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ONTOLOGY REPORT - ANNOTATIONS


Term:fetal akinesia deformation sequence syndrome 4
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Accession:DOID:0111379 term browser browse the term
Definition:A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in NUP88 on chromosome 17p13.2. (DO)
Synonyms:exact_synonym: FADS4;   fetal akinesia deformation sequence 4
 primary_id: OMIM:618393
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fetal akinesia deformation sequence syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup88 nucleoporin 88 JBrowse link 10 57,581,828 57,606,171 RGD:7240710
RGD:8554872

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Path 1
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  disease 0
    Developmental Diseases 8822
      fetal akinesia deformation sequence syndrome 43
        fetal akinesia deformation sequence syndrome 4 1
Path 2
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  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1558
              muscular disease 1001
                Arthrogryposis 86
                  fetal akinesia deformation sequence syndrome 43
                    fetal akinesia deformation sequence syndrome 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.