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Metadata
ID	DOID:0110634
Name	congenital muscular dystrophy 1B
Definition	A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. https://www.ncbi.nlm.nih.gov/pubmed/10677302
Xrefs	ICD10CM:G71.2 OMIM:604801 ORDO:98893
Subsets	DO_rare_slim
Synonyms	CMD1B [EXACT] congenital muscular dystrophy type 1B [EXACT] MDC1B [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital muscular dystrophy