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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"
Complete atrioventricular septal defect with ventricular hypoplasia
CAVC with ventricular hypoplasia · Complete atrioventricular canal defect with ventricular hypoplasia
Isolated right ventricular hypoplasia
Parietal foramina with clavicular hypoplasia
Parietal foramina with cleidocranial dysplasia