FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Joubert syndrome ID (Ontology) DOID:0050777 (Human Disease)
Definition A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Also Known As "JBTS"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available
Spanning Tree (Parents/Children)
Only view relationship: 
monogenic disease
 |__ciliopathy__________________
syndrome                        |
 |__ciliopathy__________________|
central nervous system disease  |
 |__brain disease_______________|
                                Joubert syndrome  15 rec.
                                 |__Joubert syndrome 1 1 rec.
                                 |__Joubert syndrome 2 2 rec.
                                 |__Joubert syndrome 3
                                 |__Joubert syndrome 4
                                 |__Joubert syndrome 5 1 rec.
                                 |__Joubert syndrome 6 1 rec.
                                 |__Joubert syndrome 7
                                 |__Joubert syndrome 8
                                 |__Joubert syndrome 9 1 rec.
                                 |__Joubert syndrome 10
                                 |__Joubert syndrome 13 1 rec.
                                 |__Joubert syndrome 14
                                 |__Joubert syndrome 15
                                 |__Joubert syndrome 16 1 rec.
                                 |__Joubert syndrome 17
                                 |__Joubert syndrome 18 1 rec.
                                 |__Joubert syndrome 20 1 rec.
                                 |__Joubert syndrome 21
                                 |__Joubert syndrome 22 1 rec.
                                 |__Joubert syndrome 23
                                 |__Joubert syndrome 24
                                 |__Joubert syndrome 25 1 rec.
                                 |__Joubert syndrome 26
                                 |__Joubert syndrome 27 1 rec.
                                 |__Joubert syndrome 28 1 rec.
                                 |__Joubert syndrome 29
                                 |__Joubert syndrome 30
                                 |__Joubert syndrome 31 1 rec.
                                 |__Joubert syndrome 32 1 rec.
                                 |__Joubert syndrome 33
                                 |__Joubert syndrome with orofaciodigital defect
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a ciliopathy
brain disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "JBTS" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
GARD:6802
ICD10CM:Q04.3
MIM:PS213300
ORDO:475