Term Name: | transient infantile liver failure |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080778] ( DOID:0080778 ) |