Disease association ontology term - MONDO:1060212 - CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder
Term summary
- ID
- MONDO:1060212
- Name
- CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder
- Ontology or CV name
- Disease association
- Definition
- A syndromic disease caused by a variation in the CRYAB gene, and characterized by a spectrum of phenotypes including cardiomyopathy, cataract, and/or myopathy.
