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ONTOLOGY REPORT - ANNOTATIONS


Term:Seckel syndrome 2
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Accession:DOID:0070013 term browser browse the term
Definition:A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. (DO)
Synonyms:exact_synonym: Bird-headed dwarfism 2;   Microcephalic primordial dwarfism 2;   SCKL2
 broad_synonym: Seckel-type dwarfism 2
 related_synonym: RBBP8-related disorders
 primary_id: MESH:C537534
 alt_id: DOID:9008469;   OMIM:606744;   RDO:0003393
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      Seckel syndrome 11
        Seckel syndrome 2 2
Path 2
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  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 2 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.