About   Help   FAQ
Disease Ontology Browser
congenital merosin-deficient muscular dystrophy 1A (DOID:0110636)
Alliance: disease page
Synonyms: CMD1A; congenital muscular dystrophy due to laminin alpha2 deficiency; MDC1A; Merosin-negative congenital muscular dystrophy
Alt IDs: OMIM:607855, MESH:C537384, NCI:C118783, ORDO:258, UMLS_CUI:C1263858
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.

Disease References using Mouse Models (18)

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
01/31/2023
MGI 6.22
The Jackson Laboratory