overhydrated hereditary stomatocytosis

Summary
Synonym
  • OHS
  • potassium sodium disorder of erythrocyte
  • stomatocytosisIOHST
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.
Super Class
autosomal dominant disease macrocytic anemia
Disease Ontology
DOID:0111562
Mondo Disease Ontology
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6005 RHAG Rh associated glycoprotein
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q02094 Ammonium transporter Rh type A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025