| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Myopathy, lactic acidosis, and sideroblastic anemia | MONDO:0000863 | 3 | |
| Autosomal recessive sideroblastic anemia | MONDO:0016828 | 2 | |
| X-linked sideroblastic anemia 1 | MONDO:0020721 | ALAS2 | |
| X-linked sideroblastic anemia with ataxia | MONDO:0010524 | ABCB7 | |
| Anemia, sideroblastic, 5 | MONDO:0030436 | ||
| Autosomal dominant sideroblastic anemia | MONDO:0008422 | HSPA9 | |
| Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | MONDO:0014487 | TRNT1 | |
| Severe congenital hypochromic anemia with ringed sideroblasts | MONDO:0014094 | STEAP3 |
Rare disease
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