FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term transient infantile liver failure ID (Ontology) DOID:0080778 (Human Disease)
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.
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 Genes
 transient infantile liver failure       1
 for disease ribbon | transient infantile liver failure       1
 model of | transient infantile liver failure       1
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autosomal genetic disease
 |__autosomal recessive disease__
hepatobiliary disease            |
 |__liver disease________________|
                                 transient infantile liver failure  1 rec.
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Is a autosomal recessive disease
liver disease
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GARD:10593
MIM:613070
ORDO:217371