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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"
Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome · WAS
AIDS wasting syndrome
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Classic 21-OHD CAH, salt wasting form
Kawasaki disease
Mucocutaneous lymph node syndrome
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome