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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 2I
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Accession:DOID:0110299 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. (DO)
Synonyms:exact_synonym: LGMD2I;   LGMDR9;   MDDGC5;   autosomal recessive limb-girdle muscular dystrophy 9;   limb-girdle muscular dystrophy due to FKRP deficiency;   limb-girdle muscular dystrophy, type 2I;   limb-girdle muscular dystrophy-dystroglycanopathy, FRKP-related;   limb-girdle muscular dystrophy-dystroglycanopathy, type C5;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
 primary_id: MESH:C564612
 alt_id: OMIM:607155
 xref: NCI:C126739;   ORDO:34515


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autosomal recessive limb-girdle muscular dystrophy type 2I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein treatment ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED OMIM
RGD
ClinVar		 PMID:10838249 PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 More... RGD:11667961 NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341 		JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I ClinVar PMID:25741868 NCBI chr19:43,711,834...43,738,742
Ensembl chr19:52,240,880...52,260,241 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10255
            autosomal genetic disease 9441
              autosomal recessive disease 6559
                autosomal recessive limb-girdle muscular dystrophy 110
                  autosomal recessive limb-girdle muscular dystrophy type 2I 2
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        peripheral nervous system disease 4039
          neuropathy 3848
            neuromuscular disease 3026
              muscular disease 2119
                muscle tissue disease 1275
                  myopathy 987
                    muscular dystrophy 598
                      limb-girdle muscular dystrophy 196
                        autosomal recessive limb-girdle muscular dystrophy 110
                          autosomal recessive limb-girdle muscular dystrophy type 2I 2
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