Disease

dehydrated hereditary stomatocytosis 1

Name: dehydrated hereditary stomatocytosis 1
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0111576 dehydrated hereditary stomatocytosis 1 A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. PSHK1 pseudohyperkalemia edinburgh dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema pseudohyperkalemia familial 1, due to red cell leak

Definition

A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3.

Synonyms

dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
pseudohyperkalemia edinburgh

Cross References

MIM:194380

Parent Terms

autosomal dominant disease
dehydrated hereditary stomatocytosis

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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