Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 5
Disease ID: disease_node_18043
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| Dbxref | MIM:618098 |
|---|---|
| Subclassof | DOID_12558, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PEOB5, autosomal recessive progressive external ophthalmoplegia 5 |
| Doid Label | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 |
| Doid Description | A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18043 |
| Doid Id | DOID_0111524 |
| Label | Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ophthalmoplegia, Chronic Progressive External(ID:disease_node_9124) (Disease)