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"

7 matching diseasesClear search ×

Mucolipidosis type III alpha/beta

ML 3 alpha/beta · ML III alpha/beta

ORPHA:423461

Mucolipidosis

ORPHA:79212

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

ORPHA:576

Mucolipidosis type III

Pseudo-Hurler polydystrophy

ORPHA:577

Mucolipidosis type III gamma

ML 3 gamma · ML III gamma

ORPHA:423470

Mucolipidosis type IV

ORPHA:578

Mucopolysaccharidosis type 3

MPS3 · MPSIII

ORPHA:581