overhydrated hereditary stomatocytosis

Summary

DOID:0111562 - overhydrated hereditary stomatocytosis

Disease Ontology Definition:A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3.

Synonyms: OHS, potassium sodium disorder of erythrocyte, stomatocytosisIOHST

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

: rhag, stom, rhagl

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), macrocytic anemia (is_a)