RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
CMD1A; MDC1A; congenital muscular dystrophy due to laminin alpha2 deficiency; merosin-deficient congenital muscular dystrophy; merosin-negative congenital muscular dystrophy
ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin-deficient 1A ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related ClinVar Annotator: match by OMIM:607855