FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked sideroblastic anemia with ataxia ID (Ontology) DOID:0050554 (Human Disease)
Definition A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.
Also Known As "Anemia sideroblastic and spinocerebellar ataxia" ; "Anemia, sideroblastic, spinocerebellar ataxia" ; "X-linked sideroblastic anaemia and ataxia" (for all, see Synonyms field below)
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 Genes
 X-linked sideroblastic anemia with ataxia       1
 for disease ribbon | X-linked sideroblastic anemia with ataxia       1
 model of | X-linked sideroblastic anemia with ataxia       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__
microcytic anemia               |
 |__sideroblastic anemia________|
                                X-linked sideroblastic anemia with ataxia  1 rec.
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Is a X-linked recessive disease
sideroblastic anemia
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Synonyms
  • "Anemia sideroblastic and spinocerebellar ataxia" EXACT
    "Anemia, sideroblastic, spinocerebellar ataxia" EXACT
    "X-linked sideroblastic anaemia and ataxia" EXACT
    "X-linked sideroblastic anaemia with ataxia" EXACT
    "X-linked sideroblastic anemia and ataxia" EXACT
Secondary IDs
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MIM:301310