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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"
Renal-hepatic-pancreatic dysplasia
Ivemark II syndrome · Renohepaticopancreatic dysplasia
Alagille syndrome
Alagille-Watson syndrome · Arteriohepatic dysplasia
NPHP3-related Meckel-like syndrome
Goldston syndrome · Meckel syndrome type 7
Renal dysplasia
Kidney dysplasia