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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"
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Saito-Kuba-Tsuruta syndrome
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Kozlowski-Tsuruta syndrome
Radioulnar synostosis-microcephaly-scoliosis syndrome
Giuffré-Tsukahara syndrome · Tsukahara syndrome
Tako-Tsubo cardiomyopathy
Ampulla cardiomyopathy · Apical ballooning syndrome