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"

2 matching diseasesClear search ×

Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome

Morse-Rawnsley-Sargent syndrome

ORPHA:2570

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

ORPHA:75858