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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
RHYNS syndrome
Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Chang-Davidson-Carlson syndrome
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Saldino-Mainzer syndrome
Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome
Usher syndrome
Retinitis pigmentosa-deafness syndrome · USH