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"

4 matching diseasesClear search ×

Pelizaeus-Merzbacher disease

Diffuse familial brain sclerosis · PMD

ORPHA:702

Diffuse cutaneous systemic sclerosis

Diffuse cutaneous systemic scleroderma · Progressive cutaneous systemic scleroderma

ORPHA:220393

Hereditary diffuse gastric cancer

FDGC · Familial diffuse cancer of stomach

ORPHA:26106

Schilder disease

Myelinoclastic diffuse sclerosis

ORPHA:59298