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"

52 matching diseasesClear search ×

Simpson-Golabi-Behmel syndrome

DGSX · Golabi-Rosen syndrome

ORPHA:373

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

ORPHA:818

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

ORPHA:49827

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

ORPHA:857