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

Last uploaded: April 29, 2021

Preferred Name	Bannayan-Riley-Ruvalcaba syndrome
Synonyms
Definitions	Associated with AVM + VM +macrocephaly, lipomatous overgrowth
ID	http://purl.bioontology.org/ontology/ISSVA/ISSVA_028
comment	Associated with AVM + VM +macrocephaly, lipomatous overgrowth
exactMatch	http://www.orpha.net/ORDO/Orphanet_109 http://snomed.info/id/234138005
label	Bannayan-Riley-Ruvalcaba syndrome
prefixIRI	ISSVA_028
prefLabel	Bannayan-Riley-Ruvalcaba syndrome
subClassOf	http://purl.bioontology.org/ontology/ISSVA/ISSVA_145

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0050657	DOID	LOOM
rgo:01237	GAMUTS	LOOM
rgo:01237	GAMUTS	LOOM
http://purl.obolibrary.org/obo/MONDO_0007924	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007924	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0050657	DOID	LOOM
http://purl.obolibrary.org/obo/DERMO_0000619	DERMO	LOOM
http://identifiers.org/omim/153480	REXO	LOOM
http://identifiers.org/omim/153480	GEXO	LOOM
http://identifiers.org/omim/153480	RETO	LOOM
http://purl.obolibrary.org/obo/NCIT_C3939	BERO	LOOM
http://purl.obolibrary.org/obo/DOID_0050657	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0050657	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_0050657	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050657	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050657	FNS-H	LOOM
http://id.nlm.nih.gov/mesh/D006223	MDM	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10080314	MEDDRA	LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy0000	RCTV2	LOOM
http://www.orpha.net/ORDO/Orphanet_109	ORDO	LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000758212	PDQ	LOOM
http://purl.obolibrary.org/obo/MONDO_0007924	DOVES	LOOM
http://www.gamuts.net/entity#Bannayan_Riley_Ruvalcaba_syndrome	GAMUTS	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3939	NCIT	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1473	HRDO	LOOM
http://purl.obolibrary.org/obo/OMIM_153480	CCO	LOOM