autosomal recessive sideroblastic anemia
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0020099
inherited sideroblastic anemia
is_a
ARSA
exact
congenital sideroblastic anaemia
broad
congenital sideroblastic anemia
broad
sideroblastic anemia, autosomal recessive
exact
SPAPB2B4.02 SPAC823.10c