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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 IAGP ClinVar Annotator: match by term: Noonan syndrome 14 OMIM
ClinVar		 PMID:25741868 PMID:34626534 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97409
    Developmental Disease 35157
      congenital heart disease 2000
        Noonan syndrome 79
          Noonan Syndrome 14 1
Path 2
Term Annotations click to browse term
  disease 97409
    Developmental Disease 35157
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28640
        Congenital Abnormalities 15070
          Musculoskeletal Abnormalities 5953
            Craniofacial Abnormalities 4873
              Noonan syndrome 79
                Noonan Syndrome 14 1
paths to the root