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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://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

GARD:10593

OMIM:613070

ORDO:217371

Parent Relationships

is_a liver disease

is_a autosomal recessive disease

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