Phenotype: Enlarged thorax (HP:0100625)
Associated genes and diseases:
gene_symbol: XYLT2
disease_id: OMIM:605822
disease_name: SPONDYLOOCULAR SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: POP1
disease_id: OMIM:617396
disease_name: ANAUXETIC DYSPLASIA 2
gene_symbol: TRPV4
disease_id: OMIM:184095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
gene_symbol: P4HA1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: XYLT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PLOD3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: FLNB
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: GZF1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B3GAT3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PIEZO2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B4GALT7
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: SKI
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CANT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: KIF22
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B3GALT6
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: GORAB
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CHST3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CSGALNACT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: WNT4
disease_id: ORPHA:247768
disease_name: Müllerian aplasia and hyperandrogenism
Müllerian duct failure and hyperandrogenism
WNT4 deficiency
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: RAB5IF
disease_id: OMIM:616994
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
gene_symbol: TRAPPC2
disease_id: OMIM:313400
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED
gene_symbol: SRCAP
disease_id: ORPHA:2044
disease_name: Floating-Harbor syndrome
gene_symbol: MAP2K1
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: IDH1
disease_id: ORPHA:99646
disease_name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: COL2A1
disease_id: ORPHA:94068
disease_name: Spondyloepiphyseal dysplasia congenita
Congenital spondyloepiphyseal dysplasia
SEDC
Spranger-Wiedemann disease
gene_symbol: COL2A1
disease_id: OMIM:200610
disease_name: ACHONDROGENESIS, TYPE II
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: TRIP11
disease_id: OMIM:200600
disease_name: ACHONDROGENESIS, TYPE IA
gene_symbol: MYH3
disease_id: OMIM:178110
disease_name: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A
gene_symbol: VPS33A
disease_id: ORPHA:505248
disease_name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Mucopolysaccharidosis-like plus disease
gene_symbol: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
gene_symbol: KDELR2
disease_id: OMIM:619131
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXI
gene_symbol: KDELR2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL13A1
disease_id: OMIM:616720
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 19
gene_symbol: WNT7A
disease_id: OMIM:276820
disease_name: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: EIF2AK3
disease_id: OMIM:226980
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
gene_symbol: RAB33B
disease_id: OMIM:615222
disease_name: SMITH-MCCORT DYSPLASIA 2
gene_symbol: CILK1
disease_id: OMIM:612651
disease_name: ENDOCRINE-CEREBROOSTEODYSPLASIA
gene_symbol: RMRP
disease_id: OMIM:607095
disease_name: ANAUXETIC DYSPLASIA 1
gene_symbol: ACAN
disease_id: ORPHA:171866
disease_name: Spondyloepimetaphyseal dysplasia, aggrecan type
SEMD, aggrecan type
gene_symbol: ACAN
disease_id: OMIM:612813
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE
gene_symbol: SERPINF1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: NBAS
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MESD
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MIA3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: KIF5B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PHLDB1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CREB3L1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: WNT11
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SLC10A7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SPARC
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC16B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC24D
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P3H1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII
gene_symbol: ALPL
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SERPINH1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: IFITM5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CCDC134
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CRTAP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLS3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TENT5A
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TAPT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SGMS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: FKBP10
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COPB2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SP7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: AMBN
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: LIFR
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: DSPP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TMEM38B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: WNT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MBTPS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: LRP5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PPIB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: LMNA
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: ZMPSTE24
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: ZMPSTE24
disease_id: OMIM:275210
disease_name: RESTRICTIVE DERMOPATHY, LETHAL
gene_symbol: GATA4
disease_id: ORPHA:251071
disease_name: 8p23.1 microdeletion syndrome
Del(8)(p23.1)
Monosomy 8p23.1
gene_symbol: GUSB
disease_id: ORPHA:584
disease_name: Mucopolysaccharidosis type 7
Beta-glucuronidase deficiency
MPS7
MPSVII
Mucopolysaccharidosis type VII
Sly disease
gene_symbol: GPKOW
disease_id: ORPHA:2570
disease_name: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Morse-Rawnsley-Sargent syndrome
gene_symbol: MAPK1
disease_id: OMIM:619087
disease_name: NOONAN SYNDROME 13
gene_symbol: CUL7
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: OBSL1
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: CCDC8
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: BMPER
disease_id: ORPHA:66637
disease_name: Diaphanospondylodysostosis
DSD
gene_symbol: BMP1
disease_id: OMIM:614856
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIII
gene_symbol: RRAS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: LZTR1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RIT1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RAF1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: MRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: KRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SPRED2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: NRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RASA2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: BRAF
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: FBN1
disease_id: ORPHA:284979
disease_name: Neonatal Marfan syndrome
Neonatal MFS
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: INTU
disease_id: OMIM:617925
disease_name: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
gene_symbol: PRKACA
disease_id: OMIM:619142
disease_name: CARDIOACROFACIAL DYSPLASIA 1
gene_symbol: PRKACB
disease_id: OMIM:619143
disease_name: CARDIOACROFACIAL DYSPLASIA 2
gene_symbol: NAA10
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia
gene_symbol: BCOR
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia