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overhydrated hereditary stomatocytosis
Summary
- Synonym
-
- OHS
- potassium sodium disorder of erythrocyte
- stomatocytosisIOHST
- Definition
- A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3.
- Super Class
- autosomal dominant disease macrocytic anemia
External Links
- Disease Ontology
- DOID:0111562
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
