Rare Disease Library

Mucopolysaccharidosis type 10

Mucopolysaccharidosis type X · MSP type X

Autosomal recessive combined immunodeficiency due to IL6R deficiency

AR CID due to IL6R deficiency · Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

Hurler syndrome

Hurler disease · MPS1H

Hurler-Scheie syndrome

MPS1H/S · MPSIH/S

Hyaluronidase deficiency

MPS9 · MPSIX

Immunodeficiency due to selective anti-polysaccharide antibody deficiency

Specific anti-polysaccharide antibody deficiency · Selective anti-polysaccharide antibody deficiency

Mucopolysaccharidosis

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

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

Mucopolysaccharidosis type 3

MPS3 · MPSIII

Mucopolysaccharidosis type 4

MPS4 · MPSIV

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

Mucopolysaccharidosis-like plus disease

Sanfilippo syndrome type A

Mucopolysaccharidosis type IIIA · Heparan sulfamidase deficiency

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Sanfilippo syndrome type C

HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency

Sanfilippo syndrome type D

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

Scheie syndrome

MPS1S · MPSIS

Severe combined immunodeficiency due to DCLRE1C deficiency

SCID due to DCLRE1C deficiency · Severe combined immunodeficiency due to ARTEMIS deficiency

Sialidosis type 1

Cherry-red spot-myoclonus syndrome · Lipomucopolysaccharidosis