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DOID:0060063 - sideroblastic anemia 1
Disease Ontology 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.
Synonyms: X-linked sideroblastic anaemia, X-linked sideroblastic anemia, XLSA, sideroblastic anaemia 1,
Xenbase Genes : alas2
MONDO:0010419 - obsolete X-linked sideroblastic anemia |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
sideroblastic anemia (is_a)