All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03735 AHC2 hemiplegia, alternating, of childhood, type 2 (AHC2) 614820 AD 1 1 ATP1A3 - -
04368 CAPOS CAPOS syndrome (CAPOS) 601338 AD 1 1 ATP1A3 - -
06906 DEE encephalopathy, developmental and epileptic - - 269 261 ATP1A3, CELF2, DALRD3, DNM1, GAD1, GLUL, GNAO1, KCNA2, KCNH5, NEUROD2, NTRK2, TMEM63B - -
07065 DEE99 encephalopathy, developmental and epileptic, type 99 619606 AD - - ATP1A3 - -
01297 DYT12 dystonia, type 12 (DYT-12) 128235 AD - - ATP1A3 - -
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