X-linked sideroblastic anemia with ataxia

Term ID

DOID:0050554

Synonyms

• Anemia sideroblastic and spinocerebellar ataxia
• Anemia, sideroblastic, spinocerebellar ataxia
• X-linked sideroblastic anaemia and ataxia
• X-linked sideroblastic anaemia with ataxia
• X-linked sideroblastic anemia and ataxia

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. https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia

References

• OMIM:301310

Ontology

Human Disease   ( DOID:0050554 )