Rare Disease Library

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

Alpha-N-acetylgalactosaminidase deficiency type 3

NAGA deficiency type 3 · Schindler disease type 3

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Metachromatic leukodystrophy

Arylsulfatase A deficiency · MLD

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

Mucolipidosis type II

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

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Multiple sulfatase deficiency

MSD · Austin disease

Recessive X-linked ichthyosis

RXLI · Steroid sulfatase deficiency

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency