loading...| Preferred Name |
Ophthalmoplegia, Chronic Progressive External |
| Synonyms |
Graefe Disease |
| 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 Dystrophy, Ocular Muscular Ocular Myopathy, Mitochondrial Mitochondrial Ocular Myopathy Ophthalmoplegia, Progressive External Ocular Muscular Dystrophy Ocular Myopathy of Von Graefe-Fuchs Graefe's Disease Disease, Graefe Ocular Muscular Dystrophies Muscular Dystrophy, Ocular Ocular Myopathy of Von Graefe Fuchs Muscular Dystrophies, Ocular External Ophthalmoplegia, Progressive Myopathy, Mitochondrial Ocular Chronic Progressive External Ophthalmoplegia Progressive External Ophthalmoplegia CPEO |
| 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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Machine permutation |
93 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C566437 http://purl.bioontology.org/ontology/MESH/C563747 |
| MDA |
19920522 |
| MMR |
20210312 |
| MN |
C05.651.460.700 C11.590.472.250 C10.292.562.750.250 C10.668.491.500.700 C23.888.592.636.447.511 C10.597.622.447.511 C18.452.660.560.700 C23.550.291.500.688 |
| notation |
D017246 |
| prefLabel |
Ophthalmoplegia, Chronic Progressive External |
| TERMUI |
T370634 T370629 T370633 T370631 T051413 T051414 T370632 T842328 T370630 T370635 |
| TH |
NLM (1993) NLM (2000) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D002908 |