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: X-linked sideroblastic anaemia, X-linked sideroblastic anemia, XLSA, sideroblastic anaemia 1,

Echinobase Genes :


OMIM:

MIM:300751 - anemia, sideroblastic, x-linked; xlsa

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee