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ONTOLOGY REPORT - ANNOTATIONS


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
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congenital muscular dystrophy due to integrin alpha-7 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:8554872
G Itga7 integrin subunit alpha 7 JBrowse link 7 3,355,079 3,383,886 RGD:7240710
RGD:8554872
RGD:13601979

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          congenital muscular dystrophy 50
            congenital muscular dystrophy due to integrin alpha-7 deficiency 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  myopathy 549
                    muscular dystrophy 277
                      congenital muscular dystrophy 50
                        congenital muscular dystrophy due to integrin alpha-7 deficiency 2
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