FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term dehydrated hereditary stomatocytosis 1 ID (Ontology) DOID:0111576 (Human Disease)
Definition A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3.
Also Known As "dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema" ; "pseudohyperkalemia edinburgh" ; "pseudohyperkalemia familial 1, due to red cell leak" (for all, see Synonyms field below)
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 Genes
 dehydrated hereditary stomatocytosis 1       2
 for disease ribbon | dehydrated hereditary stomatocytosis 1       2
 model of | dehydrated hereditary stomatocytosis 1       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease____________
hemolytic anemia                          |
 |__dehydrated hereditary stomatocytosis__|
                                          dehydrated hereditary stomatocytosis 1  2 rec.
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Is a autosomal dominant disease
dehydrated hereditary stomatocytosis
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Synonyms
  • "dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema" EXACT
    "pseudohyperkalemia edinburgh" EXACT
    "pseudohyperkalemia familial 1, due to red cell leak" EXACT
    "PSHK1" EXACT OMO:0003012
Secondary IDs
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MIM:194380