Mitochondrial Dna Depletion Syndrome 16
Disease ID: disease_node_16831
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| Dbxref | MIM:618528 |
|---|---|
| Subclassof | DOID_0070329, DOID_0050737 |
| Data Source | DOID |
| Synonyms | mitochondrial DNA depletion syndrome 16 (hepatic type) |
| Doid Label | mitochondrial DNA depletion syndrome 16 |
| Doid Description | A mitochondrial DNA depletion syndrome characterized by infantile onset of fulmit hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16831 |
| Doid Id | DOID_0070446 |
| Label | Mitochondrial Dna Depletion Syndrome 16 |
- Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Dna Depletion Syndrome(ID:disease_node_16818) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)