dehydrated hereditary stomatocytosis 1

Summary

DOID:0111576 - dehydrated hereditary stomatocytosis 1

Disease Ontology 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, pseudohyperkalemia familial 1, due to red cell leak, PSHK1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: piezo1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), dehydrated hereditary stomatocytosis (is_a)