Phenotype: Abnormal acetabulum morphology (HP:0003170)
Associated genes and diseases:
gene_symbol: PTH1R
disease_id: ORPHA:79106
disease_name: Eiken syndrome
gene_symbol: CSPP1
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: KIAA0586
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: TMEM67
disease_id: ORPHA:140976
disease_name: RHYNS syndrome
Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
gene_symbol: HYAL1
disease_id: ORPHA:67041
disease_name: Hyaluronidase deficiency
MPS9
MPSIX
Mucopolysaccharidosis type 9
Mucopolysaccharidosis type IX
gene_symbol: COMP
disease_id: ORPHA:93308
disease_name: Multiple epiphyseal dysplasia type 1
EDM1
MED1
Polyepiphyseal dysplasia type 1
gene_symbol: RINT1
disease_id: OMIM:618641
disease_name: INFANTILE LIVER FAILURE SYNDROME 3
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
gene_symbol: MATN3
disease_id: ORPHA:93311
disease_name: Multiple epiphyseal dysplasia type 5
BHMED
Bilateral hereditary micro-epiphyseal dysplasia
EDM5
MED5
Polyepiphyseal dysplasia type 5
gene_symbol: SMAD3
disease_id: ORPHA:284984
disease_name: Aneurysm-osteoarthritis syndrome
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:614816
disease_name: LOEYS-DIETZ SYNDROME 4
gene_symbol: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SERPINF1
disease_id: OMIM:613982
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VI
gene_symbol: CRTAP
disease_id: OMIM:610682
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VII
gene_symbol: BMP4
disease_id: ORPHA:828
disease_name: Stickler syndrome
Hereditary progressive arthroophthalmopathy
gene_symbol: FKBP10
disease_id: OMIM:259450
disease_name: BRUCK SYNDROME 1
gene_symbol: FKBP10
disease_id: OMIM:610968
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XI
gene_symbol: COL1A1
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A2
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: MMP2
disease_id: OMIM:259600
disease_name: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: DYM
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:151210
disease_name: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE
gene_symbol: COL2A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL2A1
disease_id: ORPHA:94068
disease_name: Spondyloepiphyseal dysplasia congenita
Congenital spondyloepiphyseal dysplasia
SEDC
Spranger-Wiedemann disease
gene_symbol: SLC26A2
disease_id: OMIM:256050
disease_name: ATELOSTEOGENESIS, TYPE II
gene_symbol: SLC26A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: GNPNAT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP120
disease_id: OMIM:616300
disease_name: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
gene_symbol: CEP120
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHD4
disease_id: OMIM:617159
disease_name: SIFRIM-HITZ-WEISS SYNDROME
gene_symbol: NANS
disease_id: OMIM:610442
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
gene_symbol: NANS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBCE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FLNA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCN6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SHOX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDKN1C
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBM8A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ROR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PIGV
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHSY1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTDSS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC34A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTPN11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ABCC9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT80
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC25A24
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HDAC8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FERMT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCTN2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IKBKG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GLB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC10A7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXD13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NPPC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BTRC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DONSON
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NFIX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZC4H2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SRCAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GSC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMAD4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCNQ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DSE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MKS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EOGT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: INPPL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: INPPL1
disease_id: OMIM:258480
disease_name: OPSISMODYSPLASIA
gene_symbol: CUL7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRPS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MTAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CLCN7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PKDCC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TNFSF11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WDR35
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WDR35
disease_id: OMIM:614091
disease_name: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
gene_symbol: PEX5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SHH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FUCA1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPAT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FIG4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: TAPT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MMP9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCAL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FLNB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FLNB
disease_id: OMIM:108721
disease_name: ATELOSTEOGENESIS, TYPE III
gene_symbol: PPM1D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCOF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SP7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CILK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBPJ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TTI2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NOTCH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MESP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PDE3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NKX3-2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TNFRSF11A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRIP11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRIP11
disease_id: OMIM:184260
disease_name: ODONTOCHONDRODYSPLASIA 1
gene_symbol: IKBKB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNLT2B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLCO2A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SETD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SBDS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AMER1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOST
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP290
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LFNG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WDR19
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EZH2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKACB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IL2RG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NIPBL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HYLS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CSF1R
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AIFM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT43
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPRED1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2H1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CREB3L1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRPV6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DPM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYO18B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: INTU
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OTX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPARC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SEC24D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLX5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NAGLU
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LRP4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SEMA3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACVR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STAT5B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP2R1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MEGF8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFITM5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCDC134
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANO5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSDHL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC73
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAFB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OBSL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ENPP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TENT5A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FBXW4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PSMB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CANT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CANT1
disease_id: OMIM:617719
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: PROP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: XRCC4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM216
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RSPO2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HMGA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT10B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPP1R21
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TWIST1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SNX10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DNA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF23
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCIRG1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKACA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IARS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EFTUD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT5A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POU1F1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NBAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VPS35L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CC2D2A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EVC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CFAP410
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: P4HB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM20B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NOG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXOC6B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCDC8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EDN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLOD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARCN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: P3H1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SCARF2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARID1B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARSL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PNPLA6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LHX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GDF3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RREB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GLI3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ERF
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLAG1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLEKHM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CTSK
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC39A13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LAMA5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT140
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP3K7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ECEL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CPAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SGMS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STAT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GALNS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GLI2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAB23
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PUF60
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GDF6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT172
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SULF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EP300
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LIFR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARSB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RPL10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SH3BP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MIR140
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBXAS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GINS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GMNN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MBTPS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LRP5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EFNB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ATR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPTG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DHODH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM20C
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGSF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COG1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COG1
disease_id: ORPHA:263508
disease_name: COG1-CDG
CDG syndrome type IIg
CDG-IIg
CDG2G
Carbohydrate deficient glycoprotein syndrome type IIg
Congenital disorder of glycosylation type 2g
Congenital disorder of glycosylation type IIg
gene_symbol: DPCD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAPPA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EIF4A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DHCR24
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CBL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GZF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CLCN5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLCB3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACTB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LZTR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STIM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIPPLY2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPC6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL27A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HPGD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR1D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MEOX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: APC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2LI1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZMPSTE24
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SATB2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PYCR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOX9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL10A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL11A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RPGRIP1L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLCB4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT122
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAD21
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TREM2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EFL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTHLH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKG2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALPL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DDR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LBX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM231
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANKH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLCO5A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNAI3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2I1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHST14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RALA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TONSL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL11A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: B3GAT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EBP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SHOC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AFF3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MET
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NOTCH2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARHGAP31
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CREBBP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PCNT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RPL13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LONP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSMCE2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PIK3R1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC35D1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC35D1
disease_id: OMIM:269250
disease_name: SCHNECKENBECKEN DYSPLASIA
gene_symbol: CKAP2L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF1R
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NEK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KDELR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXOSC5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TNFRSF11B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RNPC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: B3GALT6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAM16
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAM16
disease_id: OMIM:613320
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
gene_symbol: CRIPT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KYNU
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYH3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPIB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ADAMTS10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PHEX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: XYLT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SUMF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IHH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GALNT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT7A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCA4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HSPA9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGDS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TAB2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SFRP4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: THPO
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NEU1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ESCO2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYCN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LEMD3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANKRD11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ORC4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OFD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COG4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PSAT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHRHR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PITX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AGA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHST11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RUNX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRIM37
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXA11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POC1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PDE4D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HAAO
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMC1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRAF3IP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPECC1L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX15
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALMS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ADAMTSL2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: B4GALT7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKAR1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCF12
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PITX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CTSA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGFR3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGFR3
disease_id: ORPHA:15
disease_name: Achondroplasia
gene_symbol: FGFR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DPF2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CSGALNACT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CSGALNACT1
disease_id: OMIM:618870
disease_name: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
gene_symbol: PPP1CB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CENPE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: XYLT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SH3PXD2B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LTBP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SALL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: UFSP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VDR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MANBA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR1C
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LMX1B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AMMECR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MNX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZSWIM6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXA13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIF7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT52
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT52
disease_id: OMIM:617102
disease_name: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
gene_symbol: ANTXR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDH3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FZD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMOC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NMNAT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PISD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP2K2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FUZ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RNU4ATAC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SF3B4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAPK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VPS33A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SRP54
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OSTM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXTL3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LPIN2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SCUBE3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KCNJ2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DNAJC21
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COLEC11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT81
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EDNRA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LBR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MECOM
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AGPS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ADAMTS17
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KMT2A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FMN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: H19
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VAC14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAPSS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFIH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SNRPB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC17A5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MSX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ID4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BTK
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GUSB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MGP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GORAB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACAN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FBLN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC35C1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP2K1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HS2ST1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CPLANE1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SGSH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM38B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NIN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLL4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GJA1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHST3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLK4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RMRP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC45
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPR161
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BHLHA9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HDAC4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EVC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MESD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG12
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ORC1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PROKR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2I2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BPNT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CASR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBBP8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ORC6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LRRK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EIF2AK3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SALL4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGFALS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TYROBP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZBTB16
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHSR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC42
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDH2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIF22
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DMP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP3K20
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HES7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCTN3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SERPINH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCE1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPTAB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: BMPR1B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HGSNAT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYL11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAN2B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RRAS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP152
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPRED2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MMP13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DVL3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HESX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DDRGK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RSPRY1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PCYT1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RECQL4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MMP14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM111A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLX6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LTBP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ATP6V0A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM165
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIGI
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LYSET
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LYSET
disease_id: OMIM:619345
disease_name: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
gene_symbol: NADSYN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRAIP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TTC21B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP63
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DVL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR3B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LHX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LMBR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GCM2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMPER
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
gene_symbol: LMNA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IL6ST
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAB33B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAB33B
disease_id: OMIM:615222
disease_name: SMITH-MCCORT DYSPLASIA 2
gene_symbol: SPINK5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NLRP3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLL3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACP5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DOCK6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MCM5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC29A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLS3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NEK9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIAA0753
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BRAF
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP26B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KAT6B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BRF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RASGRP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GDF5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NXN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GALNT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TP63
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP27B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DNMT3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PHGDH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRAPPC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGFR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDUA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IL1RN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCN2
disease_id: OMIM:211350
disease_name: KYPHOMELIC DYSPLASIA
gene_symbol: PHLDB1
disease_id: OMIM:620639
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXIII
gene_symbol: LRP1
disease_id: OMIM:620690
disease_name: DEVELOPMENTAL DYSPLASIA OF THE HIP 3
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
gene_symbol: AP4B1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: AP4B1
disease_id: OMIM:614066
disease_name: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
gene_symbol: AP4M1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: AP4S1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: AP4E1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: SLC35A3
disease_id: OMIM:615553
disease_name: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
gene_symbol: SCYL2
disease_id: ORPHA:1143
disease_name: Neurogenic arthrogryposis multiplex congenita
gene_symbol: COL25A1
disease_id: ORPHA:1143
disease_name: Neurogenic arthrogryposis multiplex congenita
gene_symbol: ERGIC1
disease_id: ORPHA:1143
disease_name: Neurogenic arthrogryposis multiplex congenita
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: TIMM22
disease_id: OMIM:618851
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43
gene_symbol: RPS15A
disease_id: OMIM:618313
disease_name: DIAMOND-BLACKFAN ANEMIA 20
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: ARSK
disease_id: OMIM:619698
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE X
gene_symbol: ERCC1
disease_id: OMIM:610758
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 4