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loading...| Preferred Name |
Joubert Syndrome |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Joubert_Syndrome |
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| 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. |
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| label |
Joubert Syndrome |
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| prefixIRI |
Thesaurus:Joubert_Syndrome |
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| prefLabel |
Joubert Syndrome |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |
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