Preferred Name |
WATSON SYNDROME |
Synonyms |
PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS |
ID |
http://purl.bioontology.org/ontology/OMIM/193520 |
altLabel |
PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS WTSN |
cui |
C0553586 |
Gene Locus |
17q11.2 |
Gene Symbol |
NFNS WSS NF1 VRNF |
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU027564 http://purl.bioontology.org/ontology/OMIM/MTHU014991 http://purl.bioontology.org/ontology/OMIM/MTHU014989 http://purl.bioontology.org/ontology/OMIM/MTHU014987 http://purl.bioontology.org/ontology/OMIM/MTHU014990 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU027563 http://purl.bioontology.org/ontology/OMIM/MTHU014988 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
193520 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
WATSON SYNDROME |
tui |
T047 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/D009456 | Medical Subject Headings | CUI |