OntologiesdoidclassesDOID:0110634   
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congenital muscular dystrophy 1B
http://purl.obolibrary.org/obo/DOID_0110634

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.

Exact Synonyms
CMD1B
congenital muscular dystrophy type 1B
MDC1B