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"

8 matching diseasesClear search ×

Diffuse cutaneous systemic sclerosis

Diffuse cutaneous systemic scleroderma · Progressive cutaneous systemic scleroderma

ORPHA:220393

Limited cutaneous systemic sclerosis

Limited cutaneous systemic scleroderma · Progressive systemic sclerosis

ORPHA:220402

Limited systemic sclerosis

Progressive systemic sclerosis · Scleroderma

ORPHA:220407

Systemic sclerosis

Progressive systemic sclerosis · Scleroderma

ORPHA:90291

Aggressive systemic mastocytosis

ORPHA:98850

Alpers-Huttenlocher syndrome

Alpers progressive sclerosing poliodystrophy · Alpers syndrome

ORPHA:726

Gorham-Stout disease

Gorham disease · Gorham syndrome

ORPHA:73

OBSOLETE: Pediatric systemic sclerosis

OBSOLETE: Pediatric systemic scleroderma

ORPHA:93567