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Ontology Browser
Term:
hemolytic anemia due to diphosphoglycerate mutase deficiency (EFO:MONDO:0009113)
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
2-hydroxyglutaric aciduria +  
abdominal obesity-metabolic syndrome +   
abetalipoproteinemia 
achondrogenesis type IB 
anemia, nonspherocytic hemolytic, due to G6PD deficiency 
apolipoprotein c-III deficiency 
aromatase excess syndrome 
ASAH1-related disorders +  
atelosteogenesis type II 
autosomal dominant dopa-responsive dystonia +  
autosomal dominant myoglobinuria 
autosomal dominant proximal renal tubular acidosis 
autosomal recessive proximal renal tubular acidosis 
chondrocalcinosis 2 
chondrodysplasia with joint dislocations, gPAPP type 
congenital disorder of deglycosylation +  
congenital disorder of glycosylation +  
congenital dyserythropoietic anemia +  
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 
congenital nonspherocytic hemolytic anemia +  
cryohydrocytosis 
cutaneous porphyria 
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 
diastrophic dysplasia 
disorder of lysosomal-related organelles +  
disorder of metabolite absorption and transport +   
disorder of peptide and amine metabolism +  
DNA repair deficiency +  
Ehlers-Danlos syndrome, spondylodysplastic type +  
elliptocytosis 2 
familial hypocalciuric hypercalcemia +  
familial hypoparathyroidism +  
familial intrahepatic cholestasis +  
familial pseudohyperkalemia 
ferro-cerebro-cutaneous syndrome 
fish eye disease 
gluthathione peroxidase deficiency 
glycogen storage disease due to aldolase A deficiency 
glycogen storage disease VII 
glycoprotein metabolism disease +  
hemolytic anemia due to adenylate kinase deficiency 
hemolytic anemia due to diphosphoglycerate mutase deficiency 
A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
hemolytic anemia due to erythrocyte adenosine deaminase overproduction 
hemolytic anemia due to glucophosphate isomerase deficiency 
hemolytic anemia due to glutathione reductase deficiency 
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 
hereditary amyloidosis +   
hereditary cryohydrocytosis with reduced stomatin 
hereditary lipodystrophy +  
hereditary recurrent myoglobinuria +  
hereditary spherocytosis +  
hypercalcemia, infantile +  
hypermanganesemia with dystonia +  
hypertriglyceridemia 2 
hypoalphalipoproteinemia, primary, 1 
hypophosphatasia +  
hypotonia-failure to thrive-microcephaly syndrome 
inborn aminoacylase deficiency +  
inborn carbohydrate metabolic disorder +   
inborn disorder of amino acid and other organic acid metabolism +  
inborn disorder of amino acid metabolism +   
inborn disorder of biogenic amine metabolism and transport +  
inborn disorder of energy metabolism +  
inborn disorder of porphyrin metabolism +  
inborn disorder of purine or pyrimidine metabolism +  
inborn glycerol kinase deficiency +  
inborn metal metabolism disorder +   
inherited lipid metabolism disorder +   
inherited thyroid metabolism disease +  
lysosomal storage disease +   
monogenic diabetes +  
mucopolysaccharidosis or mucopolysaccharidosis-like disorder +  
multiple epiphyseal dysplasia type 4 
NAD(P)HX dehydratase deficiency 
neurodegeneration with brain iron accumulation +  
non-spherocytic hemolytic anemia due to hexokinase deficiency 
normophosphatemic familial tumoral calcinosis 
overhydrated hereditary stomatocytosis 
peroxisomal disease +  
plasma protein metabolism disease +   
polysyndactyly 4 +  
primary CD59 deficiency 
pyruvate kinase deficiency of red cells 
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 
renal tubular acidosis, distal, 4, with hemolytic anemia 
Rh deficiency syndrome 
southeast Asian ovalocytosis 
spondyloepimetaphyseal dysplasia, PAPSS2 type 
spondyloepiphyseal dysplasia with congenital joint dislocations 
sulfation-related bone disorder 
sulfide quinone oxidoreductase deficiency 
synucleinopathy +   
thiopurine metabolic disease +  
triosephosphate isomerase deficiency 
tumoral calcinosis, hyperphosphatemic, familial, 2 
tumoral calcinosis, hyperphosphatemic, familial, 3 
uridine-cytidineuria 
vitamin metabolic disorder +  
Waldenstrom macroglobulinemia  

Synonyms
Exact Synonyms: diphosphoglycerate phosphatase deficiency ;   erythrocytosis, familial, 8
Related Synonyms: BPGM deficiency ;   DPGM deficiency ;   bisphosphoglycerate mutase deficiency ;   bisphosphoglyceromutase deficiency ;   diphosphoglycerate mutase deficiency of erythrocyte
Alternate IDs: MONDO:0009113
Xrefs: DOID:0111630 ;   GARD:1874 ;   MEDGEN:489898 ;   MIM:222800 ;   NCI:C131638 ;   ORDO:714 ;   UMLS:C1291620
Definition Sources: NCIT:C131638

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