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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"
Tyrosinemia type 1
FAH deficiency · Fumarylacetoacetase deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency
G6P deficiency · GSD due to G6P deficiency
Tyrosinemia type 2
Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia
Tyrosinemia type 3
Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency