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hereditary spherocytosis type 3
Summary
- Synonym
-
- HS3
- SPH3
- hereditary spherocytosis 3
- Definition
- A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1.
- Super Class
- autosomal recessive disease hereditary spherocytosis
External Links
- Disease Ontology
- DOID:0110918
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
