OBO ID: DOID:0080778
Term Name: transient infantile liver failure Search Ontology:
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. (4)
References:
Ontology: Human Disease   (DOID:0080778)
OTHER transient infantile liver failure PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRMU Liver failure, transient infantile 613070
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None