International Society for the Study of Vascular Anomalies (ISSVA) Ontology

Last uploaded: April 29, 2021

Preferred Name	Klippel-Trenaunay syndrome
Synonyms
Definitions	Associated with CM + VM +/- LM + limb overgrowth. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).
ID	http://purl.bioontology.org/ontology/ISSVA/ISSVA_084
comment	Associated with CM + VM +/- LM + limb overgrowth. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).
exactMatch	http://purl.obolibrary.org/obo/NCIT_C84801 http://www.orpha.net/ORDO/Orphanet_90308 http://snomed.info/id/721105004
label	Klippel-Trenaunay syndrome
prefixIRI	ISSVA_084
prefLabel	Klippel-Trenaunay syndrome
subClassOf	http://purl.bioontology.org/ontology/ISSVA/ISSVA_145

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_2926	DOID	LOOM
http://identifiers.org/omim/149000	REXO	LOOM
http://identifiers.org/omim/149000	GEXO	LOOM
http://identifiers.org/omim/149000	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_149000	CCO	LOOM
http://purl.obolibrary.org/obo/DOID_2926	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_2926	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_2926	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_2926	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_2926	FNS-H	LOOM
http://purl.obolibrary.org/obo/DERMO_0001979	DERMO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12005	HRDO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID19047	DERMLEX	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10051452	MEDDRA	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/721105004	SNOMEDCT	LOOM