Disease Term Disease ID Gene Symbol References
Acatalasemia 926 CAT
Acatalasia C0268419 CAT 11001624, 11117918, 27604308, 25772105, 2308162, 1551654, 26074427
Hypocatalasemia C0752048 CAT 2308162, 26074427, 11001624, 11117918, 1551654
Catalase deficiency C2931868 CAT 11001624, 26074427, 11117918, 1551654, 2308162
Acatalasemia Japanese type C2936847 CAT 1551654, 2308162, 11001624, 26074427, 11117918
Acatalasemia Swiss type C2936848 CAT 2308162, 1551654, 11001624, 11117918, 26074427