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Summary Literature (0)
DOID:0110636 - congenital merosin-deficient muscular dystrophy 1A


Disease Ontology Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.

Synonyms: CMD1A, MDC1A, Merosin-negative congenital muscular dystrophy, congenital muscular dystrophy due to laminin alpha2 deficiency

Xenbase Genes : lama2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011925 - congenital merosin-deficient muscular dystrophy 1A

OMIM:
OMIM:607855 - MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A

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

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