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"

5 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

Neurogenic thoracic outlet syndrome

NTOS · Neurogenic TOS

ORPHA:100073

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

ORPHA:2792

Wildervanck syndrome

Cervicooculoacoustic syndrome

ORPHA:3456