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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 4
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Accession:DOID:9006843 term browser browse the term
Definition:A disease characterized by onset of proximal muscle weakness in young adulthood.
Synonyms:exact_synonym: LGMD1I;   LGMDD4;   autosomal dominant limb-girdle muscular dystrophy 4;   limb-girdle muscular dystrophy type 1I
 broad_synonym: CAPN3-RELATED DISORDER
 primary_id: OMIM:618129
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            autosomal genetic disease 5501
              autosomal dominant disease 3756
                autosomal dominant limb-girdle muscular dystrophy 8
                  Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        peripheral nervous system disease 2422
          neuropathy 2233
            neuromuscular disease 1779
              muscular disease 1190
                muscle tissue disease 813
                  myopathy 649
                    muscular dystrophy 315
                      limb-girdle muscular dystrophy 147
                        autosomal dominant limb-girdle muscular dystrophy 8
                          Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 1
paths to the root