Terminology Service for NFDI4Health

X-linked sideroblastic anemia with ataxia

Go to external page http://purl.obolibrary.org/obo/DOID_0050554


A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. [ http://purl.obolibrary.org/obo/ECO_0007637 ]

Term info

Label

X-linked sideroblastic anemia with ataxia

Synonyms
  • Anemia sideroblastic and spinocerebellar ataxia
  • X-linked sideroblastic anaemia and ataxia
  • X-linked sideroblastic anaemia with ataxia
  • X-linked sideroblastic anemia and ataxia
database cross reference
comment

OMIM mapping confirmed by DO. [SN].

has alternative id

DOID:0060064

has obo namespace

disease_ontology

id

DOID:0050554