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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 2
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Accession:DOID:0060580 term browser browse the term
Definition:A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in an autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: NS2
 broad_synonym: Noonan syndrome, autosomal recessive
 primary_id: MESH:C548081
 alt_id: OMIM:605275
For additional species annotation, visit the Alliance of Genome Resources.



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Noonan syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Noonan syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome autosomal recessive OMIM
ClinVar
PMID:16199547 PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      congenital heart disease 1140
        Noonan syndrome 55
          Noonan syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                Noonan syndrome 2 1
paths to the root