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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 chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13605
    Developmental Disease 10021
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8345
        genetic disease 7901
          monogenic disease 6091
            autosomal genetic disease 5280
              autosomal recessive disease 3100
                autosomal recessive limb-girdle muscular dystrophy 102
                  autosomal recessive limb-girdle muscular dystrophy type 2U 1
Path 2
Term Annotations click to browse term
  disease 13605
    disease of anatomical entity 13266
      nervous system disease 10957
        peripheral nervous system disease 2289
          neuropathy 2125
            neuromuscular disease 1696
              muscular disease 1121
                muscle tissue disease 757
                  myopathy 596
                    muscular dystrophy 290
                      limb-girdle muscular dystrophy 140
                        autosomal recessive limb-girdle muscular dystrophy 102
                          autosomal recessive limb-girdle muscular dystrophy type 2U 1
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