Medical Subject Headings

Last uploaded: April 29, 2019
Preferred Name

Van der Woude syndrome

Synonyms

Cleft lip and-or palate with mucous cysts of lower lip

ID

http://purl.bioontology.org/ontology/MESH/C536528

altLabel

Cleft lip and-or palate with mucous cysts of lower lip

Lip-Pit Syndrome

Lip pit syndrome

cui

C0175697

Has mapping qualifier

http://purl.bioontology.org/ontology/MESH/Q000002

HM

D002972

D000015

D002971

D008046/Q000002

D003560

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D002972

http://purl.bioontology.org/ontology/MESH/D000015

http://purl.bioontology.org/ontology/MESH/D002971

http://purl.bioontology.org/ontology/MESH/D003560

http://purl.bioontology.org/ontology/MESH/D008046

MDA

20100825

MeSH Frequency

86

MMR

20151112

notation

C536528

prefLabel

Van der Woude syndrome

SC

3

Scope Statement

An autosomal dominant hereditary developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Mutations in the IRF6 gene have been identified. OMIM: 119300

TERMUI

T000889012

T800638

T739616

T739619

TH

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T047

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http://www.owl-ontologies.com/Ontology1358660052.owl#Van_Der_Woude_Syndrome PEDTERM LOOM
http://purl.bioontology.org/ontology/CSP/2483-6315 CRISP CUI
http://purl.obolibrary.org/obo/DOID_0060239 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060239 NIFSTD LOOM
http://purl.bioontology.org/ontology/OMIM/119300 OMIM CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Van_der_Woude_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q38.0 ICD10CM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536528 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74986 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74986 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74986 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74986 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74986 NCIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/79261008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/79261008 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MONDO_0019508 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019508 MONDO LOOM
http://www.orpha.net/ORDO/Orphanet_888 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_888 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_888 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_888 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_888 HORD LOOM
http://www.orpha.net/ORDO/Orphanet_888 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_888 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_888 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_888 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_888 EFO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00704 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D4-00704 SNMI LOOM
http://purl.bioontology.org/ontology/CSP/0725-7823 CRISP CUI
http://www.limics.org/hrdo/rdfns#pat_id_967 HRDO LOOM
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI