Search Ontology:
Human Disease
transient infantile liver failure
- Term ID
- DOID:0080778
- Synonyms
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- 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
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- GARD:10593
- MIM:613070
- ORDO:217371
- Ontology
- Human Disease ( DOID:0080778 )
- is a type of
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