Term Name: | congenital nonspherocytic hemolytic anemia 5 |
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Synonyms: | |
Definition: | A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22. |
Ontology: | Human Disease [DOID:0051006] ( DOID:0051006 ) |