| 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 | |
| SKOS |
exactMatch MIM:193520 |
| Parent Relationships |
is_a autosomal dominant disease is_a RASopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |