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Collaborative Research
Diseases
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Metabolic disease
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Carbohydrate metabolism disease
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Inborn carbohydrate metabolic disorder
Disorder of glycolysis
rare
Identifiers
MONDO:0017688
Orphanet:308459
Part of
Inborn carbohydrate metabolic disorder
Inborn disorder of purine or pyrimidine metabolism
Pyruvate metabolism disorder
Subtypes
All diseases
Rare only
Disease
ID
Subtypes
Genes
Maturity-onset diabetes of the young
MONDO:0018911
15
Permanent neonatal diabetes mellitus
MONDO:0100164
9
Charcot-Marie-Tooth disease type 4G
MONDO:0011534
HK1
Glycogen storage disease VII
MONDO:0009295
PFKM
Glycogen storage disease due to aldolase A deficiency
MONDO:0012747
ALDOA
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
MONDO:0013587
LDHB
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
MONDO:0013047
LDHA
Glycogen storage disease due to muscle beta-enolase deficiency
MONDO:0013046
ENO3
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
MONDO:0010392
PGK1
Glycogen storage disease due to phosphoglycerate mutase deficiency
MONDO:0009865
PGAM2
Hemolytic anemia due to glucophosphate isomerase deficiency
MONDO:0013275
GPI
Hyperinsulinemic hypoglycemia, familial, 3
MONDO:0011236
GCK
Lactic aciduria due to D-lactic acid
MONDO:0009505
LDHD
Non-spherocytic hemolytic anemia due to hexokinase deficiency
MONDO:0009340
HK1
Pyruvate kinase deficiency of red cells
MONDO:0009950
PKLR
Triosephosphate isomerase deficiency
MONDO:0014221
TPI1
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