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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"
Schwartz-Jampel syndrome
Aberfeld syndrome · Burton skeletal dysplasia
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
Stevens-Johnson/toxic epidermal necrolysis overlap syndrome · SJS/TEN overlap syndrome
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
SJS-TEN · Epidermal necrolysis
Stüve-Wiedemann syndrome
STWS · Stüve-Wiedemann dysplasia