Phenotype: Tracheomalacia (HP:0002779)
Associated genes and diseases:
gene_symbol: MYCN
disease_id: OMIM:620748
disease_name: MEGALENCEPHALY-POLYDACTYLY SYNDROME
gene_symbol: LTBP4
disease_id: OMIM:613177
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
gene_symbol: RPL5
disease_id: OMIM:612561
disease_name: DIAMOND-BLACKFAN ANEMIA 6
gene_symbol: AFF4
disease_id: OMIM:616368
disease_name: CHOPS SYNDROME
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: PRRX1
disease_id: OMIM:202650
disease_name: AGNATHIA-OTOCEPHALY COMPLEX
gene_symbol: HDAC4
disease_id: ORPHA:1001
disease_name: 2q37 microdeletion syndrome
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Monosomy 2q37qter
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
gene_symbol: SOX9
disease_id: ORPHA:140
disease_name: Campomelic dysplasia
Campomelic dwarfism
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: SOX9
disease_id: ORPHA:718
disease_name: Isolated Pierre Robin sequence
PRS
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
gene_symbol: EHMT1
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: KMT2C
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT SYNDROME
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: SNRPB
disease_id: ORPHA:1393
disease_name: Cerebrocostomandibular syndrome
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: RALGAPA1
disease_id: OMIM:618797
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
gene_symbol: AHDC1
disease_id: ORPHA:412069
disease_name: AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Xia-Gibbs syndrome
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: USP9X
disease_id: OMIM:300919
disease_name: MENTAL RETARDATION, X-LINKED 99
gene_symbol: RAB3GAP2
disease_id: OMIM:212720
disease_name: MARTSOLF SYNDROME
gene_symbol: FAT4
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: FAT4
disease_id: OMIM:615546
disease_name: VAN MALDERGEM SYNDROME 2
gene_symbol: DCHS1
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: DCHS1
disease_id: OMIM:601390
disease_name: VAN MALDERGEM SYNDROME 1
gene_symbol: SETD2
disease_id: OMIM:620155
disease_name: RABIN-PAPPAS SYNDROME
gene_symbol: PAX3
disease_id: ORPHA:896
disease_name: Waardenburg syndrome type 3
Klein-Waardenburg syndrome
WS3
Waardenburg syndrome type III
Waardenburg syndrome with limb anomalies
gene_symbol: AMER1
disease_id: OMIM:300373
disease_name: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
gene_symbol: MYRF
disease_id: OMIM:618280
disease_name: CARDIAC-UROGENITAL SYNDROME
gene_symbol: B3GALT6
disease_id: ORPHA:536467
disease_name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
gene_symbol: B3GALT6
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:93260
disease_name: Pfeiffer syndrome type 3
gene_symbol: FGFR2
disease_id: ORPHA:93259
disease_name: Pfeiffer syndrome type 2
gene_symbol: TRIM2
disease_id: OMIM:615490
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
gene_symbol: SLC26A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: XYLT2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: XYLT2
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: PLOD3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: VCAN
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: GZF1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: GZF1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: COL9A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: KCNJ13
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LRP2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: BMP4
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLITRK6
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: P3H2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LOXL3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: P4HA1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: XYLT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: FLNB
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: PIEZO2
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: SKI
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CANT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: KIF22
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: GORAB
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CHST3
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: CSGALNACT1
disease_id: OMIM:150250
disease_name: LARSEN SYNDROME
gene_symbol: FBN1
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: LTBP3
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: ADAMTSL2
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: MID1
disease_id: ORPHA:2745
disease_name: Opitz GBBB syndrome
Hypertelorism-hypospadias syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Opitz BBB/G syndrome
Opitz BBBG syndrome
Opitz G/BBB syndrome
Opitz-Frias syndrome
gene_symbol: ORC4
disease_id: OMIM:613800
disease_name: MEIER-GORLIN SYNDROME 2
gene_symbol: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: ORC6
disease_id: OMIM:613803
disease_name: MEIER-GORLIN SYNDROME 3
gene_symbol: CHD6
disease_id: ORPHA:2108
disease_name: Hallermann-Streiff syndrome
François dyscephalic syndrome
Oculomandibulofacial syndrome
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
gene_symbol: SCUBE3
disease_id: OMIM:619184
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2
gene_symbol: IDS
disease_id: OMIM:309900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE II
gene_symbol: RAC1
disease_id: OMIM:617751
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
gene_symbol: RAC1
disease_id: ORPHA:500159
disease_name: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: GMNN
disease_id: OMIM:616835
disease_name: MEIER-GORLIN SYNDROME 6
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: EMC1
disease_id: OMIM:616875
disease_name: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
gene_symbol: EMC1
disease_id: ORPHA:480898
disease_name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
gene_symbol: HK1
disease_id: OMIM:618547
disease_name: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
gene_symbol: TONSL
disease_id: OMIM:271510
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE