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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"
Hair defect-photosensitivity-intellectual disability syndrome
Calderón-González-Cantu syndrome
CANOMAD syndrome
Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome · Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies
Cantú syndrome
Hypertrichotic osteochondrodysplasia · Congenital hypertrichosis-coarse facial features spectrum
Pentalogy of Cantrell
Cantrell deformity · Cantrell syndrome