FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term overhydrated hereditary stomatocytosis ID (Ontology) DOID:0111562 (Human Disease)
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.
Also Known As "OHS" ; "potassium sodium disorder of erythrocyte" ; "stomatocytosisIOHST"
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 Genes
 overhydrated hereditary stomatocytosis       2
 for disease ribbon | overhydrated hereditary stomatocytosis       2
 model of | overhydrated hereditary stomatocytosis       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
anemia                          |
 |__macrocytic anemia___________|
                                overhydrated hereditary stomatocytosis  2 rec.
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Is a autosomal dominant disease
macrocytic anemia
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Synonyms
  • "OHS" EXACT OMO:0003012
    "potassium sodium disorder of erythrocyte" EXACT
    "stomatocytosisIOHST" EXACT
Secondary IDs
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GARD:4183
MIM:185000
ORDO:3203