| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Methylmalonic aciduria and homocystinuria | MONDO:0016826 | 6 | |
| Homocystinuria without methylmalonic aciduria | MONDO:0018964 | 4 | |
| Vitamin B12- and folate-independent constitutional megaloblastic anemia | MONDO:0020112 | 3 | |
| Imerslund-Grasbeck syndrome | MONDO:0009853 | 2 | |
| Hereditary intrinsic factor deficiency | MONDO:0009852 | 1 | CBLIF |
| IRIDA syndrome | MONDO:0008788 | TMPRSS6 | |
| Aceruloplasminemia | MONDO:0011426 | CP | |
| Atransferrinemia | MONDO:0008846 | TF | |
| Constitutional megaloblastic anemia with severe neurologic disease | MONDO:0013456 | DHFR | |
| Formiminoglutamic aciduria | MONDO:0009240 | FTCD | |
| Hereditary folate malabsorption | MONDO:0009238 | SLC46A1 | |
| Microcytic anemia with liver iron overload | MONDO:0008787 | SLC11A2 | |
| Severe congenital hypochromic anemia with ringed sideroblasts | MONDO:0014094 | STEAP3 | |
| Transcobalamin II deficiency | MONDO:0010149 | TCN2 |
Including projects on subtypes.
No projects yet.