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"

9 matching diseasesClear search ×

Arterial thoracic outlet syndrome

ATOS · Arterial TOS

ORPHA:357107

Arterial tortuosity syndrome

ATS

ORPHA:3342

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

ORPHA:3095

Cerebrofacial arteriovenous metameric syndrome

CAMS

ORPHA:141189

Grange syndrome

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

ORPHA:79094

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

ORPHA:1187

Neurogenic thoracic outlet syndrome

NTOS · Neurogenic TOS

ORPHA:100073

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

ORPHA:2792

Venous thoracic outlet syndrome

Effort subclavian vein thrombosis · Paget-Schrotter disease

ORPHA:357131