progressive external ophthalmoplegia
Go to external page http://purl.obolibrary.org/obo/MONDO_0005181
A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422) [ MESH:D017246 ]
Synonyms: chronic progressive external ophthalmoplegia [ambiguous] progressive external ophthalmoplegia
Term information
- HP:0000590 (MONDO:otherHierarchy)
- ICD9:378.72 (EFO:0002509)
- UMLS:C0162674 (MONDO:equivalentTo)
- MEDGEN:102439 (MONDO:equivalentTo)
- Orphanet:520820 (MONDO:equivalentTo)
- DOID:12558 (MONDO:equivalentTo)
- ICD10CM:H49.4 (MONDO:equivalentTo)
- icd11.foundation:1698427219 (Orphanet:520820)
- EFO:0002509 (MONDO:equivalentTo)
- NANDO:1200174 (https://orcid.org/0000-0003-0011-764X)
- MESH:D017246 (MONDO:equivalentTo)
- GARD:4503 (MONDO:GARD)
- SCTID:46252003 (MONDO:equivalentTo)
gard_rare, otar, disease_grouping, rare, ordo_group_of_disorders
http://identifiers.org/medgen/102439
http://www.orpha.net/ORDO/Orphanet_520820
http://identifiers.org/mesh/D017246
http://identifiers.org/snomedct/46252003
http://purl.bioontology.org/ontology/ICD10CM/H49.4
http://purl.obolibrary.org/obo/DOID_12558
http://linkedlifedata.com/resource/umls/id/C0162674