Terminology Service for NFDI4Health
Joubert Syndrome
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http://purl.obolibrary.org/obo/NCIT_C74996
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. [ ]
Term info
Label
Joubert Syndrome
Synonyms
- Joubert Syndrome
Legacy Concept Name
Joubert_Syndrome
Preferred Name
Joubert Syndrome
Semantic Type
Disease or Syndrome
UMLS CUI
C0431399
code
C74996