"Supporting Information Table 1. Curated Morbid Map file with disease ID and class assignment (December 21, 2005 version)." Disease ID Disorder name Gene symbols OMIM ID Chromosome Class 1 "17,20-lyase deficiency, isolated, 202110 (3)" "CYP17A1, CYP17, P450C17" 609300 10q24.3 Endocrine 1 "17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)" "CYP17A1, CYP17, P450C17" 609300 10q24.3 Endocrine 3 "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, 300438 (3)" "HADH2, ERAB" 300256 Xp11.2 Metabolic 4 2-methylbutyrylglycinuria (3) ACADSB 600301 10q25-q26 Metabolic 5 "3-beta-hydroxysteroid dehydrogenase, type II, deficiency (3)" HSD3B2 201810 1p13.1 Metabolic 6 "3-hydroxyacyl-CoA dehydrogenase deficiency, 609609 (3)" "HADHSC, SCHAD" 601609 4q22-q26 Metabolic 7 "3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)" "MCCC1, MCCA" 609010 3q25-q27 Metabolic 7 "3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)" "MCCC2, MCCB" 609014 5q12-q13 Metabolic 8 "3-methylglutaconic aciduria, type I, 250950 (3)" AUH 600529 Chr.9 Metabolic 9 "3-methylglutaconicaciduria, type III, 258501 (3)" "OPA3, MGA3" 606580 19q13.2-q13.3 Metabolic 10 "3-M syndrome, 273750 (3)" CUL7 609577 6p21.1 multiple 12 6-mercaptopurine sensitivity (3) TPMT 187680 6p22.3 Metabolic 13 Aarskog-Scott syndrome (3) "FGD1, FGDY, AAS" 305400 Xp11.21 multiple 14 "Abacavir hypersensitivity, susceptibility to (3)" HLA-B 142830 6p21.3 Immunological 15 "ABCD syndrome, 600501 (3)" "EDNRB, HSCR2, ABCDS" 131244 13q22 multiple 17 "Abetalipoproteinemia, 200100 (3)" MTP 157147 4q22-q24 Metabolic 17 Abetalipoproteinemia (3) "APOB, FLDB" 107730 2p24 Metabolic 18 "Acampomelic campolelic dysplasia, 114290 (3)" "SOX9, CMD1, SRA1" 608160 17q24.3-q25.1 Skeletal 21 Acatalasemia (3) CAT 115500 11p13 Hematological 22 "Accelerated tumor formation, susceptibility to (3)" MDM2 164785 12q14.3-q15 Cancer 24 "Achalasia-addisonianism-alacrimia syndrome, 231550 (3)" "AAAS, AAA" 605378 12q13 multiple 25 "Acheiropody, 200500 (3)" "C7orf2, ACHP, LMBR1" 605522 7q36 Skeletal 26 "Achondrogenesis-hypochondrogenesis, type II, 200610 (3)" COL2A1 120140 12q13.11-q13.2 Bone 27 "Achondrogenesis Ib, 600972 (3)" "SLC26A2, DTD, DTDST, D5S1708, EDM4" 606718 5q32-q33.1 Bone 28 "Achondroplasia, 100800 (3)" "FGFR3, ACH" 134934 4p16.3 Skeletal 29 "Achromatopsia-2, 216900 (3)" "CNGA3, CNG3, ACHM2" 600053 2q11 Ophthamological 29 "Achromatopsia-3, 262300 (3)" "CNGB3, ACHM3" 605080 8q21-q22 Ophthamological 29 Achromatopsia-4 (3) "GNAT2, ACHM4" 139340 1p13 Ophthamological 30 "Acid-labile subunit, deficiency of (3)" "IGFALS, ALS" 601489 16p13.3 Endocrine 31 "Acquired long QT syndrome, susceptibility to (3)" "KCNH2, LQT2, HERG" 152427 7q35-q36 Cardiovascular 32 "Acrocallosal syndrome, 200990 (3)" "GLI3, PAPA, PAPB, ACLS" 165240 7p13 multiple 33 "Acrocapitofemoral dysplasia, 607778 (3)" "IHH, BDA1" 600726 2q33-q35 Skeletal 34 "Acrodermatitis enteropathica, 201100 (3)" "SLC39A4, ZIP4" 607059 8q24.3 Dermatological 36 "Acrokeratosis verruciformis, 101900 (3)" "ATP2A2, ATP2B, DAR" 108740 12q23-q24.1 Dermatological 38 "Acromegaly, 102200 (3)" "GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO" 139320 20q13.2 Endocrine 38 "Acromegaly, 102200 (3)" SSTR5 182455 16p13.3 Endocrine 39 "Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3)" "GDF5, CDMP1" 601146 20q11.2 Skeletal 39 "Acromesomelic dysplasia, Maroteaux type, 602875 (3)" "NPR2, ANPRB, AMDM" 108961 9p21-p12 Skeletal 44 "Acyl-CoA dehydrogenase, long chain, deficiency of (3)" "ACADL, LCAD" 201460 2q34-q35 Metabolic 44 "Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)" "ACADM, MCAD" 607008 1p31 Metabolic 44 "Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)" "ACADS, SCAD" 606885 12q22-qter Metabolic 45 "Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)" EGFR 131550 7p12.3-p12.1 Cancer 45 "Adenocarcinoma of lung, somatic, 211980 (3)" BRAF 164757 7q34 Cancer 45 "Adenocarcinoma of lung, somatic, 211980 (3)" "ERBB2, NGL, NEU, HER2" 164870 17q21.1 Cancer 45 "Adenocarcinoma of lung, somatic, 211980 (3)" "PRKN, PARK2, PDJ" 602544 6q25.2-q27 Cancer 45 "Adenocarcinoma, ovarian, somatic (3)" "PRKN, PARK2, PDJ" 602544 6q25.2-q27 Cancer 46 "Adenoma, periampullary (3)" "APC, GS, FPC" 175100 5q21-q22 Cancer 47 "Adenomas, multiple colorectal, 608456 (3)" MUTYH 604933 1p34.3-p32.1 Cancer 47 "Adenomas, salivary gland pleomorphic, 181030 (3)" "PLAG1, SGPA, PSA" 603026 8q12 Cancer 47 Adenomatous polyposis coli (3) "APC, GS, FPC" 175100 5q21-q22 Cancer 47 "Adenomatous polyposis coli, attenuated (3)" "APC, GS, FPC" 175100 5q21-q22 Cancer 49 "Adenosine deaminase deficiency, partial, 102700 (3)" ADA 608958 20q13.11 Immunological 50 "Adenylosuccinase deficiency, 103050 (3)" ADSL 608222 22q13.1 Metabolic 52 Adiponectin deficiency (3) "APM1, GBP28" 605441 3q27 Endocrine 2053 "Adrenal adenoma, sporadic (3)" MEN1 131100 11q13 Cancer 2054 "Adrenal cortical carcinoma, 202300 (3)" "TP53, P53, LFS1" 191170 17p13.1 Cancer 53 "Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (3)" "CYP11B1, P450C11, FHI" 202010 8q21 Endocrine 53 "Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (3)" "CYP21A2, CYP21, CA21H" 201910 6p21.3 Endocrine 53 "Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency, 201750 (3)" POR 124015 7q11.2 Endocrine 53 "Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200 (3)" "DAX1, AHC, AHX, NROB1" 300473 Xp21.3-p21.2 Endocrine 2055 Adrenocortical insufficiency without ovarian defect (3) "FTZF1, FTZ1, SF1" 184757 9q33 Endocrine 54 "Adrenocortical tumor, somatic (3)" "PRKAR1A, TSE1, CNC1, CAR" 188830 17q23-q24 Cancer 55 "Adrenocorticotropic hormone deficiency, 201400 (3)" TBS19 604614 1q23-q24 Endocrine 56 "Adrenoleukodystrophy, 300100 (3)" "ABCD1, ALD, AMN" 300371 Xq28 Neurological 56 "Adrenoleukodystrophy, neonatal, 202370 (3)" "PEX10, NALD" 602859 Chr.1 Neurological 56 "Adrenoleukodystrophy, neonatal, 202370 (3)" "PEX13, ZWS, NALD" 601789 2p15 Neurological 56 "Adrenoleukodystrophy, neonatal, 202370 (3)" "PEX1, ZWS1" 602136 7q21-q22 Neurological 56 "Adrenoleukodystrophy, neonatal, 202370 (3)" PEX26 608666 22q11.21 Neurological 56 "Adrenoleukodystrophy, neonatal, 202370 (3)" "PXR1, PEX5, PTS1R" 600414 12p13.3 Neurological 57 "Adrenomyeloneuropathy, 300100 (3)" "ABCD1, ALD, AMN" 300371 Xq28 Metabolic 58 "Adult i phenotype with congenital cataract, 110800 (3)" GCNT2 600429 6p24-p23 Hematological 58 "Adult i phenotype without cataract, 110800 (3)" GCNT2 600429 6p24-p23 Hematological 59 "ADULT syndrome, 103285 (3)" "TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS" 603273 3q27 multiple 60 "Advanced sleep phase syndrome, familial, 604348 (3)" "PER2, FASPS, KIAA0347" 603426 2q37.3 Neurological 61 "Afibrinogenemia, 202400 (3)" FGA 134820 4q28 Hematological 61 "Afibrinogenemia, congenital, 202400 (3)" FGB 134830 4q28 Hematological 63 "Agammaglobulinemia, 601495 (3)" "IGHM, MU" 147020 14q32.33 Hematological 63 "Agammaglobulinemia, autosomal recessive (3)" "IGLL1, IGO, IGL5, VPREB2" 146770 22q11.21 Hematological 63 "Agammaglobulinemia, non-Bruton type, 601495 (3)" "LRRC8, KIAA1437" 608360 9q34.13 Hematological 63 "Agammaglobulinemia, type 1, X-linked (3)" "BTK, AGMX1, IMD1, XLA, AT" 300300 Xq21.3-q22 Hematological 64 AGAT deficiency (3) "GATM, AGAT" 602360 15q15.3 Metabolic 65 "Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)" "SLC12A6, KCC3A, KCC3B, KCC3, ACCPN" 604878 15q13-q14 Neurological 69 "AICA-ribosiduria due to ATIC deficiency, 608688 (3)" "ATIC, PURH, AICAR" 601731 2q35 Metabolic 70 "AIDS, delayed/rapid progression to (3)" "KIR3DL1, NKAT3, NKB1, AMB11, KIR3DS1" 604946 19q13.4 Immunological 70 "AIDS, rapid progression to, 609423 (3)" IFNG 147570 12q14 Immunological 70 "AIDS, resistance to (3)" "CXCL12, SDF1" 600835 10q11.1 Immunological 71 "Alagille syndrome, 118450 (3)" "JAG1, AGS, AHD" 601920 20p12 multiple 72 "Albinism, brown oculocutaneous, (3)" "OCA2, P, PED, D15S12, BOCA" 203200 15q11.2-q12 Dermatological 72 "Albinism, ocular, autosomal recessive (3)" "OCA2, P, PED, D15S12, BOCA" 203200 15q11.2-q12 Dermatological 72 "Albinism, oculocutaneous, type IA, 203100 (3)" TYR 606933 11q14-q21 Dermatological 72 "Albinism, oculocutaneous, type IB, 606952 (3)" TYR 606933 11q14-q21 Dermatological 72 "Albinism, oculocutaneous, type II (3)" "OCA2, P, PED, D15S12, BOCA" 203200 15q11.2-q12 Dermatological 72 "Albinism, rufous, 278400 (3)" "TYRP1, CAS2, GP75" 115501 9p23 Dermatological 74 "Alcohol dependence, susceptibility to, 103780 (3)" HTR2A 182135 13q14-q21 Unclassified 2074 "Alcohol intolerance, acute (3)" ALDH2 100650 12q24.2 Metabolic 75 "Alcoholism, susceptibility to, 103780 (3)" GABRA2 137140 4p13-p12 Unclassified 76 Aldolase A deficiency (3) ALDOA 103850 16q22-q24 Metabolic 77 Aldosterone to renin ratio raised (3) CYP11B2 124080 8q21 Endocrine 78 "Aldosteronism, glucocorticoid-remediable, 103900 (3)" "CYP11B1, P450C11, FHI" 202010 8q21 Endocrine 79 "Alexander disease, 203450 (3)" GFAP 137780 17q21 multiple 79 "Alexander disease, 203450 (3)" "NDUFV1, UQOR1" 161015 11q13 multiple 80 "Alkaptonuria, 203500 (3)" "HGD, AKU" 607474 3q21-q23 Metabolic 82 "Allan-Herndon-Dudley syndrome, 300523 (3)" "SLC16A2, DXS128, XPCT" 300095 Xq13.2 Neurological 83 "Allergic rhinitis, susceptibility to, 607154 (3)" "IL13, ALRH" 147683 5q31 Immunological 85 "Alopecia universalis, 203655 (3)" "HR, AU" 602302 8p21.2 Dermatological 86 "Alpers syndrome, 203700 (3)" "POLG, POLG1, POLGA, PEO" 174763 15q25 Neurological 87 Alpha-1-antichymotrypsin deficiency (3) "SERPINA3, AACT, ACT" 107280 14q32.1 Respiratory 88 Alpha-actinin-3 deficiency (3) ACTN3 102574 11q13-q14 Muscular 90 "Alpha-methylacetoacetic aciduria, 203750 (3)" ACAT1 607809 11q22.3-q23.1 Metabolic 91 Alpha-methylacyl-CoA racemase deficiency (3) AMACR 604489 5p13.2-q11.1 Metabolic 92 "Alpha-thalassemia/mental retardation syndrome, 301040 (3)" "ATRX, XH2, XNP, MRXS3, SHS" 300032 Xq13 Hematological 92 "Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3)" "ATRX, XH2, XNP, MRXS3, SHS" 300032 Xq13 Hematological 94 "Alport syndrome, 301050 (3)" "COL4A5, ATS, ASLN" 303630 Xq22.3 Renal 94 "Alport syndrome, autosomal recessive, 203780 (3)" COL4A3 120070 2q36-q37 Renal 94 "Alport syndrome, autosomal recessive, 203780 (3)" COL4A4 120131 2q36-q37 Renal 95 "Alstrom syndrome, 203800 (3)" "ALMS1, ALSS, KIAA0328" 606844 2p13 Neurological 96 "Alternating hemiplegia of childhood, 104290 (3)" "ATP1A2, FHM2, MHP2" 182340 1q21-q23 Neurological 97 "Alveolar soft-part sarcoma, 606243 (3)" "ASPCR1, RCC17, ASPL, ASPS" 606236 17q25 Cancer 98 "Alzheimer disease-1, APP-related (3)" "APP, AAA, CVAP, AD1" 104760 21q21 Neurological 98 "Alzheimer disease-2, 104310 (3)" "APOE, AD2" 107741 19q13.2 Neurological 98 "Alzheimer disease-4, 606889 (3)" "PSEN2, AD4, STM2" 600759 1q31-q42 Neurological 98 "Alzheimer disease, late-onset, 104300 (3)" "APBB2, FE65L1" 602710 4p14 Neurological 98 "Alzheimer disease, late-onset, susceptibility to, 104300 (3)" NOS3 163729 7q36 Neurological 98 "Alzheimer disease, late-onset, susceptibility to, 104300 (3)" "PLAU, URK" 191840 10q24 Neurological 98 "Alzheimer disease, susceptibility to, 104300 (3)" "ACE, DCP1, ACE1" 106180 17q23 Neurological 98 "Alzheimer disease, susceptibility to, 104300 (3)" MPO 606989 17q23.1 Neurological 98 "Alzheimer disease, susceptibility to, 104300 (3)" "PACIP1, PAXIP1L, PTIP" 608254 7q36 Neurological 98 "Alzheimer disease, susceptibility to (3)" A2M 103950 12p13.3-p12.3 Neurological 98 "Alzheimer disease, susceptibility to (3)" "BLMH, BMH" 602403 17q11.2 Neurological 98 "Alzheimer disease, type 3, 607822 (3)" "PSEN1, AD3" 104311 14q24.3 Neurological 98 "Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3)" "PSEN1, AD3" 104311 14q24.3 Neurological 98 "Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3)" "PSEN1, AD3" 104311 14q24.3 Neurological 99 "Amelogenesis imperfecta 2, hypoplastic local, 104500 (3)" ENAM 606585 4q21 Bone 99 "Amelogenesis imperfecta, 301200 (3)" "AMELX, AMG, AIH1, AMGX" 300391 Xp22.3-p22.1 Bone 99 "Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism, 104510 (3)" "DLX3, TDO" 600525 17q21.3-q22 Bone 99 "Amelogenesis imperfecta, hypoplastic, and openbite malocclusion, 608563 (3)" ENAM 606585 4q21 Bone 99 "Amelogenesis imperfecta, pigmented hypomaturation type, 204700 (3)" "KLK4, EMSP1, PRSS17" 603767 19q13.3-q13.4 Bone 100 "Amish infantile epilepsy syndrome, 609056 (3)" "SIAT9, ST3GALV" 604402 2p11.2 Neurological 101 "AMP deaminase deficiency, erythrocytic (3)" AMPD3 102772 11pter-p13 Hematological 102 "Amyloid neuropathy, familial, several allelic types (3)" "TTR, PALB" 176300 18q11.2-q12.1 Neurological 103 "Amyloidosis, 3 or more types (3)" APOA1 107680 11q23 Neurological 103 "Amyloidosis, cerebroarterial, Dutch type (3)" "APP, AAA, CVAP, AD1" 104760 21q21 Neurological 103 "Amyloidosis, Finnish type, 105120 (3)" GSN 137350 9q34 Neurological 103 "Amyloidosis, hereditary renal, 105200 (3)" FGA 134820 4q28 Neurological 103 "Amyloidosis, renal, 105200 (3)" LYZ 153450 Chr.12 Neurological 103 "Amyloidosis, senile systemic (3)" "TTR, PALB" 176300 18q11.2-q12.1 Neurological 104 "Amyotrophic lateral sclerosis 8, 608627 (3)" "VAPB, VAPC, ALS8" 605704 20q13.3 Neurological 104 "Amyotrophic lateral sclerosis, due to SOD1 deficiency, 105400 (3)" "SOD1, ALS1" 147450 21q22.1 Neurological 104 "Amyotrophic lateral sclerosis, juvenile, 205100 (3)" "ALS2, ALSJ, PLSJ, IAHSP" 606352 2q33 Neurological 104 "Amyotrophic lateral sclerosis, susceptibility to, 105400 (3)" DCTN1 601143 2p13 Neurological 104 "Amyotrophic lateral sclerosis, susceptibility to, 105400 (3)" NEFH 162230 22q12.2 Neurological 104 "Amyotrophic lateral sclerosis, susceptibility to, 105400 (3)" PRPH 170710 12q12-q13 Neurological 105 Analbuminemia (3) ALB 103600 4q11-q13 Hematological 107 "Analgesia from kappa-opioid receptor agonist, female-specific (3)" MC1R 155555 16q24.3 Unclassified 108 "Anderson disease, 607689 (3)" "SARA2, SAR1B, CMRD" 607690 5q31.1 Gastrointestinal 109 "Androgen insensitivity, 300068 (3)" "AR, DHTR, TFM, SBMA, KD, SMAX1" 313700 Xq11-q12 Endocrine 110 "Anemia, congenital dyserythropoietic, type I, 224120 (3)" "CDAN1, CDA1" 607465 15q15 Hematological 110 "Anemia, Diamond-Blackfan, 105650 (3)" "RPS19, DBA" 603474 19q13.2 Hematological 110 "Anemia, hemolytic, due to PK deficiency (3)" "PKLR, PK1" 266200 1q21 Hematological 110 "Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)" "NT5C3, UMPH1, PSN1" 606224 7p15-p14 Hematological 110 "Anemia, hemolytic, Rh-null, regulator type, 268150 (3)" "RHAG, RH50A" 180297 6p21.1-p11 Hematological 110 "Anemia, hypochromic microcytic, 206100 (3)" NRAMP2 600523 12q13 Hematological 110 "Anemia, neonatal hemolytic, fatal and near-fatal (3)" SPTB 182870 14q22-q23.2 Hematological 110 "Anemia, sideroblastic/hypochromic (3)" "ALAS2, ANH1, ASB" 301300 Xp11.21 Hematological 110 "Anemia, sideroblastic, with ataxia, 301310 (3)" "ABCB7, ABC7, ASAT" 300135 Xq13.1-q13.3 Hematological 2112 "Aneurysm, familial arterial (3)" COL3A1 120180 2q31 Unclassified 113 "Angelman syndrome, 105830 (3)" "MECP2, RTT, PPMX, MRX16, MRX79" 300005 Xq28 Developmental 113 "Angelman syndrome, 105830 (3)" "UBE3A, ANCR" 601623 15q11-q13 Developmental 114 "Angioedema, hereditary, 106100 (3)" "C1NH, HAE1, HAE2, SERPING1" 606860 11q11-q13.1 Immunological 114 "Angioedema induced by ACE inhibitors, susceptibility to (3)" XPNPEP2 300145 Xq25 Immunological 115 "Angiofibroma, sporadic (3)" MEN1 131100 11q13 Endocrine 117 "Angiotensin I-converting enzyme, benign serum increase (3)" "ACE, DCP1, ACE1" 106180 17q23 Endocrine 118 Anhaptoglobinemia (3) HP 140100 16q22.1 Hematological 119 "Aniridia, type II, 106210 (3)" "PAX6, AN2, MGDA" 607108 11p13 Ophthamological 121 "Ankylosing spoldylitis, susceptibility to, 106300 (3)" HLA-B 142830 6p21.3 Connective tissue disorder 122 "Anophthalmia 3, 206900 (3)" "SOX2, ANOP3" 184429 3q26.3-q27 Ophthamological 124 "Anorexia nervosa, susceptibility to, 606788 (3)" HTR2A 182135 13q14-q21 Nutritional 126 Anterior segment anomalies and cataract (3) "EYA1, BOR" 601653 8q13.3 Ophthamological 126 "Anterior segment mesenchymal dysgenesis, 107250 (3)" "FOXE3, FKHL12, ASMD" 601094 1p32 Ophthamological 126 Anterior segment mesenchymal dysgenesis (3) "FOXC1, FKHL7, FREAC3" 601090 6p25 Ophthamological 126 "Anterior segment mesenchymal dysgenesis and cataract, 107250 (3)" PITX3 602669 10q25 Ophthamological 127 Antithrombin III deficiency (3) AT3 107300 1q23-q25 Hematological 128 "Antley-Bixler syndrome, 207410 (3)" POR 124015 7q11.2 Unclassified 129 Anxiety-related personality traits (3) "SLC6A4, HTT, OCD1" 182138 17q11.1-q12 Psychiatric 130 "Aortic aneurysm, ascending, and dissection (3)" "FBN1, MFS1, WMS" 134797 15q21.1 Cardiovascular 131 "Apert syndrome, 101200 (3)" "FGFR2, BEK, CFD1, JWS" 176943 10q26 Connective tissue disorder 132 "Aplasia of lacrimal and salivary glands, 180920 (3)" FGF10 602115 5p13-p12 Gastrointestinal 133 "Aplastic anemia, 609135 (3)" IFNG 147570 12q14 Hematological 133 "Aplastic anemia, 609135 (3)" "TERC, TRC3, TR" 602322 3q21-q28 Hematological 133 "Aplastic anemia, susceptibility to, 609135 (3)" "TERT, TCS1, EST2" 187270 5p15.33 Hematological 134 "Apnea, postanesthetic (3)" "BCHE, CHE1" 177400 3q26.1-q26.2 Unclassified 136 "ApoA-I and apoC-III deficiency, combined (3)" APOA1 107680 11q23 Metabolic 136 Apolipoprotein A-II deficiency (3) APOA2 107670 1q21-q23 Metabolic 136 Apolipoprotein C3 deficiency (3) APOC3 107720 11q23 Metabolic 136 Apolipoprotein H deficiency (3) APOH 138700 17q23-qter Metabolic 137 "Apparent mineralocorticoid excess, hypertension due to (3)" "HSD11B2, HSD11K" 218030 16q22 Bone 138 Aquaporin-1 deficiency (3) "AQP1, CHIP28, CO" 107776 7p14 Unclassified 139 "ARC syndrome, 208085 (3)" VPS33B 608552 15q26.1 Gastrointestinal 140 "Argininemia, 207800 (3)" ARG1 608313 6q23 Metabolic 140 "Argininosuccinic aciduria, 207900 (3)" ASL 608310 7cen-q11.2 Metabolic 142 Aromatase deficiency (3) "CYP19A1, CYP19, ARO" 107910 15q21.1 Metabolic 143 "Aromatic L-amino acid decarboxylase deficiency, 608643 (3)" DDC 107930 7p11 Metabolic 144 "Arrhythmogenic right ventricular dysplasia 2, 600996 (3)" "RYR2, VTSIP" 180902 1q42.1-q43 Cardiovascular 144 "Arrhythmogenic right ventricular dysplasia 8, 607450 (3)" "DSP, KPPS2, PPKS2" 125647 6p24 Cardiovascular 144 "Arrhythmogenic right ventricular dysplasia, familial, 9, 609040 (3)" "PKP2, ARVD9" 602861 12p11 Cardiovascular 146 "Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)" "TPM2, TMSB, AMCD1, DA1" 190990 9p13.2-p13.1 Developmental 146 "Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)" "TNNI2, AMCD2B, DA2B, FSSV" 191043 11p15.5 Developmental 147 "Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)" "WISP3, PPAC, PPD" 603400 6q22-q23 Bone 146 "Arthyrgryposis multiplex congenita, distal, type 2B, 601680 (3)" "TNNT3, AMCD2B, DA2B, FSSV" 600692 11p15.5 Developmental 150 Aspartylglucosaminuria (3) AGA 208400 4q32-q33 Metabolic 151 "Asperger syndrome, 300494 (3)" NLGN3 300336 Xq13 Psychiatric 151 "Asperger syndrome, 300497 (3)" "NLGN4, KIAA1260, AUTSX2" 300427 Xp22.33 Psychiatric 153 "Asthma, 600807 (3)" "PHF11, NYREN34" 607796 13q14.1 Respiratory 153 "Asthma, atopic, susceptibility to (3)" "MS4A2, FCER1B" 147138 11q13 Respiratory 153 "Asthma, dimished response to antileukotriene treatment in, 600807 (3)" ALOX5 152390 10q11.2 Respiratory 153 "Asthma, nocturnal, susceptibility to (3)" ADRB2 109690 5q32-q34 Respiratory 153 "Asthma, susceptibility to, 1, 607277 (3)" "PTGDR, AS1" 604687 14q22.1 Respiratory 153 "Asthma, susceptibility to, 2, 608584 (3)" "GPR154, GPRA, VRR1, PGR14" 608595 7p15-p14 Respiratory 153 "Asthma, susceptibility to (3)" HNMT 605238 1p32 Respiratory 153 "Asthma, susceptibility to, 600807 (3)" "IL12B, NKSF2" 161561 5q31.1-q33.1 Respiratory 153 "Asthma, susceptibility to, 600807 (3)" "IL13, ALRH" 147683 5q31 Respiratory 153 "Asthma, susceptibility to, 600807 (3)" "PLA2G7, PAFAH" 601690 6p21.2-p12 Respiratory 153 "Asthma, susceptibility to, 600807 (3)" "SCGB3A2, UGRP1" 606531 5q31-q34 Respiratory 153 "Asthma, susceptibility to, 600807 (3)" "TNF, TNFA" 191160 6p21.3 Respiratory 153 "Asthma, susceptibility to, 600807 (3)" "UGB, CC10, CCSP, SCGB1A1" 192020 11q12.3-q13.1 Respiratory 154 "Ataxia, cerebellar, Cayman type, 601238 (3)" "ATCAY, CLAC, KIAA1872" 608179 19p13.3 Neurological 154 "Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)" "APTX, AOA, AOA1" 606350 9p13.3 Neurological 154 "Ataxia, episodic (3)" "CACNB4, EJM" 601949 2q22-q23 Neurological 154 "Ataxia-ocular apraxia-2, 606002 (3)" "SETX, SCAR1, AOA2" 608465 9q34 Neurological 157 "Ataxia-telangiectasia, 208900 (3)" "ATM, ATA, AT1" 607585 11q22.3 Immunological 157 "Ataxia-telangiectasia-like disorder, 604391 (3)" "MRE11A, MRE11, ATLD" 600814 11q21 Immunological 154 "Ataxia with isolated vitamin E deficiency, 277460 (3)" "TTPA, TTP1, AVED" 600415 8q13.1-q13.3 Neurological 160 "Atelosteogenesis II, 256050 (3)" "SLC26A2, DTD, DTDST, D5S1708, EDM4" 606718 5q32-q33.1 Connective tissue 160 "Atelostogenesis, type I, 108720 (3)" "FLNB, SCT, AOI" 603381 3p14.3 Connective tissue disorder 162 "Athabaskan brainstem dysgenesis syndrome, 601536 (3)" "HOXA1, HOX1F, BSAS" 142955 7p15.3 Neurological 163 "Atherosclerosis, susceptibility to (3)" ALOX5 152390 10q11.2 Cardiovascular 164 "Atopy, 147050 (3)" "SPINK5, LEKTI" 605010 5q32 Immunological 164 "Atopy, resistance to, 147050 (3)" "HAVCR1, HAVCR" 606518 5q33.2 Immunological 164 "Atopy, susceptibility to, 147050 (3)" "PLA2G7, PAFAH" 601690 6p21.2-p12 Immunological 164 "Atopy, susceptibility to, 147050 (3)" "SELP, GRMP" 173610 1q23-q25 Immunological 164 "Atopy, susceptibility to (3)" "IL4R, IL4RA" 147781 16p12.1-p11.2 Immunological 165 "Atransferrinemia, 209300 (3)" TF 190000 3q21 Hematological 166 "Atrial fibrillation, familial, 607554 (3)" "KCNE2, MIRP1, LQT6" 603796 21q22.1 Cardiovascular 166 "Atrial fibrillation, familial, 607554 (3)" "KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1" 607542 11p15.5 Cardiovascular 166 "Atrial septal defect-2, 607941 (3)" GATA4 600576 8p23.1-p22 Cardiovascular 166 Atrial septal defect 3 (3) "MYH6, ASD3, MYHCA" 160710 14q12 Cardiovascular 166 "Atrial septal defect with atrioventricular conduction defects, 108900 (3)" "NKX2E, CSX" 600584 5q34 Cardiovascular 167 "Atrichia with papular lesions, 209500 (3)" "HR, AU" 602302 8p21.2 Dermatological 168 "Atrioventricular block, idiopathic second-degree (3)" "NKX2E, CSX" 600584 5q34 Cardiovascular 168 "Atrioventricular septal defect, 600309 (3)" "GJA1, CX43, ODDD, SDTY3, ODOD" 121014 6q21-q23.2 Cardiovascular 168 "Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)" "CRELD1, AVSD2" 607170 3p25.3 Cardiovascular 168 "Atrioventricular septal defect, susceptibility to, 2, 606217 (3)" "CRELD1, AVSD2" 607170 3p25.3 Cardiovascular 171 "Attention deficit-hyperactivity disorder, susceptibility to, 143465 (3)" "DRD5, DRD1B, DRD1L2" 126453 4p16.1-p15.3 Psychiatric 173 "Autism, susceptibility to, 209850 (3)" GLO1 138750 6p21.3-p21.2 Psychiatric 173 "Autism, X-linked, 300425 (3)" "MECP2, RTT, PPMX, MRX16, MRX79" 300005 Xq28 Psychiatric 173 "Autism, X-linked, 300425 (3)" NLGN3 300336 Xq13 Psychiatric 173 "Autism, X-linked, 300495 (3)" "NLGN4, KIAA1260, AUTSX2" 300427 Xp22.33 Psychiatric 174 "Autoimmune lymphoproliferative syndrome, 601859 (3)" "TNFRSF6, APT1, FAS, CD95, ALPS1A" 134637 10q24.1 Immunological 174 "Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)" "TNFRSF6, APT1, FAS, CD95, ALPS1A" 134637 10q24.1 Immunological 174 "Autoimmune lymphoproliferative syndrome, type II, 603909 (3)" "CASP10, MCH4, ALPS2" 601762 2q33-q34 Immunological 174 "Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3)" "CASP8, MCH5" 601763 2q33-q34 Immunological 174 "Autoimmune polyglandular disease, type I, 240300 (3)" "AIRE, APECED" 607358 21q22.3 Immunological 2174 "Autoimmune thyroid disease, susceptibility to 3, 608175 (3)" "TG, AITD3" 188450 8q24.2-q24.3 Endocrine 175 Autonomic nervous system dysfunction (3) DRD4 126452 11p15.5 Psychiatric 177 Axenfeld anomaly (3) "FOXC1, FKHL7, FREAC3" 601090 6p25 Ophthamological 178 Azoospermia (3) "USP9Y, DFFRY" 400005 Yq11.2 Endocrine 178 "Azoospermia due to perturbations of meiosis, 270960 (3)" "SYCP3, SCP3, COR1" 604759 12q23 Endocrine 180 "Bamforth-Lazarus syndrome, 241850 (3)" "FOXE1, FKHL15, TITF2, TTF2" 602617 9q22 Endocrine 182 "Bannayan-Riley-Ruvalcaba syndrome, 153480 (3)" "PTEN, MMAC1" 601728 10q23.31 Unclassified 182 "Bannayan-Zonana syndrome, 153480 (3)" "PTEN, MMAC1" 601728 10q23.31 Unclassified 183 "Bardet-Biedl syndrome 1, 209900 (3)" BBS1 209901 11q13 multiple 183 "Bardet-Biedl syndrome 1, modifier of, 209900 (3)" "ARL6, BBS3" 608845 3p12-q13 multiple 183 "Bardet-Biedl syndrome, 209900 (3)" BBS7 607590 4q27 multiple 183 "Bardet-Biedl syndrome 2, 209900 (3)" BBS2 606151 16q21 multiple 183 "Bardet-Biedl syndrome 3, 600151 (3)" "ARL6, BBS3" 608845 3p12-q13 multiple 183 "Bardet-Biedl syndrome 4, 209900 (3)" BBS4 600374 15q22.3-q23 multiple 183 "Bardet-Biedl syndrome 5, 209900 (3)" BBS5 603650 2q31 multiple 183 "Bardet-Biedl syndrome 6, 209900 (3)" "MKKS, HMCS, KMS, MKS, BBS6" 604896 20p12 multiple 183 "Bardet-Biedl syndrome 8, 209900 (3)" "TTC8, BBS8" 608132 14q32.1 multiple 184 "Bare lymphocyte syndrome, type I, 604571 (3)" "TAPBP, TPSN" 601962 6p21.3 Immunological 184 "Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)" "TAP2, ABCB3, PSF2, RING11" 170261 6p21.3 Immunological 184 "Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)" "MHC2TA, C2TA" 600005 16p13 Immunological 184 "Bare lymphocyte syndrome, type II, complementation group C, 209920 (3)" RFX5 601863 1q21.1-q21.3 Immunological 184 "Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)" RFXAP 601861 13q14 Immunological 184 "Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)" RFX5 601863 1q21.1-q21.3 Immunological 185 "Barth syndrome, 302060 (3)" "TAZ, EFE2, BTHS, CMD3A, LVNCX" 300394 Xq28 multiple 186 "Bart-Pumphrey syndrome, 149200 (3)" "GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID" 121011 13q11-q12 multiple 187 "Bartter syndrome, type 1, 601678 (3)" "SLC12A1, NKCC2" 600839 15q15-q21.1 multiple 187 "Bartter syndrome, type 2, 241200 (3)" "KCNJ1, ROMK1" 600359 11q24 multiple 187 "Bartter syndrome, type 3, 607364 (3)" CLCNKB 602023 1p36 multiple 187 "Bartter syndrome, type 4, 602522 (3)" BSND 606412 1p31 multiple 187 "Bartter syndrome, type 4, digenic, 602522 (3)" CLCNKA 602024 1p36 multiple 187 "Bartter syndrome, type 4, digenic, 602522 (3)" CLCNKB 602023 1p36 multiple 188 Basal cell carcinoma (3) "RASA1, GAP, CMAVM, PKWS" 139150 5q13.3 Cancer 188 "Basal cell carcinoma, somatic, 605462 (3)" PTCH2 603673 1p32 Cancer 188 "Basal cell carcinoma, somatic, 605462 (3)" "PTCH, NBCCS, BCNS, HPE7" 601309 9q22.3 Cancer 188 "Basal cell carcinoma, sporadic (3)" "SMOH, SMO" 601500 7q31-q32 Cancer 2188 "Basal cell nevus syndrome, 109400 (3)" "PTCH, NBCCS, BCNS, HPE7" 601309 9q22.3 multiple 4188 "Basal ganglia disease, adult-onset, 606159 (3)" FTL 134790 19q13.3-q13.4 Neurological 4188 "Basal ganglia disease, biotin-responsive, 607483 (3)" SLC19A3 606152 2q36.3 Neurological 190 "B-cell non-Hodgkin lymphoma, high-grade (3)" "BCL7A, BCL7" 601406 12q24.1 Cancer 191 "BCG infection, generalized familial (3)" IFNGR1 107470 6q23-q24 Immunological 192 "Beare-Stevenson cutis gyrata syndrome, 123790 (3)" "FGFR2, BEK, CFD1, JWS" 176943 10q26 multiple 193 "Becker muscular dystrophy, 300376 (3)" "DMD, BMD" 300377 Xp21.2 Muscular 193 "Becker muscular dystrophy modifier, 310200 (3)" MYF6 159991 12q21 Muscular 194 "Beckwith-Wiedemann syndrome, 130650 (3)" "CDKN1C, KIP2, BWS" 600856 11p15.5 multiple 194 "Beckwith-Wiedemann syndrome, 130650 (3)" "H19, D11S813E, ASM1, BWS" 103280 11p15.5 multiple 194 "Beckwith-Wiedemann syndrome, 130650 (3)" "KCNQ10T1, LIT1" 604115 11p15.5 multiple 194 "Beckwith-Wiedemann syndrome, 130650 (3)" "NSD1, ARA267, STO" 606681 5q35 multiple 195 "Benzene toxicity, susceptibility to (3)" "NQO1, DIA4, NMOR1" 125860 16q22.1 Unclassified 196 "Bernard-Soulier syndrome, 231200 (3)" GP1BA 606672 17pter-p12 Hematological 196 "Bernard-Soulier syndrome, type B, 231200 (3)" GP1BB 138720 22q11.2 Hematological 196 "Bernard-Soulier syndrome, type C (3)" GP9 173515 Chr.3 Hematological 197 "Beryllium disease, chronic, susceptibility to (3)" HLA-DPB1 142858 6p21.3 Unclassified 198 "Beta-2-adrenoreceptor agonist, reduced response to (3)" ADRB2 109690 5q32-q34 Unclassified 199 Beta-ureidopropionase deficiency (3) "UPB1, BUP1" 606673 22q11.2 Metabolic 200 "Bethlem myopathy, 158810 (3)" "COL6A1, OPLL" 120220 21q22.3 Muscular 200 "Bethlem myopathy, 158810 (3)" COL6A2 120240 21q22.3 Muscular 200 "Bethlem myopathy, 158810 (3)" COL6A3 120250 2q37 Muscular 201 "Bietti crystalline corneoretinal dystrophy, 210370 (3)" "CYP4V2, BCD" 608614 4q35.1 Ophthamological 202 "Bile acid malabsorption, primary (3)" "SLC10A2, NTCP2" 601295 13q33 Gastrointestinal 203 "Biotinidase deficiency, 253260 (3)" BTD 609019 3p25 Metabolic 204 "Bipolar disorder, susceptibility to, 125480 (3)" "XBP1, XBP2" 194355 22q12 Psychiatric 205 "Birt-Hogg-Dube syndrome, 135150 (3)" "FLCN, BHD" 607273 17p11.2 Dermatological 207 "Bladder cancer, 109800 (3)" "FGFR3, ACH" 134934 4p16.3 Cancer 207 "Bladder cancer, 109800 (3)" "KRAS2, RASK2" 190070 12p12.1 Cancer 207 "Bladder cancer, 109800 (3)" RB1 180200 13q14.1-q14.2 Cancer 207 "Bladder cancer, somatic, 109800 (3)" HRAS 190020 11p15.5 Cancer 208 "Blau syndrome, 186580 (3)" "CARD15, NOD2, IBD1, CD, ACUG, PSORAS1" 605956 16q12 multiple 209 Bleeding disorder due to defective thromboxane A2 receptor (3) TBXA2R 188070 19p13.3 Hematological 209 "Bleeding due to platelet ADP receptor defect, 600515 (3)" "P2RX1, P2X1" 600845 17p13.3 Hematological 210 "Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3)" "FOXL2, BPES, BPES1, PFRK, POF3" 605597 3q23 multiple 210 "Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3)" "FOXL2, BPES, BPES1, PFRK, POF3" 605597 3q23 multiple 211 "Blepharospasm, primary benign, 606798 (3)" "DRD5, DRD1B, DRD1L2" 126453 4p16.1-p15.3 Ophthamological 212 "Blood group, ABO system (3)" ABO 110300 9q34 Hematological 212 "Blood group, Auberger system (3)" "LU, AU, BCAM" 111200 19q13.2 Hematological 212 "Blood group, Colton, 110450 (3)" "AQP1, CHIP28, CO" 107776 7p14 Hematological 212 Blood group Cromer (3) DAF 125240 1q32 Hematological 212 "Blood group, Diego, 110500 (3)" "SLC4A1, AE1, EPB3" 109270 17q21-q22 Hematological 212 "Blood group, Dombrock (3)" "ART4, DO" 110600 12p13-p12 Hematological 212 "Blood group, Gerbich (3)" "GYPC, GE, GPC" 110750 2q14-q21 Hematological 212 "Blood group GIL, 607457 (3)" AQP3 600170 9p13 Hematological 212 "Blood group, Ii, 110800 (3)" GCNT2 600429 6p24-p23 Hematological 212 "Blood group, Indian system (3)" "CD44, MDU2, MDU3, MIC4" 107269 11pter-p13 Hematological 212 "Blood group, Kell (3)" KEL 110900 7q33 Hematological 212 "Blood group, Kidd (3)" "SLC14A1, JK, UTE, UT1" 111000 18q11-q12 Hematological 212 "Blood group, Knops system, 607486 (3)" "CR1, C3BR" 120620 1q32 Hematological 212 "Blood group, Landsteiner-Wiener (3)" LW 111250 19p13.3 Hematological 212 "Blood group, Lewis (3)" "FUT3, LE" 111100 19p13.3 Hematological 212 "Blood group, Lutheran system (3)" "LU, AU, BCAM" 111200 19q13.2 Hematological 212 "Blood group, MN (3)" "GYPA, MN, GPA" 111300 4q28.2-q31.1 Hematological 212 "Blood group, OK, 111380 (3)" BSG 109480 19p13.3 Hematological 212 "Blood group, P system, 111400 (3)" "A4GALT, PK" 607922 22q13.2 Hematological 212 "Blood group, P system, 111400 (3)" "B3GALT3, GLCT3, P" 603094 3q25 Hematological 212 "Blood group, Rhesus (3)" RHCE 111700 1p36.2-p34 Hematological 212 "Blood group, Ss (3)" "GYPB, SS, MNS" 111740 4q28-q31 Hematological 212 "Blood group, Waldner, 112010 (3)" "SLC4A1, AE1, EPB3" 109270 17q21-q22 Hematological 212 "Blood group, Wright, 112050 (3)" "SLC4A1, AE1, EPB3" 109270 17q21-q22 Hematological 212 "Blood group, XG system (3)" XG 314700 Xpter-p22.32 Hematological 212 "Blood group, Yt system, 112100 (3)" "ACHE, YT" 100740 7q22 Hematological 213 "Bloom syndrome, 210900 (3)" "RECQL3, RECQ2, BLM, BS" 604610 15q26.1 Cancer 214 "Blue-cone monochromacy, 303700 (3)" "OPN1LW, RCP, CBP, CBBM" 303900 Xq28 Ophthamological 214 "Blue-cone monochromacy, 303700 (3)" "OPN1MW, GCP, CBD, CBBM" 303800 Xq28 Ophthamological 216 Bombay phenotype (3) "FUT1, H, HH" 211100 19q13.3 Hematological 216 Bombay phenotype (3) "FUT2, SE" 182100 19q13.3 Hematological 217 "Bone mineral density variability 1, 601884 (3)" "LRP5, BMND1, LRP7, LR3, OPPG, VBCH2" 603506 11q13.4 Bone 218 "Borjeson-Forssman-Lehmann syndrome, 301900 (3)" "PHF6, BFLS" 300414 Xq26.3 multiple 220 "Bosley-Salih-Alorainy syndrome, 601536 (3)" "HOXA1, HOX1F, BSAS" 142955 7p15.3 Neurological 221 "Bothnia retinal dystrophy, 607475 (3)" RLBP1 180090 15q26 Ophthamological 224 "Brachydactyly, type A1, 112500 (3)" "IHH, BDA1" 600726 2q33-q35 Skeletal 224 "Brachydactyly, type A2, 112600 (3)" "BMPR1B, ALK6" 603248 4q23-q24 Skeletal 224 "Brachydactyly, type B1, 113000 (3)" "ROR2, BDB1, BDB, NTRKR2" 602337 9q22 Skeletal 224 "Brachydactyly, type C, 113100 (3)" "GDF5, CDMP1" 601146 20q11.2 Skeletal 224 "Brachydactyly, type D, 113200 (3)" "HOXD13, HOX4I, SPD" 142989 2q31-q32 Skeletal 224 "Brachydactyly, type E, 113300 (3)" "HOXD13, HOX4I, SPD" 142989 2q31-q32 Skeletal 225 "Bradyopsia, 608415 (3)" "R9AP, RGS9, PERRS" 607814 19q13.11 Ophthamological 225 "Bradyopsia, 608415 (3)" "RGS9, PERRS" 604067 17q23-q24 Ophthamological 226 Branchiootic syndrome (3) "EYA1, BOR" 601653 8q13.3 Neurological 226 "Branchiootorenal syndrome, 113650 (3)" "EYA1, BOR" 601653 8q13.3 Neurological 226 "Branchiootorenal syndrome with cataract, 113650 (3)" "EYA1, BOR" 601653 8q13.3 Neurological 228 "Breast and colorectal cancer, susceptibility to (3)" "CHEK2, RAD53, CHK2, CDS1, LFS2" 604373 22q12.1 Cancer 228 "Breast cancer, 114480 (3)" PIK3CA 171834 3q26.3 Cancer 228 "Breast cancer, 114480 (3)" "PPM1D, WIP1" 605100 17q22-q23 Cancer 228 "Breast cancer, 114480 (3)" "SLC22A1L, BWSCR1A, IMPT1" 602631 11p15.5 Cancer 228 "Breast cancer, 114480 (3)" "TP53, P53, LFS1" 191170 17p13.1 Cancer 228 Breast cancer-1 (3) "BRCA1, PSCP" 113705 17q21 Cancer 228 "Breast cancer 2, early onset (3)" "BRCA2, FANCD1" 600185 13q12.3 Cancer 228 Breast cancer (3) TSG101 601387 11p15.2-p15.1 Cancer 228 "Breast cancer, early-onset, 114480 (3)" "BRIP1, BACH1, FANCJ" 605882 17q22 Cancer 228 "Breast cancer, invasive intraductal (3)" "RAD54L, HR54, HRAD54" 603615 1p32 Cancer 228 "Breast cancer, lobular (3)" "CDH1, UVO" 192090 16q22.1 Cancer 228 "Breast cancer, male, susceptibility to, 114480 (3)" "BRCA2, FANCD1" 600185 13q12.3 Cancer 228 "Breast cancer, male, with Reifenstein syndrome (3)" "AR, DHTR, TFM, SBMA, KD, SMAX1" 313700 Xq11-q12 Cancer 228 "Breast cancer, somatic, 114480 (3)" "KRAS2, RASK2" 190070 12p12.1 Cancer 228 "Breast cancer, somatic, 114480 (3)" "RB1CC1, CC1, KIAA0203" 606837 8q11 Cancer 228 "Breast cancer, sporadic (3)" PHB 176705 17q21 Cancer 228 "Breast cancer, susceptibility to, 114480 (3)" "ATM, ATA, AT1" 607585 11q22.3 Cancer 228 "Breast cancer, susceptibility to, 114480 (3)" BARD1 601593 2q34-q35 Cancer 228 "Breast cancer, susceptibility to, 114480 (3)" "CHEK2, RAD53, CHK2, CDS1, LFS2" 604373 22q12.1 Cancer 228 "Breast cancer, susceptibility to, 114480 (3)" "RAD51A, RECA" 179617 15q15.1 Cancer 228 "Breast cancer, susceptibility to (3)" XRCC3 600675 14q32.3 Cancer 228 Breast-ovarian cancer (3) "BRCA1, PSCP" 113705 17q21 Cancer 231 "Brody myopathy, 601003 (3)" "ATP2A1, SERCA1" 108730 16p12 Muscular 233 "Bruck syndrome 2, 609220 (3)" PLOD2 601865 3q23-q24 Unclassified 234 "Brugada syndrome, 601144 (3)" "SCN5A, LQT3, IVF, HB1, SSS1" 600163 3p21 Cardiovascular 235 Brunner syndrome (3) MAOA 309850 Xp11.23 Unclassified 237 "Burkitt lymphoma, 113970 (3)" MYC 190080 8q24.12-q24.13 Cancer 238 "Buschke-Ollendorff syndrome, 166700 (3)" "LEMD3, MAN1" 607844 12q14 multiple 239 "Butterfly dystrophy, retinal, 169150 (3)" "RDS, RP7, PRPH2, PRPH, AVMD, AOFMD" 179605 6p21.1-cen Ophthamological 240 "C1q deficiency, type A (3)" C1QA 120550 1p36.3-p34.1 Immunological 240 "C1q deficiency, type B (3)" C1QB 120570 1p36.3-p34.1 Immunological 240 "C1q deficiency, type C (3)" C1QG 120575 1p36.3-p34.1 Immunological 240 "C1s deficiency, isolated (3)" C1S 120580 12p13 Immunological 240 C2 deficiency (3) C2 217000 6p21.3 Immunological 240 C3b inactivator deficiency (3) IF 217030 4q25 Immunological 240 C3 deficiency (3) C3 120700 19p13.3-p13.2 Immunological 240 C4 deficiency (3) "C4A, C4S" 120810 6p21.3 Immunological 240 C4 deficiency (3) "C4B, C4F" 120820 6p21.3 Immunological 240 C6 deficiency (3) C6 217050 5p13 Immunological 240 C7 deficiency (3) C7 217070 5p13 Immunological 240 "C8 deficiency, type II (3)" C8B 120960 1p32 Immunological 240 C9 deficiency (3) C9 120940 5p13 Immunological 240 C9 deficiency with dermatomyositis (3) C9 120940 5p13 Immunological 252 "Cafe-au-lait spots, multiple, with leukemia, 114030 (3)" "MSH2, COCA1, FCC1, HNPCC1" 609309 2p22-p21 Cancer 252 "Cafe-au-lait spots with glioma or leukemia, 114030 (3)" "MLH1, COCA2, HNPCC2" 120436 3p21.3 Cancer 253 "Caffey disease, 114000 (3)" COL1A1 120150 17q21.31-q22 Connective tissue disorder 254 "Calcinosis, tumoral, 211900 (3)" "FGF23, ADHR, HPDR2, PHPTC" 605380 12p13.3 Bone 254 "Calcinosis, tumoral, 211900 (3)" GALNT3 601756 2q24-q31 Bone 255 "Campomelic dysplasia, 114290 (3)" "SOX9, CMD1, SRA1" 608160 17q24.3-q25.1 Skeletal 255 "Campomelic dysplasia with autosomal sex reversal, 114290 (3)" "SOX9, CMD1, SRA1" 608160 17q24.3-q25.1 Skeletal 256 "Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)" "PRG4, CACP, MSF, SZP, HAPO" 604283 1q24-q25 Skeletal 257 "Camurati-Engelmann disease, 131300 (3)" "TGFB1, DPD1, CED" 190180 19q13.1 Skeletal 258 "Canavan disease, 271900 (3)" ASPA 608034 17pter-p13 Metabolic 259 Cancer progression/metastasis (3) FGFR4 134935 5q35.1-qter Cancer 259 Cancer susceptibility (3) "MSH6, GTBP, HNPCC5" 600678 2p16 Cancer 261 "Capillary malformation-arteriovenous malformation, 608354 (3)" "RASA1, GAP, CMAVM, PKWS" 139150 5q13.3 Cardiovascular 262 "Carbamoylphosphate synthetase I deficiency, 237300 (3)" CPS1 608307 2q35 Metabolic 263 "Carbohydrate-deficient glycoprotein syndrome, type I, 212065 (3)" "PMM2, CDG1" 601785 16p13.3-p13.2 Metabolic 263 "Carbohydrate-deficient glycoprotein syndrome, type Ib, 602579 (3)" "MPI, PMI1" 154550 15q22-qter Metabolic 263 "Carbohydrate-deficient glycoprotein syndrome, type II, 212066 (3)" "MGAT2, CDGS2" 602616 14q21 Metabolic 264 "Carboxypeptidase N deficiency, 212070 (3)" "CPN1, SCPN, CPN" 603103 10q24.2 Hematological 2265 Carcinoid tumor of lung (3) MEN1 131100 11q13 Cancer 265 "Carcinoid tumors, intestinal, 114900 (3)" "SDHD, PGL1" 602690 11q23 Cancer 267 "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, 604377 (3)" SCO2 604272 22q13 Cardiovascular 268 "Cardiomyopathy, Familial hypertrophic, 8, 608751 (3)" "MYL3, CMH8" 160790 3p Cardiovascular 268 "Cardiomyopathy, dilated, 115200 (3)" ACTC 102540 15q14 Cardiovascular 268 "Cardiomyopathy, dilated, 115200 (3)" "MYH7, CMH1, MPD1" 160760 14q12 Cardiovascular 268 "Cardiomyopathy, dilated, 1A, 115200 (3)" "LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B" 150330 1q21.2 Cardiovascular 268 "Cardiomyopathy, dilated, 1D, 601494 (3)" "TNNT2, CMH2, CMD1D" 191045 1q32 Cardiovascular 268 "Cardiomyopathy, dilated, 1G, 604145 (3), Tibial muscular dystrophy, tardive, 600334 (3)" "TTN, CMD1G, TMD, LGMD2J" 188840 2q24.3 Cardiovascular 268 "Cardiomyopathy, dilated, 1I, 604765 (3)" "DES, CMD1I" 125660 2q35 Cardiovascular 268 "Cardiomyopathy, dilated, 1J, 605362 (3)" "EYA4, DFNA10, CMD1J" 603550 6q23 Cardiovascular 268 "Cardiomyopathy, dilated, 1L, 606685 (3)" "SGCD, SGD, LGMD2F, CMD1L" 601411 5q33 Cardiovascular 268 "Cardiomyopathy, dilated, 1M, 607482 (3)" "CSRP3, CRP3, CLP, CMD1M" 600824 11p15.1 Cardiovascular 268 "Cardiomyopathy, dilated, 1N, 607487 (3)" "TCAP, LGMD2G, CMD1N" 604488 17q12 Cardiovascular 268 "Cardiomyopathy, dilated, with ventricular tachycardia, 608569 (3)" "ABCC9, SUR2" 601439 12p12.1 Cardiovascular 268 "Cardiomyopathy, dilated, X-linked, 302045 (3)" "DMD, BMD" 300377 Xp21.2 Cardiovascular 268 "Cardiomyopathy, familial hypertrophic, 10, 608758 (3)" "MYL2, CMH10" 160781 12q23-q24.3 Cardiovascular 268 "Cardiomyopathy, familial hypertrophic, 1, 192600 (3)" "MYH7, CMH1, MPD1" 160760 14q12 Cardiovascular 268 "Cardiomyopathy, familial hypertrophic, 192600 (3)" ACTC 102540 15q14 Cardiovascular 268 "Cardiomyopathy, familial hypertrophic, 192600 (3)" "CAV3, LGMD1C" 601253 3p25 Cardiovascular 268 "Cardiomyopathy, familial hypertrophic, 192600 (3)" "MYH6, ASD3, MYHCA" 160710 14q12 Cardiovascular 268 "Cardiomyopathy, familial hypertrophic, 192600 (3) ()" TNNC1 191040 3p21.3-p14.3 Cardiovascular 268 "Cardiomyopathy, familial hypertrophic, 2, 115195 (3)" "TNNT2, CMH2, CMD1D" 191045 1q32 Cardiovascular 268 "Cardiomyopathy, familial hypertrophic, 3, 115196 (3)" "TPM1, CMH3" 191010 15q22.1 Cardiovascular 268 "Cardiomyopathy, familial hypertrophic (3)" TNNI3 191044 19q13.4 Cardiovascular 268 "Cardiomyopathy, familial hypertrophic, 4, 115197 (3)" "MYBPC3, CMH4" 600958 11p11.2 Cardiovascular 268 "Cardiomyopathy, familial hypertrophic, 9 (3)" "TTN, CMD1G, TMD, LGMD2J" 188840 2q24.3 Cardiovascular 268 "Cardiomyopathy, familial restrictive, 115210 (3)" TNNI3 191044 19q13.4 Cardiovascular 268 "Cardiomyopathy, hypertrophic, early-onset fatal (3)" COX15 603646 10q24 Cardiovascular 268 "Cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 608758 (3)" "MYL2, CMH10" 160781 12q23-q24.3 Cardiovascular 268 "Cardiomyopathy, hypertrophic, midventricular, digenic, 192600 (3)" "MYLK2, MLCK" 606566 20q13.3 Cardiovascular 268 "Cardiomyopathy, hypertrophic, with WPW, 600858 (3)" "PRKAG2, WPWS" 602743 7q36 Cardiovascular 268 "Cardiomyopathy, idiopathic dilated, 115200 (3)" "PLN, PLB" 172405 6q22.1 Cardiovascular 268 "Cardiomyopathy, X-linked dilated, 300069 (3)" "TAZ, EFE2, BTHS, CMD3A, LVNCX" 300394 Xq28 Cardiovascular 269 "Carney complex, type 1, 160980 (3)" "PRKAR1A, TSE1, CNC1, CAR" 188830 17q23-q24 multiple 269 "Carney complex variant, 608837 (3)" MYH8 160741 17p13.1 multiple 271 Carnitine-acylcarnitine translocase deficiency (3) "SLC25A20, CACT, CAC" 212138 3p21.31 Metabolic 272 "Carnitine deficiency, systemic primary, 212140 (3)" "SLC22A5, OCTN2, CDSP, SCD" 603377 5q31.1 Metabolic 275 "Carpal tunnel syndrome, familial (3)" "TTR, PALB" 176300 18q11.2-q12.1 Unclassified 276 "Cartilage-hair hypoplasia, 250250 (3)" "RMRP, RMRPR, CHH" 157660 9p21-p12 Skeletal 277 "Cataract, autosomal dominant nuclear (3)" "CRYAA, CRYA1" 123580 21q22.3 Ophthamological 277 "Cataract, cerulean, type 2, 601547 (3)" "CRYBB2, CRYB2" 123620 22q11.2-q12.2 Ophthamological 277 "Cataract, congenital (3)" PITX3 602669 10q25 Ophthamological 277 "Cataract, congenital, 604219 (3)" "BFSP2, CP49, CP47" 603212 3q21-q25 Ophthamological 277 "Cataract, congenital progressive, autosomal recessive (3)" "CRYAA, CRYA1" 123580 21q22.3 Ophthamological 277 "Cataract, congenital, with late-onset corneal dystrophy (3)" "PAX6, AN2, MGDA" 607108 11p13 Ophthamological 277 "Cataract, congenital zonular, with sutural opacities, 600881 (3)" "CRYBA1, CRYB1" 123610 17q11.1-q12 Ophthamological 277 "Cataract, Coppock-like, 604307 (3)" "CRYGC, CRYG3, CCL" 123680 2q33-q35 Ophthamological 277 "Cataract, cortical pulverulent, late-onset (3)" "LIM2, MP19" 154045 19q13.4 Ophthamological 277 "Cataract, crystalline aculeiform, 115700 (3)" "CRYGD, CRYG4" 123690 2q33-q35 Ophthamological 277 "Cataract, juvenile-onset, 604219 (3)" "BFSP2, CP49, CP47" 603212 3q21-q25 Ophthamological 277 "Cataract, lamellar, 116800 (3)" "HSF4, CTM" 602438 16q21-q22.1 Ophthamological 277 "Cataract, Marner type, 116800 (3)" "HSF4, CTM" 602438 16q21-q22.1 Ophthamological 277 "Cataract, polymorphic and lamellar, 604219 (3)" "MIP, AQP0" 154050 12q13 Ophthamological 277 "Cataract, posterior polar 2 (3)" "CRYAB, CRYA2, CTPP2" 123590 11q22.3-q23.1 Ophthamological 277 "Cataract, pulverulent (3)" CRYBB1 600929 22q11.2-q12.1 Ophthamological 277 "Cataracts, punctate, progressive juvenile-onset (3)" "CRYGD, CRYG4" 123690 2q33-q35 Ophthamological 277 "Cataract, sutural, with punctate and cerulean opacities, 607133 (3)" "CRYBB2, CRYB2" 123620 22q11.2-q12.2 Ophthamological 277 "Cataract, variable zonular pulverulent (3)" "CRYGC, CRYG3, CCL" 123680 2q33-q35 Ophthamological 277 "Cataract, zonular central nuclear, autosomal dominant (3)" "CRYAA, CRYA1" 123580 21q22.3 Ophthamological 277 "Cataract, zonular pulverulent-1, 116200 (3)" "GJA8, CX50, CAE1" 600897 1q21.1 Ophthamological 277 "Cataract, zonular pulverulent-3, 601885 (3)" "GJA3, CX46, CZP3, CAE3" 121015 13q11 Ophthamological 279 "Cavernous malformations of CNS and retina, 116860 (3)" "CCM1, CAM, KRIT1" 604214 7q11.2-q21 Cardiovascular 283 CD59 deficiency (3) "CD59, MIC11" 107271 11p13 Immunological 284 "CD8 deficiency, familial, 608957 (3)" CD8A 186910 2p12 Immunological 2287 "Central core disease, 117000 (3)" "RYR1, MHS, CCO" 180901 19q13.1 Muscular 2287 "Central core disease, one form (3) ()" "MYH7, CMH1, MPD1" 160760 14q12 Muscular 287 "Central hypoventilation syndrome, 209880 (3)" GDNF 600837 5p13.1-p12 Respiratory 287 "Central hypoventilation syndrome, congenital, 209880 (3)" BDNF 113505 11p13 Respiratory 287 "Central hypoventilation syndrome, congenital, 209880 (3)" EDN3 131242 20q13.2-q13.3 Respiratory 287 "Central hypoventilation syndrome, congenital, 209880 (3)" "PMX2B, NBPHOX, PHOX2B" 603851 4p12 Respiratory 287 "Central hypoventilation syndrome, congenital, 209880 (3)" "RET, MEN2A" 164761 10q11.2 Respiratory 289 "Cerebellar ataxia, 604290 (3)" CP 117700 3q23-q24 Neurological 289 "Cerebellar ataxia, pure (3)" "CACNA1A, CACNL1A4, SCA6" 601011 19p13 Neurological 4289 "Cerebellar hypoplasia, VLDLR-associated, 224050 (3)" "VLDLR, VLDLRCH" 192977 9p24 Neurological 291 "Cerebral amyloid angiopathy, 105150 (3)" "ABCA1, ABC1, HDLDT1, TGD" 600046 9q22-q31 Neurological 291 "Cerebral amyloid angiopathy, 105150 (3)" CST3 604312 20p11.2 Neurological 2291 "Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, 125310 (3)" "NOTCH3, CADASIL, CASIL" 600276 19p13.2-p13.1 Cardiovascular 4291 "Cerebral cavernous malformations-1, 116860 (3)" "CCM1, CAM, KRIT1" 604214 7q11.2-q21 Neurological 4291 "Cerebral cavernous malformations-2, 603284 (3)" "C7orf22, CCM2, MGC4067" 607929 7p13 Neurological 4291 "Cerebral cavernous malformations 3, 603285 (3)" "PDCD10, TFAR15, CCM3" 609118 3q26.1 Neurological 6291 "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)" "SNAP29, CEDNIK" 604202 22q11.2 Neurological 292 "Cerebrooculofacioskeletal syndrome, 214150 (3)" "ERCC2, EM9" 126340 19q13.2-q13.3 multiple 292 "Cerebrooculofacioskeletal syndrome, 214150 (3)" "ERCC5, XPG" 133530 13q33 multiple 292 Cerebrooculofacioskeletal syndrome 214150 (3) "ERCC6, CKN2, COFS, CSB" 609413 10q11 multiple 293 "Cerebrotendinous xanthomatosis, 213700 (3)" "CYP27A1, CYP27, CTX" 606530 2q33-qter Metabolic 294 "Cerebrovascular disease, occlusive (3)" "SERPINA3, AACT, ACT" 107280 14q32.1 Unclassified 295 "Ceroid lipofuscinosis, neuronal-1, infantile, 256730 (3)" "PPT1, CLN1" 600722 1p32 Neurological 296 "Ceroid-lipofuscinosis, neuronal 2, classic late infantile, 204500 (3)" CLN2 607998 11p15.5 Neurological 296 "Ceroid-lipofuscinosis, neuronal-3, juvenile, 204200 (3)" "CLN3, BTS" 607042 16p12.1 Neurological 296 "Ceroid-lipofuscinosis, neuronal-5, variant late infantile, 256731 (3)" CLN5 608102 13q21.1-q32 Neurological 296 "Ceroid-lipofuscinosis, neuronal-6, variant late infantile, 601780 (3)" CLN6 606725 15q21-q23 Neurological 296 "Ceroid lipofuscinosis, neuronal 8, 600143 (3)" "CLN8, EPMR" 607837 8pter-p22 Neurological 296 "Ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits (3)" "PPT1, CLN1" 600722 1p32 Neurological 298 "Cervical cancer, somatic, 603956 (3)" "FGFR3, ACH" 134934 4p16.3 Cancer 299 "CETP deficiency, 607322 (3)" CETP 118470 16q21 Metabolic 300 "Chanarin-Dorfman syndrome, 275630 (3)" "ABHD5, CGI58, IECN2, NCIE2" 604780 3p21 Metabolic 301 "Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3)" "HSPB1, HSP27, CMT2F" 602195 7q11.23 Neurological 301 "Charcot-Marie-Tooth disease, dominant intermediate 3, 607791 (3)" "MPZ, CMT1B, CMTDI3, CHM, DSS" 159440 1q22 Neurological 301 "Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)" DNM2 602378 19p13.2 Neurological 301 "Charcot-Marie-Tooth disease, foot deformity of (3)" "HOXD10, HOX4D" 142984 2q31-q32 Neurological 301 "Charcot-Marie-Tooth disease, mixed axonal and demyelinating type, 214400 (3)" "GDAP1, CMT4A, CMT2K, CMT2G" 606598 8q13-q21.1 Neurological 301 "Charcot-Marie-Tooth disease, type 1A, 118220 (3)" "PMP22, CMT1A, CMT1E, DSS" 601097 17p11.2 Neurological 301 "Charcot-Marie-Tooth disease, type 1B, 118200 (3)" "MPZ, CMT1B, CMTDI3, CHM, DSS" 159440 1q22 Neurological 301 "Charcot-Marie-Tooth disease, type 1C, 601098 (3)" "LITAF, CMT1C" 603795 16p13.3-p12 Neurological 301 "Charcot-Marie-Tooth disease, type 1D, 607678 (3)" "EGR2, KROX20" 129010 10q21.1-q22.1 Neurological 301 "Charcot-Marie-Tooth disease, type 1E, 118300 (3)" "PMP22, CMT1A, CMT1E, DSS" 601097 17p11.2 Neurological 301 "Charcot-Marie-Tooth disease, type 1F, 607734 (3)" "NEFL, CMT2E, CMT1F" 162280 8p21 Neurological 301 "Charcot-Marie-Tooth disease, type 2A1, 118210 (3)" "KIF1B, CMT2A, CMT2A1" 605995 1p36.2 Neurological 301 "Charcot-Marie-Tooth disease, type 2A2, 609260 (3)" "MFN2, KIAA0214, CMT2A2" 608507 1p36.2 Neurological 301 "Charcot-Marie-Tooth disease, type 2B, 600882 (3)" "RAB7, CMT2B, PSN" 602298 3q21 Neurological 301 "Charcot-Marie-Tooth disease, type 2D, 601472 (3)" "GARS, SMAD1, CMT2D" 600287 7p15 Neurological 301 "Charcot-Marie-Tooth disease, type 2E, 607684 (3)" "NEFL, CMT2E, CMT1F" 162280 8p21 Neurological 301 "Charcot-Marie-Tooth disease, type 2G, 607706 (3)" "GDAP1, CMT4A, CMT2K, CMT2G" 606598 8q13-q21.1 Neurological 301 "Charcot-Marie-Tooth disease, type 2I, 607677 (3)" "MPZ, CMT1B, CMTDI3, CHM, DSS" 159440 1q22 Neurological 301 "Charcot-Marie-Tooth disease, type 2J, 607736 (3)" "MPZ, CMT1B, CMTDI3, CHM, DSS" 159440 1q22 Neurological 301 "Charcot-Marie-Tooth disease, type 2K, 607831 (3)" "GDAP1, CMT4A, CMT2K, CMT2G" 606598 8q13-q21.1 Neurological 301 "Charcot-Marie-Tooth disease, type 4A, 214400 (3)" "GDAP1, CMT4A, CMT2K, CMT2G" 606598 8q13-q21.1 Neurological 301 "Charcot-Marie-Tooth disease, type 4B1, 601382 (3)" "MTMR2, CMT4B1" 603557 11q22 Neurological 301 "Charcot-Marie-Tooth disease, type 4B2, 604563 (3)" "SBF2, MTMR13, CMT4B2" 607697 11p15 Neurological 301 "Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma, 607739 (3)" "SBF2, MTMR13, CMT4B2" 607697 11p15 Neurological 301 "Charcot-Marie-Tooth disease, type 4C, 601596 (3)" KIAA1985 608206 5q32 Neurological 301 "Charcot-Marie-Tooth disease, type 4D, 601455 (3)" "NDRG1, HMSNL, CMT4D" 605262 8q24.3 Neurological 301 "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3)" "GJB1, CX32, CMTX1" 304040 Xq13.1 Neurological 302 "CHARGE syndrome, 214800 (3)" CHD7 608892 8q12.1 multiple 303 "Char syndrome, 169100 (3)" "TFAP2B, CHAR" 601601 6p12 multiple 304 "Chediak-Higashi syndrome, 214500 (3)" "CHS1, LYST" 606897 1q42.1-q42.2 multiple 305 "Cherubism, 118400 (3)" "SH3BP2, CRPM" 602104 4p16.3 Unclassified 306 "CHILD syndrome, 308050 (3)" NSDHL 300275 Xq28 Developmental 307 Chitotriosidase deficiency (3) CHIT 600031 1q31-q32 Metabolic 308 "Chloride diarrhea, congenital, Finnish type, 214700 (3)" "SLC26A3, DRA, CLD" 126650 7q22-q31.1 Gastrointestinal 309 "Cholelithiasis, 600803 (3)" "ABCB4, PGY3, MDR3" 171060 7q21.1 Gastrointestinal 310 "Cholestasis, benign recurrent intrahepatic, 243300 (3)" "ATP8B1, FIC1, BRIC, PFIC1" 602397 18q21 Gastrointestinal 310 "Cholestasis, familial intrahepatic, of pregnancy, 147480 (3)" "ABCB4, PGY3, MDR3" 171060 7q21.1 Gastrointestinal 310 "Cholestasis, progressive familial intrahepatic 1, 211600 (3)" "ATP8B1, FIC1, BRIC, PFIC1" 602397 18q21 Gastrointestinal 310 "Cholestasis, progressive familial intrahepatic 2, 601847 (3)" "ABCB11, BSEP, SPGP, PFIC2" 603201 2q24 Gastrointestinal 310 "Cholestasis, progressive familial intrahepatic 3, 602347 (3)" "ABCB4, PGY3, MDR3" 171060 7q21.1 Gastrointestinal 310 "Cholestasis, progressive familial intrahepatic 4, 607765 (3)" "HSD3B7, PFIC4" 607764 16p12-p11.2 Gastrointestinal 313 Cholesteryl ester storage disease (3) LIPA 278000 10q24-q25 Metabolic 314 "Chondrocalcinosis 2, 118600 (3)" "ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD" 605145 5p15.2-p14.1 Connective tissue disorder 2315 "Chondrodysplasia, Grebe type, 200700 (3)" "GDF5, CDMP1" 601146 20q11.2 Skeletal 315 "Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)" "GNPAT, DHAPAT" 602744 1q42 Connective tissue disorder 315 "Chondrodysplasia punctata, X-linked dominant, 302960 (3)" "EBP, CDPX2, CPXD, CPX" 300205 Xp11.23-p11.22 Connective tissue disorder 315 "Chondrodysplasia punctata, X-linked recessive, 302950 (3)" "ARSE, CDPX1, CDPXR" 300180 Xp22.3 Connective tissue disorder 316 "Chondrosarcoma, 215300 (3)" EXT1 608177 8q24.11-q24.13 Cancer 316 "Chondrosarcoma, extraskeletal myxoid (3)" CSMF 600542 9q22 Cancer 316 "Chondrosarcoma, extraskeletal myxoid (3)" "EWSR1, EWS" 133450 22q12 Cancer 318 "Chorea, hereditary benign, 118700 (3)" "TITF1, NKX2A, TTF1" 600635 14q13 Neurological 319 "Choreoacanthocytosis, 200150 (3)" "VPS13A, CHAC" 605978 9q21 Neurological 320 "Choreoathetosis, hypothyroidism, and respiratory distress (3)" "TITF1, NKX2A, TTF1" 600635 14q13 multiple 323 "Choroideremia, 303100 (3)" "CHM, TCD" 300390 Xq21.2 Ophthamological 326 "Chromosome 22q13.3 deletion syndrome, 606232 (3)" "PSAP2, PROSAP2, KIAA1650" 606230 22q13.3 multiple 327 "Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)" CYBA 608508 16q24 Immunological 327 "Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)" NCF1 608512 7q11.23 Immunological 327 "Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)" NCF2 608515 1q25 Immunological 327 "Chronic granulomatous disease, X-linked, 306400 (3)" "CYBB, CGD" 300481 Xp21.1 Immunological 2327 "Chronic infections, due to opsonin defect (3)" "MBL2, MBL, MBP1" 154545 10q11.2-q21 Immunological 328 "Chudley-Lowry syndrome, 309490 (3)" "ATRX, XH2, XNP, MRXS3, SHS" 300032 Xq13 multiple 329 "Chylomicronemia syndrome, familial (3)" "LPL, LIPD" 238600 8p22 Metabolic 330 "Chylomicron retention disease, 246700 (3)" "SARA2, SAR1B, CMRD" 607690 5q31.1 Gastrointestinal 330 "Chylomicron retention disease with Marinesco-Sjogren syndrome, 607692 (3)" "SARA2, SAR1B, CMRD" 607690 5q31.1 Gastrointestinal 331 "Ciliary dyskinesia, primary, 1, 242650 (3)" "DNAI1, CILD1, ICS, PCD" 604366 9p21-p13 Respiratory 331 "Ciliary dyskinesia, primary, 3 608644 (3)" "DNAH5, HL1, PCD, CILD3" 603335 5p15-p14 Respiratory 332 "CINCA syndrome, 607115 (3)" "CIAS1, C1orf7, FCU, FCAS" 606416 1q44 multiple 334 "Cirrhosis, cryptogenic (3)" KRT18 148070 12q13 Gastrointestinal 334 "Cirrhosis, cryptogenic (3)" KRT8 148060 12q13 Gastrointestinal 334 "Cirrhosis, noncryptogenic, susceptibility to, 215600 (3)" KRT18 148070 12q13 Gastrointestinal 334 "Cirrhosis, noncryptogenic, susceptibility to, 215600 (3)" KRT8 148060 12q13 Gastrointestinal 334 "Cirrhosis, North American Indian childhood type, 604901 (3)" "CIRH1A, NAIC, TEX292, KIAA1988" 607456 16q22 Gastrointestinal 335 "Citrullinemia, 215700 (3)" ASS 603470 9q34 Metabolic 335 "Citrullinemia, adult-onset type II, 603471 (3)" "SLC25A13, CTLN2" 603859 7q21.3 Metabolic 335 "Citrullinemia, type II, neonatal-onset, 605814 (3)" "SLC25A13, CTLN2" 603859 7q21.3 Metabolic 336 "Cleft lip/palate ectodermal dysplasia syndrome, 225000 (3)" "HVEC, PVRL1, PVRR1, PRR1" 600644 11q23-q24 Developmental 336 "Cleft lip/palate, nonsyndromic, 608874 (3)" "MSX1, HOX7, HYD1, OFC5" 142983 4p16.1 Developmental 336 "Cleft palate with ankyloglossia, 303400 (3)" "TBX22, CPX" 300307 Xq12-q21 Developmental 337 "Cleidocranial dysplasia, 119600 (3)" "RUNX2, CBFA1, PEBP2A1, AML3" 600211 6p21 Skeletal 338 "Coats disease, 300216 (3)" "NDP, ND" 310600 Xp11.4 Ophthamological 339 "Cockayne syndrome, type A, 216400 (3)" "ERCC8, CKN1, CSA" 609412 5q12 multiple 339 "Cockayne syndrome, type B, 133540 (3)" "ERCC6, CKN2, COFS, CSB" 609413 10q11 multiple 340 Codeine sensitivity (3) "CYP2D@, CYP2D, P450C2D" 124030 22q13.1 Metabolic 341 "Coffin-Lowry syndrome, 303600 (3)" "RPS6KA3, RSK2, MRX19" 300075 Xp22.2-p22.1 multiple 342 "Cohen syndrome, 216550 (3)" COH1 607817 8q22-q23 multiple 343 Colchicine resistance (3) "ABCB1, PGY1, MDR1" 171050 7q21.1 Unclassified 344 "Cold-induced autoinflammatory syndrome, familial, 120100 (3)" "CIAS1, C1orf7, FCU, FCAS" 606416 1q44 Immunological 2344 "Cold-induced sweating syndrome, 272430 (3)" "CRLF1, CISS" 604237 19p12 multiple 345 "Coloboma, ocular, 120200 (3)" "PAX6, AN2, MGDA" 607108 11p13 Ophthamological 345 "Coloboma, ocular, 120200 (3)" "SHH, HPE3, HLP3, SMMCI" 600725 7q36 Ophthamological 346 Colon adenocarcinoma (3) RAD54B 604289 8q21.3-q22 Cancer 346 Colon adenocarcinoma (3) "RAD54L, HR54, HRAD54" 603615 1p32 Cancer 346 Colon cancer (3) BCL10 603517 1p22 Cancer 346 Colon cancer (3) "PTPN12, PTPG1" 600079 7q11.23 Cancer 346 Colon cancer (3) "TGFBR2, HNPCC6" 190182 3p22 Cancer 346 "Colon cancer, advanced (3)" "SRC, ASV, SRC1" 190090 20q12-q13 Cancer 346 "Colon cancer, hereditary nonpolypopsis, type 7 (3)" "MLH3, HNPCC7" 604395 14q24.3 Cancer 346 "Colon cancer, somatic, 114500 (3)" "PTPRJ, DEP1" 600925 11p11.2 Cancer 346 "Colonic adenoma recurrence, reduced risk of, 114500 (3)" ODC1 165640 2p25 Cancer 347 "Colonic aganglionosis, total, with small bowel involvement (3)" "RET, MEN2A" 164761 10q11.2 Gastrointestinal 348 "Colorblindness, deutan (3)" "OPN1MW, GCP, CBD, CBBM" 303800 Xq28 Ophthamological 348 "Colorblindness, protan (3)" "OPN1LW, RCP, CBP, CBBM" 303900 Xq28 Ophthamological 348 "Colorblindness, tritan (3)" "OPN1SW, BCP, CBT" 190900 7q31.3-q32 Ophthamological 346 "Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)" MUTYH 604933 1p34.3-p32.1 Cancer 346 "Colorectal cancer, 114500 (3)" AXIN2 604025 17q24 Cancer 346 "Colorectal cancer, 114500 (3)" "BUB1B, BUBR1" 602860 15q15 Cancer 346 "Colorectal cancer, 114500 (3)" EP300 602700 22q13 Cancer 346 "Colorectal cancer, 114500 (3)" "PDGFRL, PDGRL, PRLTS" 604584 8p22-p21.3 Cancer 346 "Colorectal cancer, 114500 (3)" PIK3CA 171834 3q26.3 Cancer 346 "Colorectal cancer, 114500 (3)" "TP53, P53, LFS1" 191170 17p13.1 Cancer 346 Colorectal cancer (3) "APC, GS, FPC" 175100 5q21-q22 Cancer 346 Colorectal cancer (3) BAX 600040 19q13.3-q13.4 Cancer 346 Colorectal cancer (3) CTNNB1 116806 3p22-p21.3 Cancer 346 Colorectal cancer (3) DCC 120470 18q21.3 Cancer 346 Colorectal cancer (3) MCC 159350 5q21 Cancer 346 Colorectal cancer (3) NRAS 164790 1p13.2 Cancer 346 "Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3)" "MSH2, COCA1, FCC1, HNPCC1" 609309 2p22-p21 Cancer 346 "Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)" "MLH1, COCA2, HNPCC2" 120436 3p21.3 Cancer 346 "Colorectal cancer, hereditary nonpolyposis, type 3 (3)" "PMS1, PMSL1, HNPCC3" 600258 2q31-q33 Cancer 346 "Colorectal cancer, hereditary nonpolyposis, type 4 (3)" "PMS2, PMSL2, HNPCC4" 600259 7p22 Cancer 346 "Colorectal cancer, hereditary nonpolyposis, type 5 (3)" "MSH6, GTBP, HNPCC5" 600678 2p16 Cancer 346 "Colorectal cancer, hereditary nonpolyposis, type 6 (3)" "TGFBR2, HNPCC6" 190182 3p22 Cancer 346 "Colorectal cancer, somatic, 109800 (3)" "FGFR3, ACH" 134934 4p16.3 Cancer 346 "Colorectal cancer, somatic, 114500 (3)" "FLCN, BHD" 607273 17p11.2 Cancer 346 "Colorectal cancer, somatic, 114500 (3)" "MLH3, HNPCC7" 604395 14q24.3 Cancer 346 "Colorectal cancer, somatic (3)" BRAF 164757 7q34 Cancer 346 "Colorectal cancer, somatic (3)" DLC1 604258 8p22-p21.3 Cancer 346 "Colorectal cancer, sporadic, 114500 (3)" "PLA2G2A, PLA2B, PLA2L, MOM1" 172411 1p35 Cancer 346 "Colorectal cancer, susceptibility to (3)" "CCND1, PRAD1, BCL1" 168461 11q13 Cancer 346 Colorectal cancer with chromosomal instability (3) BUB1 602452 2q14 Cancer 4350 Combined C6/C7 deficiency (3) C6 217050 5p13 Immunological 350 "Combined factor V and VIII deficiency, 227300 (3)" "LMAN1, ERGIC53, F5F8D, MCFD1" 601567 18q21.3-q22 Hematological 2350 "Combined hyperlipemia, familial (3)" "LPL, LIPD" 238600 8p22 Metabolic 4350 "Combined immunodeficiency, X-linked, moderate, 312863 (3)" "IL2RG, SCIDX1, SCIDX, IMD4" 308380 Xq13 Immunological 6350 "Combined oxidative phosphorylation deficiency, 609060 (3)" "GFM1, EFG1, GFM" 606639 3q25.1-q26.2 multiple 8350 Combined SAP deficiency (3) "PSAP, SAP1" 176801 10q22.1 Metabolic 351 "Complex I, mitochondrial respiratory chain, deficiency of, 252010 (3)" NDUFS6 603848 5pter-p15.33 multiple 351 "Complex V, mitochondrial respiratory chain, deficiency of, 604273 (3)" "ATPAF2, ATP12" 608918 17p11.2 multiple 352 "Cone dystrophy-1, 304020 (3)" "RPGR, RP3, CRD, RP15, COD1" 312610 Xp21.1 Ophthamological 352 "Cone dystrophy-3, 602093 (3)" "GUCA1A, GCAP" 600364 6p21.1 Ophthamological 352 "Cone-rod dystrophy, 300029 (3)" "RPGR, RP3, CRD, RP15, COD1" 312610 Xp21.1 Ophthamological 352 Cone-rod dystrophy 3 (3) "ABCA4, ABCR, STGD1, FFM, RP19" 601691 1p21-p13 Ophthamological 352 Cone-rod dystrophy (3) "AIPL1, LCA4" 604392 17p13.1 Ophthamological 352 "Cone-rod dystrophy 6, 601777(3)" "GUCY2D, GUC2D, LCA1, CORD6" 600179 17p13.1 Ophthamological 352 "Cone-rod dystrophy 9, 608194 (3)" "RPGRIP1, LCA6, CORD9" 605446 14q11 Ophthamological 352 "Cone-rod retinal dystrophy-2, 120970 (3)" "CRX, CORD2, CRD" 602225 19q13.3 Ophthamological 2354 "Congenital bilateral absence of vas deferens, 277180 (3)" "CFTR, ABCC7, CF, MRP7" 602421 7q31.2 Unclassified 4354 "Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)" "CTDP1, FCP1, CCFDN" 604927 18q23 Ophthamological 354 "Congenital disorder of glycosylation, type Ic, 603147 (3)" ALG6 604566 1p22.3 Metabolic 354 "Congenital disorder of glycosylation, type Id, 601110 (3)" "ALG3, NOT56L, CDGS4" 608750 3q27 Metabolic 354 "Congenital disorder of glycosylation, type Ie, 608799 (3)" "DPM1, MPDS, CDGIE" 603503 20q13.13 Metabolic 354 "Congenital disorder of glycosylation, type If, 609180 (3)" "MPDU1, SL15, CDGIF" 604041 17p13.1-p12 Metabolic 354 "Congenital disorder of glycosylation, type Ig, 607143 (3)" ALG12 607144 Chr.22 Metabolic 354 "Congenital disorder of glycosylation, type Ih, 608104 (3)" ALG8 608103 11pter-p15.5 Metabolic 354 "Congenital disorder of glycosylation, type Ii, 607906 (3)" "ALG2, CDGII" 607905 9q22 Metabolic 354 "Congenital disorder of glycosylation, type II, 608776 (3)" "DIBD1, ALG9" 606941 11q23 Metabolic 354 "Congenital disorder of glycosylation, type IIc, 266265 (3)" "SLC35C1, FUCT1" 605881 11p11.2 Metabolic 354 "Congenital disorder of glycosylation, type IId, 607091 (3)" "B4GALT1, GGTB2, GT1, GTB" 137060 9p13 Metabolic 354 "Congenital disorder of glycosylation, type IIe, 608779 (3)" "COG7, CDG2E" 606978 16p Metabolic 354 "Congenital disorder of glycosylation, type Ij, 608093 (3)" "DPAGT2, DGPT" 191350 11q23.3 Metabolic 354 "Congenital disorder of glycosylation, type Ik, 608540 (3)" "ALG1, HMAT1, HMT1" 605907 16p13.3 Metabolic 355 "Congestive heart failure, susceptibility to (3)" "ADRA2C, ADRA2L2" 104250 4p16.1 Cardiovascular 355 "Congestive heart failure, susceptibility to (3)" "ADRB1, ADRB1R, RHR" 109630 10q24-q26 Cardiovascular 356 "Conjunctivitis, ligneous, 217090 (3)" PLG 173350 6q26 Ophthamological 357 "Conotruncal anomaly face syndrome, 217095 (3)" "TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR" 602054 22q11.2 Cardiovascular 358 "Contractural arachnodactyly, congenital (3)" "FBN2, CCA" 121050 5q23-q31 Connective tissue disorder 359 "Convulsions, familial febrile, 4, 604352 (3)" "MASS1, VLGR1, KIAA0686, FEB4, USH2C" 602851 5q14 Neurological 360 "COPD, rate of decline of lung function in, 606963 (3)" "MMP1, CLG" 120353 11q22-q23 Respiratory 361 Coproporphyria (3) CPO 121300 3q12 Metabolic 362 "Corneal clouding, autosomal recessive (3)" APOA1 107680 11q23 Ophthamological 362 "Corneal dystrophy, Avellino type, 607541 (3)" "TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2" 601692 5q31 Ophthamological 362 "Corneal dystrophy, gelatinous drop-like, 204870 (3)" "TACSTD2, TROP2, M1S1" 137290 1p32 Ophthamological 362 "Corneal dystrophy, Groenouw type I, 121900 (3)" "TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2" 601692 5q31 Ophthamological 362 "Corneal dystrophy, hereditary polymorphous posterior, 122000 (3)" "VSX1, RINX, PPCD, PPD, KTCN" 605020 20p11.2 Ophthamological 362 "Corneal dystrophy, hereditary polymorphous posterior, 2, 122000 (3)" "COL8A2, FECD, PPCD2" 120252 1p34.3-p32.3 Ophthamological 362 "Corneal dystrophy, lattice type I, 122200 (3)" "TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2" 601692 5q31 Ophthamological 362 "Corneal dystrophy, lattice type IIIA, 608471 (3)" "TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2" 601692 5q31 Ophthamological 362 "Corneal dystrophy, Reis-Bucklers type, 608470 (3)" "TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2" 601692 5q31 Ophthamological 362 "Corneal dystrophy, Thiel-Behnke type, 602082 (3)" "TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2" 601692 5q31 Ophthamological 362 "Corneal fleck dystrophy, 121850 (3)" "PIP5K3, CFD" 609414 2q35 Ophthamological 362 "Cornea plana congenita, recessive, 217300 (3)" "KERA, CNA2" 603288 12q22 Ophthamological 364 "Cornelia de Lange syndrome, 122470 (3)" "NIPBL, CDLS" 608667 5p13.1 Developmental 365 "Coronary artery disease, autosomal dominant, 1, 608320 (3)" "MEF2A, ADCAD1" 600660 15q26 Cardiovascular 365 "Coronary artery disease in familial hypercholesterolemia, protection against, 143890 (3)" "ABCA1, ABC1, HDLDT1, TGD" 600046 9q22-q31 Cardiovascular 365 "Coronary artery disease, susceptibility to (3)" KL 604824 13q12 Cardiovascular 365 "Coronary artery disease, susceptibility to (3)" "PON1, PON, ESA" 168820 7q21.3 Cardiovascular 365 "Coronary artery disease, susceptibility to (3)" PON2 602447 7q21.3 Cardiovascular 365 "Coronary artery spasm, susceptibility to (3)" "PON1, PON, ESA" 168820 7q21.3 Cardiovascular 365 "Coronary heart disease, susceptibility to (3)" "MMP3, STMY1" 185250 11q23 Cardiovascular 2365 "Coronary spasms, susceptibility to (3)" NOS3 163729 7q36 Cardiovascular 366 "Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3)" IGBP1 300139 Xq13.1-q13.3 Neurological 367 Cortisol resistance (3) "NR3C1, GCR, GRL" 138040 5q31 Endocrine 368 "Cortisone reductase deficiency, 604931 (3)" GDH 138090 1pter-p36.13 Metabolic 368 "Cortisone reductase deficiency, 604931 (3)" "HSD11B1, HSD11, HSD11L" 600713 1q32-q41 Metabolic 369 "Costello syndrome, 218040 (3)" HRAS 190020 11p15.5 multiple 370 "Coumarin resistance, 122700 (3)" "CYP2A6, CYP2A3, CYP2A, P450C2A" 122720 19q13.2 Hematological 372 "Cowden disease, 158350 (3)" "PTEN, MMAC1" 601728 10q23.31 Cancer 372 "Cowden-like syndrome, 158350 (3)" "BMPR1A, ACVRLK3, ALK3" 601299 10q22.3 Cancer 374 "CPT deficiency, hepatic, type IA, 255120 (3)" CPT1A 600528 11q13 Metabolic 374 "CPT deficiency, hepatic, type II, 600649 (3)" CPT2 600650 1p32 Metabolic 374 "CPT II deficiency, lethal neonatal, 608836 (3)" CPT2 600650 1p32 Metabolic 376 "Cramps, familial, potassium-aggravated (3)" "SCN4A, HYPP, NAC1A" 603967 17q23.1-q25.3 Muscular 377 "Craniofacial anomalies, empty sella turcica, corneal endothelial changes, and abnormal retinal and auditory bipolar cells (3)" "VSX1, RINX, PPCD, PPD, KTCN" 605020 20p11.2 multiple 378 "Craniofacial-deafness-hand syndrome, 122880 (3)" "PAX3, WS1, HUP2, CDHS" 606597 2q35 multiple 379 Craniofacial-skeletal-dermatologic dysplasia (3) "FGFR2, BEK, CFD1, JWS" 176943 10q26 multiple 380 "Craniofrontonasal dysplasia, 304110 (3)" "EFNB1, EPLG2, CFNS, CFND" 300035 Xq12 Skeletal 382 "Craniometaphyseal dysplasia, 123000 (3)" "ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD" 605145 5p15.2-p14.1 Bone 383 "Craniosynostosis, nonspecific (3)" "FGFR2, BEK, CFD1, JWS" 176943 10q26 Skeletal 383 "Craniosynostosis, type 2, 604757 (3)" "MSX2, CRS2, HOX8" 123101 5q34-q35 Skeletal 384 "CRASH syndrome, 303350 (3)" "L1CAM, CAML1, HSAS1" 308840 Xq28 multiple 2385 "Creatine deficiency syndrome, X-linked, 300352 (3)" "SLC6A8, CRTR" 300036 Xq28 Neurological 385 "Creatine phosphokinase, elevated serum, 123320 (3)" "CAV3, LGMD1C" 601253 3p25 Metabolic 385 "Creatine phosphokinase, elevated serum, 123320 (3)" "CAV3, LGMD1C" 601253 3p25 Metabolic 388 "Creutzfeldt-Jakob disease, 123400 (3)" "PRNP, PRIP" 176640 20pter-p12 Neurological 388 "Creutzfeldt-Jakob disease, variant, resistance to, 123400 (3)" HLA-DQB1 604305 6p21.3 Neurological 389 "Crigler-Najjar syndrome, type I, 218800 (3)" "UGT1A1, UGT1, GNT1" 191740 2q37 multiple 389 "Crigler-Najjar syndrome, type II, 606785 (3)" "UGT1A1, UGT1, GNT1" 191740 2q37 multiple 390 "Crohn disease, susceptibility to, 266600 (3)" "CARD15, NOD2, IBD1, CD, ACUG, PSORAS1" 605956 16q12 Gastrointestinal 390 "Crohn disease, susceptibility to, 266600 (3)" "DLG5, PDLG, KIAA0583" 604090 10q23 Gastrointestinal 391 "Crouzon syndrome, 123500 (3)" "FGFR2, BEK, CFD1, JWS" 176943 10q26 Skeletal 391 Crouzon syndrome with acanthosis nigricans (3) "FGFR3, ACH" 134934 4p16.3 Skeletal 392 "Cryptorchidism, bilateral, 219050 (3)" "LGR8, GREAT" 606655 13q13.1 Renal 392 "Cryptorchidism, idiopathic, 219050 (3)" INSL3 146738 19p13.2 Renal 394 "Currarino syndrome, 176450 (3)" "HLXB9, HOXHB9, SCRA1" 142994 7q36 Skeletal 395 "Cutis laxa, AD, 123700 (3)" ELN 130160 7q11.2 Connective tissue disorder 395 "Cutis laxa, autosomal dominant, 123700 (3)" "FBLN5, ARMD3" 604580 14q32.1 Connective tissue disorder 395 "Cutis laxa, autosomal recessive, 219100 (3)" "FBLN5, ARMD3" 604580 14q32.1 Connective tissue disorder 395 "Cutis laxa, neonatal (3)" "ATP7A, MNK, MK, OHS" 300011 Xq12-q13 Connective tissue disorder 396 "Cyclic ichthyosis with epidermolytic hyperkeratosis, 607602 (3)" KRT1 139350 12q13 Dermatological 397 "Cylindromatosis, familial, 132700 (3)" "CYLD1, CDMT, EAC" 605018 16q12-q13 Dermatological 398 "Cystathioninuria, 219500 (3)" CTH 607657 1p31.1 Metabolic 399 "Cystic fibrosis, 219700 (3)" "CFTR, ABCC7, CF, MRP7" 602421 7q31.2 Respiratory 400 "Cystinosis, atypical nephropathic (3)" CTNS 606272 17p13 Renal 400 "Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)" CTNS 606272 17p13 Renal 400 "Cystinosis, nephropathic, 219800 (3)" CTNS 606272 17p13 Renal 400 "Cystinosis, ocular nonnephropathic, 219750 (3)" CTNS 606272 17p13 Renal 401 "Cystinuria, 220100 (3)" "SLC3A1, ATR1, D2H, NBAT" 104614 2p16.3 Renal 401 "Cystinuria, type II (3)" "SLC7A9, CSNU3" 604144 19q13.1 Renal 401 "Cystinuria, type III (3)" "SLC7A9, CSNU3" 604144 19q13.1 Renal 402 "D-2-hydroxyglutaric aciduria, 600721 (3)" D2HGD 609186 2p25.3 Metabolic 404 "Darier disease, 124200 (3)" "ATP2A2, ATP2B, DAR" 108740 12q23-q24.1 Dermatological 405 "D-bifunctional protein deficiency, 261515 (3)" HSD17B4 601860 5q2 Metabolic 406 "Deafness, autosomal dominant 10, 601316 (3)" "EYA4, DFNA10, CMD1J" 603550 6q23 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 1, 124900 (3)" "DIAPH1, DFNA1, LFHL1" 602121 5q31 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 11, neurosensory, 601317 (3)" "MYO7A, USH1B, DFNB2, DFNA11" 276903 11q13.5 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 12, 601842 (3)" "TECTA, DFNA8, DFNA12, DFNB21" 602574 11q22-q24 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 13, 601868 (3)" "COL11A2, STL3, DFNA13" 120290 6p21.3 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 15, 602459 (3)" "POU4F3, BRN3C" 602460 5q31 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 17, 603622 (3)" "MYH9, MHA, FTNS, DFNA17" 160775 22q11.2 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 20/26, 604717 (3)" "ACTG1, DFNA20, DFNA26" 102560 17q25.3 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 22, 606346 (3)" "MYO6, DFNA22, DFNB37" 600970 6q13 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 2, 600101 (3)" "GJB3, CX31, DFNA2" 603324 1p35.1 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 2, 600101 (3)" "KCNQ4, DFNA2" 603537 1p34 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 28, 608641 (3)" "TFCP2L3, DFNA28" 608576 8q22 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 3, 601544 (3)" "GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID" 121011 13q11-q12 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 3, 601544 (3)" "GJB6, CX30, DFNA3, HED, ED2" 604418 13q12 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 36, 606705 (3)" "TMC1, DFNB7, DFNB11, DFNA36" 606706 9q13-q21 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 36, with dentinogenesis, 605594 (3)" "DSPP, DPP, DGI1, DFNA39, DTDP2" 125485 4q21.3 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 40 (3)" "CRYM, DFNA40" 123740 16p13.11-p12.3 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 4, 600652 (3)" "MYH14, KIAA2034, DFNA4" 608568 19q13.33 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 5 (3)" DFNA5 600994 7p15 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 8, 601543 (3)" "TECTA, DFNA8, DFNA12, DFNB21" 602574 11q22-q24 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant 9, 601369 (3)" "COCH, DFNA9" 603196 14q12-q13 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant nonsyndromic sensorineural, 607841 (3)" MYO1A 601478 12q13-q15 "Ear,Nose,Throat" 406 "Deafness, autosomal dominant, with peripheral neuropathy (3)" "GJB3, CX31, DFNA2" 603324 1p35.1 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 10, congenital, 605316 (3)" "TMPRSS3, ECHOS1, DFNB8, DFNB10" 605511 21q22.3 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 1, 220290 (3)" "GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID" 121011 13q11-q12 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 12, 601386 (3)" "CDH23, USH1D" 605516 10q21-q22 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 12, modifier of, 601386 (3)" "ATP2B2, PMCA2" 108733 3p26-p25 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 16, 603720 (3)" "STRC, DFNB16" 606440 15q15 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 18, 602092 (3)" "USH1C, DFNB18" 605242 11p15.1 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 21, 603629 (3)" "TECTA, DFNA8, DFNA12, DFNB21" 602574 11q22-q24 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 22, 607039 (3)" "OTOA, DFNB22" 607038 16p12.2 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 23, 609533 (3)" "PCDH15, DFNB23" 605514 10q21-q22 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 29 (3)" "CLDN14, DFNB29" 605608 21q22.3 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 2, neurosensory, 600060 (3)" "MYO7A, USH1B, DFNB2, DFNA11" 276903 11q13.5 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 30, 607101 (3)" "MYO3A, DFNB30" 606808 10p11.1 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 31, 607084 (3)" "WHRN, CIP98, KIAA1526, DFNB31" 607928 9q32-q34 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 3, 600316 (3)" "MYO15A, DFNB3" 602666 17p11.2 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 36, 609006 (3)" ESPN 606351 1p36.3-p36.1 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 37, 607821 (3)" "MYO6, DFNA22, DFNB37" 600970 6q13 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive (3)" "GJB3, CX31, DFNA2" 603324 1p35.1 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 4, 600791 (3)" "SLC26A4, PDS, DFNB4" 605646 7q31 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 61 (3)" "PRES, DFNB61, SLC26A5" 604943 7q22.1 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 6, 600971 (3)" "TMIE, DFNB6" 607237 3p21 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 7, 600974 (3)" "TMC1, DFNB7, DFNB11, DFNA36" 606706 9q13-q21 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 8, childhood onset, 601072 (3)" "TMPRSS3, ECHOS1, DFNB8, DFNB10" 605511 21q22.3 "Ear,Nose,Throat" 406 "Deafness, autosomal recessive 9, 601071 (3)" "OTOF, DFNB9, NSRD9" 603681 2p23-p22 "Ear,Nose,Throat" 406 "Deafness, congenital heart defects, and posterior embryotoxon (3)" "JAG1, AGS, AHD" 601920 20p12 "Ear,Nose,Throat" 406 "Deafness, nonsyndromic (3) ()" KIAA1199 608366 15q24 "Ear,Nose,Throat" 406 "Deafness, nonsyndromic neurosensory, digenic (3)" "GJB6, CX30, DFNA3, HED, ED2" 604418 13q12 "Ear,Nose,Throat" 406 "Deafness, sensorineural, with hypertrophic cardiomyopathy, 606346 (3)" "MYO6, DFNA22, DFNB37" 600970 6q13 "Ear,Nose,Throat" 406 "Deafness, X-linked 1, progressive (3)" "TIMM8A, DFN1, DDP, MTS, DDP1" 300356 Xq22 "Ear,Nose,Throat" 406 "Deafness, X-linked 3, conductive, with stapes fixation, 304400 (3)" "POU3F4, DFN3" 300039 Xq21.1 "Ear,Nose,Throat" 407 Debrisoquine sensitivity (3) "CYP2D@, CYP2D, P450C2D" 124030 22q13.1 Metabolic 410 "Dejerine-Sottas disease, 145900 (3)" "PMP22, CMT1A, CMT1E, DSS" 601097 17p11.2 multiple 410 "Dejerine-Sottas neuropathy, 145900 (3)" "EGR2, KROX20" 129010 10q21.1-q22.1 multiple 410 "Dejerine-Sottas neuropathy, autosomal recessive, 145900 (3)" "PRX, CMT4F" 605725 19q13.1-q13.2 multiple 410 "Dejerine-Sottas syndrome, 145900 (3)" "MPZ, CMT1B, CMTDI3, CHM, DSS" 159440 1q22 multiple 411 "Delayed sleep phase syndrome, susceptibility to (3)" "AANAT, SNAT" 600950 17q25 Psychiatric 412 "Dementia, familial British, 176500 (3)" "ITM2B, BRI, ABRI, FBD" 603904 13q14 Neurological 412 "Dementia, familial Danish, 117300 (3)" "ITM2B, BRI, ABRI, FBD" 603904 13q14 Neurological 412 "Dementia, frontotemporal, 600274 (3)" "PSEN1, AD3" 104311 14q24.3 Neurological 412 "Dementia, frontotemporal, with parkinsonism, 600274 (3)" "MAPT, MTBT1, DDPAC, MSTD" 157140 17q21.1 Neurological 412 "Dementia, Lewy body, 127750 (3)" "SNCA, NACP, PARK1, PARK4" 163890 4q21 Neurological 412 "Dementia, Lewy body, 127750 (3)" SNCB 602569 5q35 Neurological 412 "Dementia, Pick disease-like, 172700 (3)" "MAPT, MTBT1, DDPAC, MSTD" 157140 17q21.1 Neurological 412 "Dementia, vascular, susceptibility to (3)" "TNF, TNFA" 191160 6p21.3 Neurological 413 "Dengue fever, protection against (3)" "CD209, CDSIGN" 604672 19p13.3 Immunological 414 "Dental anomalies, isolated (3)" "RUNX2, CBFA1, PEBP2A1, AML3" 600211 6p21 Skeletal 415 "Dentatorubro-pallidoluysian atrophy, 125370 (3)" DRPLA 607462 12p13.31 Neurological 416 "Dent disease, 300009 (3)" "CLCN5, CLCK2, NPHL2, DENTS" 300008 Xp11.22 Renal 417 "Dentin dysplasia, type II, 125420 (3)" "DSPP, DPP, DGI1, DFNA39, DTDP2" 125485 4q21.3 Bone 418 "Dentinogenesis imperfecta, Shields type II, 125490 (3)" "DSPP, DPP, DGI1, DFNA39, DTDP2" 125485 4q21.3 Bone 418 "Dentinogenesis imperfecta, Shields type III, 125500 (3)" "DSPP, DPP, DGI1, DFNA39, DTDP2" 125485 4q21.3 Bone 416 "Dent syndrome, 300009 (3)" "OCRL, LOCR, OCRL1, NPHL2" 300535 Xq26.1 Renal 420 "Denys-Drash syndrome, 194080 (3)" WT1 607102 11p13 Renal 422 Dermatofibrosarcoma protuberans (3) "PDGFB, SIS" 190040 22q12.3-q13.1 Cancer 424 "De Sanctis-Cacchione syndrome, 278800 (3)" "ERCC6, CKN2, COFS, CSB" 609413 10q11 multiple 425 "Desmoid disease, hereditary, 135290 (3)" "APC, GS, FPC" 175100 5q21-q22 Cancer 426 "Desmosterolosis, 602398 (3)" "DHCR24, KIAA0018" 606418 1p33-p31.1 Metabolic 2427 "Diabetes insipidus, nephrogenic, 304800 (3)" "AVPR2, DIR, DI1, ADHR" 300538 Xq28 Endocrine 2427 "Diabetes insipidus, nephrogenic, autosomal dominant, 125800 (3)" AQP2 107777 12q13 Endocrine 2427 "Diabetes insipidus, nephrogenic, autosomal recessive, 222000 (3)" AQP2 107777 12q13 Endocrine 2427 "Diabetes insipidus, neurohypophyseal, 125700 (3)" "AVP, AVRP, VP" 192340 20p13 Endocrine 427 "Diabetes mellitus, 125853 (3)" "ABCC8, SUR, PHHI, SUR1" 600509 11p15.1 Endocrine 427 "Diabetes mellitus, insulin-dependent, 222100 (3)" "TCF1, HNF1A, MODY3" 142410 12q24.2 Endocrine 427 "Diabetes mellitus, insulin-dependent, 5, 600320 (3)" "SUMO4, IDDM5" 608829 6q25 Endocrine 427 "Diabetes mellitus, insulin-dependent, susceptibility to, 222100 (3)" "PTPN8, PEP, PTPN22, LYP" 600716 1p13 Endocrine 427 "Diabetes mellitus, insulin-resistant, with acanthosis nigricans (3)" INSR 147670 19p13.2 Endocrine 427 "Diabetes mellitus, insulin-resistant, with acanthosis nigricans and hypertension, 604367 (3)" "PPARG, PPARG1, PPARG2" 601487 3p25 Endocrine 427 "Diabetes mellitus, neonatal-onset, 606176 (3)" GCK 138079 7p15-p13 Endocrine 427 "Diabetes mellitus, noninsulin-dependent, 125853 (3)" GCGR 138033 17q25 Endocrine 427 "Diabetes mellitus, noninsulin-dependent, 125853 (3)" GPD2 138430 2q24.1 Endocrine 427 "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "HNF4A, TCF14, MODY1" 600281 20q12-q13.1 Endocrine 427 "Diabetes mellitus, noninsulin-dependent, 125853 (3)" IRS2 600797 13q34 Endocrine 427 "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "MAPK8IP1, IB1" 604641 11p12-p11.2 Endocrine 427 "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "NEUROD1, NIDDM" 601724 2q32 Endocrine 427 "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "TCF2, HNF2" 189907 17cen-q21.3 Endocrine 427 "Diabetes mellitus, noninsulin-dependent, 2, 125853 (3)" "TCF1, HNF1A, MODY3" 142410 12q24.2 Endocrine 427 "Diabetes mellitus, noninsulin-dependent (3)" IRS1 147545 2q36 Endocrine 427 "Diabetes mellitus, noninsulin-dependent (3)" "SLC2A2, GLUT2" 138160 3q26.1-q26.3 Endocrine 427 "Diabetes mellitus, noninsulin-dependent (3)" "SLC2A4, GLUT4" 138190 17p13 Endocrine 427 "Diabetes mellitus, noninsulin-dependent, 601283 (3)" CAPN10 605286 2q37.3 Endocrine 427 "Diabetes mellitus, non-insulin-dependent, susceptibility to, 125853 (3)" "ENPP1, PDNP1, NPPS, M6S1, PCA1" 173335 6q22-q23 Endocrine 427 "Diabetes mellitus, noninsulin-dependent, susceptibility to, 125853 (3)" "RETN, RSTN, FIZZ3" 605565 19p13.2 Endocrine 427 "Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 (3)" PTF1A 607194 10p12.3 Endocrine 427 "Diabetes mellitus, permanent neonatal, with neurologic features, 606176 (3)" "KCNJ11, BIR, PHHI" 600937 11p15.1 Endocrine 427 "Diabetes mellitus, type II, 125853 (3)" AKT2 164731 19q13.1-q13.2 Endocrine 427 "Diabetes mellitus, type II, susceptibility to, 125853 (3)" IPF1 600733 13q12.1 Endocrine 427 "Diabetes mellitus, type I, susceptibility to, 222100 (3)" "FOXP3, IPEX, AIID, XPID, PIDX" 300292 Xp11.23-q13.3 Endocrine 427 "Diabetes, permanent neonatal, 606176 (3)" "KCNJ11, BIR, PHHI" 600937 11p15.1 Endocrine 427 "Diabetic nephropathy, susceptibility to, 603933 (3)" "ACE, DCP1, ACE1" 106180 17q23 Endocrine 427 "Diabetic retinopathy, NIDDM-related, susceptibility to, 125853 (3)" VEGF 192240 6p12 Endocrine 430 "Diastrophic dysplasia, 222600 (3)" "SLC26A2, DTD, DTDST, D5S1708, EDM4" 606718 5q32-q33.1 Skeletal 430 "Diastrophic dysplasia, broad bone-platyspondylic variant (3)" "SLC26A2, DTD, DTDST, D5S1708, EDM4" 606718 5q32-q33.1 Skeletal 432 "DiGeorge syndrome, 188400 (3)" "TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR" 602054 22q11.2 multiple 433 Dihydropyrimidinuria (3) "DPYS, DHP" 222748 8q22 Metabolic 434 "Dilated cardiomyopathy with woolly hair and keratoderma, 605676 (3)" "DSP, KPPS2, PPKS2" 125647 6p24 multiple 435 "Dimethylglycine dehydrogenase deficiency, 605850 (3)" "DMGDH, DMGDHD" 605849 5q12.2-q12.3 Metabolic 438 "Disordered steroidogenesis, isolated (3)" POR 124015 7q11.2 Metabolic 439 Dissection of cervical arteries (3) COL1A1 120150 17q21.31-q22 Connective tissue disorder 2440 DNA ligase I deficiency (3) LIG1 126391 19q13.2-q13.3 multiple 440 "DNA topoisomerase I, camptothecin-resistant (3)" TOP1 126420 20q12-q13.1 Metabolic 440 "DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)" "TOP2A, TOP2" 126430 17q21-q22 Metabolic 441 "Dopamine-beta-hydroxylase activity levels, plasma (3)" DBH 609312 9q34 Metabolic 441 "Dopamine beta-hydroxylase deficiency, 223360 (3)" DBH 609312 9q34 Metabolic 443 "Dosage-sensitive sex reversal, 300018 (3)" "DAX1, AHC, AHX, NROB1" 300473 Xp21.3-p21.2 Endocrine 444 "Double-outlet right ventricle, 217095 (3)" "CFC1, CRYPTIC, HTX2" 605194 2q21.1 Cardiovascular 445 "Down syndrome, risk of, 190685 (3)" MTR 156570 1q43 multiple 446 "Doyne honeycomb degeneration of retina, 126600 (3)" "EFEMP1, FBNL, DHRD" 601548 2p16 Ophthamological 447 "Drug addiction, susceptibility to (3)" FAAH 602935 1p35-p34 Psychiatric 449 "Duane-radial ray syndrome, 607323 (3)" "SALL4, HSAL4" 607343 20q13.13-q13.2 multiple 450 "Dubin-Johnson syndrome, 237500 (3)" "ABCC2, CMOAT" 601107 10q24 Metabolic 451 "Duchenne muscular dystrophy, 310200 (3)" "DMD, BMD" 300377 Xp21.2 Muscular 452 "Dyggve-Melchior-Clausen disease, 223800 (3)" "DYM, FLJ90130, DMC, SMC" 607461 18q12-q21.1 multiple 453 Dysalbuminemic hyperthyroxinemia (3) ALB 103600 4q11-q13 Hematological 454 "Dysautonomia, familial, 223900 (3)" "IKBKAP, IKAP" 603722 9q31 Neurological 455 "Dyschromatosis symmetrica hereditaria, 127400 (3)" "ADAR, DRADA, DSH, DSRAD" 601059 1q21.3 Dermatological 456 "Dyserythropoietic anemia with thrombocytopenia, 300367 (3)" "GATA1, GF1, ERYF1, NFE1" 305371 Xp11.23 Hematological 457 "Dysfibrinogenemia, alpha type, causing bleeding diathesis (3)" FGA 134820 4q28 Hematological 457 "Dysfibrinogenemia, alpha type, causing recurrent thrombosis (3)" FGA 134820 4q28 Hematological 457 "Dysfibrinogenemia, beta type (3)" FGB 134830 4q28 Hematological 457 "Dysfibrinogenemia, gamma type (3)" FGG 134850 4q28 Hematological 458 "Dyskeratosis congenita-1, 305000 (3)" "DKC1, DKC" 300126 Xq28 Dermatological 458 "Dyskeratosis congenita, autosomal dominant, 127550 (3)" "TERC, TRC3, TR" 602322 3q21-q28 Dermatological 459 "Dyslexia, susceptibility to, 1, 127700 (3)" "DYX1C1, DYXC1, DYX1" 608706 15q21 Psychiatric 459 "Dyslexia, susceptibility to, 2, 600202 (3)" "KIAA0319, DYX2, DYLX2, DLX2" 609269 6p22.2 Psychiatric 460 Dysprothrombinemia (3) F2 176930 11p11-q12 Hematological 461 "Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3)" "HSPG2, PLC, SJS, SJA, SJS1" 142461 1p36.1 Neurological 462 "Dystonia-12, 128235 (3)" "ATP1A3, DYT12, RDP" 182350 19q12-q13.2 Neurological 462 "Dystonia-1, torsion, 128100 (3)" "DYT1, TOR1A" 605204 9q34 Neurological 462 "Dystonia, DOPA-responsive, 128230 (3)" "GCH1, DYT5" 600225 14q22.1-q22.2 Neurological 462 "Dystonia, early-onset atypical, with myoclonic features (3)" "DYT1, TOR1A" 605204 9q34 Neurological 462 "Dystonia, myoclonic, 159900 (3)" DRD2 126450 11q23 Neurological 462 "Dystonia, myoclonic, 159900 (3)" "SGCE, DYT11" 604149 7q21 Neurological 462 "Dystonia, primary cervical (3)" "DRD5, DRD1B, DRD1L2" 126453 4p16.1-p15.3 Neurological 463 Dystransthyretinemic hyperthyroxinemia(3) "TTR, PALB" 176300 18q11.2-q12.1 Hematological 465 "EBD, Bart type, 132000 (3)" COL7A1 120120 3p21.3 Dermatological 465 "EBD, localisata variant (3)" COL7A1 120120 3p21.3 Dermatological 466 "Ectodermal dysplasia-1, anhidrotic, 305100 (3)" "ED1, EDA, HED" 300451 Xq12-q13.1 Dermatological 466 "Ectodermal dysplasia 2, hidrotic, 129500 (3)" "GJB6, CX30, DFNA3, HED, ED2" 604418 13q12 Dermatological 466 "Ectodermal dysplasia, anhidrotic, 224900 (3)" EDARADD 606603 1q42.2-q43 Dermatological 466 "Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)" "IKBKG, NEMO, FIP3, IP2" 300248 Xq28 Dermatological 466 "Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency (3)" "NFKBIA, IKBA" 164008 14q13 Dermatological 466 "Ectodermal dysplasia, hypohidrotic, autosomal dominant, 129490 (3)" "EDAR, DL, ED3, EDA3" 604095 2q11-q13 Dermatological 466 "Ectodermal dysplasia, hypohidrotic, autosomal recessive, 224900 (3)" "EDAR, DL, ED3, EDA3" 604095 2q11-q13 Dermatological 466 "Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3)" "IKBKG, NEMO, FIP3, IP2" 300248 Xq28 Dermatological 466 "Ectodermal dysplasia, Margarita Island type, 225060 (3)" "HVEC, PVRL1, PVRR1, PRR1" 600644 11q23-q24 Dermatological 466 "Ectodermal dysplasia/skin fragility syndrome, 604536 (3)" PKP1 601975 1q32 Dermatological 467 "Ectopia lentis, familial, 129600 (3)" "FBN1, MFS1, WMS" 134797 15q21.1 Ophthamological 467 "Ectopia pupillae, 129750 (3)" "PAX6, AN2, MGDA" 607108 11p13 Ophthamological 468 "Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3)" "TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS" 603273 3q27 Skeletal 470 "Ehlers-Danlos due to tenascin X deficiency, 606408 (3)" "TNXB, TNX, TNXB1, TNXBS, TNXB2" 600985 6p21.3 Connective tissue disorder 470 "Ehlers-Danlos syndrome, hypermobility type, 130020 (3)" "TNXB, TNX, TNXB1, TNXBS, TNXB2" 600985 6p21.3 Connective tissue disorder 470 "Ehlers-Danlos syndrome, progeroid form, 130070 (3)" "B4GALT7, XGALT1, XGPT1" 604327 5q35.2-q35.3 Connective tissue disorder 470 "Ehlers-Danlos syndrome, type I, 130000 (3)" COL1A1 120150 17q21.31-q22 Connective tissue disorder 470 "Ehlers-Danlos syndrome, type I, 130000 (3)" COL5A1 120215 9q34.2-q34.3 Connective tissue disorder 470 "Ehlers-Danlos syndrome, type I, 130000 (3)" COL5A2 120190 2q31 Connective tissue disorder 470 "Ehlers-Danlos syndrome, type II, 130010 (3)" COL5A1 120215 9q34.2-q34.3 Connective tissue disorder 470 "Ehlers-Danlos syndrome, type III, 130020 (3)" COL3A1 120180 2q31 Connective tissue disorder 470 "Ehlers-Danlos syndrome, type IV, 130050 (3)" COL3A1 120180 2q31 Connective tissue disorder 470 "Ehlers-Danlos syndrome, type VI, 225400 (3)" "PLOD, PLOD1" 153454 1p36.3-p36.2 Connective tissue disorder 470 "Ehlers-Danlos syndrome, type VII, 130060 (3)" COL1A1 120150 17q21.31-q22 Connective tissue disorder 470 "Ehlers-Danlos syndrome, type VIIA2, 130060 (3)" COL1A2 120160 7q22.1 Connective tissue disorder 470 "Ehlers-Danlos syndrome, type VIIC, 225410 (3)" "ADAMTS2, NPI" 604539 5q23 Connective tissue disorder 471 Elite sprint athletic performance (3) ACTN3 102574 11q13-q14 Muscular 472 Elliptocytosis-1 (3) "EPB41, EL1" 130500 1p36.2-p34 Hematological 472 Elliptocytosis-2 (3) SPTA1 182860 1q21 Hematological 472 Elliptocytosis-3 (3) SPTB 182870 14q22-q23.2 Hematological 472 "Elliptocytosis, Malaysian-Melanesian type (3)" "SLC4A1, AE1, EPB3" 109270 17q21-q22 Hematological 473 "Ellis-van Creveld syndrome, 225500 (3)" EVC 604831 4p16 Skeletal 473 "Ellis-van Creveld syndrome, 225500 (3)" "LBN, EVC2" 607261 4p16 Skeletal 474 "Emery-Dreifuss muscular dystrophy, 310300 (3)" "EMD, EDMD, STA" 300384 Xq28 Muscular 474 "Emery-Dreifuss muscular dystrophy, AD, 181350 (3)" "LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B" 150330 1q21.2 Muscular 474 "Emery-Dreifuss muscular dystrophy, AR, 604929 (3)" "LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B" 150330 1q21.2 Muscular 475 Emphysema (3) "PI, AAT" 107400 14q32.1 Respiratory 475 Emphysema-cirrhosis (3) "PI, AAT" 107400 14q32.1 Respiratory 476 "Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3)" "SERPINI1, PI12" 602445 3q26 Neurological 476 "Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency (3)" COX10 602125 17p12-p11.2 Neurological 477 "Enchondromatosis, Ollier type, 166000 (3)" "PTHR1, PTHR" 168468 3p22-p21.1 Cancer 479 Endometrial carcinoma (3) "CDH1, UVO" 192090 16q22.1 Cancer 479 Endometrial carcinoma (3) MSH3 600887 5q11-q12 Cancer 479 Endometrial carcinoma (3) "MSH6, GTBP, HNPCC5" 600678 2p16 Cancer 479 Endometrial carcinoma (3) "PTEN, MMAC1" 601728 10q23.31 Cancer 481 Endotoxin hyporesponsiveness (3) TLR4 603030 9q32-q33 Immunological 482 "Endplate acetylcholinesterase deficiency, 603034 (3)" "COLQ, EAD" 603033 3p25 Neurological 483 "Enhanced S-cone syndrome, 268100 (3)" "NR2E3, PNR, ESCS" 604485 15q23 Ophthamological 484 "Enlarged vestibular aqueduct, 603545 (3)" "SLC26A4, PDS, DFNB4" 605646 7q31 "Ear,Nose,Throat" 485 Enolase-beta deficiency (3) ENO3 131370 17pter-p12 Metabolic 487 "Enterokinase deficiency, 226200 (3)" "PRSS7, ENTK" 606635 21q21 Gastrointestinal 491 "Eosinophil peroxidase deficiency, 261500 (3)" EPX 131399 17q23.1 Hematological 492 "Epidermodysplasia verruciformis, 226400 (3)" "EVER1, EV1" 605828 17q25 Dermatological 492 "Epidermodysplasia verruciformis, 226400 (3)" "EVER2, EV2" 605829 17q25 Dermatological 493 "Epidermolysis bullosa dystrophica, AD, 131750 (3)" COL7A1 120120 3p21.3 Dermatological 493 "Epidermolysis bullosa dystrophica, AR, 226600 (3)" COL7A1 120120 3p21.3 Dermatological 493 "Epidermolysis bullosa, generalized atrophic benign, 226650 (3)" "COL17A1, BPAG2" 113811 10q24.3 Dermatological 493 "Epidermolysis bullosa, generalized atrophic benign, 226650 (3)" ITGB4 147557 17q11-qter Dermatological 493 "Epidermolysis bullosa, generalized atrophic benign, 226650 (3)" "LAMA3, LOCS" 600805 18q11.2 Dermatological 493 "Epidermolysis bullosa, generalized atrophic benign, 226650 (3)" LAMB3 150310 1q32 Dermatological 493 "Epidermolysis bullosa, generalized atrophic benign, 226650 (3)" "LAMC2, LAMNB2, LAMB2T" 150292 1q25-q31 Dermatological 493 "Epidermolysis bullosa, Herlitz junctional type, 226700 (3)" LAMB3 150310 1q32 Dermatological 493 "Epidermolysis bullosa, Herlitz junctional type, 226700 (3)" "LAMC2, LAMNB2, LAMB2T" 150292 1q25-q31 Dermatological 493 "Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)" "LAMA3, LOCS" 600805 18q11.2 Dermatological 493 "Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)" ITGB4 147557 17q11-qter Dermatological 493 "Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)" ITGA6 147556 Chr.2 Dermatological 493 "Epidermolysis bullosa, lethal acantholytic, 609638 (3)" "DSP, KPPS2, PPKS2" 125647 6p24 Dermatological 493 "Epidermolysis bullosa of hands and feet, 131800 (3)" ITGB4 147557 17q11-qter Dermatological 493 "Epidermolysis bullosa, pretibial, 131850 (3)" COL7A1 120120 3p21.3 Dermatological 493 "Epidermolysis bullosa pruriginosa, 604129 (3)" COL7A1 120120 3p21.3 Dermatological 493 "Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760, 131800 (3)" KRT14 148066 17q12-q21 Dermatological 493 "Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760, 131800 (3)" KRT5 148040 12q13 Dermatological 493 "Epidermolysis bullosa simplex, Ogna type, 131950 (3)" "PLEC1, PLTN, EBS1" 601282 8q24 Dermatological 493 "Epidermolysis bullosa simplex, recessive, 601001 (3)" KRT14 148066 17q12-q21 Dermatological 493 "Epidermolysis bullosa simplex with mottled pigmentation, 131960 (3)" KRT5 148040 12q13 Dermatological 494 "Epidermolytic hyperkeratosis, 113800 (3)" KRT10 148080 17q21-q22 Dermatological 494 "Epidermolytic hyperkeratosis, 113800 (3)" KRT1 139350 12q13 Dermatological 494 "Epidermolytic palmoplantar keratoderma, 144200 (3)" "KRT9, EPPK" 607606 17q12-q21 Dermatological 495 "Epilepsy, benign, neonatal, type 1, 121200 (3)" "KCNQ2, EBN1" 602235 20q13.3 Neurological 495 "Epilepsy, benign neonatal, type 2, 121201 (3)" "KCNQ3, EBN2, BFNC2" 602232 8q24 Neurological 495 "Epilepsy, childhood absence, 607681 (3)" "GABRG2, GEFSP3, CAE2, ECA2" 137164 5q31.1-q33.1 Neurological 495 "Epilepsy, childhood absence, 607682 (3)" "CLCN2, EGMA, ECA3, EGI3" 600570 3q26-qter Neurological 495 "Epilepsy, childhood absence, evolving to juvenile myoclonic epilepsy (3)" "JRK, JH8" 603210 8q24 Neurological 495 "Epilepsy, generalized idiopathic, 600669 (3)" "CACNB4, EJM" 601949 2q22-q23 Neurological 495 "Epilepsy, generalized, with febrile seizures plus, 604233 (3)" "GABRG2, GEFSP3, CAE2, ECA2" 137164 5q31.1-q33.1 Neurological 495 "Epilepsy, generalized, with febrile seizures plus, type 2, 604233 (3)" "SCN1A, GEFSP2, SMEI" 182389 2q24 Neurological 495 "Epilepsy, idopathic generalized, susceptibility to, 600669 (3)" ME2 154270 18q21 Neurological 495 "Epilepsy, juvenile absence, 607631 (3)" "CLCN2, EGMA, ECA3, EGI3" 600570 3q26-qter Neurological 495 "Epilepsy, juvenile myoclonic, 606904 (3)" "CACNB4, EJM" 601949 2q22-q23 Neurological 495 "Epilepsy, juvenile myoclonic, 606904 (3)" "CLCN2, EGMA, ECA3, EGI3" 600570 3q26-qter Neurological 495 "Epilepsy, juvenile myoclonic, 606904 (3)" "GABRA1, EJM" 137160 5q34-q35 Neurological 495 "Epilepsy, myoclonic, Lafora type, 254780 (3)" "EPM2A, MELF, EPM2" 607566 6q24 Neurological 495 "Epilepsy, myoclonic, Lafora type, 254780 (3)" "NHLRC1, EPM2A, EPM2B" 608072 6p22.3 Neurological 495 "Epilepsy, neonatal myoclonic, with suppression-burst pattern, 609304 (3)" "SLC25A22, GC1" 609302 11p15.5 Neurological 495 "Epilepsy, nocturnal frontal lobe, 1, 600513 (3)" "CHRNA4, ENFL1" 118504 20q13.2-q13.3 Neurological 495 "Epilepsy, nocturnal frontal lobe, 3, 605375 (3)" "CHRNB2, EFNL3" 118507 1q21 Neurological 495 "Epilepsy, partial, with auditory features, 600512 (3)" "LGI1, EPT, ETL1" 604619 10q24 Neurological 495 "Epilepsy, progressive myoclonic 1, 254800 (3)" "CSTB, STFB, EPM1" 601145 21q22.3 Neurological 495 "Epilepsy, progressive myoclonic 2B, 254780 (3)" "NHLRC1, EPM2A, EPM2B" 608072 6p22.3 Neurological 495 "Epilepsy, severe myoclonic, of infancy, 607208 (3)" "SCN1A, GEFSP2, SMEI" 182389 2q24 Neurological 495 "Epilepsy with grand mal seizures on awakening, 607628 (3)" "CLCN2, EGMA, ECA3, EGI3" 600570 3q26-qter Neurological 495 "Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)" SYN1 313440 Xp11.4-p11.2 Neurological 496 "Epiphyseal dysplasia, multiple 1, 132400 (3)" "COMP, EDM1, MED, PSACH" 600310 19p13.1 Bone 496 "Epiphyseal dysplasia, multiple, 226900 (3)" "SLC26A2, DTD, DTDST, D5S1708, EDM4" 606718 5q32-q33.1 Bone 496 "Epiphyseal dysplasia, multiple, 3, 600969 (3)" "COL9A3, EDM3, IDD" 120270 20q13.3 Bone 496 "Epiphyseal dysplasia, multiple, 5, 607078 (3)" "MATN3, EDM5, HOA" 602109 2p24-p23 Bone 496 "Epiphyseal dysplasia, multiple, COL9A1-related (3)" "COL9A1, MED" 120210 6q13 Bone 496 "Epiphyseal dysplasia, multiple, type 2, 600204 (3)" "COL9A2, EDM2" 120260 1p33-p32.2 Bone 496 "Epiphyseal dysplasia, multiple, with myopathy (3)" "COL9A3, EDM3, IDD" 120270 20q13.3 Bone 497 "Episodic ataxia/myokymia syndrome, 160120 (3)" "KCNA1, AEMK, EA1" 176260 12p13 Neurological 497 "Episodic ataxia, type 2, 108500 (3)" "CACNA1A, CACNL1A4, SCA6" 601011 19p13 Neurological 498 "Epithelial ovarian cancer, somatic, 604370 (3)" OPCML 600632 11q25 Cancer 500 "Epstein syndrome, 153650 (3)" "MYH9, MHA, FTNS, DFNA17" 160775 22q11.2 Hematological 502 "Erythermalgia, primary, 133020 (3)" "SCN9A, NENA, PN1" 603415 2q24 Neurological 504 "Erythremias, alpha- (3)" HBA1 141800 16pter-p13.3 Hematological 504 "Erythremias, beta- (3)" HBB 141900 11p15.5 Hematological 505 Erythrocytosis (3) HBA2 141850 16pter-p13.3 Hematological 505 "Erythrocytosis, familial, 133100 (3)" EPOR 133171 19p13.3-p13.2 Hematological 507 "Erythrokeratoderma, progressive symmetric, 602036 (3)" LOR 152445 1q21 Dermatological 507 "Erythrokeratodermia variabilis, 133200 (3)" "GJB3, CX31, DFNA2" 603324 1p35.1 Dermatological 507 "Erythrokeratodermia variabilis with erythema gyratum repens, 133200 (3)" "GJB4, CX30.3" 605425 1p35.1 Dermatological 508 "Esophageal cancer, 133239 (3)" "TGFBR2, HNPCC6" 190182 3p22 Cancer 508 "Esophageal carcinoma, somatic, 133239 (3)" RNF6 604242 13q12.11 Cancer 508 "Esophageal squamous cell carcinoma, 133239 (3)" "LZTS1, F37, FEZ1" 606551 8p22 Cancer 508 "Esophageal squamous cell carcinoma, 133239 (3)" "WWOX, FOR" 605131 16q23.3-q24.1 Cancer 509 Estrogen resistance (3) "ESR1, ESR" 133430 6q25.1 Endocrine 510 "Ethylmalonic encephalopathy, 602473 (3)" "ETHE1, HSCO, D83198" 608451 19q13.32 Metabolic 511 Ewing sarcoma (3) "EWSR1, EWS" 133450 22q12 Cancer 512 Exertional myoglobinuria due to deficiency of LDH-A (3) "LDHA, LDH1" 150000 11p15.4 Metabolic 514 "Exostoses, multiple, type 1, 133700 (3)" EXT1 608177 8q24.11-q24.13 Bone 514 "Exostoses, multiple, type 2, 133701 (3)" EXT2 608210 11p12-p11 Bone 515 "Exudative vitreoretinopathy, 133780 (3)" "FZD4, EVR1" 604579 11q14-q21 Ophthamological 515 "Exudative vitreoretinopathy, dominant, 133780 (3)" "LRP5, BMND1, LRP7, LR3, OPPG, VBCH2" 603506 11q13.4 Ophthamological 515 "Exudative vitreoretinopathy, recessive, 601813 (3)" "LRP5, BMND1, LRP7, LR3, OPPG, VBCH2" 603506 11q13.4 Ophthamological 515 "Exudative vitreoretinopathy, X-linked, 305390 (3)" "NDP, ND" 310600 Xp11.4 Ophthamological 516 "Eye anomalies, multiplex (3)" "PAX6, AN2, MGDA" 607108 11p13 Ophthamological 517 "Ezetimibe, nonresponse to (3)" NPC1L1 608010 7p13 Unclassified 518 Fabry disease (3) GLA 301500 Xq22 Metabolic 519 Facioscapulohumeral muscular dystrophy-1A (3) "FSHMD1A, FSHD1A" 158900 4q35 Muscular 520 Factor H and factor H-like 1 (3) "HF1, CFH, HUS" 134370 1q32 Hematological 520 "Factor V and factor VIII, combined deficiency of, 227300 (3)" MCFD2 607788 2p21-p16.3 Hematological 520 Factor VII deficiency (3) F7 227500 13q34 Hematological 520 Factor X deficiency (3) F10 227600 13q34 Hematological 520 "Factor XI deficiency, autosomal dominant (3)" F11 264900 4q35 Hematological 520 "Factor XI deficiency, autosomal recessive (3)" F11 264900 4q35 Hematological 520 Factor XII deficiency (3) "F12, HAF" 234000 5q33-qter Hematological 520 Factor XIIIA deficiency (3) "F13A1, F13A" 134570 6p25-p24 Hematological 520 Factor XIIIB deficiency (3) F13B 134580 1q31-q32.1 Hematological 522 "Familial Mediterranean fever, 249100 (3)" "MEFV, MEF, FMF" 608107 16p13 Immunological 523 "Fanconi anemia, complementation group A, 227650 (3)" "FANCA, FACA, FA1, FA, FAA" 607139 16q24.3 multiple 523 "Fanconi anemia, complementation group B, 300514 (3)" "FAAP95, FAAP90, FLJ34064, FANCB" 300515 Xp22.31 multiple 523 "Fanconi anemia, complementation group C (3)" "FANCC, FACC" 227645 9q22.3 multiple 523 "Fanconi anemia, complementation group D1, 605724 (3)" "BRCA2, FANCD1" 600185 13q12.3 multiple 523 "Fanconi anemia, complementation group D2 (3)" "FANCD2, FANCD, FACD, FAD" 227646 3p25.3 multiple 523 "Fanconi anemia, complementation group E (3)" "FANCE, FACE" 600901 6p22-p21 multiple 523 "Fanconi anemia, complementation group F (3)" FANCF 603467 11p15 multiple 523 "Fanconi anemia, complementation group G (3)" "XRCC9, FANCG" 602956 9p13 multiple 523 "Fanconi anemia, complementation group J, 609054 (3)" "BRIP1, BACH1, FANCJ" 605882 17q22 multiple 523 "Fanconi anemia, complementation group L (3)" "PHF9, FANCL" 608111 2p16.1 multiple 523 "Fanconi anemia, complementation group M (3)" "FANCM, KIAA1596" 609644 14q21.3 multiple 524 "Fanconi-Bickel syndrome, 227810 (3)" "SLC2A2, GLUT2" 138160 3q26.1-q26.3 Metabolic 526 Farber lipogranulomatosis (3) "ASAH, AC" 228000 8p22-p21.3 Metabolic 527 "Fatty liver, acute, of pregnancy (3)" "HADHA, MTPA" 600890 2p23 Metabolic 528 Favism (3) "G6PD, G6PD1" 305900 Xq28 Metabolic 530 "Fechtner syndrome, 153640 (3)" "MYH9, MHA, FTNS, DFNA17" 160775 22q11.2 multiple 531 "Feingold syndrome, 164280 (3)" "MYCN, NMYC, ODED, MODED" 164840 2p24.1 multiple 532 "Fertile eunuch syndrome, 228300 (3)" "GNRHR, LHRHR" 138850 4q21.2 Endocrine 535 "Fibrocalculous pancreatic diabetes, susceptibility to (3)" "SPINK1, PSTI, PCTT, TATI" 167790 5q32 Gastrointestinal 537 "Fibromatosis, gingival, 135300 (3)" "SOS1, GINGF, GF1, HGF" 182530 2p22-p21 Connective tissue disorder 537 "Fibromatosis, juvenile hyaline, 228600 (3)" "ANTXR2, CMG2, JHF, ISH" 608041 4q21 Connective tissue disorder 538 "Fibrosis of extraocular muscles, congenital, 1, 135700 (3)" "KIF21A, KIAA1708, FEOM1, CFEOM1" 608283 12q12 Ophthamological 538 "Fibrosis of extraocular muscles, congenital, 2, 602078 (3)" "PHOX2A, ARIX, CFEOM2" 602753 11q13.3-q13.4 Ophthamological 539 "Fibular hypoplasia and complex brachydactyly, 228900 (3)" "GDF5, CDMP1" 601146 20q11.2 Skeletal 540 "Fish-eye disease, 136120 (3)" LCAT 606967 16q22.1 Metabolic 541 "Fish-odor syndrome, 602079 (3)" FMO3 136132 1q23-q25 Metabolic 542 Fitzgerald factor deficiency (3) KNG 228960 3q27 Hematological 544 "Fluorouracil toxicity, sensitivity to (3)" "DPYD, DPD" 274270 1p22 Metabolic 545 "Focal cortical dysplasia, Taylor balloon cell type, 607341 (3)" "TSC1, LAM" 605284 9q34 Developmental 546 "Follicle-stimulating hormone deficiency, isolated, 229070 (3)" FSHB 136530 11p13 Endocrine 547 Forebrain defects (3) TDGF1 187395 3p23-p21 Neurological 548 "Foveal hypoplasia, isolated, 136520 (3)" "PAX6, AN2, MGDA" 607108 11p13 Ophthamological 549 "Foveomacular dystrophy, adult-onset, with choroidal neovascularization, 608161 (3)" "RDS, RP7, PRPH2, PRPH, AVMD, AOFMD" 179605 6p21.1-cen Ophthamological 550 Fragile X syndrome (3) "FMR1, FRAXA" 309550 Xq27.3 Neurological 551 "Fraser syndrome, 219000 (3)" FRAS1 607830 4q21 multiple 551 "Fraser syndrome, 219000 (3)" FREM2 608945 13q13.3 multiple 552 "Frasier syndrome, 136680 (3)" WT1 607102 11p13 multiple 553 "Friedreich ataxia, 229300 (3)" "FRDA, FARR" 606829 9q13 Neurological 553 "Friedreich ataxia with retained reflexes, 229300 (3)" "FRDA, FARR" 606829 9q13 Neurological 554 "Frontometaphyseal dysplasia, 304120 (3)" "FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS" 300017 Xq28 Skeletal 555 Fructose-bisphosphatase deficiency (3) FBP1 229700 9q22.2-q22.3 Metabolic 556 Fructose intolerance (3) ALDOB 229600 9q22.3 Metabolic 557 Fructosuria (3) KHK 229800 2p23.3-p23.2 Metabolic 558 "Fuchs endothelial corneal dystrophy, 136800 (3)" "COL8A2, FECD, PPCD2" 120252 1p34.3-p32.3 Ophthamological 559 Fucosidosis (3) FUCA1 230000 1p34 Metabolic 560 Fucosyltransferase-6 deficiency (3) FUT6 136836 19p13.3 Metabolic 561 "Fumarase deficiency, 606812 (3)" FH 136850 1q42.1 Metabolic 562 "Fundus albipunctatus, 136880 (3)" RDH5 601617 12q13-q14 Ophthamological 562 "Fundus albipunctatus, 136880 (3)" RLBP1 180090 15q26 Ophthamological 562 "Fundus flavimaculatus, 248200 (3)" "ABCA4, ABCR, STGD1, FFM, RP19" 601691 1p21-p13 Ophthamological 563 G6PD deficiency (3) "G6PD, G6PD1" 305900 Xq28 Metabolic 564 GABA-transaminase deficiency (3) "ABAT, GABAT" 137150 16p13.3 Metabolic 565 "Galactokinase deficiency with cataracts, 230200 (3)" GALK1 604313 17q24 Metabolic 566 "Galactose epimerase deficiency, 230350 (3)" GALE 606953 1p36-p35 Metabolic 567 "Galactosemia, 230400 (3)" GALT 606999 9p13 Metabolic 568 Galactosialidosis (3) "PPGB, GSL, NGBE, GLB2, CTSA" 256540 20q13.1 Metabolic 570 GAMT deficiency (3) GAMT 601240 19p13.3 Metabolic 571 Gardner syndrome (3) "APC, GS, FPC" 175100 5q21-q22 Cancer 572 "Gastric cancer, 137215 (3)" "APC, GS, FPC" 175100 5q21-q22 Cancer 572 "Gastric cancer, 137215 (3)" "IRF1, MAR" 147575 5q31.1 Cancer 572 "Gastric cancer, familial diffuse, 137215 (3)" "CDH1, UVO" 192090 16q22.1 Cancer 572 "Gastric cancer risk after H. pylori infection, 137215 (3)" IL1B 147720 2q14 Cancer 572 "Gastric cancer risk after H. pylori infection, 137215 (3)" IL1RN 147679 2q14.2 Cancer 572 "Gastric cancer, somatic, 137215 (3)" "CASP10, MCH4, ALPS2" 601762 2q33-q34 Cancer 572 "Gastric cancer, somatic, 137215 (3)" "ERBB2, NGL, NEU, HER2" 164870 17q21.1 Cancer 572 "Gastric cancer, somatic, 137215 (3)" "FGFR2, BEK, CFD1, JWS" 176943 10q26 Cancer 572 "Gastric cancer, somatic, 137215 (3)" "KLF6, COPEB, BCD1, ZF9" 602053 10p15 Cancer 572 "Gastric cancer, somatic, 137215 (3)" MUTYH 604933 1p34.3-p32.1 Cancer 574 "Gastrointestinal stromal tumor, somatic, 606764 (3)" "KIT, PBT" 164920 4q12 Cancer 574 "Gastrointestinal stromal tumor, somatic, 606764 (3)" PDGFRA 173490 4q12 Cancer 575 "Gaucher disease, 230800 (3)" GBA 606463 1q21 Metabolic 575 "Gaucher disease, variant form (3)" "PSAP, SAP1" 176801 10q22.1 Metabolic 575 "Gaucher disease with cardiovascular calcification, 231005 (3)" GBA 606463 1q21 Metabolic 576 "Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)" "ROBO3, RBIG1, RIG1, HGPPS" 608630 11q23-q25 Neurological 578 "Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)" "KCNMA1, SLO" 600150 10q22.3 Neurological 578 "Generalized epilepsy with febrile seizures plus, 604233 (3)" "SCN1B, GEFSP1" 600235 19q13.1 Neurological 580 Germ cell tumor (3) BCL10 603517 1p22 Cancer 580 "Germ cell tumors, 273300 (3)" "KIT, PBT" 164920 4q12 Cancer 581 "Gerstmann-Straussler disease, 137440 (3)" "PRNP, PRIP" 176640 20pter-p12 Neurological 582 "Giant axonal neuropathy-1, 256850 (3)" "GAN, GAN1" 605379 16q24.1 Neurological 583 Giant-cell fibroblastoma (3) "PDGFB, SIS" 190040 22q12.3-q13.1 Cancer 2584 "Giant cell hepatitis, neonatal, 231100 (3)" CYP7B1 603711 8q21.3 Gastrointestinal 584 "Giant platelet disorder, isolated (3)" GP1BB 138720 22q11.2 Hematological 586 "Gilbert syndrome, 143500 (3)" "UGT1A1, UGT1, GNT1" 191740 2q37 Metabolic 587 "Gitelman syndrome, 263800 (3)" "SLC12A3, NCCT, TSC" 600968 16q13 Renal 588 "Glanzmann thrombasthenia, type A, 273800 (3)" "ITGA2B, GP2B, CD41B" 607759 17q21.32 Hematological 588 "Glanzmann thrombasthenia, type B (3)" "ITGB3, GP3A" 173470 17q21.32 Hematological 589 "Glaucoma 1A, primary open angle, juvenile-onset, 137750 (3)" "MYOC, TIGR, GLC1A, JOAG, GPOA" 601652 1q24.3-q25.2 Ophthamological 589 "Glaucoma 1A, primary open angle, recessive (3)" "MYOC, TIGR, GLC1A, JOAG, GPOA" 601652 1q24.3-q25.2 Ophthamological 589 "Glaucoma 1E, primary open angle, adult-onset, 137760 (3)" "OPTN, GLC1E, FIP2, HYPL, NRP" 602432 10p15-p14 Ophthamological 589 "Glaucoma 3A, primary congenital, 231300 (3)" "CYP1B1, GLC3A" 601771 2p22-p21 Ophthamological 589 "Glaucoma, early-onset, digenic (3)" "CYP1B1, GLC3A" 601771 2p22-p21 Ophthamological 589 "Glaucoma, early-onset, digenic (3)" "MYOC, TIGR, GLC1A, JOAG, GPOA" 601652 1q24.3-q25.2 Ophthamological 589 "Glaucoma, normal tension, susceptibility to, 606657 (3)" "OPA1, NTG, NPG" 605290 3q28-q29 Ophthamological 589 "Glaucoma, normal tension, susceptibility to, 606657 (3)" "OPTN, GLC1E, FIP2, HYPL, NRP" 602432 10p15-p14 Ophthamological 589 "Glaucoma, primary open angle, adult-onset, 137760 (3)" "CYP1B1, GLC3A" 601771 2p22-p21 Ophthamological 589 "Glaucoma, primary open angle, juvenile-onset, 137750 (3)" "CYP1B1, GLC3A" 601771 2p22-p21 Ophthamological 590 "Glioblastoma, early-onset, 137800 (3)" "MSH2, COCA1, FCC1, HNPCC1" 609309 2p22-p21 Cancer 590 "Glioblastoma multiforme, somatic, 137800 (3)" DMBT1 601969 10q25.3-q26.1 Cancer 590 "Glioblastoma, somatic, 137800 (3)" "ERBB2, NGL, NEU, HER2" 164870 17q21.1 Cancer 590 "Glioblastoma, somatic, 137800 (3)" "LGI1, EPT, ETL1" 604619 10q24 Cancer 590 "Glioblastoma, susceptibility to, 137800 (3)" "PPARG, PPARG1, PPARG2" 601487 3p25 Cancer 594 "Glomerulocystic kidney disease, hypoplastic, 137920 (3)" "TCF2, HNF2" 189907 17cen-q21.3 Renal 596 "Glomerulosclerosis, focal segmental, 1, 603278 (3)" "ACTN4, FSGS1, FSGS" 604638 19q13 Renal 596 "Glomerulosclerosis, focal segmental, 2, 603965 (3)" "TRPC6, TRP6, FSGS2" 603652 11q21-q22 Renal 596 "Glomerulosclerosis, focal segmental, 3, 607832 (3)" "CD2AP, CMS" 604241 Chr.6 Renal 597 "Glomuvenous malformations, 138000 (3)" "GLML, GVM, VMGLOM" 601749 1p22-p21 Cardiovascular 598 "Glucocorticoid deficiency 2, 607398 (3)" "MRAP, FALP, C21orf61" 609196 21q22.1 Endocrine 598 "Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)" MC2R 607397 18p11.2 Endocrine 599 "Glucose/galactose malabsorption, 606824 (3)" "SLC5A1, SGLT1" 182380 22q13.1 Metabolic 600 "Glucose transport defect, blood-brain barrier, 606777 (3)" "SLC2A1, GLUT1" 138140 1p35-p31.3 Metabolic 601 "Glucosidase I deficiency, 606056 (3)" GCS1 601336 2p13-p12 Metabolic 602 "Glutamate formiminotransferase deficiency, 229100 (3)" FTCD 606806 21q22.3 Metabolic 603 "Glutaricaciduria, type I, 231670 (3)" GCDH 608801 19p13.2 Metabolic 603 "Glutaricaciduria, type IIA, 231680 (3)" "ETFA, GA2, MADD" 608053 15q23-q25 Metabolic 603 "Glutaricaciduria, type IIB, 231680 (3)" "ETFB, MADD" 130410 19q13.3 Metabolic 603 "Glutaricaciduria, type IIC, 231680 (3)" "ETFDH, MADD" 231675 4q32-qter Metabolic 604 "Glutathione synthetase deficiency, 266130 (3)" "GSS, GSHS" 601002 20q11.2 Metabolic 607 "Glycerol kinase deficiency, 307030 (3)" GK 300474 Xp21.3-p21.2 Metabolic 608 "Glycine encephalopathy, 605899 (3)" "AMT, NKH, GCE" 238310 3p21.2-p21.1 Metabolic 608 "Glycine encephalopathy, 605899 (3)" "GCSH, NKH" 238330 16q24 Metabolic 608 "Glycine encephalopathy, 605899 (3)" "GLDC, HYGN1, GCSP, GCE, NKH" 238300 9p22 Metabolic 608 "Glycine N-methyltransferase deficiency, 606664 (3)" GNMT 606628 6p12 Metabolic 609 "Glycogenosis, hepatic, autosomal (3)" PHKG2 172471 16p12.1-p11.2 Metabolic 609 "Glycogenosis, X-linked hepatic, type I (3)" "PHKA2, PHK" 306000 Xp22.2-p22.1 Metabolic 609 "Glycogenosis, X-linked hepatic, type II (3)" "PHKA2, PHK" 306000 Xp22.2-p22.1 Metabolic 610 Glycogen storage disease I (3) "G6PC, G6PT" 232200 17q21 Metabolic 610 "Glycogen storage disease Ib, 232220 (3)" G6PT1 602671 11q23 Metabolic 610 "Glycogen storage disease Ic, 232240 (3)" G6PT1 602671 11q23 Metabolic 610 "Glycogen storage disease II, 232300 (3)" GAA 606800 17q25.2-q25.3 Metabolic 610 "Glycogen storage disease IIb, 300257 (3)" "LAMP2, LAMPB" 309060 Xq24 Metabolic 610 Glycogen storage disease IIIa (3) "AGL, GDE" 232400 1p21 Metabolic 610 Glycogen storage disease IIIb (3) "AGL, GDE" 232400 1p21 Metabolic 610 "Glycogen storage disease IV, 232500 (3)" GBE1 607839 3p12 Metabolic 610 "Glycogen storage disease, type 0, 240600 (3)" GYS2 138571 12p12.2 Metabolic 610 Glycogen storage disease VI (3) PYGL 232700 14q21-q22 Metabolic 610 Glycogen storage disease VII (3) PFKM 232800 12q13.3 Metabolic 614 GM1-gangliosidosis (3) GLB1 230500 3p21.33 Metabolic 614 "GM2-gangliosidosis, AB variant (3)" GM2A 272750 5q31.3-q33.1 Metabolic 614 "GM2-gangliosidosis, several forms, 272800 (3)" "HEXA, TSD" 606869 15q23-q24 Metabolic 615 "Gnthodiaphyseal dysplasia, 166260 (3)" "TMEM16E, GDD1" 608662 11p14.3 Bone 617 "Goiter, congenital (3)" "TPO, TPX" 606765 2p25 Endocrine 617 "Goiter, nonendemic, simple (3)" "TG, AITD3" 188450 8q24.2-q24.3 Endocrine 618 "Goldberg-Shprintzen megacolon syndrome, 609460 (3)" KIAA1279 609367 10q22.1 multiple 619 "Gonadal dysgenesis, 46XY, partial, with minifascicular neuropathy, 607080 (3)" DHH 605423 12q13.1 Endocrine 619 "Gonadal dysgenesis, XY type (3)" "SRY, TDF" 480000 Yp11.3 Endocrine 622 "GRACILE syndrome, 603358 (3)" "BCS1L, FLNMS, GRACILE" 603647 2q33 Metabolic 623 "Graft-versus-host disease, protection against (3)" "IL10, CSIF" 124092 1q31-q32 Immunological 624 "Graves disease, susceptibility to, 275000 (3)" CTLA4 123890 2q33 Endocrine 624 "Graves disease, susceptibility to, 3, 275000 (3)" "GC, DBP" 139200 4q12 Endocrine 625 "Greenberg dysplasia, 215140 (3)" "LBR, PHA" 600024 1q42.1 Skeletal 626 "Greig cephalopolysyndactyly syndrome, 175700 (3)" "GLI3, PAPA, PAPB, ACLS" 165240 7p13 Skeletal 627 "Griscelli syndrome, type 1, 214450 (3)" "MYO5A, MYH12, GS1" 160777 15q21 Dermatological 627 "Griscelli syndrome, type 2, 607624 (3)" "RAB27A, RAM, GS2" 603868 15q21 Dermatological 627 "Griscelli syndrome, type 3, 609227 (3)" MLPH 606526 2q37 Dermatological 628 Growth hormone deficient dwarfism (3) GHRHR 139191 7p15-p14 Endocrine 628 "Growth hormone insensitivity with immunodeficiency, 245590 (3)" STAT5B 604260 17q11.2 Endocrine 2628 "Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3)" IGF1 147440 12q22-q24.1 Developmental 630 "Guttmacher syndrome, 176305 (3)" "HOXA13, HOX1J" 142959 7p15-p14.2 multiple 632 "Gyrate atrophy of choroid and retina with ornithinemia, B6 responsive or unresponsive (3)" OAT 258870 10q26 Metabolic 633 "Hailey-Hailey disease, 169600 (3)" "ATP2C1, BCPM, HHD" 604384 3q21-q24 Dermatological 634 "Haim-Munk syndrome, 245010 (3)" "CTSC, CPPI, PALS, PLS, HMS" 602365 11q14.1-q14.3 multiple 638 "Hand-foot-uterus syndrome, 140000 (3)" "HOXA13, HOX1J" 142959 7p15-p14.2 multiple 639 Harderoporphyrinuria (3) CPO 121300 3q12 Metabolic 640 "HARP syndrome, 607236 (3)" "PANK2, NBIA1, PKAN, HARP" 606157 20p13-p12.3 Metabolic 641 "Hartnup disorder, 234500 (3)" "SLC6A19, HND" 608893 5p15 Metabolic 643 "Hay-Wells syndrome, 106260 (3)" "TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS" 603273 3q27 multiple 644 "HDL deficiency, familial, 604091 (3)" "ABCA1, ABC1, HDLDT1, TGD" 600046 9q22-q31 Metabolic 644 "HDL response to hormone replacement, augmented (3)" "ESR1, ESR" 133430 6q25.1 Metabolic 646 "Hearing loss, low-frequency sensorineural, 600965 (3)" "WFS1, WFRS, WFS, DFNA6" 606201 4p16.1 "Ear,Nose,Throat" 647 "Heart block, nonprogressive, 113900 (3)" "SCN5A, LQT3, IVF, HB1, SSS1" 600163 3p21 Cardiovascular 647 "Heart block, progressive, type I, 113900 (3)" "SCN5A, LQT3, IVF, HB1, SSS1" 600163 3p21 Cardiovascular 648 Heinz body anemia (3) HBA2 141850 16pter-p13.3 Hematological 648 "Heinz body anemias, alpha- (3)" HBA1 141800 16pter-p13.3 Hematological 648 "Heinz body anemias, beta- (3)" HBB 141900 11p15.5 Hematological 649 "HELLP syndrome, maternal, of pregnancy (3)" "HADHA, MTPA" 600890 2p23 Metabolic 650 "Hemangioblastoma, cerebellar, somatic (3)" VHL 608537 3p26-p25 Cancer 651 "Hemangioma, capillary infantile, somatic, 602089 (3)" "FLT4, VEGFR3, PCL" 136352 5q35.3 Cancer 651 "Hemangioma, capillary infantile, somatic, 602089 (3)" KDR 191306 4q12 Cancer 652 "Hematopoiesis, cyclic, 162800 (3)" ELA2 130130 19p13.3 Hematological 653 "Hematuria, familial benign (3)" COL4A4 120131 2q36-q37 Renal 654 Heme oxygenase-1 deficiency (3) HMOX1 141250 22q12 Metabolic 656 "Hemiplegic migraine, familial, 141500 (3)" "CACNA1A, CACNL1A4, SCA6" 601011 19p13 Neurological 657 Hemochromatosis (3) "HFE, HLA-H, HFE1" 235200 6p21.3 Metabolic 657 "Hemochromatosis, juvenile, 602390 (3)" "HAMP, LEAP1, HEPC, HFE2" 606464 19q13 Metabolic 657 "Hemochromatosis, juvenile, digenic, 602390 (3)" "HAMP, LEAP1, HEPC, HFE2" 606464 19q13 Metabolic 657 "Hemochromatosis, type 2A, 602390 (3)" "HJV, HFE2A" 608374 1q21 Metabolic 657 "Hemochromatosis, type 3, 604250 (3)" "TFR2, HFE3" 604720 7q22 Metabolic 657 "Hemochromatosis, type 4, 606069 (3)" "SLC40A1, SLC11A3, FPN1, IREG1, HFE4" 604653 2q32 Metabolic 659 Hemoglobin H disease (3) HBA2 141850 16pter-p13.3 Hematological 660 Hemolytic anemia due to adenylate kinase deficiency (3) AK1 103000 9q34.1 Hematological 660 Hemolytic anemia due to band 3 defect defect (3) "SLC4A1, AE1, EPB3" 109270 17q21-q22 Hematological 660 Hemolytic anemia due to bisphosphoglycerate mutase deficiency (3) BPGM 222800 7q31-q34 Hematological 660 Hemolytic anemia due to G6PD deficiency (3) "G6PD, G6PD1" 305900 Xq28 Hematological 660 "Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3)" "GCLC, GLCLC" 606857 6p12 Hematological 660 Hemolytic anemia due to glucosephosphate isomerase deficiency (3) GPI 172400 19q13.1 Hematological 660 "Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3)" "GSS, GSHS" 601002 20q11.2 Hematological 660 Hemolytic anemia due to hexokinase deficiency (3) HK1 142600 10q22 Hematological 660 Hemolytic anemia due to PGK deficiency (3) "PGK1, PGKA" 311800 Xq13 Hematological 660 Hemolytic anemia due to triosephosphate isomerase deficiency (3) TPI1 190450 12p13 Hematological 661 "Hemolytic-uremic syndrome, 235400 (3)" "HF1, CFH, HUS" 134370 1q32 Hematological 662 "Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)" "PRF1, HPLH2" 170280 10q22 Hematological 662 "Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)" "UNC13D, MUNC13-4, HPLH3, HLH3, FHL3" 608897 17q25.1 Hematological 663 Hemophilia A (3) "F8, F8C, HEMA" 306700 Xq28 Hematological 663 Hemophilia B (3) "F9, HEMB" 306900 Xq27.1-q27.2 Hematological 664 Hemorrhagic diathesis due to \`antithrombin\' Pittsburgh (3) "PI, AAT" 107400 14q32.1 Hematological 664 Hemorrhagic diathesis due to factor V deficiency (3) F5 227400 1q23 Hematological 665 "Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)" CP 117700 3q23-q24 Hematological 668 "Hepatic adenoma, 142330 (3)" "TCF1, HNF1A, MODY3" 142410 12q24.2 Cancer 666 "Hepatic failure, early onset, and neurologic disorder (3)" "SCOD1, SCO1" 603644 17p13-p12 Gastrointestinal 4666 Hepatic lipase deficiency (3) LIPC 151670 15q21-q23 Metabolic 668 Hepatoblastoma (3) CTNNB1 116806 3p22-p21.3 Cancer 668 "Hepatocellular cancer, 114550 (3)" "PDGFRL, PDGRL, PRLTS" 604584 8p22-p21.3 Cancer 668 "Hepatocellular carcinoma, 114550 (3)" "AXIN1, AXIN" 603816 16p13.3 Cancer 668 "Hepatocellular carcinoma, 114550 (3)" CTNNB1 116806 3p22-p21.3 Cancer 668 "Hepatocellular carcinoma, 114550 (3)" "TP53, P53, LFS1" 191170 17p13.1 Cancer 668 Hepatocellular carcinoma (3) "IGF2R, MPRI" 147280 6q26 Cancer 668 "Hepatocellular carcinoma, childhood type, 114550 (3)" MET 164860 7q31 Cancer 668 "Hepatocellular carcinoma, somatic, 114550 (3)" "CASP8, MCH5" 601763 2q33-q34 Cancer 669 "Hereditary hemorrhagic telangiectasia-1, 187300 (3)" "ENG, END, HHT1, ORW" 131195 9q34.1 Cardiovascular 669 "Hereditary hemorrhagic telangiectasia-2, 600376 (3)" "ACVRL1, ACVRLK1, ALK1, HHT2" 601284 12q11-q14 Cardiovascular 2669 Hereditary persistence of alpha-fetoprotein (3) "AFP, HPAFP" 104150 4q11-q13 Hematological 670 "Hermansky-Pudlak syndrome, 203300 (3)" HPS1 604982 10q23.1 multiple 670 "Hermansky-Pudlak syndrome, 203300 (3)" HPS3 606118 3q24 multiple 670 "Hermansky-Pudlak syndrome, 203300 (3)" HPS4 606682 22q11.2-q12.2 multiple 670 "Hermansky-pudlak syndrome, 203300 (3)" "HPS5, RU2, KIAA1017" 607521 11p15-p13 multiple 670 "Hermansky-Pudlak syndrome, 203300 (3)" "HPS6, RU" 607522 10q24.32 multiple 670 "Hermansky-Pudlak syndrome, 608233 (3)" "AP3B1, ADTB3A, HPS2" 603401 5q14.1 multiple 670 "Hermansky-Pudlak syndrome 7, 203300 (3)" "DTNBP1, HPS7" 607145 6p22.3 multiple 675 "Heterotaxy, visceral, 605376 (3)" "CFC1, CRYPTIC, HTX2" 605194 2q21.1 multiple 675 "Heterotaxy, X-linked visceral, 306955 (3)" "ZIC3, HTX1, HTX" 300265 Xq26.2 multiple 676 "Heterotopia, periventricular, 300049 (3)" "FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS" 300017 Xq28 Neurological 676 "Heterotopia, periventricular, ED variant, 300537 (3)" "FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS" 300017 Xq28 Neurological 676 "Heterotopia, periventricular nodular, with frontometaphyseal dysplasia, 300049 (3)" "FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS" 300017 Xq28 Neurological 677 "Hex A pseudodeficiency, 272800 (3)" "HEXA, TSD" 606869 15q23-q24 Metabolic 679 High-molecular-weight kininogen deficiency (3) KNG 228960 3q27 Hematological 681 "Hirschsprung disease, 142623 (3)" EDN3 131242 20q13.2-q13.3 Gastrointestinal 681 "Hirschsprung disease, 142623 (3)" GDNF 600837 5p13.1-p12 Gastrointestinal 681 "Hirschsprung disease, 142623 (3)" "NRTN, NTN" 602018 19p13.3 Gastrointestinal 681 "Hirschsprung disease, 142623 (3)" "RET, MEN2A" 164761 10q11.2 Gastrointestinal 681 "Hirschsprung disease-2, 600155 (3)" "EDNRB, HSCR2, ABCDS" 131244 13q22 Gastrointestinal 681 "Hirschsprung disease, cardiac defects, and autonomic dysfunction (3)" ECE1 600423 1p36.1 Gastrointestinal 681 "Hirschsprung disease, short-segment, 142623 (3)" "PMX2B, NBPHOX, PHOX2B" 603851 4p12 Gastrointestinal 682 "Histidinemia, 235800 (3)" "HAL, HSTD" 609457 12q22-q23 Metabolic 683 Histiocytoma (3) "TP53, P53, LFS1" 191170 17p13.1 Cancer 684 "HIV-1 disease, delayed progression of (3)" "CCL5, SCYA5, D17S136E, TCP228" 187011 17q11.2-q12 Immunological 684 "HIV-1 disease, rapid progression of (3)" "CCL5, SCYA5, D17S136E, TCP228" 187011 17q11.2-q12 Immunological 684 "HIV-1, susceptibility to (3)" "IL10, CSIF" 124092 1q31-q32 Immunological 684 "HIV infection, susceptibility/resistance to (3)" "CMKBR2, CCR2" 601267 3p21 Immunological 684 "HIV infection, susceptibility/resistance to (3)" "CMKBR5, CCCKR5" 601373 3p21 Immunological 686 HMG-CoA lyase deficiency (3) HMGCL 246450 1pter-p33 Metabolic 686 "HMG-CoA synthase-2 deficiency, 605911 (3)" HMGCS2 600234 1p13-p12 Metabolic 688 "Holocarboxylase synthetase deficiency, 253270 (3)" "HLCS, HCS" 609018 21q22.1 Metabolic 689 "Holoprosencephaly-2, 157170 (3)" "SIX3, HPE2" 603714 2p21 Developmental 689 "Holoprosencephaly-3, 142945 (3)" "SHH, HPE3, HLP3, SMMCI" 600725 7q36 Developmental 689 "Holoprosencephaly-4, 142946 (3)" "TGIF, HPE4" 602630 18p11.3 Developmental 689 "Holoprosencephaly-5, 609637 (3)" "ZIC2, HPE5" 603073 13q32 Developmental 689 Holoprosencephaly-7 (3) "PTCH, NBCCS, BCNS, HPE7" 601309 9q22.3 Developmental 696 "Holt-Oram syndrome, 142900 (3)" TBX5 601620 12q24.1 Developmental 697 "Homocysteine, total plasma, elevated (3)" CTH 607657 1p31.1 Metabolic 698 "Homocystinuria, B6-responsive and nonresponsive types (3)" CBS 236200 21q22.3 Metabolic 698 "Homocystinuria due to MTHFR deficiency, 236250 (3)" MTHFR 607093 1p36.3 Metabolic 699 "Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)" MTRR 602568 5p15.3-p15.2 Metabolic 701 "Homozygous 2p16 deletion syndrome, 606407 (3)" "SLC3A1, ATR1, D2H, NBAT" 104614 2p16.3 multiple 702 "Hoyeraal-Hreidarsson syndrome, 300240 (3)" "DKC1, DKC" 300126 Xq28 multiple 703 "HPFH, deletion type (3)" HBB 141900 11p15.5 Hematological 703 "HPFH, nondeletion type A (3)" HBG1 142200 11p15.5 Hematological 703 "HPFH, nondeletion type G (3)" HBG2 142250 11p15.5 Hematological 704 "HPRT-related gout, 300323 (3)" "HPRT1, HPRT" 308000 Xq26-q27.2 Metabolic 705 "H. pylori infection, susceptibility to, 600263 (3)" IFNGR1 107470 6q23-q24 Immunological 708 Huntington disease (3) "HD, IT15" 143100 4p16.3 Neurological 708 "Huntington disease-like 1, 603218 (3)" "PRNP, PRIP" 176640 20pter-p12 Neurological 708 "Huntington disease-like 2, 606438 (3)" "JPH3, JP3, HDL2" 605268 16q24.3 Neurological 708 "Huntington disease-like-4, 607136 (3)" "TBP, SCA17" 600075 6q27 Neurological 710 "Hyalinosis, infantile systemic, 236490 (3)" "ANTXR2, CMG2, JHF, ISH" 608041 4q21 multiple 712 "Hydrocephalus due to aqueductal stenosis, 307000 (3)" "L1CAM, CAML1, HSAS1" 308840 Xq28 Neurological 712 "Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3)" "L1CAM, CAML1, HSAS1" 308840 Xq28 Neurological 712 "Hydrocephalus with Hirschsprung disease and cleft palate, 142623 (3)" "L1CAM, CAML1, HSAS1" 308840 Xq28 Neurological 716 "Hyperalphalipoproteinemia, 143470 (3)" CETP 118470 16q21 Metabolic 717 "Hyperammonemia with hypoornithinemia, hypocitrullinemia, hypoargininemia, and hypoprolinemia (3)" "PYCS, GSAS" 138250 10q24.3 Metabolic 718 "Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (3)" "CYP21A2, CYP21, CA21H" 201910 6p21.3 Endocrine 719 "Hyperapobetalipoproteinemia, susceptibility to (3)" "PPARA, PPAR" 170998 22q12-q13.1 Metabolic 720 "Hyperbilirubinemia, familial transcient neonatal, 237900 (3)" "UGT1A1, UGT1, GNT1" 191740 2q37 Gastrointestinal 721 "Hypercalciuria, absorptive, susceptibility to, 143870 (3)" "SAC, HCA2" 605205 1q24 Renal 723 "Hypercholanemia, familial, 607748 (3)" BAAT 602938 9q22.3 Gastrointestinal 723 "Hypercholanemia, familial, 607748 (3)" EPHX1 132810 1q42.1 Gastrointestinal 723 "Hypercholanemia, familial, 607748 (3)" "TJP2, ZO2" 607709 9q12-q13 Gastrointestinal 724 "Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)" "APOB, FLDB" 107730 2p24 Metabolic 724 "Hypercholesterolemia, familial, 143890 (3)" "LDLR, FHC, FH" 606945 19p13.2 Metabolic 724 "Hypercholesterolemia, familial, 3, 603776 (3)" "PCSK9, NARC1, HCHOLA3, FH3" 607786 1p34.1-p32 Metabolic 724 "Hypercholesterolemia, familial, autosomal recessive, 603813 (3)" "ARH, FHCB2, FHCB1" 605747 1p36-p35 Metabolic 724 "Hypercholesterolemia, familial, due to LDLR defect, modifier of, 143890 (3)" EPHX2 132811 8p21-p12 Metabolic 724 "Hypercholesterolemia, familial, modification of, 143890 (3)" APOA2 107670 1q21-q23 Metabolic 724 "Hypercholesterolemia, susceptibility to, 143890 (3)" GSBS 604088 7p15 Metabolic 724 "Hypercholesterolemia, susceptibility to, 143890 (3)" "ITIH4, PK120, ITIHL1" 600564 3p21.2-p14.1 Metabolic 725 Hyperekplexia and spastic paraparesis (3) "GLRA1, STHE" 138491 5q32 Neurological 725 "Hyperekplexia, autosomal recessive, 149400 (3)" GLRB 138492 4q31.3 Neurological 726 "Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)" PDGFRA 173490 4q12 Hematological 727 "Hyperferritinemia-cataract syndrome, 600886 (3)" FTL 134790 19q13.3-q13.4 Ophthamological 728 "Hyper-IgD syndrome, 260920 (3)" "MVK, MVLK" 251170 12q24 Immunological 731 "Hyperinsulinism, familial, 602485 (3)" GCK 138079 7p15-p13 Metabolic 732 "Hyperinsulinism-hyperammonemia syndrome, 606762 (3)" GLUD1 138130 10q23.3 Metabolic 733 "Hyperkalemic periodic paralysis, 170500 (3)" "SCN4A, HYPP, NAC1A" 603967 17q23.1-q25.3 Neurological 734 "Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3)" "CCM1, CAM, KRIT1" 604214 7q11.2-q21 Neurological 736 "Hyperlipidemia, familial combined, susceptibility to, 602491 (3)" "USF1, HYPLIP1" 191523 1q22-q23 Metabolic 737 "Hyperlipoproteinemia, type Ib, 207750 (3)" APOC2 608083 19q13.2 Metabolic 737 "Hyperlipoproteinemia, type III (3)" "APOE, AD2" 107741 19q13.2 Metabolic 738 "Hyperlysinemia, 238700 (3)" AASS 605113 7q31.3 Metabolic 739 "Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency (3)" "MAT1A, MATA1, SAMS1" 250850 10q22 Metabolic 739 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (3) "AHCY, SAHH" 180960 20cen-q13.1 Metabolic 740 "Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)" "SLC25A15, ORNT1, HHH" 603861 13q14 Metabolic 741 "Hyperostosis, endosteal, 144750 (3)" "LRP5, BMND1, LRP7, LR3, OPPG, VBCH2" 603506 11q13.4 Bone 742 "Hyperoxaluria, primary, type 1, 259900 (3)" "AGXT, SPAT" 604285 2q36-q37 Metabolic 742 "Hyperoxaluria, primary, type II, 260000 (3)" "GRHPR, GLXR" 604296 9cen Metabolic 743 "Hyperparathyroidism, AD, 145000 (3)" MEN1 131100 11q13 Endocrine 743 "Hyperparathyroidism, familial primary, 145000 (3)" "HRPT2, C1orf28" 607393 1q25-q31 Endocrine 743 "Hyperparathyroidism-jaw tumor syndrome, 145001 (3)" "HRPT2, C1orf28" 607393 1q25-q31 Endocrine 743 "Hyperparathyroidism, neonatal, 239200 (3)" "CASR, HHC1, PCAR1, FIH" 601199 3q13.3-q21 Endocrine 746 "Hyperphenylalaninemia due to pterin-4a-carbinolamine dehydratase deficiency, 264070 (3)" "PCBD, DCOH" 126090 10q22 Metabolic 746 "Hyperphenylalaninemia, mild (3)" "PAH, PKU1" 261600 12q24.1 Metabolic 748 "Hyperproinsulinemia, familial (3)" INS 176730 11p15.5 Endocrine 749 "Hyperprolinemia, type I, 239500 (3)" "PRODH, PRODH2, SCZD4" 606810 22q11.2 Metabolic 749 "Hyperprolinemia, type II, 239510 (3)" "ALDH4A1, ALDH4, P5CDH" 606811 1p36 Metabolic 750 Hyperproreninemia (3) REN 179820 1q32 Cardiovascular 751 Hyperprothrombinemia (3) F2 176930 11p11-q12 Hematological 752 "Hypertension, diastolic, resistance to, 608622 (3)" KCNMB1 603951 5q34 Cardiovascular 752 "Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)" "NR3C2, MLR, MCR" 600983 4q31.1 Cardiovascular 752 "Hypertension, essential, 145500 (3)" "AGTR1, AGTR1A, AT2R1" 106165 3q21-q25 Cardiovascular 752 "Hypertension, essential, 145500 (3)" "PTGIS, CYP8A1, PGIS, CYP8" 601699 20q13.11-q13.13 Cardiovascular 752 "Hypertension, essential, salt-sensitive, 145500 (3)" ADD1 102680 4p16.3 Cardiovascular 752 "Hypertension, essential, susceptibility to, 145500 (3)" "AGT, SERPINA8" 106150 1q42-q43 Cardiovascular 752 "Hypertension, essential, susceptibility to, 145500 (3)" ECE1 600423 1p36.1 Cardiovascular 752 "Hypertension, essential, susceptibility to, 145500 (3)" GNB3 139130 12p13 Cardiovascular 752 "Hypertension, insulin resistance-related, susceptibility to, 125853 (3)" "RETN, RSTN, FIZZ3" 605565 19p13.2 Cardiovascular 752 "Hypertension, mild low-renin (3)" "HSD11B2, HSD11K" 218030 16q22 Cardiovascular 752 "Hypertension, pregnancy-induced, 189800 (3)" NOS3 163729 7q36 Cardiovascular 752 "Hypertension, salt-sensitive essential, susceptibility to, 145500 (3)" "CYP3A5, P450PCN3" 605325 7q22.1 Cardiovascular 752 "Hypertension, susceptibility to, 145500 (3)" NOS3 163729 7q36 Cardiovascular 754 "Hyperthroidism, congenital (3)" TSHR 603372 14q31 Endocrine 755 "Hyperthyroidism, congenital (3)" "TPO, TPX" 606765 2p25 Endocrine 757 "Hypertriglyceridemia, one form (3)" APOA1 107680 11q23 Metabolic 757 "Hypertriglyceridemia, susceptibility to, 145750 (3)" APOA5 606368 11q23 Metabolic 757 "Hypertriglyceridemia, susceptibility to, 145750 (3)" "LIPI, LPDL, PRED5" 609252 21q11.2 Metabolic 757 "Hypertriglyceridemia, susceptibility to, 145750 (3)" "RP1, ORP1" 603937 8q11-q13 Metabolic 758 "Hypertrypsinemia, neonatal (3)" "CFTR, ABCC7, CF, MRP7" 602421 7q31.2 Gastrointestinal 759 "Hyperuricemic nephropathy, familial juvenile, 162000 (3)" "UMOD, HNFJ, FJHN, MCKD2, ADMCKD2" 191845 16p12.3 Renal 761 "Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)" CYP11B2 124080 8q21 Metabolic 761 "Hypoaldosteronism, congenital, due to CMO II deficiency (3)" CYP11B2 124080 8q21 Metabolic 762 Hypoalphalipoproteinemia (3) APOA1 107680 11q23 Metabolic 763 Hypobetalipoproteinemia (3) "APOB, FLDB" 107730 2p24 Metabolic 764 "Hypocalcemia, autosomal dominant, 146200 (3)" "CASR, HHC1, PCAR1, FIH" 601199 3q13.3-q21 Endocrine 764 "Hypocalcemia, autosomal dominant, with Bartter syndrome (3)" "CASR, HHC1, PCAR1, FIH" 601199 3q13.3-q21 Endocrine 765 "Hypocalciuric hypercalcemia, type I, 145980 (3)" "CASR, HHC1, PCAR1, FIH" 601199 3q13.3-q21 Endocrine 766 "Hypoceruloplasminemia, hereditary, 604290 (3)" CP 117700 3q23-q24 Metabolic 767 "Hypochondroplasia, 146000 (3)" "FGFR3, ACH" 134934 4p16.3 Skeletal 768 Hypochromic microcytic anemia (3) HBA2 141850 16pter-p13.3 Hematological 769 "Hypodontia, 106600 (3)" PAX9 167416 14q12-q13 Skeletal 769 "Hypodontia, autosomal dominant, 106600 (3)" "MSX1, HOX7, HYD1, OFC5" 142983 4p16.1 Skeletal 769 "Hypodontia with orofacial cleft, 106600 (3)" "MSX1, HOX7, HYD1, OFC5" 142983 4p16.1 Skeletal 770 "Hypofibrinogenemia, gamma type (3)" FGG 134850 4q28 Hematological 771 Hypoglobulinemia and absent B cells (3) "BLNK, SLP65" 604515 10q23.2 Immunological 772 "Hypoglycemia of infancy, leucine-sensitive, 240800 (3)" "ABCC8, SUR, PHHI, SUR1" 600509 11p15.1 Metabolic 772 "Hypoglycemia of infancy, persistent hyperinsulinemic, 256450 (3)" "ABCC8, SUR, PHHI, SUR1" 600509 11p15.1 Metabolic 773 "Hypogonadism, hypergonadotropic (3)" LHB 152780 19q13.32 Endocrine 774 "Hypogonadotropic hypogonadism, 146110 (3)" GPR54 604161 19p13.3 Endocrine 774 "Hypogonadotropic hypogonadism, 146110 (3)" NELF 608137 9q34.3 Endocrine 774 Hypogonadotropic hypogonadism (3) "GNRHR, LHRHR" 138850 4q21.2 Endocrine 774 Hypogonadotropic hypogonadism (3) LHCGR 152790 2p21 Endocrine 775 Hypohaptoglobinemia (3) HP 140100 16q22.1 Hematological 776 "Hypokalemic periodic paralysis, 170400 (3)" "CACNA1S, CACNL1A3, CCHL1A3" 114208 1q32 Renal 776 "Hypokalemic periodic paralysis, 170400 (3)" "KCNE3, HOKPP" 604433 11q13-q14 Renal 776 "Hypokalemic periodic paralysis, 170400 (3)" "SCN4A, HYPP, NAC1A" 603967 17q23.1-q25.3 Renal 777 "Hypolactasia, adult type, 223100 (3)" "LCT, LAC, LPH" 603202 2q21 Metabolic 777 "Hypolactasia, adult type, 223100 (3)" MCM6 601806 2q21 Metabolic 778 "Hypomagnesemia-2, renal, 154020 (3)" "FXYD2, ATP1G1, HOMG2" 601814 11q23 Renal 778 "Hypomagnesemia, primary, 248250 (3)" "CLDN16, PCLN1" 603959 3q27 Renal 778 "Hypomagnesemia with secondary hypocalcemia, 602014 (3)" "TRPM6, CHAK2" 607009 9q22 Renal 779 "Hypoparathyroidism, autosomal dominant(3)" PTH 168450 11p15.3-p15.1 Endocrine 779 "Hypoparathyroidism, autosomal recessive (3)" PTH 168450 11p15.3-p15.1 Endocrine 779 "Hypoparathyroidism, familial isolated, 146200 (3)" GCMB 603716 6p24.2 Endocrine 780 "Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3)" "TBCE, KCS, KCS1, HRD" 604934 1q42-q43 Endocrine 781 "Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3)" "GATA3, HDR" 131320 10p15 Endocrine 782 "Hypophosphatasia, childhood, 241510 (3)" "ALPL, HOPS, TNSALP" 171760 1p36.1-p34 Metabolic 782 "Hypophosphatasia, infantile, 241500 (3)" "ALPL, HOPS, TNSALP" 171760 1p36.1-p34 Metabolic 783 "Hypophosphatemia, type III (3)" "CLCN5, CLCK2, NPHL2, DENTS" 300008 Xp11.22 Metabolic 783 "Hypophosphatemia, X-linked, 307800 (3)" "PHEX, HYP, HPDR1" 300550 Xp22.2-p22.1 Metabolic 784 "Hypophosphatemic rickets, autosomal dominant, 193100 (3)" "FGF23, ADHR, HPDR2, PHPTC" 605380 12p13.3 Bone 785 "Hypoplastic enamel pitting, localized, 608563 (3)" ENAM 606585 4q21 Connective tissue disorder 2785 "Hypoplastic left heart syndrome, 241550 (3)" "GJA1, CX43, ODDD, SDTY3, ODOD" 121014 6q21-q23.2 Cardiovascular 786 Hypoprothrombinemia (3) F2 176930 11p11-q12 Hematological 787 "Hypothyroidism, autoimmune, 140300 (3)" CTLA4 123890 2q33 Endocrine 787 "Hypothyroidism, congenital, 274400 (3)" "SLC5A5, NIS" 601843 19p13.2-p12 Endocrine 787 "Hypothyroidism, congenital, due to DUOX2 deficiency, 607200 (3)" "DUOX2, THOX2" 606759 15q15.3 Endocrine 787 "Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3)" PAX8 167415 2q12-q14 Endocrine 787 "Hypothyroidism, congenital, due to TSH resistance, 275200 (3)" TSHR 603372 14q31 Endocrine 787 "Hypothyroidism, hereditary congenital (3)" "TG, AITD3" 188450 8q24.2-q24.3 Endocrine 787 "Hypothyroidism, nongoitrous (3)" TSHB 188540 1p13 Endocrine 787 "Hypothyroidism, subclinical (3)" TSHR 603372 14q31 Endocrine 788 "Hypotrichosis, congential, with juvenile macular dystrophy, 601553 (3)" "CDH3, CDHP, PCAD, HJMD" 114021 16q22.1 Dermatological 788 "Hypotrichosis, localized, autosomal recessive, 607903 (3)" "DSG4, LAH" 607892 18q12 Dermatological 788 "Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3)" "SOX18, HLTS" 601618 20q13.33 Dermatological 788 "Hypotrichosis simplex of scalp, 146520 (3)" "CDSN, HTSS" 602593 6p21.3 Dermatological 791 "Hypouricemia, renal, 220150 (3)" "SLC22A12, OAT4L, URAT1" 607096 11q13 Renal 792 "Hystrix-like ichthyosis with deafness, 602540 (3)" "GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID" 121011 13q11-q12 multiple 793 "Ichthyosiform erythroderma, congenital, 242100 (3)" "TGM1, ICR2, LI1" 190195 14q11.2 Dermatological 793 "Ichthyosiform erythroderma, congenital, nonbullous, 1, 242100 (3)" ALOX12B 603741 17pter-p13.1 Dermatological 793 "Ichthyosiform erythroderma, congenital, nonbullous, 1, 242100 (3)" ALOXE3 607206 17p13.1 Dermatological 794 "Ichthyosis bullosa of Siemens, 146800 (3)" "KRT2A, KRT2E" 600194 12q11-q13 Dermatological 794 "Ichthyosis, congenital, autosomal recessive (3)" ICHYN 609383 5q33 Dermatological 794 "Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)" KRT10 148080 17q21-q22 Dermatological 794 "Ichthyosis, harlequin, 242500 (3)" "ABCA12, ICR2B, LI2" 607800 2q34 Dermatological 794 "Ichthyosis histrix, Curth-Macklin type, 146590 (3)" KRT1 139350 12q13 Dermatological 794 "Ichthyosis, lamellar 2, 601277 (3)" "ABCA12, ICR2B, LI2" 607800 2q34 Dermatological 794 "Ichthyosis, lamellar, autosomal recessive, 242300 (3)" "TGM1, ICR2, LI1" 190195 14q11.2 Dermatological 794 "Ichthyosis, X-linked (3)" "STS, ARSC1, ARSC, SSDD" 308100 Xp22.32 Dermatological 795 "ICOS deficiency, 607594 (3)" "ICOS, AILIM" 604558 2q33 Immunological 797 "IgE levels QTL, 147050 (3)" "PHF11, NYREN34" 607796 13q14.1 Immunological 798 "IgG2 deficiency, selective (3)" IGHG2 147110 14q32.33 Immunological 799 "IgG receptor I, phagocytic, familial deficiency of (3)" "FCGR1A, IGFR1, CD64" 146760 1q21.2-q21.3 Immunological 801 "Immunodeficiency-centromeric instability-facial anomalies syndrome, 242860 (3)" "DNMT3B, ICF" 602900 20q11.2 multiple 802 Immunodeficiency due to defect in CD3-epsilon (3) CD3E 186830 11q23 Immunological 802 Immunodeficiency due to defect in CD3-gamma (3) CD3G 186740 11q23 Immunological 802 "Immunodeficiency with hyper-IgM, type 2, 605258 (3)" "AICDA, AID, HIGM2" 605257 12p13 Immunological 802 "Immunodeficiency with hyper-IgM, type 3, 606843 (3)" "TNFRSF5, CD40" 109535 20q12-q13.2 Immunological 802 "Immunodeficiency with hyper IgM, type 4, 608106 (3)" "UNG, DGU, HIGM4" 191525 12q23-q24.1 Immunological 802 "Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)" "TNFSF5, CD40LG, HIGM1, IGM" 300386 Xq26 Immunological 803 "Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)" "FOXP3, IPEX, AIID, XPID, PIDX" 300292 Xp11.23-q13.3 multiple 804 "Immunoglobulin A deficiency, 609529 (3)" "TNFRSF14B, TACI" 604907 17p11.2 Immunological 805 "Inclusion body myopathy-3, 605637 (3)" MYH2 160740 17p13.1 Muscular 805 "Inclusion body myopathy, autosomal recessive, 600737 (3)" "GNE, GLCNE, IBM2, DMRV, NM" 603824 9p12-p11 Muscular 805 "Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, 167320 (3)" "VCP, IBMPFD" 601023 9p13-p12 Muscular 806 "Incontinentia pigmenti, type II, 308300 (3)" "IKBKG, NEMO, FIP3, IP2" 300248 Xq28 Dermatological 807 "Infantile spasm syndrome, 308350 (3)" "ARX, ISSX, PRTS, MRXS1, MRX36, MRX54" 300382 Xp22.13 Neurological 809 Infundibular hypoplasia and hypopituitarism (3) "SOX3, MRGH" 313430 Xq26.3 Endocrine 810 Inosine triphosphatase deficiency (3) ITPA 147520 20p Metabolic 811 "Insensitivity to pain, congenital, with anhidrosis, 256800 (3)" "NTRK1, TRKA, MTC" 191315 1q21-q22 Neurological 812 Insomnia (3) () GABRB3 137192 15q11.2-q12 Psychiatric 812 "Insomnia, fatal familial, 600072 (3)" "PRNP, PRIP" 176640 20pter-p12 Psychiatric 814 "Insulin resistance, severe, digenic, 604367 (3)" "PPARG, PPARG1, PPARG2" 601487 3p25 Metabolic 814 "Insulin resistance, severe, digenic, 604367 (3)" "PPP1R3A, PPP1R3" 600917 7q11.23-q21.11 Metabolic 814 "Insulin resistance, susceptibility to (3)" "PTPN1, PTP1B" 176885 20q13.1-q13.2 Metabolic 816 "Interleukin-2 receptor, alpha chain, deficiency of (3)" "IL2RA, IL2R" 147730 10p15-p14 Immunological 817 "Intervertebral disc disease, susceptibility to, 603932 (3)" "COL9A2, EDM2" 120260 1p33-p32.2 Neurological 817 "Intervertebral disc disease, susceptibility to, 603932 (3)" "COL9A3, EDM3, IDD" 120270 20q13.3 Neurological 819 Intrauterine and postnatal growth retardation (3) IGF1R 147370 15q25-q26 Developmental 819 Intrauterine and postnatal growth retardation (3) IGF2 147470 11p15.5 Developmental 820 "Intrinsic factor deficiency, 261000 (3)" "GIF, IF" 609342 11q13 Hematological 821 "IRAK4 deficiency, 607676 (3)" "IRAK4, REN64" 606883 12q12 Immunological 822 "Iridogoniodysgenesis, 601631 (3)" "FOXC1, FKHL7, FREAC3" 601090 6p25 Ophthamological 822 "Iridogoniodysgenesis syndrome-2, 137600 (3)" "PITX2, IDG2, RIEG1, RGS, IGDS2" 601542 4q25-q26 Ophthamological 823 Iris hypoplasia and glaucoma (3) "FOXC1, FKHL7, FREAC3" 601090 6p25 Ophthamological 824 "Iron deficiency anemia, susceptibility to (3)" TF 190000 3q21 Hematological 824 "Iron overload, autosomal dominant (3)" "FTH1, FTHL6" 134770 11q12-q13 Hematological 825 "Isolated growth hormone deficiency, Illig type with absent GH and Kowarski type with bioinactive GH (3)" "GH1, GHN" 139250 17q22-q24 Endocrine 826 "Isovaleric acidemia, 243500 (3)" IVD 607036 15q14-q15 Metabolic 827 "Jackson-Weiss syndrome, 123150 (3)" "FGFR1, FLT2, KAL2" 136350 8p11.2-p11.1 Skeletal 827 "Jackson-Weiss syndrome, 123150 (3)" "FGFR2, BEK, CFD1, JWS" 176943 10q26 Skeletal 829 "Jensen syndrome, 311150 (3)" "TIMM8A, DFN1, DDP, MTS, DDP1" 300356 Xq22 Neurological 830 "Jervell and Lange-Nielsen syndrome, 220400 (3)" "KCNE1, JLNS, LQT5" 176261 21q22.1-q22.2 multiple 830 "Jervell and Lange-Nielsen syndrome, 220400 (3)" "KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1" 607542 11p15.5 multiple 831 "Joubert syndrome, 213300 (3)" "NPHP1, NPH1, SLSN1" 607100 2q13 multiple 831 "Joubert syndrome-3, 608629 (3)" AHI1 608894 6q23.3 multiple 832 "Juberg-Marsidi syndrome, 309590 (3)" "ATRX, XH2, XNP, MRXS3, SHS" 300032 Xq13 multiple 833 "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3)" "MADH4, DPC4, SMAD4, JIP" 600993 18q21.1 Cancer 835 "Kallikrein, decreased urinary activity of (3)" "KLK1, KLKR" 147910 19q13.2-q13.4 Renal 836 "Kallmann syndrome 2, 147950 (3)" "FGFR1, FLT2, KAL2" 136350 8p11.2-p11.1 multiple 836 Kallmann syndrome (3) "KAL1, KMS, ADMLX" 308700 Xp22.3 multiple 837 "Kanzaki disease, 609242 (3)" NAGA 104170 22q11 Metabolic 838 "Kaposi sarcoma, susceptibility to, 148000 (3)" "IL6, IFNB2, BSF2" 147620 7p21 Immunological 839 Kappa light chain deficiency (3) IGKC 147200 2p12 Immunological 840 "Kartagener syndrome, 244400 (3)" "DNAH11, DNAHC11" 603339 Chr.7 multiple 840 "Kartagener syndrome, 244400 (3)" "DNAH5, HL1, PCD, CILD3" 603335 5p15-p14 multiple 840 "Kartagener syndrome, 244400 (3)" "DNAI1, CILD1, ICS, PCD" 604366 9p21-p13 multiple 841 "Kenny-Caffey syndrome-1, 244460 (3)" "TBCE, KCS, KCS1, HRD" 604934 1q42-q43 multiple 842 "Keratitis, 148190 (3)" "PAX6, AN2, MGDA" 607108 11p13 Ophthamological 843 "Keratitis-ichthyosis-deafness syndrome, 148210 (3)" "GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID" 121011 13q11-q12 multiple 844 "Keratoconus, 148300 (3)" "VSX1, RINX, PPCD, PPD, KTCN" 605020 20p11.2 Ophthamological 845 "Keratoderma, palmoplantar, with deafness, 148350 (3)" "GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID" 121011 13q11-q12 Dermatological 847 "Keratosis follicularis spinulosa decalvans, 308800 (3)" "SAT, SSAT, KFSD" 313020 Xp22.1 Dermatological 847 "Keratosis palmoplantaria striata, 148700 (3)" KRT1 139350 12q13 Dermatological 847 "Keratosis palmoplantaris striata I, 148700 (3)" DSG1 125670 18q12.1-q12.2 Dermatological 847 Keratosis palmoplantaris striata II (3) "DSP, KPPS2, PPKS2" 125647 6p24 Dermatological 847 "Keratosis palmoplantaris striata III, 607654 (3)" KRT1 139350 12q13 Dermatological 848 Ketoacidosis due to SCOT deficiency (3) "SCOT, OXCT" 245050 5p13 Metabolic 849 "Keutel syndrome, 245150 (3)" "MGP, NTI" 154870 12p13.1-p12.3 multiple 850 "Kindler syndrome, 173650 (3)" "KIND1, URP1, C20orf42" 607900 20p13 Dermatological 851 Kininogen deficiency (3) KNG 228960 3q27 Hematological 853 "Klippel-Trenaunay syndrome, 149000 (3)" "VG5Q, HUS84971, FLJ10283" 608464 5q13.3 multiple 854 "Kniest dysplasia, 156550 (3)" COL2A1 120140 12q13.11-q13.2 Skeletal 855 "Knobloch syndrome, 267750 (3)" "COL18A1, KNO" 120328 21q22.3 multiple 856 "Krabbe disease, 245200 (3)" GALC 606890 14q31 Neurological 857 "L-2-hydroxyglutaric aciduria, 236792 (3)" "L2HGDH, C14orf160" 609584 14q22.1 Metabolic 858 Lactate dehydrogenase-B deficiency (3) LDHB 150100 12p12.2-p12.1 Metabolic 859 "Lacticacidemia due to PDX1 deficiency, 245349 (3)" PDX1 608769 11p13 Metabolic 862 "Langer mesomelic dysplasia, 249700 (3)" "SHOX, GCFX, SS, PHOG" 312865 Xpter-p22.32 Skeletal 862 "Langer mesomelic dysplasia, 249700 (3)" SHOXY 400020 Ypter-p11.2 Skeletal 863 "Laron dwarfism, 262500 (3)" GHR 600946 5p13-p12 Skeletal 865 "Larson syndrome, 150250 (3)" "FLNB, SCT, AOI" 603381 3p14.3 Skeletal 868 "Laryngoonychocutaneous syndrome, 245660 (3)" "LAMA3, LOCS" 600805 18q11.2 multiple 869 "Lathosterolosis, 607330 (3)" "SC5DL, ERG3" 602286 11q23.3 Metabolic 870 LCHAD deficiency (3) "HADHA, MTPA" 600890 2p23 Metabolic 871 "Lead poisoning, susceptibility to (3)" ALAD 125270 9q34 Metabolic 872 "Leanness, inherited (3)" "AGRP, ART, AGRT" 602311 16q22 Nutritional 873 "Leber congenital amaurosis, 204000 (3)" "CRB1, RP12" 604210 1q31-q32.1 Ophthamological 873 "Leber congenital amaurosis, 204000 (3)" "CRX, CORD2, CRD" 602225 19q13.3 Ophthamological 873 "Leber congenital amaurosis, 204000 (3)" "RPGRIP1, LCA6, CORD9" 605446 14q11 Ophthamological 873 "Leber congenital amaurosis-2, 204100 (3)" "RPE65, RP20" 180069 1p31 Ophthamological 873 "Leber congenital amaurosis, 604393 (3)" "AIPL1, LCA4" 604392 17p13.1 Ophthamological 873 "Leber congenital amaurosis, type I, 204000 (3)" "GUCY2D, GUC2D, LCA1, CORD6" 600179 17p13.1 Ophthamological 873 "Leber congenital amaurosis, type III, 604232 (3)" "RDH12, LCA3" 608830 14q23.3 Ophthamological 874 Left-right axis malformations (3) ACVR2B 602730 3p22-p21.3 Developmental 874 Left-right axis malformations (3) "EBAF, TGFB4, LEFTY2, LEFTA, LEFTYA" 601877 1q42.1 Developmental 875 "Left ventricular noncompaction, familial isolated, 1, 604169 (3)" "DTNA, D18S892E, DRP3, LVNC1" 601239 18q12.1-q12.2 Cardiovascular 875 "Left ventricular noncompaction with congenital heart defects, 606617 (3)" "DTNA, D18S892E, DRP3, LVNC1" 601239 18q12.1-q12.2 Cardiovascular 876 "Legionaire disease, susceptibility to, 608556 (3)" "TLR5, TIL3" 603031 1q41-q42 Immunological 877 "Leigh syndrome, 256000 (3)" "BCS1L, FLNMS, GRACILE" 603647 2q33 Neurological 877 "Leigh syndrome, 256000 (3)" "DLD, LAD, PHE3" 238331 7q31-q32 Neurological 877 "Leigh syndrome, 256000 (3)" NDUFS3 603846 11p11.11 Neurological 877 "Leigh syndrome, 256000 (3)" "NDUFS4, AQDQ" 602694 5q11.1 Neurological 877 "Leigh syndrome, 256000 (3)" "NDUFS7, PSST" 601825 19p13 Neurological 877 "Leigh syndrome, 256000 (3)" NDUFS8 602141 11q13 Neurological 877 "Leigh syndrome, 256000 (3)" "NDUFV1, UQOR1" 161015 11q13 Neurological 877 "Leigh syndrome, 256000 (3)" "SDHA, SDH2, SDHF" 600857 5p15 Neurological 877 "Leigh syndrome, due to COX deficiency, 256000 (3)" SURF1 185620 9q34 Neurological 877 "Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)" COX15 603646 10q24 Neurological 877 "Leigh syndrome, French-Canadian type, 220111 (3)" "LRPPRC, LRP130, LSFC" 607544 2p21-p16 Neurological 877 "Leigh syndrome, X-linked, 308930 (3)" "PDHA1, PHE1A" 312170 Xp22.2-p22.1 Neurological 878 "Leiomyomatosis and renal cell cancer, 605839 (3)" FH 136850 1q42.1 Cancer 878 "Leiomyomatosis, diffuse, with Alport syndrome, 308940 (3)" COL4A6 303631 Xq22.3 Cancer 880 "Leopard syndrome, 151100 (3)" "PTPN11, PTP2C, SHP2, NS1" 176876 12q24.1 multiple 881 "Leprechaunism, 246200 (3)" INSR 147670 19p13.2 Developmental 882 "Leprosy, susceptibility to, 607572 (3)" "PRKN, PARK2, PDJ" 602544 6q25.2-q27 Immunological 883 "Leri-Weill dyschondrosteosis, 127300 (3)" "SHOX, GCFX, SS, PHOG" 312865 Xpter-p22.32 Skeletal 883 "Leri-Weill dyschondrosteosis, 127300 (3)" SHOXY 400020 Ypter-p11.2 Skeletal 884 "Lesch-Nyhan syndrome, 300322, (3)" "HPRT1, HPRT" 308000 Xq26-q27.2 Metabolic 886 "Leukemia-1, T-cell acute lymphocytic (3)" "TAL1, TCL5, SCL" 187040 1p32 Cancer 886 "Leukemia-2, T-cell acute lymphoblastic (3)" TAL2 186855 9q31 Cancer 886 "Leukemia, acute lymphoblastic (3)" FLT3 136351 13q12 Cancer 886 "Leukemia, acute lymphoblastic (3)" "NBS1, NBS" 602667 8q21 Cancer 886 "Leukemia, acute lymphoblastic (3)" "ZNFN1A1, IK1, LYF1" 603023 7p12 Cancer 886 "Leukemia, acute lymphoblastic, susceptibility to (3)" "HOXD4, HOX4B" 142981 2q31-q32 Cancer 886 "Leukemia, acute lymphocytic (3)" "BCR, CML, PHL, ALL" 151410 22q11.21 Cancer 886 "Leukemia, acute myeloblastic (3)" ARNT 126110 1q21 Cancer 886 "Leukemia, acute myelogenous (3)" "KRAS2, RASK2" 190070 12p12.1 Cancer 886 "Leukemia, acute myelogenous, 601626 (3)" GMPS 600358 3q24 Cancer 886 "Leukemia, acute myeloid, 601626 (3)" AF10 602409 10p12 Cancer 886 "Leukemia, acute myeloid, 601626 (3)" "ARHGEF12, LARG, KIAA0382" 604763 11q23.3 Cancer 886 "Leukemia, acute myeloid, 601626 (3)" "CALM, CLTH" 603025 11q14 Cancer 886 "Leukemia, acute myeloid, 601626 (3)" "CEBPA, CEBP" 116897 19q13.1 Cancer 886 "Leukemia, acute myeloid, 601626 (3)" "CHIC2, BTL" 604332 4q11-q12 Cancer 886 "Leukemia, acute myeloid, 601626 (3)" FLT3 136351 13q12 Cancer 886 "Leukemia, acute myeloid, 601626 (3)" "KIT, PBT" 164920 4q12 Cancer 886 "Leukemia, acute myeloid, 601626 (3)" LPP 600700 3q28 Cancer 886 "Leukemia, acute myeloid, 601626 (3)" NPM1 164040 5q35 Cancer 886 "Leukemia, acute myeloid, 601626 (3)" "NUP214, D9S46E, CAN, CAIN" 114350 9q34.1 Cancer 886 "Leukemia, acute myeloid, 601626 (3)" "RUNX1, CBFA2, AML1" 151385 21q22.3 Cancer 886 "Leukemia, acute myeloid, 601626 (3)" "WHSC1L1, NSD3" 607083 8p12 Cancer 886 "Leukemia, acute myeloid, reduced survival in (3)" FLT3 136351 13q12 Cancer 886 "Leukemia, acute myelomonocytic (3)" AF1Q 604684 1q21 Cancer 886 "Leukemia, acute promyelocytic, NPM/RARA type (3)" NPM1 164040 5q35 Cancer 886 "Leukemia, acute promyelocytic, NUMA/RARA type (3)" NUMA1 164009 11q13 Cancer 886 "Leukemia, acute promyelocytic, PL2F/RARA type (3)" "ZNF145, PLZF" 176797 11q23.1 Cancer 886 "Leukemia, acute promyelocytic, PML/RARA type (3)" "PML, MYL" 102578 15q22 Cancer 886 "Leukemia, acute promyeloyctic, STAT5B/RARA type (3)" STAT5B 604260 17q11.2 Cancer 886 "Leukemia, acute T-cell lymphoblastic (3)" AF10 602409 10p12 Cancer 886 "Leukemia, acute T-cell lymphoblastic (3)" "CALM, CLTH" 603025 11q14 Cancer 886 "Leukemia, chronic lymphatic, susceptibility to, 151400 (3)" "ARL11, ARLTS1" 609351 13q14.3 Cancer 886 "Leukemia, chronic lymphatic, susceptibility to, 151400 (3)" "P2RX7, P2X7" 602566 12q24 Cancer 886 "Leukemia, chronic myeloid, 608232 (3)" "BCR, CML, PHL, ALL" 151410 22q11.21 Cancer 886 "Leukemia, juvenile myelomonocytic, 607785 (3)" GRAF 605370 5q31 Cancer 886 "Leukemia, juvenile myelomonocytic, 607785 (3)" "NF1, VRNF, WSS, NFNS" 162200 17q11.2 Cancer 886 "Leukemia, juvenile myelomonocytic, 607785 (3)" "PTPN11, PTP2C, SHP2, NS1" 176876 12q24.1 Cancer 886 "Leukemia/lymphoma, B-cell, 2 (3)" BCL2 151430 18q21.3 Cancer 886 "Leukemia/lymphoma, chronic B-cell, 151400 (3)" "CCND1, PRAD1, BCL1" 168461 11q13 Cancer 886 "Leukemia/lymphoma, T-cell (3)" TCRA 186880 14q11.2 Cancer 886 "Leukemia, megakaryoblastic, of Down syndrome, 190685 (3)" "GATA1, GF1, ERYF1, NFE1" 305371 Xp11.23 Cancer 886 "Leukemia, megakaryoblastic, with or without Down syndrome, 190685 (3)" "GATA1, GF1, ERYF1, NFE1" 305371 Xp11.23 Cancer 886 "Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)" ABL1 189980 9q34.1 Cancer 886 "Leukemia, post-chemotherapy, susceptibility to (3)" "NQO1, DIA4, NMOR1" 125860 16q22.1 Cancer 886 "Leukemia, T-cell acute lymphoblastic (3)" "NUP214, D9S46E, CAN, CAIN" 114350 9q34.1 Cancer 889 "Leukocyte adhesion deficiency, 116920 (3)" "ITGB2, CD18, LCAMB, LAD" 600065 21q22.3 Immunological 891 "Leukoencephalopathy with vanishing white matter, 603896 (3)" "EIF2B1, EIF2BA" 606686 Chr.12 Neurological 891 "Leukoencephalopathy with vanishing white matter, 603896 (3)" EIF2B2 606454 14q24 Neurological 891 "Leukoencephalopathy with vanishing white matter, 603896 (3)" EIF2B3 606273 1p34.1 Neurological 891 "Leukoencephalopathy with vanishing white matter, 603896 (3)" "EIF2B5, LVWM, CACH, CLE" 603945 3q27 Neurological 891 "Leukoencephaly with vanishing white matter, 603896 (3)" EIF2B4 606687 2p23.3 Neurological 894 "Leydig cell adenoma, with precocious puberty (3)" LHCGR 152790 2p21 Cancer 895 Lhermitte-Duclos syndrome (3) "PTEN, MMAC1" 601728 10q23.31 Cancer 896 "Liddle syndrome, 177200 (3)" SCNN1B 600760 16p13-p12 Renal 896 "Liddle syndrome, 177200 (3)" "SCNN1G, PHA1" 600761 16p13-p12 Renal 897 "Li Fraumeni syndrome, 151623 (3)" "CDKN2A, MTS1, P16, MLM, CMM2" 600160 9p21 Cancer 898 "Li-Fraumeni syndrome, 151623 (3)" "TP53, P53, LFS1" 191170 17p13.1 Cancer 898 "Li-Fraumeni syndrome, 609265 (3)" "CHEK2, RAD53, CHK2, CDS1, LFS2" 604373 22q12.1 Cancer 899 "LIG4 syndrome, 606593 (3)" LIG4 601837 13q22-q34 multiple 901 "Limb-mammary syndrome, 603543 (3)" "TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS" 603273 3q27 multiple 902 "Lipodystrophy, congenital generalized, type 1, 608594 (3)" "AGPAT2, LPAAB, BSCL, BSCL1" 603100 9q34.3 Metabolic 902 "Lipodystrophy, congenital generalized, type 2, 269700 (3)" "BSCL2, SPG17" 606158 11q13 Metabolic 902 "Lipodystrophy, familial partial, 151660 (3)" "LMNA, LMN1, EMD2, FPLD, CMD1A, HGPS, LGMD1B" 150330 1q21.2 Metabolic 902 "Lipodystrophy, familial partial, 151660 (3)" "PPARG, PPARG1, PPARG2" 601487 3p25 Metabolic 902 "Lipodystrophy, familial partial, with decreased subcutaneous fat of face and neck (3)" "PPARGC1A, PPARGC1" 604517 4p15.1 Metabolic 903 "Lipoid adrenal hyperplasia, 201710 (3)" STAR 600617 8p11.2 Endocrine 903 "Lipoid congenital adrenal hyperplasia, 201710 (3)" "CYP11A, P450SCC" 118485 15q23-q24 Endocrine 2903 "Lipoid proteinosis, 247100 (3)" ECM1 602201 1q21 Metabolic 904 Lipoma (3) "HMGA2, HMGIC, BABL, LIPO" 600698 12q14.3 Cancer 904 Lipoma (3) LPP 600700 3q28 Cancer 904 "Lipoma, sporadic (3)" MEN1 131100 11q13 Cancer 904 "Lipomatosis, mutiple, 151900 (3)" "HMGA2, HMGIC, BABL, LIPO" 600698 12q14.3 Cancer 906 Lipoprotein lipase deficiency (3) "LPL, LIPD" 238600 8p22 Metabolic 908 "Lissencephaly-1, 607432 (3)" "PAFAH1B1, LIS1" 601545 17p13.3 Neurological 908 "Lissencephaly syndrome, Norman-Roberts type, 257320 (3)" "RELN, RL" 600514 7q22 Neurological 908 "Lissencephaly, X-linked, 300067 (3)" "DCX, DBCN, LISX" 300121 Xq22.3-q23 Neurological 908 "Lissencephaly, X-linked with ambiguous genitalia, 300215 (3)" "ARX, ISSX, PRTS, MRXS1, MRX36, MRX54" 300382 Xp22.13 Neurological 909 "Listeria monocytogenes, susceptibility to (3)" "CDH1, UVO" 192090 16q22.1 Immunological 910 "Loeys-Dietz syndrome, 609192 (3)" TGFBR1 190181 9q33-q34 Connective tissue disorder 910 "Loeys-Dietz syndrome, 609192 (3)" "TGFBR2, HNPCC6" 190182 3p22 Connective tissue disorder 911 "Longevity, exceptional, 152430 (3)" CETP 118470 16q21 Developmental 911 "Longevity, reduced, 152430 (3)" AKAP10 604694 17p11.1 Developmental 912 "Long QT syndrome-1, 192500 (3)" "KCNQ1, KCNA9, LQT1, KVLQT1, ATFB1" 607542 11p15.5 Cardiovascular 912 Long QT syndrome-2 (3) "KCNH2, LQT2, HERG" 152427 7q35-q36 Cardiovascular 912 "Long QT syndrome-3, 603830 (3)" "SCN5A, LQT3, IVF, HB1, SSS1" 600163 3p21 Cardiovascular 912 "Long QT syndrome 4, 600919 (3)" "ANK2, LQT4" 106410 4q25-q27 Cardiovascular 912 Long QT syndrome-5 (3) "KCNE1, JLNS, LQT5" 176261 21q22.1-q22.2 Cardiovascular 912 Long QT syndrome-6 (3) "KCNE2, MIRP1, LQT6" 603796 21q22.1 Cardiovascular 912 "Long QT syndrome-7, 170390 (3)" "KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7" 600681 17q23.1-q24.2 Cardiovascular 913 "Lower motor neuron disease, progressive, without sensory symptoms, 607641 (3)" DCTN1 601143 2p13 Neurological 914 "Lowe syndrome, 309000 (3)" "OCRL, LOCR, OCRL1, NPHL2" 300535 Xq26.1 Metabolic 915 "Low renin hypertension, susceptibility to (3)" CYP11B2 124080 8q21 Cardiovascular 916 "LPA deficiency, congenital (3)" LPA 152200 6q27 Metabolic 917 "Lumbar disc disease, susceptibility to, 603932 (3)" CILP 603489 15q22 Skeletal 918 "Lung cancer, 211980 (3)" "KRAS2, RASK2" 190070 12p12.1 Cancer 918 "Lung cancer, 211980 (3)" PPP2R1B 603113 11q22-q24 Cancer 918 "Lung cancer, 211980 (3)" "SLC22A1L, BWSCR1A, IMPT1" 602631 11p15.5 Cancer 918 "Lung cancer, somatic, 211980 (3)" "MAP3K8, COT, EST, TPL2" 191195 10p11.2 Cancer 919 "Lupus nephritis, susceptibility to (3)" "FCGR2A, IGFR2, CD32" 146790 1q21-q23 Connective tissue disorder 920 "Lymphangioleiomyomatosis, 606690 (3)" "TSC1, LAM" 605284 9q34 Respiratory 920 "Lymphangioleiomyomatosis, somatic, 606690 (3)" "TSC2, LAM" 191092 16p13.3 Respiratory 921 "Lymphedema and ptosis, 153000 (3)" "FOXC2, FKHL14, MFH1" 602402 16q24.3 Hematological 921 "Lymphedema-distichiasis syndrome, 153400 (3)" "FOXC2, FKHL14, MFH1" 602402 16q24.3 Hematological 921 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus (3) "FOXC2, FKHL14, MFH1" 602402 16q24.3 Hematological 921 "Lymphedema, hereditary I, 153100 (3)" "FLT4, VEGFR3, PCL" 136352 5q35.3 Hematological 921 "Lymphedema, hereditary II, 153200 (3)" "FOXC2, FKHL14, MFH1" 602402 16q24.3 Hematological 925 "Lymphocytic leukemia, acute T-cell (3)" RAP1GDS1 179502 4q21-q25 Cancer 925 "Lymphoma, B-cell non-Hodgkin, somatic (3)" "ATM, ATA, AT1" 607585 11q22.3 Cancer 925 "Lymphoma, diffuse large cell (3)" BCL8 601889 15q11-q13 Cancer 925 "Lymphoma, follicular (3)" BCL10 603517 1p22 Cancer 925 "Lymphoma, MALT (3)" BCL10 603517 1p22 Cancer 925 "Lymphoma, mantle cell (3)" "ATM, ATA, AT1" 607585 11q22.3 Cancer 925 "Lymphoma, non-Hodgkin (3)" RAD54B 604289 8q21.3-q22 Cancer 925 "Lymphoma, non-Hodgkin (3)" "RAD54L, HR54, HRAD54" 603615 1p32 Cancer 925 "Lymphoma, progression of (3)" "FCGR2B, CD32" 604590 1q22 Cancer 925 "Lymphoma, somatic (3)" "MAD1L1, TXBP181" 602686 7p22 Cancer 925 "Lymphoma, T-cell (3)" "MSH2, COCA1, FCC1, HNPCC1" 609309 2p22-p21 Cancer 925 "Lymphoproliferative syndrome, X-linked, 308240 (3)" "SH2D1A, LYP, IMD5, XLP, XLPD" 300490 Xq25 Cancer 930 "Lynch cancer family syndrome II, 114400 (3)" "MSH2, COCA1, FCC1, HNPCC1" 609309 2p22-p21 Cancer 931 "Lysinuric protein intolerance, 222700 (3)" "SLC7A7, LPI" 603593 14q11.2 Metabolic 933 "Machado-Joseph disease, 109150 (3)" "ATXN3, MJD, SCA3" 607047 14q24.3-q31 Neurological 935 "Macrocytic anemia, refractory, of 5q- syndrome, 153550 (3)" "IRF1, MAR" 147575 5q31.1 Hematological 936 "Macrothrombocytopenia, 300367 (3)" "GATA1, GF1, ERYF1, NFE1" 305371 Xp11.23 Hematological 2937 "Macular corneal dystrophy, 217800 (3)" "CHST6, MCDC1" 605294 16q22 Ophthamological 937 "Macular degeneration, age-related, 1, 603075 (3)" "HF1, CFH, HUS" 134370 1q32 Ophthamological 937 "Macular degeneration, age-related, 1, 603075 (3)" "HMCN1, FBLN6, FIBL6" 608548 1q24-q25 Ophthamological 937 "Macular degeneration, age-related, 3, 608895 (3)" "FBLN5, ARMD3" 604580 14q32.1 Ophthamological 937 "Macular degeneration, juvenile, 248200 (3)" "CNGB3, ACHM3" 605080 8q21-q22 Ophthamological 937 "Macular degeneration, X-linked atrophic (3)" "RPGR, RP3, CRD, RP15, COD1" 312610 Xp21.1 Ophthamological 2937 Macular dystrophy (3) "RDS, RP7, PRPH2, PRPH, AVMD, AOFMD" 179605 6p21.1-cen Ophthamological 2937 "Macular dystrophy, age-related, 2, 153800 (3)" "ABCA4, ABCR, STGD1, FFM, RP19" 601691 1p21-p13 Ophthamological 2937 "Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110 (3)" "ELOVL4, ADMD, STGD2, STGD3" 605512 6q14 Ophthamological 2937 "Macular dystrophy, vitelliform, 608161 (3)" "RDS, RP7, PRPH2, PRPH, AVMD, AOFMD" 179605 6p21.1-cen Ophthamological 2937 "Macular dystrophy, vitelliform type, 153700 (3)" VMD2 607854 11q13 Ophthamological 938 "Maculopathy, bull's-eye, 153870 (3)" VMD2 607854 11q13 Ophthamological 939 "Major depressive disorder and accelerated response to antidepressant drug treatment, 608616 (3)" "FKBP5, FKBP51" 602623 6p21.3-p21.2 Psychiatric 940 "Malaria, cerebral, reduced risk of, 248310 (3)" CD36 173510 7q11.2 Immunological 940 "Malaria, cerebral, susceptibility to, 248310 (3)" CD36 173510 7q11.2 Immunological 940 "Malaria, cerebral, susceptibility to (3)" ICAM1 147840 19p13.3-p13.2 Immunological 940 "Malaria, cerebral, susceptibility to (3)" "TNF, TNFA" 191160 6p21.3 Immunological 940 "Malaria, resistance to, 248310 (3)" "GYPC, GE, GPC" 110750 2q14-q21 Immunological 940 "Malaria, resistance to, 248310 (3)" "NOS2A, NOS2" 163730 17cen-q11.2 Immunological 942 "Malignant hyperthermia susceptibility 1, 145600 (3)" "RYR1, MHS, CCO" 180901 19q13.1 Neurological 942 "Malignant hyperthermia susceptibility 5, 601887 (3)" "CACNA1S, CACNL1A3, CCHL1A3" 114208 1q32 Neurological 943 "Malonyl-CoA decarboxylase deficiency, 248360 (3)" "MLYCD, MCD" 606761 16q24 Metabolic 944 MALT lymphoma (3) "MALT1, MLT" 604860 18q21 Cancer 945 "Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)" "ZMPSTE24, FACE1, STE24, MADB" 606480 1p34 multiple 947 "Mannosidosis, alpha-, types I and II, 248500 (3)" "MAN2B1, MANB" 609458 19cen-q12 Metabolic 947 "Mannosidosis, beta, 248510 (3)" "MANBA, MANB1" 609489 4q22-q25 Metabolic 948 "Maple syrup urine disease, type Ia, 248600 (3)" "BCKDHA, MSUD1" 608348 19q13.1-q13.2 Metabolic 948 "Maple syrup urine disease, type Ib (3)" "BCKDHB, E1B" 248611 6p22-p21 Metabolic 948 "Maple syrup urine disease, type II (3)" "DBT, BCATE2" 248610 1p31 Metabolic 948 "Maple syrup urine disease, type III, 248600 (3)" "DLD, LAD, PHE3" 238331 7q31-q32 Metabolic 950 "Marfan syndrome, 154700 (3)" "FBN1, MFS1, WMS" 134797 15q21.1 Connective tissue disorder 950 "Marfan syndrome, atypical (3)" COL1A2 120160 7q22.1 Connective tissue disorder 952 "Maroteaux-Lamy syndrome, several forms (3)" "ARSB, MPS6" 253200 5q11-q13 Metabolic 953 "Marshall syndrome, 154780 (3)" "COL11A1, STL2" 120280 1p21 multiple 955 "MASA syndrome, 303350 (3)" "L1CAM, CAML1, HSAS1" 308840 Xq28 multiple 956 MASP2 deficiency (3) MASP2 605102 1p36.3-p36.2 Immunological 957 "MASS syndrome, 604308 (3)" "FBN1, MFS1, WMS" 134797 15q21.1 Connective tissue disorder 958 Mast cell leukemia (3) "KIT, PBT" 164920 4q12 Cancer 959 Mastocytosis with associated hematologic disorder (3) "KIT, PBT" 164920 4q12 Immunological 960 "Mast syndrome, 248900 (3)" "ACP33, MAST, SPG21" 608181 15q21-q22 Neurological 961 "May-Hegglin anomaly, 155100 (3)" "MYH9, MHA, FTNS, DFNA17" 160775 22q11.2 Hematological 962 "McArdle disease, 232600 (3)" PYGM 608455 11q13 Metabolic 963 "McCune-Albright syndrome, 174800 (3)" "GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO" 139320 20q13.2 multiple 964 "McKusick-Kaufman syndrome, 236700 (3)" "MKKS, HMCS, KMS, MKS, BBS6" 604896 20p12 Developmental 965 McLeod syndrome (3) XK 314850 Xp21.2-p21.1 Hematological 965 McLeod syndrome with neuroacanthosis (3) XK 314850 Xp21.2-p21.1 Hematological 969 "Medullary cystic kidney disease 2, 603860 (3)" "UMOD, HNFJ, FJHN, MCKD2, ADMCKD2" 191845 16p12.3 Renal 2969 "Medullary thyroid carcinoma, 155240 (3)" "RET, MEN2A" 164761 10q11.2 Cancer 2969 "Medullary thyroid carcinoma, familial, 155240 (3)" "NTRK1, TRKA, MTC" 191315 1q21-q22 Cancer 970 "Medulloblastoma, 155255 (3)" PTCH2 603673 1p32 Cancer 970 "Medulloblastoma, desmoplastic, 155255 (3)" "SUFU, SUFUXL, SUFUH" 607035 10q24-q25 Cancer 971 "Meesmann corneal dystrophy, 122100 (3)" KRT12 601687 17q12 Ophthamological 971 "Meesmann corneal dystrophy, 122100 (3)" KRT3 148043 12q13 Ophthamological 973 "Megakaryoblastic leukemia, acute (3)" "MKL1, AMKL, MAL" 606078 22q13 Cancer 974 "Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)" "MLC1, LVM, VL" 605908 22qter Neurological 975 "Megaloblastic anemia-1, Finnish type, 261100 (3)" "CUBN, IFCR, MGA1" 602997 10p12.1 Hematological 975 "Megaloblastic anemia-1, Norwegian type, 261100 (3)" AMN 605799 14q32 Hematological 978 Melanoma (3) "CDK4, CMM3" 123829 12q14 Cancer 978 "Melanoma and neural system tumor syndrome, 155755 (3)" "CDKN2A, MTS1, P16, MLM, CMM2" 600160 9p21 Cancer 978 "Melanoma, cutaneous malignant, 2, 155601 (3)" "CDKN2A, MTS1, P16, MLM, CMM2" 600160 9p21 Cancer 978 "Melanoma, cutaneous malignant, susceptibility to (3)" XRCC3 600675 14q32.3 Cancer 978 "Melanoma, malignant sporadic (3)" "STK11, PJS, LKB1" 602216 19p13.3 Cancer 978 "Melanoma, melignant, somatic (3)" BRAF 164757 7q34 Cancer 979 "Meleda disease, 248300 (3)" "SLURP1, MDM" 606119 8qter Dermatological 981 "Melnick-Needles syndrome, 309350 (3)" "FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS" 300017 Xq28 Skeletal 982 "Melorheostosis with osteopoikilosis, 155950 (3)" "LEMD3, MAN1" 607844 12q14 Developmental 984 "Memory impairment, susceptibility to (3)" BDNF 113505 11p13 Neurological 985 Meniere disease 156000 (3) () "COCH, DFNA9" 603196 14q12-q13 Neurological 986 "Meningioma, 607174 (3)" "MN1, MGCR" 156100 22q12.3-qter Cancer 986 "Meningioma, 607174 (3)" "PTEN, MMAC1" 601728 10q23.31 Cancer 986 "Meningioma, NF2-related, somatic, 607174 (3)" NF2 607379 22q12.2 Cancer 986 "Meningioma, SIS-related (3)" "PDGFB, SIS" 190040 22q12.3-q13.1 Cancer 987 "Meningococcal disease, susceptibility to (3)" "MBL2, MBL, MBP1" 154545 10q11.2-q21 Immunological 988 "Menkes disease, 309400 (3)" "ATP7A, MNK, MK, OHS" 300011 Xq12-q13 Neurological 990 "Mental retardation, nonsyndromic, autosomal recessive, 249500 (3)" "PRSS12, BSSP3" 606709 4q25-q26 Neurological 990 "Mental retardation, nonsyndromic, autosomal recessive, 2A, 607417 (3)" "CRBN, MRT2A" 609262 3p26.2 Neurological 990 "Mental retardation, X-linked, 300425 (3)" "NLGN4, KIAA1260, AUTSX2" 300427 Xp22.33 Neurological 990 "Mental retardation, X-linked, 300458 (3)" "MECP2, RTT, PPMX, MRX16, MRX79" 300005 Xq28 Neurological 990 "Mental retardation, X-linked 30, 300558 (3)" "PAK3, MRX30, MRX47" 300142 Xq21.3-q24 Neurological 990 "Mental retardation, X-linked, 34, 300426 (3)" "IL1RAPL, MRX34" 300206 Xp22.1-p21.3 Neurological 990 "Mental retardation, X-linked 36, 300430 (3)" "ARX, ISSX, PRTS, MRXS1, MRX36, MRX54" 300382 Xp22.13 Neurological 990 "Mental retardation, X-linked (3)" "SLC6A8, CRTR" 300036 Xq28 Neurological 990 "Mental retardation, X-linked-44, 300501 (3)" "FTSJ1, JM23, SPB1, MRX44, MRX9" 300499 Xp11.23 Neurological 990 "Mental retardation, X-linked 45, 300498 (3)" "ZNF81, MRX45" 314998 Xp22.1-p11 Neurological 990 "Mental retardation, X-linked 54, 300419 (3)" "ARX, ISSX, PRTS, MRXS1, MRX36, MRX54" 300382 Xp22.13 Neurological 990 "Mental retardation, X-linked 58, 300218 (3)" "TM4SF2, MXS1, A15" 300096 Xq11 Neurological 990 "Mental retardation, X-linked, 60, 300486 (3)" OPHN1 300127 Xq12 Neurological 990 "Mental retardation, X-linked-9, 309549 (3)" "FTSJ1, JM23, SPB1, MRX44, MRX9" 300499 Xp11.23 Neurological 990 "Mental retardation, X-linked, FRAXE type (3)" "FMR2, FRAXE, MRX2" 309548 Xq28 Neurological 990 "Mental retardation, X-linked, JARID1C-related, 300534 (3)" "SMCX, MRXJ, DXS1272E, XE169, JARID1C" 314690 Xp11.22-p11.21 Neurological 990 "Mental retardation, X-linked nonspecific, 309541 (3)" "GDI1, RABGD1A, MRX41, MRX48" 300104 Xq28 Neurological 990 "Mental retardation, X-linked nonspecific, 63, 300387 (3)" "FACL4, ACS4, MRX63" 300157 Xq22.3 Neurological 990 "Mental retardation, X-linked nonspecific, type 19 (3)" "RPS6KA3, RSK2, MRX19" 300075 Xp22.2-p22.1 Neurological 990 "Mental retardation, X-linked nonspecific, type 46, 300436 (3)" "ARHGEF6, MRX46, COOL2" 300267 Xq26 Neurological 990 "Mental retardation, X-linked nonsyndromic (3)" AGTR2 300034 Xq22-q23 Neurological 990 "Mental retardation, X-linked nonsyndromic (3)" "FGD1, FGDY, AAS" 305400 Xp11.21 Neurological 990 "Mental retardation, X-linked nonsyndromic (3)" ZNF41 314995 Xp22.1-cen Neurological 990 "Mental retardation, X-linked nonsyndromic, DLG3-related (3)" "DLG3, NEDLG, SAP102, MRX" 300189 Xq13.1 Neurological 990 "Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)" "SMS, SRS, MRSR" 300105 Xp22.1 Neurological 990 "Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3)" "SOX3, MRGH" 313430 Xq26.3 Neurological 990 "Mental retardation, X-linked, with progressive spasticity, 300279 (3)" "MECP2, RTT, PPMX, MRX16, MRX79" 300005 Xq28 Neurological 990 "Mental retardation, X-linked, with seizures and carrier manifestations, 300397 (3)" "SLC6A8, CRTR" 300036 Xq28 Neurological 991 Mephenytoin poor metabolizer (3) "CYP2C, CYP2C19" 124020 10q24.1-q24.3 Metabolic 992 "Merkel cell carcinoma, somatic (3)" "SDHD, PGL1" 602690 11q23 Cancer 993 "Mesangial sclerosis, isolated diffuse, 256370 (3)" WT1 607102 11p13 Renal 995 Mesothelioma (3) BCL10 603517 1p22 Cancer 996 "Metachromatic leukodystrophy, 250100 (3)" ARSA 607574 22q13.31-qter Neurological 996 Metachromatic leukodystrophy due to deficiency of SAP-1 (3) "PSAP, SAP1" 176801 10q22.1 Neurological 997 "Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3)" "PTHR1, PTHR" 168468 3p22-p21.1 Connective tissue disorder 997 "Metaphyseal chondrodysplasia, Schmid type (3)" COL10A1 120110 6q21-q22.3 Connective tissue disorder 997 "Metaphyseal dysplasia without hypotrichosis, 250460 (3)" "RMRP, RMRPR, CHH" 157660 9p21-p12 Connective tissue disorder 999 Methemoglobinemia due to cytochrome b5 deficiency (3) CYB5 250790 18q23 Hematological 999 "Methemoglobinemias, alpha- (3)" HBA1 141800 16pter-p13.3 Hematological 999 "Methemoglobinemias, beta- (3)" HBB 141900 11p15.5 Hematological 999 "Methemoglobinemia, type I (3)" DIA1 250800 22q13.31-qter Hematological 999 "Methemoglobinemia, type II (3)" DIA1 250800 22q13.31-qter Hematological 1001 "Methionine adenosyltransferase deficiency, autosomal recessive (3)" "MAT1A, MATA1, SAMS1" 250850 10q22 Metabolic 1002 "Methylcobalamin deficiency, cblG type, 250940 (3)" MTR 156570 1q43 Metabolic 1003 Methylmalonate semialdehyde dehydrogenase deficiency (3) "ALDH6A1, MMSDH" 603178 14q24.3 Metabolic 1004 "Methylmalonic aciduria, mut(0) type, 251000 (3)" "MUT, MCM" 609058 6p21 Metabolic 1004 "Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)" MMAA 607481 4q31.1-q31.2 Metabolic 1004 "Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)" MMAB 607568 12q24 Metabolic 1005 Mevalonicaciduria (3) "MVK, MVLK" 251170 12q24 Metabolic 1006 "MHC class II deficiency, complementation group B, 209920 (3)" RFXANK 603200 19p12 Immunological 1007 "Microcephaly, Amish type, 607196 (3)" "SLC25A19, DNC, MUP1, MCPHA" 606521 17q25.3 Neurological 1007 "Microcephaly, autosomal recessive 1, 251200 (3)" MCPH1 607117 8p23 Neurological 1007 "Microcephaly, primary autosomal recessive, 3, 604804 (3)" "CDK5RAP2, KIAA1633, MCPH3" 608201 9q33.3 Neurological 1007 "Microcephaly, primary autosomal recessive, 5, 608716 (3)" "ASPM, MCPH5" 605481 1q31 Neurological 1007 "Microcephaly, primary autosomal recessive, 6, 608393 (3)" "CEMPJ, CPAP, MCPH6" 609279 13q12.2 Neurological 1009 "Microcoria-congenital nephrosis syndrome, 609049 (3)" "LAMB2, LAMS" 150325 3p21 Ophthamological 1011 Micropenis (3) LHCGR 152790 2p21 Renal 1012 "Microphthalmia, cataracts, and iris abnormalities (3)" "CHX10, HOX10" 142993 14q24.3 Ophthamological 1012 "Microphthalmia, SIX6-related (3)" SIX6 606326 14q23 Ophthamological 1012 "Microphthalmia with associated anomalies 2, 300412 (3)" "BCOR, KIAA1575, MAA2, ANOP2" 300485 Xp11.4 Ophthamological 1013 "Migraine, familial hemiplegic, 2, 602481 (3)" "ATP1A2, FHM2, MHP2" 182340 1q21-q23 Neurological 1013 "Migraine, resistance to, 157300 (3)" EDNRA 131243 4q31.2 Neurological 1013 "Migraine, susceptibility to, 157300 (3)" "ESR1, ESR" 133430 6q25.1 Neurological 1013 "Migraine without aura, susceptibility to, 157300 (3)" "TNF, TNFA" 191160 6p21.3 Neurological 1014 "Miller-Dieker lissencephaly, 247200 (3)" "YWHAE, MDCR, MDS" 605066 17p13.3 multiple 1016 "Mitochondrial complex I deficiency, 252010 (3)" NDUFS1 157655 2q33-q34 multiple 1016 "Mitochondrial complex I deficiency, 252010 (3)" NDUFS2 602985 1q23 multiple 1016 "Mitochondrial complex I deficiency, 252010 (3)" "NDUFS4, AQDQ" 602694 5q11.1 multiple 1016 "Mitochondrial complex I deficiency, 252010 (3)" "NDUFV1, UQOR1" 161015 11q13 multiple 1016 "Mitochondrial complex III deficiency, 124000 (3)" "BCS1L, FLNMS, GRACILE" 603647 2q33 multiple 1016 "Mitochondrial complex III deficiency, 124000 (3)" "UQCRB, UQBP, QPC" 191330 8q22 multiple 3016 "Mitochondrial DNA depletion myopathy, 251880 (3)" TK2 188250 16q22 Muscular 5016 "Mitochondrial DNA depletion syndrome, 251880 (3)" SUCLA2 603921 13q12.2-q13 multiple 5016 "Mitochondrial DNA-depletion syndrome, hepatocerebral form, 251880 (3)" "DGUOK, DGK" 601465 2p13 multiple 7016 "Mitochondrial myopathy and sideroblastic anemia, 600462 (3)" "PUS1, MLASA" 608109 12q24.33 multiple 1016 "Mitochondrial respiratory chain complex II deficiency, 252011 (3)" "SDHA, SDH2, SDHF" 600857 5p15 multiple 1018 "Miyoshi myopathy, 254130 (3)" "DYSF, LGMD2B" 603009 2p13.3-p13.1 Muscular 1020 MODY5 with nephron agenesis (3) "TCF2, HNF2" 189907 17cen-q21.3 Endocrine 1020 MODY5 with non-diabetic renal disease and Mullerian aplasia (3) "TCF2, HNF2" 189907 17cen-q21.3 Endocrine 1020 "MODY, one form, 125850 (3)" INS 176730 11p15.5 Endocrine 1020 "MODY, type I, 125850 (3)" "HNF4A, TCF14, MODY1" 600281 20q12-q13.1 Endocrine 1020 "MODY, type II, 125851 (3)" GCK 138079 7p15-p13 Endocrine 1020 "MODY, type III, 600496 (3)" "TCF1, HNF1A, MODY3" 142410 12q24.2 Endocrine 1020 "MODY, type IV (3)" IPF1 600733 13q12.1 Endocrine 1020 "MODY, type V, 604284 (3)" "TCF2, HNF2" 189907 17cen-q21.3 Endocrine 1022 "Mohr-Tranebjaerg syndrome, 304700 (3)" "TIMM8A, DFN1, DDP, MTS, DDP1" 300356 Xq22 Neurological 1023 "Molybdenum cofactor deficiency, type A, 252150 (3)" "MOCS1, MOCOD" 603707 6p21.3 Metabolic 1023 "Molybdenum cofactor deficiency, type B, 252150 (3)" "MOCS2, MPTS" 603708 5q11 Metabolic 1023 "Molybdenum cofactor deficiency, type C, 252150 (3)" "GPH, KIAA1385, GEPH" 603930 14q24 Metabolic 1024 "Monilethrix, 158000 (3)" "KRTHB1, HB1" 602153 12q13 Dermatological 1024 "Monilethrix, 158000 (3)" "KRTHB6, HB6" 601928 12q13 Dermatological 1026 Morning glory disc anomaly (3) "PAX6, AN2, MGDA" 607108 11p13 Skeletal 1028 "Mowat-Wilson syndrome, 235730 (3)" "ZFHX1B, SMADIP1, SIP1" 605802 2q22 Developmental 1029 Moyamoya disease 3 (3) MYMY3 608796 8q24 Neurological 1030 "Muckle-Wells syndrome, 191900 (3)" "CIAS1, C1orf7, FCU, FCAS" 606416 1q44 multiple 1031 Mucoepidermoid salivary gland carcinoma (3) "MAML2, MAM3" 607537 11q21 Cancer 1031 Mucoepidermoid salivary gland carcinoma (3) "MECT1, KIAA0616" 607536 19p13 Cancer 1032 "Mucolipidosis IIIA, 252600 (3)" "GNPTAB, GNPTA" 607840 4q21-q23 Metabolic 1032 "Mucolipidosis IIIC, 252605 (3)" GNPTAG 607838 16p Metabolic 1032 "Mucolipidosis IV, 252650 (3)" "MCOLN1, ML4" 605248 19p13.3-p13.2 Metabolic 1033 "Mucopolysaccharidosis Ih, 607014 (3)" "IDUA, IDA" 252800 4p16.3 Metabolic 1033 "Mucopolysaccharidosis Ih/s, 607015 (3)" "IDUA, IDA" 252800 4p16.3 Metabolic 1033 Mucopolysaccharidosis II (3) "IDS, MPS2, SIDS" 309900 Xq28 Metabolic 1033 "Mucopolysaccharidosis Is, 607016 (3)" "IDUA, IDA" 252800 4p16.3 Metabolic 1033 Mucopolysaccharidosis IVA (3) "GALNS, MPS4A" 253000 16q24.3 Metabolic 1033 Mucopolysaccharidosis IVB (3) GLB1 230500 3p21.33 Metabolic 1033 "Mucopolysaccharidosis type IIID, 252940 (3)" "GNS, G6S" 607664 12q14 Metabolic 1033 "Mucopolysaccharidosis type IX, 601492 (3)" HYAL1 607071 3p21.3-p21.2 Metabolic 1033 Mucopolysaccharidosis VII (3) "GUSB, MPS7" 253220 7q21.11 Metabolic 1034 "Muenke syndrome, 602849 (3)" "FGFR3, ACH" 134934 4p16.3 Skeletal 1035 "Muir-Torre syndrome, 158320 (3)" "MLH1, COCA2, HNPCC2" 120436 3p21.3 Cancer 1035 "Muir-Torre syndrome, 158320 (3)" "MSH2, COCA1, FCC1, HNPCC1" 609309 2p22-p21 Cancer 1036 "Mulibrey nanism, 253250 (3)" "TRIM37, MUL, KIAA0898" 605073 17q22-q23 multiple 3037 "Multiple cutaneous and uterine leiomyomata, 150800 (3)" FH 136850 1q42.1 Cancer 1037 Multiple endocrine neoplasia I (3) MEN1 131100 11q13 Cancer 1037 "Multiple endocrine neoplasia IIA, 171400 (3)" "RET, MEN2A" 164761 10q11.2 Cancer 1037 "Multiple endocrine neoplasia IIB, 162300 (3)" "RET, MEN2A" 164761 10q11.2 Cancer 5037 Multiple malignancy syndrome (3) "TP53, P53, LFS1" 191170 17p13.1 Cancer 9037 Multiple myeloma (3) "IRF4, LSIRF" 601900 6p25-p23 Cancer 9037 "Multiple myeloma, resistance to, 254500 (3)" LIG4 601837 13q22-q34 Cancer 9038 "Multiple sclerosis, susceptibility to, 126200 (3)" "MHC2TA, C2TA" 600005 16p13 Neurological 9038 "Multiple sclerosis, susceptibility to, 126200 (3)" "PTPRC, CD45, LCA" 151460 1q31-q32 Neurological 9039 "Multiple sulfatase deficiency, 272200 (3)" "SUMF1, FGE" 607939 3p26 Metabolic 1038 "Muscle-eye-brain disease, 253280 (3)" "POMGNT1, MEB" 606822 1p34-p33 multiple 1039 Muscle glycogenosis (3) PHKA1 311870 Xq13 Muscular 1039 Muscle hypertrophy (3) "GDF8, MSTN" 601788 2q32.2 Muscular 1040 "Muscular dystrophy, congenital, 1C (3)" "FKRP, MDC1C, LGMD2I" 606596 19q13.3 Muscular 1040 "Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)" "LAMA2, LAMM" 156225 6q22-q23 Muscular 1040 "Muscular dystrophy, congenital merosin-deficient, 607855 (3)" "LAMA2, LAMM" 156225 6q22-q23 Muscular 1040 "Muscular dystrophy, congenital, type 1D, 608840 (3)" "LARGE, KIAA0609, MDC1D" 603590 22q12.3-q13.1 Muscular 1040 "Muscular dystrophy, Fukuyama congenital, 253800 (3)" FCMD 607440 9q31 Muscular 1040 "Muscular dystrophy, limb-girdle, type 1A, 159000 (3)" "TTID, MYOT" 604103 5q31 Muscular 1040 "Muscular dystrophy, limb-girdle, type 2A, 253600 (3)" "CAPN3, CANP3" 114240 15q15.1-q21.1 Muscular 1040 "Muscular dystrophy, limb-girdle, type 2B, 253601 (3)" "DYSF, LGMD2B" 603009 2p13.3-p13.1 Muscular 1040 "Muscular dystrophy, limb-girdle, type 2C, 253700 (3)" "SGCG, LGMD2C, DMDA1, SCG3" 608896 13q12 Muscular 1040 "Muscular dystrophy, limb-girdle, type 2D, 608099 (3)" "SGCA, ADL, DAG2, LGMD2D, DMDA2" 600119 17q12-q21.33 Muscular 1040 "Muscular dystrophy, limb-girdle, type 2E, 604286 (3)" "SGCB, LGMD2E" 600900 4q12 Muscular 1040 "Muscular dystrophy, limb-girdle, type 2F, 601287 (3)" "SGCD, SGD, LGMD2F, CMD1L" 601411 5q33 Muscular 1040 "Muscular dystrophy, limb-girdle, type 2G, 601954 (3)" "TCAP, LGMD2G, CMD1N" 604488 17q12 Muscular 1040 "Muscular dystrophy, limb-girdle, type 2H, 254110 (3)" "TRIM32, HT2A, LGMD2H" 602290 9q31-q34.1 Muscular 1040 "Muscular dystrophy, limb-girdle, type 2I, 607155 (3)" "FKRP, MDC1C, LGMD2I" 606596 19q13.3 Muscular 1040 "Muscular dystrophy, limb-girdle, type 2J, 608807 (3)" "TTN, CMD1G, TMD, LGMD2J" 188840 2q24.3 Muscular 1040 "Muscular dystrophy, limb-girdle, type 2K, 609308 (3)" POMT1 607423 9q34.1 Muscular 1040 "Muscular dystrophy, limb-girdle, type IC, 607801 (3)" "CAV3, LGMD1C" 601253 3p25 Muscular 1040 "Muscular dystrophy, rigid spine, 1, 602771 (3)" "SEPN1, SELN, RSMD1" 606210 1p36-p35 Muscular 1040 "Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)" "PLEC1, PLTN, EBS1" 601282 8q24 Muscular 1041 "Myasthenia, familial infantile, 1, 605809 (3)" "CMS1A1, FIM1" 605809 17p13 Muscular 1042 Myasthenic syndrome (3) "SCN4A, HYPP, NAC1A" 603967 17q23.1-q25.3 Muscular 1042 "Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)" "CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D" 100710 17p12-p11 Muscular 1042 "Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)" "CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D" 100725 17p13-p12 Muscular 1042 "Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)" "RAPSN, CMS1D, CMS1E" 601592 11p11.2-p11.1 Muscular 1042 "Myasthenic syndrome, congenital, associated with episodic apnea, 254210 (3)" "CHAT, CMS1A2" 118490 10q11.2 Muscular 1042 "Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931 (3)" "RAPSN, CMS1D, CMS1E" 601592 11p11.2-p11.1 Muscular 1042 "Myasthenic syndrome, fast-channel congenital, 608930 (3)" "CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS" 100690 2q24-q32 Muscular 1042 "Myasthenic syndrome, fast-channel congenital, 608930 (3)" "CHRND, ACHRD, SCCMS, CMS2A, FCCMS" 100720 2q33-q34 Muscular 1042 "Myasthenic syndrome, fast-channel congenital, 608930 (3)" "CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D" 100725 17p13-p12 Muscular 1042 "Myasthenic syndrome, slow-channel congenital, 601462 (3)" "CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS" 100690 2q24-q32 Muscular 1042 "Myasthenic syndrome, slow-channel congenital, 601462 (3)" "CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D" 100710 17p12-p11 Muscular 1042 "Myasthenic syndrome, slow-channel congenital, 601462 (3)" "CHRND, ACHRD, SCCMS, CMS2A, FCCMS" 100720 2q33-q34 Muscular 1042 "Myasthenic syndrome, slow-channel congenital, 601462 (3)" "CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D" 100725 17p13-p12 Muscular 1043 "Mycobacterial and salmonella infections, susceptibility to, 209950 (3)" IL12RB1 601604 19p13.1 Immunological 1043 "Mycobacterial infection, atypical, familial disseminated, 209950 (3)" IFNGR1 107470 6q23-q24 Immunological 1043 "Mycobacterial infection, atypical, familial disseminated, 209950 (3)" "IFNGR2, IFNGT1, IFGR2" 147569 21q22.1-q22.2 Immunological 1043 "Mycobacterial infection, atypical, familial disseminated, 209950 (3)" STAT1 600555 2q32.2-q32.3 Immunological 1043 "Mycobacterium tuberculosis, suceptibility to infection by, 607948 (3)" "NRAMP1, NRAMP" 600266 2q35 Immunological 1045 Myelodysplasia syndrome-1 (3) MDS1 600049 3q26 Muscular 1045 Myelodysplastic syndrome (3) "FACL6, ACS2" 604443 5q31 Muscular 1045 "Myelodysplastic syndrome, preleukemic (3)" "IRF1, MAR" 147575 5q31.1 Muscular 1046 "Myelofibrosis, idiopathic, 254450 (3)" JAK2 147796 9p24 Hematological 1047 "Myelogenous leukemia, acute (3)" "FACL6, ACS2" 604443 5q31 Cancer 1047 "Myelogenous leukemia, acute (3)" "IRF1, MAR" 147575 5q31.1 Cancer 1047 "Myeloid leukemia, acute, M4Eo subtype (3)" CBFB 121360 16q22 Cancer 1047 "Myeloid malignancy, predisposition to (3)" "CSF1R, FMS" 164770 5q33.2-q33.3 Cancer 1049 "Myelokathexis, isolated (3)" "CXCR4, D2S201E, NPY3R, WHIM" 162643 2q21 Immunological 1050 "Myelomonocytic leukemia, chronic (3)" "PDGFRB, PDGFR" 173410 5q31-q32 Cancer 1051 "Myeloperoxidase deficiency, 254600 (3)" MPO 606989 17q23.1 Immunological 1052 "Myeloproliferative disorder with eosinophilia, 131440 (3)" "PDGFRB, PDGFR" 173410 5q31-q32 Cancer 1053 Myoadenylate deaminase deficiency (3) AMPD1 102770 1p21-p13 Muscular 1054 "Myocardial infarction, decreased susceptibility to (3)" F7 227500 13q34 Cardiovascular 1054 Myocardial infarction susceptibility (3) "APOE, AD2" 107741 19q13.2 Cardiovascular 1054 "Myocardial infarction, susceptibility to (3)" "ACE, DCP1, ACE1" 106180 17q23 Cardiovascular 1054 "Myocardial infarction, susceptibility to (3)" "ALOX5AP, FLAP" 603700 13q12 Cardiovascular 1054 "Myocardial infarction, susceptibility to (3)" LGALS2 150571 22q13.1 Cardiovascular 1054 "Myocardial infarction, susceptibility to (3)" "LTA, TNFB" 153440 6p21.3 Cardiovascular 1054 "Myocardial infarction, susceptibility to (3)" "OLR1, LOX1" 602601 12p13-p12 Cardiovascular 1054 "Myocardial infarction, susceptibility to (3)" "THBD, THRM" 188040 20p11.2 Cardiovascular 1054 "Myocardial infarction, susceptibility to, 608446 (3)" "GCLM, GLCLR" 601176 1p22.1 Cardiovascular 1054 "Myocardial infarction, susceptibility to, 608446 (3)" "TNFSF4, GP34, OX4OL" 603594 1q25 Cardiovascular 1055 "Myoclonic epilepsy, juvenile, 1, 254770 (3)" "EFHC1, FLJ10466, EJM1" 608815 6p12-p11 Neurological 1055 "Myoclonic epilepsy, severe, of infancy, 607208 (3)" "GABRG2, GEFSP3, CAE2, ECA2" 137164 5q31.1-q33.1 Neurological 1055 "Myoclonic epilepsy with mental retardation and spasticity, 300432 (3)" "ARX, ISSX, PRTS, MRXS1, MRX36, MRX54" 300382 Xp22.13 Neurological 1056 Myoglobinuria/hemolysis due to PGK deficiency (3) "PGK1, PGKA" 311800 Xq13 Metabolic 1057 "Myokymia with neonatal epilepsy, 606437 (3)" "KCNQ2, EBN1" 602235 20q13.3 Neurological 1058 "Myoneurogastrointestinal encephalomyopathy syndrome, 603041 (3)" ECGF1 131222 22q13.32-qter multiple 1059 "Myopathy, actin, congenital, with cores (3)" "ACTA1, ASMA, NEM3, NEM1" 102610 1q42.1 Muscular 1059 "Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3)" "ACTA1, ASMA, NEM3, NEM1" 102610 1q42.1 Muscular 1059 "Myopathy, cardioskeletal, desmin-related, with cataract, 608810 (3)" "CRYAB, CRYA2, CTPP2" 123590 11q22.3-q23.1 Muscular 1059 "Myopathy, centronuclear, 160150 (3)" MYF6 159991 12q21 Muscular 1059 "Myopathy, congenital (3)" ITGA7 600536 12q13 Muscular 1059 "Myopathy, desmin-related, cardioskeletal, 601419 (3)" "DES, CMD1I" 125660 2q35 Muscular 1059 "Myopathy, distal, with anterior tibial onset, 606768 (3)" "DYSF, LGMD2B" 603009 2p13.3-p13.1 Muscular 1059 "Myopathy, distal, with decreased caveolin 3 (3)" "CAV3, LGMD1C" 601253 3p25 Muscular 1059 "Myopathy due to CPT II deficiency, 255110 (3)" CPT2 600650 1p32 Muscular 1059 Myopathy due to phosphoglycerate mutase deficiency (3) "PGAM2, PGAMM" 261670 7p13-p12.3 Muscular 1059 "Myopathy, Laing distal, 160500 (3)" "MYH7, CMH1, MPD1" 160760 14q12 Muscular 1059 "Myopathy, myosin storage, 608358 (3)" "MYH7, CMH1, MPD1" 160760 14q12 Muscular 1059 "Myopathy, nemaline, 3, 161800 (3)" "ACTA1, ASMA, NEM3, NEM1" 102610 1q42.1 Muscular 1061 "Myotilinopathy, 609200 (3)" "TTID, MYOT" 604103 5q31 Muscular 1062 "Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)" "SCN4A, HYPP, NAC1A" 603967 17q23.1-q25.3 Muscular 1062 "Myotonia congenita, dominant, 160800 (3)" CLCN1 118425 7q35 Muscular 1062 "Myotonia congenita, recessive, 255700 (3)" CLCN1 118425 7q35 Muscular 1062 "Myotonia levior, recessive (3)" CLCN1 118425 7q35 Muscular 1063 "Myotonic dystrophy, 160900 (3)" "DMPK, DM, DMK" 605377 19q13.2-q13.3 Muscular 1063 "Myotonic dystrophy, type 2, 602668 (3)" "ZNF9, CNBP1, DM2, PROMM" 116955 3q13.3-q24 Muscular 1064 "Myotubular myopathy, X-linked, 310400 (3)" "MTM1, MTMX" 300415 Xq28 Muscular 1065 Myxoid liposarcoma (3) "DDIT3, GADD153, CHOP10" 126337 12q13.1-q13.2 Cancer 1066 "Myxoma, intracardiac, 255960 (3)" "PRKAR1A, TSE1, CNC1, CAR" 188830 17q23-q24 Cardiovascular 1067 "N-acetylglutamate synthase deficiency, 237310 (3)" NAGS 608300 17q21.31 Metabolic 1070 "Nail-patella syndrome, 161200 (3)" "LMX1B, NPS1" 602575 9q34.1 multiple 1070 "Nail-patella syndrome with open-angle glaucoma, 137750 (3)" "LMX1B, NPS1" 602575 9q34.1 multiple 1071 "Nance-Horan syndrome, 302350 (3)" NHS 300457 Xp22.13 Ophthamological 1073 "Narcolepsy, 161400 (3)" "HCRT, OX" 602358 17q21 Psychiatric 1074 "Nasopharyngeal carcinoma, 161550 (3)" "TP53, P53, LFS1" 191170 17p13.1 Cancer 1075 "Nasu-Hakola disease, 221770 (3)" TREM2 605086 6p21.2 Bone 1075 "Nasu-Hakola disease, 221770 (3)" "TYROBP, PLOSL, DAP12" 604142 19q13.1 Bone 1077 "Naxos disease, 601214 (3)" "JUP, DP3, PDGB" 173325 17q21 multiple 1078 "Nemaline myopathy, 161800 (3)" "TPM2, TMSB, AMCD1, DA1" 190990 9p13.2-p13.1 Muscular 1078 "Nemaline myopathy 1, autosomal dominant, 161800 (3)" "TPM3, NEM1" 191030 1q22-q23 Muscular 1078 "Nemaline myopathy 2, autosomal recessive, 256030 (3)" "NEB, NEM2" 161650 2q22 Muscular 1078 "Nemaline myopathy, Amish type, 605355 (3)" "TNNT1, ANM" 191041 19q13.4 Muscular 3079 "Neonatal ichthyosis-sclerosing cholangitis syndrome, 607626 (3)" "CLDN1, SEMP1" 603718 3q28-q29 multiple 1080 "Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)" "AVPR2, DIR, DI1, ADHR" 300538 Xq28 Renal 1081 "Nephrolithiasis, type I, 310468 (3)" "CLCN5, CLCK2, NPHL2, DENTS" 300008 Xp11.22 Renal 1081 "Nephrolithiasis, uric acid, susceptibility to, 605990 (3)" "ZNF365, UAN" 607818 10q21.2 Renal 1082 "Nephronophthisis 2, infantile, 602088 (3)" "INVS, INV, NPHP2, NPH2" 243305 9q31 Renal 1082 "Nephronophthisis 4, 606966 (3)" "NPHP4, SLSN4" 607215 1p36 Renal 1082 "Nephronophthisis, adolescent, 604387 (3)" "NPHP3, NPH3" 608002 3q22 Renal 1082 "Nephronophthisis, juvenile, 256100 (3)" "NPHP1, NPH1, SLSN1" 607100 2q13 Renal 1084 "Nephropathy, chronic hypocomplementemic (3)" "HF1, CFH, HUS" 134370 1q32 Renal 1085 "Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)" "CD151, PETA3, SFA1" 602243 11p15.5 Renal 1087 "Nephrosis-1, congenital, Finnish type, 256300 (3)" "NPHS1, NPHN" 602716 19q13.1 Renal 1087 "Nephrotic syndrome, steroid-resistant, 600995 (3)" "PDCN, NPHS2, SRN1" 604766 1q25-q31 Renal 1088 "Netherton syndrome, 256500 (3)" "SPINK5, LEKTI" 605010 5q32 Dermatological 1090 "Neural tube defects, maternal risk of, 601634 (3)" "MTHFD, MTHFC" 172460 14q24 Developmental 1091 "Neuroblastoma, 256700 (3)" "NME1, NM23" 156490 17q21.3 Cancer 1091 "Neuroblastoma, 256700 (3)" "PMX2B, NBPHOX, PHOX2B" 603851 4p12 Cancer 1092 "Neurodegeneration, pantothenate kinase-associated, 234200 (3)" "PANK2, NBIA1, PKAN, HARP" 606157 20p13-p12.3 Neurological 1093 "Neuroectodermal tumors, supratentorial primitive, with cafe-au-lait spots, 608623 (3)" "PMS2, PMSL2, HNPCC4" 600259 7p22 multiple 1095 "Neurofibromatosis, familial spinal, 162210 (3)" "NF1, VRNF, WSS, NFNS" 162200 17q11.2 Cancer 1096 "Neurofibromatosis-Noonan syndrome, 601321 (3)" "NF1, VRNF, WSS, NFNS" 162200 17q11.2 Cancer 1097 "Neurofibromatosis, type 1 (3)" "NF1, VRNF, WSS, NFNS" 162200 17q11.2 Cancer 1097 "Neurofibromatosis, type 2, 101000 (3)" NF2 607379 22q12.2 Cancer 1097 "Neurofibromatosis, type I, with leukemia, 162200 (3)" "MSH2, COCA1, FCC1, HNPCC1" 609309 2p22-p21 Cancer 1098 Neurofibrosarcoma (3) MXI1 600020 10q25 Cancer 1099 "Neuropathy, congenital hypomyelinating, 1, 605253 (3)" "EGR2, KROX20" 129010 10q21.1-q22.1 Neurological 1099 "Neuropathy, congenital hypomyelinating, 605253 (3)" "MPZ, CMT1B, CMTDI3, CHM, DSS" 159440 1q22 Neurological 1099 "Neuropathy, distal hereditary motor, 608634 (3)" "HSPB1, HSP27, CMT2F" 602195 7q11.23 Neurological 1099 "Neuropathy, distal hereditary motor, type II, 158590 (3)" "HSPB8, H11, E2IG1, DHMN2" 608014 12q24-qter Neurological 1099 "Neuropathy, hereditary sensory and autonomic, type 1, 162400 (3)" "SPTLC1, LBC1, SPT1, HSN1, HSAN" 605712 9q22.1-q22.3 Neurological 1099 "Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)" "NGFB, HSAN5" 162030 1p13.1 Neurological 1099 "Neuropathy, hereditary sensory, type II, 201300 (3)" HSN2 608620 12p13.33 Neurological 1099 "Neuropathy, recurrent, with pressure palsies, 162500 (3)" "PMP22, CMT1A, CMT1E, DSS" 601097 17p11.2 Neurological 1101 "Neutropenia, alloimmune neonatal (3)" "FCGR3A, CD16, IGFR3" 146740 1q23 Hematological 1101 "Neutropenia, congenital, 202700 (3)" ELA2 130130 19p13.3 Hematological 1101 "Neutropenia, severe congenital, 202700 (3)" "GFI1, ZNF163" 600871 1p22 Hematological 1101 "Neutropenia, severe congenital, X-linked, 300299 (3)" "WAS, IMD2, THC" 300392 Xp11.23-p11.22 Hematological 1102 "Neutrophil immunodeficiency syndrome, 608203 (3)" RAC2 602049 22q12.3-q13.2 Immunological 1103 "Nevo syndrome, 601451 (3)" "PLOD, PLOD1" 153454 1p36.3-p36.2 Connective tissue disorder 1104 "Nevus, epidermal, epidermolytic hyperkeratotic type, 600648 (3)" KRT10 148080 17q21-q22 Dermatological 1105 "Newfoundland rod-cone dystrophy, 607476 (3)" RLBP1 180090 15q26 Ophthamological 1106 "Nicotine addiction, protection from (3)" "CYP2A6, CYP2A3, CYP2A, P450C2A" 122720 19q13.2 Psychiatric 1106 "Nicotine addiction, susceptibility to, 188890 (3)" "CHRNA4, ENFL1" 118504 20q13.2-q13.3 Psychiatric 1106 "Nicotine dependence, susceptibility to, 188890 (3)" "GPR51, GABBR2" 607340 9q22.1 Psychiatric 1107 "Niemann-Pick disease, type A, 257200 (3)" "SMPD1, NPD" 607608 11p15.4-p15.1 Metabolic 1107 "Niemann-Pick disease, type B, 607616 (3)" "SMPD1, NPD" 607608 11p15.4-p15.1 Metabolic 1107 "Niemann-Pick disease, type C1, 257220 (3)" "NPC1, NPC" 607623 18q11-q12 Metabolic 1107 "Niemann-pick disease, type C2, 607625 (3)" "NPC2, HE1" 601015 14q24.3 Metabolic 1107 "Niemann-Pick disease, type D, 257220 (3)" "NPC1, NPC" 607623 18q11-q12 Metabolic 1110 "Night blindness, congenital stationary (3)" GNAT1 139330 3p21 Ophthamological 1110 "Night blindness, congenital stationary, type 1, 310500 (3)" "CSNB1, NYX" 300278 Xp11.4 Ophthamological 1110 "Night blindness, congenital stationary, type 3, 163500 (3)" "PDE6B, PDEB, CSNB3" 180072 4p16.3 Ophthamological 1110 "Night blindness, congenital stationary, X-linked, type 2, 300071 (3)" "CACNA1F, CSNB2" 300110 Xp11.23 Ophthamological 1110 "Night blindness, congenital stationery, rhodopsin-related (3)" "RHO, RP4, OPN2" 180380 3q21-q24 Ophthamological 1111 "Nijmegen breakage syndrome, 251260 (3)" "NBS1, NBS" 602667 8q21 multiple 1112 "Nonaka myopathy, 605820 (3)" "GNE, GLCNE, IBM2, DMRV, NM" 603824 9p12-p11 Muscular 1113 "Noncompaction of left ventricular myocardium, isolated, 300183 (3)" "TAZ, EFE2, BTHS, CMD3A, LVNCX" 300394 Xq28 Cardiovascular 1114 "Non-Hodgkin lymphoma, somatic, 605027 (3)" "CASP10, MCH4, ALPS2" 601762 2q33-q34 Cancer 1115 Nonsmall cell lung cancer (3) "IRF1, MAR" 147575 5q31.1 Cancer 1115 "Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)" EGFR 131550 7p12.3-p12.1 Cancer 1115 "Nonsmall cell lung cancer, somatic (3)" BRAF 164757 7q34 Cancer 1116 "Noonan syndrome 1, 163950 (3)" "PTPN11, PTP2C, SHP2, NS1" 176876 12q24.1 Developmental 1117 Norrie disease (3) "NDP, ND" 310600 Xp11.4 Neurological 1118 "Norum disease, 245900 (3)" LCAT 606967 16q22.1 Metabolic 1119 "Norwalk virus infection, resistance to (3)" "FUT2, SE" 182100 19q13.3 Immunological 1122 "Nucleoside phosphorylase deficiency, immunodeficiency due to (3)" NP 164050 14q13.1 Immunological 1126 "Obesity, adrenal insufficiency, and red hair (3)" POMC 176830 2p23.3 Nutritional 1126 "Obesity, autosomal dominant, 601665 (3)" MC4R 155541 18q22 Nutritional 1126 "Obesity, hyperphagia, and developmental delay (3)" "AKR1C2, DDH2, DD2, HAKRD" 600450 10p15-p14 Nutritional 1126 "Obesity, hyperphagia, and developmental delay (3)" "NTRK2, TRKB" 600456 9q22.1 Nutritional 1126 "Obesity, late-onset, 601665 (3)" "AGRP, ART, AGRT" 602311 16q22 Nutritional 1126 "Obesity, mild, early-onset, 601665 (3)" "NR0B2, SHP" 604630 1p36.1 Nutritional 1126 "Obesity, morbid, with hypogonadism (3)" "LEP, OB" 164160 7q31.3 Nutritional 1126 "Obesity, morbid, with hypogonadism (3)" "LEPR, OBR" 601007 1p31 Nutritional 1126 "Obesity, resistance to (3)" "PPARG, PPARG1, PPARG2" 601487 3p25 Nutritional 1126 "Obesity, severe, 601665 (3)" "PPARG, PPARG1, PPARG2" 601487 3p25 Nutritional 1126 "Obesity, severe, 601665 (3)" SIM1 603128 6q16.3-q21 Nutritional 1126 "Obesity, severe, and type II diabetes, 601665 (3)" UCP3 602044 11q13 Nutritional 1126 "Obesity, severe, due to leptin deficiency (3)" "LEP, OB" 164160 7q31.3 Nutritional 1126 "Obesity, severe, susceptibility to, 601665 (3)" MC3R 155540 20q13.2 Nutritional 1126 "Obesity, susceptibility to, 300306 (3)" "SLC6A14, OBX" 300444 Xq23-q24 Nutritional 1126 "Obesity, susceptibility to, 601665 (3)" ADRB2 109690 5q32-q34 Nutritional 1126 "Obesity, susceptibility to, 601665 (3)" ADRB3 109691 8p12-p11.2 Nutritional 1126 "Obesity, susceptibility to, 601665 (3)" CART 602606 5q13.2 Nutritional 1126 "Obesity, susceptibility to, 601665 (3)" "ENPP1, PDNP1, NPPS, M6S1, PCA1" 173335 6q22-q23 Nutritional 1126 "Obesity, susceptibility to, 601665 (3)" GHRL 605353 3p26-p25 Nutritional 1126 "Obesity, susceptibility to, 601665 (3)" UCP1 113730 4q31 Nutritional 1126 "Obesity, susceptibility to, 601665 (3)" UCP2 601693 11q13 Nutritional 1126 "Obestiy with impaired prohormone processing, 600955 (3)" "PCSK1, NEC1, PC1, PC3" 162150 5q15-q21 Nutritional 1128 "Obsessive-compulsive disorder 1, 164230 (3)" "SLC6A4, HTT, OCD1" 182138 17q11.1-q12 Psychiatric 1128 "Obsessive-compulsive disorder, protection against, 164230 (3)" BDNF 113505 11p13 Psychiatric 1128 "Obsessive-compulsive disorder, susceptibility to, 164230 (3)" HTR2A 182135 13q14-q21 Psychiatric 1129 "Occipital horn syndrome, 304150 (3)" "ATP7A, MNK, MK, OHS" 300011 Xq12-q13 multiple 1130 "Ocular albinism, Nettleship-Falls type (3)" OA1 300500 Xp22.3 Ophthamological 1130 "Oculocutaneous albinism, type II, modifier of (3)" MC1R 155555 16q24.3 Ophthamological 1130 "Oculocutaneous albinism, type IV, 606574 (3)" "MATP, AIM1" 606202 5p13.3 Ophthamological 1132 "Oculodentodigital dysplasia, 164200 (3)" "GJA1, CX43, ODDD, SDTY3, ODOD" 121014 6q21-q23.2 Skeletal 1133 "Oculofaciocardiodental syndrome, 300166 (3)" "BCOR, KIAA1575, MAA2, ANOP2" 300485 Xp11.4 multiple 1135 "Oculopharyngeal muscular dystorphy, 164300 (3)" "PABPN1, PABP2, PAB2" 602279 14q11.2-q13 Muscular 1135 "Oculopharyngeal muscular dystrophy, autosomal recessive, 257950 (3)" "PABPN1, PABP2, PAB2" 602279 14q11.2-q13 Muscular 1136 "Odontohypophosphatasia, 146300 (3)" "ALPL, HOPS, TNSALP" 171760 1p36.1-p34 Bone 1137 "Oguchi disease-1, 258100 (3)" SAG 181031 2q37.1 Ophthamological 1137 "Oguchi disease-2, 258100 (3)" "RHOK, RK, GRK1" 180381 13q34 Ophthamological 1138 "Oligodendroglioma, 137800 (3)" "PTEN, MMAC1" 601728 10q23.31 Cancer 1139 "Oligodontia, 604625 (3)" PAX9 167416 14q12-q13 Skeletal 1140 "Oligodontia-colorectal cancer syndrome, 608615 (3)" AXIN2 604025 17q24 Cancer 1141 "Omenn syndrome, 603554 (3)" "DCLRE1C, ARTEMIS, SCIDA" 605988 10p Immunological 1141 "Omenn syndrome, 603554 (3)" RAG1 179615 11p13 Immunological 1141 "Omenn syndrome, 603554 (3)" RAG2 179616 11p13 Immunological 1142 "Opitz G syndrome, type I, 300000 (3)" "MID1, OGS1, BBBG1, FXY, OSX" 300552 Xp22 multiple 1143 Opremazole poor metabolizer (3) "CYP2C, CYP2C19" 124020 10q24.1-q24.3 Metabolic 1144 "Optic atrophy 1, 165500 (3)" "OPA1, NTG, NPG" 605290 3q28-q29 Ophthamological 1144 "Optic atrophy and cataract, 165300 (3)" "OPA3, MGA3" 606580 19q13.2-q13.3 Ophthamological 3144 "Optic nerve coloboma with renal disease, 120330 (3)" PAX2 167409 10q24.3-q25.1 multiple 5144 "Optic nerve hypoplasia/aplasia, 165550 (3)" "PAX6, AN2, MGDA" 607108 11p13 Ophthamological 1145 "Oral-facial-digital syndrome 1, 311200 (3)" "OFD1, CXorf5" 300170 Xp22.3-p22.2 Skeletal 1146 "Ornithine transcarbamylase deficiency, 311250 (3)" OTC 300461 Xp21.1 Metabolic 1147 "Orofacial cleft 6, 608864 (3)" "IRF6, VWS, LPS, PIT, PPS, OFC6" 607199 1q32-q41 Skeletal 1148 "Orolaryngeal cancer, multiple, (3)" "CDKN2A, MTS1, P16, MLM, CMM2" 600160 9p21 Cancer 1149 Oroticaciduria (3) "UMPS, OPRT" 258900 3q13 Metabolic 1150 "Orthostatic intolerance, 604715 (3)" "SLC6A2, NAT1, NET1" 163970 16q12.2 Cardiovascular 1151 "OSMED syndrome, 215150 (3)" "COL11A2, STL3, DFNA13" 120290 6p21.3 Bone 1152 "Osseous heteroplasia, progressive, 166350 (3)" "GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO" 139320 20q13.2 Bone 1153 "Ossification of posterior longitudinal ligament of spine, 602475 (3)" "ENPP1, PDNP1, NPPS, M6S1, PCA1" 173335 6q22-q23 Connective tissue disorder 1154 "Osteoarthritis, hand, susceptibility to, 607850 (3)" "MATN3, EDM5, HOA" 602109 2p24-p23 Connective tissue disorder 1154 "Osteoarthritis of hip, female-specific, susceptibility to, 165720 (3)" "FRZB, FRZB1, SRFP3" 605083 2q31-q33 Connective tissue disorder 1154 "Osteoarthritis, susceptibility to, 165720 (3)" "ASPN, PLAP1" 608135 9q21.3-q22 Connective tissue disorder 1154 "Osteoarthrosis, 165720 (3)" COL2A1 120140 12q13.11-q13.2 Connective tissue disorder 1156 "Osteogenesis imperfecta, 3 clinical forms, 166200, 166210, 259420 (3)" COL1A2 120160 7q22.1 Bone 1156 "Osteogenesis imperfecta, type I, 166200 (3)" COL1A1 120150 17q21.31-q22 Bone 1156 "Osteogenesis imperfecta, type II, 166210 (3)" COL1A1 120150 17q21.31-q22 Bone 1156 "Osteogenesis imperfecta, type III, 259420 (3)" COL1A1 120150 17q21.31-q22 Bone 1156 "Osteogenesis imperfecta, type IV, 166220 (3)" COL1A1 120150 17q21.31-q22 Bone 1157 "Osteolysis, familial expansile, 174810 (3)" "TNFRSF11A, RANK, ODFR, OFE" 603499 18q22.1 Bone 1157 "Osteolysis, idiopathic, Saudi type, 605156 (3)" "MMP2, CLG4A, MONA" 120360 16q13 Bone 1161 "Osteopetrosis, autosomal dominant, type I, 607634 (3)" "LRP5, BMND1, LRP7, LR3, OPPG, VBCH2" 603506 11q13.4 Bone 1161 "Osteopetrosis, autosomal dominant, type II, 166600 (3)" "CLCN7, CLC7, OPTA2" 602727 16p13 Bone 1161 "Osteopetrosis, autosomal recessive, 259700 (3)" "OSTM1, GL" 607649 6q21 Bone 1161 "Osteopetrosis, recessive, 259700 (3)" "CLCN7, CLC7, OPTA2" 602727 16p13 Bone 1161 "Osteopetrosis, recessive, 259700 (3)" "TCIRG1, TIRC7, OC116, OPTB1" 604592 11q13.4-q13.5 Bone 1162 "Osteopoikilosis, 166700 (3)" "LEMD3, MAN1" 607844 12q14 Bone 1163 "Osteoporosis, 166710 (3)" COL1A1 120150 17q21.31-q22 Bone 1163 "Osteoporosis, 166710 (3)" "LRP5, BMND1, LRP7, LR3, OPPG, VBCH2" 603506 11q13.4 Bone 1163 Osteoporosis (3) "CALCA, CALC1" 114130 11p15.2-p15.1 Bone 1163 "Osteoporosis, hypophosphatemic, (3)" "SLC17A2, NPT2" 182309 5q35 Bone 1163 "Osteoporosis, idiopathic, 166710 (3)" COL1A2 120160 7q22.1 Bone 1163 "Osteoporosis, postmenopausal, susceptibility, 166710 (3)" "CALCR, CRT" 114131 7q21.3 Bone 1164 "Osteoporosis-pseudoglioma syndrome, 259770 (3)" "LRP5, BMND1, LRP7, LR3, OPPG, VBCH2" 603506 11q13.4 Bone 1165 "Osteoporosis, susceptibility to, 166710 (3)" RIL 603422 5q31.1 Bone 1166 Osteosarcoma (3) "TP53, P53, LFS1" 191170 17p13.1 Cancer 1166 "Osteosarcoma, somatic, 259500 (3)" "CHEK2, RAD53, CHK2, CDS1, LFS2" 604373 22q12.1 Cancer 1168 "Otopalatodigital syndrome, type I, 311300 (3)" "FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS" 300017 Xq28 multiple 1168 "Otopalatodigital syndrome, type II, 304120 (3)" "FLNA, FLN1, ABPX, NHBP, OPD1, OPD2, FMD, MNS" 300017 Xq28 multiple 1170 Ovarian cancer (3) "BRCA1, PSCP" 113705 17q21 Cancer 1170 Ovarian cancer (3) "MSH2, COCA1, FCC1, HNPCC1" 609309 2p22-p21 Cancer 1170 "Ovarian cancer, 604370 (3)" PIK3CA 171834 3q26.3 Cancer 1170 "Ovarian cancer, endometrial type (3)" "MSH6, GTBP, HNPCC5" 600678 2p16 Cancer 1170 "Ovarian cancer, somatic, (3)" "ERBB2, NGL, NEU, HER2" 164870 17q21.1 Cancer 1170 Ovarian carcinoma (3) "CDH1, UVO" 192090 16q22.1 Cancer 1170 Ovarian carcinoma (3) "RRAS2, TC21" 600098 11pter-p15.5 Cancer 1170 "Ovarian carcinoma, endometrioid type (3)" CTNNB1 116806 3p22-p21.3 Cancer 3171 "Ovarian dysgenesis 1, 233300 (3)" "FSHR, ODG1" 136435 2p21-p16 Endocrine 3171 "Ovarian dysgenesis 2, 300510 (3)" "BMP15, GDF9B, ODG2" 300247 Xp11.2 Endocrine 5170 "Ovarian hyperstimulation syndrome, gestational, 608115 (3)" "FSHR, ODG1" 136435 2p21-p16 Endocrine 7170 Ovarian sex cord tumors (3) "FSHR, ODG1" 136435 2p21-p16 Cancer 1171 "Ovarioleukodystrophy, 603896 (3)" EIF2B2 606454 14q24 Neurological 1171 "Ovarioleukodystrophy, 603896 (3)" EIF2B4 606687 2p23.3 Neurological 1171 "Ovarioleukodystrophy, 603896 (3)" "EIF2B5, LVWM, CACH, CLE" 603945 3q27 Neurological 1172 "Pachyonychia congenita, Jackson-Lawler type, 167210 (3)" "KRT17, PC2, PCHC1" 148069 17q12-q21 Dermatological 1172 "Pachyonychia congenita, Jackson-Lawler type, 167210 (3)" "KRT6B, PC2" 148042 12q13 Dermatological 1172 "Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 (3)" KRT16 148067 17q12-q21 Dermatological 1172 "Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 (3)" KRT6A 148041 12q13 Dermatological 1173 "Paget disease, juvenile, 239000 (3)" "TNFRSF11B, OPG, OCIF" 602643 8q24 Bone 1173 "Paget disease of bone, 602080 (3)" "SQSTM1, P62, PDB3" 601530 5q35 Bone 1173 "Paget disease of bone, 602080 (3)" "TNFRSF11A, RANK, ODFR, OFE" 603499 18q22.1 Bone 1174 "Pallidopontonigral degeneration, 168610 (3)" "MAPT, MTBT1, DDPAC, MSTD" 157140 17q21.1 Neurological 1175 "Pallister-Hall syndrome, 146510 (3)" "GLI3, PAPA, PAPB, ACLS" 165240 7p13 multiple 1176 "Palmoplantar keratoderma, nonepidermolytic, 600962 (3)" KRT16 148067 17q12-q21 Dermatological 1176 "Palmoplantar verrucous nevus, unilateral, 144200 (3)" KRT16 148067 17q12-q21 Dermatological 3178 "Pancreatic agenesis, 260370 (3)" IPF1 600733 13q12.1 Gastrointestinal 1178 "Pancreatic cancer, 260350 (3)" "ARMET, ARP" 601916 3p21.1 Cancer 1178 "Pancreatic cancer, 260350 (3)" "BRCA2, FANCD1" 600185 13q12.3 Cancer 1178 "Pancreatic cancer, 260350 (3)" "TP53, P53, LFS1" 191170 17p13.1 Cancer 1178 Pancreatic cancer (3) "MADH4, DPC4, SMAD4, JIP" 600993 18q21.1 Cancer 1178 "Pancreatic cancer/melanoma syndrome, 606719 (3)" "CDKN2A, MTS1, P16, MLM, CMM2" 600160 9p21 Cancer 1178 "Pancreatic cancer, somatic (3)" "ACVR1B, ACVRLK4, ALK4" 601300 12q13 Cancer 1178 "Pancreatic cancer, sporadic (3)" "STK11, PJS, LKB1" 602216 19p13.3 Cancer 1178 "Pancreatic carcinoma, somatic, 260350 (3)" "KRAS2, RASK2" 190070 12p12.1 Cancer 1178 "Pancreatic carcinoma, somatic (3)" "RBBP8, RIM" 604124 18q11.2 Cancer 1179 "Pancreatitis, hereditary, 167800 (3)" "PRSS1, TRY1" 276000 7q35 Gastrointestinal 1179 "Pancreatitis, hereditary, 167800 (3)" "SPINK1, PSTI, PCTT, TATI" 167790 5q32 Gastrointestinal 1179 "Pancreatitis, idiopathic (3)" "CFTR, ABCC7, CF, MRP7" 602421 7q31.2 Gastrointestinal 1183 Papillary serous carcinoma of the peritoneum (3) "BRCA1, PSCP" 113705 17q21 Cancer 1184 "Papillon-Lefevre syndrome, 245000 (3)" "CTSC, CPPI, PALS, PLS, HMS" 602365 11q14.1-q14.3 multiple 1186 "Paraganglioma, familial malignant, 168000 (3)" "SDHB, SDH1, SDHIP" 185470 1p36.1-p35 Cancer 1186 "Paragangliomas, familial central nervous system, 168000 (3)" "SDHD, PGL1" 602690 11q23 Cancer 1186 "Paragangliomas, familial nonchromaffin, 1, with and without deafness, 168000 (3)" "SDHD, PGL1" 602690 11q23 Cancer 1186 "Paragangliomas, familial nonchromaffin, 3, 605373 (3)" "SDHC, PGL3" 602413 1q21 Cancer 1186 "Paraganglioma, sporadic corotid body, 168000 (3)" "SDHD, PGL1" 602690 11q23 Cancer 1188 "Paramyotonia congenita, 168300 (3)" "SCN4A, HYPP, NAC1A" 603967 17q23.1-q25.3 Muscular 1189 "Parathyroid adenoma, sporadic (3)" MEN1 131100 11q13 Cancer 1189 "Parathyroid adenoma with cystic changes, 145001 (3)" "HRPT2, C1orf28" 607393 1q25-q31 Cancer 1189 "Parathyroid carcinoma, 608266 (3)" "HRPT2, C1orf28" 607393 1q25-q31 Cancer 1190 "Parietal foramina 1, 168500 (3)" "MSX2, CRS2, HOX8" 123101 5q34-q35 Skeletal 1190 "Parietal foramina 2, 168500 (3)" "ALX4, PFM2, FPP" 605420 11p11.2 Skeletal 1190 "Parietal foramina with cleidocranial dysplasia, 168550 (3)" "MSX2, CRS2, HOX8" 123101 5q34-q35 Skeletal 1191 "Parkes Weber syndrome, 608355 (3)" "RASA1, GAP, CMAVM, PKWS" 139150 5q13.3 multiple 1192 "Parkinson disease, 168600 (3)" "NR4A2, NURR1, NOT, TINUR" 601828 2q22-q23 Neurological 1192 "Parkinson disease, 168600 (3)" SNCAIP 603779 5q23.1-q23.3 Neurological 1192 "Parkinson disease, 168600 (3)" "TBP, SCA17" 600075 6q27 Neurological 1192 "Parkinson disease 4, autosomal dominant Lewy body, 605543 (3)" "SNCA, NACP, PARK1, PARK4" 163890 4q21 Neurological 1192 "Parkinson disease 7, autosomal recessive early-onset, 606324 (3)" "DJ1, PARK7" 602533 1p36 Neurological 1192 "Parkinson disease-8, 607060 (3)" "LRRK2, PARK8" 609007 12q12 Neurological 1192 "Parkinson disease, early onset, 605909 (3)" "PINK1, PARK6" 608309 1p36 Neurological 1192 "Parkinson disease, familial, 168600 (3)" "UCHL1, PARK5" 191342 4p14 Neurological 1192 "Parkinson disease, familial, 168601 (3)" "SNCA, NACP, PARK1, PARK4" 163890 4q21 Neurological 1192 "Parkinson disease, juvenile, type 2, 600116 (3)" "PRKN, PARK2, PDJ" 602544 6q25.2-q27 Neurological 1192 "Parkinson disease, resistance to, 168600 (3)" DBH 609312 9q34 Neurological 1192 "Parkinson disease, susceptibility to, 168600 (3)" NDUFV2 600532 18p11.31-p11.2 Neurological 3195 Paroxysmal nocturnal hemoglobinuria (3) PIGA 311770 Xp22.1 Hematological 1195 "Paroxysmal nonkinesigenic dyskinesia, 118800 (3)" "MR1, TAHCCP2, KIPP1184, BRP17, PNKD, FPD1, PDC, DYT8" 609023 2q35 Neurological 1196 "Partington syndrome, 309510 (3)" "ARX, ISSX, PRTS, MRXS1, MRX36, MRX54" 300382 Xp22.13 Neurological 1198 "PCWH, 609136 (3)" "SOX10, WS4" 602229 22q13 Neurological 1199 "Pelger-Huet anomaly, 169400 (3)" "LBR, PHA" 600024 1q42.1 Hematological 1200 "Pelizaeus-Merzbacher disease, 312080 (3)" "PLP1, PMD" 300401 Xq22 Neurological 1201 "Pelizaeus-Merzbacher-like disease, autosomal recessive, 608804 (3)" "GJA12, CX47, PMLDAR" 608803 1q41-q42 Neurological 1204 "Pendred syndrome, 274600 (3)" "SLC26A4, PDS, DFNB4" 605646 7q31 "Ear,Nose,Throat" 1205 Perineal hypospadias (3) "AR, DHTR, TFM, SBMA, KD, SMAX1" 313700 Xq11-q12 Endocrine 1206 "Periodic fever, familial, 142680 (3)" "TNFRSF1A, TNFR1, TNFAR, FPF" 191190 12p13.2 Immunological 1207 "Periodontitis, juvenile, 170650 (3)" "CTSC, CPPI, PALS, PLS, HMS" 602365 11q14.1-q14.3 "Ear,Nose,Throat" 1209 "Periventricular heterotopia with microcephaly, 608097 (3)" "ARFGEF2, BIG2" 605371 20q13.13 Neurological 1210 "Peroxisomal biogenesis disorder, complementation group 4 (3)" "PEX6, PXAAA1, PAF2" 601498 6p21.1 multiple 1210 "Peroxisomal biogenesis disorder, complementation group 6 (3)" "PEX6, PXAAA1, PAF2" 601498 6p21.1 multiple 1210 Peroxisome biogenesis factor 12 (3) PEX12 601758 Chr.17 multiple 3212 "Persistent hyperinsulinemic hypoglycemia of infancy, 256450 (3)" "KCNJ11, BIR, PHHI" 600937 11p15.1 Metabolic 1212 "Persistent Mullerian duct syndrome, type I, 261550 (3)" "AMH, MIF" 600957 19p13.3-p13.2 Developmental 1212 "Persistent Mullerian duct syndrome, type II, 261550 (3)" "AMHR2, AMHR" 600956 12q13 Developmental 1213 "Peters anomaly, 603807 (3)" "PAX6, AN2, MGDA" 607108 11p13 Developmental 1213 "Peters anomaly, 604229 (3)" "CYP1B1, GLC3A" 601771 2p22-p21 Developmental 1214 "Peutz-Jeghers syndrome, 175200 (3)" "STK11, PJS, LKB1" 602216 19p13.3 Cancer 1215 "Pfeiffer syndrome, 101600 (3)" "FGFR1, FLT2, KAL2" 136350 8p11.2-p11.1 Skeletal 1215 "Pfeiffer syndrome, 101600 (3)" "FGFR2, BEK, CFD1, JWS" 176943 10q26 Skeletal 1216 Phenylketonuria (3) "PAH, PKU1" 261600 12q24.1 Metabolic 1216 Phenylketonuria due to dihydropteridine reductase deficiency (3) "QDPR, DHPR" 261630 4p15.31 Metabolic 1216 Phenylketonuria due to PTS deficiency (3) PTS 261640 11q22.3-q23.3 Metabolic 1217 "Phenylthiocarbamide tasting, 171200 (3)" "TAS2R38, T2R61, PTC" 607751 7q35-q36 "Ear,Nose,Throat" 1218 "Pheochromocytoma, 171300 (3)" "SDHD, PGL1" 602690 11q23 Cancer 1218 "Pheochromocytoma, 171300 (3)" VHL 608537 3p26-p25 Cancer 1218 "Pheochromocytoma, extraadrenal, and cervical paraganglioma, 115310 (3)" "SDHB, SDH1, SDHIP" 185470 1p36.1-p35 Cancer 1220 "Phosphoglycerate dehydrogenase deficiency, 601815 (3)" PHGDH 606879 1q12 Metabolic 1221 Phosphoribosyl pyrophosphate synthetase-related gout (3) PRPS1 311850 Xq22-q24 Metabolic 1222 "Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)" PHKB 172490 16q12-q13 Metabolic 1223 Phosphoserine phosphatase deficiency (3) PSP 172480 7p15.2-p15.1 Metabolic 1225 "Pick disease, 172700 (3)" "PSEN1, AD3" 104311 14q24.3 Neurological 1226 Piebaldism (3) "KIT, PBT" 164920 4q12 Dermatological 1227 "Pigmentation of hair, skin, and eyes, variation in (3)" "MATP, AIM1" 606202 5p13.3 Dermatological 3229 "Pigmented adrenocortical disease, primary isolated, 160980 (3)" "PRKAR1A, TSE1, CNC1, CAR" 188830 17q23-q24 Cancer 1229 "Pigmented paravenous chorioretinal atrophy, 172870 (3)" "CRB1, RP12" 604210 1q31-q32.1 Ophthamological 1230 "Pilomatricoma, 132600 (3)" CTNNB1 116806 3p22-p21.3 Cancer 1232 Pituitary ACTH-secreting adenoma (3) "GNAI2, GNAI2B, GIP" 139360 3p21 Cancer 1232 Pituitary ACTH secreting adenoma (3) "GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO" 139320 20q13.2 Cancer 1232 "Pituitary adenoma, nonfunctioning (3)" "THRA, ERBA1, THRA1" 190120 17q11.2 Cancer 3232 Pituitary anomalies with holoprosencephaly-like features (3) GLI2 165230 2q14 multiple 5232 "Pituitary hormone deficiency, combined (3)" "POU1F1, PIT1" 173110 3p11 Endocrine 5232 "Pituitary hormone deficiency, combined (3)" PROP1 601538 5q Endocrine 5232 "Pituitary hormone deficiency, combined, HESX1-related, 182230 (3)" "HESX1, RPX" 601802 3p21.2-p21.1 Endocrine 5232 "Pituitary hormone deficiency, combined, with rigid cervical spine, 262600 (3)" LHX3 600577 9q34.3 Endocrine 7232 "Pituitary tumor, invasive (3)" "PRKCA, PKCA" 176960 17q22-q23.2 Cancer 1233 Placental abruption (3) NOS3 163729 7q36 Unclassified 5233 Placental steroid sulfatase deficiency (3) "STS, ARSC1, ARSC, SSDD" 308100 Xp22.32 Metabolic 1234 Plasmin inhibitor deficiency (3) "PLI, SERPINF2" 262850 17pter-p12 Hematological 1235 Plasminogen Tochigi disease (3) PLG 173350 6q26 Hematological 1237 Platelet-activating factor acetylhydrolase deficiency (3) "PLA2G7, PAFAH" 601690 6p21.2-p12 Hematological 1237 Platelet ADP receptor defect (3) "P2RY12, P2Y12" 600515 3q24-q25 Hematological 1237 "Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)" "RUNX1, CBFA2, AML1" 151385 21q22.3 Hematological 1237 "Platelet glycoprotein IV deficiency, 608404 (3)" CD36 173510 7q11.2 Hematological 1238 "Pneumonitis, desquamative interstitial, 263000 (3)" "SFTPC, SFTP2" 178620 8p21 Respiratory 1239 "Pneumothorax, primary spontaneous, 173600 (3)" "FLCN, BHD" 607273 17p11.2 Respiratory 1241 "Polycystic kidney and hepatic disease, 263200 (3)" "FCYT, PKHD1, ARPKD" 606702 6p21.1-p12 Renal 1241 "Polycystic kidney disease, adult type I, 173900 (3)" PKD1 601313 16p13.3-p13.12 Renal 1241 "Polycystic kidney disease, adult, type II (3)" "PKD2, PKD4" 173910 4q21-q23 Renal 1241 "Polycystic kidney disease, infantile severe, with tuberous sclerosis (3)" PKDTS 600273 16p13.3 Renal 3241 "Polycystic liver disease, 174050 (3)" "PRKCSH, G19P1, PCLD" 177060 19p13.2-p13.1 Gastrointestinal 3241 "Polycystic liver disease, 174050 (3)" SEC63 608648 6q21 Gastrointestinal 1242 "Polycythemia, benign familial, 263400 (3)" VHL 608537 3p26-p25 Hematological 1242 "Polycythemia vera, 263300 (3)" JAK2 147796 9p24 Hematological 1243 "Polydactyly, postaxial, types A1 and B, 174200 (3)" "GLI3, PAPA, PAPB, ACLS" 165240 7p13 Skeletal 1243 "Polydactyly, preaxial, type IV, 174700 (3)" "GLI3, PAPA, PAPB, ACLS" 165240 7p13 Skeletal 1244 "Polymicrogyria, bilateral frontoparietal, 606854 (3)" "GPR56, TM7XN1, BFPP" 604110 16q13 Neurological 1245 "Polyposis, juvenile intestinal, 174900 (3)" "BMPR1A, ACVRLK3, ALK3" 601299 10q22.3 Cancer 1245 "Polyposis, juvenile intestinal, 174900 (3)" "MADH4, DPC4, SMAD4, JIP" 600993 18q21.1 Cancer 1246 "Popliteal pterygium syndrome, 119500 (3)" "IRF6, VWS, LPS, PIT, PPS, OFC6" 607199 1q32-q41 multiple 1247 "Porencephaly, 175780 (3)" COL4A1 120130 13q34 Neurological 1249 "Porphyria, acute hepatic (3)" ALAD 125270 9q34 Metabolic 1249 "Porphyria, acute intermittent (3)" "HMBS, PBGD, UPS" 176000 11q23.3 Metabolic 1249 "Porphyria, acute intermittent, nonerythroid variant (3)" "HMBS, PBGD, UPS" 176000 11q23.3 Metabolic 1249 "Porphyria, congenital erythropoietic, 263700 (3)" UROS 606938 10q25.2-q26.3 Metabolic 1249 Porphyria cutanea tarda (3) UROD 176100 1p34 Metabolic 1249 "Porphyria, hepatoerythropoietic (3)" UROD 176100 1p34 Metabolic 1249 "Porphyria variegata, 176200 (3)" "HFE, HLA-H, HFE1" 235200 6p21.3 Metabolic 1249 "Porphyria variegata, 176200 (3)" PPOX 600923 1q22 Metabolic 1253 "PPM-X syndrome, 300055 (3)" "MECP2, RTT, PPMX, MRX16, MRX79" 300005 Xq28 Neurological 1254 "Prader-Willi syndrome, 176270 (3)" NDN 602117 15q11-q13 multiple 1254 "Prader-Willi syndrome, 176270 (3)" SNRPN 182279 15q12 multiple 1256 "Precocious puberty, male, 176410 (3)" LHCGR 152790 2p21 Developmental 1257 Preeclampsia/eclampsia 4 (3) "STOX1, PEE4" 609397 10q22.1 Cardiovascular 1257 "Preeclampsia, susceptibility to, 189800 (3)" EPHX1 132810 1q42.1 Cardiovascular 1257 "Preeclampsia, susceptibility to (3)" "AGT, SERPINA8" 106150 1q42-q43 Cardiovascular 1259 Prekallikrein deficiency (3) "KLKB1, KLK3" 229000 4q35 Hematological 3260 "Premature chromosome condensation with microcephaly and mental retardation, 606858 (3)" MCPH1 607117 8p23 Neurological 1260 "Premature ovarian failure, 300511 (3)" "DIAPH2, DIA, POF2" 300108 Xq22 Renal 1260 "Premature ovarian failure 3, 608996 (3)" "FOXL2, BPES, BPES1, PFRK, POF3" 605597 3q23 Renal 1261 "Primary lateral sclerosis, juvenile, 606353 (3)" "ALS2, ALSJ, PLSJ, IAHSP" 606352 2q33 Neurological 1263 "Prion disease with protracted course, 606688 (3)" "PRNP, PRIP" 176640 20pter-p12 Neurological 1265 "Progressive external ophthalmoplegia with mitochondrial DNA deletions, 157640 (3)" "C10orf2, TWINKLE, PEO1, PEO" 606075 10q24 Ophthamological 1265 "Progressive external ophthalmoplegia with mitochondrial DNA deletions, 157640 (3)" "POLG, POLG1, POLGA, PEO" 174763 15q25 Ophthamological 1265 "Progressive external ophthalmoplegia with mitochondrial DNA deletions, 157640 (3)" "SLC25A4, ANT1, T1, PEO3" 103220 4q35 Ophthamological 1266 Proguanil poor metabolizer (3) "CYP2C, CYP2C19" 124020 10q24.1-q24.3 Metabolic 1267 "Prolactinoma, hyperparathyroidism, carcinoid syndrome (3)" MEN1 131100 11q13 Endocrine 1268 Prolidase deficiency (3) PEPD 170100 19cen-q13.11 Connective tissue disorder 1270 "Properdin deficiency, X-linked, 312060 (3)" "PFC, PFD" 300383 Xp11.4-p11.23 Immunological 1271 "Propionicacidemia, 606054 (3)" PCCA 232000 13q32 Metabolic 1271 "Propionicacidemia, 606054 (3)" PCCB 232050 3q21-q22 Metabolic 1272 "Prostate cancer 1, 176807, 601518 (3)" "RNASEL, RNS4, PRCA1, HPC1" 180435 1q25 Cancer 1272 "Prostate cancer, 176807 (3)" "BRCA2, FANCD1" 600185 13q12.3 Cancer 1272 "Prostate cancer, 176807 (3)" "PTEN, MMAC1" 601728 10q23.31 Cancer 1272 Prostate cancer (3) "AR, DHTR, TFM, SBMA, KD, SMAX1" 313700 Xq11-q12 Cancer 1272 "Prostate cancer, familial, 176807 (3)" "CHEK2, RAD53, CHK2, CDS1, LFS2" 604373 22q12.1 Cancer 1272 "Prostate cancer, hereditary, 176807 (3)" MSR1 153622 8p22 Cancer 1272 "Prostate cancer, progression and metastasis of, 176807 (3)" "EPHB2, EPHT3, DRT, ERK" 600997 1p36.1-p35 Cancer 1272 "Prostate cancer, somatic, 176807 (3)" "KLF6, COPEB, BCD1, ZF9" 602053 10p15 Cancer 1272 "Prostate cancer, somatic, 176807 (3)" "MAD1L1, TXBP181" 602686 7p22 Cancer 1272 "Prostate cancer, susceptibility to, 176807 (3)" "AR, DHTR, TFM, SBMA, KD, SMAX1" 313700 Xq11-q12 Cancer 1272 "Prostate cancer, susceptibility to, 176807 (3)" ATBF1 104155 16q22.3-q23.1 Cancer 1272 "Prostate cancer, susceptibility to, 176807 (3)" "ELAC2, HPC2" 605367 17p11 Cancer 1272 "Prostate cancer, susceptibility to, 176807 (3)" MXI1 600020 10q25 Cancer 1273 Protein S deficiency (3) PROS1 176880 3p11.1-q11.2 Hematological 1274 "Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (3)" "CLCN5, CLCK2, NPHL2, DENTS" 300008 Xp11.22 Renal 1276 "Protoporphyria, erythropoietic (3)" "FECH, FCE" 177000 18q21.3 Metabolic 1276 "Protoporphyria, erythropoietic, recessive, with liver failure (3)" "FECH, FCE" 177000 18q21.3 Metabolic 1277 "Proud syndrome, 300004 (3)" "ARX, ISSX, PRTS, MRXS1, MRX36, MRX54" 300382 Xp22.13 multiple 1278 "Pseudoachondroplasia, 177170 (3)" "COMP, EDM1, MED, PSACH" 600310 19p13.1 Skeletal 1279 "Pseudohermaphroditism, male, with gynecomastia, 264300 (3)" "HSD17B3, EDH17B3" 605573 9q22 Developmental 1279 "Pseudohermaphroditism, male, with Leydig cell hypoplasia (3)" LHCGR 152790 2p21 Developmental 1281 "Pseudohypoaldosteronism, type I, 264350 (3)" SCNN1A 600228 12p13 Endocrine 1281 "Pseudohypoaldosteronism, type I, 264350 (3)" SCNN1B 600760 16p13-p12 Endocrine 1281 "Pseudohypoaldosteronism, type I, 264350 (3)" "SCNN1G, PHA1" 600761 16p13-p12 Endocrine 1281 "Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)" "NR3C2, MLR, MCR" 600983 4q31.1 Endocrine 1281 Pseudohypoaldosteronism type II (3) "WNK4, PRKWNK4, PHA2B" 601844 17q21-q22 Endocrine 1281 "Pseudohypoaldosteronism, type IIC, 145260 (3)" "WNK1, PRKWNK1, KDP, PHA2C" 605232 12p13 Endocrine 1282 "Pseudohypoparathyroidism, type Ia, 103580 (3)" "GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO" 139320 20q13.2 Endocrine 1282 "Pseudohypoparathyroidism, type Ib, 603233 (3)" "GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO" 139320 20q13.2 Endocrine 1283 "Pseudovaginal perineoscrotal hypospadias, 264600 (3)" SRD5A2 607306 2p23 Unclassified 1284 Pseudovitamin D deficiency rickets 1 (3) "CYP27B1, PDDR, VDD1" 264700 12q14 Bone 1285 "Pseudoxanthoma elasticum, autosomal dominant, 177850 (3)" "ABCC6, ARA, ABC34, MLP1, PXE" 603234 16p13.1 Connective tissue disorder 1285 "Pseudoxanthoma elasticum, autosomal recessive, 264800 (3)" "ABCC6, ARA, ABC34, MLP1, PXE" 603234 16p13.1 Connective tissue disorder 1288 "Psoriasis, susceptibility to, 177900 (3)" PSORS6 605364 19p13 Dermatological 1288 "Psoriatic arthritis, susceptibility to, 607507 (3)" "CARD15, NOD2, IBD1, CD, ACUG, PSORAS1" 605956 16q12 Dermatological 1291 "Pulmonary alveolar proteinosis, 265120 (3)" CSF2RB 138981 22q12.2-q13.1 Respiratory 1291 "Pulmonary alveolar proteinosis, 265120 (3)" "SFTPC, SFTP2" 178620 8p21 Respiratory 1291 "Pulmonary alveolar proteinosis, congenital, 265120 (3)" "SFTPB, SFTB3" 178640 2p12-p11.2 Respiratory 1291 "Pulmonary fibrosis, idiopathic, familial, 178500 (3)" "SFTPC, SFTP2" 178620 8p21 Respiratory 1291 "Pulmonary fibrosis, idiopathic, susceptibility to, 178500 (3)" "SFTPA1, SFTP1" 178630 10q22.2-q23.1 Respiratory 5291 "Pulmonary hypertension, familial primary, 178600 (3)" "BMPR2, PPH1" 600799 2q33 Cardiovascular 1293 "Pycnodysostosis, 265800 (3)" CTSK 601105 1q21 Skeletal 1294 "Pyloric stenosis, infantile hypertrophic, susceptibility to, 179010 (3)" NOS1 163731 12q24.2-q24.31 Developmental 1295 "Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3)" "PSTPIP1, PSTPIP, CD2BP1, PAPAS" 606347 15q24-q25.1 Dermatological 1296 Pyropoikilocytosis (3) SPTA1 182860 1q21 Hematological 1297 "Pyruvate carboxylase deficiency, 266150 (3)" PC 608786 11q13.4-q13.5 Metabolic 1297 Pyruvate dehydrogenase deficiency (3) "PDHA1, PHE1A" 312170 Xp22.2-p22.1 Metabolic 1297 Pyruvate dehydrogenase E1-beta deficiency (3) PDHB 179060 3p13-q23 Metabolic 1298 "Rabson-Mendenhall syndrome, 262190 (3)" INSR 147670 19p13.2 multiple 1301 "Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 (3)" "HOXA11, HOX1I" 142958 7p15-p14.2 multiple 1303 "RAPADILINO syndrome, 266280 (3)" "RECQL4, RTS, RECQ4" 603780 8q24.3 multiple 1304 Rapid progression to AIDS from HIV1 infection (3) "CX3CR1, GPR13, V28" 601470 3pter-p21 Immunological 1305 "Rapp-Hodgkin syndrome, 129400 (3)" "TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS" 603273 3q27 multiple 1306 Red hair/fair skin (3) MC1R 155555 16q24.3 Dermatological 1307 "Refsum disease, 266500 (3)" "PEX7, RCDP1" 601757 6q22-q24 Neurological 1307 "Refsum disease, 266500 (3)" "PHYH, PAHX" 602026 10pter-p11.2 Neurological 1307 "Refsum disease, infantile, 266510 (3)" "PEX1, ZWS1" 602136 7q21-q22 Neurological 1307 "Refsum disease, infantile form, 266510 (3)" PEX26 608666 22q11.21 Neurological 1307 "Refsum disease, infantile form, 266510 (3)" "PXMP3, PAF1, PMP35, PEX2" 170993 8q21.1 Neurological 1308 "Renal carcinoma, chromophobe, somatic, 144700 (3)" "FLCN, BHD" 607273 17p11.2 Cancer 1308 "Renal cell carcinoma, 144700 (3)" "TRC8, RCA1, HRCA1" 603046 8q24.1 Cancer 1308 "Renal cell carcinoma, clear cell, somatic, 144700 (3)" OGG1 601982 3p26.2 Cancer 1308 "Renal cell carcinoma, papillary, 1, 605074 (3)" "PRCC, RCCP1" 179755 1q21 Cancer 1308 "Renal cell carcinoma, papillary, 1, 605074 (3)" TFE3 314310 Xp11.22 Cancer 1308 "Renal cell carcinoma, papillary, familial and sporadic, 605074 (3)" MET 164860 7q31 Cancer 1308 "Renal cell carcinoma, somatic (3)" VHL 608537 3p26-p25 Cancer 3308 "Renal glucosuria, 233100 (3)" "SLC5A2, SGLT2" 182381 16p11.2 Renal 5308 "Renal hypoplasia, isolated (3)" PAX2 167409 10q24.3-q25.1 Renal 7308 "Renal tubular acidosis, distal, 179800, 602722 (3)" "SLC4A1, AE1, EPB3" 109270 17q21-q22 Renal 7308 "Renal tubular acidosis, distal, autosomal recessive, 602722 (3)" "ATP6V0A4, ATP6N1B, VPP2, RTA1C, RTADR" 605239 7q33-q34 Renal 7308 Renal tubular acidosis-osteopetrosis syndrome (3) CA2 259730 8q22 Renal 7308 "Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)" "SLC4A4, NBC1, KNBC, SLC4A5" 603345 4q21 Renal 7308 "Renal tubular acidosis with deafness, 267300 (3)" "ATP6B1, VPP3" 192132 2cen-q13 Renal 9308 "Renal tubular dysgenesis, 267430 (3)" "ACE, DCP1, ACE1" 106180 17q23 Renal 9308 "Renal tubular dysgenesis, 267430 (3)" "AGTR1, AGTR1A, AT2R1" 106165 3q21-q25 Renal 9308 "Renal tubular dysgenesis, 267430 (3)" "AGT, SERPINA8" 106150 1q42-q43 Renal 9308 "Renal tubular dysgenesis, 267430 (3)" REN 179820 1q32 Renal 1309 "Renpenning syndrome, 309500 (3)" "PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8" 300463 Xp11.23 Neurological 1311 Response to morphine-6-glucuronide (3) OPRM1 600018 6q24-q25 Neurological 1312 "Resting heart rate, 607276 (3)" "ADRB1, ADRB1R, RHR" 109630 10q24-q26 Cardiovascular 1314 "Restrictive dermopathy, lethal, 275210 (3)" "ZMPSTE24, FACE1, STE24, MADB" 606480 1p34 Dermatological 1315 "Retinal degeneration, autosomal recessive, clumped pigment type (3)" "NRL, D14S46E, RP27" 162080 14q11.1-q11.2 Ophthamological 1315 "Retinal degeneration, autosomal recessive, prominin-related (3)" "PROM1, PROML1, AC133" 604365 4p16.2-p12 Ophthamological 1315 "Retinal degeneration, late-onset, autosomal dominant, 605670 (3)" "C1QTNF5, CTRP5, LORD" 608752 11q23.3 Ophthamological 1315 "Retinal dystrophy, early-onset severe (3)" LRAT 604863 4q31 Ophthamological 1316 "Retinitis pigmentosa-10, 180105 (3)" IMPDH1 146690 7q31.3-q32 Ophthamological 1316 "Retinitis pigmentosa-11, 600138 (3)" "PRPF31, PRP31" 606419 19q13.4 Ophthamological 1316 "Retinitis pigmentosa-1, 180100 (3)" "RP1, ORP1" 603937 8q11-q13 Ophthamological 1316 "Retinitis pigmentosa-12, autosomal recessive, 600105 (3)" "CRB1, RP12" 604210 1q31-q32.1 Ophthamological 1316 "Retinitis pigmentosa-13, 600059 (3)" "PRPF8, PRPC8, RP13" 607300 17p13.3 Ophthamological 1316 "Retinitis pigmentosa-14, 600132 (3)" "TULP1, RP14" 602280 6p21.3 Ophthamological 1316 "Retinitis pigmentosa-17, 600852 (3)" "CA4, RP17" 114760 17q23 Ophthamological 1316 "Retinitis pigmentosa-18, 601414 (3)" "HPRP3, RP18" 607301 1q21.2 Ophthamological 1316 "Retinitis pigmentosa-19, 601718 (3)" "ABCA4, ABCR, STGD1, FFM, RP19" 601691 1p21-p13 Ophthamological 1316 Retinitis pigmentosa-20 (3) "RPE65, RP20" 180069 1p31 Ophthamological 1316 Retinitis pigmentosa-2 (3) RP2 312600 Xp11.3 Ophthamological 1316 "Retinitis pigmentosa-26, 608380 (3)" CERKL 608381 2q31.2-q32.3 Ophthamological 1316 Retinitis pigmentosa-27 (3) "NRL, D14S46E, RP27" 162080 14q11.1-q11.2 Ophthamological 1316 "Retinitis pigmentosa-30, 607921 (3)" "FSCN2, RFSN" 607643 17q25 Ophthamological 1316 "Retinitis pigmentosa-3, 300389 (3)" "RPGR, RP3, CRD, RP15, COD1" 312610 Xp21.1 Ophthamological 1316 "Retinitis pigmentosa-4, autosomal dominant (3)" "RHO, RP4, OPN2" 180380 3q21-q24 Ophthamological 1316 "Retinitis pigmentosa-7, 608133 (3)" "RDS, RP7, PRPH2, PRPH, AVMD, AOFMD" 179605 6p21.1-cen Ophthamological 1316 "Retinitis pigmentosa-9, 180104 (3)" RP9 607331 7p14.2 Ophthamological 1316 "Retinitis pigmentosa, AR, 268000 (3)" RLBP1 180090 15q26 Ophthamological 1316 "Retinitis pigmentosa, AR, without hearing loss, 268000 (3)" USH2A 608400 1q41 Ophthamological 1316 "Retinitis pigmentosa, autosomal dominant (3)" RGR 600342 10q23 Ophthamological 1316 "Retinitis pigmentosa, autosomal recessive, 268000 (3)" "CNGB1, CNCG3L, CNCG2" 600724 16q13 Ophthamological 1316 "Retinitis pigmentosa, autosomal recessive (3)" "CNGA1, CNCG1" 123825 4p12-cen Ophthamological 1316 "Retinitis pigmentosa, autosomal recessive (3)" "PDE6A, PDEA" 180071 5q31.2-q34 Ophthamological 1316 "Retinitis pigmentosa, autosomal recessive (3)" "PDE6B, PDEB, CSNB3" 180072 4p16.3 Ophthamological 1316 "Retinitis pigmentosa, autosomal recessive (3)" RGR 600342 10q23 Ophthamological 1316 "Retinitis pigmentosa, autosomal recessive (3)" "RHO, RP4, OPN2" 180380 3q21-q24 Ophthamological 1316 "Retinitis pigmentosa, digenic (3)" "ROM1, ROSP1" 180721 11q13 Ophthamological 1316 "Retinitis pigmentosa, digenic, 608133 (3)" "RDS, RP7, PRPH2, PRPH, AVMD, AOFMD" 179605 6p21.1-cen Ophthamological 1316 "Retinitis pigmentosa, juvenile (3)" "AIPL1, LCA4" 604392 17p13.1 Ophthamological 1316 "Retinitis pigmentosa, late onset, 268000 (3)" "NR2E3, PNR, ESCS" 604485 15q23 Ophthamological 1316 "Retinitis pigmentosa, late-onset dominant, 268000 (3)" "CRX, CORD2, CRD" 602225 19q13.3 Ophthamological 1316 "Retinitis pigmentosa, MERTK-related, 268000 (3)" MERTK 604705 2q14.1 Ophthamological 1316 "Retinitis pigmentosa, X-linked with deafness and sinorespiratory infections, 300455 (3)" "RPGR, RP3, CRD, RP15, COD1" 312610 Xp21.1 Ophthamological 1316 "Retinitis pigmentosa, X-linked, with recurrent respiratory infections, 300455 (3)" "RPGR, RP3, CRD, RP15, COD1" 312610 Xp21.1 Ophthamological 1316 "Retinitis punctata albescens, 136880 (3)" "RDS, RP7, PRPH2, PRPH, AVMD, AOFMD" 179605 6p21.1-cen Ophthamological 1316 "Retinitis punctata albescens, 136880 (3)" RLBP1 180090 15q26 Ophthamological 1317 Retinoblastoma (3) RB1 180200 13q14.1-q14.2 Cancer 1318 "Retinol binding protein, deficiency of (3)" RBP4 180250 10q24 Ophthamological 1320 Retinoschisis (3) "RS1, XLRS1" 312700 Xp22.2-p22.1 Ophthamological 1321 "Rett syndrome, 312750 (3)" "MECP2, RTT, PPMX, MRX16, MRX79" 300005 Xq28 Neurological 1321 "Rett syndrome, atypical, 312750 (3)" "CDKL5, STK9" 300203 Xp22 Neurological 1321 "Rett syndrome, preserved speech variant, 312750 (3)" "MECP2, RTT, PPMX, MRX16, MRX79" 300005 Xq28 Neurological 1322 "Rhabdoid predisposition syndrome, familial (3)" "SMARCB1, SNF5, INI1, RDT" 601607 22q11 Cancer 1322 Rhabdoid tumors (3) "SMARCB1, SNF5, INI1, RDT" 601607 22q11 Cancer 1323 "Rhabdomyosarcoma, 268210 (3)" "SLC22A1L, BWSCR1A, IMPT1" 602631 11p15.5 Cancer 1323 "Rhabdomyosarcoma, alveolar, 268220 (3)" "FOXO1A, FKHR" 136533 13q14.1 Cancer 1323 "Rhabdomyosarcoma, alveolar, 268220 (3)" "PAX3, WS1, HUP2, CDHS" 606597 2q35 Cancer 1323 "Rhabdomyosarcoma, alveolar, 268220 (3)" PAX7 167410 1p36.2-p36.12 Cancer 1324 "Rheumatoid arthritis, progression of, 180300 (3)" "IL10, CSIF" 124092 1q31-q32 Connective tissue disorder 1324 "Rheumatoid arthritis, susceptibility to, 180300 (3)" "MHC2TA, C2TA" 600005 16p13 Connective tissue disorder 1324 "Rheumatoid arthritis, susceptibility to, 180300 (3)" NFKBIL1 601022 6p21.3 Connective tissue disorder 1324 "Rheumatoid arthritis, susceptibility to, 180300 (3)" "PADI4, PADI5, PAD" 605347 1p36 Connective tissue disorder 1324 "Rheumatoid arthritis, susceptibility to, 180300 (3)" "PTPN8, PEP, PTPN22, LYP" 600716 1p13 Connective tissue disorder 1324 "Rheumatoid arthritis, susceptibility to, 180300 (3)" "RUNX1, CBFA2, AML1" 151385 21q22.3 Connective tissue disorder 1324 "Rheumatoid arthritis, susceptibility to, 180300 (3)" "SLC22A4, OCTN1" 604190 5q31 Connective tissue disorder 1324 "Rheumatoid arthritis, systemic juvenile, susceptibility to, 604302 (3)" MIF 153620 22q11.2 Connective tissue disorder 1325 "Rhizomelic chondrodysplasia punctata, type 1, 215100 (3)" "PEX7, RCDP1" 601757 6q22-q24 multiple 1325 "Rhizomelic chondrodysplasia punctata, type 3, 600121 (3)" "AGPS, ADHAPS" 603051 2q31 multiple 1326 Rh-mod syndrome (3) "RHAG, RH50A" 180297 6p21.1-p11 Hematological 1327 Rh-negative blood type (3) RHD 111680 1p36.2-p34 Hematological 1327 "Rh-null disease, amorph type (3)" RHCE 111700 1p36.2-p34 Hematological 1329 "Ribose 5-phosphate isomerase deficiency, 608611 (3)" "RPIA, RPI" 180430 2p11.2 Metabolic 1330 "Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)" CYP2R1 608713 11p15.2 Bone 1330 "Rickets, vitamin D-resistant, type IIA, 277440 (3)" VDR 601769 12q12-q14 Bone 1330 "Rickets, vitamin D-resistant, type IIB, 277420 (3)" VDR 601769 12q12-q14 Bone 1331 Rieger anomaly (3) "FOXC1, FKHL7, FREAC3" 601090 6p25 multiple 1331 "Rieger syndrome, 180500 (3)" "PITX2, IDG2, RIEG1, RGS, IGDS2" 601542 4q25-q26 multiple 1332 "Ring dermoid of cornea, 180550 (3)" "PITX2, IDG2, RIEG1, RGS, IGDS2" 601542 4q25-q26 Ophthamological 1333 "Rippling muscle disease, 606072 (3)" "CAV3, LGMD1C" 601253 3p25 Muscular 1334 "Roberts syndrome, 268300 (3)" ESCO2 609353 8p21.1 Developmental 1335 "Robinow syndrome, autosomal recessive, 268310 (3)" "ROR2, BDB1, BDB, NTRKR2" 602337 9q22 multiple 1337 "Rokitansky-Kuster-Hauser syndrome, 277000 (3)" WNT4 603490 1p35 Developmental 1338 "Rothmund-Thomson syndrome, 268400 (3)" "RECQL4, RTS, RECQ4" 603780 8q24.3 multiple 1339 "Roussy-Levy syndrome, 180800 (3)" "MPZ, CMT1B, CMTDI3, CHM, DSS" 159440 1q22 multiple 1339 "Roussy-Levy syndrome, 180800 (3)" "PMP22, CMT1A, CMT1E, DSS" 601097 17p11.2 multiple 1341 "Rubenstein-Taybi syndrome, 180849 (3)" "CREBBP, CBP, RSTS" 600140 16p13.3 multiple 1341 "Rubinstein-Taybi syndrome, 180849 (3)" EP300 602700 22q13 multiple 1344 "Saethre-Chotzen syndrome, 101400 (3)" "FGFR2, BEK, CFD1, JWS" 176943 10q26 Developmental 1344 "Saethre-Chotzen syndrome, 101400 (3)" "TWIST, ACS3, SCS" 601622 7p21 Developmental 1344 "Saethre-Chotzen syndrome with eyelid anomalies, 101400 (3)" "TWIST, ACS3, SCS" 601622 7p21 Developmental 1345 Salivary adenoma (3) "HMGA2, HMGIC, BABL, LIPO" 600698 12q14.3 Cancer 1346 "Salla disease, 604369 (3)" "SLC17A5, SIASD, SLD" 604322 6q14-q15 Metabolic 1347 "Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)" HEXB 606873 5q13 Metabolic 1348 "Sanfilippo syndrome, type A, 252900 (3)" "SGSH, MPS3A, SFMD" 605270 17q25.3 Metabolic 1348 "Sanfilippo syndrome, type B (3)" NAGLU 252920 17q21 Metabolic 1349 "Sarcoidosis, early-onset, 181000 (3)" "CARD15, NOD2, IBD1, CD, ACUG, PSORAS1" 605956 16q12 Immunological 1349 "Sarcoidosis, susceptibility to, 181000 (3)" BTNL2 606000 6p21.3 Immunological 1349 "Sarcoidosis, susceptibility to, 181000 (3)" HLA-DR1B 142857 6p21.3 Immunological 1350 "Sarcoma, synovial (3)" "SSX1, SSRC" 312820 Xp11.2 Cancer 1350 "Sarcoma, synovial (3)" SSX2 300192 Xp11.2 Cancer 1352 "SARS, progression of (3)" "ACE, DCP1, ACE1" 106180 17q23 Immunological 1354 "Schimke immunoosseous dysplasia, 242900 (3)" "SMARCAL1, HARP, SIOD" 606622 2q34-q36 Connective tissue disorder 1355 "Schindler disease, type I, 609241 (3)" NAGA 104170 22q11 Metabolic 1355 "Schindler disease, type III, 609241 (3)" NAGA 104170 22q11 Metabolic 1357 "Schizencephaly, 269160 (3)" EMX2 600035 10q26.1 Neurological 1359 "Schizoaffective disorder, susceptibility to, 181500 (3)" DISC1 605210 1q42.1 Psychiatric 1359 "Schizophrenia 5, 603175 (3)" TRAR4 608923 6q23.2 Psychiatric 1359 "Schizophrenia, chronic (3)" "APP, AAA, CVAP, AD1" 104760 21q21 Psychiatric 1359 "Schizophrenia, susceptibility to, 181500 (3)" COMT 116790 22q11.2 Psychiatric 1359 "Schizophrenia, susceptibility to, 181500 (3)" DISC1 605210 1q42.1 Psychiatric 1359 "Schizophrenia, susceptibility to, 181500 (3)" HTR2A 182135 13q14-q21 Psychiatric 1359 "Schizophrenia, susceptibility to, 181500 (3)" "RTN4R, NOGOR" 605566 22q11 Psychiatric 1359 "Schizophrenia, susceptibility to, 181500 (3)" SYN2 600755 3p25 Psychiatric 1359 "Schizophrenia, susceptibility to, 181510 (3)" "EPN4, EPNR, KIAA0171, SCZD1" 607265 5q33.3 Psychiatric 1359 "Schizophrenia, susceptibility to, 4 600850 (3)" "PRODH, PRODH2, SCZD4" 606810 22q11.2 Psychiatric 1360 "Schwannomatosis, 162091 (3)" NF2 607379 22q12.2 Cancer 1361 "Schwartz-Jampel syndrome, type 1, 255800 (3)" "HSPG2, PLC, SJS, SJA, SJS1" 142461 1p36.1 multiple 1362 "SCID, autosomal recessive, T-negative/B-positive type (3)" "JAK3, JAKL" 600173 19p13.1 Immunological 1363 "Sclerosteosis, 269500 (3)" SOST 605740 17q12-q21 Skeletal 1365 Scurvy (3) "GULOP, GULO" 240400 8p21.1 Nutritional 1366 "Sea-blue histiocyte disease, 269600 (3)" "APOE, AD2" 107741 19q13.2 Hematological 1367 "Seasonal affective disorder, susceptibility to, 608516 (3)" HTR2A 182135 13q14-q21 Psychiatric 1368 "Sebastian syndrome, 605249 (3)" "MYH9, MHA, FTNS, DFNA17" 160775 22q11.2 Hematological 1369 "Seckel syndrome 1, 210600 (3)" "ATR, FRP1, SCKL" 601215 3q22-q24 Developmental 1370 "Segawa syndrome, recessive (3)" "TH, TYH" 191290 11p15.5 Neurological 1371 "Seizures, afebrile, 604233 (3)" "SCN2A1, SCN2A" 182390 2q23-q24.3 Neurological 1371 "Seizures, benign familial neonatal-infantile, 607745 (3)" "SCN2A1, SCN2A" 182390 2q23-q24.3 Neurological 1372 Selective T-cell defect (3) "ZAP70, SRK, STD" 176947 2q12 Immunological 1373 "Self-healing collodion baby, 242300 (3)" "TGM1, ICR2, LI1" 190195 14q11.2 Dermatological 1374 "SEMD, Pakistani type (3)" "PAPSS2, ATPSK2" 603005 10q22-q24 Connective tissue disorder 1375 "Senior-Loken syndrome-1, 266900 (3)" "NPHP1, NPH1, SLSN1" 607100 2q13 Renal 1375 "Senior-Loken syndrome 4, 606996 (3)" "NPHP4, SLSN4" 607215 1p36 Renal 1375 "Senior-Loken syndrome 5, 609254 (3)" "IQCB1, NPHP5, KIAA0036" 609237 3q21.1 Renal 1376 "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, 157640 (3)" "POLG, POLG1, POLGA, PEO" 174763 15q25 Ophthamological 1377 Sepiapterin reductase deficiency (3) SPR 182125 2p14-p12 Metabolic 1378 "Sepsis, susceptibility to (3)" "CASP12, CASP12P1" 608633 11q22.3 Immunological 1378 "Septic shock, susceptibility to (3)" "TNF, TNFA" 191160 6p21.3 Immunological 1380 "Septooptic dysplasia, 182230 (3)" "HESX1, RPX" 601802 3p21.2-p21.1 multiple 1381 "Sertoli cell-only syndrome, susceptibility to, 305700 (3)" USP26 300309 Xq26.2 Renal 1383 "Severe combined immunodeficiency, Athabascan type, 602450 (3)" "DCLRE1C, ARTEMIS, SCIDA" 605988 10p Immunological 1383 "Severe combined immunodeficiency, B cell-negative, 601457 (3)" RAG1 179615 11p13 Immunological 1383 "Severe combined immunodeficiency, B cell-negative, 601457 (3)" RAG2 179616 11p13 Immunological 1383 "Severe combined immunodeficiency due to ADA deficiency, 102700 (3)" ADA 608958 20q13.11 Immunological 1383 Severe combined immunodeficiency due to PTPRC deficiency (3) "PTPRC, CD45, LCA" 151460 1q31-q32 Immunological 1383 "Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 600802 (3)" IL7R 146661 5p13 Immunological 1383 "Severe combined immunodeficiency, T-negative/B-positive type, 600802 (3)" "CD3D, T3D" 186790 11q23 Immunological 1383 "Severe combined immunodeficiency, X-linked, 300400 (3)" "IL2RG, SCIDX1, SCIDX, IMD4" 308380 Xq13 Immunological 1384 "Sex reversal, XY, with adrenal failure (3)" "FTZF1, FTZ1, SF1" 184757 9q33 Unclassified 1385 Sezary syndrome (3) BCL10 603517 1p22 Cancer 1386 "Shah-Waardenburg syndrome, 277580 (3)" EDN3 131242 20q13.2-q13.3 multiple 1387 "Short stature, autosomal dominant, with normal serum growth hormone binding protein (3)" GHR 600946 5p13-p12 Skeletal 1387 "Short stature, idiopathic (3)" GHR 600946 5p13-p12 Skeletal 1387 "Short stature, idiopathic familial, 604271 (3)" "SHOX, GCFX, SS, PHOG" 312865 Xpter-p22.32 Skeletal 1387 "Short stature, idiopathic familial, 604271 (3)" SHOXY 400020 Ypter-p11.2 Skeletal 1387 "Short stature, pituitary and cerebellar defects, and small sella turcica, 606606 (3)" LHX4 602146 1q25 Skeletal 1388 "Shprintzen-Goldberg syndrome, 182212 (3)" "FBN1, MFS1, WMS" 134797 15q21.1 multiple 1389 "Shwachman-Diamond syndrome, 260400 (3)" "SBDS, SDS" 607444 7q11 multiple 1391 "Sialic acid storage disorder, infantile, 269920 (3)" "SLC17A5, SIASD, SLD" 604322 6q14-q15 Metabolic 1391 "Sialidosis, type I, 256550 (3)" "NEU1, NEU, SIAL1" 608272 6p21.3 Metabolic 1391 "Sialidosis, type II, 256550 (3)" "NEU1, NEU, SIAL1" 608272 6p21.3 Metabolic 1392 "Sialuria, 269921 (3)" "GNE, GLCNE, IBM2, DMRV, NM" 603824 9p12-p11 Metabolic 1393 Sickle cell anemia (3) HBB 141900 11p15.5 Hematological 1394 "Sick sinus syndrome, 608567 (3)" "SCN5A, LQT3, IVF, HB1, SSS1" 600163 3p21 Cardiovascular 1396 "Silver spastic paraplegia syndrome, 270685 (3)" "BSCL2, SPG17" 606158 11q13 Neurological 1397 "Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)" "GPC3, SDYS, SGBS1" 300037 Xq26 multiple 1398 "Sitosterolemia, 210250 (3)" ABCG5 605459 2p21 Metabolic 1398 "Sitosterolemia, 210250 (3)" ABCG8 605460 2p21 Metabolic 1399 Situs ambiguus (3) NODAL 601265 Chr.10 Developmental 1399 "Situs inversus viscerum, 270100 (3)" "DNAH11, DNAHC11" 603339 Chr.7 Developmental 1400 "Sjogren-Larsson syndrome, 270200 (3)" "ALDH3A2, ALDH10, SLS, FALDH" 609523 17p11.2 Metabolic 1401 "Skin fragility-woolly hair syndrome, 607655 (3)" "DSP, KPPS2, PPKS2" 125647 6p24 Dermatological 1403 Slow acetylation (3) "NAT2, AAC2" 243400 8p23.1-p21.3 Metabolic 1404 "Slowed nerve conduction velocity, AD, 608236 (3)" "ARHGEF10, KIAA0294" 608136 8p23 Neurological 1406 "Small patella syndrome, 147891 (3)" TBX4 601719 17q21-q22 Skeletal 1408 "SMED Strudwick type, 184250 (3)" COL2A1 120140 12q13.11-q13.2 Skeletal 1409 "Smith-Fineman-Myers syndrome, 309580 (3)" "ATRX, XH2, XNP, MRXS3, SHS" 300032 Xq13 multiple 1410 "Smith-Lemli-Opitz syndrome, 270400 (3)" "DHCR7, SLOS" 602858 11q12-q13 multiple 1411 "Smith-Magenis syndrome, 182290 (3)" "RAI1, SMCR, SMS" 607642 17p11.2 multiple 1412 "Smith-McCort dysplasia, 607326 (3)" "DYM, FLJ90130, DMC, SMC" 607461 18q12-q21.1 Skeletal 1414 "Solitary median maxillary central incisor, 147250 (3)" "SHH, HPE3, HLP3, SMMCI" 600725 7q36 Skeletal 1415 Somatotrophinoma (3) "GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO" 139320 20q13.2 Endocrine 1416 "Sorsby fundus dystrophy, 136900 (3)" "TIMP3, SFD" 188826 22q12.1-q13.2 Ophthamological 1417 "Sotos syndrome, 117550 (3)" "NSD1, ARA267, STO" 606681 5q35 Developmental 1418 "Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)" "SACS, ARSACS" 604490 13q12 Neurological 1418 "Spastic paralysis, infantile onset ascending, 607225 (3)" "ALS2, ALSJ, PLSJ, IAHSP" 606352 2q33 Neurological 1418 "Spastic paraplegia 10, 604187 (3)" "KIF5A, NKHC, SPG10" 602821 12q13 Neurological 1418 "Spastic paraplegia-13, 605280 (3)" "HSPD1, SPG13, HSP60" 118190 2q33.1 Neurological 1418 "Spastic paraplegia-2, 312920 (3)" "PLP1, PMD" 300401 Xq22 Neurological 1418 "Spastic paraplegia-3A, 182600 (3)" SPG3A 606439 14q11-q21 Neurological 1418 "Spastic paraplegia-4, 182601 (3)" "SPG4, SPAST" 604277 2p22-p21 Neurological 1418 "Spastic paraplegia-6, 600363 (3)" "NIPA1, SPG6" 608145 15q11.1 Neurological 1418 "Spastic paraplegia-7, 607259 (3)" "PGN, SPG7, CMAR, CAR" 602783 16q24.3 Neurological 3419 "Specific granule deficiency, 245480 (3)" "CEBPE, CRP1" 600749 14q11.2 Immunological 1419 "Speech-language disorder-1, 602081 (3)" "FOXP2, SPCH1, TNRC10, CAGH44" 605317 7q31 Neurological 1422 "Spermatogenic failure, susceptibility to (3)" "DAZL, DAZH, SPGYLA" 601486 3p24 Renal 1423 Spherocytosis-1 (3) SPTB 182870 14q22-q23.2 Hematological 1423 Spherocytosis-2 (3) "ANK1, SPH2" 182900 8p11.2 Hematological 1423 "Spherocytosis, hereditary (3)" "SLC4A1, AE1, EPB3" 109270 17q21-q22 Hematological 1423 "Spherocytosis, hereditary, Japanese type (3)" EPB42 177070 15q15 Hematological 1423 "Spherocytosis, recessive (3)" SPTA1 182860 1q21 Hematological 1425 "Spina bifida, 601634 (3)" "MTHFD, MTHFC" 172460 14q24 Developmental 1425 "Spina bifida, risk of, 601634, 182940 (3)" MTR 156570 1q43 Developmental 1425 "Spina bifida, risk of, 601634, 182940 (3)" MTRR 602568 5p15.3-p15.2 Developmental 1426 "Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)" "AR, DHTR, TFM, SBMA, KD, SMAX1" 313700 Xq11-q12 Muscular 1426 "Spinal muscrular atrophy, late-onset, Finkel type, 182980 (3)" "VAPB, VAPC, ALS8" 605704 20q13.3 Muscular 1426 "Spinal muscular atrophy-1, 253300 (3)" "SMN1, SMA1, SMA2, SMA3, SMA4" 600354 5q12.2-q13.3 Muscular 1426 "Spinal muscular atrophy-2, 253550 (3)" "SMN1, SMA1, SMA2, SMA3, SMA4" 600354 5q12.2-q13.3 Muscular 1426 "Spinal muscular atrophy-3, 253400 (3)" "SMN1, SMA1, SMA2, SMA3, SMA4" 600354 5q12.2-q13.3 Muscular 1426 "Spinal muscular atrophy-4, 271150 (3)" "SMN1, SMA1, SMA2, SMA3, SMA4" 600354 5q12.2-q13.3 Muscular 1426 "Spinal muscular atrophy, distal, type V, 600794 (3)" "BSCL2, SPG17" 606158 11q13 Muscular 1426 "Spinal muscular atrophy, distal, type V, 600794 (3)" "GARS, SMAD1, CMT2D" 600287 7p15 Muscular 1426 "Spinal muscular atrophy, juvenile (3)" HEXB 606873 5q13 Muscular 1426 "Spinal muscular atrophy with respiratory distress, 604320 (3)" "IGHMBP2, SMUBP2, CATF1, SMARD1" 600502 11q13.2-q13.4 Muscular 1428 Spinocerebellar ataxia-10 (3) "ATXN10, SCA10" 603516 22q13 Neurological 1428 "Spinocerebellar ataxia-1, 164400 (3)" "ATXN1, ATX1, SCA1" 601556 6p23 Neurological 1428 "Spinocerebellar ataxia 12, 604326 (3)" PPP2R2B 604325 5q31-q33 Neurological 1428 "Spinocerebellar ataxia 14, 605361 (3)" "PRKCG, PKCC, PKCG, SCA14" 176980 19q13.4 Neurological 1428 "Spinocerebellar ataxia 17, 607136 (3)" "TBP, SCA17" 600075 6q27 Neurological 1428 "Spinocerebellar ataxia-2, 183090 (3)" "ATXN2, ATX2, SCA2" 601517 12q24 Neurological 1428 Spinocerebellar ataxia 25 (3) SCA25 608703 2p21-p13 Neurological 1428 "Spinocerebellar ataxia-27, 609307 (3)" "FGF14, FHF4, SCA27" 601515 13q34 Neurological 1428 "Spinocerebellar ataxia 4, pure Japanese type, 117210 (3)" PLEKHG4 609526 16q22.1 Neurological 1428 "Spinocerebellar ataxia-6, 183086 (3)" "CACNA1A, CACNL1A4, SCA6" 601011 19p13 Neurological 1428 "Spinocerebellar ataxia-7, 164500 (3)" "ATXN7, SCA7, OPCA3" 607640 3p21.1-p12 Neurological 1428 "Spinocerebellar ataxia 8, 608768 (3)" SCA8 603680 13q21 Neurological 1428 "Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)" TDP1 607198 14q31-q32 Neurological 1430 "Split hand/foot malformation, type 3, 600095 (3)" "SHFM3, DAC" 608071 10q24 Skeletal 1430 "Split-hand/foot malformation, type 4, 605289 (3)" "TP73L, TP63, KET, EEC3, SHFM4, LMS, RHS" 603273 3q27 Skeletal 1432 "Spondylocarpotarsal synostosis syndrome, 272460 (3)" "FLNB, SCT, AOI" 603381 3p14.3 Skeletal 1433 "Spondylocostal dysostosis, autosomal recessive, 1, 277300 (3)" "DLL3, SCDO1" 602768 19q13 Skeletal 1433 "Spondylocostal dysostosis, autosomal recessive 2, 608681 (3)" MESP2 605195 15q26.1 Skeletal 1435 "Spondyloepimetaphyseal dysplasia, 608728 (3)" "MATN3, EDM5, HOA" 602109 2p24-p23 Skeletal 1435 "Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)" "AGC1, CSPG1, MSK16, SEDK" 155760 15q26.1 Skeletal 1435 "Spondyloepiphyseal dysplasia, Omani type, 608637 (3)" "CHST3, C6ST, C6ST1" 603799 10q22.1 Skeletal 1435 "Spondyloepiphyseal dysplasia tarda, 313400 (3)" "SEDL, SEDT" 300202 Xp22.2-p22.1 Skeletal 1435 "Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)" "WISP3, PPAC, PPD" 603400 6q22-q23 Skeletal 1436 "Spondylometaphyseal dysplasia, Japanese type (3)" COL10A1 120110 6q21-q22.3 Skeletal 1437 "Squamous cell carcinoma, burn scar-related, somatic (3)" "TNFRSF6, APT1, FAS, CD95, ALPS1A" 134637 10q24.1 Cancer 1437 "Squamous cell carcinoma, head and neck, 601400 (3)" ING1 601566 13q34 Cancer 1437 "Squamous cell carcinoma, head and neck, 601400 (3)" "TNFRSF10B, DR5, TRAILR2" 603612 8p22-p21 Cancer 1438 "Stapes ankylosis syndrome without symphalangism, 184460 (3)" "NOG, SYM1, SYNS1" 602991 17q22 multiple 1439 "Stargardt disease-1, 248200 (3)" "ABCA4, ABCR, STGD1, FFM, RP19" 601691 1p21-p13 Ophthamological 1439 "Stargardt disease 3, 600110 (3)" "ELOVL4, ADMD, STGD2, STGD3" 605512 6q14 Ophthamological 1440 "Startle disease, autosomal recessive (3)" "GLRA1, STHE" 138491 5q32 Neurological 1440 "Startle disease/hyperekplexia, autosomal dominant, 149400 (3)" "GLRA1, STHE" 138491 5q32 Neurological 1441 "STAT1 deficiency, complete (3)" STAT1 600555 2q32.2-q32.3 Unclassified 1442 "Statins, attenuated cholesterol lowering by (3)" HMGCR 142910 5q13.3-q14 Metabolic 1444 "Steatocystoma multiplex, 184500 (3)" "KRT17, PC2, PCHC1" 148069 17q12-q21 Dermatological 1445 Stem-cell leukemia/lymphoma syndrome (3) "ZNF198, SCLL, RAMP, FIM" 602221 13q11-q12 Cancer 1446 "Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to, 608579 (3)" HLA-B 142830 6p21.3 Dermatological 1447 "Stickler syndrome, type I, 108300 (3)" COL2A1 120140 12q13.11-q13.2 multiple 1447 "Stickler syndrome, type II, 604841 (3)" "COL11A1, STL2" 120280 1p21 multiple 1447 "Stickler syndrome, type III, 184840 (3)" "COL11A2, STL3, DFNA13" 120290 6p21.3 multiple 1449 "Stomach cancer, 137215 (3)" "KRAS2, RASK2" 190070 12p12.1 Cancer 1454 "Stroke, susceptibility to, 1, 606799 (3)" "PDE4D, DPDE3, STRK1" 600129 5q12 Cardiovascular 1454 "Stroke, susceptibility to, 601367 (3)" "ALOX5AP, FLAP" 603700 13q12 Cardiovascular 1455 "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)" "LIFR, STWS, SWS, SJS2" 151443 5p13.1 multiple 1456 "Subcortical laminal heteropia, X-linked, 300067 (3)" "DCX, DBCN, LISX" 300121 Xq22.3-q23 Neurological 1456 Subcortical laminar heterotopia (3) "PAFAH1B1, LIS1" 601545 17p13.3 Neurological 1457 Succinic semialdehyde dehydrogenase deficiency (3) SSADH 271980 6p22 Metabolic 1458 Sucrose intolerance (3) SI 222900 3q25-q26 Metabolic 1459 "Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)" "TSPYL1, TSPYL, SIDDT" 604714 6q22-q23 Unclassified 1460 "Sulfite oxidase deficiency, 272300 (3)" SUOX 606887 Chr.12 Metabolic 1461 "Superoxide dismutase, elevated extracellular (3)" SOD3 185490 4p15.3-p15.1 Unclassified 1462 "Supranuclear palsy, progressive, 601104 (3)" "MAPT, MTBT1, DDPAC, MSTD" 157140 17q21.1 Neurological 1462 "Supranuclear palsy, progressive atypical, 260540 (3)" "MAPT, MTBT1, DDPAC, MSTD" 157140 17q21.1 Neurological 1463 "Supravalvar aortic stenosis, 185500 (3)" ELN 130160 7q11.2 Cardiovascular 1464 "Surfactant deficiency, neonatal, 267450 (3)" "ABCA3, ABC3" 601615 16p13.3 Respiratory 1464 Surfactant protein C deficiency (3) "SFTPC, SFTP2" 178620 8p21 Respiratory 1465 "Sutherland-Haan syndrome-like, 300465 (3)" "ATRX, XH2, XNP, MRXS3, SHS" 300032 Xq13 multiple 1466 Sweat chloride elevation without CF (3) "CFTR, ABCC7, CF, MRP7" 602421 7q31.2 Unclassified 1467 "Symphalangism, proximal, 185800 (3)" "NOG, SYM1, SYNS1" 602991 17q22 Skeletal 1468 "Syndactyly, type III, 186100 (3)" "GJA1, CX43, ODDD, SDTY3, ODOD" 121014 6q21-q23.2 Skeletal 1469 "Synostoses syndrome, multiple, 1, 186500 (3)" "NOG, SYM1, SYNS1" 602991 17q22 multiple 1470 "Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (3)" FBLN1 135820 22q13.3 Skeletal 1470 "Synpolydactyly, type II, 186000 (3)" "HOXD13, HOX4I, SPD" 142989 2q31-q32 Skeletal 1470 "Synpolydactyly with foot anomalies, 186000 (3)" "HOXD13, HOX4I, SPD" 142989 2q31-q32 Skeletal 1471 "Systemic lupus erythematosus, susceptibility, 152700 (3)" "TNFSF6, APT1LG1, FASL" 134638 1q23 Immunological 1471 "Systemic lupus erythematosus, susceptibility to, 152700 (3)" "DNASE1, DNL1" 125505 16p13.3 Immunological 1471 "Systemic lupus erythematosus, susceptibility to, 152700 (3)" "PTPN8, PEP, PTPN22, LYP" 600716 1p13 Immunological 1471 "Systemic lupus erythematosus, susceptibility to, 2, 605218, 152700 (3)" "PDCD1, SLEB2" 600244 2q37.3 Immunological 1472 "Tall stature, susceptibility to (3)" MCM6 601806 2q21 Skeletal 1473 "Tangier disease, 205400 (3)" "ABCA1, ABC1, HDLDT1, TGD" 600046 9q22-q31 Metabolic 1475 "Tarsal-carpal coalition syndrome, 186570 (3)" "NOG, SYM1, SYNS1" 602991 17q22 Skeletal 1476 Tauopathy and respiratory failure (3) "MAPT, MTBT1, DDPAC, MSTD" 157140 17q21.1 Neurological 1477 "Tay-Sachs disease, 272800 (3)" "HEXA, TSD" 606869 15q23-q24 Metabolic 1478 T-cell acute lymphoblastic leukemia (3) BAX 600040 19q13.3-q13.4 Cancer 3478 "T-cell immunodeficiency, congenital alopecia, and nail dystrophy (3)" WHN 600838 17q11-q12 Immunological 1478 "T-cell prolymphocytic leukemia, sporadic (3)" "ATM, ATA, AT1" 607585 11q22.3 Cancer 1480 "Temperature-sensitive apoptosis, cellular (3)" DAD1 600243 14q11-q12 Unclassified 1482 "Tetra-amelia, autosomal recessive, 273395 (3)" "WNT3, INT4" 165330 17q21 multiple 1483 "Tetralogy of Fallot, 187500 (3)" "JAG1, AGS, AHD" 601920 20p12 Cardiovascular 1483 "Tetralogy of Fallot, 187500 (3)" "ZFPM2, FOG2" 603693 8q23 Cardiovascular 1483 "Tetrology of Fallot, 187500 (3)" "NKX2E, CSX" 600584 5q34 Cardiovascular 1486 "Thalassemia, alpha- (3)" HBA2 141850 16pter-p13.3 Hematological 1486 "Thalassemia-beta, dominant inclusion-body, 603902 (3)" HBB 141900 11p15.5 Hematological 1486 "Thalassemia, delta- (3)" HBD 142000 11p15.5 Hematological 1486 Thalassemia due to Hb Lepore (3) HBD 142000 11p15.5 Hematological 1486 "Thalassemia, Hispanic gamma-delta-beta (3)" LCRB 152424 11p15.5 Hematological 1486 "Thalassemias, alpha- (3)" HBA1 141800 16pter-p13.3 Hematological 1486 "Thalassemias, beta- (3)" HBB 141900 11p15.5 Hematological 1490 "Thanatophoric dysplasia, types I and II, 187600 (3)" "FGFR3, ACH" 134934 4p16.3 Skeletal 1491 "Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)" "SLC19A2, THTR1" 603941 1q23.3 Hematological 1493 "Thrombocythemia, essential, 187950 (3)" JAK2 147796 9p24 Hematological 1493 "Thrombocythemia, essential, 187950 (3)" "THPO, MGDF, MPLLG, TPO" 600044 3q26.3-q27 Hematological 1494 "Thrombocytopenia-2, 188000 (3)" "FLJ14813, THC2" 608221 10p12.1 Hematological 1494 "Thrombocytopenia, congenital amegakaryocytic, 604498 (3)" "MPL, TPOR, MPLV" 159530 1p34 Hematological 1494 "Thrombocytopenia, X-linked, 313900 (3)" "WAS, IMD2, THC" 300392 Xp11.23-p11.22 Hematological 1494 "Thrombocytopenia, X-linked, intermittent, 313900 (3)" "WAS, IMD2, THC" 300392 Xp11.23-p11.22 Hematological 1494 Thromboembolism susceptibility due to factor V Leiden (3) F5 227400 1q23 Hematological 1497 Thrombophilia due to factor V Liverpool (3) F5 227400 1q23 Hematological 1497 Thrombophilia due to heparin cofactor II deficiency (3) "HCF2, HC2, SERPIND1" 142360 22q11 Hematological 1497 Thrombophilia due to HRG deficiency (3) HRG 142640 3q27 Hematological 1497 Thrombophilia due to protein C deficiency (3) PROC 176860 2q13-q14 Hematological 1497 Thrombophilia due to thrombomodulin defect (3) "THBD, THRM" 188040 20p11.2 Hematological 1497 "Thrombophilia, dysfibrinogenemic (3)" FGB 134830 4q28 Hematological 1497 "Thrombophilia, dysfibrinogenemic (3)" FGG 134850 4q28 Hematological 1497 "Thrombosis, hyperhomocysteinemic (3)" CBS 236200 21q22.3 Hematological 1497 "Thrombotic thrombocytopenic purpura, familial, 274150 (3)" "ADAMTS13, VWFCP, TTP" 604134 9q34 Hematological 1494 "Thrombycytosis, susceptibility to, 187950 (3)" "MPL, TPOR, MPLV" 159530 1p34 Hematological 1502 Thymine-uraciluria (3) "DPYD, DPD" 274270 1p22 Metabolic 1503 "Thyroid adenoma, hyperfunctioning (3)" TSHR 603372 14q31 Cancer 1503 Thyroid carcinoma (3) "TP53, P53, LFS1" 191170 17p13.1 Cancer 1503 "Thyroid carcinoma, follicular, 188470 (3)" "MINPP1, HIPER1" 605391 10q23 Cancer 1503 "Thyroid carcinoma, follicular, 188470 (3)" "PTEN, MMAC1" 601728 10q23.31 Cancer 1503 "Thyroid carcinoma, follicular, somatic, 188470 (3)" HRAS 190020 11p15.5 Cancer 1503 "Thyroid carcinoma, papillary, 188550 (3)" "GOLGA5, RFG5, PTC5" 606918 14q Cancer 1503 "Thyroid carcinoma, papillary, 188550 (3)" "NCOA4, ELE1, PTC3" 601984 10q11.2 Cancer 1503 "Thyroid carcinoma, papillary, 188550 (3)" "PCM1, PTC4" 600299 8p22-p21.3 Cancer 1503 "Thyroid carcinoma, papillary, 188550 (3)" "PRKAR1A, TSE1, CNC1, CAR" 188830 17q23-q24 Cancer 1503 "Thyroid carcinoma, papillary, 188550 (3)" "TIF1G, RFG7, PTC7" 605769 1p13 Cancer 1503 "Thyroid carcinoma, papillary, 188550 (3)" "TRIM24, TIF1, TIF1A, PTC6" 603406 7q32-q34 Cancer 3503 "Thyroid hormone organification defect IIA, 274500 (3)" "TPO, TPX" 606765 2p25 Endocrine 3503 "Thyroid hormone resistance, 188570 (3)" "THRB, ERBA2, THR1" 190160 3p24.3 Endocrine 3503 "Thyroid hormone resistance, autosomal recessive, 274300 (3)" "THRB, ERBA2, THR1" 190160 3p24.3 Endocrine 1504 "Thyrotoxic periodic paralysis, susceptibility to, 188580 (3)" "CACNA1S, CACNL1A3, CCHL1A3" 114208 1q32 Endocrine 1505 "Thyrotropin-releasing hormone resistance, generalized (3)" TRHR 188545 8q23 Endocrine 1506 Thyroxine-binding globulin deficiency (3) TBG 314200 Xq22.2 Hematological 1508 "Tietz syndrome, 103500 (3)" "MITF, WS2A" 156845 3p14.1-p12.3 multiple 1509 "Timothy syndrome, 601005 (3)" "CACNA1C, CACNL1A1, CCHL1A1, TS" 114205 12p13.3 multiple 1510 "Toenail dystrophy, isolated, 607523 (3)" COL7A1 120120 3p21.3 Dermatological 1511 Tolbutamide poor metabolizer (3) CYP2C9 601130 10q24 Unclassified 3512 "Total iodide organification defect, 274500 (3)" "TPO, TPX" 606765 2p25 Endocrine 1514 "Townes-Brocks branchiootorenal-like syndrome, 107480 (3)" "SALL1, HSAL1, TBS" 602218 16q12.1 multiple 1514 "Townes-Brocks syndrome, 107480 (3)" "SALL1, HSAL1, TBS" 602218 16q12.1 multiple 1515 "Transaldolase deficiency, 606003 (3)" TALDO1 602063 11p15.5-p15.4 Metabolic 1516 Transcobalamin II deficiency (3) "TCN2, TC2" 275350 22q11.2-qter Hematological 1518 "Transient bullous of the newborn, 131705 (3)" COL7A1 120120 3p21.3 Dermatological 1519 "Transposition of great arteries, dextro-looped, 217095 (3)" "CFC1, CRYPTIC, HTX2" 605194 2q21.1 Developmental 1519 "Transposition of the great arteries, dextro-looped, 608808 (3)" "THRAP2, PROSIT240, TRAP240L, KIAA1025" 608771 12q24 Developmental 1520 "Treacher Collins mandibulofacial dysostosis, 154500 (3)" "TCOF1, MFD1" 606847 5q32-q33.1 Developmental 1521 "Tremor, familial essential, 2, 602134 (3)" "HS1BP3, FLJ14249, ETM2" 609359 2p24.1 Neurological 1522 "Trichodontoosseous syndrome, 190320 (3)" "DLX3, TDO" 600525 17q21.3-q22 multiple 1524 "Trichorhinophalangeal syndrome, type I, 190350 (3)" TRPS1 604386 8q24.12 Developmental 1524 "Trichorhinophalangeal syndrome, type III, 190351 (3)" TRPS1 604386 8q24.12 Developmental 1525 Trichothiodystrophy (3) "ERCC3, XPB" 133510 2q21 Dermatological 1525 "Trichothiodystrophy, 601675 (3)" "ERCC2, EM9" 126340 19q13.2-q13.3 Dermatological 1525 "Trichothiodystrophy, complementation group A, 601675 (3)" "TGF2H5, TTDA, TFB5, C6orf175" 608780 6p25.3 Dermatological 1525 "Trichothiodystrophy, nonphotosensitive 1, 234050 (3)" "TTDN1, C7orf11, ABHS" 609188 7p14 Dermatological 1526 "Trifunctional protein deficiency, type 1 (3)" "HADHA, MTPA" 600890 2p23 Metabolic 1526 "Trifunctional protein deficiency, type II (3)" HADHB 143450 2p23 Metabolic 1528 "Trismus-pseudocomptodactyly syndrome, 158300 (3)" MYH8 160741 17p13.1 multiple 1529 "Tropical calcific pancreatitis, 608189 (3)" "SPINK1, PSTI, PCTT, TATI" 167790 5q32 Gastrointestinal 1530 "Troyer syndrome, 275900 (3)" SPG20 607111 13q12.3 Neurological 1534 "TSC2 angiomyolipomas, renal, modifier of, 191100 (3)" IFNG 147570 12q14 multiple 1533 "Tuberculosis, susceptibility to (3)" IFNGR1 107470 6q23-q24 Respiratory 1533 "Tuberculosis, susceptibility to, 607948 (3)" IFNG 147570 12q14 Respiratory 1534 "Tuberous sclerosis-1, 191100 (3)" "TSC1, LAM" 605284 9q34 multiple 1534 "Tuberous sclerosis-2, 191100 (3)" "TSC2, LAM" 191092 16p13.3 multiple 1536 "Turcot syndrome, 276300 (3)" "APC, GS, FPC" 175100 5q21-q22 Cancer 1536 "Turcot syndrome with glioblastoma, 276300 (3)" "MLH1, COCA2, HNPCC2" 120436 3p21.3 Cancer 1536 "Turcot syndrome with glioblastoma, 276300 (3)" "PMS2, PMSL2, HNPCC4" 600259 7p22 Cancer 1538 "Twinning, dizygotic, 276400 (3)" "FSHR, ODG1" 136435 2p21-p16 Unclassified 1540 "Tyrosinemia, type I (3)" FAH 276700 15q23-q25 Metabolic 1540 "Tyrosinemia, type II (3)" TAT 276600 16q22.1-q22.3 Metabolic 1540 "Tyrosinemia, type III (3)" HPD 276710 12q24-qter Metabolic 1542 "Ullrich congenital muscular dystrophy, 254090 (3)" "COL6A1, OPLL" 120220 21q22.3 Muscular 1542 "Ullrich congenital muscular dystrophy, 254090 (3)" COL6A3 120250 2q37 Muscular 1542 "Ullrich scleroatonic muscular dystrophy, 254090 (3)" COL6A2 120240 21q22.3 Muscular 1543 "Ulnar-mammary syndrome, 181450 (3)" TBX3 601621 12q24.1 multiple 1544 "Unipolar depression, susceptibility to, 608516 (3)" "TPH2, NTPH" 607478 12q21.1 Psychiatric 1545 "Unna-Thost disease, nonepidermolytic, 600962 (3)" KRT1 139350 12q13 Dermatological 1550 "Urolithiasis, 2,8-dihydroxyadenine (3)" APRT 102600 16q24.3 Metabolic 1550 "Urolithiasis, hypophosphatemic (3)" "SLC17A2, NPT2" 182309 5q35 Metabolic 1551 "Usher syndrome, type 1B (3)" "MYO7A, USH1B, DFNB2, DFNA11" 276903 11q13.5 multiple 1551 "Usher syndrome, type 1C, 276904 (3)" "USH1C, DFNB18" 605242 11p15.1 multiple 1551 "Usher syndrome, type 1D, 601067 (3)" "CDH23, USH1D" 605516 10q21-q22 multiple 1551 "Usher syndrome, type 1F, 602083 (3)" "PCDH15, DFNB23" 605514 10q21-q22 multiple 1551 "Usher syndrome, type 1G, 606943 (3)" "SANS, USH1G" 607696 17q24-q25 multiple 1551 "Usher syndrome, type 2A, 276901 (3)" USH2A 608400 1q41 multiple 1551 "Usher syndrome, type 3, 276902 (3)" "USH3A, USH3" 606397 3q21-q25 multiple 1551 "Usher syndrome, type IIC, 605472 (3)" "MASS1, VLGR1, KIAA0686, FEB4, USH2C" 602851 5q14 multiple 1552 Uterine leiomyoma (3) "HMGA2, HMGIC, BABL, LIPO" 600698 12q14.3 Cancer 1553 "UV-induced skin damage, vulnerability to (3)" MC1R 155555 16q24.3 Dermatological 1554 "van Buchem disease, type 2, 607636 (3)" "LRP5, BMND1, LRP7, LR3, OPPG, VBCH2" 603506 11q13.4 Unclassified 3554 "van der Woude syndrome, 119300 (3)" "IRF6, VWS, LPS, PIT, PPS, OFC6" 607199 1q32-q41 Developmental 1555 "VATER association with hydrocephalus, 276950 (3)" "PTEN, MMAC1" 601728 10q23.31 multiple 1556 "Velocardiofacial syndrome, 192430 (3)" "TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR" 602054 22q11.2 multiple 1557 "Venous malformations, multiple cutaneous and mucosal, 600195 (3)" "TEK, TIE2, VMCM" 600221 9p21 Cardiovascular 1557 "Venous thrombosis, susceptibility to (3)" "SERPINA10, ZPI" 605271 14q32.1 Cardiovascular 3558 "Ventricular fibrillation, idiopathic, 603829 (3)" "SCN5A, LQT3, IVF, HB1, SSS1" 600163 3p21 Cardiovascular 1558 "Ventricular tachycardia, idiopathic, 192605 (3)" "GNAI2, GNAI2B, GIP" 139360 3p21 Cardiovascular 1558 "Ventricular tachycardia, stress-induced polymorphic, 604772 (3)" CASQ2 114251 1p13.3-p11 Cardiovascular 1558 "Ventricular tachycardia, stress-induced polymorphic, 604772 (3)" "RYR2, VTSIP" 180902 1q42.1-q43 Cardiovascular 1559 "Vertical talus, congenital, 192950 (3)" "HOXD10, HOX4D" 142984 2q31-q32 Skeletal 1562 "Viral infections, recurrent (3)" "FCGR3A, CD16, IGFR3" 146740 1q23 Immunological 1562 "Viral infection, susceptibility to (3)" "OAS1, OIAS" 164350 12q24.2 Immunological 1563 "Virilization, maternal and fetal, from placental aromatase deficiency (3)" "CYP19A1, CYP19, ARO" 107910 15q21.1 Developmental 1565 "Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)" "VKORC1, VKOR, VKCFD2, FLJ00289" 608547 16p11.2 Hematological 1565 "Vitamin K-dependent coagulation defect, 277450 (3)" GGCX 137167 2p12 Hematological 1566 "Vitelliform macular dystrophy, adult-onset, 608161 (3)" VMD2 607854 11q13 Ophthamological 1570 "VLCAD deficiency, 201475 (3)" "ACADVL, VLCAD" 609575 17p13 Metabolic 1571 "Vohwinkel syndrome, 124500 (3)" "GJB2, CX26, DFNB1, PPK, DFNA3, KID, HID" 121011 13q11-q12 multiple 1571 "Vohwinkel syndrome with ichthyosis, 604117 (3)" LOR 152445 1q21 multiple 1572 "von Hippel-Lindau disease, modification of, 193300 (3)" "CCND1, PRAD1, BCL1" 168461 11q13 Cancer 1572 "von Hippel-Lindau syndrome, 193300 (3)" VHL 608537 3p26-p25 Cancer 3572 von Willebrand disease (3) "VWF, F8VWF" 193400 12p13.3 Hematological 1573 "Waardenburg-Shah syndrome, 277580 (3)" "EDNRB, HSCR2, ABCDS" 131244 13q22 multiple 1573 "Waardenburg-Shah syndrome, 277580 (3)" "SOX10, WS4" 602229 22q13 multiple 1574 "Waardenburg syndrome/albinism, digenic, 103470 (3)" TYR 606933 11q14-q21 multiple 1574 "Waardenburg syndrome/ocular albinism, digenic, 103470 (3)" "MITF, WS2A" 156845 3p14.1-p12.3 multiple 1574 "Waardenburg syndrome, type I, 193500 (3)" "PAX3, WS1, HUP2, CDHS" 606597 2q35 multiple 1574 "Waardenburg syndrome, type IIA, 193510 (3)" "MITF, WS2A" 156845 3p14.1-p12.3 multiple 1574 "Waardenburg syndrome, type III, 148820 (3)" "PAX3, WS1, HUP2, CDHS" 606597 2q35 multiple 1574 "Waardenburg syndrome, typ IID, 608890 (3)" "SNAI2, SLUG, WS2D" 602150 8q11 multiple 1575 "Wagner syndrome, 143200 (3)" COL2A1 120140 12q13.11-q13.2 Ophthamological 1576 "WAGR syndrome, 194072 (3)" WT1 607102 11p13 multiple 1578 "Walker-Warburg syndrome, 236670 (3)" FCMD 607440 9q31 multiple 1578 "Walker-Warburg syndrome, 236670 (3)" POMT1 607423 9q34.1 multiple 1578 "Warburg micro syndrome 1, 600118 (3)" "RAB3GAP, WARBM1, P130" 602536 2q21.3 multiple 1580 "Warfarin resistance, 122700 (3)" "VKORC1, VKOR, VKCFD2, FLJ00289" 608547 16p11.2 Hematological 1580 "Warfarin sensitivity, 122700 (3)" CYP2C9 601130 10q24 Hematological 1580 Warfarin sensitivity (3) "F9, HEMB" 306900 Xq27.1-q27.2 Hematological 1581 "Watson syndrome, 193520 (3)" "NF1, VRNF, WSS, NFNS" 162200 17q11.2 Cancer 1582 "Weaver syndrome, 277590 (3)" "NSD1, ARA267, STO" 606681 5q35 Developmental 1583 Wegener-like granulomatosis (3) "TAP2, ABCB3, PSF2, RING11" 170261 6p21.3 Immunological 1585 "Weill-Marchesani syndrome, dominant, 608328 (3)" "FBN1, MFS1, WMS" 134797 15q21.1 Connective tissue disorder 1585 "Weill-Marchesani syndrome, recessive, 277600 (3)" "ADAMTS10, WMS" 608990 19p13.3-p13.2 Connective tissue disorder 1586 "Weissenbacher-Zweymuller syndrome, 277610 (3)" "COL11A2, STL3, DFNA13" 120290 6p21.3 Connective tissue disorder 1588 "Werner syndrome, 277700 (3)" "RECQL2, RECQ3, WRN" 604611 8p12-p11.2 multiple 1589 "Wernicke-Korsakoff syndrome, susceptibility to, 277730 (3)" TKT 606781 3p14.3 Metabolic 1590 "Weyers acrodental dysostosis, 193530 (3)" EVC 604831 4p16 Skeletal 1591 "WHIM syndrome, 193670 (3)" "CXCR4, D2S201E, NPY3R, WHIM" 162643 2q21 Immunological 1592 "White sponge nevus, 193900 (3)" KRT13 148065 17q21-q22 Connective tissue disorder 1592 "White sponge nevus, 193900 (3)" "KRT4, CYK4" 123940 12q13 Connective tissue disorder 1594 "Williams-Beuren syndrome, 194050 (3)" ELN 130160 7q11.2 multiple 1595 "Wilms tumor, 194070 (3)" "BRCA2, FANCD1" 600185 13q12.3 Cancer 1595 "Wilms tumor, somatic, 194070 (3)" "GPC3, SDYS, SGBS1" 300037 Xq26 Cancer 1595 "Wilms tumor susceptibility-5, 601583 (3)" "POU6F2, WTSL, WT5" 609062 7p14-p13 Cancer 1595 "Wilms tumor, type 1, 194070 (3)" WT1 607102 11p13 Cancer 1596 "Wilson disease, 277900 (3)" "ATP7B, WND" 606882 13q14.3-q21.1 Metabolic 1598 "Wiskott-Aldrich syndrome, 301000 (3)" "WAS, IMD2, THC" 300392 Xp11.23-p11.22 Immunological 1599 "Witkop syndrome, 189500 (3)" "MSX1, HOX7, HYD1, OFC5" 142983 4p16.1 Developmental 1600 "Wolcott-Rallison syndrome, 226980 (3)" "EIF2AK3, PEK, PERK, WRS" 604032 2p12 Bone 1601 "Wolff-Parkinson-White syndrome, 194200 (3)" "PRKAG2, WPWS" 602743 7q36 Cardiovascular 1603 "Wolfram syndrome, 222300 (3)" "WFS1, WFRS, WFS, DFNA6" 606201 4p16.1 Metabolic 1604 Wolman disease (3) LIPA 278000 10q24-q25 Metabolic 1607 "Xanthinuria, type I, 278300 (3)" XDH 607633 2p23-p22 Metabolic 1608 "Xeroderma pigmentosum, group A (3)" XPA 278700 9q22.3 Dermatological 1608 "Xeroderma pigmentosum, group B (3)" "ERCC3, XPB" 133510 2q21 Dermatological 1608 "Xeroderma pigmentosum, group C (3)" "XPC, XPCC" 278720 3p25 Dermatological 1608 "Xeroderma pigmentosum, group D, 278730 (3)" "ERCC2, EM9" 126340 19q13.2-q13.3 Dermatological 1608 "Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)" DDB2 600811 11p12-p11 Dermatological 1608 "Xeroderma pigmentosum, group F, 278760 (3)" "ERCC4, XPF" 133520 16p13.3-p13.13 Dermatological 1608 "Xeroderma pigmentosum, group G, 278780 (3)" "ERCC5, XPG" 133530 13q33 Dermatological 1608 "Xeroderma pigmentosum, variant type, 278750 (3)" "POLH, XPV" 603968 6p21.1-p12 Dermatological 1610 "X-inactivation, familial skewed, 300087 (3)" "XIC, XCE, XIST, SXI1" 314670 Xq13.2 Unclassified 1611 "XLA and isolated growth hormone deficiency, 307200 (3)" "BTK, AGMX1, IMD1, XLA, AT" 300300 Xq21.3-q22 Immunological 1613 "Yellow nail syndrome, 153300 (3)" "FOXC2, FKHL14, MFH1" 602402 16q24.3 Immunological 1614 "Yemenite deaf-blind hypopigmentation syndrome, 601706 (3)" "SOX10, WS4" 602229 22q13 multiple 1615 "Zellweger syndrome-1, 214100 (3)" "PEX1, ZWS1" 602136 7q21-q22 multiple 1615 "Zellweger syndrome, 214100 (3)" "PEX10, NALD" 602859 Chr.1 multiple 1615 "Zellweger syndrome, 214100 (3)" "PEX13, ZWS, NALD" 601789 2p15 multiple 1615 "Zellweger syndrome, 214100 (3)" PEX14 601791 1p36.2 multiple 1615 "Zellweger syndrome, 214100 (3)" PEX26 608666 22q11.21 multiple 1615 "Zellweger syndrome, 214100 (3)" "PXF, HK33, D1S2223E, PEX19" 600279 1q22 multiple 1615 "Zellweger syndrome, 214100 (3)" "PXR1, PEX5, PTS1R" 600414 12p13.3 multiple 1615 Zellweger syndrome-2 (3) "ABCD3, PXMP1, PMP70" 170995 1p22-p21 multiple 1615 Zellweger syndrome-3 (3) "PXMP3, PAF1, PMP35, PEX2" 170993 8q21.1 multiple 1615 "Zellweger syndrome, complementation group 9 (3)" PEX16 603360 11p12-p11.2 multiple 1615 "Zellweger syndrome, complementation group G, 214100 (3)" PEX3 603164 6q23-q24 multiple 1617 "Zlotogora-Ogur syndrome, 225000 (3)" "HVEC, PVRL1, PVRR1, PRR1" 600644 11q23-q24 multiple