Rare Disease Library

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

6-phosphogluconate dehydrogenase deficiency

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

Aromatase deficiency

Congenital estrogen deficiency

Beta-mannosidosis

Beta-mannosidase deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome POR deficiency · POR deficiency

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

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 glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

Glycogen storage disease due to phosphoglucomutase deficiency

GSD due to phosphoglucomutase deficiency · GSD type 14

Glycogen storage disease due to phosphoglycerate mutase deficiency

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

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

P5N deficiency · UMPH1 deficiency

Lysosomal acid phosphatase deficiency

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency

3-phosphoserine phosphatase deficiency, prenatal form

Obesity due to prohormone convertase I deficiency

PCI deficiency

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

PGM1-CDG

CDG syndrome type It · CDG-It

Prolidase deficiency

Hyperimidodipeptiduria

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency

Triose phosphate-isomerase deficiency