Rare Disease Library

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

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

B4GALT1-CDG

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

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

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

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency

Phosphoserine aminotransferase deficiency, prenatal form

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency