Term Name: | autosomal recessive pyridoxine-refractory sideroblastic anemia 3 |
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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 ) |