Preferred Name

Williams syndrome

Synonyms

Syndrome de Williams-Beuren

Monosomia 7q11.23

Williams-Beuren, síndrome de

Monosomy 7q11.23

ID

http://www.limics.org/hrdo/rdfns#pat_id_145

ageOfOnset

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Neonatal/infancy

Neonatal / infancia

Néonatal/petite enfance

Neonatal/Kleinkindalter

altLabel

Syndrome de Williams-Beuren

Monosomia 7q11.23

Williams-Beuren, síndrome de

Monosomy 7q11.23

Síndrome de Williams-Beuren

Monosomie 7q11.23

Williams-Beuren syndrome

Síndrome de Williams-Beuren

Sindrome di Williams-Beuren

Williams-Beuren-Syndrom

Deletion 7q11.23

Delezione 7q11.23

Délétion 7q11.23

id_MedDRA

10049644

id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22williams+syndrome%22%5BMeSH+Terms%5D+OR+%28Williams+syndrome%5BText+Word%5D+NOT+medline%5Bsb%5D%29

id_MeSH

D018980

id_MIM

194050

id_OMS

Q87.8

id_Orpha

904

id_SNOMEDCT

63247009

id_UMLS

C0175702

inheritance

Esporádico

Sporadic

Sporadisch

Sporadique

Sporadica

Sporadic

Esporádica

patType

malformation syndrome

prefixIRI

hrdo:pat_id_145

prefLabel

Sindrome di Williams

Síndrome de Williams

Síndrome de Williams

Williams syndrome

Syndrome de Williams

Williams-Syndrom

prevalence

Inconnu

Unknown

Unknown

Desconocido

Unbekannt

Desconhecido

Sconosciuto

subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_8

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0008678 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008678 EFO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0175702 OCHV LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Williams_Syndrome APANEUROCLUSTER LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Williams_Syndrome APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Williams_Syndrome APAONTO LOOM
http://purl.bioontology.org/ontology/CSP/4006-0100 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.597.606.643.970 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D018980 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.970 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.970 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00301 SNMI LOOM
http://www.orpha.net/ORDO/Orphanet_904 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/63247009 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MONDO_0008678 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0008678 KTAO LOOM
http://www.gamuts.net/entity#Williams_syndrome GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Williams_Syndrome CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#18179 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0019100 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040031 PMAPP-PMO LOOM
http://nanbyodata.jp/ontology/NANDO_2200286 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85232 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q93.82 ICD10CM LOOM
http://neuromorpho.org/ontologies/experimentconditionH.owl#NMOOt_1036 NMOBR LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Williams_Syndrome PEDTERM LOOM
http://id.nlm.nih.gov/mesh/D018980 MDM LOOM
http://purl.obolibrary.org/obo/NCIT_C85232 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10049644 MEDDRA LOOM
http://purl.bioontology.org/ontology/MESH/D018980 MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200664 NANDO LOOM
http://purl.jp/bio/4/id/200906054456893545 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C14.280.484.150.535.960 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1928 NATPRO LOOM