Trait

Functional respiratory abnormality

Clinical name: Abnormal respiratory system physiology

Abnormal function of the respiratory system.

HPO HP:0002795

Also called: Respiratory problem, Abnormal respiration
Body system: Abnormality of the respiratory system

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12 genes linked to Functional respiratory abnormality

Changes in these genes cause rare conditions in which Functional respiratory abnormality 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
CFTRCF transmembrane conductance regulator	Very often (80–99%)	In 1 condition
HLA-DPB1major histocompatibility complex, class II, DP beta 1	Very often (80–99%)	In 1 condition
SCNN1Asodium channel epithelial 1 subunit alpha	Very often (80–99%)	In 1 condition
SCNN1Bsodium channel epithelial 1 subunit beta	Very often (80–99%)	In 1 condition
SCNN1Gsodium channel epithelial 1 subunit gamma	Very often (80–99%)	In 1 condition
ACANaggrecan	Often (30–79%)	In 1 condition
RYR1ryanodine receptor 1	Often (30–79%)	In 2 conditions
BAP1BRCA1 associated deubiquitinase 1	Sometimes (5–29%)	In 1 condition
COL2A1collagen type II alpha 1 chain	Sometimes (5–29%)	In 2 conditions
MYOTmyotilin	Sometimes (5–29%)	In 1 condition
TALDO1transaldolase 1	Sometimes (5–29%)	In 1 condition
TLL1tolloid like 1	Sometimes (5–29%)	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.

Broader traits

Abnormality of the respiratory system

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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