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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"
X-linked dominant chondrodysplasia punctata
CDPX2 · CDPXD
Bowen-Conradi syndrome
Bowen syndrome, Hutterite type
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
CD55 deficiency · CHAPLE syndrome
Corpus callosum agenesis-neuronopathy syndrome
Andermann syndrome · Charlevoix disease
Hallermann-Streiff syndrome
François dyscephalic syndrome · Oculomandibulofacial syndrome