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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 chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5728
            autosomal genetic disease 4877
              autosomal recessive disease 2677
                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 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  myopathy 643
                    muscular dystrophy 312
                      limb-girdle muscular dystrophy 144
                        autosomal recessive limb-girdle muscular dystrophy 103
                          autosomal recessive limb-girdle muscular dystrophy type 2U 1
paths to the root