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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"
Young syndrome
Azoospermia-sinopulmonary infections syndrome · Sinusitis-infertility syndrome
Deafness-infertility syndrome
Hearing loss-infertility syndrome · DIS
Familial articular hypermobility syndrome
Familial joint instability syndrome · Familial joint laxity
Silent sinus syndrome
Imploding antrum syndrome · CMA grade 3