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Metadata
ID DOID:0070483
Name Watson syndrome
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.
https://pubmed.ncbi.nlm.nih.gov/1770531/, https://pubmed.ncbi.nlm.nih.gov/6025371/
Xrefs

MIM:193520

Parent Relationships

is_a RASopathy

is_a autosomal dominant disease

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