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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:520820 (MONDO:equivalentTo)
  • COHD:379027 (MONDO:equivalentTo)
  • SCTID:46252003 (MONDO:equivalentTo)
  • GARD:0004503 (MONDO:equivalentTo)
  • DOID:12558 (MONDO:equivalentTo)
  • ICD10:H49.4 (MONDO:equivalentTo)
  • HP:0000590 (MONDO:otherHierarchy)
  • MESH:D017246 (MONDO:equivalentTo)
  • EFO:0002509 (MONDO:equivalentTo)
  • ICD9:378.72 (EFO:0002509)
Subsets

ordo_group_of_disorders

closeMatch

http://identifiers.org/snomedct/194034008

http://identifiers.org/snomedct/194126004

http://linkedlifedata.com/resource/umls/id/C0162674

definition

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)

exactMatch

http://www.orpha.net/ORDO/Orphanet_520820

http://identifiers.org/mesh/D017246

http://identifiers.org/snomedct/46252003

http://purl.obolibrary.org/obo/DOID_12558

has exact synonym

chronic progressive external ophthalmoplegia [ambiguous]

progressive external ophthalmoplegia

has related synonym

chronic progressive external ophthalmoplegia

id

MONDO:0005181

Term relations