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ONTOLOGY REPORT - ANNOTATIONS


Term:Noonan syndrome 5
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Accession:DOID:0060583 term browser browse the term
Definition:A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. (DO)
Synonyms:exact_synonym: NS5
 primary_id: MESH:C548083
 alt_id: OMIM:611553;   RDO:0004664
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Noonan syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    syndrome 4713
      Noonan syndrome 43
        Noonan syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        Congenital Abnormalities 3188
          Cardiovascular Abnormalities 781
            congenital heart disease 730
              Noonan syndrome 43
                Noonan syndrome 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.