Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024

Preferred Name	Carney-Stratakis syndrome
Synonyms
Definitions	A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.
ID	http://purl.obolibrary.org/obo/DOID_0080533
database_cross_reference	OMIM:606864 MESH:C564650 GARD:10643 ORDO:97286
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0080533
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Carney-Stratakis syndrome
notation	DOID:0080533
prefLabel	Carney-Stratakis syndrome
textual definition	A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_225

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0080533	DOID	SAME_URI
http://purl.obolibrary.org/obo/DOID_0080533	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0080533	FNS-H	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011740	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011740	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_0080533	DOID	LOOM
http://purl.obolibrary.org/obo/NCIT_C94831	BERO	LOOM
http://purl.bioontology.org/ontology/MESH/C564650	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564650	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12880	HRDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94831	NCIT	LOOM
http://www.gamuts.net/entity#Carney_Stratakis_syndrome	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DOID_0080533	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0080533	FNS-H	LOOM
http://purl.obolibrary.org/obo/MONDO_0011740	DOVES	LOOM
http://www.orpha.net/ORDO/Orphanet_97286	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/722377004	SNOMEDCT	LOOM