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osteogenesis imperfecta

Disease Summary
Associated Targets (183)
Tbio

136

Tchem

29

Tclin

18


Explore Associated Targets
Mondo Description Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.
Disease Ontology Description An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Mondo Term and Equivalent IDs
MONDO:0019019:  osteogenesis imperfecta
COHD:78257: 
GARD:0001017: 
ICD10:Q78.0: 
ICD9:756.51: 
MESH:D010013: 
NCIT:C26837: 
OMIMPS:166200: 
Orphanet:666: 
SCTID:78314001: 
UMLS:C0029434: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)