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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"
Schöpf-Schulz-Passarge syndrome
Eccrine tumors-ectodermal dysplasia · Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
Coxopodopatellar syndrome
Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome
Stiff person spectrum disorder
Stiff man spectrum disorder · Moersch-Woltman syndrome
Subacute sclerosing leukoencephalitis
Dawson encephalitis · SSPE