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Chinchilla Research Resource Database


Term:Seckel syndrome 4
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Accession:DOID:0070010 term browser browse the term
Definition:A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. (DO)
Synonyms:exact_synonym: SCKL4
 primary_id: OMIM:613676
 alt_id: RDO:0009938
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Seckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:7240710
G Rnf17 ring finger protein 17 JBrowse link 15 36,609,348 36,744,750 RGD:8554872

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Path 1
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  disease 14759
    syndrome 4210
      Seckel syndrome 11
        Seckel syndrome 4 2
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Seckel syndrome 4 2
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