National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Joubert Syndrome
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996
code	C74996
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
Legacy_Concept_Name	Joubert_Syndrome
Preferred_Name	Joubert Syndrome
prefixIRI	C74996
prefLabel	Joubert Syndrome
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0431399
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_0050777	Human Disease Ontology 123	LOOM
	http://purl.bmicc.cn/ontology/ICD11CN/LD20.00	International Classification of Diseases, 11th Edition, China	LOOM