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Summary Literature (0)
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: sideroblastic anaemia 1, X-linked sideroblastic anaemia, X-linked sideroblastic anemia, XLSA

Xenbase Genes : alas2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010419 - obsolete X-linked sideroblastic anemia

MIM:
MIM:300751 - ANEMIA, SIDEROBLASTIC, 1; SIDBA1

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), X-linked recessive disease (is_a)