Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | | | | 284 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type | | | | 284 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040284 - Very rare | | | 223 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | | | | 5 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | ERF CL E G H | 2077 | 3444 | OMIM:617180 | Chitayat syndrome | . | | | 12 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93259 | Pfeiffer syndrome type 2 | HP:0040282 - Frequent | | | 175 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | HP:0040281 - Very frequent | | | 175 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:56305 | Atelosteogenesis type III | | | | 233 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | | | | 233 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | | | | 14 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040284 - Very rare | | | 99 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040284 - Very rare | | | 57 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | . | | | 21 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | HP:0040283 - Occasional | | | 59 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | . | | | 4 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | . | | | 135 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | | | | 3 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | . | | | 40 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040281 - Very frequent | | | 109 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | TRIM2 CL E G H | 23321 | 15974 | OMIM:615490 | Charcot-Marie-Tooth disease, axonal, type 2R | . | | | 3 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300919 | MENTAL RETARDATION, X-LINKED 99; MRX99 | | | | 27 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002779 | HP:0002779 | Tracheomalacia | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0002779 | HP:0008755 | Laryngotracheomalacia | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040284 - Very rare | | | 284 | | |
HP:0002779 | HP:0008755 | Laryngotracheomalacia | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type | HP:0040283 - Occasional | | | 284 | | |
HP:0002779 | HP:0008755 | Laryngotracheomalacia | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | HP:0040283 - Occasional | | | 284 | | |
HP:0002779 | HP:0002786 | Tracheobronchomalacia | 1 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0002779 | HP:0008755 | Laryngotracheomalacia | 1 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0002779 | HP:0008755 | Laryngotracheomalacia | 1 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002779 | HP:0008755 | Laryngotracheomalacia | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:56305 | Atelosteogenesis type III | HP:0040283 - Occasional | | | 233 | | |
HP:0002779 | HP:0008755 | Laryngotracheomalacia | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | HP:0040283 - Occasional | | | 233 | | |
HP:0002779 | HP:0002786 | Tracheobronchomalacia | 1 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0002779 | HP:0008755 | Laryngotracheomalacia | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0002779 | HP:0002786 | Tracheobronchomalacia | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0002779 | HP:0008755 | Laryngotracheomalacia | 1 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040282 - Frequent | | | 14 | | |
HP:0002779 | HP:0002786 | Tracheobronchomalacia | 1 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0002779 | HP:0002786 | Tracheobronchomalacia | 1 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040283 - Occasional | | | 3 | | |
HP:0002779 | HP:0002786 | Tracheobronchomalacia | 1 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0002779 | HP:0002786 | Tracheobronchomalacia | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |
HP:0002779 | HP:0002786 | Tracheobronchomalacia | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040281 - Very frequent | | | 109 | | |
HP:0002779 | HP:0002786 | Tracheobronchomalacia | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0002779 | HP:0008755 | Laryngotracheomalacia | 1 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0002779 | HP:0008755 | Laryngotracheomalacia | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0002779 | HP:0033990 | Cartilaginous tracheobronchomalacia | 2 | CL E G H | | | | | | | | | | |
HP:0002779 | HP:0033979 | Excessive dynamic airway collapse | 2 | CL E G H | | | | | | | | | | |