Experimental Factor Ontology

Last uploaded: May 15, 2024

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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	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
closeMatch	http://identifiers.org/meddra/10049644
database_cross_reference	DECIPHER:3 DOID:1928 OMIM:194050 MESH:D018980 MedDRA:10049644 Orphanet:904 NORD:1854 UMLS:C0175702 SCTID:63247009 GARD:7891 NCIT:C85232 ICD9:759.89
definition	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)
exactMatch	http://identifiers.org/mesh/D018980 http://linkedlifedata.com/resource/umls/id/C0175702 http://purl.obolibrary.org/obo/Orphanet_904 https://omim.org/entry/194050 http://purl.obolibrary.org/obo/DOID_1928 http://identifiers.org/snomedct/63247009 http://purl.obolibrary.org/obo/NCIT_C85232
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
id	MONDO:0008678
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome
label	Williams syndrome
notation	MONDO:0008678
prefLabel	Williams syndrome
excluded_subClassOf	http://purl.obolibrary.org/obo/MONDO_0005071 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_0000508 http://purl.obolibrary.org/obo/MONDO_0020165
subClassOf	http://www.ebi.ac.uk/efo/EFO_0010642 http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/MONDO_0016906

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008678	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008678	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008678	KTAO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008678	MONDO	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://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