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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"
Knobloch syndrome
Knobloch-Layer syndrome · Retinal detachment-occipital encephalocele syndrome
Lethal occipital encephalocele-skeletal dysplasia syndrome
Occipital encephalocele
Persistent hyperplastic primary vitreous
Non-syndromic congenital retinal non-attachment · PFVS
Zechi-Ceide syndrome
Occipital atretic cephalocele-unusual facies-large feet syndrome