| Metadata | |
|---|---|
| ID | DOID:0111225 |
| Name | centronuclear myopathy X-linked |
| Definition | A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. https://www.ncbi.nlm.nih.gov/pubmed/8640223 |
| Xrefs |
SNOMEDCT_US_2023_03_01:46804001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CNMX [EXACT] MTM1 [EXACT] myotubular myopathy 1 [EXACT] X-linked myotubular myopathy [EXACT] XLCNM [EXACT] XLMTM [EXACT] |
| Parent Relationships |