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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://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045200/, https://pubmed.ncbi.nlm.nih.gov/19732863/, https://pubmed.ncbi.nlm.nih.gov/27689697/, https://pubmed.ncbi.nlm.nih.gov/21931168/
Xrefs	GARD:10593 MIM:613070 ORDO:217371
Subsets	DO_rare_slim
Parent Relationships	is_a liver disease is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance