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frontofacionasal dysplasia

Disease Summary
Associated Targets ()

Mondo Description Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).
Mondo Term and Equivalent IDs
MONDO:0009247:  frontofacionasal dysplasia
GARD:0002390: 
MESH:C538063: 
Orphanet:1791: 
SCTID:716022002: 
UMLS:C2931720: