| Metadata | |
|---|---|
| ID | DOID:0050663 |
| Name | Bethlem myopathy |
| Definition | A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly. https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy |
| Xrefs |
SNOMEDCT_US_2025_09_01:718572004 |
| SKOS |
exactMatch MIM:PS158810 narrowMatch ORDO:610 narrowMatch UMLS_CUI:C1834674 |
| Subsets |
DO_rare_slim |
| Synonyms |
benign congenital muscular dystrophy [EXACT] |
| Parent Relationships |