Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 2
Disease ID: disease_node_18036
Connections displayed (default: 10).
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| Dbxref | MIM:616479, ORDO:329336 |
|---|---|
| Subclassof | DOID_12558, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PEOB2, adult-onset CPEO with mitochondrial myopathy, adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, autosomal recessive progressive external ophthalmoplegia 2 |
| Disease Has Feature | DOID_1307 |
| Doid Label | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 |
| Doid Description | A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18036 |
| Doid Id | DOID_0111515 |
| Label | Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 2 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ophthalmoplegia, Chronic Progressive External(ID:disease_node_9124) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)