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DOID:0111576 - dehydrated hereditary stomatocytosis 1
Disease Ontology Definition:A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3.
Synonyms: PSHK1, dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema, pseudohyperkalemia edinburgh, pseudohyperkalemia familial 1, due to red cell leak,
Echinobase Genes
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| MIM:194380 - dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; dhs |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a)