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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 2D
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Accession:DOID:0110278 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 alpha-sarcoglycan gene (SGCA) on chromosome 17q. (DO)
Synonyms:exact_synonym: DMDA2;   Duchenne-like autosomal recessive muscular dystrophy type 2;   LGMD2D;   LGMDR3;   adhalinopathies;   alpha-sarcoglycanopathies;   alpha-sarcoglycanopathy;   limb girdle muscular dystrophy with alpha sarcoglycan deficiency;   limb girdle muscular dystrophy, type 2D;   limb-girdle muscular dystrophy, autosomal recessive 3;   primary adhalinopathies;   primary adhalinopathy;   sarcoglycanopathies;   sarcoglycanopathy
 primary_id: MESH:D058088
 alt_id: OMIM:608099
 xref: NCI:C142081;   ORDO:62


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autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D ClinVar PMID:25106685 PMID:28492532 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		JBrowse link
G DAG1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
G SACS sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553 		JBrowse link
G SGCA sarcoglycan alpha treatment ISO ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY | ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Sarcoglycanopathy OMIM
ClinVar
RGD		 PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 More... RGD:13605612 NCBI chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188 		JBrowse link
G SGCG sarcoglycan gamma ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:4,471,680...4,638,419
Ensembl chr13:22,810,771...22,932,350 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      respiratory system disease 3351
        Respiration Disorders 451
          autosomal recessive limb-girdle muscular dystrophy type 2D 5
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 2D 5
paths to the root