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DO Term : dehydrated hereditary stomatocytosis 1 [DOID:0111576] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
pseudohyperkalemia familial 1, due to red cell leak,
pseudohyperkalemia edinburgh,
194380,
dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema,
OMIM:194380,
PSHK1

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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