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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 ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C7
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7
ClinVar
OMIM
PMID:22522421 PMID:23288328 PMID:23390185 PMID:25741868 NCBI chr12:36,380,575...36,689,503
Ensembl chr12:36,381,450...36,689,503
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14265
    Developmental Disease 10434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8723
        genetic disease 8269
          monogenic disease 6318
            autosomal genetic disease 5479
              autosomal recessive disease 3230
                autosomal recessive limb-girdle muscular dystrophy 107
                  autosomal recessive limb-girdle muscular dystrophy type 2U 1
Path 2
Term Annotations click to browse term
  disease 14265
    disease of anatomical entity 13871
      nervous system disease 11380
        peripheral nervous system disease 2421
          neuropathy 2245
            neuromuscular disease 1799
              muscular disease 1205
                muscle tissue disease 828
                  myopathy 664
                    muscular dystrophy 308
                      limb-girdle muscular dystrophy 148
                        autosomal recessive limb-girdle muscular dystrophy 107
                          autosomal recessive limb-girdle muscular dystrophy type 2U 1
paths to the root