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.
Term:
congenital muscular dystrophy due to integrin alpha-7 deficiency
A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. (DO)
Synonyms:
exact_synonym:
CONGENITAL MUSCULAR DYSTROPHY, ITGA7-RELATED; congenital muscular dystrophy due to ITGA7 deficiency; congenital muscular dystrophy with ITGA7 deficiency; congenital muscular dystrophy with integrin alpha-7 deficiency; congenital myopathy due to Integrin Alpha-7 deficiency
CTD Direct Evidence: marker/mechanism OMIM:613204 ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related | ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY | ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency