Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Van der Woude syndrome
Synonyms

VWS

Cleft lip/palate with mucous cysts of lower lip

Lip-pit syndrome

Definitions

Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.

ID

http://www.orpha.net/ORDO/Orphanet_888

alternative_term

VWS

Cleft lip/palate with mucous cysts of lower lip

Lip-pit syndrome

definition

Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=888

has_age_of_onset

Neonatal

has_inheritance

Not applicable

Autosomal dominant

hasDbXref

ICD-10:Q38.0

MeSH:C536528

UMLS:C0175697

OMIM:604547

OMIM:119300

OMIM:606713

ICD-11:LD2F.1Y

label

Van der Woude syndrome

notation

ORPHA:888

part_of

http://www.orpha.net/ORDO/Orphanet_156237

http://www.orpha.net/ORDO/Orphanet_102285

http://www.orpha.net/ORDO/Orphanet_330206

prefixIRI

ORDO:Orphanet_888

prefLabel

Van der Woude syndrome

present_in

Finland AND has_point_prevalence_average_value : 1.7 AND has_point_prevalence_range : 1-9 / 100 000

Taiwan, Province of China AND has_point_prevalence_range : 1-9 / 1 000 000

France AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000

United States AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000

Europe AND has_point_prevalence_range : 1-9 / 100 000

Australia AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000

France AND has_point_prevalence_range : 1-9 / 100 000

United States AND has_point_prevalence_range : 1-9 / 1 000 000

Australia AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000

Taiwan, Province of China AND has_birth_prevalence_average_value : 0.85 AND has_birth_prevalence_range : 1-9 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_156237

http://www.orpha.net/ORDO/Orphanet_102285

http://www.orpha.net/ORDO/Orphanet_330206

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_888 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_888 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_888 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019508 MONDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74986 NCIT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Van_Der_Woude_Syndrome PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Van_der_Woude_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/NCIT_C74986 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0175697 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/79261008 SNOMEDCT LOOM
rgo:26933 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_0060239 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060239 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060239 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0060239 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060239 FNS-H LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00704 SNMI LOOM
http://purl.obolibrary.org/obo/MONDO_0019508 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0019508 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019508 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019508 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019508 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536528 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_967 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/C536528 MESH LOOM
http://www.gamuts.net/entity#van_der_Woude_syndrome GAMUTS REST