Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

12 matching diseasesClear search ×

Scheie syndrome

MPS1S · MPSIS

ORPHA:93474

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

ORPHA:293181

Hurler syndrome

Hurler disease · MPS1H

ORPHA:93473

Hurler-Scheie syndrome

MPS1H/S · MPSIH/S

ORPHA:93476

Hyaluronidase deficiency

MPS9 · MPSIX

ORPHA:67041

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

ORPHA:579

Mucopolysaccharidosis type 10

Mucopolysaccharidosis type X · MSP type X

ORPHA:662216

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

ORPHA:580

Mucopolysaccharidosis type 3

MPS3 · MPSIII

ORPHA:581

Mucopolysaccharidosis type 4

MPS4 · MPSIV

ORPHA:582

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

ORPHA:583

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

ORPHA:584