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Disorder Names

Obesity, hereditary(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)

Occipital horn syndrome(ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ECM1, EFEMP2, ELN, ERCC4, FBLN5, FBN1, FKBP14, FLNA, GGCX, GORAB, GSN, HPGD, HRAS, LMNA, LTBP4, MMP14, PEPD, PLOD1, PYCR1, RIN2, SLC2A10, SLC39A13, SLCO2A1, SMARCAD1, TALDO1, TNXB, WRN, ZMPSTE24)

Oculocutaneous tyrosinaemia(ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14, CAST, CDSN, CLDN1, CSTA, CTSC, CYP4F22, DKC1, DOLK, DSG1, DSP, EBP, ELOVL4, ENPP1, ERCC2, ERCC3, FERMT1, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, GTF2H5, HPGD, JUP, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LIPH, LIPN, MAP2K1, MAP2K2, MBTPS2, MPLKIP, MVK, NHP2, NIPAL4, NLRP1, NOP10, NSDHL, PEX5, PEX7, PHGDH, PHYH, PIGL, PKP1, PNPLA1, POMP, PSAT1, PTEN, RHBDF2, RSPO1, SLC27A4, SLCO2A1, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SUMF1, TAT, TERC, TERT, TGM1, TINF2, TP63, TRPV3, VIPAS39, VPS33B, WNT10A, WRAP53)

Oculodentodigital dysplasia(ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, FGF10, FGFR2, FGFR3, FLNA, FOXN1, GJA1, GJB2, GJB6, GRHL2, HCCS, IFT122, IFT43, IKBKG, KRT14, KRT16, KRT17, KRT81, KRT83, KRT85, KRT86, MBTPS2, MPLKIP, MSX1, NFKBIA, NOP10, OFD1, PEX1, PEX6, PIGL, PKP1, PNPLA6, PORCN, PVRL1, PVRL4, RECQL4, RIPK4, RMRP, RNF113A, ROGDI, SETBP1, TBC1D24, TBX3, TERC, TP63, TRAF6, TRPS1, TWIST2, UBR1, WDR19, WNT10A)

Odontoonychodermal dysplasia(ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14, CAST, CDSN, CLDN1, CSTA, CTSC, CYP4F22, DKC1, DOLK, DSG1, DSP, EBP, ELOVL4, ENPP1, ERCC2, ERCC3, FERMT1, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, GTF2H5, HPGD, JUP, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LIPH, LIPN, MAP2K1, MAP2K2, MBTPS2, MPLKIP, MVK, NHP2, NIPAL4, NLRP1, NOP10, NSDHL, PEX5, PEX7, PHGDH, PHYH, PIGL, PKP1, PNPLA1, POMP, PSAT1, PTEN, RHBDF2, RSPO1, SLC27A4, SLCO2A1, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SUMF1, TAT, TERC, TERT, TGM1, TINF2, TP63, TRPV3, VIPAS39, VPS33B, WNT10A, WRAP53)

Oliver-McFarlane syndrome(ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, FGF10, FGFR2, FGFR3, FLNA, FOXN1, GJA1, GJB2, GJB6, GRHL2, HCCS, IFT122, IFT43, IKBKG, KRT14, KRT16, KRT17, KRT81, KRT83, KRT85, KRT86, MBTPS2, MPLKIP, MSX1, NFKBIA, NOP10, OFD1, PEX1, PEX6, PIGL, PKP1, PNPLA6, PORCN, PVRL1, PVRL4, RECQL4, RIPK4, RMRP, RNF113A, ROGDI, SETBP1, TBC1D24, TBX3, TERC, TP63, TRAF6, TRPS1, TWIST2, UBR1, WDR19, WNT10A)

Olmsted syndrome(ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14, CAST, CDSN, CLDN1, CSTA, CTSC, CYP4F22, DKC1, DOLK, DSG1, DSP, EBP, ELOVL4, ENPP1, ERCC2, ERCC3, FERMT1, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, GTF2H5, HPGD, JUP, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LIPH, LIPN, MAP2K1, MAP2K2, MBTPS2, MPLKIP, MVK, NHP2, NIPAL4, NLRP1, NOP10, NSDHL, PEX5, PEX7, PHGDH, PHYH, PIGL, PKP1, PNPLA1, POMP, PSAT1, PTEN, RHBDF2, RSPO1, SLC27A4, SLCO2A1, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SUMF1, TAT, TERC, TERT, TGM1, TINF2, TP63, TRPV3, VIPAS39, VPS33B, WNT10A, WRAP53)

Oro-facio-digital syndrome(ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, FGF10, FGFR2, FGFR3, FLNA, FOXN1, GJA1, GJB2, GJB6, GRHL2, HCCS, IFT122, IFT43, IKBKG, KRT14, KRT16, KRT17, KRT81, KRT83, KRT85, KRT86, MBTPS2, MPLKIP, MSX1, NFKBIA, NOP10, OFD1, PEX1, PEX6, PIGL, PKP1, PNPLA6, PORCN, PVRL1, PVRL4, RECQL4, RIPK4, RMRP, RNF113A, ROGDI, SETBP1, TBC1D24, TBX3, TERC, TP63, TRAF6, TRPS1, TWIST2, UBR1, WDR19, WNT10A)

Orotic aciduria(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Other renal disorders(ABCG2, AHI1, ALDH16A1, ALMS1, ANOS1, BCS1L, C3, CCBE1, CD151, CDC73, CEP41, CFH, CFHR5, COL4A1, CPT2, DHCR7, FGF20, FN1, FREM1, GATA3, GPC3, H19, HSD11B2, IFT140, JAG1, KAT6B, KMT2D, LRP4, MBTPS2, MKKS, NEK8, NIPBL, NOTCH2, NPHP3, NSD1, SALL1, SALL4, SLC17A3, SLC2A9, SPRY2, TMEM138, TMEM216, VIPAS39, VPS33B, WNT4)

Occipital horn syndrome(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Oculodentodigital dysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Oculodentoosseous dysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Omodysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Oro-facio-digital syndrome(CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3, GREM1, GRIP1, HYLS1, HOXD13, ICK, KIF7, LMBR1, LRP4, MKKS, MKS1, NOG, OFD1, RAB23, RPGRIP1L, SALL1, TMEM216, TMEM67, WDPCP)

Osteoarthritis with mild chondrodysplasia(ANKH, CHST3, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDX58, HPGD, IL1RN, IL6, KIF22, LPIN2, MATN3, MMP2, NLRP3, PAPSS2, PRG4, PSMB8, SLC26A2, SLCO2A1, SMAD3, TRPV4, WISP3)

Osteogenesis imperfecta (OI)(ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MMP2, NOTCH2, P3H1, PLOD2, PLOD3, PPIB, PYCR1, SERPINF1, SERPINH1, SLC7A7, SP7, TMEM165, VDR, XYLT2)

Osteoglophonic dysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Osteolysis related disorders(ANTXR2, BANF1, COL3A1, CTSC, CTSK, DDX58, FLNA, HPGD, IFIH1, IL1RN, LMNA, MAFB, MMP14, MMP2, NOTCH2, RUNX2, SQSTM1, TNFRSF11A, WNK1, ZMPSTE24)

Osteopathia striata with cranial sclerosis(AMER1, CA2, CLCN7, IKBKG, LEMD3, LRP5, MITF, OSTM1, PLEKHM1, SNX10, SQSTM1, TCIRG1, TNFRSF11A, TNFRSF11B, TNFSF11)

Osteopetrosis and related disorders(AMER1, CA2, CLCN7, IKBKG, LEMD3, LRP5, MITF, OSTM1, PLEKHM1, SNX10, SQSTM1, TCIRG1, TNFRSF11A, TNFRSF11B, TNFSF11)

Osteoporosis-pseudoglioma syndrome(ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MMP2, NOTCH2, P3H1, PLOD2, PLOD3, PPIB, PYCR1, SERPINF1, SERPINH1, SLC7A7, SP7, TMEM165, VDR, XYLT2)

Otopalatodigital syndrome(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Otospondylomegaepiphyseal dysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Ovarian cancer(ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11*, TP53)

Ovarian cancer(BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, STK11, TP53)

Overgrowth syndromes with skeletal involvement(DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, SKI, SMAD3, SOST, TGFB2, TGFB3, TGFBR1, TGFBR2)

Orolaryngeal cancer, multiple (CDKN2A)

OAS1(OAS1)

OAS2(OAS2)

OAT(OAT)

OAZ1(OAZ1)

OBSCN(OBSCN)

OBSL1(OBSL1)

OCA2(OCA2)

OCLN(OCLN)

OCRL(OCRL)

ODC1(ODC1)

OFD1(OFD1)

OGG1(OGG1)

OLFM2(OLFM2)

OLR1(OLR1)

OMG(OMG)

OPA1(OPA1)

OPA3(OPA3)

OPCML(OPCML)

OPHN1(OPHN1)

OPN1LW(OPN1LW)

OPN1MW(OPN1MW)

OPN1SW(OPN1SW)

OPN4(OPN4)

OPRD1(OPRD1)

OPRK1(OPRK1)

OPRL1(OPRL1)

OPRM1(OPRM1)

OPTC(OPTC)

OPTN(OPTN)

OR13G1(OR13G1)

OR7D4(OR7D4)

ORAI1(ORAI1)

ORC1(ORC1)

ORC4(ORC4)

ORC6(ORC6)

ORMDL3(ORMDL3)

OSMR(OSMR)

OSR1(OSR1)

OSTM1(OSTM1)

OTC(OTC)

OTOA(OTOA)

OTOF(OTOF)

OTOR(OTOR)

OTX2(OTX2)

OVGP1(OVGP1)

OXCT1(OXCT1)

OXTR(OXTR)

Omenn syndrome(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Ovarian dysgenesis(BMP15, C10orf2, FSHR, HARS2, HSD17B4, LARS2, PSMC3IP)

Ovarian dysgenesis(BMP15, C10orf2, FSHR, HARS2, HSD17B4, LARS2, PSMC3IP)

Ovarioleukodystrophy(AARS2, BMP15, DIAPH2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, FIGLA, FMR1, GALT, LARS2, LMNA, NOBOX, NR5A1, POF1B)

Osteoporosis(ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MMP2, NOTCH2, P3H1, PLOD2, PLOD3, PPIB, PYCR1, SERPINF1, SERPINH1, SLC7A7, SP7, TMEM165, VDR, XYLT2)