Rare Disease Library

Glycogen storage disease due to phosphoglycerate mutase deficiency

Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · GSD type 10

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

PHGDH deficiency, infantile/juvenile form

6-phosphogluconate dehydrogenase deficiency

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

GSD due to liver and muscle phosphorylase kinase deficiency · GSD type 9B

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Glycogen storage disease due to muscle beta-enolase deficiency

GSD due to muscle beta-enolase deficiency · GSDXIII

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

Glycogen storage disease due to muscle phosphofructokinase deficiency

GSD due to muscle phosphofructokinase deficiency · GSD type 7

Glycogen storage disease due to muscle phosphorylase kinase deficiency

GSD due to muscle phosphorylase kinase deficiency · GSD type 9D

Glycogen storage disease due to phosphoglucomutase deficiency

GSD due to phosphoglucomutase deficiency · GSD type 14

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

GSD due to phosphoglycerate kinase 1 deficiency · Glycogenosis due to phosphoglycerate kinase 1 deficiency

Hemolytic anemia due to diphosphoglycerate mutase deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Lysosomal acid phosphatase deficiency

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

3-phosphoglycerate dehydrogenase deficiency, prenatal form

OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency

OBSOLETE: PHGDH deficiency

PGM1-CDG

CDG syndrome type It · CDG-It

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency

Triose phosphate-isomerase deficiency