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ONTOLOGY REPORT - ANNOTATIONS


Term:fetal akinesia deformation sequence syndrome 3
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Accession:DOID:0111376 term browser browse the term
Definition:A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in DOK7 on chromosome 4p16.3. (DO)
Synonyms:exact_synonym: FADS3;   Fetal Akinesia Deformation Sequence 3
 primary_id: OMIM:618389
 alt_id: DOID:9008262
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fetal akinesia deformation sequence syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dok7 docking protein 7 JBrowse link 14 80,925,409 80,963,454 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      fetal akinesia deformation sequence syndrome 4
        fetal akinesia deformation sequence syndrome 3 1
Path 2
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  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                Arthrogryposis 54
                  fetal akinesia deformation sequence syndrome 4
                    fetal akinesia deformation sequence syndrome 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.