Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital muscular dystrophy due to integrin alpha-7 deficiency
Summary
- Synonym
-
- congenital muscular dystrophy with ITGA7 deficiency
- congenital muscular dystrophy with integrin alpha-7 deficiency
- congenital myopathy due to integrin alpha-7 deficiency
- Definition
- A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.
- Super Class
- autosomal recessive disease congenital muscular dystrophy
External Links
- Disease Ontology
- DOID:0110639
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
