loading...| Preferred Name |
MYOPATHY, CENTRONUCLEAR, 1 |
| Synonyms |
CNM1 |
| ID |
http://purl.bioontology.org/ontology/OMIM/160150 |
| altLabel |
CNM1 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT |
| cui |
C4551952 C1834558 |
| Gene Locus |
3p25.3 |
| Gene Symbol |
C3orf29 HJUMPY MTMR14 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU021643 http://purl.bioontology.org/ontology/OMIM/MTHU041365 http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU020624 http://purl.bioontology.org/ontology/OMIM/MTHU002170 http://purl.bioontology.org/ontology/OMIM/MTHU041367 http://purl.bioontology.org/ontology/OMIM/MTHU000990 http://purl.bioontology.org/ontology/OMIM/MTHU001543 http://purl.bioontology.org/ontology/OMIM/MTHU020625 http://purl.bioontology.org/ontology/OMIM/MTHU041366 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
614408 |
| notation |
160150 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
MYOPATHY, CENTRONUCLEAR, 1 |
| Scope Statement |
Slowly progressive [MISCELLANEOUS] Variable age of onset (range early childhood to adult) [MISCELLANEOUS] Caused by mutation in the dynamin-2 gene (DNM2, 602378.0004). [MOLECULAR BASIS] |
| tui |
T047 |