| 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] |
Show
|
| HP:0001259 | Coma | |
Show
|
| HP:0001289 | Confusion | "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] |
Show
|
| HP:0001394 | Cirrhosis | |
Show
|
| HP:0001397 | Hepatic steatosis | |
Show
|
| HP:0001402 | Hepatocellular carcinoma | |
Show
|
| HP:0001406 | Intrahepatic cholestasis | |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001510 | Growth retardation | |
Show
|
| HP:0001733 | Pancreatitis | |
Show
|
| HP:0001987 | Hyperammonemia | |
Show
|
| HP:0002155 | Hypertriglyceridemia | |
Show
|
| HP:0002181 | Cerebral edema | "Abnormal accumulation of fluid in the brain." [HPO:curators] |
Show
|
| HP:0002904 | Hyperbilirubinemia | |
Show
|
| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
Show
|
| HP:0003124 | Hypercholesterolemia | |
Show
|
| HP:0003233 | Decreased HDL cholesterol | |
Show
|
| HP:0003235 | Hypermethioninemia | |
Show
|
| HP:0011966 | Elevated plasma citrulline | "An increased concentration of `citrulline` (CHEBI:18211) in the `blood` (FMA:9670)." [HPO:probinson] |
Show
|
