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"

10 matching diseasesClear search ×

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

ORPHA:583

Mucopolysaccharidosis type 6, rapidly progressing

Arylsulfatase B deficiency, rapidly progressing · MPS6, rapidly progressing

ORPHA:276212

Mucopolysaccharidosis type 6, slowly progressing

Arylsulfatase B deficiency, slowly progressing · MPS6, slowly progressing

ORPHA:276223

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

ORPHA:584

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

ORPHA:293181

Hyaluronidase deficiency

MPS9 · MPSIX

ORPHA:67041

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

ORPHA:579

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