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DO Term : sideroblastic anemia 1 [DOID:0060063] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 300751,
  • XLSA,
  • X-linked sideroblastic anemia,
  • GARD:9456,
  • X-linked sideroblastic anaemia,
  • OMIM:300751,
  • sideroblastic anaemia 1
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Ontology Term --> Direct parents