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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
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
Citrullinemia type I
ASS deficiency · Argininosuccinate synthase deficiency
Citrullinemia type II
Adult-onset citrin deficiency · CTLN2
Hyperlysinemia
Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency
Saccharopinuria
Hyperlysinemia type II · Saccharopine dehydrogenase deficiency