Rare Disease Library

Sanfilippo syndrome type A

Mucopolysaccharidosis type IIIA · Heparan sulfamidase deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Alkaline ceramidase 3 deficiency

Leukodystrophy due to alkaline ceramidase 3 deficiency · ACER3-related early childhood-onset progressive leukodystrophy

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase 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

Congenital enterocyte heparan sulfate deficiency

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Fumaric aciduria

Fumarase deficiency

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

GM2 gangliosidosis, AB variant

Hexosaminidase activator deficiency

Histidinemia

HAL deficiency · HIS deficiency

Hyaluronidase deficiency

MPS9 · MPSIX

Isolated sulfite oxidase deficiency

ISOD · Sulfocysteinuria

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Metachromatic leukodystrophy

Arylsulfatase A deficiency · MLD

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Multiple sulfatase deficiency

MSD · Austin disease

Prolidase deficiency

Hyperimidodipeptiduria

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Recessive X-linked ichthyosis

RXLI · Steroid sulfatase deficiency

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant