Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4
Disease ID: disease_node_18051
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| Dbxref | MIM:617070, ORDO:329314 |
|---|---|
| Subclassof | DOID_12558, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PEOB4, adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency, adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency, autosomal recessive progressive external ophthalmoplegia 4 |
| Doid Label | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 |
| Doid Description | A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18051 |
| Doid Id | DOID_0111516 |
| Label | Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4 |
- 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)