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ONTOLOGY REPORT - ANNOTATIONS


Term:Joubert syndrome
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Accession:DOID:0050777 term browser browse the term
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. (DO)
Synonyms:exact_synonym: JBTS;   Joubert syndrome and related disorders
 narrow_synonym: ARMC9-RELATED JOUBERT SYNDROME
 primary_id: RDO:9001291
 xref: GARD:6802;   OMIM:PS213300;   ORDO:475
For additional species annotation, visit the Alliance of Genome Resources.


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Joubert syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G Armc9 armadillo repeat containing 9 JBrowse link 9 93,172,718 93,299,119 RGD:8554872
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G B9d2 B9 domain containing 2 JBrowse link 1 82,473,254 82,479,704 RGD:8554872
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Cluap1 clusterin associated protein 1 JBrowse link 10 11,847,058 11,878,792 RGD:8554872
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
G Cyb561a3 cytochrome b561 family, member A3 JBrowse link 1 226,620,933 226,642,246 RGD:8554872
G Exoc8 exocyst complex component 8 JBrowse link 19 57,647,305 57,649,794 RGD:8554872
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:8554872
RGD:12911208
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G LOC361646 similar to K04F10.2 JBrowse link 1 197,098,621 197,265,840 RGD:8554872
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:8554872
G Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 JBrowse link 2 88,384,796 88,414,012 RGD:8554872
G Mks1 Meckel syndrome, type 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G Rcor1 REST corepressor 1 JBrowse link 6 135,475,470 135,552,155 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:8554872
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:8554872
G Tmem138 transmembrane protein 138 JBrowse link 1 226,623,861 226,630,911 RGD:8554872
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:11067331
RGD:8554872
G Tmem231 transmembrane protein 231 JBrowse link 19 44,137,444 44,158,624 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:11561921
RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:8554872
G Zic1 Zic family member 1 JBrowse link 8 98,733,715 98,738,960 RGD:13592920
Joubert syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:8554872
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
G B9d2 B9 domain containing 2 JBrowse link 1 82,473,254 82,479,704 RGD:8554872
G C2cd3 C2 calcium-dependent domain containing 3 JBrowse link 1 165,382,279 165,480,088 RGD:8554872
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
G Cyb561a3 cytochrome b561 family, member A3 JBrowse link 1 226,620,933 226,642,246 RGD:8554872
G Exoc8 exocyst complex component 8 JBrowse link 19 57,647,305 57,649,794 RGD:8554872
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:8554872
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:8554872
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:7240710
RGD:8554872
RGD:11554173
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
G LOC361646 similar to K04F10.2 JBrowse link 1 197,098,621 197,265,840 RGD:8554872
G Micall2 MICAL-like 2 JBrowse link 12 16,988,013 17,016,794 RGD:8554872
G Mks1 Meckel syndrome, type 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:8554872
RGD:11554173
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:8554872
G Tmem138 transmembrane protein 138 JBrowse link 1 226,623,861 226,630,911 RGD:8554872
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
Joubert syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:7240710
RGD:8554872
RGD:11535965
RGD:11535963
Joubert Syndrome 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
Joubert Syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn1 tectonic family member 1 JBrowse link 12 39,790,948 39,828,215 RGD:8554872
RGD:7240710
RGD:13592920
Joubert syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C2cd6 C2 calcium dependent domain containing 6 JBrowse link 9 65,817,039 65,879,564 RGD:8554872
G Mpp4 membrane palmitoylated protein 4 JBrowse link 9 65,917,917 65,961,274 RGD:8554872
G Tmem237 transmembrane protein 237 JBrowse link 9 65,882,063 65,917,424 RGD:7240710
RGD:8554872
Joubert syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:7240710
RGD:8554872
Joubert Syndrome 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem138 transmembrane protein 138 JBrowse link 1 226,623,861 226,630,911 RGD:7240710
RGD:8554872
Joubert Syndrome 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:7240710
RGD:8554872
RGD:11537349
Joubert Syndrome 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn3 tectonic family member 3 JBrowse link 1 259,681,435 259,691,881 RGD:7240710
RGD:8554872
Joubert Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:7240710
RGD:8554872
RGD:11561919
Joubert syndrome 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem231 transmembrane protein 231 JBrowse link 19 44,137,444 44,158,624 RGD:7240710
RGD:8554872
Joubert syndrome 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arfgef1 ADP ribosylation factor guanine nucleotide exchange factor 1 JBrowse link 5 8,666,046 8,760,458 RGD:8554872
G Cspp1 centrosome and spindle pole associated protein 1 JBrowse link 5 8,761,293 8,876,205 RGD:7240710
RGD:8554872
Joubert Syndrome 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pde6d phosphodiesterase 6D JBrowse link 9 93,562,099 93,607,061 RGD:7240710
RGD:8554872
Joubert Syndrome 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC690035 similar to Protein KIAA0586 JBrowse link 6 93,562,775 93,667,857 RGD:7240710
RGD:8554872
Joubert syndrome 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:7240710
RGD:8554872
Joubert Syndrome 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep104 centrosomal protein 104 JBrowse link 5 171,262,278 171,294,560 RGD:8554872
RGD:7240710
RGD:13592920
Joubert Syndrome 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC361646 similar to K04F10.2 JBrowse link 1 197,098,621 197,265,840 RGD:8554872
RGD:7240710
RGD:13592920
Joubert Syndrome 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B9d1 B9 domain containing 1 JBrowse link 10 47,784,294 47,794,399 RGD:8554872
RGD:7240710
RGD:13592920
Joubert Syndrome 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mks1 Meckel syndrome, type 1 JBrowse link 10 75,149,814 75,160,481 RGD:8554872
RGD:7240710
RGD:13592920
Joubert syndrome 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
Joubert syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:1598905
RGD:8554872
RGD:11537395
RGD:11537390
RGD:11537388
RGD:11343130
RGD:11537387
RGD:1304518
RGD:11537346
RGD:7240710
G Jag1 jagged 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
Joubert syndrome 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Armc9 armadillo repeat containing 9 JBrowse link 9 93,172,718 93,299,119 RGD:8554872
RGD:7240710
RGD:13592920
Joubert syndrome 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep120 centrosomal protein 120 JBrowse link 18 48,658,495 48,720,570 RGD:8554872
RGD:7240710
RGD:13592920
Joubert syndrome 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sufu SUFU negative regulator of hedgehog signaling JBrowse link 1 266,143,766 266,241,742 RGD:8554872
RGD:7240710
RGD:13592920
Joubert syndrome 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
RGD:7240710
RGD:13592920
JOUBERT SYNDROME 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl3 ADP ribosylation factor like GTPase 3 JBrowse link 1 266,287,015 266,333,099 RGD:8554872
RGD:7240710
Joubert syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahi1 Abelson helper integration site 1 JBrowse link 1 16,478,127 16,601,769 RGD:7246903
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
RGD:7246903
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:11068164
Joubert syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11537352
RGD:7246903
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
Joubert syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11072184
Joubert syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:7240710
RGD:8554872
RGD:11537350
Joubert syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:7240710
RGD:8554872
RGD:11553937
Joubert syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:7240710
RGD:8554872
RGD:11535976
RGD:11062645
G Cep41 centrosomal protein 41 JBrowse link 4 57,966,783 58,006,931 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplane1 ciliogenesis and planar polarity effector 1 JBrowse link 2
2
57,274,175
57,444,373
57,350,003
57,472,465
RGD:8554872
RGD:7240710
nephronophthisis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:7240710
RGD:8554872
nephronophthisis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp423 zinc finger protein 423 JBrowse link 19 20,147,201 20,405,999 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      ciliopathy 191
        Joubert syndrome 58
          JOUBERT SYNDROME 35 1
          Joubert Syndrome 12 1
          Joubert Syndrome 13 1
          Joubert Syndrome 16 1
          Joubert Syndrome 17 1
          Joubert Syndrome 18 1
          Joubert Syndrome 2 1
          Joubert Syndrome 22 1
          Joubert Syndrome 23 1
          Joubert Syndrome 25 1
          Joubert Syndrome 26 1
          Joubert Syndrome 27 1
          Joubert Syndrome 28 1
          Joubert syndrome 1 31
          Joubert syndrome 10 1
          Joubert syndrome 14 3
          Joubert syndrome 15 1
          Joubert syndrome 20 1
          Joubert syndrome 21 2
          Joubert syndrome 24 1
          Joubert syndrome 29 1
          Joubert syndrome 3 4
          Joubert syndrome 30 1
          Joubert syndrome 31 1
          Joubert syndrome 32 1
          Joubert syndrome 33 1
          Joubert syndrome 4 3
          Joubert syndrome 5 2
          Joubert syndrome 6 1
          Joubert syndrome 7 1
          Joubert syndrome 8 1
          Joubert syndrome 9 5
          Joubert syndrome with orofaciodigital defect 1
          nephronophthisis 12 1
          nephronophthisis 14 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Multiple Abnormalities 1267
            ciliopathy 191
              Joubert syndrome 58
                JOUBERT SYNDROME 35 1
                Joubert Syndrome 12 1
                Joubert Syndrome 13 1
                Joubert Syndrome 16 1
                Joubert Syndrome 17 1
                Joubert Syndrome 18 1
                Joubert Syndrome 2 1
                Joubert Syndrome 22 1
                Joubert Syndrome 23 1
                Joubert Syndrome 25 1
                Joubert Syndrome 26 1
                Joubert Syndrome 27 1
                Joubert Syndrome 28 1
                Joubert syndrome 1 31
                Joubert syndrome 10 1
                Joubert syndrome 14 3
                Joubert syndrome 15 1
                Joubert syndrome 20 1
                Joubert syndrome 21 2
                Joubert syndrome 24 1
                Joubert syndrome 29 1
                Joubert syndrome 3 4
                Joubert syndrome 30 1
                Joubert syndrome 31 1
                Joubert syndrome 32 1
                Joubert syndrome 33 1
                Joubert syndrome 4 3
                Joubert syndrome 5 2
                Joubert syndrome 6 1
                Joubert syndrome 7 1
                Joubert syndrome 8 1
                Joubert syndrome 9 5
                Joubert syndrome with orofaciodigital defect 1
                nephronophthisis 12 1
                nephronophthisis 14 1
paths to the root