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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 MRAS on chromosome 3q22.3. (DO)
Synonyms:exact_synonym: NS11
 primary_id: OMIM:618499
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar Annotator: match by term: Noonan syndrome 11
OMIM
ClinVar
PMID:25252692 PMID:25741868 PMID:28289718 PMID:30348783 PMID:31173466 NCBI chr 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      congenital heart disease 1080
        Noonan syndrome 55
          Noonan syndrome 11 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                Noonan syndrome 11 1
paths to the root