Rare Disease Library

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

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

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease