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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:9002380 term browser browse the term
Synonyms:exact_synonym: CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS;   CAFÉ-AU-LAIT MACULES WITH PULMONARY STENOSIS;   WTSN;   cafe-au-lait spots with pulmonic stenosis
 primary_id: OMIM:193520
 alt_id: RDO:0008204
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis | ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots OMIM
ClinVar
PMID:190611 PMID:1302608 PMID:1568246 PMID:7655472 PMID:7904209 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    syndrome 9705
      Neurocutaneous Syndromes 273
        neurofibromatosis 34
          neurofibromatosis 1 8
            Watson Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        Nervous System Neoplasms 1762
          nervous system cancer 1128
            peripheral nervous system neoplasm 161
              Nerve Sheath Neoplasms 78
                peripheral nerve sheath neoplasm 45
                  neurofibroma 41
                    neurofibromatosis 34
                      neurofibromatosis 1 8
                        Watson Syndrome 1
paths to the root