Term Name: | hereditary spherocytosis type 5 |
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Synonyms: | hereditary spherocytosis 5, HS5, SPH5 |
Definition: | A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. |
Ontology: | Human Disease [DOID:0110920] ( DOID:0110920 ) |