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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 6
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Accession:DOID:0060584 term browser browse the term
Definition:A Noonan syndrome that has_material_basis in heterozygous mutation in the NRAS gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: NS6
 primary_id: MESH:C548084
 alt_id: OMIM:613224
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      congenital heart disease 1083
        Noonan syndrome 55
          Noonan syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                Noonan syndrome 6 1
paths to the root