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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 2C
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Accession:DOID:0110277 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. (DO)
Synonyms:exact_synonym: Adhalin deficiency, secondary;   DMDA;   DMDA1;   Duchenne-like muscular dystrophy, autosomal recessive, type 1;   LGMD2C;   Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency;   Maghrebian myopathy;   Muscular dystrophy, Duchenne-like;   SARCOGLYCAN, GAMMA, DEFICIENCY OF;   SCARMD;   SEVERE AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY OF CHILDHOOD - NORTH AFRICAN TYPE;   gamma-sarcoglycanopathy;   limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency;   muscular dystrophy, limb-girdle, type 2C;   severe childhood autosomal recessive muscular dystrophy, North African type
 primary_id: MESH:C535900
 alt_id: OMIM:253700;   RDO:0001265
 xref: ORDO:353
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by OMIM:253700
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2C
DNA:mutation:cds: c.787G>A(p.Glu263Lys) (human)
ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type
OMIM
ClinVar
PMID:1303286 PMID:7481775 PMID:8923014 PMID:8968757 PMID:9658457 PMID:9673983 PMID:9781048 PMID:10447257 PMID:10874299 PMID:10942431 PMID:12040521 PMID:12566530 PMID:14981741 PMID:15322984 PMID:15479193 PMID:16832103 PMID:18285821 PMID:18414213 PMID:18421900 PMID:19770540 PMID:20345928 PMID:20623375 PMID:22095924 PMID:22240777 PMID:23929688 PMID:24033266 PMID:24534832 PMID:24552312 PMID:25605665 PMID:25741868 PMID:25802879 PMID:26467025 PMID:27708273 PMID:28492532 PMID:32214227, PMID:25802879 RGD:13605619 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8455
        genetic disease 7972
          monogenic disease 5749
            autosomal genetic disease 4887
              autosomal recessive disease 2717
                autosomal recessive limb-girdle muscular dystrophy 105
                  autosomal recessive limb-girdle muscular dystrophy type 2C 2
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        peripheral nervous system disease 2432
          neuropathy 2246
            neuromuscular disease 1764
              muscular disease 1167
                muscle tissue disease 791
                  myopathy 644
                    muscular dystrophy 313
                      limb-girdle muscular dystrophy 146
                        autosomal recessive limb-girdle muscular dystrophy 105
                          autosomal recessive limb-girdle muscular dystrophy type 2C 2
paths to the root