Mitochondrial Dna Depletion Syndrome 17
Disease ID: disease_node_16829
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618567 |
|---|---|
| Subclassof | DOID_0050737, DOID_0070329 |
| Data Source | DOID |
| Doid Label | mitochondrial DNA depletion syndrome 17 |
| Doid Description | A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16829 |
| Doid Id | DOID_0070448 |
| Label | Mitochondrial Dna Depletion Syndrome 17 |
- 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)