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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:arthrogryposis multiplex congenita-5
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Accession:DOID:0080981 term browser browse the term
Definition:An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: AMC5
 primary_id: OMIM:618947
 alt_id: DOID:9008886


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arthrogryposis multiplex congenita-5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOR1A torsin family 1 member A ISO ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5 OMIM
ClinVar		 PMID:9288096 PMID:11523564 PMID:17503336 PMID:18519876 PMID:18827015 More... NCBI chr 9:54,017,895...54,027,049
Ensembl chr 9:54,017,952...54,026,680 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4882
      arthrogryposis multiplex congenita 243
        arthrogryposis multiplex congenita-5 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15151
      musculoskeletal system disease 7747
        connective tissue disease 5283
          bone disease 3829
            bone inflammation disease 1290
              arthropathy 1270
                arthrogryposis multiplex congenita 243
                  arthrogryposis multiplex congenita-5 1
paths to the root