Term Name: | hereditary spherocytosis type 1 |
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Synonyms: | hereditary spherocytosis 1, HS1, SPH1 |
Definition: | A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. |
Ontology: | Human Disease [DOID:0110916] ( DOID:0110916 ) |