| Metadata | |
|---|---|
| ID | DOID:0080094 |
| Name | myofibrillar myopathy 3 |
| Definition | A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. https://pubmed.ncbi.nlm.nih.gov/10958653/, https://pubmed.ncbi.nlm.nih.gov/30055862/, https://pubmed.ncbi.nlm.nih.gov/16380616/ |
| Xrefs | |
| Alternateids |
DOID:0080091 DOID:0110300 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant limb-girdle muscular dystrophy type 1A [EXACT] LGMD 1A [EXACT] LGMD1A [EXACT] myotilinopathy [EXACT] spheroid body myopathy [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |