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"

54 matching diseasesClear search ×

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

ORPHA:185

Syndrome with woolly hair

ORPHA:434809

Uncombable hair syndrome

Pili trianguli et canaliculi

ORPHA:1410

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome

ORPHA:170

Xanthoma disseminatum

Montgomery syndrome

ORPHA:158003