| 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:0000316 | Hypertelorism | |
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| HP:0000445 | Broad nose | |
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| HP:0001394 | Cirrhosis | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001518 | Low birth weight | |
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| HP:0002014 | Diarrhea | |
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| HP:0002224 | Woolly hair | |
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| HP:0002235 | Pili canaliculi | "Uncombable hair." [HPO:probinson] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002299 | Fine, brittle hair | |
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| HP:0002583 | Severe colitis | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0008070 | Sparse hair | |
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| HP:0009886 | Trichorrhexis nodosa | "Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair." [HPO:curators] |
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| HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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| HP:0011473 | Villous atrophy | "The enteric villi are atrophic or absent." [HPO:probinson] |
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| HP:0012115 | Hepatitis | "Inflammation of the liver." [HPO:probinson] |
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| HP:0030056 | Uncombable hair | "Hair that is disorderly, stands out from the scalp, and cannot be combed flat." [] |
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| HP:0040303 | Decreased serum iron | |
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