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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;   LGMDD1;   autosomal dominant limb-girdle muscular dystrophy 1;   autosomal dominant limb-girdle muscular dystrophy type 1E;   muscular dystrophy limb-girdle type 1D;   muscular dystrophy limb-girdle type 1E
 primary_id: OMIM:603511
 alt_id: MESH:C566370;   MESH:C566589
 xref: ORDO:34517


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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 term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8533766 PMID:9536098 PMID:9973293 PMID:10489050 PMID:17576681 More... NCBI chr 4:5,452,683...5,556,679
Ensembl chr 4:5,452,683...5,556,659 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                autosomal dominant limb-girdle muscular dystrophy 14
                  autosomal dominant limb-girdle muscular dystrophy type 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myopathy 1004
                    muscular dystrophy 597
                      limb-girdle muscular dystrophy 198
                        autosomal dominant limb-girdle muscular dystrophy 14
                          autosomal dominant limb-girdle muscular dystrophy type 1 1
paths to the root