| HP:0000006 | Autosomal dominant inheritance | "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." [HPO:curators] |
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| HP:0000028 | Cryptorchidism | "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." [HPO:curators] |
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| HP:0000076 | Vesicoureteral reflux | "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." [HPO:curators] |
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| HP:0000089 | Renal hypoplasia | |
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| HP:0000110 | Renal dysplasia | |
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| HP:0000233 | Thin vermillion border | |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000325 | Triangular facies | |
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| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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| HP:0000400 | Large ears | |
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| HP:0000482 | Microcornea | "A congenital abnormality of the `cornea` (FMA:58238) 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." [HPO:probinson] |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000490 | Deep set eyes | |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000520 | Proptosis | |
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| HP:0000533 | Chorioretinal atrophy | |
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| HP:0000545 | Myopia | |
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| HP:0000580 | Pigmentary retinopathy | |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000585 | Band keratopathy | "An `abnormality of the cornea` (HP:0000481) characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation." [HPO:probinson] |
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| HP:0000627 | Posterior embryotoxon | |
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| HP:0000772 | Abnormality of the ribs | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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| HP:0001284 | Areflexia | |
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| HP:0001297 | Stroke | |
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| HP:0001328 | Learning disability | |
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| HP:0001394 | Cirrhosis | |
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| HP:0001396 | Cholestasis | |
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| HP:0001402 | Hepatocellular carcinoma | |
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| HP:0001492 | Axenfeld anomaly | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0001636 | Tetralogy of Fallot | "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." [HPO:curators] |
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| HP:0001680 | Coarctation of aorta | "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators] |
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| HP:0001738 | Exocrine pancreatic insufficiency | |
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| HP:0001947 | Renal tubular acidosis | |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0002895 | Papillary thyroid carcinoma | |
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| HP:0002910 | Elevated transaminases | "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." [HPO:curators] |
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| HP:0002937 | Hemivertebrae | |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003124 | Hypercholesterolemia | |
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| HP:0003189 | Long nose | |
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| HP:0003593 | Early onset | |
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| HP:0003829 | Incomplete penetrance | |
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| HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] |
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| HP:0004467 | Preauricular sinus | "The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix." [HPO:curators] |
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| HP:0004617 | Butterfly vertebral arch | "Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends." [HPO:curators] |
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| HP:0004969 | peripheral pulmonary artery stenosis | |
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| HP:0005105 | Abnormal nasal morphology | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0006571 | Intrahepatic duct deficiency | |
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| HP:0006579 | Prolonged neonatal jaundice | |
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| HP:0008659 | Multiple small medullary renal cysts | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0009891 | Hypoplasia of the supraorbital ridges | "Underdevelopment of the supraorbital ridges." [HPO:curators] |
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