PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Williams Syndrome

Synonyms
ID

http://www.phoc.org.cn/pmo/class/PMO_00040031

Database_Cross_Reference

MDR:10049644

MTH:NOCODE

CSP:4006-0100

DXP:U000870

DO:DOID:1928

JABL:656

SNOMEDCT_US:63247009

OMIM:194050

MSH:D018980

CHV:0000018179

PSY:56764

SNMI:D4-00301

NCI_NICHD:C85232

LCH_NW:sh98004230

RCD:PKy4.

NDFRT:N0000003884

DXP:NOCODE

SNM:D-5358

NCI:C85232

MEDCIN:36058

label

Williams Syndrome

MCID

MC00066511

PMOID

PMO:00040031

prefixIRI

pmo:PMO_00040031

prefLabel

Williams Syndrome

Synonym

Williams Syndrome [Disease/Finding]

WILLIAMS SYNDROME

Williams-Barratt syndrome

Williams' syndrome

Syndrome, Williams-Beuren

Beuren Syndrome

Supravalvar Aortic Stenosis Syndrome

Williams syndrome (WMS, WS)

Williams syndrome

WMS

elfin-facies hypercalcemia syndrome

mental retardation-typical facies-aortic stenosis syndrome

Williams Beuren Syndrome

Stenosis, Hypercalcemia-Supravalvar Aortic

syndrome william beuren

william syndrome

Beuren syndrome

elfin facies syndrome

Williams-Beuren syndrome

Hypercalcemia-Supravalvar Aortic Stenoses

Williams syndrome (disorder)

Chromosome 7q11.23 Deletion Syndrome

Aortic Stenoses, Hypercalcemia-Supravalvar

William syndrome

Williams syndrome (diagnosis)

WILLIAMS-BEUREN SYNDROME

williams syndrome

williams' syndrome

williams beuren syndrome

Williams Beuren syndrome

idiopathic hypercalcemia-supravalvular aortic stenosis syndrome

Williams Barratt syndrome

Williams-Beuren Syndrome (WBS)

Syndrome, Williams

WS

Williams Contiguous Gene Syndrome

Contiguous Gene Syndrome, Williams

williams-beuren syndrome

syndrome williams

WBS

Hypercalcemia-Supravalvar Aortic Stenosis

hypercalcemia-peculiar facies-supravalvular aortic stenosis syndrome

beuren syndrome williams

HYPERCALCEMIA, INFANTILE IDIOPATHIC

Williams-Beuren Syndrome

Syndrome, Beuren

Williams-Beuren syndrome (WBS)

CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB

hypercalcemia/Williams-Beuren syndrome

Fanconi Schlesinger syndrome

Hypercalcemia Supravalvar Aortic Stenosis

Aortic Stenosis, Hypercalcemia-Supravalvar

Stenoses, Hypercalcemia-Supravalvar Aortic

Fanconi-Schlesinger syndrome

Tree Number

T9.8.3.9.4

T3.25.70.9.3

T9.20.1.15.3.2.1

T9.8.4.32.4

T3.25.90.3

T3.25.11.5.9.3

T9.21.1.5.9.3

T9.20.1.11.1.2.1

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00004751

http://www.phoc.org.cn/pmo/class/PMO_00036255

http://www.phoc.org.cn/pmo/class/PMO_00040104

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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 EFO 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://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