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RGD DISEASE ONTOLOGY - ANNOTATIONS

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
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Accession:DOID:0110639 term browser browse the term
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. (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
 primary_id: MESH:C567709
 alt_id: OMIM:613204;   RDO:0015704
 xref: ORDO:34520
For additional species annotation, visit the Alliance of Genome Resources.

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congenital muscular dystrophy due to integrin alpha-7 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency ClinVar PMID:25741868 NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220 		JBrowse link
G ITGA7 integrin subunit alpha 7 ISO OMIM NCBI chr12:33,195,602...33,226,796
Ensembl chr12:33,923,549...33,950,886 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12821
    physical disorder 2378
      congenital muscular dystrophy 70
        congenital muscular dystrophy due to integrin alpha-7 deficiency 2
Path 2
Term Annotations click to browse term
  disease 12821
    disease of anatomical entity 12353
      nervous system disease 10089
        peripheral nervous system disease 2301
          neuropathy 2140
            neuromuscular disease 1686
              muscular disease 1104
                muscle tissue disease 739
                  atrophic muscular disease 290
                    muscular dystrophy 288
                      congenital muscular dystrophy 70
                        congenital muscular dystrophy due to integrin alpha-7 deficiency 2
paths to the root