dehydrated hereditary stomatocytosis 1 (DOID:0111576)
Alliance: disease page
Synonyms: dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema; pseudohyperkalemia edinburgh; pseudohyperkalemia familial 1, due to red cell leak; PSHK1
Alt IDs: OMIM:194380
Definition: A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3.