| 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:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [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:0000488 | Retinopathy | |
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| HP:0000504 | Abnormality of vision | "Abnormality of eyesight (visual perception)." [HPO:curators] |
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| HP:0000535 | Sparse eyebrows | |
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| HP:0000548 | Cone-rod dystrophy | |
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| HP:0000608 | Macular degeneration | |
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| HP:0000618 | Blindness | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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| HP:0000670 | Carious teeth | |
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| HP:0000687 | Widely spaced teeth | |
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| HP:0000691 | Microdontia | |
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| HP:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] |
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| HP:0000968 | Ectodermal dysplasia | |
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| HP:0000995 | Pigmented nevi | "The presence of increased numbers of pigmented nevi, that is, of small, dark spots on the skin. Pigmented nevi are also known as melanocytic nevi or moles." [HPO:curators] |
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| HP:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [HPO:curators] |
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| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or toes, 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 or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001480 | Freckling | |
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| HP:0001592 | Selective tooth agenesis | |
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| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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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:0002223 | Absent eyebrows | |
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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:0002652 | Skeletal dysplasia | |
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| HP:0002813 | Abnormality of the extremities | "Any abnormality of the arms or legs." [HPO:curators] |
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| HP:0003777 | Pili torti | "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [HPO:curators] |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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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:0007663 | Decreased central vision | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0007754 | Macular dystrophy | |
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| HP:0008002 | Macular pigmentary changes | |
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| HP:0009473 | Joint contractures involving the joints of the hand | |
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| HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
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| HP:0100257 | Ectrodactyly | "A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet." [HPO:sdoelken] |
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| HP:0100326 | Immunologic hypersensitivity | |
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