| 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:0000134 | Hypogonadism, female | "Lack of function of the female gonads (i.e. ovaries)." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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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:0000580 | Pigmentary retinopathy | |
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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:0000819 | Diabetes mellitus | |
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| HP:0000829 | Hypoparathyroidism | |
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| HP:0001045 | Vitiligo | |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001081 | Cholelithiasis | |
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| HP:0001096 | Keratoconjunctivitis | "Inflammation of the cornea and conjunctiva." [HPO:curators] |
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| HP:0001133 | Constricted visual fields | |
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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:0001746 | Asplenia | "Absence (aplasia) of the spleen." [HPO:curators] |
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| HP:0001903 | Anemia | |
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| HP:0002014 | Diarrhea | |
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| HP:0002024 | Malabsorption | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002582 | Chronic atrophic gastritis | |
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| HP:0002728 | Chronic mucocutaneous candidiasis | |
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| HP:0002960 | Autoimmune disease | |
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| HP:0003118 | Increased serum cortisol | |
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| HP:0003621 | Juvenile onset | |
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| HP:0004319 | Decreased aldosterone production | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0007663 | Decreased central vision | |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0008221 | Enlarged adrenal glands | |
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| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
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| HP:0100651 | Diabetes mellitus Type I | |
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| HP:0100659 | Abnormality of the cerebral vasculature | |
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| HP:0200120 | Chronic active hepatitis | |
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