Rare Disease Library

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"

4 matching diseasesClear search ×

Fibulo-ulnar hypoplasia-renal anomalies syndrome

Saito-Kuba-Tsuruta syndrome

ORPHA:2256

Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

Kozlowski-Tsuruta syndrome

ORPHA:2204

Radioulnar synostosis-microcephaly-scoliosis syndrome

Giuffré-Tsukahara syndrome · Tsukahara syndrome

ORPHA:3268

Tako-Tsubo cardiomyopathy

Ampulla cardiomyopathy · Apical ballooning syndrome

ORPHA:66529