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ONTOLOGY REPORT - ANNOTATIONS


Term:Seckel syndrome
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Accession:DOID:0050569 term browser browse the term
Definition:An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. (DO)
Synonyms:exact_synonym: Harper's syndrome;   SCKL;   Virchow-Seckel dwarfism;   bird-headed dwarfism;   microcephalic primordial dwarfism
 primary_id: RDO:9004907
 xref: GARD:8562;   OMIM:PS210600;   ORDO:808
For additional species annotation, visit the Alliance of Genome Resources.


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Seckel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:8554872
RGD:13592920
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 JBrowse link 5 86,387,238 86,554,108 RGD:13450906
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:8554872
RGD:13592920
G Cep152 centrosomal protein 152 JBrowse link 3 117,822,799 117,894,856 RGD:8554872
G Cep63 centrosomal protein 63 JBrowse link 8 111,063,988 111,116,014 RGD:13592920
G Rbbp8 RB binding protein 8, endonuclease JBrowse link 18 3,134,630 3,227,702 RGD:8554872
G Rnf17 ring finger protein 17 JBrowse link 15 36,609,348 36,744,750 RGD:8554872
Seckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:7240710
RGD:8554872
RGD:10053614
G Cep152 centrosomal protein 152 JBrowse link 3 117,822,799 117,894,856 RGD:11554173
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:11554173
Seckel syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase JBrowse link 7 99,677,295 99,900,765 RGD:8554872
RGD:7240710
Seckel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:11554173
G Rbbp8 RB binding protein 8, endonuclease JBrowse link 18 3,134,630 3,227,702 RGD:7240710
RGD:8554872
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
RGD:8554872
RGD:11541118
RGD:11541114
G Rnf17 ring finger protein 17 JBrowse link 15 36,609,348 36,744,750 RGD:8554872
Seckel syndrome 5 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:8554872
G Cep152 centrosomal protein 152 JBrowse link 3 117,822,799 117,894,856 RGD:7240710
RGD:8554872
G Rnf17 ring finger protein 17 JBrowse link 15 36,609,348 36,744,750 RGD:8554872
Seckel syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep63 centrosomal protein 63 JBrowse link 8 111,063,988 111,116,014 RGD:7240710
RGD:8554872
Seckel syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nin ninein JBrowse link 6 92,423,412 92,527,776 RGD:7240710
RGD:8554872
Seckel syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Traip TRAF-interacting protein JBrowse link 8 116,730,170 116,750,528 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Seckel syndrome 11
        Seckel Syndrome 3 0
        Seckel syndrome 1 3
        Seckel syndrome 10 1
        Seckel syndrome 2 2
        Seckel syndrome 4 2
        Seckel syndrome 5 3
        Seckel syndrome 6 1
        Seckel syndrome 7 1
        Seckel syndrome 8 0
        Seckel syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                Seckel syndrome 11
                  Seckel Syndrome 3 0
                  Seckel syndrome 1 3
                  Seckel syndrome 10 1
                  Seckel syndrome 2 2
                  Seckel syndrome 4 2
                  Seckel syndrome 5 3
                  Seckel syndrome 6 1
                  Seckel syndrome 7 1
                  Seckel syndrome 8 0
                  Seckel syndrome 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.