Human Gene Set: HP_RESTRICTIVE_VENTILATORY_DEFECT


Standard name HP_RESTRICTIVE_VENTILATORY_DEFECT
Systematic name M35634
Brief description Restrictive ventilatory defect
Full description or abstract A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. [https://orcid.org/0000-0003-4546-6667, PMID:28194273]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0002091
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0002091
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2025.1.Hs: Updated to HPO Release 2025-05-06.

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