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Disease Ontology Browser
congenital muscular dystrophy 1B (DOID:0110634)
Alliance: disease page
Synonyms: CMD1B; congenital muscular dystrophy type 1B; MDC1B
Alt IDs: OMIM:604801, ICD10CM:G71.2, ORDO:98893
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory