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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"
Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome · DYT5a
GTP cyclohydrolase I deficiency
GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
Homocystinuria due to cystathionine beta-synthase deficiency
Cystathionine beta-synthase-deficient homocystinuria · Cystathionine beta-synthase deficiency