Bethlem myopathy https://github.com/monarch-initiative/mondo/issues/5658 https://www.malacards.org/card/bethlem_muscular_dystrophy https://www.malacards.org/card/bethlem_myopathy_1a Orphanet:610 MONDO:0008029 DOID:0050663 SCTID:718572004 NCIT:C126688 Editor note: consider separating type 1 form benign autosomal dominant myopathy NANDO:1200220 OMIMPS:158810 MEDGEN:331805 BTHLM1 Bethlem myopathy type 1 GARD:0000873 UMLS:C1834674 A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles. MESH:C535436 Bethlem myopathy 1 icd11.foundation:72734329 progressive muscular dystrophy congenital muscular dystrophy congenital myopathy