Preferred Name |
STURGE-WEBER SYNDROME |
Synonyms |
SWS |
ID |
http://purl.bioontology.org/ontology/OMIM/185300 |
altLabel |
SWS |
cui |
C0038505 |
Gene Locus |
9q21 |
Gene Symbol |
CMC1 SWS GNAQ |
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU041578 http://purl.bioontology.org/ontology/OMIM/MTHU012746 http://purl.bioontology.org/ontology/OMIM/MTHU015453 http://purl.bioontology.org/ontology/OMIM/MTHU015451 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU015449 http://purl.bioontology.org/ontology/OMIM/MTHU041577 http://purl.bioontology.org/ontology/OMIM/MTHU000242 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
185300 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
STURGE-WEBER SYNDROME |
tui |
T019 |