autosomal recessive pyridoxine-refractory sideroblastic anemia 3

Term ID

DOID:0080343

Synonyms

Definition

A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. https://www.omim.org/entry/616860?search=616860&highlight=616860

References

• OMIM:616860

Ontology

Human Disease   ( DOID:0080343 )