Alpha-B crystallinopathy

Preferred Label : Alpha-B crystallinopathy;

MeSH note : mutation in CRYAB;

MeSH synonym : myopathy, myofibrillar, Alpha-B Crystallin-Related; myopathy, cardioskeletal, Desmin-Related, with cataract; myopathy, Desmin-Related, associated with mutation in the CRYAB gene;

Details

Origin ID

C563848;

UMLS CUI

C1837317;

Automatic exact mappings (from CISMeF team)
- Fatal infantile hypertonic myofibrillar myopathy [ORDO Disease]
- Myopathy, myofibrillar, 2 [OMIM Phenotype]
- myofibrillar myopathy 2 [DO Concept]
MeSH term(s) associated for indexing
- cardiomyopathies [MeSH Descriptor]
- cataract [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
Record concept(s)
- Alpha-B crystallinopathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myopathy, myofibrillar, 2 [OMIM Phenotype]
- myofibrillar myopathy 2 [DO Concept]

Keyword's position in hierarchy(ies) :

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