Rare Disease Library

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ALG3-CDG

CDG syndrome type Id · CDG-Id

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ALG9-CDG

CDG syndrome type IL · CDG1L

Carnitine palmitoyltransferase II deficiency

CPT2 · CPTII

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

Erythrocyte galactose epimerase deficiency

Erythrocyte GALE deficiency · Erythrocyte GALE-D

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Formiminoglutamic aciduria

FTCD deficiency · Formiminotransferase cyclodeaminase deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

Gamma-glutamyl transpeptidase deficiency

Glutathionuria · Gamma-glutamyl transferase deficiency

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Gyrate atrophy of choroid and retina

HOGA · Hyperornithinemia

Hypermethioninemia due to glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Lipoyl transferase 1 deficiency

Lipoyl transferase 2 deficiency

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency