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Disease association ontology term - MONDO:0016828 - autosomal recessive sideroblastic anemia

Term summary

ID
MONDO:0016828
Name
autosomal recessive sideroblastic anemia
Ontology or CV name
Disease association
Definition
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.

Parents

Annotation

Disease association

MONDO:0008785 - sideroblastic anemia 2

References:

Genes:

MONDO:0014804 - sideroblastic anemia 3

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Genes: