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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"
Persistent hyperplastic primary vitreous
Non-syndromic congenital retinal non-attachment · PFVS
Autosomal dominant rhegmatogenous retinal detachment
Coats disease
Congenital retinal telangiectasia · Leber miliary aneurysm
Knobloch syndrome
Knobloch-Layer syndrome · Retinal detachment-occipital encephalocele syndrome
OBSOLETE: Congenital blindness due to retinal non-attachment