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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
OMIM
PMID:25741868 PMID:28492532 PMID:29469822 PMID:30859559 PMID:32623905 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      congenital heart disease 1062
        Noonan syndrome 54
          Noonan syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                Noonan syndrome 2 1
paths to the root