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Disorder Names

  • Darier disease (AQP5, ATP2A2, ATP2C1, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSC3, DSG1, DSP, DST, ....)
  • D-bifunctional protein deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Congenital contractural arachnodactyly (DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, ....)
  • Defects in calcium homeostasis (CASR....)
  • Cornelia de Lange syndrome (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Defects in magnesium homeostasis (CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, SLC12A3, TRPM6....)
  • Defects in renal phosphate handling (CLCN5, DMP1, FAM20C, FGF23, FGFR1, GALNT3, KL, LMX1B, PHEX, SLC34A1, SLC34A3, TF....)
  • Defects of renal handling of amino acids (SLC1A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9....)
  • Dejerine-Sottas disease (AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10or....)
  • Delta-beta thalassemia (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Delta-thalassemia (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Dent disease (ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ARSA, CLCN5, ETFA, ETFB, ETFDH, OCRL....)
  • Costello syndrome (BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, SHOC....)
  • Dermatopathia pigmentosa reticularis (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Costello syndrome (HRAS....)
  • Cousin syndrome (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Desmosterolosis (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • D-glyceric aciduria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Diamond-Blackfan anemia (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Cowden syndrome (CS) (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2,....)
  • Craniodiaphyseal dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Dicarboxylic aminoaciduria (SLC1A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9....)
  • Dicarboxylic aminoaciduria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Diffuse mesangial sclerosis (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)
  • Dihydrolipoamide dehydrogenase deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Dihydropyrimidine dehydrogenase deficiency (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Dihydropyrimidinuria (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Dilated cardiomyopathy (ABCC9, ACE, ACTC1, ACTN2, AGT, ANKRD1, BAG3, BMP10, CASQ2, CHRM2, COX15, CRYAB, ....)
  • Dilated cardiomyopathy with woolly hair and keratoderma (ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1,....)
  • Dimethylglycine dehydrogenase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Disorders in the metabolism of trace elements and metals (HFE, ABCB6, ATP7A, ATP7B, CLDN16, CLDN19, CNNM2, CP, EGF, FTH1, FXYD2, HAMP, HFE....)
  • Disorders of amino acid and peptide metabolism (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Disorders of carbohydrate metabolism (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • Disorders of Collagen, Elastin and Dermal Matrix (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Disorders of creatine metabolism (MT, GATM, SLC6A8....)
  • Disorders of fatty acid, ketone and energy metabolism (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Disorders of lipid and lipoprotein metabolism (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Disorders of neurotransmitters metabolism (ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, M....)
  • Disorders of porphyrin and heme metabolism (ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GA....)
  • Disorders of purines, pyrimidines and nucleotide metabolism (ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA....)
  • Disorders of the metabolism of sterols (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Disorders of vitamins and co-factor metabolism (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • DNA repair disorders with cutaneous features (BLM, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, MPLKIP, POLH....)
  • DOOR syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Dopamine beta-hydroxylase deficiency (ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, M....)
  • Dopamine-responsive dystonia (ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BC....)
  • Cranioectodermal dysplasia (ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2....)
  • Duchenne muscular dystrophy (ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, ....)
  • Craniofacial-deafness-hand syndrome (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Dyschromatosis symmetrica hereditaria (ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143....)