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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 14
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Accession:DOID:9001824 term browser browse the term
Definition:A recessive developmental disorder within the RASopathy clinical spectrum. Caused by homozygous mutation in the SPRED2 gene on chromosome 2p14.
Synonyms:exact_synonym: NS14
 xref: MIM:619745;   MONDO:0030679

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Noonan Syndrome 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spred2 sprouty related EVH1 domain containing 2 ISO ClinVar Annotator: match by term: Noonan syndrome 14 OMIM
ClinVar		 PMID:25741868 PMID:34626534 NCBI chrNW_004955424:19,133,568...19,250,118
Ensembl chrNW_004955424:19,133,568...19,250,118 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14273
    Developmental Disease 12502
      congenital heart disease 1308
        Noonan syndrome 61
          Noonan Syndrome 14 1
Path 2
Term Annotations click to browse term
  disease 14273
    Developmental Disease 12502
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11732
        Congenital Abnormalities 7125
          Cardiovascular Abnormalities 1493
            congenital heart disease 1308
              Noonan syndrome 61
                Noonan Syndrome 14 1
paths to the root