Disease Term Disease ID Gene Symbol References
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 308425 MCEE
Methylmalonic Aciduria, mut(0) Type C1855115 MMUT
Methylmalonic Aciduria, mut(-) Type C1855116 MMUT
Methylmalonic aciduria cblB type C1855102 MVK 23707710
MMAB 24516753, 12471062, 29039164, 24059531, 17410422, 20696242, 17957493, 16410054, 22614770, 19625202, 20549364, 18251506, 21048060, 27604308, 23674520, 17948227, 23707710, 15781192, 20556797, 21604717, 29197662, 22695176, 17176040, 16439175, 15044458
Methylmalonic Aciduria, CblD Type, Variant 2 C1848554 MMADHC
Methylmalonic aciduria cblA type C1855109 MMAA 15308131, 17957493, 27604308, 16247646, 28497574, 25525159, 15523652, 21545677, 27591164, 15781192, 23026888, 12438653, 26270765, 20876572
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT C3150900 CD320 20524213