congenital merosin-deficient muscular dystrophy 1A

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lama2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011925 - preganglionic autonomic fiber

MONDO:0011925 - preganglionic autonomic fiber

MIM:

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

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

Other Model Organisms: Alliance, 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)