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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"
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
Patterson-Stevenson-Fontaine syndrome
Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome
Posterior cortical atrophy
Benson syndrome · Biparietal Alzheimer disease
Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type