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"

8 matching diseasesClear search ×

Neurogenic thoracic outlet syndrome

NTOS · Neurogenic TOS

ORPHA:100073

Arterial thoracic outlet syndrome

ATOS · Arterial TOS

ORPHA:357107

Cardiac-urogenital syndrome

MYRF-related cardiac urogenital syndrome

ORPHA:647811

Cervical hypertrichosis-peripheral neuropathy syndrome

ORPHA:2218

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

ORPHA:85146

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

ORPHA:2792

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

ORPHA:2704

Venous thoracic outlet syndrome

Effort subclavian vein thrombosis · Paget-Schrotter disease

ORPHA:357131