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Ontology Browser

Term:
hemolytic anemia due to erythrocyte adenosine deaminase overproduction (EFO:MONDO:0020458)
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Parent Terms Term With Siblings Child Terms
abetalipoproteinemia 
adenine phosphoribosyltransferase deficiency 
adenosine monophosphate deaminase deficiency 
adenylosuccinate lyase deficiency 
AICA-ribosiduria 
anemia due to erythrocyte enzyme disorder +  
Charcot-Marie-Tooth disease X-linked recessive 5 
congenital dyserythropoietic anemia +  
congenital nonspherocytic hemolytic anemia +  
cryohydrocytosis 
cutaneous porphyria 
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 
developmental and epileptic encephalopathy, 35 
elliptocytosis 2 
familial juvenile hyperuricemic nephropathy type 1 
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 an erythrocyte nucleotide metabolism disorder +  
hemolytic anemia due to diphosphoglycerate mutase deficiency 
hemolytic anemia due to erythrocyte adenosine deaminase overproduction 
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.
hemolytic anemia due to glutathione reductase deficiency 
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies +  
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 
hereditary cryohydrocytosis with reduced stomatin 
hereditary spherocytosis +  
hereditary xanthinuria +  
hypoxanthine-guanine phosphoribosyltransferase deficiency +  
mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 
non-spherocytic hemolytic anemia due to hexokinase deficiency 
overhydrated hereditary stomatocytosis 
phosphoribosylpyrophosphate synthetase superactivity 
primary CD59 deficiency 
purine nucleoside phosphorylase deficiency 
renal tubular acidosis, distal, 4, with hemolytic anemia 
Rh deficiency syndrome 
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 
southeast Asian ovalocytosis 
triosephosphate isomerase deficiency 

Synonyms
Exact Synonyms: adenosine deaminase, elevated, hemolytic anaemia due to ;   adenosine deaminase, elevated, hemolytic anemia due to
Alternate IDs: MONDO:0020458
Xrefs: GARD:19669 ;   MEDGEN:400240 ;   MESH:C566314 ;   MIM:102730 ;   MIM:301083 ;   ORDO:99138 ;   UMLS:C1863235 ;   icd11.foundation:1200845933
Definition Sources: Orphanet:99138

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