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Human Disease
sideroblastic anemia 1
- Term ID
- DOID:0060063
- Synonyms
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- sideroblastic anaemia 1
- X-linked sideroblastic anaemia
- X-linked sideroblastic anemia
- XLSA
- Definition
- A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia
- References
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- GARD:9456
- MIM:300751
- Ontology
- Human Disease ( DOID:0060063 )
- is a type of
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Genes Involved
Zebrafish Models