| 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:0000479 | Abnormality of the retina | |
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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:0000535 | Sparse eyebrows | |
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| HP:0000615 | Abnormality of the pupils | |
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| HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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| HP:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [HPO:curators] |
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| HP:0001806 | Onycholysis | |
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| HP:0001810 | Dystrophic toenails | |
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| HP:0002208 | Coarse hair | |
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| HP:0002213 | Fine hair | |
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| HP:0002217 | Slow-growing hair | |
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| HP:0002224 | Woolly hair | |
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| HP:0002231 | Sparse body hair | "Sparseness of the body hair." [HPO:probinson] |
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| HP:0002299 | Fine, brittle hair | |
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| HP:0004782 | Hypotrichosis of the scalp | "Reduced or lacking hair growth of the scalp." [HPO:curators] |
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| HP:0005338 | Sparse lateral eyebrows | |
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| HP:0005599 | Hair hypopigmentation | |
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| HP:0007436 | Hair-nail ectodermal dysplasia | |
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| HP:0008391 | Mildly dystrophic fingernails | |
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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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