X-linked sideroblastic anemia with ataxia
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.
MONDO:0020721
X-linked sideroblastic anemia 1
excluded_subClassOf
MONDO:0016612
X-linked cerebellar ataxia
is_a
MONDO:0020099
inherited sideroblastic anemia
is_a
MONDO:0044970
mitochondrial disease
is_a
ASAT
exact
Pagon Bird Detter syndrome
related
Pagon-Bird-Detter syndrome
exact
X-linked sideroblastic Anaemia and ataxia
related
X-linked sideroblastic Anemia and ataxia
related
X-linked sideroblastic anaemia and spinocerebellar ataxia
related
X-linked sideroblastic anaemia with spinocerebellar ataxia
exact
X-linked sideroblastic anemia with ataxia
exact
X-linked sideroblastic anemia with spinocerebellar ataxia
exact
XLSA-A
exact
Xlsa-A
related
anaemia sideroblastic and spinocerebellar ataxia
exact
anemia, Sex-linked hypochromic Siderobla
related
anemia, sideroblastic, and spinocerebellar ataxia
related
anemia, sideroblastic, with ataxia, X-linked recessive
exact
sideroblastic anaemia with spinocerebellar ataxia
exact
sideroblastic anemia with spinocerebellar ataxia
exact
SPAC15A10.01