Search Ontology:
Human Disease

sideroblastic anemia 1

Term ID
DOID:0060063
Synonyms
  • sideroblastic anaemia 1
  • X-linked sideroblastic anaemia
  • X-linked sideroblastic anemia
  • XLSA
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. https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia
References
Ontology
Human Disease   ( DOID:0060063 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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