Human Phenotype Ontology 
Grandparent Node:
expandAbnormal tracheal morphology (HP:0002778)help
Parent Node:
expandBronchomalacia (HP:0002780)help
Parent Node:
expandTracheomalacia (HP:0002779)help
..Starting node
..expandTracheobronchomalacia (HP:0002786)help
Term ID: 2786
Name: Tracheobronchomalacia
Synonym:
Definition: Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.
Comments:
Reference: HP:0002786
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLaryngotracheomalacia (HP:0008755) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002786HP:0002786Tracheobronchomalacia0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0002786HP:0002786Tracheobronchomalacia0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0002786HP:0002786Tracheobronchomalacia0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0002786HP:0002786Tracheobronchomalacia0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0002786HP:0002786Tracheobronchomalacia0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0002786HP:0002786Tracheobronchomalacia0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0002786HP:0002786Tracheobronchomalacia0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0002786HP:0002786Tracheobronchomalacia0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0002786HP:0002786Tracheobronchomalacia0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109
HP:0002786HP:0033990Cartilaginous tracheobronchomalacia1 CL E G H
HP:0002786HP:0033979Excessive dynamic airway collapse1 CL E G H


Genes (7) :EHMT1 GMNN IDS RAC1 SCUBE3 SLC26A2 SOX9

Diseases (9) :OMIM:610253 OMIM:616835 OMIM:309900 OMIM:617751 ORPHA:500159 OMIM:619184 ORPHA:56304 OMIM:114290 ORPHA:140
 

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