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Otosclerosis

DOID EFO Endpoint Browser PheWeb

H8_OTOSCLE

otosclerosis: 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.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — H80
  • Hospital discharge: ICD-9 — 387
  • Hospital discharge: ICD-8 — 38699
  • Cause of death: ICD-10 — H80
  • Cause of death: ICD-9 — 387
  • Cause of death: ICD-8 — 38699

2 out of 7 registries used, show all original rules.

2513

4. Check minimum number of events

None

2513

5. Include endpoints

None

2513

6. Filter based on genotype QC (FinnGen only)

2423

Control definitions (FinnGen only)

Control exclude H8_INNER

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H80-H83
Name in latin Otosclerosis

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 22316 13797 8374
Only index persons 20162 12689 7473
Unadjusted period prevalence (%)
Whole population 0.33 0.40 0.23
Only index persons 0.40 0.47 0.29
Median age at first event (years)
Whole population 46.35 46.34 46.36
Only index persons 45.60 45.55 45.69

-FinnGen-

Key figures

All Female Male
Number of individuals 2423 1529 894
Unadjusted period prevalence (%) 0.60 0.66 0.49
Median age at first event (years) 45.27 43.98 47.48

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: H8_OTOSCLE – Otosclerosis

GWS hits: 30

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