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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"
Arthrogryposis-hyperkeratosis syndrome, lethal form
Johnston-Aarons-Schelley syndrome
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Johnson-Munson syndrome
Dubin-Johnson syndrome
Dubin-Sprinz disease · Hyperbilirubinemia type 2
Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type
X-linked intellectual disability-macrocephaly-macroorchidism syndrome
Johnson syndrome