Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

Williams syndrome
Synonyms

Williams syndrome

Williams-Beuren syndrome

monosomy 7q11.23

deletion 7q11.23

Williams-Beuren syndrome (WBS)

Fanconi Schlesinger syndrome

WMS

chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb

WBS
Definitions

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)
ID

http://purl.obolibrary.org/obo/MONDO_0008678
disease has feature

http://purl.obolibrary.org/obo/MONDO_0008504
has_exact_synonym

Williams syndrome

Williams-Beuren syndrome

monosomy 7q11.23

deletion 7q11.23

Williams-Beuren syndrome (WBS)

Fanconi Schlesinger syndrome
has_related_synonym

WMS

chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb

WBS
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/3680

https://github.com/monarch-initiative/mondo/issues/5588
label

Williams syndrome
prefixIRI

MONDO:0008678
prefLabel

Williams syndrome
textual definition

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)
subClassOf

http://purl.obolibrary.org/obo/MONDO_0005267

http://purl.obolibrary.org/obo/MONDO_0015159

http://purl.obolibrary.org/obo/MONDO_0017656

http://purl.obolibrary.org/obo/MONDO_0100500

http://purl.obolibrary.org/obo/MONDO_0043218

http://purl.obolibrary.org/obo/MONDO_0002320

http://purl.obolibrary.org/obo/MONDO_0015512

http://purl.obolibrary.org/obo/MONDO_0020165

http://purl.obolibrary.org/obo/MONDO_0016906
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http://purl.obolibrary.org/obo/MONDO_0008678 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008678 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008678 KTAO SAME_URI
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 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://www.limics.org/hrdo/rdfns#pat_id_145 HRDO 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