Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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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

GNAQ

SWS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU015452

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU012746

http://purl.bioontology.org/ontology/OMIM/MTHU015449

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU065221

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU015450

http://purl.bioontology.org/ontology/OMIM/MTHU065220

http://purl.bioontology.org/ontology/OMIM/MTHU015453

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
Scope Statement

Caused by somatic mosaic mutation in the guanine nucleotide-binding protein q gene (GNAQ, 600998.0001) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/19886006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10057653 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10042265 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10042265 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10057661 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/19886006 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002843 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10057653 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10042265 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D4-01010 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10057653 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/Q85.89 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/PK61. RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10057349 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10057349 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D013341 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D013341 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10057349 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10057661 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10057661 MEDDRA CUI
http://purl.obolibrary.org/obo/MONDO_0008501 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008501 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0111563 DOID LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/19886006 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.562.800 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.907.077.850 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D013341 MDM LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Sturge-Weber_Syndrome ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Sturge-Weber_Syndrome MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Sturge-Weber_Syndrome EPISEM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10042265 MEDDRA LOOM
http://www.gamuts.net/entity#Sturge_Weber_syndrome GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3391 NCIT LOOM
http://www.orpha.net/ORDO/Orphanet_3205 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.645.375.850 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D013341 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0008501 DOVES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#11796 OCHV LOOM
http://purl.obolibrary.org/obo/DERMO_0001978 DERMO LOOM
http://purl.bioontology.org/ontology/RCD/PK61. RCD LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036296 PMAPP-PMO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Sturge-Weber_Syndrome PEDTERM LOOM
http://identifiers.org/omim/185300 REXO LOOM
http://identifiers.org/omim/185300 GEXO LOOM
http://identifiers.org/omim/185300 RETO LOOM
http://purl.bioontology.org/ontology/ISSVA/ISSVA_140 ISSVA LOOM
http://purl.bioontology.org/ontology/MESH/D013341 MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PK61.00 RCTV2 LOOM
http://purl.obolibrary.org/obo/NCIT_C3391 BERO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_591 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_0111563 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_0111563 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0111563 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0111563 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0111563 FNS-H LOOM
http://purl.jp/bio/4/id/200906038977310206 IOBC LOOM
http://purl.obolibrary.org/obo/OMIT_0014216 OMIT LOOM