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loading...| Preferred Name |
Minicore Myopathy with External Ophthalmoplegia |
| Synonyms |
Multicore Myopathy |
| ID |
http://purl.bioontology.org/ontology/MESH/C564969 |
| altLabel |
Multicore Myopathy Multicore Disease Multi-Minicore Disease Multiminicore Disease Multicore Myopathy With External Ophthalmoplegia Minicore Disease Multiminicore Disease With External Ophthalmoplegia Multiminicore Myopathy Minicore Myopathy |
| cui |
C1850674 |
| Has mapping qualifier | |
| HM |
D019837/Q000172 D009886 D020914 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D019837 |
| MDA |
20121105 |
| MeSH Frequency |
6 |
| MMR |
20131024 |
| notation |
C564969 |
| prefLabel |
Minicore Myopathy with External Ophthalmoplegia |
| SC |
3 |
| Scope Statement |
associated with mutations in RYR1 |
| TERMUI |
T805929 T842068 T805930 T826691 T842069 T842070 T810752 T842067 T805931 T811269 |
| TH |
OMIM (2013) GHR (2014) |
| tui |
T047 |
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