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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"
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Meconium ileus due to guanylate cyclase 2C deficiency
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity