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"

2 matching diseasesClear search ×

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