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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"
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Atypical MRKH syndrome · MRKH syndrome type 2
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Saito-Kuba-Tsuruta syndrome
Müllerian duct anomalies-limb anomalies syndrome
Senior-Loken syndrome
Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome