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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 Mkrn2 makorin, ring finger protein, 2 JBrowse link 4 147,514,041 147,532,086 RGD:8554872
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 15984
    syndrome 6094
      RASopathy 77
        Noonan syndrome 54
          Noonan syndrome 5 2
Path 2
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal dominant disease 2713
                Noonan syndrome 5 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.