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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"
Cardiospondylocarpofacial syndrome
Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome
PASH syndrome
Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
PASS syndrome
Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome
Robinow syndrome
Acral dysostosis with facial and genital abnormalities · Fetal face syndrome
Robinow-like syndrome
Saal-Greenstein syndrome
X-linked intellectual disability, Snyder type
Snyder-Robinson syndrome