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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"
Achromatopsia
ACHM · Complete or incomplete color blindness
Autosomal dominant rhegmatogenous retinal detachment
OBSOLETE: Congenital blindness due to retinal non-attachment
Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction · SDS