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ONTOLOGY REPORT - ANNOTATIONS


Term:Noonan syndrome 1
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Accession:DOID:0060578 term browser browse the term
Definition:A Noonan syndrome disease type 1 that has material basis in the PTPN11 gene on chromosome 12q24.
Synonyms:exact_synonym: NS1
 primary_id: OMIM:163950
 alt_id: RDO:9002164
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Noonan syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A2ml1 alpha-2-macroglobulin-like 1 JBrowse link 4 161,863,609 161,907,897 RGD:8554872
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
RGD:13592920
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:13592920
RGD:8554872
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:7240710
RGD:8554872
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Noonan syndrome 51
        Noonan syndrome 1 6
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 1 6
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.