Autosomal Domit Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 3
Disease ID: disease_node_18047
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| Dbxref | MIM:609286 |
|---|---|
| Subclassof | DOID_0050736, DOID_12558 |
| Data Source | DOID |
| Synonyms | PEOA3, autosomal dominant progressive external ophthalmoplegia 3 |
| Doid Label | autosomal domit progressive external ophthalmoplegia with mitochondrial DNA deletions 3 |
| Doid Description | A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18047 |
| Doid Id | DOID_0111520 |
| Label | Autosomal Domit Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Ophthalmoplegia, Chronic Progressive External(ID:disease_node_9124) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)