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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"
Ulbright-Hodes syndrome
Renal dysplasia-limb defects syndrome · Renal dysplasia-mesomelia-radiohumeral fusion syndrome
Autosomal recessive omodysplasia
Micromelic dysplasia-dislocation of radius syndrome
Radio-renal syndrome
Renal dysplasia-megalocystis-sirenomelia syndrome
Selig-Benacerraf-Greene syndrome
Senior-Loken syndrome
Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome