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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by null
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G
OMIM
ClinVar
PMID:15367920 PMID:24647604 PMID:25741868 PMID:28492532 NCBI chr14:11,199,114...11,204,670
Ensembl chr14:11,198,896...11,202,669
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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 3 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 3 1
paths to the root