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Disorder Names

  • Baller-Gerold syndrome (BLM, CTC1, DKC1, FERMT1, NHP2, NOP10, RECQL4, TERC, TERT, TINF2, USB1, WRAP53....)
  • Bannayan-Riley-Ruvalcaba syndrome (ACVRL1, CCBE1, CCM2, ENG, F12, FLT4, GATA2, GLMN, HRAS, KRIT1, PDCD10, PTEN, PTP....)
  • Bannayan-Riley-Ruvalcaba syndrome (ABCC9, ADK, AKT3, AMER1, ANKH, ARSB, ASPA, B4GALT1, B4GALT7, BANF1, BRWD3, CUL4B....)
  • Baller-Gerold syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Bannayan-Riley-Ruvalcaba syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Barakat syndrome (ABCG2, AHI1, ALDH16A1, ALMS1, ANOS1, BCS1L, C3, CCBE1, CD151, CDC73, CEP41, CFH,....)
  • Barber-Say syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Bannayan-Riley-Ruvalcaba syndrome (BRRS) (APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK....)
  • Bardet-Biedl syndrome (ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CEP290, LZTFL1,....)
  • Barth syndrome (ABCC9, ACE, ACTC1, ACTN2, AGT, ANKRD1, BAG3, BMP10, CASQ2, CHRM2, COX15, CRYAB, ....)
  • Barth syndrome (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Bart-Pumphrey syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Bartter syndrome (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1....)
  • Baraitser-Winter syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Becker muscular dystrophy (ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, ....)
  • Bardet-Biedl syndrome (ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2....)
  • Beta-thalassemia (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Beta-ureidopropionase deficiency (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Bethlem myopathy (ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1,....)
  • Bile acid synthesis defect (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Biotinidase deficiency (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Birk Barel mental retardation dysmorphism syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Björnstad syndrome (ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1,....)
  • Blistering diseases (AQP5, ATP2A2, ATP2C1, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSC3, DSG1, DSP, DST, ....)
  • Bloom syndrome (BLM, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, MPLKIP, POLH....)
  • Bohring-Opitz syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Basal cell nevus syndrome (PTCH1, SUFU....)
  • Beare-Stevenson cutis gyrata syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Borjeson-Forssman-Lehmann syndrome (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Borjeson-Forssman-Lehmann syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Bowen-Conradi syndrome (ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1,....)
  • Brachio-oto-renal syndrome (AGL, ALDOB, ATP7B, COX10, COX6B1, CTNS, EYA1, FAH, FASTKD2, G6PC, GALT, GLA, HPR....)
  • Bent bone dysplasia syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Brain malformations‡ (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Branchiooculofacial syndrome (CLCN5, DMP1, FAM20C, FGF23, FGFR1, GALNT3, KL, LMX1B, PHEX, SLC34A1, SLC34A3, TF....)
  • Brody myopathy (ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1,....)
  • Birt-Hogg-Dubé syndrome (FH, FLCN, MET, TSC1, TSC2, VHL, WT1....)
  • Brugada syndrome (ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ....)
  • Brunner syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Brunner syndrome (ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, M....)
  • Buschke-Ollendorff syndrome (ARHGAP31, DOCK6, IDS, KRT4, LEMD3, NOTCH1, TEK....)
  • Birt-Hogg-Dubé syndrome (FLCN....)
  • Bloom syndrome (BLM....)
  • Bone fragility with contractures, arterial rupture, and deafness (Lysyl hydroxylase 3 deficiency) (ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1,....)
  • Boomerang dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Bowen-Conradi syndrome (ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1....)
  • Brachydactyly (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Breast and ovarian cancer (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2,....)
  • Breast cancer (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2,....)
  • Brooke-Spiegler syndrome (CYLD....)
  • Bruck syndrome (ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1,....)
  • B2M (B2M....)
  • B3GALNT1 (B3GALNT1....)
  • B3GALT6 (B3GALT6....)
  • B3GALTL (B3GALTL....)
  • B3GAT3 (B3GAT3....)
  • B3GNT1 (B3GNT1....)
  • B3GNT3 (B3GNT3....)
  • B4GALT1 (B4GALT1....)
  • B4GALT7 (B4GALT7....)
  • B9D1 (B9D1....)
  • B9D2 (B9D2....)
  • BAALC (BAALC....)
  • BAAT (BAAT....)
  • BACE1 (BACE1....)
  • BAG3 (BAG3....)
  • BAG6 (BAG6....)
  • BANF1 (BANF1....)
  • BANK1 (BANK1....)
  • BAP1 (BAP1....)
  • BARD1 (BARD1....)
  • BAX (BAX....)
  • BBS1 (BBS1....)
  • BBS10 (BBS10....)
  • BBS12 (BBS12....)
  • BBS2 (BBS2....)
  • BBS4 (BBS4....)
  • BBS5 (BBS5....)
  • BBS7 (BBS7....)
  • BBS9 (BBS9....)
  • BCAM (BCAM....)
  • BCAP31 (BCAP31....)
  • BCAT1 (BCAT1....)
  • BCAT2 (BCAT2....)
  • BCHE (BCHE....)
  • BCKDHA (BCKDHA....)
  • BCKDHB (BCKDHB....)
  • BCL10 (BCL10....)
  • BCL11A (BCL11A....)
  • BCL2 (BCL2....)
  • BCL2A1 (BCL2A1....)
  • BCL2L11 (BCL2L11....)
  • BCL2L2 (BCL2L2....)
  • BCL9 (BCL9....)
  • BCMO1 (BCMO1....)
  • BCOR (BCOR....)
  • BCORL1 (BCORL1....)
  • BCR (BCR....)
  • BCS1L (BCS1L....)
  • BDKRB2 (BDKRB2....)
  • BDNF (BDNF....)
  • BEAN1 (BEAN1....)
  • BEST1 (BEST1....)
  • BEX4 (BEX4....)
  • BFSP1 (BFSP1....)
  • BFSP2 (BFSP2....)
  • BHLHA9 (BHLHA9....)
  • BHLHE41 (BHLHE41....)
  • BHMT (BHMT....)
  • BICC1 (BICC1....)
  • BICD1 (BICD1....)
  • BIN1 (BIN1....)
  • BIRC5 (BIRC5....)
  • BLK (BLK....)
  • BLM (BLM....)
  • BLMH (BLMH....)
  • BLNK (BLNK....)
  • BLOC1S3 (BLOC1S3....)
  • BLOC1S6 (BLOC1S6....)
  • BLVRA (BLVRA....)
  • BMI1 (BMI1....)
  • BMP1 (BMP1....)
  • BMP10 (BMP10....)
  • BMP15 (BMP15....)
  • BMP2 (BMP2....)
  • BMP2K (BMP2K....)
  • BMP4 (BMP4....)
  • BMP5 (BMP5....)
  • BMP7 (BMP7....)
  • BMPER (BMPER....)
  • BMPR1A (BMPR1A....)
  • BMPR1B (BMPR1B....)
  • BMPR2 (BMPR2....)
  • BNC2 (BNC2....)
  • BOLA3 (BOLA3....)
  • BPGM (BPGM....)
  • BPI (BPI....)
  • BPIFA1 (BPIFA1....)
  • BPY2 (BPY2....)
  • BRAF (BRAF....)
  • BRAP (BRAP....)
  • BRAT1 (BRAT1....)
  • BRCA1 (BRCA1....)
  • BRCA2 (BRCA2....)
  • BRCC3 (BRCC3....)
  • BRD1 (BRD1....)
  • BRIP1 (BRIP1....)
  • BRSK2 (BRSK2....)
  • BRWD1 (BRWD1....)
  • BRWD3 (BRWD3....)
  • BSCL2 (BSCL2....)
  • BSG (BSG....)
  • BSND (BSND....)
  • BST1 (BST1....)
  • BTAF1 (BTAF1....)
  • BTBD9 (BTBD9....)
  • BTC (BTC....)
  • BTD (BTD....)
  • BTK (BTK....)
  • BTLA (BTLA....)
  • BTN1A1 (BTN1A1....)
  • BTN2A1 (BTN2A1....)
  • BTNL2 (BTNL2....)
  • BTRC (BTRC....)
  • BUB1B (BUB1B....)
  • Blau syndrome (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Bare lymphocyte syndrome, type I (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Bare lymphocyte syndrome, type II (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Bloom syndrome (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Barth syndrome (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Boucher-Neuhauser syndrome (BMP2, CHD7, DCAF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, HFE, KAL1, KISS1, LHB, LMNA....)