Autosomal Domit Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 6
Disease ID: disease_node_18048
Connections displayed (default: 10).
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| Dbxref | MIM:615156, ORDO:352470 |
|---|---|
| Subclassof | DOID_0050736, DOID_12558 |
| Data Source | DOID |
| Synonyms | DNA2-related mitochondrial DNA deletion syndrome, PEOA6, autosomal dominant progressive external ophthalmoplegia 6, mitochondrial DNA deletion syndrome with limb-girdle weakness, mitochondrial DNA deletion syndrome with progressive myopathy, mtDNA deletion syndrome with limb-girdle weakness, mtDNA deletion syndrome with progressive myopathy |
| Doid Label | autosomal domit progressive external ophthalmoplegia with mitochondrial DNA deletions 6 |
| Doid Description | A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18048 |
| Doid Id | DOID_0111519 |
| Label | Autosomal Domit Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 6 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ophthalmoplegia, Chronic Progressive External(ID:disease_node_9124) (Disease)