loading...| Preferred Name |
Ophthalmoplegia, Chronic Progressive External |
|
| Synonyms |
Graefe Disease Graefe's Disease Ocular Myopathy of Von Graefe-Fuchs External Ophthalmoplegia, Progressive Muscular Dystrophy, Ocular Disease, Graefe Mitochondrial Ocular Myopathy CPEO Chronic Progressive External Ophthalmoplegia Ocular Myopathy, Mitochondrial Ocular Muscular Dystrophies Ophthalmoplegia, Progressive External Progressive External Ophthalmoplegia Dystrophy, Ocular Muscular Muscular Dystrophies, Ocular Ocular Myopathy of Von Graefe Fuchs Myopathy, Mitochondrial Ocular Ocular Muscular Dystrophy |
|
| Definitions |
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) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D017246 |
|
| altLabel |
Graefe Disease Graefe's Disease Ocular Myopathy of Von Graefe-Fuchs External Ophthalmoplegia, Progressive Muscular Dystrophy, Ocular Disease, Graefe Mitochondrial Ocular Myopathy CPEO Chronic Progressive External Ophthalmoplegia Ocular Myopathy, Mitochondrial Ocular Muscular Dystrophies Ophthalmoplegia, Progressive External Progressive External Ophthalmoplegia Dystrophy, Ocular Muscular Muscular Dystrophies, Ocular Ocular Myopathy of Von Graefe Fuchs Myopathy, Mitochondrial Ocular Ocular Muscular Dystrophy |
|
| AN |
chronic progressive external ophthalmoplegia with cardiomyopathy & retinitis pigmentosa = KEARNS-SAYRE SYNDROME |
|
| AQL |
BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0162674 |
|
| DC |
1 |
|
| 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) |
|
| DX |
19930101 |
|
| HN |
93 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
93 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C566437 http://purl.bioontology.org/ontology/MESH/C563747 |
|
| MDA |
19920522 |
|
| MMR |
20210312 |
|
| MN |
C23.888.592.636.447.511 C10.292.562.750.250 C18.452.660.560.700 C05.651.460.700 C23.550.291.500.688 C11.590.472.250 C10.668.491.500.700 C10.597.622.447.511 |
|
| notation |
D017246 |
|
| prefLabel |
Ophthalmoplegia, Chronic Progressive External |
|
| TERMUI |
T370631 T370633 T370632 T370629 T370634 T051414 T051413 T370635 T842328 T370630 |
|
| TH |
NLM (2000) NLM (1993) GHR (2014) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D002908 |