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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: Congenital muscular dystrophy due to integrin alpha-7 deficiency ClinVar PMID:25741868 NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
JBrowse link
G Itga7 integrin subunit alpha 7 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related | ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency OMIM
ClinVar
RGD
PMID:9536098 PMID:9590299 PMID:12057917 PMID:16199547 PMID:17576681 More... RGD:13601979 NCBI chr 7:1,360,125...1,388,886
Ensembl chr 7:1,359,940...1,388,450
JBrowse link
G Mettl7b methyltransferase like 7B ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency ClinVar PMID:28492532 NCBI chr 7:1,388,876...1,391,526
Ensembl chr 7:1,388,879...1,391,526
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital muscular dystrophy 116
        congenital muscular dystrophy due to integrin alpha-7 deficiency 3
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              muscular disease 1417
                muscle tissue disease 934
                  atrophic muscular disease 419
                    muscular dystrophy 417
                      congenital muscular dystrophy 116
                        congenital muscular dystrophy due to integrin alpha-7 deficiency 3
paths to the root