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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM
RGD
PMID:25048216 RGD:11667961 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319
JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr 1:109,176,955...109,203,875
Ensembl chr 1:109,176,983...109,202,591
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12824
    Developmental Diseases 9073
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7932
        genetic disease 7475
          monogenic disease 5483
            autosomal genetic disease 4682
              autosomal recessive disease 2577
                autosomal recessive limb-girdle muscular dystrophy 101
                  autosomal recessive limb-girdle muscular dystrophy type 2I 2
Path 2
Term Annotations click to browse term
  disease 12824
    disease of anatomical entity 12357
      nervous system disease 10082
        peripheral nervous system disease 2337
          neuropathy 2172
            neuromuscular disease 1712
              muscular disease 1132
                muscle tissue disease 762
                  myopathy 617
                    muscular dystrophy 293
                      limb-girdle muscular dystrophy 141
                        autosomal recessive limb-girdle muscular dystrophy 101
                          autosomal recessive limb-girdle muscular dystrophy type 2I 2
paths to the root