| Metadata | |
|---|---|
| ID | DOID:0080778 |
| Name | transient infantile liver failure |
| Definition | A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. https://pubmed.ncbi.nlm.nih.gov/19732863/, https://pubmed.ncbi.nlm.nih.gov/21931168/, https://pubmed.ncbi.nlm.nih.gov/27689697/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045200/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a liver disease |