Restrictive ventilatory defect


Normal Case/Contol

GWAS of 0002091

Sibling Case/Control

No sibling GWAS available 0002091


Case Control
1732 458462

Phenotype Definition

A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. []

Phenotype Comment

The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity.

Top SNP Information

Associated Diseases

ID Name Top Correlation
ICD: J069 Acute upper respiratory infection, unspecified 2/20