| 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:0000846 | Adrenal insufficiency | |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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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:0001394 | Cirrhosis | |
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| HP:0001395 | Hepatic fibrosis | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001433 | Hepatosplenomegaly | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001510 | Growth retardation | |
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| HP:0001522 | Death in infancy | |
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| HP:0001538 | Protuberant abdomen | "A thrusting or bulging out of the abdomen." [HPO:curators] |
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| HP:0001541 | Ascites | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001903 | Anemia | |
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| HP:0001922 | Vacuolated lymphocytes | |
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| HP:0001945 | Fever | |
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| HP:0002013 | Vomiting | |
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| HP:0002014 | Diarrhea | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002040 | Esophageal varices | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002570 | Steatorrhea | |
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| HP:0002634 | Arteriosclerosis | |
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| HP:0003124 | Hypercholesterolemia | |
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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:0004326 | Cachexia | |
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| HP:0004333 | Foam cells on bone marrow biopsy | |
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| HP:0004395 | Malnutrition | |
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| HP:0010512 | Adrenal calcification | "Calcification within the adrenal glands. This condition may occur in a wide variety of pathologies, some serious and some with no obvious consequence. Adrenal hemorrhage may be detected as an incidental finding in children in radiographic studies of the abdomen. Etiologies include hemorrhage into the adrenals at or immediately after birth, neuroblastoma, ganglioneuroblastoma, cortical carcinoma, pheochromocytoma, and cysts." [HPO:curators] |
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