Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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 http://purl.bioontology.org/ontology/OMIM/MTHU015452 http://purl.bioontology.org/ontology/OMIM/MTHU015450
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	185300
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	STURGE-WEBER SYNDROME
tui	T019

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111563	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/MESH/D013341	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D013341	Medical Subject Headings	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3391	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q85.8	International Classification of Diseases, Version 10 - Clinical Modification	CUI