Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014
Preferred Name

Joubert Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Joubert_Syndrome

DEFINITION

A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.

label

Joubert Syndrome

prefixIRI

Thesaurus:Joubert_Syndrome

prefLabel

Joubert Syndrome

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder

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http://purl.bioontology.org/ontology/MEDDRA/10078574 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1022 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018772 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0050777 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050777 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050777 NIFSTD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/716997004 SNOMEDCT LOOM
http://www.gamuts.net/entity#Joubert_syndrome GAMUTS LOOM
http://purl.jp/bio/4/id/200906090111191439 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://www.orpha.net/ORDO/Orphanet_475 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 ORDO LOOM