Search Ontology:
Human Disease
myofibrillar myopathy 3
- Term ID
- DOID:0080094
- Synonyms
-
- autosomal dominant limb-girdle muscular dystrophy type 1A
- LGMD 1A
- LGMD1A
- myotilinopathy
- spheroid body myopathy
- Definition
- A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. (3)
- References
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- GARD:10229
- GARD:8711
- ICD10CM:G71.0
- MESH:C000598645
- MESH:C535906
- MIM:609200
- ORDO:266
- ORDO:268129
- Ontology
- Human Disease ( DOID:0080094 )
- is a type of
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Genes Involved
Zebrafish Models