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- Be00fb820d823e17bc32a8449a5090a79 hasDbXref "Orphanet:1200" @default.
- Be00fb820d823e17bc32a8449a5090a79 type Axiom @default.
- Be00fb820d823e17bc32a8449a5090a79 annotatedProperty IAO_0000115 @default.
- Be00fb820d823e17bc32a8449a5090a79 annotatedSource MONDO_0012064 @default.
- Be00fb820d823e17bc32a8449a5090a79 annotatedTarget "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome." @default.