Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
hemolytic anemia due to glutathione reductase deficiency (EFO:MONDO:0019531)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
5-oxoprolinase deficiency 
abetalipoproteinemia 
congenital dyserythropoietic anemia +  
congenital nonspherocytic hemolytic anemia +  
cryohydrocytosis 
cutaneous porphyria 
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 
elliptocytosis 2 
familial pseudohyperkalemia 
gamma-glutamyl transpeptidase deficiency 
gamma-glutamylcysteine synthetase deficiency 
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 
Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes.
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 
hereditary cryohydrocytosis with reduced stomatin 
hereditary spherocytosis +  
inherited glutathione synthetase deficiency +  
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 
spondylometaphyseal dysplasia, Sedaghatian type 
triosephosphate isomerase deficiency 

Synonyms
Alternate IDs: MONDO:0019531 ;   MONDO:0032856
Xrefs: GARD:16784 ;   MEDGEN:1684855 ;   MIM:618660 ;   ORDO:90030 ;   UMLS:C5231513
Definition Sources: Orphanet:90030

paths to the root