You are using an outdated browser. Please upgrade your browser to improve your experience.

blepharonasofacial malformation syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0007200:  blepharonasofacial malformation syndrome
GARD:0004238: 
MESH:C536303: 
Orphanet:1252: 
SCTID:717913006: 
UMLS:C0796197: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found