Human Phenotype Ontology 
Grandparent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
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Abnormal bronchus physiology (HP:0025427)help
..Starting node
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Bronchospasm (HP:0025428)help
Term ID: 25428
Name: Bronchospasm
Synonym:
Definition: A spasm (sudden, involuntary constriction) of the bronchioles.
Comments:
Reference: HP:0025428
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025428HP:0025428Bronchospasm0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type.34
HP:0025428HP:0025428Bronchospasm0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare169
HP:0025428HP:0025428Bronchospasm0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0025428HP:0025428Bronchospasm0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare
HP:0025428HP:0025428Bronchospasm0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0025428HP:0025428Bronchospasm0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0025428HP:0025428Bronchospasm0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0025428HP:0025428Bronchospasm0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0025428HP:0025428Bronchospasm0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0025428HP:0025428Bronchospasm0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0025428HP:0025428Bronchospasm0SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040283 - Occasional129
HP:0025428HP:0025428Bronchospasm0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0025428HP:0025428Bronchospasm0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.1


Genes (13) :ACAN ATRX CARS1 DAXX ERCC2 ERCC3 GTF2E2 GTF2H5 MPLKIP RNF113A SDHD TARS1 TSPYL1

Diseases (5) :OMIM:612813 ORPHA:100075 ORPHA:33364 ORPHA:100093 OMIM:608800
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.