Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Alpha-B Crystallinopathy
Synonyms	Myopathy, Desmin-Related, associated with Mutation in the CRYAB Gene Myopathy, Myofibrillar, Alpha-B Crystallin-Related Myopathy, Cardioskeletal, Desmin-Related, with Cataract
ID	http://purl.bioontology.org/ontology/MESH/C563848
altLabel	Myopathy, Desmin-Related, associated with Mutation in the CRYAB Gene Myopathy, Myofibrillar, Alpha-B Crystallin-Related Myopathy, Cardioskeletal, Desmin-Related, with Cataract
cui	C1837317
HM	D002386 D009135 D009202
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D009202 http://purl.bioontology.org/ontology/MESH/D009135 http://purl.bioontology.org/ontology/MESH/D002386
MDA	20121105
MeSH Frequency	3
notation	C563848
prefLabel	Alpha-B Crystallinopathy
SC	3
Scope Statement	mutation in CRYAB
TERMUI	T828126 T803721 T803722 T828125
TH	OMIM (2013)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/608810	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/123590	OMIM	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C563848	RH-MESH	LOOM