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Ontology Browser

Term:
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 
primary CD59 deficiency 
renal tubular acidosis, distal, 4, with hemolytic anemia 
Rh deficiency syndrome 
southeast Asian ovalocytosis 
Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.
triosephosphate isomerase deficiency 

Synonyms
Exact Synonyms: Melanesian elliptocytosis ;   Melanesian ovalocytosis ;   ovalocytosis, SA type ;   sao ;   stomatocytic elliptocytosis
Broad Synonyms: hereditary ovalocytosis
Related Synonyms: elliptocytosis 4 ;   elliptocytosis, stomatocytic hereditary ;   he, stomatocytic ;   ovalocytosis, Malaysian-Melanesian-Filipino type ;   ovalocytosis, hereditary hemolytic
Alternate IDs: MONDO:0008165
Xrefs: GARD:16867 ;   ICD9:282.1 ;   MEDGEN:350649 ;   MIM:166900 ;   ORDO:98868 ;   SCTID:191169008 ;   UMLS:C1862322 ;   icd11.foundation:835618545
Definition Sources: Orphanet:98868

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