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otosclerosis

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.
Disease Ontology Description An otitis interna characterized by an abnormal bone growth in the middle ear.
Mondo Term and Equivalent IDs
MONDO:0005349:  otosclerosis
COHD:439035: 
EFO:0004213: 
ICD9:387.9: 
MESH:D010040: 
OMIMPS:166800: 
SCTID:11543004: 
UMLS:C0029899: 
GWAS Targets (1)
Target
TDL
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tbio
1
1
0
1.5
51.4
Target
TDL
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tbio
0
1.5
51.4
Target Novelty (Tin-x)