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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"
Esophageal atresia
CEA · Congenital esophageal atresia
Chronic enteropathy associated with SLCO2A1 gene
CEAS
Isolated spontaneous cervical artery dissection
CeAD
Didymosis aplasticosebacea
Aplasia cutis congenita-nevus sebaceus syndrome
Renal caliceal diverticuli-deafness syndrome
Renal caliceal diverticuli-hearing loss syndrome