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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis · Lindau disease
Familial angiolipomatosis
Familial cylindromatosis
Turban tumor syndrome
Hereditary leiomyomatosis and renal cell cancer
Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri
ITM2B amyloidosis
ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy