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Disease Ontology Browser
sideroblastic anemia 1 (DOID:0060063)
Alliance: disease page
Synonyms: sideroblastic anaemia 1; X-linked sideroblastic anaemia; X-linked sideroblastic anemia; XLSA
Alt IDs: OMIM:300751
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory