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 c 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 
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 
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 
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 
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 
315 Chondrodysplasia punctata, X-linked dominant, 302960 (3) EBP, CDPX2, CPXD, CPX 300205 Xp11.23-p11.22 Connective tissue 
315 Chondrodysplasia punctata, X-linked recessive, 302950 (3) ARSE, CDPX1, CDPXR 300180 Xp22.3 Connective tissue 
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 
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 
395 Cutis laxa, autosomal dominant, 123700 (3) FBLN5, ARMD3 604580 14q32.1 Connective tissue 
395 Cutis laxa, autosomal recessive, 219100 (3) FBLN5, ARMD3 604580 14q32.1 Connective tissue 
395 Cutis laxa, neonatal (3) ATP7A, MNK, MK, OHS 300011 Xq12-q13 Connective tissue 
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 
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 
470 Ehlers-Danlos syndrome, hypermobility type, 130020 (3) TNXB, TNX, TNXB1, TNXBS, TNXB2 600985 6p21.3 Connective tissue 
470 Ehlers-Danlos syndrome, progeroid form, 130070 (3) B4GALT7, XGALT1, XGPT1 604327 5q35.2-q35.3 Connective tissue 
470 Ehlers-Danlos syndrome, type I, 130000 (3) COL1A1 120150 17q21.31-q22 Connective tissue 
470 Ehlers-Danlos syndrome, type I, 130000 (3) COL5A1 120215 9q34.2-q34.3 Connective tissue 
470 Ehlers-Danlos syndrome, type I, 130000 (3) COL5A2 120190 2q31 Connective tissue 
470 Ehlers-Danlos syndrome, type II, 130010 (3) COL5A1 120215 9q34.2-q34.3 Connective tissue 
470 Ehlers-Danlos syndrome, type III, 130020 (3) COL3A1 120180 2q31 Connective tissue 
470 Ehlers-Danlos syndrome, type IV, 130050 (3) COL3A1 120180 2q31 Connective tissue 
470 Ehlers-Danlos syndrome, type VI, 225400 (3) PLOD, PLOD1 153454 1p36.3-p36.2 Connective tissue 
470 Ehlers-Danlos syndrome, type VII, 130060 (3) COL1A1 120150 17q21.31-q22 Connective tissue 
470 Ehlers-Danlos syndrome, type VIIA2, 130060 (3) COL1A2 120160 7q22.1 Connective tissue 
470 Ehlers-Danlos syndrome, type VIIC, 225410 (3) ADAMTS2, NPI 604539 5q23 Connective tissue 
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 
537 Fibromatosis, juvenile hyaline, 228600 (3) ANTXR2, CMG2, JHF, ISH 608041 4q21 Connective tissue 
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 
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, LFTYA 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 
910 Loeys-Dietz syndrome, 609192 (3) TGFBR2, HNPCC6 190182 3p22 Connective tissue 
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 
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 
950 Marfan syndrome, atypical (3) COL1A2 120160 7q22.1 Connective tissue 
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 
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 
997 Metaphyseal chondrodysplasia, Schmid type (3) COL10A1 120110 6q21-q22.3 Connective tissue 
997 Metaphyseal dysplasia without hypotrichosis, 250460 (3) RMRP, RMRPR, CHH 157660 9p21-p12 Connective tissue 
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 
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 
1154 Osteoarthritis, hand, susceptibility to, 607850 (3) MATN3, EDM5, HOA 602109 2p24-p23 Connective tissue 
1154 Osteoarthritis of hip, female-specific, susceptibility to, 165720 (3) FRZB, FRZB1, SRFP3 605083 2q31-q33 Connective tissue 
1154 Osteoarthritis, susceptibility to, 165720 (3) ASPN, PLAP1 608135 9q21.3-q22 Connective tissue 
1154 Osteoarthrosis, 165720 (3) COL2A1 120140 12q13.11-q13.2 Connective tissue 
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 
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 
1285 Pseudoxanthoma elasticum, autosomal recessive, 264800 (3) ABCC6, ARA, ABC34, MLP1, PXE 603234 16p13.1 Connective tissue 
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 
1324 Rheumatoid arthritis, susceptibility to, 180300 (3) MHC2TA, C2TA 600005 16p13 Connective tissue 
1324 Rheumatoid arthritis, susceptibility to, 180300 (3) NFKBIL1 601022 6p21.3 Connective tissue 
1324 Rheumatoid arthritis, susceptibility to, 180300 (3) PADI4, PADI5, PAD 605347 1p36 Connective tissue 
1324 Rheumatoid arthritis, susceptibility to, 180300 (3) PTPN8, PEP, PTPN22, LYP 600716 1p13 Connective tissue 
1324 Rheumatoid arthritis, susceptibility to, 180300 (3) RUNX1, CBFA2, AML1 151385 21q22.3 Connective tissue 
1324 Rheumatoid arthritis, susceptibility to, 180300 (3) SLC22A4, OCTN1 604190 5q31 Connective tissue 
1324 Rheumatoid arthritis, systemic juvenile, susceptibility to, 604302 (3) MIF 153620 22q11.2 Connective tissue 
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 
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 
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 
1585 Weill-Marchesani syndrome, recessive, 277600 (3) ADAMTS10, WMS 608990 19p13.3-p13.2 Connective tissue 
1586 Weissenbacher-Zweymuller syndrome, 277610 (3) COL11A2, STL3, DFNA13 120290 6p21.3 Connective tissue 
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 
1592 White sponge nevus, 193900 (3) KRT4, CYK4 123940 12q13 Connective tissue 
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 
