Phenotype: Bowing of the arm (HP:0006488)
Associated genes and diseases:
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: MMP13
disease_id: OMIM:602111
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE
gene_symbol: SLC26A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: SLC26A2
disease_id: ORPHA:93307
disease_name: Multiple epiphyseal dysplasia type 4
Autosomal recessive multiple epiphyseal dysplasia
EDM4
MED4
Polyepiphyseal dysplasia type 4
rMED
gene_symbol: XYLT2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: VCAN
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: GZF1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: KCNJ13
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LRP2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: BMP4
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: SLITRK6
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: P3H2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LOXL3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: NPR2
disease_id: OMIM:602875
disease_name: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
gene_symbol: WNT7A
disease_id: OMIM:228930
disease_name: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
gene_symbol: WNT7A
disease_id: ORPHA:2879
disease_name: Phocomelia, Schinzel type
Al Awadi-Raas-Rothschild syndrome
Aplasia/hypoplasia of limbs and pelvis
Congenital absence of ulna and fibula
Severe limb deficit
gene_symbol: WNT7A
disease_id: OMIM:276820
disease_name: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
gene_symbol: FGF23
disease_id: OMIM:617993
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
gene_symbol: GDF5
disease_id: OMIM:201250
disease_name: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
gene_symbol: FGFR3
disease_id: OMIM:100800
disease_name: ACHONDROPLASIA
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
gene_symbol: SHOX
disease_id: OMIM:127300
disease_name: LERI-WEILL DYSCHONDROSTEOSIS
gene_symbol: SHOX
disease_id: ORPHA:240
disease_name: Léri-Weill dyschondrosteosis
Léri-Weill syndrome
gene_symbol: SHOX
disease_id: OMIM:249700
disease_name: LANGER MESOMELIC DYSPLASIA
gene_symbol: TMEM67
disease_id: OMIM:602152
disease_name: RHYNS SYNDROME
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: B2M
disease_id: OMIM:241600
disease_name: IMMUNODEFICIENCY 43
gene_symbol: IFT43
disease_id: OMIM:617866
disease_name: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: HOXA11
disease_id: OMIM:605432
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: VPS35L
disease_id: OMIM:619135
disease_name: RITSCHER-SCHINZEL SYNDROME 3
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
gene_symbol: POR
disease_id: OMIM:207410
disease_name: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
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: 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: 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: FGFR2
disease_id: OMIM:207410
disease_name: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: COL2A1
disease_id: OMIM:184253
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE
gene_symbol: LBR
disease_id: OMIM:618019
disease_name: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
gene_symbol: FLNB
disease_id: OMIM:272460
disease_name: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
gene_symbol: SPARC
disease_id: OMIM:616507
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XVII
gene_symbol: KIAA0753
disease_id: OMIM:619479
disease_name: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY
gene_symbol: LAMA5
disease_id: OMIM:620076
disease_name: BENT BONE DYSPLASIA SYNDROME 2
gene_symbol: B3GALT6
disease_id: OMIM:609465
disease_name: AL-GAZALI SYNDROME
gene_symbol: CCN2
disease_id: OMIM:211350
disease_name: KYPHOMELIC DYSPLASIA
gene_symbol: RSPO2
disease_id: OMIM:618022
disease_name: HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY
gene_symbol: CILK1
disease_id: OMIM:612651
disease_name: ENDOCRINE-CEREBROOSTEODYSPLASIA
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: SERPINF1
disease_id: OMIM:613982
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VI
gene_symbol: MBTPS2
disease_id: OMIM:301014
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIX
gene_symbol: TRIP11
disease_id: OMIM:200600
disease_name: ACHONDROGENESIS, TYPE IA
gene_symbol: KDELR2
disease_id: OMIM:619131
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXI
gene_symbol: SP7
disease_id: OMIM:613849
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XII