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 ×

Braddock syndrome

Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency

ORPHA:52047

Dursun syndrome

Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome

ORPHA:178503

Syndrome with pulmonary hypertension as a major feature

ORPHA:275853