| 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:0000007 | Autosomal recessive 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 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)." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
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| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000670 | Carious teeth | |
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| HP:0000982 | Palmoplantar keratoderma | |
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| HP:0001000 | Abnormality of skin pigmentation | |
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| HP:0001056 | Milia | |
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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:0001075 | Atrophic scars | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001510 | Growth retardation | |
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| HP:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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| HP:0001808 | Fragile nails | |
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| HP:0001903 | Anemia | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002231 | Sparse body hair | "Sparseness of the body hair." [HPO:probinson] |
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| HP:0004552 | scarring alopecia of scalp | |
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| HP:0006089 | Palmar hyperhidrosis | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0007410 | Palmoplantar hyperhidrosis | |
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| HP:0007455 | Adermatoglyphia | |
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| HP:0007556 | Plantar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the sole of the foot." [HPO:probinson] |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0009926 | Increased tear production | "Abnormally in creased lacrimation." [HPO:curators] |
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| HP:0012531 | Pain | "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0200020 | Corneal erosions | "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken] |
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| HP:0200097 | Oral mucusa blisters | |
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