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 ×

Gorham-Stout disease

Gorham disease · Gorham syndrome

ORPHA:73

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

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

ORPHA:216812

Primary osteolysis

ORPHA:93449

Systemic sclerosis

Progressive systemic sclerosis · Scleroderma

ORPHA:90291