Rare Disease Library

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

Acatalasemia

Catalase deficiency

Aromatase deficiency

Congenital estrogen deficiency

Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Hyaluronidase 2 deficiency · Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome

Isolated succinate-CoQ reductase deficiency

Isolated mitochondrial respiratory chain complex II deficiency · Isolated succinate-coenzyme Q reductase deficiency

Isolated sulfite oxidase deficiency

ISOD · Sulfocysteinuria

Metachromatic leukodystrophy

Arylsulfatase A deficiency · MLD

Metachromatic leukodystrophy, adult form

Arylsulfatase A deficiency, adult form · MLD, adult form

Metachromatic leukodystrophy, juvenile form

Arylsulfatase A deficiency, juvenile form · MLD, juvenile form

Metachromatic leukodystrophy, late infantile form

Arylsulfatase A deficiency, late infantile form · MLD, late infantile form

Mevalonate kinase deficiency

MKD

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Multiple sulfatase deficiency

MSD · Austin disease

Recessive X-linked ichthyosis

RXLI · Steroid sulfatase deficiency

Sanfilippo syndrome type A

Mucopolysaccharidosis type IIIA · Heparan sulfamidase deficiency

Sanfilippo syndrome type D

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