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acrofrontofacionasal dysostosis

Disease Summary
Associated Targets ()

Mondo Description A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
Mondo Term and Equivalent IDs
MONDO:0008715:  acrofrontofacionasal dysostosis
GARD:0000484: 
Orphanet:1784: 
SCTID:720408003: 
UMLS:C1860118: