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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
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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
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
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  disease 15553
    syndrome 5224
      Seckel syndrome 11
        Seckel syndrome 1 3
Path 2
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  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                complex cortical dysplasia with other brain malformations 492
                  Malformations of Cortical Development, Group I 347
                    microcephaly 218
                      Seckel syndrome 1 3
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