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Cleft lip

DOID EFO Endpoint Browser PheWeb

Q17_CLEFT_LIP

cleft lip: ['Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.']

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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 — Q36
  • Hospital discharge: ICD-9 — 7491[A-G]
  • Hospital discharge: ICD-8 — 74910|7491[123]
  • Cause of death: ICD-10 — Q36
  • Cause of death: ICD-9 — 7491[A-G]
  • Cause of death: ICD-8 — 74910|7491[123]

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

91

4. Check minimum number of events

None

91

5. Include endpoints

None

91

6. Filter based on genotype QC (FinnGen only)

85

Control definitions (FinnGen only)

Control exclude Q17_CLEFT_LIP_CLEFT_PALATE

Extra metadata

First used in FinnGen datafreeze DF7

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 1666 668 995
Only index persons 1426 564 862
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.03
Only index persons 0.03 0.02 0.03
Median age at first event (years)
Whole population 0.64 0.72 0.53
Only index persons 1.13 1.87 0.64

-FinnGen-

Key figures

All Female Male
Number of individuals 85 45 40
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 5.59 9.18 1.54

-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: Q17_CLEFT_LIP – Cleft lip

GWS hits: -

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