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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:fetal akinesia deformation sequence syndrome 2
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Accession:DOID:0111378 term browser browse the term
Definition:A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. (DO)
Synonyms:exact_synonym: FADS2;   fetal akinesia deformation sequence 2
 primary_id: OMIM:618388


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Path 1
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  disease 18976
    syndrome 10887
      fetal akinesia deformation sequence syndrome 63
        fetal akinesia deformation sequence syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            bone inflammation disease 1494
              arthropathy 1473
                arthrogryposis multiplex congenita 241
                  fetal akinesia deformation sequence syndrome 63
                    fetal akinesia deformation sequence syndrome 2 1
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