All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05109 JBTS Joubert syndrome (JBTS) - - 655 602 AHI1, ARL3, ARMC9, B9D1, CEP104, CEP290, MKS1, TCTN2, TMEM67 - -
05707 JBTS35 Joubert syndrome, type 35 (JBTS35) 618161 AR - - ARL3 - -
00112 RP retinitis pigmentosa (RP) 268000 - 1159 897 ADCK4, ARL3, BEST1, CC2D2A, CNGB1, DHDDS, EYS, HKDC1, IDH3A, IMPG1, KIF3B, NR2E3, POC5, PRPF8, RNU4-2, RNU6-1, RNU6-2, RNU6-8, RNU6-9, SLC7A14, SMG8, TMEM216 - -
05706 RP83 retinitis pigmentosa, type 83 (RP83) 618173 AD - - ARL3 - -
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