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"

54 matching diseasesClear search ×

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

Trichorhinophalangeal syndrome type 2

Langer-Giedion syndrome

ORPHA:502

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

ORPHA:886

W syndrome

Pallister-W syndrome

ORPHA:2804

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS

ORPHA:912