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 ×

Mucopolysaccharidosis type 3

MPS3 · MPSIII

ORPHA:581

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

ORPHA:247165

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

ORPHA:168598

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

ORPHA:584

Salla disease

ORPHA:309334

Sandhoff disease

ORPHA:796

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

ORPHA:79272

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

ORPHA:85414

Tay-Sachs disease

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

ORPHA:845