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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Noonan syndrome 9
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Accession:DOID:0060587 term browser browse the term
Definition:A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. (DO)
Synonyms:exact_synonym: NS9;   SOS2-RELATED CONDITION
 primary_id: OMIM:616559


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Noonan syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578 		JBrowse link
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan syndrome 9 | ClinVar Annotator: match by term: SOS2-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17143282 PMID:17143285 PMID:17576681 More... NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      congenital heart disease 1349
        Noonan syndrome 54
          Noonan syndrome 9 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                Noonan syndrome 9 2
paths to the root