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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"
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
PBC/PSC and AIH overlap syndrome · Overlap syndromes of autoimmune liver diseases
Encephalocraniocutaneous lipomatosis
Haberland syndrome
Myopathic Ehlers-Danlos syndrome
Myopathic EDS · EDS/myopathy overlap syndrome
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
Stevens-Johnson/toxic epidermal necrolysis overlap syndrome · SJS/TEN overlap syndrome