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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"
Venous thoracic outlet syndrome
Effort subclavian vein thrombosis · Paget-Schrotter disease
Anti-glomerular basement membrane disease
Anti-GBM syndrome
Antisynthetase syndrome
AS syndrome · Anti-Jo1 syndrome
Arterial thoracic outlet syndrome
ATOS · Arterial TOS
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