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"

3 matching diseasesClear search ×

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

ORPHA:86908

Hereditary elliptocytosis

HE

ORPHA:288

Hobnail hemangioma

HH · Targetoid hemosiderotic hemangioma

ORPHA:675362