Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal tracheobronchial morphology (HP:0005607)help
Parent Node:
expand
Abnormal tracheal morphology (HP:0002778)help
..Starting node
..expand
Tracheomalacia (HP:0002779)help
Term ID: 2779
Name: Tracheomalacia
Synonym: Floppy windpipe
Definition:
Comments:
Reference: HP:0002779
Genes and Diseases:
 
       Child Nodes:
........expandTracheobronchomalacia (HP:0002786) help
........expandLaryngotracheomalacia (HP:0008755) help

 Sister Nodes: 
..expandAnomalous tracheal cartilage (HP:0004468) help
..expandDiverticulosis of trachea (HP:0006509) help
..expandNeoplasm of the trachea (HP:0100551) help
..expandTracheal calcification (HP:0002787) help
..expandTracheal cartilaginous sleeve (HP:0005347) help
..expandTracheal stenosis (HP:0002777) help
..expandTracheoesophageal fistula (HP:0002575) help
..expandTracheomegaly (HP:0010778) 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:0002779HP:0002779Tracheomalacia0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0002779HP:0002779Tracheomalacia0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0002779HP:0002779Tracheomalacia0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040283 - Occasional36
HP:0002779HP:0002779Tracheomalacia0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0002779HP:0002779Tracheomalacia0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0002779HP:0002779Tracheomalacia0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0002779HP:0002779Tracheomalacia0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasia284
HP:0002779HP:0002779Tracheomalacia0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0002779HP:0002779Tracheomalacia0COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick type284
HP:0002779HP:0002779Tracheomalacia0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenita284
HP:0002779HP:0002779Tracheomalacia0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0002779HP:0002779Tracheomalacia0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0002779HP:0002779Tracheomalacia0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0002779HP:0002779Tracheomalacia0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040284 - Very rare223
HP:0002779HP:0002779Tracheomalacia0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0002779HP:0002779Tracheomalacia0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome5
HP:0002779HP:0002779Tracheomalacia0ERF CL E G H20773444OMIM:617180Chitayat syndrome.12
HP:0002779HP:0002779Tracheomalacia0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0002779HP:0002779Tracheomalacia0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0002779HP:0002779Tracheomalacia0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2HP:0040282 - Frequent175
HP:0002779HP:0002779Tracheomalacia0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3HP:0040281 - Very frequent175
HP:0002779HP:0002779Tracheomalacia0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type III233
HP:0002779HP:0002779Tracheomalacia0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0002779HP:0002779Tracheomalacia0FLNB CL E G H23173755ORPHA:503Larsen syndrome233
HP:0002779HP:0002779Tracheomalacia0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0002779HP:0002779Tracheomalacia0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040283 - Occasional33
HP:0002779HP:0002779Tracheomalacia0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0002779HP:0002779Tracheomalacia0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0002779HP:0002779Tracheomalacia0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0002779HP:0002779Tracheomalacia0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0002779HP:0002779Tracheomalacia0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0002779HP:0002779Tracheomalacia0KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocations14
HP:0002779HP:0002779Tracheomalacia0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040284 - Very rare99
HP:0002779HP:0002779Tracheomalacia0LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC.92
HP:0002779HP:0002779Tracheomalacia0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040284 - Very rare57
HP:0002779HP:0002779Tracheomalacia0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0002779HP:0002779Tracheomalacia0ORC4 CL E G H50008490OMIM:613800Meier-Gorlin syndrome 2.21
HP:0002779HP:0002779Tracheomalacia0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0002779HP:0002779Tracheomalacia0PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 3HP:0040283 - Occasional59
HP:0002779HP:0002779Tracheomalacia0PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex.4
HP:0002779HP:0002779Tracheomalacia0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0002779HP:0002779Tracheomalacia0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0002779HP:0002779Tracheomalacia0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom3
HP:0002779HP:0002779Tracheomalacia0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0002779HP:0002779Tracheomalacia0RPL5 CL E G H612510360OMIM:612561Diamond-Blackfan anemia 6.40
HP:0002779HP:0002779Tracheomalacia0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0002779HP:0002779Tracheomalacia0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0002779HP:0002779Tracheomalacia0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040282 - Frequent6
HP:0002779HP:0002779Tracheomalacia0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0002779HP:0002779Tracheomalacia0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109
HP:0002779HP:0002779Tracheomalacia0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0002779HP:0002779Tracheomalacia0TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R.3
HP:0002779HP:0002779Tracheomalacia0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0002779HP:0002779Tracheomalacia0USP9X CL E G H823912632OMIM:300919MENTAL RETARDATION, X-LINKED 99; MRX9927
HP:0002779HP:0002779Tracheomalacia0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0002779HP:0002779Tracheomalacia0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0002779HP:0008755Laryngotracheomalacia1COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040284 - Very rare284
HP:0002779HP:0008755Laryngotracheomalacia1COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick typeHP:0040283 - Occasional284
HP:0002779HP:0008755Laryngotracheomalacia1COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040283 - Occasional284
HP:0002779HP:0002786Tracheobronchomalacia1EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0002779HP:0008755Laryngotracheomalacia1EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0002779HP:0008755Laryngotracheomalacia1EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040283 - Occasional5
HP:0002779HP:0008755Laryngotracheomalacia1FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040283 - Occasional233
HP:0002779HP:0008755Laryngotracheomalacia1FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040283 - Occasional233
HP:0002779HP:0002786Tracheobronchomalacia1GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0002779HP:0008755Laryngotracheomalacia1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0002779HP:0002786Tracheobronchomalacia1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0002779HP:0008755Laryngotracheomalacia1KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocationsHP:0040282 - Frequent14
HP:0002779HP:0002786Tracheobronchomalacia1RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0002779HP:0002786Tracheobronchomalacia1RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0002779HP:0002786Tracheobronchomalacia1SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0002779HP:0002786Tracheobronchomalacia1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0002779HP:0002786Tracheobronchomalacia1SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109
HP:0002779HP:0002786Tracheobronchomalacia1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0002779HP:0008755Laryngotracheomalacia1TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0002779HP:0008755Laryngotracheomalacia1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0002779HP:0033990Cartilaginous tracheobronchomalacia2 CL E G H
HP:0002779HP:0033979Excessive dynamic airway collapse2 CL E G H


Genes (42) :AFF4 AHDC1 AMER1 B3GALT6 BMPER COL2A1 DCHS1 EHMT1 EMC1 ERF FAT4 FGFR2 FLNB GMNN HDAC4 HK1 HRAS IDS KANSL1 KIF22 KMT2C LTBP4 MID1 MYRF ORC4 ORC6 PAX3 PRRX1 RAB3GAP2 RAC1 RALGAPA1 RPL5 SCUBE3 SLC26A2 SNRPB SOX9 TONSL TRIM2 TRRAP USP9X WDR26 ZNF699

Diseases (54) :OMIM:616368 ORPHA:444077 ORPHA:412069 OMIM:300373 ORPHA:536467 OMIM:608022 ORPHA:485 OMIM:156550 ORPHA:93346 ORPHA:94068 ORPHA:314679 OMIM:601390 OMIM:610253 ORPHA:261652 OMIM:616875 ORPHA:480898 OMIM:617180 OMIM:615546 ORPHA:93259 ORPHA:93260 ORPHA:56305 OMIM:150250 ORPHA:503 OMIM:616835 ORPHA:1001 OMIM:618547 OMIM:218040 OMIM:309900 ORPHA:363958 ORPHA:363965 ORPHA:93360 OMIM:613177 ORPHA:2745 OMIM:618280 OMIM:613800 OMIM:613803 ORPHA:896 OMIM:202650 OMIM:212720 OMIM:617751 ORPHA:500159 OMIM:618797 OMIM:612561 OMIM:619184 ORPHA:56304 ORPHA:1393 OMIM:114290 ORPHA:140 OMIM:271510 OMIM:615490 OMIM:618454 OMIM:300919 ORPHA:513456 OMIM:619488
 

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