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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996
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|---|---|
| Preferred Name | Joubert Syndrome |
| Definitions |
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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| Synonyms |
Joubert Syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Joubert Syndrome
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|---|---|
| Legacy Concept Name |
Joubert_Syndrome
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| Preferred_Name |
Joubert Syndrome
|
| Semantic_Type |
Disease or Syndrome
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| prefixIRI |
Thesaurus:C74996
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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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| UMLS_CUI |
C0431399
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| code |
C74996
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| subClassOf | |
| type | |
| FULL_SYN |
Joubert Syndrome
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| Contributing_Source |
Cellosaurus
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| Concept_In_Subset |
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