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"

6 matching diseasesClear search ×

Venous thoracic outlet syndrome

Effort subclavian vein thrombosis · Paget-Schrotter disease

ORPHA:357131

Arterial thoracic outlet syndrome

ATOS · Arterial TOS

ORPHA:357107

Hyper-IgE syndrome

ORPHA:331223

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

ORPHA:343

Hyperkeratosis-hyperpigmentation syndrome

ORPHA:1336

Ovarian hyperstimulation syndrome

OHSS

ORPHA:64739