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:0000238 | Hydrocephalus | |
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HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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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: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:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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HP:0000581 | Blepharophimosis | "Reduced width of the palpebral fissures." [HPO:sdoelken] |
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HP:0000965 | Cutis marmorata | |
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HP:0001057 | Aplasia cutis congenita | "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." [HPO:curators] |
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HP:0001156 | Brachydactyly | |
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HP:0001163 | Abnormality of the metacarpal bones | |
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HP:0001171 | Ectrodactyly (hands) | |
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HP:0001249 | Mental retardation | |
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HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) 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." [HPO:probinson] |
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HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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HP:0001269 | Hemiparesis | "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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HP:0001276 | Hypertonia | |
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HP:0001362 | Skull defect | "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." [HPO:curators] |
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HP:0001394 | Cirrhosis | |
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HP:0001409 | Portal hypertension | |
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HP:0001508 | Failure to thrive | |
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HP:0001541 | Ascites | |
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HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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HP:0001622 | Premature birth | |
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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:0001641 | Abnormality of the pulmonary valve | "An abnormality of the `pulmonary valve` (FMA:7246)." [HPO:probinson] |
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HP:0001804 | Hypoplastic fingernails | "Underdeveloped fingernails." [HPO:curators] |
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HP:0001817 | Absent fingernails | |
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HP:0001873 | Thrombocytopenia | |
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HP:0001882 | Leukopenia | |
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HP:0001883 | Talipes | |
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HP:0002040 | Esophageal varices | |
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HP:0002084 | Encephalocele | |
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HP:0002092 | Pulmonary hypertension | |
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HP:0002132 | Porencephaly | |
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HP:0002239 | Gastrointestinal hemorrhage | |
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HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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HP:0002612 | Congenital hepatic fibrosis | |
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HP:0004050 | Absent hands | |
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HP:0004691 | 2-3 toe syndactyly | "`Syndactyly` (HP:0001159) with fusion of toes two and three." [HPO:sdoelken] |
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HP:0004935 | Pulmonary artery atresia | |
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HP:0006101 | Finger syndactyly | "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"." [HPO:curators] |
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HP:0006970 | Periventricular leukomalacia | |
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HP:0008070 | Sparse hair | |
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HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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HP:0010624 | Aplastic/hypoplastic toenails | |
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HP:0010743 | Hypoplasia of the metatarsal bones | |
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HP:0010760 | Aplasia of the toes | |
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HP:0012745 | Short palpebral fissure | "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." [pmid:19125427] |
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HP:0100026 | Arteriovenous malformations | |
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