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

Localized scleroderma

Localized fibrosing scleroderma

ORPHA:90289

Nijmegen breakage syndrome-like disorder

Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder

ORPHA:240760

Rare scleral disorder

ORPHA:519298

Scleroderma

ORPHA:801

Systemic sclerosis

Progressive systemic sclerosis · Scleroderma

ORPHA:90291