Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 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

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http://purl.bioontology.org/ontology/MESH/C564650 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0011740 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0011740 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_97286 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94831 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM