dehydrated hereditary stomatocytosis 2

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Summary

Literature (0)

DOID:0111577 - dehydrated hereditary stomatocytosis 2

Disease Ontology Definition:A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31.

Synonyms: desiccytosis Gardos, xerocytosis Gardos,

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

: kcnn4

Other Model Organisms: AGR, 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)