cold temperatures."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031484","type":"entry-dictionary","title":"Cold-induced hemolysis"},{"container-title":"HP:0031485","author":[{"family":"periosteal reaction"},{"family":"The formation of new bone along the cortex and underneath the periosteum of a bone."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031485","type":"entry-dictionary","title":"Subperiosteal bone formation"},{"container-title":"HP:0031486","author":[{"family":"An anomaly of blood vessels located in the lip."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031486","type":"entry-dictionary","title":"Vascular malformation of the lip"},{"container-title":"HP:0031487","author":[{"family":"A vascular malformation located in the lip that is characterized bynectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031487","type":"entry-dictionary","title":"Capillary malformation of the lip"},{"container-title":"HP:0031488","author":[{"family":"A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031488","type":"entry-dictionary","title":"Arteriovenous malformation of the lip"},{"container-title":"HP:0031489","author":[{"family":"A vascular malformation located in the lip that is related to abnormal vascular morphogenesis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031489","type":"entry-dictionary","title":"Venous malformation of the lip"},{"container-title":"HP:0031490","author":[{"family":"A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031490","type":"entry-dictionary","title":"Hemangioma of the lip"},{"container-title":"HP:0031491","author":[{"family":"csws"},{"family":"Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031491","type":"entry-dictionary","title":"Continuous spike and waves during slow sleep"},{"container-title":"HP:0031492","author":[{"family":"A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709]."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031492","type":"entry-dictionary","title":"Epithelial neoplasm"},{"container-title":"HP:0031493","author":[{"family":"A tumor that arises from a gland cell."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031493","type":"entry-dictionary","title":"Glandular cell neoplasm"},{"container-title":"HP:0031494","author":[{"family":"mucinous neoplasm of the ovary"},{"family":"Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031494","type":"entry-dictionary","title":"Ovarian mucinous tumor"},{"container-title":"HP:0031495","author":[{"family":"Mucinous neoplasm"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031495","type":"entry-dictionary","title":"Mucinous neoplasm"},{"container-title":"HP:0031496","author":[{"family":"Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031496","type":"entry-dictionary","title":"Mucinous cystic neoplasm of the pancreas"},{"container-title":"HP:0031497","author":[{"family":"A subtype of colorectal carcinoma with mucin lakes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031497","type":"entry-dictionary","title":"Mucinous colorectal carcinoma"},{"container-title":"HP:0031498","author":[{"family":"A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031498","type":"entry-dictionary","title":"Mucinous gastric carcinoma"},{"container-title":"HP:0031499","author":[{"family":"An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031499","type":"entry-dictionary","title":"Appendiceal mucinous neoplasm"},{"container-title":"HP:0031500","author":[{"family":"An abnormal enlargement or swelling in the abdomen."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031500","type":"entry-dictionary","title":"Abdominal mass"},{"container-title":"HP:0031501","author":[{"family":"An abnormal enlargement or swelling in the pelvic region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031501","type":"entry-dictionary","title":"Pelvic mass"},{"container-title":"HP:0031502","author":[{"family":"A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422]."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031502","type":"entry-dictionary","title":"Trophoblastic tumor"},{"container-title":"HP:0031503","author":[{"family":"Waking up at night gasping for breath."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031503","type":"entry-dictionary","title":"Night gasping"},{"container-title":"HP:0031504","author":[{"family":"frothy urine"},{"family":"Urine has an increased amount of frothy fine bubbles."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031504","type":"entry-dictionary","title":"Foamy urine"},{"container-title":"HP:0031505","author":[{"family":"A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031505","type":"entry-dictionary","title":"Abnormal circulating thyroxine level"},{"container-title":"HP:0031506","author":[{"family":"An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031506","type":"entry-dictionary","title":"Increased circulating thyroxine level"},{"container-title":"HP:0031507","author":[{"family":"reduced t4 plasma level"},{"family":"A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031507","type":"entry-dictionary","title":"Decreased circulating thyroxine level"},{"container-title":"HP:0031508","author":[{"family":"Any deviation from the normal range of the hormones produced by the thyroid gland."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031508","type":"entry-dictionary","title":"Abnormal thyroid hormone level"},{"container-title":"HP:0031509","author":[{"family":"abnormally dry skin in the area of the nipple of the breast."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031509","type":"entry-dictionary","title":"Dry nipple"},{"container-title":"HP:0031510","author":[{"family":"A transverse linear fissure (crease) in the lobule of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031510","type":"entry-dictionary","title":"Linear earlobe crease"},{"container-title":"HP:0031511","author":[{"family":"Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031511","type":"entry-dictionary","title":"Diagonal earlobe crease"},{"container-title":"HP:0031512","author":[{"family":"Abnormal cutaneous collagen fibril morphology"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031512","type":"entry-dictionary","title":"Abnormal cutaneous collagen fibril morphology"},{"container-title":"HP:0031513","author":[{"family":"Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031513","type":"entry-dictionary","title":"Luse bodies"},{"container-title":"HP:0031514","author":[{"family":"An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031514","type":"entry-dictionary","title":"Increased proportion of exhausted T cells"},{"container-title":"HP:0031515","author":[{"family":"Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031515","type":"entry-dictionary","title":"Abnormal meiosis"},{"container-title":"HP:0031516","author":[{"family":"Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031516","type":"entry-dictionary","title":"Oocyte arrest at metaphase I"},{"container-title":"HP:0031517","author":[{"family":"A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031517","type":"entry-dictionary","title":"Verruciform xanthoma"},{"container-title":"HP:0031518","author":[{"family":"Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031518","type":"entry-dictionary","title":"Absent posterior alpha rhythm"},{"container-title":"HP:0031519","author":[{"family":"An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electorn microscopy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031519","type":"entry-dictionary","title":"Cauliflower deformity of dermal collagen fibrils"},{"container-title":"HP:0031520","author":[{"family":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031520","type":"entry-dictionary","title":"Groin pain"},{"container-title":"HP:0031521","author":[{"family":"clear cell adenocarcinoma of the vagina"},{"family":"A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031521","type":"entry-dictionary","title":"Vaginal clear cell adenocarcinoma"},{"container-title":"HP:0031522","author":[{"family":"clear cell carcinoma of cervix"},{"family":"A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031522","type":"entry-dictionary","title":"Cervical clear cell adenocarcinoma"},{"container-title":"HP:0031523","author":[{"family":"parotid oncocytoma"},{"family":"A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031523","type":"entry-dictionary","title":"Salivary gland oncocytoma"},{"container-title":"HP:0031524","author":[{"family":"A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031524","type":"entry-dictionary","title":"Ampulla of Vater carcinoma"},{"container-title":"HP:0031525","author":[{"family":"Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031525","type":"entry-dictionary","title":"Keratoacanthoma"},{"container-title":"HP:0031526","author":[{"family":"sub-retinal fluid"},{"family":"Edema\/fluid accumulating between the retinal pigment epithelium and Bruch's membrane."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031526","type":"entry-dictionary","title":"Subretinal fluid"},{"container-title":"HP:0031527","author":[{"family":"intra-retinal fluid"},{"family":"Edema\/fluid accumulating within the retinal layers."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031527","type":"entry-dictionary","title":"Intraretinal fluid"},{"container-title":"HP:0031528","author":[{"family":"Deposits accumulating between the outer retina and the retinal pigment epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031528","type":"entry-dictionary","title":"Subretinal deposits"},{"container-title":"HP:0031529","author":[{"family":"Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031529","type":"entry-dictionary","title":"Focal subretinal deposits"},{"container-title":"HP:0031530","author":[{"family":"Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031530","type":"entry-dictionary","title":"Multifocal subretinal deposits"},{"container-title":"HP:0031531","author":[{"family":"Deposits accumulating between the retinal pigment epithelium and Bruch's membrane."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031531","type":"entry-dictionary","title":"Sub-RPE deposits"},{"container-title":"HP:0031532","author":[{"family":"Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031532","type":"entry-dictionary","title":"Focal sub-RPE deposits"},{"container-title":"HP:0031533","author":[{"family":"Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031533","type":"entry-dictionary","title":"Multifocal sub-RPE deposits"},{"container-title":"HP:0031534","author":[{"family":"An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031534","type":"entry-dictionary","title":"Passive dorsiflexion of the 5th finger more than 90 degrees"},{"container-title":"HP:0031535","author":[{"family":"Increased frequency of thetat wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031535","type":"entry-dictionary","title":"Increased theta frequency activity in EEG"},{"container-title":"HP:0031536","author":[{"family":"Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031536","type":"entry-dictionary","title":"Separate origin of the left anterior descending and left circumflex artery"},{"container-title":"HP:0031537","author":[{"family":"An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031537","type":"entry-dictionary","title":"Anomalous origin of the left circumflex artery from the right coronary artery"},{"container-title":"HP:0031538","author":[{"family":"Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031538","type":"entry-dictionary","title":"Abnormal dermoepidermal junction morphology"},{"container-title":"HP:0031539","author":[{"family":"Presence of IgA antibodies in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031539","type":"entry-dictionary","title":"Linear IgA deposits along the epidermal basement membrane zone"},{"container-title":"HP:0031540","author":[{"family":"Presence of IgG antibodies in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031540","type":"entry-dictionary","title":"Linear IgG deposits along the epidermal basement membrane zone"},{"container-title":"HP:0031541","author":[{"family":"Presence of complement C3 in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031541","type":"entry-dictionary","title":"Linear C3 deposits along the epidermal basement membrane zone"},{"container-title":"HP:0031542","author":[{"family":"myelin-like whorls in vacuolated fibres"},{"family":"Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031542","type":"entry-dictionary","title":"Myelin-like whorls in vacuolated fibers"},{"container-title":"HP:0031544","author":[{"family":"An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031544","type":"entry-dictionary","title":"Elevated propionylcarnitine level"},{"container-title":"HP:0031545","author":[{"family":"Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha\/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031545","type":"entry-dictionary","title":"Abnormally low T cell receptor excision circle level"},{"container-title":"HP:0031546","author":[{"family":"heart conduction disorder"},{"family":"abnormality of cardiac conduction system"},{"family":"Any anomaly of the progression of electrical impulses through the heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031546","type":"entry-dictionary","title":"Cardiac conduction abnormality"},{"container-title":"HP:0031547","author":[{"family":"Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031547","type":"entry-dictionary","title":"Abnormal QT interval"},{"container-title":"HP:0031548","author":[{"family":"basal cell hamartoma with follicular differentiation"},{"family":"A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031548","type":"entry-dictionary","title":"Follicular infundibulum tumor"},{"container-title":"HP:0031549","author":[{"family":"spiegler-fendt sarcoid"},{"family":"skin pseudolymphoma"},{"family":"Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphonas,1 referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031549","type":"entry-dictionary","title":"Lymphocytoma cutis"},{"container-title":"HP:0031550","author":[{"family":"Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031550","type":"entry-dictionary","title":"Abnormal flow cytometry test rest"},{"container-title":"HP:0031551","author":[{"family":"Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031551","type":"entry-dictionary","title":"Reduced cell surface marker level"},{"container-title":"HP:0031552","author":[{"family":"Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031552","type":"entry-dictionary","title":"Reduced fibroblast surface marker level"},{"container-title":"HP:0031553","author":[{"family":"Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031553","type":"entry-dictionary","title":"Reduced granulocyte surface marker level"},{"container-title":"HP:0031554","author":[{"family":"Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031554","type":"entry-dictionary","title":"Reduced granulocyte CD55 level"},{"container-title":"HP:0031555","author":[{"family":"Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031555","type":"entry-dictionary","title":"Reduced granulocyte CD59 level"},{"container-title":"HP:0031556","author":[{"family":"Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031556","type":"entry-dictionary","title":"Reduced granulocyte CD16 level"},{"container-title":"HP:0031557","author":[{"family":"Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031557","type":"entry-dictionary","title":"Reduced fibroblast CD55 level"},{"container-title":"HP:0031558","author":[{"family":"Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031558","type":"entry-dictionary","title":"Reduced fibroblast CD59 level"},{"container-title":"HP:0031559","author":[{"family":"Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031559","type":"entry-dictionary","title":"Reduced fibroblast CD16 level"},{"container-title":"HP:0031560","author":[{"family":"An abnormal communication between coronary artery and a cardiac chamber."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031560","type":"entry-dictionary","title":"Coronary cameral fistula"},{"container-title":"HP:0031561","author":[{"family":"An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031561","type":"entry-dictionary","title":"Coronary cameral fistula to right ventricle"},{"container-title":"HP:0031562","author":[{"family":"A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031562","type":"entry-dictionary","title":"Balanced double aortic arch"},{"container-title":"HP:0031563","author":[{"family":"An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031563","type":"entry-dictionary","title":"Coronary arteriovenous fistula"},{"container-title":"HP:0031564","author":[{"family":"An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031564","type":"entry-dictionary","title":"Bronchial isomerism"},{"container-title":"HP:0031565","author":[{"family":"An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031565","type":"entry-dictionary","title":"Abdominal situs ambiguus"},{"container-title":"HP:0031566","author":[{"family":"Any structural anomaly of the pulmonary valve leaflets."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031566","type":"entry-dictionary","title":"Abnormal pulmonary valve cusp morphology"},{"container-title":"HP:0031567","author":[{"family":"Any structural anomaly of the aortic valve leaflets."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031567","type":"entry-dictionary","title":"Abnormal aortic valve cusp morphology"},{"container-title":"HP:0031568","author":[{"family":"An abnormally increased thickness of a leaflet of the aortic valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031568","type":"entry-dictionary","title":"Thickened aortic valve cusp"},{"container-title":"HP:0031569","author":[{"family":"absent aortic valve"},{"family":"A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031569","type":"entry-dictionary","title":"Absent aortic valve cusps"},{"container-title":"HP:0031570","author":[{"family":"A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031570","type":"entry-dictionary","title":"Tessier number 0 facial cleft"},{"container-title":"HP:0031571","author":[{"family":"A type of facial cleftlocated near to but not directly on the midline of the face."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031571","type":"entry-dictionary","title":"Paramedian facial cleft"},{"container-title":"HP:0031572","author":[{"family":"As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031572","type":"entry-dictionary","title":"Tessier number 1 facial cleft"},{"container-title":"HP:0031573","author":[{"family":"As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031573","type":"entry-dictionary","title":"Tessier number 2 facial cleft"},{"container-title":"HP:0031574","author":[{"family":"A facial cleft characterized by involvment of the orbit."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031574","type":"entry-dictionary","title":"Orbital cleft"},{"container-title":"HP:0031575","author":[{"family":"As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031575","type":"entry-dictionary","title":"Tessier number 3 facial cleft"},{"container-title":"HP:0031576","author":[{"family":"The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031576","type":"entry-dictionary","title":"Tessier number 4 facial cleft"},{"container-title":"HP:0031577","author":[{"family":"The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031577","type":"entry-dictionary","title":"Tessier number 5 facial cleft"},{"container-title":"HP:0031578","author":[{"family":"A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. Aleft-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031578","type":"entry-dictionary","title":"Tessier number 6 facial cleft"},{"container-title":"HP:0031579","author":[{"family":"The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031579","type":"entry-dictionary","title":"Tessier number 7 facial cleft"},{"container-title":"HP:0031580","author":[{"family":"The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031580","type":"entry-dictionary","title":"Tessier number 8 facial cleft"},{"container-title":"HP:0031581","author":[{"family":"This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031581","type":"entry-dictionary","title":"Tessier number 9 facial cleft"},{"container-title":"HP:0031582","author":[{"family":"In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031582","type":"entry-dictionary","title":"Tessier number 10 facial cleft"},{"container-title":"HP:0031583","author":[{"family":"An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031583","type":"entry-dictionary","title":"Tessier number 11 facial cleft"},{"container-title":"HP:0031584","author":[{"family":"There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031584","type":"entry-dictionary","title":"Tessier number 12 facial cleft"},{"container-title":"HP:0031585","author":[{"family":"There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031585","type":"entry-dictionary","title":"Tessier number 13 facial cleft"},{"container-title":"HP:0031586","author":[{"family":"This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031586","type":"entry-dictionary","title":"Tessier number 14 facial cleft"},{"container-title":"HP:0031587","author":[{"family":"A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031587","type":"entry-dictionary","title":"Tessier number 30 facial cleft"},{"container-title":"HP:0031588","author":[{"family":"A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031588","type":"entry-dictionary","title":"Unhappy demeanor"},{"container-title":"HP:0031589","author":[{"family":"Frequent thinking about or preoccupation with killing onself."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031589","type":"entry-dictionary","title":"Suicidal ideation"},{"container-title":"HP:0031590","author":[{"family":"eye strain"},{"family":"Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031590","type":"entry-dictionary","title":"Asthenopia"},{"container-title":"HP:0031591","author":[{"family":"giant eustachian valve"},{"family":"enlarged inferior vena cava valve"},{"family":"An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031591","type":"entry-dictionary","title":"Enlarged Eustachian valve"},{"container-title":"HP:0031592","author":[{"family":"Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and\/or spleen defects including asplenia or polysplenia."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031592","type":"entry-dictionary","title":"Situs inversus with levocardia"},{"container-title":"HP:0031593","author":[{"family":"An anomaly of the PR interval, which is the portion of the ECG from the end of the P wave to the beginning of the QRS complex. A normal PR interval in adults is from 0.12-0.2 seconds."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031593","type":"entry-dictionary","title":"Abnormal PR interval"},{"container-title":"HP:0031594","author":[{"family":"pta depression"},{"family":"pr interval depression"},{"family":"A reduction in voltage of the PR segment below baseline."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031594","type":"entry-dictionary","title":"PR segment depression"},{"container-title":"HP:0031595","author":[{"family":"Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031595","type":"entry-dictionary","title":"Abnormal P wave"},{"container-title":"HP:0031596","author":[{"family":"An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031596","type":"entry-dictionary","title":"Abnormal PR segment"},{"container-title":"HP:0031597","author":[{"family":"pr interval elevation"},{"family":"pta elevation"},{"family":"An increase in voltage of the PR segment below baseline."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031597","type":"entry-dictionary","title":"PR segment elevation"},{"container-title":"HP:0031598","author":[{"family":"V-shaped cut (notch) in the middle of the P wave."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031598","type":"entry-dictionary","title":"Notched P wave"},{"container-title":"HP:0031599","author":[{"family":"A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031599","type":"entry-dictionary","title":"P mitrale"},{"container-title":"HP:0031600","author":[{"family":"P wave below insteadof above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031600","type":"entry-dictionary","title":"P wave inversion"},{"container-title":"HP:0031601","author":[{"family":"The presence of tall, peaked P waves in EKG lead II."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031601","type":"entry-dictionary","title":"P pulmonale"},{"container-title":"HP:0031602","author":[{"family":"abnormal mucociliary transport"},{"family":"An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031602","type":"entry-dictionary","title":"Abnormal mucociliary clearance"},{"container-title":"HP:0031603","author":[{"family":"abnormal saccharine test"},{"family":"An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031603","type":"entry-dictionary","title":"Impaired nasal mucociliary clearance"},{"container-title":"HP:0031604","author":[{"family":"bony carotid canal agenesis"},{"family":"A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031604","type":"entry-dictionary","title":"Agenesis of the carotid canal"},{"container-title":"HP:0031605","author":[{"family":"Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031605","type":"entry-dictionary","title":"Abnormality of fundus pigmentation"},{"container-title":"HP:0031606","author":[{"family":"Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031606","type":"entry-dictionary","title":"Retinal cotton wool spot"},{"container-title":"HP:0031607","author":[{"family":"Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031607","type":"entry-dictionary","title":"Pelvic organ prolapse"},{"container-title":"HP:0031609","author":[{"family":"Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031609","type":"entry-dictionary","title":"Geographic atrophy"},{"container-title":"HP:0031610","author":[{"family":"multiple shoulder dislocation"},{"family":"Shoulder dislocation occurring repeated times."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031610","type":"entry-dictionary","title":"Recurrent should dislocation"},{"container-title":"HP:0031611","author":[{"family":"sub-inner limiting membrane haemorrhage"},{"family":"sub-ilm hemorrhage"},{"family":"sub-ilm haemorrhage"},{"family":"A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031611","type":"entry-dictionary","title":"Sub-inner limiting membrane hemorrhage"},{"container-title":"HP:0031613","author":[{"family":"Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031613","type":"entry-dictionary","title":"Inferior chorioretinal coloboma"},{"container-title":"HP:0031614","author":[{"family":"A notch or cleft of the lower part of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031614","type":"entry-dictionary","title":"Inferior retinal coloboma"},{"container-title":"HP:0031615","author":[{"family":"Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031615","type":"entry-dictionary","title":"Hypopyon"},{"container-title":"HP:0031616","author":[{"family":"An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031616","type":"entry-dictionary","title":"Anterior chamber flare"},{"container-title":"HP:0031618","author":[{"family":"Faint anterior chamber flare."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031618","type":"entry-dictionary","title":"Anterior chamber flare grade 1+"},{"container-title":"HP:0031619","author":[{"family":"Moderate anterior chamber flare (iris and lens details clear)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031619","type":"entry-dictionary","title":"Anterior chamber flare grade 2+"},{"container-title":"HP:0031620","author":[{"family":"Marked anterior chamber flare (iris and lens details hazy)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031620","type":"entry-dictionary","title":"Anterior chamber flare grade 3+"},{"container-title":"HP:0031621","author":[{"family":"Intense anterior chamber flare (fibrin\/plastic aqueous)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031621","type":"entry-dictionary","title":"Anterior chamber flare grade 4+"},{"container-title":"HP:0031622","author":[{"family":"brown syndrome"},{"family":"An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031622","type":"entry-dictionary","title":"Brown anomaly"},{"container-title":"HP:0031623","author":[{"family":"drooping brow"},{"family":"Drooping of the upper eyebrow below the superior orbital rim."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031623","type":"entry-dictionary","title":"Brow ptosis"},{"container-title":"HP:0031624","author":[{"family":"A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031624","type":"entry-dictionary","title":"Moderate myopia"},{"container-title":"HP:0031625","author":[{"family":"a contained rupture of an artery with a disruption in all 3 layers of the arterial wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031625","type":"entry-dictionary","title":"Pseudoaneurysm"},{"container-title":"HP:0031626","author":[{"family":"atresia of coronary ostium"},{"family":"Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031626","type":"entry-dictionary","title":"Coronary ostial atresia"},{"container-title":"HP:0031627","author":[{"family":"Pathological deposition of calcium salts in the globus pallidus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031627","type":"entry-dictionary","title":"Globus pallidus calcification"},{"container-title":"HP:0031628","author":[{"family":"Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031628","type":"entry-dictionary","title":"Aborted sudden cardiac death"},{"container-title":"HP:0031629","author":[{"family":"clumsy tandem walking"},{"family":"Reduced ability to walk in a straight line while placing the feet heal to toe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031629","type":"entry-dictionary","title":"Impaired tandem gait"},{"container-title":"HP:0031630","author":[{"family":"Any structural anomaly located between the pleura and the chest wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031630","type":"entry-dictionary","title":"Abnormal subpleural morphology"},{"container-title":"HP:0031631","author":[{"family":"So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031631","type":"entry-dictionary","title":"Subpleural honeycombing"},{"container-title":"HP:0031632","author":[{"family":"Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031632","type":"entry-dictionary","title":"Anomalous origin of the right subclavian artery from the descending aorta"},{"container-title":"HP:0031633","author":[{"family":"The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031633","type":"entry-dictionary","title":"Isolation of the left subclavian artery"},{"container-title":"HP:0031634","author":[{"family":"The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031634","type":"entry-dictionary","title":"Anomalous origin of the left common carotid artery from the main pulmonary artery"},{"container-title":"HP:0031635","author":[{"family":"anomalous origin of the left common carotid artery from the brachiocephalic trunk"},{"family":"The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031635","type":"entry-dictionary","title":"Anomalous origin of the left common carotid artery from the brachiocephalic artery"},{"container-title":"HP:0031636","author":[{"family":"The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031636","type":"entry-dictionary","title":"Anomalous origin of the right common carotid artery from the aorta"},{"container-title":"HP:0031637","author":[{"family":"Absence of the normal opening of the coronary ostium from which the right main coronary artery originates."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031637","type":"entry-dictionary","title":"Right coronary artery ostial atresia"},{"container-title":"HP:0031638","author":[{"family":"The left anterior descending artery (LAD) branches off from the pulmonary artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031638","type":"entry-dictionary","title":"Anomalous origin of the left anterior descending artery from the pulmonary artery"},{"container-title":"HP:0031639","author":[{"family":"absent lmca"},{"family":"The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031639","type":"entry-dictionary","title":"Absent left main coronary artery"},{"container-title":"HP:0031640","author":[{"family":"Any structural anomaly of the radial artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031640","type":"entry-dictionary","title":"Abnormal radial artery morphology"},{"container-title":"HP:0031643","author":[{"family":"An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031643","type":"entry-dictionary","title":"Fusiform ascending tubular aorta aneurysm"},{"container-title":"HP:0031644","author":[{"family":"A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031644","type":"entry-dictionary","title":"Fusiform abdominal aortic aneurysm"},{"container-title":"HP:0031645","author":[{"family":"An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031645","type":"entry-dictionary","title":"Saccular abdominal aortic aneurysm"},{"container-title":"HP:0031646","author":[{"family":"A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031646","type":"entry-dictionary","title":"Fusiform aortic arch aneurysm"},{"container-title":"HP:0031647","author":[{"family":"An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031647","type":"entry-dictionary","title":"Saccular aortic arch aneurysm"},{"container-title":"HP:0031648","author":[{"family":"A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031648","type":"entry-dictionary","title":"Penetrating aortic ulcer"},{"container-title":"HP:0031649","author":[{"family":"Tearing of the aortic wall generally associated with profuse internal bleeding."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031649","type":"entry-dictionary","title":"Aortic rupture"},{"container-title":"HP:0031650","author":[{"family":"Any functional defect of the mitral or tricuspid valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031650","type":"entry-dictionary","title":"Abnormal atrioventricular valve physiology"},{"container-title":"HP:0031651","author":[{"family":"Any functional defect of the tricuspid valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031651","type":"entry-dictionary","title":"Abnormal tricuspid valve physiology"},{"container-title":"HP:0031652","author":[{"family":"Abnormal aortic valve physiology"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031652","type":"entry-dictionary","title":"Abnormal aortic valve physiology"},{"container-title":"HP:0031653","author":[{"family":"Any functional abnormality of a cardiac valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031653","type":"entry-dictionary","title":"Abnormal heart valve physiology"},{"container-title":"HP:0031654","author":[{"family":"Any functional anomaly of the pumonary valve."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031654","type":"entry-dictionary","title":"Abnormal pulmonary valve physiology"},{"container-title":"HP:0031655","author":[{"family":"The presence of an aortic valve with four instead of the normal three cusps (flaps)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031655","type":"entry-dictionary","title":"Quadricuspid aortic valve"},{"container-title":"HP:0031656","author":[{"family":"Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031656","type":"entry-dictionary","title":"Sytolic anterior motion of the mitral valve"},{"container-title":"HP:0031657","author":[{"family":"Any abnormal noise generated by the beating heart."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031657","type":"entry-dictionary","title":"Abnormal heart sound"},{"container-title":"HP:0031658","author":[{"family":"The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031658","type":"entry-dictionary","title":"Third heart sound"},{"container-title":"HP:0031659","author":[{"family":"Fourth heart sound"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031659","type":"entry-dictionary","title":"Fourth heart sound"},{"container-title":"HP:0031660","author":[{"family":"Abnormally increased volume of the first heart sound."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031660","type":"entry-dictionary","title":"Loud first heart sound"},{"container-title":"HP:0031661","author":[{"family":"Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031661","type":"entry-dictionary","title":"Abnormal second heart sound"},{"container-title":"HP:0031662","author":[{"family":"fixed splitting of s2"},{"family":"Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031662","type":"entry-dictionary","title":"Fixed splitting of the second heart sound"},{"container-title":"HP:0031663","author":[{"family":"paradoxical splitting of s2"},{"family":"reversed splitting of s2"},{"family":"reversed splitting of the second heart sound"},{"family":"Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031663","type":"entry-dictionary","title":"Paradoxical splitting of the second heart sound"},{"container-title":"HP:0031664","author":[{"family":"A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031664","type":"entry-dictionary","title":"Systolic heart murmur"},{"container-title":"HP:0031665","author":[{"family":"A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031665","type":"entry-dictionary","title":"Midsystolic murmur"},{"container-title":"HP:0031666","author":[{"family":"A murmur that occurs in the latter phase of systole."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031666","type":"entry-dictionary","title":"Late sytolic murmur"},{"container-title":"HP:0031667","author":[{"family":"A heart murmur that occurs during the entire systolic phase from S1 to S2."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031667","type":"entry-dictionary","title":"Holosystolic murmur"},{"container-title":"HP:0031668","author":[{"family":"A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031668","type":"entry-dictionary","title":"Diastolic heart murmur"},{"container-title":"HP:0031669","author":[{"family":"A murmur that occurs in the middle of the diastolic phase."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031669","type":"entry-dictionary","title":"Middiastolic murmur"},{"container-title":"HP:0031670","author":[{"family":"A murmur that occurs in both systole and diastole."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031670","type":"entry-dictionary","title":"Continuous heart murmur"},{"container-title":"HP:0031671","author":[{"family":"Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031671","type":"entry-dictionary","title":"Typical atrial flutter"},{"container-title":"HP:0031672","author":[{"family":"A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031672","type":"entry-dictionary","title":"Reverse typical atrial flutter"},{"container-title":"HP:0031673","author":[{"family":"orthodromic avrt"},{"family":"A type of atrioventricular reentrant tachycardia (AVRT) where the are the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031673","type":"entry-dictionary","title":"Orthodromic atrioventricular reentrant tachycardia"},{"container-title":"HP:0031674","author":[{"family":"antidromic avrt"},{"family":"A type of atrioventricular reentrant tachycardia (AVRT) where the are the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031674","type":"entry-dictionary","title":"Antidromic atrioventricular reentrant tachycardia"},{"container-title":"HP:0031675","author":[{"family":"A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031675","type":"entry-dictionary","title":"Fascicular left ventricular tachycardia"},{"container-title":"HP:0031676","author":[{"family":"A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031676","type":"entry-dictionary","title":"Monomorphic ventricular tachycardia"},{"container-title":"HP:0031677","author":[{"family":"A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031677","type":"entry-dictionary","title":"Polymorphic ventricular tachycardia"},{"container-title":"HP:0031678","author":[{"family":"A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031678","type":"entry-dictionary","title":"Atherosclerotic lesion"},{"container-title":"HP:0031679","author":[{"family":"Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031679","type":"entry-dictionary","title":"Type I atherosclerotic lesion"},{"container-title":"HP:0031680","author":[{"family":"Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031680","type":"entry-dictionary","title":"Type II atherosclerotic lesion"},{"container-title":"HP:0031681","author":[{"family":"Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031681","type":"entry-dictionary","title":"Type III atherosclerotic lesion"},{"container-title":"HP:0031682","author":[{"family":"Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and\/or thrombus (type VI lesion), and for this reason too they are clinically relevant."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031682","type":"entry-dictionary","title":"Type V atherosclerotic lesion"},{"container-title":"HP:0031683","author":[{"family":"Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031683","type":"entry-dictionary","title":"Type VI atherosclerotic lesion"},{"container-title":"HP:0031684","author":[{"family":"An atherosclerotic lesion located in the renal artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031684","type":"entry-dictionary","title":"Renal artery atherosclerosis"},{"container-title":"HP:0031685","author":[{"family":"abnormal faeces composition"},{"family":"abnormal feces composition"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031685","type":"entry-dictionary","title":"Abnormal stool composition"},{"container-title":"HP:0031686","author":[{"family":"An abnormally elevated amount of alpha1-antitrypsin in the feces."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031686","type":"entry-dictionary","title":"Increased stool alpha1-antitrypsin concentration"},{"container-title":"HP:0031687","author":[{"family":"accentuation of the pulmonic component of the second heart sound"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031687","type":"entry-dictionary","title":"Abnormally loud pulmonic component of the second heart sound"},{"container-title":"HP:0031688","author":[{"family":"Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. In peripheral blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031688","type":"entry-dictionary","title":"Erythroid dysplasia"},{"container-title":"HP:0031689","author":[{"family":"dysmegakaryopoiesis"},{"family":"The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031689","type":"entry-dictionary","title":"Megakaryocyte dysplasia"},{"container-title":"HP:0031690","author":[{"family":"An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031690","type":"entry-dictionary","title":"Opportunistic infection"},{"container-title":"HP:0031691","author":[{"family":"An unusually severe viral infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031691","type":"entry-dictionary","title":"Severe viral infection"},{"container-title":"HP:0031692","author":[{"family":"An unusually severe infection by cytomegalovirus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031692","type":"entry-dictionary","title":"Severe cytomegalovirus infection"},{"container-title":"HP:0031693","author":[{"family":"An unusually severe Epstein Barr virus (EBV) infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031693","type":"entry-dictionary","title":"Severe Epstein Barr virus infection"},{"container-title":"HP:0031694","author":[{"family":"An unusually severe adenovirus infection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031694","type":"entry-dictionary","title":"Severe adenovirus infection"},{"container-title":"HP:0031695","author":[{"family":"An unusually severe infection by a parainfluenza virus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031695","type":"entry-dictionary","title":"Severe parainfluenza infection"},{"container-title":"HP:0031696","author":[{"family":"A viral infection that fails to be contained by the immune sytem and spreads throughout the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031696","type":"entry-dictionary","title":"Disseminated viral infection"},{"container-title":"HP:0031697","author":[{"family":"A dissemination viral infection caused by a live attenuated vaccine virus."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031697","type":"entry-dictionary","title":"Disseminated infection with live vaccine virus"},{"container-title":"HP:0031698","author":[{"family":"Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031698","type":"entry-dictionary","title":"Disseminated Bacillus Calmette-Guerin infection"},{"container-title":"HP:0031699","author":[{"family":"Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031699","type":"entry-dictionary","title":"Disseminated cryptosporidium infection"},{"container-title":"HP:0031700","author":[{"family":"A poarasitic infection whereby the parasite invades (migrates through) tissues of the infected host."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031700","type":"entry-dictionary","title":"Invasive parasitic infection"},{"container-title":"HP:0031701","author":[{"family":"The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031701","type":"entry-dictionary","title":"Anterior chamber inflammatory cells"},{"container-title":"HP:0031702","author":[{"family":"The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031702","type":"entry-dictionary","title":"Anterior chamber red blood cells"},{"container-title":"HP:0031703","author":[{"family":"Any structural anomaly of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031703","type":"entry-dictionary","title":"Abnormal ear morphology"},{"container-title":"HP:0031704","author":[{"family":"Any functional anomaly of the ear."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031704","type":"entry-dictionary","title":"Abnormal ear physiology"},{"container-title":"HP:0031705","author":[{"family":"A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031705","type":"entry-dictionary","title":"Compensatory head posture"},{"container-title":"HP:0031706","author":[{"family":"A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031706","type":"entry-dictionary","title":"Compensatory chin depression"},{"container-title":"HP:0031707","author":[{"family":"A tendency to turn the face to the right to compensate for a limitation of eye movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031707","type":"entry-dictionary","title":"Compensatory face turn to the right"},{"container-title":"HP:0031708","author":[{"family":"A tendency to turn the face to the left to compensate for a limitation of eye movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031708","type":"entry-dictionary","title":"Compensatory face turn to the left"},{"container-title":"HP:0031709","author":[{"family":"A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031709","type":"entry-dictionary","title":"Compensatory head tilt to the right shoulder"},{"container-title":"HP:0031710","author":[{"family":"A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031710","type":"entry-dictionary","title":"Compensatory head tilt to the left shoulder"},{"container-title":"HP:0031711","author":[{"family":"An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031711","type":"entry-dictionary","title":"Asymmetric abdominal aortic aneurysm"},{"container-title":"HP:0031713","author":[{"family":"A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031713","type":"entry-dictionary","title":"Constant exotropia"},{"container-title":"HP:0031714","author":[{"family":"A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittant."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031714","type":"entry-dictionary","title":"Distance exotropia"},{"container-title":"HP:0031715","author":[{"family":"An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031715","type":"entry-dictionary","title":"Near exotropia"},{"container-title":"HP:0031716","author":[{"family":"A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031716","type":"entry-dictionary","title":"Cyclic exotropia"},{"container-title":"HP:0031717","author":[{"family":"alternating strabismus"},{"family":"A type of exotropia in which either eye may be used for fixation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031717","type":"entry-dictionary","title":"Alternating exotropia"},{"container-title":"HP:0031718","author":[{"family":"Exotropia in an individual who has previously had esotropia or esophoria."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031718","type":"entry-dictionary","title":"Consecutive exotropia"},{"container-title":"HP:0031719","author":[{"family":"Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence\/accommodation (AC:A) ratio is within normal limits."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031719","type":"entry-dictionary","title":"True distance exotropia"},{"container-title":"HP:0031720","author":[{"family":"Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and\/or (2) elimination of accommodation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031720","type":"entry-dictionary","title":"Simulated distance exotropia"},{"container-title":"HP:0031721","author":[{"family":"secondary exotropia"},{"family":"a type of divergent strabismus (exotropia) that develops in a poorly seeing eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031721","type":"entry-dictionary","title":"Sensory exotropia"},{"container-title":"HP:0031722","author":[{"family":"non-accomodative convergence excess esotropia"},{"family":"An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031722","type":"entry-dictionary","title":"Near esotropia"},{"container-title":"HP:0031723","author":[{"family":"sensory esotropia"},{"family":"Convergent squint which follows loss or impairment of vision."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031723","type":"entry-dictionary","title":"Secondary esotropia"},{"container-title":"HP:0031724","author":[{"family":"A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031724","type":"entry-dictionary","title":"Microtropia"},{"container-title":"HP:0031725","author":[{"family":"A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031725","type":"entry-dictionary","title":"Hypophoria"},{"container-title":"HP:0031726","author":[{"family":"A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031726","type":"entry-dictionary","title":"Incyclotropia"},{"container-title":"HP:0031727","author":[{"family":"A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031727","type":"entry-dictionary","title":"Excyclotropia"},{"container-title":"HP:0031728","author":[{"family":"mild hyperopia"},{"family":"A form of hypermetropia with not more that +2.00 diopters."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031728","type":"entry-dictionary","title":"Mild hypermetropia"},{"container-title":"HP:0031729","author":[{"family":"moderate hyperopia"},{"family":"A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031729","type":"entry-dictionary","title":"Moderate hypermetropia"},{"container-title":"HP:0031730","author":[{"family":"A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031730","type":"entry-dictionary","title":"Axial myopia"},{"container-title":"HP:0031731","author":[{"family":"Increased lacrimation owing to overproduction of tears."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031731","type":"entry-dictionary","title":"Increased tear production"},{"container-title":"HP:0031732","author":[{"family":"A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031732","type":"entry-dictionary","title":"Increased basal tear production"},{"container-title":"HP:0031733","author":[{"family":"A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031733","type":"entry-dictionary","title":"Reflex tearing"},{"container-title":"HP:0031734","author":[{"family":"A form of watery eye associated with abnormal lid tone and\/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031734","type":"entry-dictionary","title":"Lacrimal pump failure"},{"container-title":"HP:0031736","author":[{"family":"An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031736","type":"entry-dictionary","title":"Involutional entropion"},{"container-title":"HP:0031737","author":[{"family":"Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031737","type":"entry-dictionary","title":"Cicatricial entropion"},{"container-title":"HP:0031738","author":[{"family":"A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031738","type":"entry-dictionary","title":"Mechanical entropion"},{"container-title":"HP:0031739","author":[{"family":"A functional anomaly of the inferior or superior oblique muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031739","type":"entry-dictionary","title":"Abnormal oblique muscle physiology"},{"container-title":"HP:0031740","author":[{"family":"A functional anomaly of the medial rectus muscle or lateral rectus muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031740","type":"entry-dictionary","title":"Abnormal horizontal rectus muscle physiology"},{"container-title":"HP:0031741","author":[{"family":"Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031741","type":"entry-dictionary","title":"Inferior oblique muscle underaction"},{"container-title":"HP:0031742","author":[{"family":"Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031742","type":"entry-dictionary","title":"Inferior rectus muscle underaction"},{"container-title":"HP:0031743","author":[{"family":"Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031743","type":"entry-dictionary","title":"Inferior rectus muscle overaction"},{"container-title":"HP:0031744","author":[{"family":"Decreased strength of the superior rectus muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031744","type":"entry-dictionary","title":"Superior rectus muscle weakness"},{"container-title":"HP:0031745","author":[{"family":"Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031745","type":"entry-dictionary","title":"Superior rectus muscle overaction"},{"container-title":"HP:0031746","author":[{"family":"Mechanical limitation of the range of movement of the superior rectus muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031746","type":"entry-dictionary","title":"Superior rectus muscle rescriction"},{"container-title":"HP:0031747","author":[{"family":"Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031747","type":"entry-dictionary","title":"Superior rectus muscle underaction"},{"container-title":"HP:0031748","author":[{"family":"A functional anomaly of the superior or inferior rectus muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031748","type":"entry-dictionary","title":"Abnormal vertical rectus muscle physiology"},{"container-title":"HP:0031749","author":[{"family":"A functional anomaly of the lateral rectus muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031749","type":"entry-dictionary","title":"Abnormal lateral rectus muscle physiology"},{"container-title":"HP:0031750","author":[{"family":"Decreased strength (ability to move) of the lateral rectus muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031750","type":"entry-dictionary","title":"Lateral rectus muscle weakness"},{"container-title":"HP:0031751","author":[{"family":"Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031751","type":"entry-dictionary","title":"Lateral rectus muscle underaction"},{"container-title":"HP:0031752","author":[{"family":"Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031752","type":"entry-dictionary","title":"Lateral rectus muscle overaction"},{"container-title":"HP:0031753","author":[{"family":"Decreased strength of the medial rectus muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031753","type":"entry-dictionary","title":"Medial rectus muscle weakness"},{"container-title":"HP:0031754","author":[{"family":"Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031754","type":"entry-dictionary","title":"Medial rectus muscle overaction"},{"container-title":"HP:0031755","author":[{"family":"A functional anomaly of a vertical or horizontal rectus muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031755","type":"entry-dictionary","title":"Abnormal rectus muscle physiology"},{"container-title":"HP:0031756","author":[{"family":"Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031756","type":"entry-dictionary","title":"Medial rectus muscle underaction"},{"container-title":"HP:0031757","author":[{"family":"Mechanical limitation of the range of movement of the medial rectus muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031757","type":"entry-dictionary","title":"Medial rectus muscle restriction"},{"container-title":"HP:0031758","author":[{"family":"Mechanical limitation of the range of movement of the lateral rectus muscle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031758","type":"entry-dictionary","title":"Lateral rectus muscle restriction"},{"container-title":"HP:0031759","author":[{"family":"A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031759","type":"entry-dictionary","title":"Basic (constant) esotropia"},{"container-title":"HP:0031760","author":[{"family":"A form of esotropia in which the angle of deviation is not affected by accommodative effort."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031760","type":"entry-dictionary","title":"Non-accomodative esotropia"},{"container-title":"HP:0031761","author":[{"family":"Infantile (constant) esotropia"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031761","type":"entry-dictionary","title":"Infantile (constant) esotropia"},{"container-title":"HP:0031762","author":[{"family":"An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031762","type":"entry-dictionary","title":"Distance esotropia"},{"container-title":"HP:0031763","author":[{"family":"Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031763","type":"entry-dictionary","title":"Cyclic esotropia"},{"container-title":"HP:0031764","author":[{"family":"Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031764","type":"entry-dictionary","title":"Fully accomodative esotropia"},{"container-title":"HP:0031765","author":[{"family":"constant esotropia with an accommodative element"},{"family":"constant esotropia with an accommodative component"},{"family":"A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031765","type":"entry-dictionary","title":"Partially accomodative esotropia"},{"container-title":"HP:0031766","author":[{"family":"An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence\/accommodation (AC\/A) ratio."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031766","type":"entry-dictionary","title":"Convergence excess esotropia"},{"container-title":"HP:0031767","author":[{"family":"Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent. and usually follows surgical overcorrection."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031767","type":"entry-dictionary","title":"Consecutive esotropia"},{"container-title":"HP:0031768","author":[{"family":"Fixation of an object in the area adjacent to the fovea."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031768","type":"entry-dictionary","title":"Parafoveal fixation"},{"container-title":"HP:0031769","author":[{"family":"Fixation of an object in a peripheral area of the retina."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031769","type":"entry-dictionary","title":"Peripheral fixation"},{"container-title":"HP:0031770","author":[{"family":"A type of epicanthus in which a medial vertical fold is present between upper and lower lids."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031770","type":"entry-dictionary","title":"Epicanthus palpebralis"},{"container-title":"HP:0031771","author":[{"family":"A type of epicanthus in which a primarily upper lid fold is present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031771","type":"entry-dictionary","title":"Epicanthus tarsalis"},{"container-title":"HP:0031772","author":[{"family":"Any structural anomaly of the posterior circulating artery (PCOM)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031772","type":"entry-dictionary","title":"Abnormal posterior circulating artery morphology"},{"container-title":"HP:0031773","author":[{"family":"A widening (ballooning) localized in the wall of the posterior communicating artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031773","type":"entry-dictionary","title":"Posterior communicating artery aneurysm"},{"container-title":"HP:0031774","author":[{"family":"A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031774","type":"entry-dictionary","title":"Posterior communicating artery infundibulum"},{"container-title":"HP:0031775","author":[{"family":"paralytic strabismus"},{"family":"An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031775","type":"entry-dictionary","title":"Neurogenic strabismus"},{"container-title":"HP:0031776","author":[{"family":"A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031776","type":"entry-dictionary","title":"Cyclotropia"},{"container-title":"HP:0031777","author":[{"family":"A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031777","type":"entry-dictionary","title":"Cyclophoria"},{"container-title":"HP:0031778","author":[{"family":"A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031778","type":"entry-dictionary","title":"Incyclophoria"},{"container-title":"HP:0031779","author":[{"family":"A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031779","type":"entry-dictionary","title":"Excyclophoria"},{"container-title":"HP:0031780","author":[{"family":"A type of ascites in which there are large numbers of eosinophils in the ascitis fluid."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031780","type":"entry-dictionary","title":"Eosinophilic ascites"},{"container-title":"HP:0031781","author":[{"family":"A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031781","type":"entry-dictionary","title":"Microtropia with identity"},{"container-title":"HP:0031782","author":[{"family":"A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031782","type":"entry-dictionary","title":"Microtropia without identity"},{"container-title":"HP:0031783","author":[{"family":"A developmental defect in which the coronary sinus fails to form."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031783","type":"entry-dictionary","title":"Absent coronary sinus"},{"container-title":"HP:0031784","author":[{"family":"Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031784","type":"entry-dictionary","title":"Abnormal ascending aorta morphology"},{"container-title":"HP:0031785","author":[{"family":"An abnormality in voluntary or involuntary eyelid movements or their control."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031785","type":"entry-dictionary","title":"Abnormal eyelid movement"},{"container-title":"HP:0031786","author":[{"family":"cogan eyelid twitch"},{"family":"Transient eyelid retraction during refixation from down to straight ahead."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031786","type":"entry-dictionary","title":"Cogan lid twitch"},{"container-title":"HP:0031787","author":[{"family":"Astigmatism in which the refractive power of the vertical meridian is the greatest."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031787","type":"entry-dictionary","title":"Oblique astigmatism"},{"container-title":"HP:0031788","author":[{"family":"Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031788","type":"entry-dictionary","title":"With the rule astigmatism"},{"container-title":"HP:0031789","author":[{"family":"Astigmatism with more plus power on the horizontal meridian."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031789","type":"entry-dictionary","title":"Against the rule astigmatism"},{"container-title":"HP:0031790","author":[{"family":"A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted)."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031790","type":"entry-dictionary","title":"Mixed astigmatism"},{"container-title":"HP:0031791","author":[{"family":"A type of astigmatism related to an irregular shape of the lens."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031791","type":"entry-dictionary","title":"Lenticular astigmatism"},{"container-title":"HP:0031792","author":[{"family":"A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031792","type":"entry-dictionary","title":"Irregular astigmatism"},{"container-title":"HP:0031793","author":[{"family":"elevated circulating leptin level"},{"family":"An increased concentration of leptin in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031793","type":"entry-dictionary","title":"Increased serum leptin"},{"container-title":"HP:0031794","author":[{"family":"A decrease below the normal concentration of glycerol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031794","type":"entry-dictionary","title":"Decreased circulating glycerol level"},{"container-title":"HP:0031795","author":[{"family":"Any deviation from the normal concentration of glycerol in the blood."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031795","type":"entry-dictionary","title":"Abnormal circulating glycerol level"},{"container-title":"HP:0031796","author":[{"family":"intermittent"},{"family":"Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031796","type":"entry-dictionary","title":"Recurrent"},{"container-title":"HP:0031798","author":[{"family":"elevated apob level"},{"family":"Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031798","type":"entry-dictionary","title":"Elevated apolipoprotein B level"},{"container-title":"HP:0031799","author":[{"family":"decreased apoa-i level"},{"family":"decreased apo-ai level"},{"family":"Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031799","type":"entry-dictionary","title":"Decreased apolipoprotein AI level"},{"container-title":"HP:0031800","author":[{"family":"elevated apoaii level"},{"family":"elevated apoa-ii level"},{"family":"elevated apo-aii level"},{"family":"An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031800","type":"entry-dictionary","title":"Elevated apolipoprotein A-II level"},{"container-title":"HP:0031801","author":[{"family":"Any functional anomaly of the vocal cord."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031801","type":"entry-dictionary","title":"Vocal cord dysfunction"},{"container-title":"HP:0031803","author":[{"family":"Bleeding within the fundus of the eye."}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031803","type":"entry-dictionary","title":"Fundus hemorrhage"},{"container-title":"HP:0031804","author":[{"family":"Premacular hemorrhage"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031804","type":"entry-dictionary","title":"Premacular hemorrhage"},{"container-title":"HP:0031805","author":[{"family":"Intraretinal hemorrhage"}],"id":"http:\/\/purl.obolibrary.org\/obo\/HP_0031805","type":"entry-dictionary","title":"Intraretinal hemorrhage"}]