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ONTOLOGY REPORT - ANNOTATIONS


Term:Seckel syndrome 1
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Accession:DOID:0070007 term browser browse the term
Definition:A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. (DO)
Synonyms:exact_synonym: SCKL1;   Seckel-type dwarfism;   microcephalic primordial dwarfism 1;   microcephalic primordial dwarfism I;   nanocephalic dwarfism
 primary_id: MESH:C537533
 alt_id: DOID:9007689;   OMIM:210600;   RDO:0003392
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      Seckel syndrome 11
        Seckel syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal dominant disease 2065
                complex cortical dysplasia with other brain malformations 477
                  Malformations of Cortical Development, Group I 334
                    microcephaly 206
                      Seckel syndrome 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.