Digital medicine Outcomes Value Set (DOVeS) Ontology - angioosteohypertrophic syndrome - Classes | NCBO BioPortal

Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	angioosteohypertrophic syndrome
Synonyms	Klippel Trenaunay syndrome angioosteohypertrophy syndrome Klippel-Trenaunay syndrome haemangiectatic hypertrophy Klippel-Trenaunay-Weber syndrome Klippel-Trénaunay syndrome Klippel-Trénaunay-Weber syndrome Klippel-Trenaunay-Weber syndrome, Isolated cases Weber-Klippel-Trenaunay angio-osteohypertrophy syndrome Ktw syndrome KTS
Definitions	A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.
ID	http://purl.obolibrary.org/obo/MONDO_0007864
has_exact_synonym	Klippel Trenaunay syndrome angioosteohypertrophy syndrome Klippel-Trenaunay syndrome haemangiectatic hypertrophy Klippel-Trenaunay-Weber syndrome Klippel-Trénaunay syndrome Klippel-Trénaunay-Weber syndrome Klippel-Trenaunay-Weber syndrome, Isolated cases Weber-Klippel-Trenaunay
has_related_synonym	angio-osteohypertrophy syndrome Ktw syndrome KTS
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5682 https://github.com/monarch-initiative/mondo/issues/4521
label	angioosteohypertrophic syndrome
prefixIRI	MONDO:0007864
prefLabel	angioosteohypertrophic syndrome
seeAlso	https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome
textual definition	A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0016229 http://purl.obolibrary.org/obo/MONDO_0019716 http://purl.obolibrary.org/obo/MONDO_0016524 http://purl.obolibrary.org/obo/MONDO_0002254

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0007864	MONDO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0007864	EFO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0007864	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0007864	EFO	LOOM
	http://www.orpha.net/ORDO/Orphanet_2346	ORDO	LOOM
	http://purl.bioontology.org/ontology/SNOMEDCT/723991007	SNOMEDCT	LOOM
	http://www.limics.org/hrdo/rdfns#pat_id_523	HRDO	LOOM