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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 homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO)
Synonyms:exact_synonym: NS2
 broad_synonym: Noonan syndrome, autosomal recessive
 xref: MESH:C548081;   MIM:605275;   MONDO:0011531


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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 post translational regulator 1 ISO ClinVar Annotator: match by term: Noonan syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome autosomal recessive ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24362817 PMID:25335493 More... NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15675
    syndrome 10403
      RASopathy 337
        Noonan syndrome 62
          Noonan syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15675
    Developmental Disease 13618
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12660
        genetic disease 12354
          monogenic disease 10464
            autosomal genetic disease 9688
              autosomal recessive disease 6780
                Noonan syndrome 2 1
paths to the root