Trait
Abnormality of lung structure
Clinical name: Abnormal lung morphology
Any structural anomaly of the lung.
Summary
- Also called
- Abnormality of the lungs, Abnormally shaped lung, Lung disease, Unusual lung shape
- Body system
- Abnormality of the respiratory system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test9 genes linked to Abnormality of lung structure
Changes in these genes cause rare conditions in which Abnormality of lung structure is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| BTKBruton tyrosine kinase | Often (30–79%) | In 1 condition |
| BTNL2butyrophilin like 2 | Often (30–79%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Often (30–79%) | In 1 condition |
| STRA6signaling receptor and transporter of retinol STRA6 | Often (30–79%) | In 1 condition |
| WNT7BWnt family member 7B | Often (30–79%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Sometimes (5–29%) | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Sometimes (5–29%) | In 1 condition |
| NF1neurofibromin 1 | Sometimes (5–29%) | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Rarely (1–4%) | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
- Respiratory tract infection119 genes
- Emphysema43 genes
- Abnormality in area between air sacs in lung39 genes
- Lung cancer31 genes
- Excess fluid in lungs30 genes
- Abnormal pleura morphology14 genes
- Pulmonary hemorrhage8 genes
- Pulmonary cyst3 genes
- Pulmonary hyperplasia2 genes
- Abnormality of the lung blood vessels1 gene
- Abnormal bronchoalveolar lavage fluid morphology
- Abnormal lung development
- Abnormal pulmonary alveolar system morphology
- Abnormal pulmonary lymphatics
- Abnormal subpleural morphology
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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