Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
Pulmonary valvular stenosis-cafe-au-lait spots syndrome
|
| gptkbp:firstDescribed |
gptkb:James_Watson
1967 |
| https://www.w3.org/2000/01/rdf-schema#label |
Watson syndrome
|
| gptkbp:ICD-10_code |
Q87.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:NF1_gene
|
| gptkbp:OMIM |
193520
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:neurofibromatosis_type_1
|
| gptkbp:symptom |
short stature
café-au-lait spots neurofibromas mild intellectual disability freckling in the axillary or inguinal regions pulmonary valvular stenosis |
| gptkbp:bfsParent |
gptkb:NF1_gene
|
| gptkbp:bfsLayer |
7
|