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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"
X-linked intellectual disability-seizures-psoriasis syndrome
Tranebjaerg-Svejgaard syndrome
Mohr-Tranebjaerg syndrome
DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome
Tumor necrosis factor receptor 1 associated periodic syndrome
Familial Hibernian fever · TNF receptor 1-associated periodic syndrome