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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:X-linked sideroblastic anemia with ataxia
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Accession:EFO:MONDO:0010524 term browser browse the term
Definition:A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
Synonyms:exact_synonym: ASAT;   X-linked sideroblastic anaemia with spinocerebellar ataxia;   X-linked sideroblastic anemia with spinocerebellar ataxia;   anaemia sideroblastic and spinocerebellar ataxia;   anemia, sideroblastic, with ataxia, X-linked recessive;   sideroblastic anaemia with spinocerebellar ataxia;   sideroblastic anemia with spinocerebellar ataxia
 related_synonym: Pagon Bird Detter syndrome;   X-linked sideroblastic Anaemia and ataxia;   X-linked sideroblastic Anemia and ataxia;   X-linked sideroblastic anaemia and spinocerebellar ataxia;   X-linked sideroblastic anemia and spinocerebellar ataxia;   Xlsa-A;   anemia, Sex-linked hypochromic Siderobla;   anemia, sideroblastic, and spinocerebellar ataxia
 alt_id: MONDO:0010524
 xref: DOID:0050554;   DOID:0060064;   GARD:668;   MEDGEN:335078;   MESH:C536358;   MIM:301310;   ORDO:2802;   SCTID:719816006;   UMLS:C1845028


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          mitochondrial disease 0
            X-linked sideroblastic anemia with ataxia 0
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            central nervous system disease 0
              brain disease 0
                cerebellar disorder 0
                  cerebellar ataxia 0
                    hereditary cerebellar ataxia 0
                      X-linked cerebellar ataxia 0
                        X-linked sideroblastic anemia with ataxia 0
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