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 |
SNOMEDCT_US_2023_03_01:240081004 |
Synonyms |
CNM2 [EXACT] |
Parent Relationships |