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Echinobase
Summary Literature (0)
DOID:0110634 - congenital muscular dystrophy 1B

Disease Ontology 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.

Synonyms: CMD1B, MDC1B, congenital muscular dystrophy type 1B,

Echinobase Genes :



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): congenital muscular dystrophy (is_a)