Search Ontology:
Human Disease
myofibrillar myopathy 2
- Term ID
- DOID:0080093
- Synonyms
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- alpha-b crystallinopathy
- Definition
- A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. https://pubmed.ncbi.nlm.nih.gov/14681890/
- References
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- MIM:608810
- ORDO:399058
- Ontology
- Human Disease ( DOID:0080093 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models