Disease Term Disease ID Gene Symbol References
Methylmalonic acidemia with homocystinuria C1848561 PRDX1
MMACHC 27252276, 17853453, 25687216, 24889031, 16311595, 11261516, 25398587, 19700356, 22447314, 21497120, 29042959, 24599607, 25894566, 30204970, 27324188, 20631720, 26412180, 22642810, 18848477, 28693988, 16714133, 30157807, 19914430, 26270766, 23954310, 25689098, 28327205, 27751223, 19760748, 27383490, 20219402, 18164228, 23837176, 16963011, 27604308, 29294253, 26149271, 24210589, 20610126, 26283149, 26658511, 26825575, 18245139, 25388550, 19370762, 22560872, 18779575, 17874135, 21228398, 23825108, 23580368, 25772322, 25809485, 21835369, 24126030, 28218226, 20924684, 17768669, 19767224
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC C4693974 PRDX1
MMACHC 18164228, 26149271, 28693988, 16311595, 23580368, 16963011, 21497120, 30157807, 18779575, 19700356, 24889031
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE C3553915 ABCD4 22922874, 25234635, 23141461
ABHD12
Methylmalonic Aciduria and Homocystinuria, CblD Type C1848552 MMADHC 18385497, 24722857, 22156578, 26483544, 27604308
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder) C1848578 LMBRD1 24664876, 21303734, 19136951, 26997947, 27604308
Methylmalonic acidemia with homocystinuria, type cblJ 369955 ABCD4
Methylmalonic acidemia with homocystinuria, type cblX 369962 HCFC1
Methylmalonic acidemia with homocystinuria, type cblC 79282 MMACHC
Methylmalonic acidemia with homocystinuria, type cblD 79283 MMADHC
Methylmalonic acidemia with homocystinuria type cblF 79284 LMBRD1