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"

11 matching diseasesClear search ×

Arterial thoracic outlet syndrome

ATOS · Arterial TOS

ORPHA:357107

Aortic dilatation-joint hypermobility-arterial tortuosity syndrome

ORPHA:88636

Arterial dissection-lentiginosis syndrome

ORPHA:1682

Arterial tortuosity syndrome

ATS

ORPHA:3342

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

ORPHA:1276

Grange syndrome

Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

ORPHA:79094

Hyper-IgE syndrome

ORPHA:331223

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

ORPHA:343

Non-24-hour sleep-wake syndrome

Hypernychthemeral syndrome

ORPHA:73267

Ovarian hyperstimulation syndrome

OHSS

ORPHA:64739

Venous thoracic outlet syndrome

Effort subclavian vein thrombosis · Paget-Schrotter disease

ORPHA:357131