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osteoglophonic dwarfism

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.
Uniprot Description Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0008150:  osteoglophonic dwarfism
DOID:0111532: 
GARD:0004142: 
MESH:C536050: 
Orphanet:2645: 
SCTID:254144002: