Rare Disease Library

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"

5 matching diseasesClear search ×

Arthrogryposis-hyperkeratosis syndrome, lethal form

Johnston-Aarons-Schelley syndrome

ORPHA:1485

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Johnson-Munson syndrome

ORPHA:1112

Dubin-Johnson syndrome

Dubin-Sprinz disease · Hyperbilirubinemia type 2

ORPHA:234

Stevens-Johnson syndrome

Dermatostomatitis, Stevens Johnson type

ORPHA:36426

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

ORPHA:85320