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Metadata
ID DOID:0060063
Name sideroblastic anemia 1
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
Xrefs

GARD:9456

OMIM:300751

Subsets

DO_rare_slim

Synonyms

sideroblastic anaemia 1 [EXACT]

X-linked sideroblastic anaemia [EXACT]

X-linked sideroblastic anemia [EXACT]

XLSA [EXACT]

Parent Relationships

is_a sideroblastic anemia

is_a X-linked recessive disease

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