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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"
Mal de débarquement
Disembarkment syndrome · MdD
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Lissencephaly type 2 with muscular and ocular involvement · MDDGA
Menkes disease
Menkes kinky hair disease · MD