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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"
Atypical Norrie disease due to Xp11.3 microdeletion
Atypical Norrie disease due to del(X)(p11.3) · Atypical Norrie disease due to nullisomy Xp11.3
Atypical Gaucher disease due to saposin C deficiency
HSD10 disease, atypical type
HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10
Norrie disease
Atrophia bulborum hereditaria · Episkopi blindness