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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"
Townes-Brocks syndrome
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Aughton-Hufnagle syndrome
Emery-Nelson syndrome
Hand and foot deformity-flat facies syndrome
Hand-foot-genital syndrome
HFGS · Hand-foot-uterus syndrome
Imperforate oropharynx-costovertebral anomalies syndrome
Seghers syndrome