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Disorder Names

  • Ichthyosis (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • IFAP syndrome with or without BRESHECK syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • IFAP syndrome with or without BRESHECK syndrome (ABCG2, AHI1, ALDH16A1, ALMS1, ANOS1, BCS1L, C3, CCBE1, CD151, CDC73, CEP41, CFH,....)
  • Iminoglycinuria (SLC1A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9....)
  • Iminoglycinuria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Inclusion body myopathy (ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1,....)
  • Incontinentia pigmenti (ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143....)
  • Inosine triphosphatase deficiency (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Intellectual disability (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Intrinsic factor deficiency (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Iron-refractory iron deficiency anemia (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Iron-sulfur (Fe-S) cluster biogenesis (ABCB7, BOLA3, CYB5A, CYB5R3, FXN, HTRA2, ISCU, NFU1....)
  • Isobutyryl-CoA dehydrogenase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Isolated renal hypomagnesemia (CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, SLC12A3, TRPM6....)
  • Isovaleric acidemia (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Idiopathic juvenile osteoporosis (ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1,....)
  • Ischiocoxopodopatellar syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • IVIC syndrome (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • IAPP (IAPP....)
  • IBSP (IBSP....)
  • ICAM1 (ICAM1....)
  • ICAM4 (ICAM4....)
  • ICAM5 (ICAM5....)
  • ICK (ICK....)
  • ICOS (ICOS....)
  • ID3 (ID3....)
  • IDE (IDE....)
  • IDH1 (IDH1....)
  • IDH2 (IDH2....)
  • IDH3B (IDH3B....)
  • IDO1 (IDO1....)
  • IDS (IDS....)
  • IDUA (IDUA....)
  • IER3IP1 (IER3IP1....)
  • IFI30 (IFI30....)
  • IFI44L (IFI44L....)
  • IFIH1 (IFIH1....)
  • IFITM3 (IFITM3....)
  • IFITM5 (IFITM5....)
  • IFNA10 (IFNA10....)
  • IFNA17 (IFNA17....)
  • IFNA2 (IFNA2....)
  • IFNAR1 (IFNAR1....)
  • IFNAR2 (IFNAR2....)
  • IFNG (IFNG....)
  • IFNGR1 (IFNGR1....)
  • IFNGR2 (IFNGR2....)
  • IFNL3 (IFNL3....)
  • IFRD1 (IFRD1....)
  • IFT122 (IFT122....)
  • IFT140 (IFT140....)
  • IFT43 (IFT43....)
  • IFT80 (IFT80....)
  • IGBP1 (IGBP1....)
  • IGF1 (IGF1....)
  • IGF1R (IGF1R....)
  • IGF2 (IGF2....)
  • IGF2R (IGF2R....)
  • IGFALS (IGFALS....)
  • IGFBP1 (IGFBP1....)
  • IGFBP3 (IGFBP3....)
  • IGFBP5 (IGFBP5....)
  • IGFBP7 (IGFBP7....)
  • IGHA1 (IGHA1....)
  • IGHG2 (IGHG2....)
  • IGHM (IGHM....)
  • IGHMBP2 (IGHMBP2....)
  • IGKV (IGKV....)
  • IGLL1 (IGLL1....)
  • IHH (IHH....)
  • IKBIP (IKBIP....)
  • IKBKAP (IKBKAP....)
  • IKBKG (IKBKG....)
  • IL10 (IL10....)
  • IL10RA (IL10RA....)
  • IL10RB (IL10RB....)
  • IL11RA (IL11RA....)
  • IL12A (IL12A....)
  • IL12B (IL12B....)
  • IL12RB1 (IL12RB1....)
  • IL12RB2 (IL12RB2....)
  • IL13 (IL13....)
  • IL16 (IL16....)
  • IL17A (IL17A....)
  • IL17F (IL17F....)
  • IL17RA (IL17RA....)
  • IL17RB (IL17RB....)
  • IL17REL (IL17REL....)
  • IL18 (IL18....)
  • IL18R1 (IL18R1....)
  • IL18RAP (IL18RAP....)
  • IL19 (IL19....)
  • IL1A (IL1A....)
  • IL1B (IL1B....)
  • IL1R1 (IL1R1....)
  • IL1RAPL1 (IL1RAPL1....)
  • IL1RL1 (IL1RL1....)
  • IL1RN (IL1RN....)
  • IL2 (IL2....)
  • IL20RA (IL20RA....)
  • IL20RB (IL20RB....)
  • IL21 (IL21....)
  • IL21R (IL21R....)
  • IL23R (IL23R....)
  • IL2RA (IL2RA....)
  • IL2RG (IL2RG....)
  • IL3 (IL3....)
  • IL31RA (IL31RA....)
  • IL36RN (IL36RN....)
  • IL4 (IL4....)
  • IL4R (IL4R....)
  • IL5 (IL5....)
  • IL6 (IL6....)
  • IL6R (IL6R....)
  • IL7 (IL7....)
  • IL7R (IL7R....)
  • IL8 (IL8....)
  • IL9 (IL9....)
  • IL9R (IL9R....)
  • ILDR1 (ILDR1....)
  • ILK (ILK....)
  • IMMP2L (IMMP2L....)
  • IMMT (IMMT....)
  • IMPA2 (IMPA2....)
  • IMPAD1 (IMPAD1....)
  • IMPDH1 (IMPDH1....)
  • IMPDH2 (IMPDH2....)
  • IMPG2 (IMPG2....)
  • INF2 (INF2....)
  • INHA (INHA....)
  • INMT (INMT....)
  • INPP4A (INPP4A....)
  • INPP5E (INPP5E....)
  • INS (INS....)
  • INSIG1 (INSIG1....)
  • INSIG2 (INSIG2....)
  • INSL3 (INSL3....)
  • INSL6 (INSL6....)
  • INSR (INSR....)
  • INVS (INVS....)
  • IQCB1 (IQCB1....)
  • IQGAP1 (IQGAP1....)
  • IQGAP2 (IQGAP2....)
  • IQGAP3 (IQGAP3....)
  • IQSEC2 (IQSEC2....)
  • IRAK1 (IRAK1....)
  • IRAK3 (IRAK3....)
  • IRAK4 (IRAK4....)
  • IRF1 (IRF1....)
  • IRF2 (IRF2....)
  • IRF4 (IRF4....)
  • IRF5 (IRF5....)
  • IRF6 (IRF6....)
  • IRF7 (IRF7....)
  • IRF8 (IRF8....)
  • IRGM (IRGM....)
  • IRS1 (IRS1....)
  • IRS2 (IRS2....)
  • IRS4 (IRS4....)
  • IRX4 (IRX4....)
  • IRX5 (IRX5....)
  • ISCU (ISCU....)
  • ISL1 (ISL1....)
  • ISPD (ISPD....)
  • ISYNA1 (ISYNA1....)
  • ITCH (ITCH....)
  • ITGA11 (ITGA11....)
  • ITGA2 (ITGA2....)
  • ITGA2B (ITGA2B....)
  • ITGA3 (ITGA3....)
  • ITGA4 (ITGA4....)
  • ITGA6 (ITGA6....)
  • ITGA7 (ITGA7....)
  • ITGA9 (ITGA9....)
  • ITGAE (ITGAE....)
  • ITGAM (ITGAM....)
  • ITGB2 (ITGB2....)
  • ITGB3 (ITGB3....)
  • ITGB4 (ITGB4....)
  • ITIH1 (ITIH1....)
  • ITIH3 (ITIH3....)
  • ITIH4 (ITIH4....)
  • ITIH6 (ITIH6....)
  • ITK (ITK....)
  • ITM2B (ITM2B....)
  • ITPA (ITPA....)
  • ITPKC (ITPKC....)
  • ITPR1 (ITPR1....)
  • ITPR3 (ITPR3....)
  • ITSN2 (ITSN2....)
  • IVD (IVD....)
  • IYD (IYD....)
  • Inflammatory bowel disease 25, early onset, autosomal recessive (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Inflammatory bowel disease 28, early onset, autosomal recessive (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Inflammatory skin and bowel disease, neonatal, 1 (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Interleukin 1 receptor antagonist deficiency (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • Immunodeficiency 10 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 14 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 17, CD3 gamma deficient (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 18 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 19 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 20 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 25 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 26, with or without neurologic abnormalities (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 35 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 37 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 39 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 43 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 45 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 46 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 48 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 8 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency 9 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency with hyper-IgM, type 3 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency, common variable, 11 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency, common variable, 12 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency, common variable, 5 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency, primary, autosomal recessive, IL21R-related (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency, X-linked, with hyper-IgM (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Immunodeficiency due to ficolin 3 deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • Immunodeficiency 21 (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Immunodeficiency 27A, mycobacteriosis (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Immunodeficiency 28, mycobacteriosis (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Immunodeficiency 29, mycobacteriosis (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Immunodeficiency 30 (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Immunodeficiency 31A (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Immunodeficiency 31B (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Immunodeficiency 31C (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Immunodeficiency 32A, 32B (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Immunodeficiency 32B (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Immunodeficiency 34, mycobacteriosis, X-linked (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Immunodeficiency 20 (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • IRAK4 deficiency (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Immune dysregulation diseases (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Immunodeficiency 41 with lymphoproliferation and autoimmunity (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Immunodeficiency 14 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Immunodeficiency 36 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Immunodeficiency with hyper IgM, type 5 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Immunodeficiency with hyper-IgM, type 2 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Immunodeficiency with hyper-IgM, type 3 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Immunodeficiency, common variable, 1 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Immunodeficiency, common variable, 2 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Immunodeficiency, common variable, 3 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Immunodeficiency, common variable, 6 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Immunodeficiency, common variable, 7 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)
  • Immunoglobulin A deficiency 2 (AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL....)