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

Anti-glomerular basement membrane disease

Anti-GBM syndrome

ORPHA:375

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

ORPHA:81

Arterial dissection-lentiginosis syndrome

ORPHA:1682

Arterial tortuosity syndrome

ATS

ORPHA:3342

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

SCALP syndrome

Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome · Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome

ORPHA:370052

Venous thoracic outlet syndrome

Effort subclavian vein thrombosis · Paget-Schrotter disease

ORPHA:357131