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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:Watson syndrome
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Accession:DOID:0070483 term browser browse the term
Definition:A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2. (DO)
Synonyms:exact_synonym: WTSN;   cafe-au-lait macules with pulmonary stenosis;   cafe-au-lait spots with pulmonic stenosis
 primary_id: OMIM:193520
 alt_id: DOID:9002380


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Watson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots		 OMIM
CTD
ClinVar		 PMID:190611 PMID:1302608 PMID:1568246 PMID:1757093 PMID:1783401 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      RASopathy 258
        Watson syndrome 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              pigmentation disease 278
                Cafe-au-Lait Spots 9
                  Watson syndrome 1
paths to the root