| 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:0000320 | Bird-like facies | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000535 | Sparse eyebrows | |
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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:0000677 | Oligodontia | "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators] |
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| HP:0000685 | Hypoplastic teeth | |
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| HP:0000691 | Microdontia | |
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| HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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| HP:0000958 | Dry skin | |
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| HP:0000966 | Hypohidrosis | "Abnormally diminished capacity to sweat." [HPO:curators] |
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| HP:0000968 | Ectodermal dysplasia | |
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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:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [HPO:curators] |
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| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001792 | Nail hypoplasia | "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] |
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| HP:0001798 | Anonychia | "Total absence of nails." [HPO:curators] |
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| HP:0001806 | Onycholysis | |
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| HP:0001807 | Nail ridging | |
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| HP:0001810 | Dystrophic toenails | |
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| HP:0001816 | Thin nails | |
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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:0002213 | Fine hair | |
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| HP:0002231 | Sparse body hair | "Sparseness of the body hair." [HPO:probinson] |
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| HP:0002671 | Basal cell carcinoma | |
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| HP:0002860 | Squamous cell carcinoma | |
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| HP:0006323 | Premature deciduous tooth loss | |
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| HP:0006342 | Absent or peg-shaped lateral incisors | |
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| HP:0006349 | Absence of permanent teeth | "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodonita, and adontia of the permanent dentition." [HPO:probinson] |
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| HP:0006481 | Abnormality of deciduous teeth | "Any abnormality of the primary (deciduous or milk) teeth." [HO:curators] |
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| HP:0006482 | Abnormality of dental morphology | |
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| HP:0007380 | Facial telangiectatic vessels | "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face." [HPO:curators] |
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| HP:0007410 | Palmoplantar hyperhidrosis | |
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| HP:0007556 | Plantar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the sole of the foot." [HPO:probinson] |
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| HP:0008070 | Sparse hair | |
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| HP:0008388 | Abnormality of the toenails | |
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| HP:0008391 | Mildly dystrophic fingernails | |
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| HP:0009804 | Reduced number of teeth | |
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| HP:0010298 | Smooth tongue | "Glossy appearance of the entire tongue surface." [pmid:19125428] |
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| HP:0010764 | Short eyelashes | "Decreased length of the eyelashes (subjective)." [HPO:probinson] |
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| HP:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] |
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| HP:0011313 | Narrow nail | "Decreased width of nail." [pmid:19125433] |
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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:0025092 | Epidermal acanthosis | "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." [] |
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| HP:0045075 | Sparse eyebrow | "Decreased density/number of eyebrow hairs." [HPO:skoehler] |
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| HP:0100615 | Ovarian neoplasm | "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] |
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| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | "Absence or underdevelopment of the eyebrow." [HPO:probinson] |
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