Van der woude syndrome 2

Preferred Label : Van der woude syndrome 2;

Symbol : VWS2;

CISMeF acronym : VWS2;

Type : Phenotype, molecular basis known;

Description : Van der Woude syndrome (VWS) is a dominantly inherited 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. For a phenotypic description and a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 (119300). See also orofacial cleft-13 (OFC13; 613857) for a susceptibility locus mapping to chromosome 1p33.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the grainyhead-like-3 gene (GRHL3, 608317.0001);

Prefixed ID : #606713;

Details

Origin ID

606713;

UMLS CUI

C1847604;

Broader ORDO disease(s)
- Van der Woude syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Van der Woude syndrome 2 [MeSH concept]
- van der woude syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- Van der Woude syndrome [DO Concept]
Genes related to phenotype
- Grainyhead-like 3 [OMIM gene]
HPO term(s)
- Anodontia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
ORDO concept(s)
- Van der Woude syndrome [ORDO Disease]
See also inter- (CISMeF)
- Van der Woude syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Van der Woude syndrome 2 [MeSH concept]
- van der woude syndrome 2 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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