Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 RRAS2 on chromosome 11p15.2. (DO)
Synonyms:exact_synonym: NS12
 primary_id: OMIM:618624
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM
ClinVar
PMID:8052619 PMID:25741868 PMID:31130282 PMID:31130285 NCBI chr 1:178,940,515...179,010,257
Ensembl chr 1:178,940,516...179,010,257
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      congenital heart disease 1078
        Noonan syndrome 54
          Noonan syndrome 12 1
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          monogenic disease 7122
            autosomal genetic disease 6276
              autosomal dominant disease 4456
                Noonan syndrome 12 1
paths to the root