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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 12
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Accession:DOID:0112170 term browser browse the term
Definition:A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. (DO)
Synonyms:exact_synonym: NS12;   RRAS2-RELATED CONDITION
 primary_id: OMIM:618624


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Noonan syndrome 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRAS2 RAS related 2 ISO ClinVar Annotator: match by term: Noonan syndrome 12 | ClinVar Annotator: match by term: RRAS2-related condition OMIM
ClinVar		 PMID:8052619 PMID:25741868 PMID:28492532 PMID:31130282 PMID:31130285 More... NCBI chr 2:44,890,129...44,961,003 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      congenital heart disease 1321
        Noonan syndrome 55
          Noonan syndrome 12 1
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal dominant disease 6057
                Noonan syndrome 12 1
paths to the root