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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 3
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Accession:DOID:0110306 term browser browse the term
Definition:An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. (DO)
Synonyms:exact_synonym: LGMD1G;   autosomal dominant limb-girdle muscular dystrophy type 1G;   muscular dystrophy limb-girdle type 1G
 primary_id: MESH:C563794
 alt_id: OMIM:609115;   RDO:0012962
 xref: ORDO:55596


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autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15367920 PMID:17576681 PMID:24647604 PMID:25741868 More... NCBI chr14:9,557,430...9,563,659
Ensembl chr14:9,557,425...9,562,506 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal dominant disease 6235
                autosomal dominant limb-girdle muscular dystrophy 14
                  autosomal dominant limb-girdle muscular dystrophy type 3 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        peripheral nervous system disease 4107
          neuropathy 3892
            neuromuscular disease 3051
              muscular disease 2141
                muscle tissue disease 1288
                  myopathy 1003
                    muscular dystrophy 597
                      limb-girdle muscular dystrophy 198
                        autosomal dominant limb-girdle muscular dystrophy 14
                          autosomal dominant limb-girdle muscular dystrophy type 3 1
paths to the root