Transient Infantile Liver Failure
Disease ID: disease_node_20515
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:10593, MIM:613070, ORDO:217371 |
|---|---|
| Subclassof | DOID_409, DOID_0050737 |
| Data Source | DOID |
| Doid Label | transient infantile liver failure |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20515 |
| Doid Id | DOID_0080778 |
| Label | Transient Infantile Liver Failure |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Liver Diseases(ID:disease_node_4822) (Disease)