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Human Disease

overhydrated hereditary stomatocytosis

Term ID
DOID:0111562
Synonyms
  • 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. (2)
References
Ontology
Human Disease   ( DOID:0111562 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations