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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 11
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Accession:DOID:0112169 term browser browse the term
Definition:A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. (DO)
Synonyms:exact_synonym: NS11
 primary_id: MIM:618499

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Noonan syndrome 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mras muscle RAS oncogene homolog ISO ClinVar Annotator: match by term: Noonan syndrome 11 OMIM
ClinVar		 PMID:9400994 PMID:25252692 PMID:25741868 PMID:28289718 PMID:28492532 More... NCBI chrNW_004936540:672,783...725,129
Ensembl chrNW_004936540:672,544...725,143 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14573
    syndrome 9816
      RASopathy 327
        Noonan syndrome 62
          Noonan syndrome 11 1
Path 2
Term Annotations click to browse term
  disease 14573
    Developmental Disease 12732
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11937
        genetic disease 11654
          monogenic disease 9923
            autosomal genetic disease 9221
              autosomal dominant disease 6094
                Noonan syndrome 11 1
paths to the root