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ONTOLOGY REPORT - ANNOTATIONS


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 RAPSN on chromosome 11p11.2. (DO)
Synonyms:exact_synonym: FADS2;   fetal akinesia deformation sequence 2
 primary_id: OMIM:618388
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fetal akinesia deformation sequence syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rapsn receptor-associated protein of the synapse JBrowse link 3 79,859,815 79,869,486 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      fetal akinesia deformation sequence syndrome 43
        fetal akinesia deformation sequence syndrome 2 1
Path 2
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  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        peripheral nervous system disease 2163
          neuropathy 1987
            neuromuscular disease 1558
              muscular disease 1000
                Arthrogryposis 86
                  fetal akinesia deformation sequence syndrome 43
                    fetal akinesia deformation sequence syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.