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Ontology Browser

Term:
overhydrated hereditary stomatocytosis (EFO:MONDO:0008493)
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Parent Terms Term With Siblings Child Terms
abetalipoproteinemia 
congenital dyserythropoietic anemia +  
congenital nonspherocytic hemolytic anemia +  
cryohydrocytosis 
cutaneous porphyria 
dehydrated hereditary stomatocytosis +  
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 
elliptocytosis 2 
familial pseudohyperkalemia 
glycogen storage disease due to aldolase A deficiency 
glycogen storage disease VII 
hemolytic anemia due to adenylate kinase deficiency 
hemolytic anemia due to diphosphoglycerate mutase deficiency 
hemolytic anemia due to erythrocyte adenosine deaminase overproduction 
hemolytic anemia due to glutathione reductase deficiency 
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 
hereditary cryohydrocytosis with reduced stomatin 
hereditary spherocytosis +  
non-spherocytic hemolytic anemia due to hexokinase deficiency 
overhydrated hereditary stomatocytosis 
Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.
primary CD59 deficiency 
renal tubular acidosis, distal, 4, with hemolytic anemia 
Rh deficiency syndrome 
southeast Asian ovalocytosis 
triosephosphate isomerase deficiency 

Synonyms
Related Synonyms: OHS ;   OHST ;   Potassium sodium disorder of erythrocyte ;   stomatocytosis 1 ;   stomatocytosis I
Alternate IDs: MONDO:0008493
Xrefs: DOID:0111562 ;   GARD:4183 ;   MEDGEN:348876 ;   MESH:C566111 ;   MIM:185000 ;   ORDO:3203 ;   SCTID:722125003 ;   UMLS:C1861455 ;   icd11.foundation:595647587
Definition Sources: Orphanet:3203

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