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"

11 matching diseasesClear search ×

GM1 gangliosidosis type 2

Juvenile GM1 gangliosidosis · Late-infantile GM1 gangliosidosis

ORPHA:79256

Gangliosidosis

ORPHA:309144

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

ORPHA:354

GM1 gangliosidosis type 1

Infantile GM1 gangliosidosis · Norman-Landing disease

ORPHA:79255

GM1 gangliosidosis type 3

Adult-onset GM1 gangliosidosis

ORPHA:79257

GM2 gangliosidosis

ORPHA:309152

GM2 gangliosidosis, AB variant

Hexosaminidase activator deficiency

ORPHA:309246

Juvenile nephropathic cystinosis

Intermediate cystinosis · Juvenile cystinosis

ORPHA:411634

Juvenile sialidosis type 2

ORPHA:93399

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