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Metadata
ID DOID:0111562
Name overhydrated hereditary stomatocytosis
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 RHAG on chromosome 6p12.3.
https://www.ncbi.nlm.nih.gov/pubmed/18931342, https://www.ncbi.nlm.nih.gov/pubmed/21849667
Xrefs

GARD:4183

OMIM:185000

ORDO:3203

Synonyms

OHS [EXACT]

potassium sodium disorder of erythrocyte [EXACT]

stomatocytosisIOHST [EXACT]

Parent Relationships

is_a macrocytic anemia

is_a autosomal dominant disease

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