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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"
Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome · PXE
Acquired pseudoxanthoma elasticum
Acquired Gronblad-Strandberg-Touraine syndrome · Acquired PXE
Pachydermoperiostosis
PDP · Touraine-Solente-Gole syndrome
X-linked hypohidrotic ectodermal dysplasia
Christ-Siemens-Touraine syndrome · XHED