transient infantile liver failure

Term ID

DOID:0080778

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

• GARD:10593
• OMIM:613070
• ORDO:217371

Ontology

Human Disease   ( DOID:0080778 )