loading...| Preferred Name |
MYOPATHY, MYOFIBRILLAR, 1 |
| Synonyms |
INCLUSION BODY MYOPATHY 1, AUTOSOMAL DOMINANT, FORMERLY |
| ID |
http://purl.bioontology.org/ontology/OMIM/601419 |
| altLabel |
INCLUSION BODY MYOPATHY 1, AUTOSOMAL DOMINANT, FORMERLY IBM1, FORMERLY MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7, FORMERLY DESMINOPATHY, PRIMARY CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT AND MUSCULAR DYSTROPHY ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 7, FORMERLY MFM1 CMD1F AND LGMD1D, FORMERLY ARVD7, FORMERLY ARVC7, FORMERLY CARDIOMYOPATHY, DILATED, 1F AND LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D, FORMERLY DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY CDCD3, FORMERLY DRM DESMIN-RELATED MYOPATHY MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY |
| cui |
C1832370 |
| Gene Locus |
2q35 |
| Gene Symbol |
ARVC7 MFM1 LGMD2R ARVD7 DES CMD1I SCPNK |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036957 http://purl.bioontology.org/ontology/OMIM/MTHU005871 http://purl.bioontology.org/ontology/OMIM/MTHU029173 http://purl.bioontology.org/ontology/OMIM/MTHU000788 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU022537 http://purl.bioontology.org/ontology/OMIM/MTHU006031 http://purl.bioontology.org/ontology/OMIM/MTHU022535 http://purl.bioontology.org/ontology/OMIM/MTHU006035 http://purl.bioontology.org/ontology/OMIM/MTHU042518 http://purl.bioontology.org/ontology/OMIM/MTHU042085 http://purl.bioontology.org/ontology/OMIM/MTHU001833 http://purl.bioontology.org/ontology/OMIM/MTHU000988 http://purl.bioontology.org/ontology/OMIM/MTHU006029 http://purl.bioontology.org/ontology/OMIM/MTHU001654 http://purl.bioontology.org/ontology/OMIM/MTHU022533 http://purl.bioontology.org/ontology/OMIM/MTHU006032 http://purl.bioontology.org/ontology/OMIM/MTHU001652 http://purl.bioontology.org/ontology/OMIM/MTHU006030 http://purl.bioontology.org/ontology/OMIM/MTHU042519 http://purl.bioontology.org/ontology/OMIM/MTHU022536 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
602067 147420 609160 |
| notation |
601419 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
MYOPATHY, MYOFIBRILLAR, 1 |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C563319 | Medical Subject Headings | CUI |