| 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: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:0000535 | Sparse eyebrows | |
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| HP:0000670 | Carious teeth | |
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| HP:0000695 | Neonatal teeth | |
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| HP:0000787 | Kidney stones | |
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| HP:0000972 | Palmoplantar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot." [HPO:probinson] |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0001131 | Corneal dystrophy | |
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| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001601 | Laryngomalacia | |
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| HP:0001609 | Hoarse voice | |
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| HP:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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| HP:0001805 | Thickened nails | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002745 | Oral leukoplakia | |
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| HP:0007410 | Palmoplantar hyperhidrosis | |
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| HP:0008064 | Ichthyosiform abnormality of the skin | |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008392 | Subungual hyperkeratosis | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0009720 | Adenoma sebaceum | "Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis." [HPO:curators] |
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| HP:0011359 | Dry hair | "Hair that lacks the lustre (shine or gleam) of normal hair." [DDD:cmoss] |
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| HP:0012035 | Steatocystoma multiplex | "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)." [HPO:probinson, pmid:20631281] |
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| HP:0025084 | Folliculitis | "Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule." [] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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| HP:0100643 | Abnormality of the nail colour | |
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| HP:0200035 | skin plaques | "A broad papule, or confluence of papules equal to or greater than 10 mm. Has also been defined as an elevated, plateau-like lesion that is greater in its diameter than in its depth." [HPO:SKOEHLER] |
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| HP:0200040 | Skin cysts | "The presence of one or more `cysts` (MPATH:62) of the `skin` (FMA:7163)." [HPO:skoehler] |
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