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Brachymorphism-onychodysplasia-dysphalangism syndrome

Disease Summary
Associated Targets ()

Mondo Description Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.
Mondo Term and Equivalent IDs
MONDO:0007230:  Brachymorphism-onychodysplasia-dysphalangism syndrome
GARD:0000918: 
MESH:C536242: 
Orphanet:1292: 
SCTID:720573009: 
UMLS:C1862082: