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Metadata
ID DOID:0111220
Name centronuclear myopathy 2
Definition An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3.
https://www.ncbi.nlm.nih.gov/pubmed/17676042
Xrefs

MESH:C562934

OMIM:255200

SNOMEDCT_US_2023_03_01:240081004

UMLS_CUI:C0410204

Synonyms

CNM2 [EXACT]

Parent Relationships

is_a autosomal recessive centronuclear myopathy

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