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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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G DAG1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550
JBrowse link
G LOC610636 tubulin alpha-1B chain 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 chr37:25,811,491...25,818,838 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 chr25:15,207,959...15,297,483
Ensembl chr25:15,207,839...15,296,078
JBrowse link
G SGCA sarcoglycan alpha treatment ISO 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
RGD
ClinVar
PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 More... RGD:13605612 NCBI chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864
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 chr25:15,300,303...15,429,555
Ensembl chr25:15,249,622...15,430,044
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      respiratory system disease 3389
        Respiration Disorders 460
          autosomal recessive limb-girdle muscular dystrophy type 2D 6
Path 2
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      nervous system disease 13186
        peripheral nervous system disease 4019
          neuropathy 3824
            neuromuscular disease 3006
              muscular disease 2117
                muscle tissue disease 1276
                  myopathy 988
                    muscular dystrophy 585
                      limb-girdle muscular dystrophy 190
                        autosomal recessive limb-girdle muscular dystrophy 110
                          autosomal recessive limb-girdle muscular dystrophy type 2D 6
paths to the root