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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 dominant limb-girdle muscular dystrophy type 1
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Accession:DOID:0110305 term browser browse the term
Definition:An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. (DO)
Synonyms:exact_synonym: LGMD1D;   LGMD1E;   autosomal dominant limb-girdle muscular dystrophy type 1E;   muscular dystrophy limb-girdle type 1D;   muscular dystrophy limb-girdle type 1E
 primary_id: MESH:C566370;   MESH:C566589
 alt_id: OMIM:603511;   RDO:0014744;   RDO:0014903
 xref: ORDO:34517
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by OMIM:603511
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1E
OMIM
ClinVar
PMID:9536098 PMID:9973293 PMID:10489050 PMID:17576681 PMID:20682716 PMID:21376592 PMID:22334415 PMID:22366786 PMID:24033266 PMID:24594375 PMID:24920671 PMID:25741868 PMID:26205529 PMID:26371419 PMID:26467025 PMID:26847086 PMID:27642634 PMID:27671536 PMID:28166811 PMID:28233300 PMID:28422763 PMID:28492532 PMID:28794355 PMID:29970176 PMID:30564623 NCBI chr 4:2,711,329...2,774,969
Ensembl chr 4:2,711,385...2,774,890
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                autosomal dominant limb-girdle muscular dystrophy 8
                  autosomal dominant limb-girdle muscular dystrophy type 1 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              muscular disease 1186
                muscle tissue disease 809
                  myopathy 645
                    muscular dystrophy 314
                      limb-girdle muscular dystrophy 147
                        autosomal dominant limb-girdle muscular dystrophy 8
                          autosomal dominant limb-girdle muscular dystrophy type 1 1
paths to the root