| | Disease name | Disease category |
IFD | H01277 | Vitamin B12 deficiency anaemia | Hematologic disease |
IGS1 | H01277 | Vitamin B12 deficiency anaemia | Hematologic disease |
IGS2 | H01277 | Vitamin B12 deficiency anaemia | Hematologic disease |
MAHCF | H02221 | Methylmalonic aciduria and homocystinuria | Inherited metabolic disorder |
MAHCJ | H02221 | Methylmalonic aciduria and homocystinuria | Inherited metabolic disorder |
DFNA77 | H00604 | Deafness, autosomal dominant | Nervous system disease |
TCdeficiency | H01190 | Transcobalamin II deficiency | Inherited metabolic disorder |
MMATCblR | H00174 | Methylmalonic aciduria | Inherited metabolic disorder |
MAHCC | H02221 | Methylmalonic aciduria and homocystinuria | Inherited metabolic disorder |
MAHCX | H02222 | Methylmalonic acidemia and hyperhomocysteinemia, cblX type | Inherited metabolic disorder |
MAHCD | H02221 | Methylmalonic aciduria and homocystinuria | Inherited metabolic disorder |
MMAcblB | H00174 | Methylmalonic aciduria | Inherited metabolic disorder |
MMAcblA | H00174 | Methylmalonic aciduria | Inherited metabolic disorder |
MMAmut | H00174 | Methylmalonic aciduria | Inherited metabolic disorder |
HMAG/NTDFS | H00183 | Homocystinuria | Inherited metabolic disorder |
| H00262 | Neural tube defects, folate-sensitive | Congenital malformation |
HMAE/NTDFS | H00183 | Homocystinuria | Inherited metabolic disorder |
| H00262 | Neural tube defects, folate-sensitive | Congenital malformation |