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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


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Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I | ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 OMIM
ClinVar		 PMID:3258171 PMID:7318636 PMID:7720071 PMID:7762565 PMID:7795603 More... NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10127
            autosomal genetic disease 9334
              autosomal dominant disease 6137
                autosomal dominant limb-girdle muscular dystrophy 14
                  Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        peripheral nervous system disease 4038
          neuropathy 3843
            neuromuscular disease 3017
              muscular disease 2130
                muscle tissue disease 1287
                  myopathy 1000
                    muscular dystrophy 596
                      limb-girdle muscular dystrophy 194
                        autosomal dominant limb-girdle muscular dystrophy 14
                          Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 1
paths to the root