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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:autosomal recessive limb-girdle muscular dystrophy type 2U
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Accession:DOID:0110295 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. (DO)
Synonyms:exact_synonym: LGMD2U;   MDDGC7;   autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency;   muscular dystrophy limb-girdle type 2U;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C7;   muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
 primary_id: OMIM:616052
 xref: ORDO:352479
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2U term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crppa CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chrNW_004936546:2,658,195...2,945,542 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12781
    Developmental Disease 9496
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8008
        genetic disease 7580
          monogenic disease 5845
            autosomal genetic disease 5098
              autosomal recessive disease 3040
                autosomal recessive limb-girdle muscular dystrophy 103
                  autosomal recessive limb-girdle muscular dystrophy type 2U 1
Path 2
Term Annotations click to browse term
  disease 12781
    disease of anatomical entity 12463
      nervous system disease 10328
        peripheral nervous system disease 2232
          neuropathy 2075
            neuromuscular disease 1655
              muscular disease 1097
                muscle tissue disease 745
                  myopathy 587
                    muscular dystrophy 292
                      limb-girdle muscular dystrophy 143
                        autosomal recessive limb-girdle muscular dystrophy 103
                          autosomal recessive limb-girdle muscular dystrophy type 2U 1
paths to the root