| | Disease name | Disease category |
| GCSD | H00668 | Anemia due to disorders of glutathione metabolism | Hematologic disease |
| GCSD/GSD | H00668 | Anemia due to disorders of glutathione metabolism | Hematologic disease |
| H02312 | Glutathione synthetase deficiency | Inherited metabolic disorder |
| SMDS | H01825 | Spondylometaphyseal dysplasia, Sedaghatian type | Congenital malformation |
| XLID | H00480 | X-linked intellectual developmental disorder | Mental and behavioural disorder |
| ACP | H02206 | Aceruloplasminemia | Nervous system disease |
| Atransferrinemia | H01145 | Atransferrinemia | Cardiovascular disease |
| AHMIO2 | H01196 | Hypochromic microcytic anemia | Hematologic disease |
| AHMIO1 | H01196 | Hypochromic microcytic anemia | Hematologic disease |
| HMNDYT2 | H01938 | Hypermanganesemia with dystonia | Hematologic disease |
| HFE4 | H00211 | Hemochromatosis | Inherited metabolic disorder |
| HFE5 | H00211 | Hemochromatosis | Inherited metabolic disorder |
| NBIA9 | H00833 | Neurodegeneration with brain iron accumulation | Nervous system disease |
| NBIA3/NF | H00833 | Neurodegeneration with brain iron accumulation | Nervous system disease |