Term Name: autosomal recessive pyridoxine-refractory sideroblastic anemia 3
Synonyms:
Definition: A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.
Ontology: Human Disease [DOID:0080343]   ( DOID:0080343 )

Relationships
is a type of: autosomal recessive disease sideroblastic anemia