Mitochondrial Dna Depletion Syndrome 18
Disease ID: disease_node_16828
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| Dbxref | MIM:618811 |
|---|---|
| Subclassof | DOID_0050737, DOID_0070329 |
| Data Source | DOID |
| Doid Label | mitochondrial DNA depletion syndrome 18 |
| Doid Description | A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16828 |
| Doid Id | DOID_0070449 |
| Label | Mitochondrial Dna Depletion Syndrome 18 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Dna Depletion Syndrome(ID:disease_node_16818) (Disease)