Term Name: dehydrated hereditary stomatocytosis 1
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 )

Relationships
is a type of: autosomal dominant disease dehydrated hereditary stomatocytosis