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Joubert Syndrome

^ 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. [ NCI ]

Synonyms: Joubert Syndrome

Term info

Legacy Concept Name

Joubert_Syndrome

Preferred Name

Joubert Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0431399

code

C74996

Term relations