| 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:0000660 | Lipemia retinalis | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000726 | Dementia | |
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| HP:0000819 | Diabetes mellitus | |
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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:0001013 | Eruptive xanthomas | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001433 | Hepatosplenomegaly | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001735 | Pancreatitis, acute | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0002204 | Pulmonary embolism | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002354 | Memory impairment | |
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| HP:0002574 | Episodic abdominal pain | |
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| HP:0002583 | Severe colitis | |
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| HP:0009789 | Perianal abscess | "The presence of an abscess located around the anus." [HPO:curators] |
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| HP:0010980 | Hyperlipoproteinemia | "An abnormal increase in the level of `lipoprotein cholesterol` (CHEBI:50404) in the `blood` (FMA:9670)." [HPO:probinson] |
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| HP:0012238 | Hyperchylomicronemia | "Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins." [HPO:probinson, MP:0009699] |
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| HP:0100027 | Recurrent pancreatitis | "A `recurrent` (PATO:0000427) form of `pancreatitis` (HP:0001733)." [HPO:probinson] |
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| HP:0100851 | Abnormal emotion/affect behaviour | "An abnormality of emotional behaviour." [HPO:sdoelken] |
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