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ONTOLOGY REPORT - ANNOTATIONS


Term:Noonan syndrome 4
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Accession:DOID:0060582 term browser browse the term
Definition:A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. (DO)
Synonyms:exact_synonym: NS4
 primary_id: MESH:C548082
 alt_id: OMIM:610733;   RDO:0004663
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Noonan syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:7240710
RGD:8554872
RGD:11063178
RGD:11063543
RGD:11063026

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Noonan syndrome 51
        Noonan syndrome 4 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 dominant disease 2079
                Noonan syndrome 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.