FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ciliopathy ID (Ontology) DOID:0060340 (Human Disease)
Definition A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.
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disease
 |__syndrome___________
genetic disease        |
 |__monogenic disease__|
                       ciliopathy  84 rec.
                        |__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
                        |__Meckel syndrome 6 rec.
                        |   |__Meckel syndrome 1 1 rec.
                        |   |__Meckel syndrome 2 2 rec.
                        |   |__Meckel syndrome 3 1 rec.
                        |   |__Meckel syndrome 4 1 rec.
                        |   |__Meckel syndrome 5
                        |   |__Meckel syndrome 6 1 rec.
                        |   |__Meckel syndrome 7
                        |   |__Meckel syndrome 8
                        |   |__Meckel syndrome 13
                        |__primary ciliary dyskinesia 69 rec.
                            |__Kartagener syndrome
                            |__primary ciliary dyskinesia 1 1 rec.
                            |__primary ciliary dyskinesia 2 1 rec.
                            |__primary ciliary dyskinesia 3 2 rec.
                            |__primary ciliary dyskinesia 4
                            |__primary ciliary dyskinesia 5 1 rec.
                            |__primary ciliary dyskinesia 6 2 rec.
                            |__primary ciliary dyskinesia 7 2 rec.
                            |__primary ciliary dyskinesia 8
                            |__primary ciliary dyskinesia 9 4 rec.
                            |__primary ciliary dyskinesia 10 1 rec.
                            |__primary ciliary dyskinesia 11 1 rec.
                            |__primary ciliary dyskinesia 12 1 rec.
                            |__primary ciliary dyskinesia 13 1 rec.
                            |__primary ciliary dyskinesia 14 1 rec.
                            |__primary ciliary dyskinesia 15 1 rec.
                            |__primary ciliary dyskinesia 16 2 rec.
                            |__primary ciliary dyskinesia 17 1 rec.
                            |__primary ciliary dyskinesia 18 3 rec.
                            |__primary ciliary dyskinesia 19 1 rec.
                            |__primary ciliary dyskinesia 20 1 rec.
                            |__primary ciliary dyskinesia 21 1 rec.
                            |__primary ciliary dyskinesia 22 2 rec.
                            |__primary ciliary dyskinesia 23 1 rec.
                            |__primary ciliary dyskinesia 24 1 rec.
                            |__primary ciliary dyskinesia 25 1 rec.
                            |__primary ciliary dyskinesia 26 1 rec.
                            |__primary ciliary dyskinesia 27 2 rec.
                            |__primary ciliary dyskinesia 28 1 rec.
                            |__primary ciliary dyskinesia 29 1 rec.
                            |__primary ciliary dyskinesia 30 1 rec.
                            |__primary ciliary dyskinesia 32 1 rec.
                            |__primary ciliary dyskinesia 33 1 rec.
                            |__primary ciliary dyskinesia 34 3 rec.
                            |__primary ciliary dyskinesia 35 1 rec.
                            |__primary ciliary dyskinesia 36 1 rec.
                            |__primary ciliary dyskinesia 37 3 rec.
                            |__primary ciliary dyskinesia 38
                            |__primary ciliary dyskinesia 39 1 rec.
                            |__primary ciliary dyskinesia 40 2 rec.
                            |__primary ciliary dyskinesia 41 1 rec.
                            |__primary ciliary dyskinesia 42 1 rec.
                            |__primary ciliary dyskinesia 43 9 rec.
                            |__primary ciliary dyskinesia 44
                            |__primary ciliary dyskinesia 45 4 rec.
                            |__Stromme syndrome
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