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"

9 matching diseasesClear search ×

Metachromatic leukodystrophy, juvenile form

Arylsulfatase A deficiency, juvenile form · MLD, juvenile form

ORPHA:309263

Enthesitis-related juvenile idiopathic arthritis

Enthesitis-related JIA · Juvenile ERA

ORPHA:85438

Juvenile dermatomyositis

Juvenile DM

ORPHA:93672

Juvenile polymyositis

Juvenile PM

ORPHA:93568

Juvenile primary lateral sclerosis

JPLS · Juvenile PLS

ORPHA:247604

Metachromatic leukodystrophy, adult form

Arylsulfatase A deficiency, adult form · MLD, adult form

ORPHA:309271

Metachromatic leukodystrophy, late infantile form

Arylsulfatase A deficiency, late infantile form · MLD, late infantile form

ORPHA:309256

Sandhoff disease, juvenile form

Beta-hexosaminidase subunit beta deficiency, juvenile form · GM2 gangliosidosis, Sandhoff variant, juvenile form

ORPHA:309162

Tay-Sachs disease, juvenile form

Beta-hexosaminidase subunit alpha deficiency, juvenile form · GM2 gangliosidosis, Tay-Sachs variant, juvenile form

ORPHA:309185