Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Carney-Stratakis syndrome
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	ORDO:97286 OMIM:606864 MESH:C564650 GARD:10643
definition	A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors.
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
subClassOf	http://purl.obolibrary.org/obo/DOID_225 http://purl.obolibrary.org/obo/DOID_0050736

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C564650	Medical Subject Headings	LOOM
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94831	National Cancer Institute Thesaurus	LOOM