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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
 xref: MESH:D058088;   MIM:608099;   MONDO:0011968;   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 chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Dag1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325
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 chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335
JBrowse link
G Sgca sarcoglycan, alpha treatment ISO
ISS
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:608099
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 More... RGD:13605612 NCBI chr10:80,397,158...80,416,165
Ensembl chr10:79,908,738...79,922,813
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 chr15:39,564,920...39,611,149
Ensembl chr15:35,386,534...35,435,148
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D ClinVar PMID:17584854 PMID:18414213 PMID:18728072 PMID:20466733 PMID:25741868 More... NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:130,081,032...130,196,186
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      respiratory system disease 5246
        Respiration Disorders 484
          autosomal recessive limb-girdle muscular dystrophy type 2D 6
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        peripheral nervous system disease 4383
          neuropathy 4171
            neuromuscular disease 3219
              muscular disease 2226
                muscle tissue disease 1354
                  atrophic muscular disease 676
                    Brody myopathy 672
                      muscular dystrophy 656
                        limb-girdle muscular dystrophy 236
                          autosomal recessive limb-girdle muscular dystrophy 148
                            autosomal recessive limb-girdle muscular dystrophy type 2D 6
paths to the root