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Disease Ontology Browser
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory