Term Name: | dehydrated hereditary stomatocytosis 1 |
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Synonyms: | dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema, pseudohyperkalemia edinburgh, pseudohyperkalemia familial 1, due to red cell leak, PSHK1 |
Definition: | A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. |
Ontology: | Human Disease [DOID:0111576] ( DOID:0111576 ) |