Disease Term Disease ID Gene Symbol Classification References Source
SPINOCEREBELLAR ATAXIA, X-LINKED 1 ATP2B3 Unknown CTD Disgenet HPO
GJB1 Unknown Disgenet
SPINOCEREBELLAR ATAXIA, X-LINKED 5 ATP2B3 Unknown Disgenet
SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH OR WITHOUT SIDEROBLASTIC ANEMIA ABCB7 Unknown HPO