{"Name":"Van der Woude syndrome 2","DiseaseID__c":"GARD:0007846","id":7846,"encodedName":"van-der-woude-syndrome-2","IsDeleted":false,"Disease_Name_Full__c":"Van der Woude syndrome 2","Xref_IDs__c":"C1847604; C536529; MEDGEN:338272; MONDO:0011712; OMIM:606713","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011712","Disease_Description__c":"Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.","GARD_Name__c":"Van der Woude syndrome 2","GARD_Synonym__c":"grhl3 van der woude syndrome; van der woude syndrome caused by mutation in grhl3; van der woude syndrome type 2; vws2","Curated_Disease_Description_Source__c":"MEDGEN:C1847604","Curated_Disease_Description__c":"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 discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 (119300).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:606713","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011712","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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 discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 (119300).","Curated_Disease_Description_Source__c":"MEDGEN:C1847604","GARD_Synonym__c":"grhl3 van der woude syndrome; van der woude syndrome caused by mutation in grhl3; van der woude syndrome type 2; vws2","Name":"Van der Woude syndrome 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1847604"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007846","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338272","Source__c":"C1847604","Xref__c":"MEDGEN:338272"},{"URL__c":"https://www.omim.org/entry/606713","Source__c":"C1847604; MONDO:0011712","Xref__c":"OMIM:606713"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536529","Source__c":"MONDO:0011712","Xref__c":"C536529"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847604","Source__c":"C1847604","Xref__c":"C1847604"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011712","Source__c":"GARD:0007846","Xref__c":"MONDO:0011712"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GRHL3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:606713","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000204","HPO_Synonym__c":"Cheiloschisis of upper lip; Cleft upper lip; Harelip","HPO_Name__c":"Cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606713","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A depression located on a lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100267","HPO_Name__c":"Lip pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606713","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606713","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The absence of all teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000674","HPO_Synonym__c":"Anodontia vera; Complete agenesis of all teeth; Complete dental agenesis; Failure of development of all teeth","HPO_Name__c":"Anodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606713","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The absence of five or less teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000668","HPO_Synonym__c":"Failure of development of between one and six teeth","HPO_Name__c":"Hypodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606713","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000689","HPO_Synonym__c":"Bad bite; Bilateral crossbite; Bilateral crossbite malocclusion; Incorrect relation between upper and lower dental arches; Malalignment of upper and lower dental arches; Malocclusion; Malocclusion of teeth; Misalignment of upper and lower dental arches; Occlusion anomaly","HPO_Name__c":"Dental malocclusion","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["grhl3 van der woude syndrome"," van der woude syndrome caused by mutation in grhl3"," van der woude syndrome type 2"," vws2"]}