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 ×

Wiskott-Aldrich syndrome

Eczema-thrombocytopenia-immunodeficiency syndrome · WAS

ORPHA:906

AIDS wasting syndrome

ORPHA:90081

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

Classic 21-OHD CAH, salt wasting form

ORPHA:315306

Kawasaki disease

Mucocutaneous lymph node syndrome

ORPHA:2331

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

ORPHA:369992