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

Last uploaded: April 29, 2021

Preferred Name	CLAPO syndrome
Synonyms
Definitions	Associated with lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth. CLAPO syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).
ID	http://purl.bioontology.org/ontology/ISSVA/ISSVA_050
comment	Associated with lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth. CLAPO syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).
exactMatch	http://www.orpha.net/ORDO/Orphanet_168984 http://snomed.info/id/717765001
label	CLAPO syndrome
prefixIRI	ISSVA_050
prefLabel	CLAPO syndrome
subClassOf	http://purl.bioontology.org/ontology/ISSVA/ISSVA_145

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0013125	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0013125	MONDO	LOOM
http://purl.bioontology.org/ontology/MESH/C567763	MESH	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/717765001	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_168984	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0013125	DOVES	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_17810	HRDO	LOOM
http://purl.obolibrary.org/obo/DERMO_0001982	DERMO	LOOM