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



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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:18827015 PMID:25741868 PMID:28516161 PMID:29053766 PMID:30244176 More... NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    physical disorder 4312
      arthrogryposis multiplex congenita 157
        arthrogryposis multiplex congenita-5 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      musculoskeletal system disease 7282
        connective tissue disease 5140
          bone disease 3815
            bone inflammation disease 1333
              arthropathy 1316
                arthrogryposis multiplex congenita 157
                  arthrogryposis multiplex congenita-5 1
paths to the root