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

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

ORPHA:67047

Arterial thoracic outlet syndrome

ATOS · Arterial TOS

ORPHA:357107

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

ORPHA:3071

Coxoauricular syndrome

ORPHA:1508

Neurogenic thoracic outlet syndrome

NTOS · Neurogenic TOS

ORPHA:100073