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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 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
JBrowse link
G Itga7 integrin subunit alpha 7 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
ClinVar Annotator: match by OMIM:613204
ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related
OMIM
ClinVar
PMID:9590299, PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27854218, PMID:28492532, PMID:9354797 RGD:13601979 NCBI chr 7:3,355,079...3,383,886
Ensembl chr 7:3,355,116...3,384,675
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          congenital muscular dystrophy 69
            congenital muscular dystrophy due to integrin alpha-7 deficiency 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  atrophic muscular disease 328
                    muscular dystrophy 326
                      congenital muscular dystrophy 69
                        congenital muscular dystrophy due to integrin alpha-7 deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.