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Mondo Disease Ontology
| Preferred Name | van der Woude syndrome | |
| Synonyms |
cleft lip and/or palate with mucous cysts of lower lip lip pit syndrome LPS lip-pit syndrome VWS cleft lip/palate with mucous cysts of lower lip |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019508 |
|
| database_cross_reference |
MESH:C536528 NCIT:C74986 icd11.foundation:133440037 Orphanet:888 SCTID:79261008 MEDGEN:61233 UMLS:C0175697 ICD9:744.89 GARD:8414 DOID:0060239
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|
| 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.
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|
| has_exact_synonym |
lip-pit syndrome VWS cleft lip/palate with mucous cysts of lower lip
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|
| has_related_synonym |
cleft lip and/or palate with mucous cysts of lower lip lip pit syndrome LPS
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|
| id |
MONDO:0019508
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
|
| label |
van der Woude syndrome
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|
| notation |
MONDO:0019508
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|
| prefLabel |
van der Woude syndrome
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| skos_exactMatch |
http://identifiers.org/medgen/61233 http://linkedlifedata.com/resource/umls/id/C0175697 http://purl.obolibrary.org/obo/NCIT_C74986 http://purl.obolibrary.org/obo/DOID_0060239 http://identifiers.org/mesh/C536528 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/133440037 |
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