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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;   Noonan Syndrome, Autosomal Recessive
 primary_id: MESH:C548081
 alt_id: OMIM:605275;   RDO:0004662
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 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 16023
    syndrome 7003
      RASopathy 77
        Noonan syndrome 54
          Noonan syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                Noonan syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.