Metadata | |
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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 | |
Parent Relationships |
is_a RASopathy |