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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 6:52,627,466...52,639,255
Ensembl chr 6:52,627,482...52,639,255
JBrowse link
G STRN4 striatin 4 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED ClinVar PMID:25741868 NCBI chr 6:52,601,934...52,627,910
Ensembl chr 6:52,601,934...52,627,902
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    Developmental Diseases 8989
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7861
        genetic disease 7410
          monogenic disease 5450
            autosomal genetic disease 4651
              autosomal recessive disease 2546
                autosomal recessive limb-girdle muscular dystrophy 100
                  autosomal recessive limb-girdle muscular dystrophy type 2I 2
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9972
        peripheral nervous system disease 2315
          neuropathy 2154
            neuromuscular disease 1698
              muscular disease 1116
                muscle tissue disease 750
                  myopathy 604
                    muscular dystrophy 291
                      limb-girdle muscular dystrophy 140
                        autosomal recessive limb-girdle muscular dystrophy 100
                          autosomal recessive limb-girdle muscular dystrophy type 2I 2
paths to the root