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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"
AICA-ribosiduria
5-amino-4-imidazole carboxamide ribosiduria · ATIC deficiency
Formiminoglutamic aciduria
FTCD deficiency · Formiminotransferase cyclodeaminase deficiency
GTP cyclohydrolase I deficiency
GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
Transaldolase deficiency
TALDO deficiency
Transketolase deficiency
TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome