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:0000121 | Nephrocalcinosis | |
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HP:0000989 | Pruritus | "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] |
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HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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HP:0001510 | Growth retardation | |
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HP:0001522 | Death in infancy | |
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HP:0001942 | Metabolic acidosis | |
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HP:0001944 | Dehydration | |
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HP:0002014 | Diarrhea | |
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HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
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HP:0004385 | Protracted diarrhea | |
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HP:0004395 | Malnutrition | |
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HP:0011106 | Hypovolemia | "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] |
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HP:0011473 | Villous atrophy | "The enteric villi are atrophic or absent." [HPO:probinson] |
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HP:0012211 | Abnormal renal physiology | "Any functional anomaly of the `kidney` (FMA:7203)." [HPO:probinson] |
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