| Human Phenotype
Ontology
|
..Starting node
.. Bronchoconstriction (HP:4000007)
|
| Term ID: |
4000007 |
| Name: |
Bronchoconstriction |
| Synonym: |
Bronchial constriction; Constriction of the bronchi |
| Definition: |
Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath. |
| Comments: |
|
| Reference: |
HP:4000007 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | ADRB2 CL E G H | 154 | 286 | OMIM:600807 | Asthma, susceptibility to | . | | | 5 | | | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | ALOX5 CL E G H | 240 | 435 | OMIM:600807 | Asthma, susceptibility to | . | | | 4 | | | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | CCL11 CL E G H | 6356 | 10610 | OMIM:600807 | Asthma, susceptibility to | . | | | 2 | | | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | | | | 123 | | | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | HLA-G CL E G H | 3135 | 4964 | OMIM:600807 | Asthma, susceptibility to | . | | | | | | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | HNMT CL E G H | 3176 | 5028 | OMIM:600807 | Asthma, susceptibility to | . | | | 3 | | | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | IL13 CL E G H | 3596 | 5973 | OMIM:600807 | Asthma, susceptibility to | . | | | 2 | | | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | MUC7 CL E G H | 4589 | 7518 | OMIM:600807 | Asthma, susceptibility to | . | | | 1 | | | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | PLA2G7 CL E G H | 7941 | 9040 | OMIM:600807 | Asthma, susceptibility to | . | | | 5 | | | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | PTGER2 CL E G H | 5732 | 9594 | OMIM:208550 | Asthma, nasal polyps, and aspirin intolerance | . | | | 1 | | | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | SCGB3A2 CL E G H | 117156 | 18391 | OMIM:600807 | Asthma, susceptibility to | . | | | 1 | | | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | TBX21 CL E G H | 30009 | 11599 | OMIM:208550 | Asthma, nasal polyps, and aspirin intolerance | . | | | 1 | | | | HP:4000007 | HP:4000007 | Bronchoconstriction | 0 | TNF CL E G H | 7124 | 11892 | OMIM:600807 | Asthma, susceptibility to | . | | | 7 | | |
Genes (13) :ADRB2 ALOX5 CCL11 GALNS HLA-G HNMT IL13 MUC7 PLA2G7 PTGER2 SCGB3A2 TBX21 TNF
Diseases (3) :OMIM:600807 OMIM:253000 OMIM:208550 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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