Mitochondrial Dna Depletion Syndrome 16B
Disease ID: disease_node_16830
Connections displayed (default: 10).
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| Dbxref | MIM:619425 |
|---|---|
| Subclassof | DOID_0070329, DOID_0050737 |
| Data Source | DOID |
| Synonyms | mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) |
| Doid Label | mitochondrial DNA depletion syndrome 16B |
| Doid Description | A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16830 |
| Doid Id | DOID_0070447 |
| Label | Mitochondrial Dna Depletion Syndrome 16B |
- 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)