3-Methylcrotonylglycinuria I (3) |MCCC1, MCCA|210200|3q25-q27 3-Methylcrotonylglycinuria II (3) |MCCC2, MCCB|210210|5q12-q13 3-beta-hydroxysteroid dehydrogenase, type II, deficiency (3) |HSD3B2|201810|1p13.1 3-ketothiolase deficiency (3) |ACAT1|203750|11q22.3-q23.1 3-methylglutaconicaciduria, type III, 258501 (3) |OPA3, MGA3|606580|19q13.2-q13.3 3q21q26 syndrome (1) |EVI1|165215|3q26 5-oxoprolinuria, 266130 (3) |GSS, GSHS|601002|20q11.2 6-mercaptopurine sensitivity (3) |TPMT|187680|6p22.3 ABCD syndrome, 600501 (3) |EDNRB, HSCR2, ABCDS|131244|13q22 ACAT2 deficiency (1) (?) |ACAT2|100678|6q25.3-q26 ACTH deficiency (1) |POMC|176830|2p23.3 ACTH deficiency, 201400 (2) |CRH|122560|8q13 ADULT syndrome, 103285 (3) |TP63, KET, EEC3, SHFM4|603273|3q27 AGAT deficiency (3) |GATM, AGAT|602360|15q15.3 Aarskog-Scott syndrome (3) |FGD1, FGDY, AAS|305400|Xp11.21 Abdominal obesity-metabolic syndrome (2) |AOMS1, SYNX|605552|3q27 Abdominal obesity-metabolic syndrome, 605552 (2) |AOMS2|605572|17p12 Abetalipoproteinemia (3) |APOB, FLDB|107730|2p24 Abetalipoproteinemia, 200100 (3) |MTP|157147|4q22-q24 Acampomelic campolelic dysplasia (3) |SOX9, CMD1, SRA1|114290|17q24.3-q25.1 Acatalasemia (3) |CAT|115500|11p13 Acetyl-CoA carboxylase deficiency (1) |ACACA, ACAC, ACC1|200350|17q21 Achalasia-addisonianism-alacrimia syndrome, 231550 (3) |AAAS, AAA|605378|12q13 Acheiropody, 200500 (3) |C7orf2, ACHP, LMBR1|605522|7q36 Achondrogenesis Ib, 600972 (3) |SLC26A2, DTD, DTDST, D5S1708, EDM4|606718|5q32-q33.1 Achondrogenesis-hypochondrogenesis, type II, 200610 (3) |COL2A1|120140|12q13.11-q13.2 Achondroplasia, 100800 (3) |FGFR3, ACH|134934|4p16.3 Achromatopsia-1 (2) |ACHM1, RMCH1|603096|Chr.14 Achromatopsia-2, 216900 (3) |CNGA3, CNG3, ACHM2|600053|2q11 Achromatopsia-3, 262300 (3) |CNGB3, ACHM3|605080|8q21-q22 Acrocallosal syndrome (2) (?) |ACLS|200990|12p13.3-p11.2 Acrodermatitis enteropathica, 201100 (3) |SLC39A4, ZIP4|607059|8q24.3 Acrodermatitis enteropathica, zinc-deficiency type (2) |AEZ|201100|8q24.3 Acrofacial dysostosis, Nager type (2) (?) |AFD1, AFDN|154400|9q32 Acromegaloid features, overgrowth, cleft palate, and hernia (2) |AOCH|606049|Chr.11 Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3) |GDF5, CDMP1|601146|20q11.2 Acromesomelic dysplasia, Maroteaux type (2) |AMDM|602875|9p13-p12 Acropectoral syndrome (2) |ACRPS|605967|7q36 Acute insulin response (2) |AIR|601676|1p31 Acyl-CoA dehydrogenase, long chain, deficiency of (3) |ACADL, LCAD|201460|2q34-q35 Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3) |ACADM, MCAD|607008|1p31 Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3) |ACADS, SCAD|606885|12q22-qter Adenoma, periampullary (3) |APC, GS, FPC|175100|5q21-q22 Adenomatous polyposis coli (3) |APC, GS, FPC|175100|5q21-q22 Adenomatous polyposis coli, attenuated (3) |APC, GS, FPC|175100|5q21-q22 Adenylosuccinase deficiency (1) |ADSL|103050|22q13.1 Adhalinopathy, primary (1) |SGCA, ADL, DAG2, LGMD2D|600119|17q12-q21.33 Adiponectin deficiency (3) |APM1, GBP28|605441|3q27 Adrenal adenoma, sporadic (3) |MEN1|131100|11q13 Adrenal cortical carcinoma, 202300 (3) |TP53, P53|191170|17p13.1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (3) |CYP11B1, P450C11, FHI|202010|8q21 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency (3) |CYP17, P450C17|202110|10q24.3 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (3) |CYP21A2, CYP21, CA21H|201910|6p21.3 Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism (3) |DAX1, AHC, AHX, NROB1|300200|Xp21.3-p21.2 Adrenocortical carcinoma, hereditary, 202300 (2) |MTACR1, WT2|194071|11p15.5 Adrenocortical insufficiency without ovarian defect (3) |FTZF1, FTZ1, SF1|184757|9q33 Adrenocorticotropic hormone deficiency, 201400 (3) |TBS19|604614|1q23-q24 Adrenoleukodystrophy (3) |ABCD1, ALD, AMN|300100|Xq28 Adrenoleukodystrophy, neonatal, 202370 (3) |PEX1, ZWS1|602136|7q21-q22 Adrenoleukodystrophy, neonatal, 202370 (3) |PEX10, NALD|602859|Chr.1 Adrenoleukodystrophy, neonatal, 202370 (3) |PEX13, ZWS, NALD|601789|2p15 Adrenoleukodystrophy, neonatal, 202370 (3) |PXR1, PEX5, PTS1R|600414|12p13.3 Adrenoleukodystrophy, pseudoneonatal (2) |ACOX1, ACOX|264470|17q25 Adrenomyeloneuropathy (3) |ABCD1, ALD, AMN|300100|Xq28 Advanced sleep phase syndrome, familial, 604348 (3) |PER2, FASPS, KIAA0347|603426|2q37.3 Afibrinogenemia, 202400 (3) |FGA|134820|4q28 Afibrinogenemia, congenital, 202400 (3) |FGB|134830|4q28 Agammaglobulinemia, 601495 (3) |IGHM, MU|147020|14q32.33 Agammaglobulinemia, autosomal recessive (3) |IGLL1, IGO, IGL5|146770|22q11.21 Agammaglobulinemia, type 1, X-linked (3) |BTK, AGMX1, IMD1, XLA, AT|300300|Xq21.3-q22 Agammaglobulinemia, type 2, X-linked (2) |AGMX2, XLA2, IMD6|300310|Xp22 Aicardi syndrome (2) |AIC|304050|Xp22 Aicardi-Goutieres syndrome 1 (2) |AGS1|225750|3p21 Alagille syndrome, 118450 (3) |JAG1, AGS, AHD|601920|20p12 Albinism, brown oculocutaneous, (3) |OCA2, P, PED, D15S12, BOCA|203200|15q11.2-q12 Albinism, brown, 203290 (1) |TYRP1, CAS2, GP75|115501|9p23 Albinism, ocular, autosomal recessive (3) |OCA2, P, PED, D15S12, BOCA|203200|15q11.2-q12 Albinism, oculocutaneous, type IA, 203100 (3) |TYR|606933|11q14-q21 Albinism, oculocutaneous, type IB, 606952 (3) |TYR|606933|11q14-q21 Albinism, oculocutaneous, type II (3) |OCA2, P, PED, D15S12, BOCA|203200|15q11.2-q12 Albinism, rufous, 278400 (3) |TYRP1, CAS2, GP75|115501|9p23 Albinism-deafness syndrome (2) |ADFN, ALDS|300700|Xq26.3-q27.1 Albright hereditary osteodystrophy-2 (2) (?) |AHO2|103581|15q11-q13 Alcohol intolerance, acute (3) |ALDH2|100650|12q24.2 Aldolase A deficiency (3) |ALDOA|103850|16q22-q24 Aldosteronism, glucocorticoid-remediable, 103900 (3) |CYP11B1, P450C11, FHI|202010|8q21 Alexander disease, 203450 (3) |GFAP|137780|17q21 Alexander disease, 203450 (3) |NDUFV1, UQOR1|161015|11q13 Alkaptonuria (3) |HGD, AKU|203500|3q21-q23 Allan-Herndon syndrome (2) |AHDS|309600|Xq21 Alopecia universalis, 203655 (3) |HR, AU|602302|8p21.2 Alpha-1-antichymotrypsin deficiency (3) |SERPINA3, AACT, ACT|107280|14q32.1 Alpha-ketoglutarate dehydrogenase deficiency (1) |OGDH|203740|7p14-p13 Alpha-methylacyl-CoA racemase deficiency (3) |AMACR|604489|5p13.2-q11.1 Alpha-thalassemia/mental retardation syndrome, 301040 (3) |ATRX, XH2, XNP, MRXS3|300032|Xq13 Alpha-thalassemia/mental retardation syndrome, type 1 (1) |HBHR, ATR1|141750|16pter-p13.3 Alport syndrome, 301050 (3) |COL4A5, ATS, ASLN|303630|Xq22.3 Alport syndrome, autosomal recessive, 203780 (3) |COL4A3|120070|2q36-q37 Alport syndrome, autosomal recessive, 203780 (3) |COL4A4|120131|2q36-q37 Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, 300194 (2) |AMMECR1|300195|Xq22.3 Alstrom syndrome, 203800 (3) |ALMS1, ALSS, KIAA0328|606844|2p13 Alzheimer disease 6, 104300 (2) |AD6|605526|10q24 Alzheimer disease, familial, with spastic paraparesis and unusual plaques (3) |PSEN1, AD3|104311|14q24.3 Alzheimer disease-1, APP-related (3) |APP, AAA, CVAP, AD1|104760|21q21 Alzheimer disease-2, late onset (2) |AD2|104310|19cen-q13.2 Alzheimer disease-3 (3) |PSEN1, AD3|104311|14q24.3 Alzheimer disease-4, 104300 (3) |PSEN2, AD4, STM2|600759|1q31-q42 Alzheimer disease-5 (2) |AD5|602096|12p11.23-q13.12 Amelogenesis imperfecta 2, hypoplastic local, 104500 (3) |ENAM|606585|4q21 Amelogenesis imperfecta, 301200 (3) |AMELX, AMG, AIH1, AMGX|300391|Xp22.3-p22.1 Amelogenesis imperfecta-2, hypoplastic local type (2) |AIH2|104500|4q11-q21 Amelogenesis imperfecta-3, hypoplastic type (2) (?) |AIH3|301201|Xq22-q28 Amyloid neuropathy, familial, several allelic types (3) |TTR, PALB|176300|18q11.2-q12.1 Amyloidosis, 3 or more types (3) |APOA1|107680|11q23 Amyloidosis, Finnish type, 105120 (3) |GSN|137350|9q34 Amyloidosis, cerebroarterial, Dutch type (3) |APP, AAA, CVAP, AD1|104760|21q21 Amyloidosis, hereditary renal, 105200 (3) |FGA|134820|4q28 Amyloidosis, renal, 105200 (3) |LYZ|153450|Chr.12 Amyloidosis, senile systemic (3) |TTR, PALB|176300|18q11.2-q12.1 Amyotrophic lateral sclerosis with frontotemporal dementia (2) |ALSFTD|105550|9q21-q22 Amyotrophic lateral sclerosis, 105400 (2) |ALS6|606640|18q21 Amyotrophic lateral sclerosis, juvenile, 205100 (3) |ALS2, ALSJ, PLSJ|606352|2q33 Amyotrophic lateral sclerosis-4, juvenile dominant (2) |ALS4|602433|9q34 Amytrophic lateral sclerosis, due to SOD1 deficiency, 105400 (3) |SOD1, ALS1|147450|21q22.1 Amytrophic lateral sclerosis-5, juvenile recessive (2) |ALS5|602099|15q15.1-q21.1 Anal canal carcinoma (2) (?) |ANC|105580|11q22-qter Analbuminemia (3) |ALB|103600|4q11-q13 Andermann syndrome (2) |ACCPN|218000|15q13-q15 Androgen insensitivity, 300068 (3) |AR, DHTR, TFM, SBMA, KD|313700|Xq11-q12 Anemia, Diamond-Blackfan, 105650 (2) |DBA2|606129|8p23.3-p22 Anemia, Diamond-Blackfan, 105650 (3) |RPS19, DBA|603474|19q13.2 Anemia, hemolytic, Rh-null, regulator type, 268150 (3) |RHAG, RH50A|180297|6p21.1-p11 Anemia, hemolytic, due to PK deficiency (3) |PKLR, PK1|266200|1q21 Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3) |NT5C3, UMPH1, PSN1|606224|7p15-p14 Anemia, megaloblastic, due to DHFR deficiency (1) (?) |DHFR|126060|5q11.2-q13.2 Anemia, neonatal hemolytic, fatal and near-fatal (3) |SPTB|182870|14q22-q23.2 Anemia, pernicious, congenital, due to deficiency of intrinsic factor (1) |GIF|261000|11q13 Anemia, sideroblastic, with ataxia, 301310 (3) |ABCB7, ABC7, ASAT|300135|Xq13.1-q13.3 Anemia, sideroblastic/hypochromic (3) |ALAS2, ASB, ANH1|301300|Xp11.21 Aneurysm, familial arterial (3) |COL3A1|120180|2q31 Aneurysm, intracranial berry (2) |AIB|105800|7q11.2 Aneurysmal bone cysts (2) |ANBC|606179|16q22 Angelman syndrome, 105830 (3) |MECP2, RTT, PPMX, MRX16|300005|Xq28 Angelman syndrome, 105830 (3) |UBE3A, ANCR|601623|15q11-q13 Angioedema, hereditary, 106100 (3) |C1NH|606860|11q11-q13.1 Angiofibroma, sporadic (3) |MEN1|131100|11q13 Angioneurotic edema, hereditary, X-linked (2) |HAEX|300268|Chr.X Aniridia (3) |PAX6, AN2|106210|11p13 Anisomastia (2) |ANMA|605746|16q13-q21 Ankylosing spondylitis (2) |AS, ANS|106300|6p21.3 Anophthalmos-1 (2) (?) |ANOP1|301590|Xq27-q28 Anterior segment anomalies and cataract (3) |EYA1, BOR|601653|8q13.3 Anterior segment mesenchymal dysgenesis (3) |FOXC1, FKHL7, FREAC3|601090|6p25 Anterior segment mesenchymal dysgenesis and cataract, 107250 (3) |PITX3|602669|10q25 Anterior segment mesenchymal dysgenesis, 107250 (3) |FOXE3, FKHL12, ASMD|601094|1p32 Antithrombin III deficiency (3) |AT3|107300|1q23-q25 Antley-Bixler syndrome, 207410 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Anxiety-related personality traits (3) |SLC6A4, HTT|182138|17q11.1-q12 Aortic aneurysm, familial thoracic 1 (2) |AAT1, FAA1|607086|11q23.3-q24 Aortic aneurysm, familial thoracic 2 (2) |AAT2, FAA2|607087|5q13-q14 Apert syndrome, 101200 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Apnea, postanesthetic (3) |BCHE, CHE1|177400|3q26.1-q26.2 ApoA-I and apoC-III deficiency, combined (3) |APOA1|107680|11q23 Apolipoprotein A-II deficiency (3) |APOA2|107670|1q21-q23 Apparent mineralocorticoid excess, hypertension due to (3) |HSD11B2, HSD11K|218030|16q22 Argininemia (3) |ARG1|207800|6q23 Argininosuccinicaciduria (3) |ASL|207900|7cen-q11.2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3) |RYR2, VTSIP|180902|1q42.1-q43 Arrhythmogenic right ventricular dysplasia-1 (2) |ARVD1|107970|14q23-q24 Arrhythmogenic right ventricular dysplasia-2 (2) |ARVD2|600996|1q42-q43 Arrhythmogenic right ventricular dysplasia-3 (2) |ARVD3|602086|14q12-q22 Arrhythmogenic right ventricular dysplasia-4 (2) |ARVD4|602087|2q32.1-q32.3 Arrhythmogenic right ventricular dysplasia-5 (2) |ARVD5, ARVC5|604400|3p23 Arrhythmogenic right ventricular dysplasia-6 (2) |ARVD6|604401|10p14-p12 Arthrogryposis multiplex congenita, distal, type 1 (2) |AMCD1, DA1|108120|9p21-q21 Arthrogryposis multiplex congenita, distal, type 2B (2) |AMCD2B, DA2B, FSSV|601680|11p15.5 Arthrogryposis multiplex congenita, neurogenic (2) |AMCN, AMCN1|208100|5q35 Arthrogryposis, X-linked (spinal muscular atrophy, infantile, X-linked) (2) |AMCX1|301830|Xp11.3-q11.2 Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) |WISP3, PPAC, PPD|603400|6q22-q23 Arts syndrome (2) |ARTS|301835|Xq21.2-q24 Aspartylglucosaminuria (3) |AGA|208400|4q32-q33 Ataxia with isolated vitamin E deficiency, 277460 (3) |TTPA, TTP1, AVED|600415|8q13.1-q13.3 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3) |APTX, AOA, AOA1|606350|9p13.3 Ataxia, episodic (3) |CACNB4|601949|2q22-q23 Ataxia-telangiectasia (3) |ATM, ATA, AT1|208900|11q22.3 Ataxia-telangiectasia-like disorder, 604391 (3) |MRE11A, MRE11, ATLD|600814|11q21 Atelosteogenesis II, 256050 (3) |SLC26A2, DTD, DTDST, D5S1708, EDM4|606718|5q32-q33.1 Atopy (2) |IGER, APY|147050|11q12-q13 Atopy, 147050 (3) |SPINK5, LEKTI|605010|5q32 Atransferrinemia, 209300 (3) |TF|190000|3q21 Atrial septal defect with atrioventricular conduction defects, 108900 (3) |CSX|600584|5q34 Atrial septal defect, secundum type (2) |ASD1, ASD2|108800|6p21.3 Atrichia with papular lesions, 209500 (3) |HR, AU|602302|8p21.2 Atrioventricular canal defect, 600309 (2) |AVSD1, AVCD|606215|1p31-p21 Atrioventricular septal defect, 600309 (2) |AVSD2|606217|3p25 Atrophia areata (2) |AA|108985|11p15 Autism, succinylpurinemic (3) |ADSL|103050|22q13.1 Autoimmune polyglandular disease, type I (3) |AIRE, APECED|240300|21q22.3 Autonomic nervous system dysfunction (3) |DRD4|126452|11p15.5 Axenfeld anomaly (3) |FOXC1, FKHL7, FREAC3|601090|6p25 Azoospermia (3) |USP9Y, DFFRY|400005|Yq11.2 B-cell non-Hodgkin lymphoma, high-grade (3) |BCL7A, BCL7|601406|12q24.1 BCG and salmonella infection, disseminated, 209950 (1) |IL12B, NKSF2|161561|5q31.1-q33.1 BCG infection, generalized familial (3) |IFNGR1|107470|6q23-q24 Bamforth-Lazarus syndrome, 241850 (3) |FOXE1, FKHL15, TITF2, TTF2|602617|9q22 Bannayan-Riley-Ruvalcaba syndrome (3) |PTEN, MMAC1|601728|10q23.31 Bannayan-Zonana syndrome, 153480 (3) |PTEN, MMAC1|601728|10q23.31 Bardet-Biedl syndrome 1, 209900 (2) |BBS1|209901|11q13 Bardet-Biedl syndrome 2, 209900 (3) |BBS2|606151|16q21 Bardet-Biedl syndrome 3, 209900 (2) |BBS3|600151|3p13-p12 Bardet-Biedl syndrome 4, 209900 (3) |BBS4|600374|15q22.3-q23 Bardet-Biedl syndrome 5, 209900 (2) |BBS5|603650|2q31 Bardet-Biedl syndrome 6, 209900 (3) |MKKS, HMCS, KMS, MKS, BBS6|604896|20p12 Bare lymphocyte syndrome, type I, due to TAP2 deficiency (1) |TAP2, ABCB3, PSF2, RING11|170261|6p21.3 Bare lymphocyte syndrome, type II, complementation group D, 209920 (3) |RFXAP|601861|13q14 Barth syndrome, 302060 (3) |TAZ, EFE2, BTHS, CMD3A|300394|Xq28 Bartter syndrome, 241200 (3) |CLCNKB|602023|1p36 Bartter syndrome, antenatal, 601678 (3) |CLCNKB|602023|1p36 Bartter syndrome, antenatal, 601678 (3) |KCNJ1, ROMK1|600359|11q24 Bartter syndrome, antenatal, 601678 (3) |SLC12A1, NKCC2|600839|15q15-q21.1 Bartter syndrome, infantile, with sensorineural deafness, 602522 (3) |BSND|606412|1p31 Basal cell carcinoma (2) (?) |MSSE, ESS1|132800|9q31 Basal cell carcinoma (3) |RASA1, GAP|139150|5q13.3 Basal cell carcinoma, somatic, 605462 (3) |PTCH, NBCCS, BCNS, HPE7|601309|9q22.3 Basal cell carcinoma, somatic, 605462 (3) |PTCH2|603673|1p32 Basal cell carcinoma, sporadic (3) |SMOH, SMO|601500|7q31-q32 Basal cell nevus syndrome (2) |NBCCS, BCNS|109400|9q31 Basal cell nevus syndrome, 109400 (3) |PTCH, NBCCS, BCNS, HPE7|601309|9q22.3 Basal ganglia calcification, idiopathic (2) |BGCI, IBGC1, IBGC2|213600|14q Basal ganglia disease, adult-onset, 606159 (3) |FTL|134790|19q13.3-q13.4 Bazex syndrome (2) |BZX|301845|Xq24-q27 Beare-Stevenson cutis gyrata syndrome, 123790 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Becker muscular dystrophy modifier, 310200 (3) |MYF6|159991|12q21 Becker muscular dystrophy, 300376 (3) |DMD, BMD|300377|Xp21.2 Beckwith-Wiedemann syndrome, 130650 (3) |CDKN1C, KIP2, BWS|600856|11p15.5 Berardinelli-Seip congenital lipodystrophy-1, 269700 (3) |AGPAT2, LPAAB, BSCL, BSCL1|603100|9q34.3 Berardinelli-Seip congenital lipodystrophy-2, 269700 (3) |BSCL2|606158|11q13 Bernard-Soulier syndrome (3) |GP1BA|231200|17pter-p12 Bernard-Soulier syndrome, type B, 231200 (2) |GP1BB|138720|22q11.2 Bernard-Soulier syndrome, type C (3) |GP9|173515|Chr.3 Bethlem myopathy, 158810 (3) |COL6A1|120220|21q22.3 Bethlem myopathy, 158810 (3) |COL6A2|120240|21q22.3 Bethlem myopathy, 158810 (3) |COL6A3|120250|2q37 Bietti crystalline corneoretinal dystrophy (2) |BCD|210370|4q35-qter Bile acid malabsorption, primary (3) |SLC10A2, NTCP2|601295|13q33 Biotinidase deficiency (3) |BTD|253260|3p25 Bipolar affective disorder (2) |MAFD1, BPAD, MD1|125480|18p Birt-Hogg-Dube syndrome (2) |BHD|135150|17p11.2 Bjornstad syndrome (2) |BJS, PTD|262000|2q34-q36 Bladder cancer, 109800 (3) |FGFR3, ACH|134934|4p16.3 Bladder cancer, 109800 (3) |HRAS|190020|11p15.5 Bladder cancer, 109800 (3) |RB1|180200|13q14.1-q14.2 Blau syndrome, 186580 (3) |CARD15, NOD2, IBD1, CD, ACUG|605956|16q12 Bleeding diathesis due to GNAQ deficiency (1) |GNAQ|600998|9q21 Bleeding disorder due to defective thromboxane A2 receptor (3) |TBXA2R|188070|19p13.3 Bleeding disorder, east Texas type (2) |BDET|605913|1q23 Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3) |FOXL2, BPES, BPES1, PFRK|605597|3q23 Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3) |FOXL2, BPES, BPES1, PFRK|605597|3q23 Bloom syndrome, 210900 (3) |RECQ2, BLM, BS, RECQL3|604610|15q26.1 Borjeson-Forssman-Lehmann syndrome (2) |BFLS|301900|Xq26.3 Bornholm eye disease (2) |MYP1, BED|310460|Xq28 Bothnia retinal dystrophy (3) |RLBP1|180090|15q26 Brachydactyly type E (2) (?) |BDE|113300|2q37 Brachydactyly, type A1 (2) |BDA1|112500|2q35-q36 Brachydactyly, type A1, 112500 (2) |BDA1B|607004|5p13.3-p13.2 Brachydactyly, type B1, 113000 (3) |ROR2, BDB1, BDB, NTRKR2|602337|9q22 Brachydactyly, type C (2) |BDC|113100|12q24 Brachydactyly, type C, 113100 (3) |GDF5, CDMP1|601146|20q11.2 Brachydactyly-mental retardation syndrome (2) |BDMR|600430|2q37 Branchiootic syndrome (3) |EYA1, BOR|601653|8q13.3 Branchiootic syndrome 2 (2) |BOS2|120502|1q31 Branchiootorenal syndrome with cataract, 113650 (3) |EYA1, BOR|601653|8q13.3 Branchiootorenal syndrome, 113650 (3) |EYA1, BOR|601653|8q13.3 Breast cancer (1) |BCPR|113721|17p13.3 Breast cancer (1) |ESR1, ESR|133430|6q25.1 Breast cancer (3) |TSG101|601387|11p15.2-p15.1 Breast cancer 2, early onset (3) |BRCA2|600185|13q12.3 Breast cancer, 114480 (3) |RB1CC1, CC1, KIAA0203|606837|8q11 Breast cancer, 114480 (3) |SLC22A1L, BWSCR1A, IMPT1|602631|11p15.5 Breast cancer, 114480 (3) |TP53, P53|191170|17p13.1 Breast cancer, 11:22 translocation associated (1) |BRCATA|600048|11q23 Breast cancer, ductal (2) |BRCD1|211410|Chr.13 Breast cancer, ductal (2) |BRCD2|211420|1p36 Breast cancer, early-onset, 114480 (3) |BRIP1, BACH1|605882|17q22 Breast cancer, invasive intraductal (3) |RAD54L, HR54, HRAD54|603615|1p32 Breast cancer, lobular (3) |CDH1, UVO|192090|16q22.1 Breast cancer, male, with Reifenstein syndrome (3) |AR, DHTR, TFM, SBMA, KD|313700|Xq11-q12 Breast cancer, sporadic (3) |PHB|176705|17q21 Breast cancer, type 3 (2) (?) |BRCA3, BRCAX|605365|13q21 Breast cancer-1 (3) |BRCA1, PSCP|113705|17q21 Breast-ovarian cancer (3) |BRCA1, PSCP|113705|17q21 Brody myopathy, 601003 (3) |ATP2A1, SERCA1|108730|16p12 Bronchial asthma (2) |BHR1|600807|5q31-q33 Bruck syndrome (2) |BRKS, TLH1|259450|17p12 Brugada syndrome, 601144 (3) |SCN5A, LQT3, IVF, HB1|600163|3p21 Brunner syndrome (3) |MAOA|309850|Xp11.23 Burkitt lymphoma, 113970 (3) |MYC|190080|8q24.12-q24.13 Butterfly dystrophy, retinal (3) |RDS, RP7|179605|6p21.1-cen C1q deficiency, type A (3) |C1QA|120550|1p36.3-p34.1 C1q deficiency, type B (3) |C1QB|120570|1p36.3-p34.1 C1q deficiency, type C (3) |C1QG|120575|1p36.3-p34.1 C1r/C1s deficiency, combined (1) |C1R|216950|12p13 C1r/C1s deficiency, combined (1) |C1S|120580|12p13 C1s deficiency, isolated (3) |C1S|120580|12p13 C2 deficiency (3) |C2|217000|6p21.3 C3 deficiency (3) |C3|120700|19p13.3-p13.2 C3b inactivator deficiency (3) |IF|217030|4q25 C4 deficiency (3) |C4A, C4S|120810|6p21.3 C4 deficiency (3) |C4B, C4F|120820|6p21.3 C5 deficiency (1) |C5|120900|9q34.1 C6 deficiency (1) |C6|217050|5p13 C7 deficiency (1) |C7|217070|5p13 C8 deficiency, type I (2) |C8A|120950|1p32 C8 deficiency, type II (3) |C8B|120960|1p32 C9 deficiency (3) |C9|120940|5p13 CD3, zeta chain, deficiency (1) |CD3Z, TCRZ|186780|1q22-q23 CD59 deficiency (3) |CD59, MIC11|107271|11p13 CHILD syndrome, 308050 (3) |NSDHL|300275|Xq28 CPT deficiency, hepatic, type I, 255120 (3) |CPT1A|600528|11q13 CPT deficiency, hepatic, type II, 600649 (3) |CPT2|600650|1p32 CR1 deficiency (1) |CR1, C3BR|120620|1q32 Cafe-au-lait spots with glioma or leukemia, 114030 (3) |MLH1, COCA2, HNPCC2|120436|3p21.3 Cafe-au-lait spots, multiple, with leukemia, 114030 (3) |MSH2, COCA1, FCC1, HNPCC1|120435|2p22-p21 Campomelic dysplasia (3) |SOX9, CMD1, SRA1|114290|17q24.3-q25.1 Campomelic dysplasia with autosomal sex reversal (3) |SOX9, CMD1, SRA1|114290|17q24.3-q25.1 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3) |PRG4, CACP, MSF, SZP|604283|1q24-q25 Camurati-Engelmann disease, 131300 (3) |TGFB1, DPD1, CED|190180|19q13.1 Canavan disease (3) |ASPA|271900|17pter-p13 Candidiasis, familial chronic mucocutaneous, autosomal dominant, with thyroid disease (2) |CMCT|606415|2p Capillary malformations, hereditary (2) |CMAL|163000|5q13-q22 Carbamoylphosphate synthetase I deficiency (3) |CPS1|237300|2q35 Carbohydrate-deficient glycoprotein syndrome, type I, 212065 (3) |PMM2, CDG1|601785|16p13.3-p13.2 Carbohydrate-deficient glycoprotein syndrome, type II, 212066 (3) |MGAT2, CDGS2|602616|14q21 Carbohydrate-deficient glycoprotein syndrome, type Ib, 602579 (3) |MPI, PMI1|154550|15q22-qter Carcinoid tumor of lung (3) |MEN1|131100|11q13 Cardiac valvular dysplasia-1 (2) |CVD1, XMVD|314400|Xq28 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, 604377 (3) |SCO2|604272|22q13 Cardiofaciocutaneous syndrome, 115150 (2) (?) |PTPN11, PTP2C, SHP2, NS1|176876|12q24.1 Cardiomopathy, hypertrophic, mid-ventricular chamber type (3) |MYL3|160790|3p Cardiomyopathy, X-linked dilated, 300069 (3) |TAZ, EFE2, BTHS, CMD3A|300394|Xq28 Cardiomyopathy, dilated 1C (2) |CMD1C, CMPD3|601493|10q21-q23 Cardiomyopathy, dilated, 115200 (3) |ACTC|102540|15q14 Cardiomyopathy, dilated, 1A, 115200 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A|150330|1q21.2 Cardiomyopathy, dilated, 1E (2) |CMD1E, CDCD2, CMPD2|601154|3p25-p22 Cardiomyopathy, dilated, 1F (2) |CMD1F, CDCD3|602067|6q23 Cardiomyopathy, dilated, 1G, 604145 (3) |TTN, CMD1G|188840|2q24.3 Cardiomyopathy, dilated, 1H (2) |CMD1H|604288|2q14-q22 Cardiomyopathy, dilated, 1I, 604765 (3) |DES, CMD1I|125660|2q35 Cardiomyopathy, dilated, 1J (2) |CMD1J|605362|6q23-q24 Cardiomyopathy, dilated, 1K (2) |CMD1K|605582|6q12-q16 Cardiomyopathy, dilated, 1L, 606685 (3) |SGCD, SGD, LGMD2F, CMD1L|601411|5q33 Cardiomyopathy, dilated, X-linked, 302045 (3) |DMD, BMD|300377|Xp21.2 Cardiomyopathy, familial dilated 1B (2) |CMD1B, CMPD1, FDC|600884|9q13 Cardiomyopathy, familial hypertrophic (3) |TNNI3|191044|19q13.4 Cardiomyopathy, familial hypertrophic with Wolff-Parkinson-White syndrome (2) |CMH6|600858|7q3 Cardiomyopathy, familial hypertrophic, 1, 192600 (3) |MYH7, CMH1|160760|14q12 Cardiomyopathy, familial hypertrophic, 192600 (3) |ACTC|102540|15q14 Cardiomyopathy, familial hypertrophic, 192600 (3) |MYH6|160710|14q12 Cardiomyopathy, familial hypertrophic, 2, 115195 (3) |TNNT2, CMH2|191045|1q32 Cardiomyopathy, familial hypertrophic, 3, 115196 (3) |TPM1, CMH3|191010|15q22.1 Cardiomyopathy, familial hypertrophic, 4, 115197 (3) |MYBPC3, CMH4|600958|11p11.2 Cardiomyopathy, familial hypertrophic, 9 (3) |TTN, CMD1G|188840|2q24.3 Cardiomyopathy, familial, dilated-2 (2) |CMD1D, CMPD2|601494|1q32 Cardiomyopathy, hypertrophic, mid-left ventricular chamber type (3) |MYL2|160781|12q23-q24.3 Cardiomyopathy, hypertrophic, midventricular, digenic, 192600 (3) |MYLK2, MLCK|606566|20q13.3 Cardiomyopathy, hypertrophic, with WPW, 600858 (3) |PRKAG2, WPWS|602743|7q36 Carney complex, type 1, 160980 (3) |PRKAR1A, TSE1, CNC1, CAR|188830|17q23-q24 Carney complex, type II (2) |CNC2|605244|2p16 Carnitine acetyltransferase deficiency (1) (?) |CRAT, CAT1|600184|9q34.1 Carnitine deficiency, systemic primary, 212140 (3) |SLC22A5, OCTN2, CDSP, SCD|603377|5q33.1 Carnitine-acylcarnitine translocase deficiency (3) |SLC25A20, CACT, CAC|212138|3p21.31 Carnosinemia (2) |CNSN|212200|18q21.3 Carpal tunnel syndrome, familial (3) |TTR, PALB|176300|18q11.2-q12.1 Cartilage-hair hypoplasia, 250250 (3) |RMRP, RMRPR, CHH|157660|9p21-p12 Cat eye syndrome (2) |CECR, CES|115470|22q11 Cataract, Coppock-like, 604307 (3) |CRYGC, CRYG3, CCL|123680|2q33-q35 Cataract, Marner type (2) |CTM|116800|16q22.1 Cataract, Marner type, 116800 (3) |HSF4, CTM|602438|16q21-q22.1 Cataract, anterior polar-1 (2) (?) |CTAA1|115650|14q24-qter Cataract, anterior polar-2 (2) |CTAA2|601202|17p13 Cataract, autosomal recessive, early-onset, pulverulent (2) |CAAR|605749|9q13-q22 Cataract, central saccular, with sutural opacities (2) |CCSSO|605728|15q21-q22 Cataract, cerulean, type 1 (2) |CCA1|115660|17q24 Cataract, cerulean, type 2, 601547 (3) |CRYBB2, CRYB2|123620|22q11.2-q12.2 Cataract, congenital (2) (?) |SORD, SORD1|182500|15q15.3 Cataract, congenital (3) |PITX3|602669|10q25 Cataract, congenital progressive, autosomal recessive (3) |CRYAA, CRYA1|123580|21q22.3 Cataract, congenital total (2) (?) |CCT|302200|Xp Cataract, congenital zonular, with sutural opacities, 600881 (3) |CRYBA1, CRYB1|123610|17q11.1-q12 Cataract, congenital, 604219 (3) |BFSP2, CP49, CP47|603212|3q21-q25 Cataract, congenital, Volkmann type (2) |CCV|115665|1pter-p36.13 Cataract, congenital, with late-onset corneal dystrophy (3) |PAX6, AN2|106210|11p13 Cataract, congenital, with microphthalmia (2) |CATM|156850|16p13.3 Cataract, crystalline aculeiform, 115700 (3) |CRYGD, CRYG4|123690|2q33-q35 Cataract, juvenile-onset, 604219 (3) |BFSP2, CP49, CP47|603212|3q21-q25 Cataract, lamellar, 116800 (3) |HSF4, CTM|602438|16q21-q22.1 Cataract, polymorphic and lamellar, 604219 (3) |MIP, AQP0|154050|12q13 Cataract, polymorphic congenital (2) |PCC, CCP|601286|2q33-q35 Cataract, posterior polar (2) |CTPP, CPP, CTPA|116600|1pter-p36.1 Cataract, posterior polar 2 (3) |CRYAB, CRYA2, CTPP2|123590|11q22.3-q23.1 Cataract, posterior polar-3 (2) |CTPP3, CPP3|605387|20p12-q12 Cataract, variable zonular pulverulent (3) |CRYGC, CRYG3, CCL|123680|2q33-q35 Cataract, zonular central nuclear, autosomal dominant (3) |CRYAA, CRYA1|123580|21q22.3 Cataract, zonular pulverulent-1, 116200 (3) |GJA8, CX50, CAE1|600897|1q21.1 Cataract, zonular pulverulent-3, 601885 (3) |GJA3, CX46, CZP3, CAE3|121015|13q11 Cataracts, punctate, progressive juvenile-onset (3) |CRYGD, CRYG4|123690|2q33-q35 Celiac disease (2) |GSE, CD|212750|6p21.3 Central core disease, 117000 (3) |RYR1, MHS, CCO|180901|19q13.1 Central core disease, one form (3) (?) |MYH7, CMH1|160760|14q12 Centrocytic lymphoma (2) |CCND1, PRAD1|168461|11q13 Cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities (2) |CAMOS|606937|15q24-q26 Cerebellar ataxia, 604290 (3) |CP|117700|3q23-q24 Cerebellar ataxia, Cayman type (2) |ATCAY, CLAC|601238|19p13.3 Cerebellar ataxia, pure (3) |CACNA1A, CACNL1A4, SCA6|601011|19p13 Cerebellar ataxia-2 (2) |CLA2, OPCA|302500|Xp11.21-q21.3 Cerebral amyloid angiopathy, 105150 (3) |CST3|604312|20p11.2 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, 125310 (3) |NOTCH3, CADASIL, CASIL|600276|19p13.2-p13.1 Cerebral cavernous malformations-1, 116860 (3) |CCM1, CAM, KRIT1|604214|7q11.2-q21 Cerebral cavernous malformations-2 (2) |CCM2|603284|7p15-p13 Cerebral cavernous malformations-3 (2) |CCM3|603285|3q25.2-q27 Cerebral palsy, ataxic, autosomal recessive (2) |ACP|605388|9p12-q12 Cerebrooculofacioskeletal syndrome, 214150 (3) |ERCC2, EM9|126340|19q13.2-q13.3 Cerebrooculofacioskeletal syndrome, 214150 (3) |ERCC5, XPG|133530|13q33 Cerebrooculofacioskeletal syndrome, 214150 (3) |ERCC6, CKN2, COFS|133540|10q11 Cerebrotendinous xanthomatosis, 213700 (3) |CYP27A1, CYP27, CTX|606530|2q33-qter Cerebrovascular disease, occlusive (3) |SERPINA3, AACT, ACT|107280|14q32.1 Ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits (3) |PPT1, CLN1|600722|1p32 Ceroid lipofuscinosis, neuronal-1, infantile, 256730 (3) |PPT1, CLN1|600722|1p32 Ceroid-lipofuscinosis, neuronal 2, classic late infantile (2) |CLN2|204500|11p15.5 Ceroid-lipofuscinosis, neuronal-3, juvenile, 204200 (3) |CLN3, BTS|607042|16p12.1 Ceroid-lipofuscinosis, neuronal-5, variant late infantile (3) |CLN5|256731|13q21.1-q32 Ceroid-lipofuscinosis, neuronal-6, variant late infantile, 601780 (3) |CLN6|606725|15q21-q23 Cervical cancer, somatic, 603956 (3) |FGFR3, ACH|134934|4p16.3 Cervical carcinoma (2) |ST3|191181|11q13 Chanarin-Dorfman syndrome, 275630 (3) |CGI58, IECN2, NCIE2|604780|3p21 Char syndrome, 169100 (3) |TFAP2B, CHAR|601601|6p12 Charcot-Marie-Tooth disease with deafness, 118300 (3) |PMP22, CMT1A|601097|17p11.2 Charcot-Marie-Tooth disease, type 1, 118200 (3) |EGR2, KROX20|129010|10q21.1-q22.1 Charcot-Marie-Tooth disease, type 1C (2) |CMT1C|601098|16p13.1-p12.3 Charcot-Marie-Tooth disease, type 2B (2) |CMT2B, PSN|600882|3q13-q22 Charcot-Marie-Tooth disease, type 2B1 (2) |CMT2B1|605588|1q21.2-q21.3 Charcot-Marie-Tooth disease, type 2B1, 605588 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A|150330|1q21.2 Charcot-Marie-Tooth disease, type 2B2 (2) |CMT2B2|605589|19q13.3 Charcot-Marie-Tooth disease, type 2E (3) |NEFL, CMT2E|162280|8p21 Charcot-Marie-Tooth disease, type 2F (2) |CMT2F|606595|7q11-q21 Charcot-Marie-Tooth disease, type 4B, 601382 (3) |MTMR2, CMT4B|603557|11q22 Charcot-Marie-Tooth disease, type 4B, form 2 (2) |CMT4B2|604563|11p15 Charcot-Marie-Tooth disease, type 4F (2) |CMT4F|605260|19q13.1-q13.3 Charcot-Marie-Tooth neuropathy, X-linked-1, dominant, 302800 (3) |GJB1, CX32, CMTX1|304040|Xq13.1 Charcot-Marie-Tooth neuropathy, X-linked-2, recessive (2) |CMTX2|302801|Xp22.2 Charcot-Marie-Tooth neuropathy, demyelinating (2) |CMTND|601596|5q32 Charcot-Marie-Tooth neuropathy, type 2A, 118210 (3) |KIF1B, CMT2A|605995|1p36.2 Charcot-Marie-Tooth neuropathy, type 2D (2) |CMT2D|601472|7p14 Charcot-Marie-Tooth neuropathy-1A, 118220 (3) |PMP22, CMT1A|601097|17p11.2 Charcot-Marie-Tooth neuropathy-1B, 118200 (3) |MPZ, CMT1B|159440|1q22 Charcot-Marie-Tooth neuropathy-4A, 214400 (3) |GDAP1, CMT4A|606598|8q13-q21.1 Chediak-Higashi syndrome, 214500 (3) |CHS1, LYST|606897|1q42.1-q42.2 Cherubism, 118400 (3) |SH3BP2, CRPM|602104|4p16.3 Chloride diarrhea, congenital, Finnish type, 214700 (3) |SLC26A3, DRA, CLD|126650|7q22-q31.1 Cholestasis, benign recurrent intrahepatic, 243300 (3) |ATP8B1, FIC1, BRIC, PFIC1|602397|18q21 Cholestasis, familial intrahepatic, of pregnancy, 147480 (3) |ABCB4, PGY3, MDR3|171060|7q21.1 Cholestasis, progressive familial intrahepatic, type III, 602347 (3) |ABCB4, PGY3, MDR3|171060|7q21.1 Cholestasis, progressive familial intrahepatic-1, 211600 (3) |ATP8B1, FIC1, BRIC, PFIC1|602397|18q21 Cholestasis-lymphedema syndrome (2) |LCS1, CHLS|214900|15q Cholesteryl ester storage disease (3) |LIPA|278000|10q24-q25 Chondrocalcinosis with early-onset osteoarthritis (2) |CCAL1|600668|8q Chondrocalcinosis, familial articular (2) |CCAL2, CPPDD|118600|5p15 Chondrodysplasia punctata, X-linked dominant, 302960 (3) |EBP, CDPX2, CPXD, CPX|300205|Xp11.23-p11.22 Chondrodysplasia punctata, X-linked recessive, 302950 (3) |ARSE, CDPX1, CDPXR|300180|Xp22.3 Chondrodysplasia punctata, brachytelephalangic, 302940 (3) |ARSE, CDPX1, CDPXR|300180|Xp22.3 Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) |GNPAT, DHAPAT|602744|Chr.1 Chondrodysplasia, Grebe type, 200700 (3) |GDF5, CDMP1|601146|20q11.2 Chondrosarcoma, 215300 (3) |EXT1|133700|8q24.11-q24.13 Chondrosarcoma, extraskeletal myxoid (1) |CSMF|600542|9q22 Chondrosarcoma, extraskeletal myxoid (1) |TAF15, TAF2N, RBP56|601574|17q11.1-q11.2 Chordoma (2) |CHDM|215400|7q33 Chorea, hereditary benign (2) |BCH|118700|14q Choreoacanthocytosis, 200150 (3) |CHAC|605978|9q21 Choreoathetosis, familial paroxysmal (2) |PNKD, FPD1, PDC, DYT8|118800|2q33-q35 Choreoathetosis/spasticity, episodic (2) |CSE, DYT9|601042|1p Chorioathetosis with mental retardation and abnormal behavior (2) |CAMR, MRXS10|300220|Xp11.2 Chorioretinal atrophy, progressive bifocal (2) |PBCRA, CRAPB|600790|6q14-q16.2 Choroidal dystrophy, central areolar (2) |CACD|215500|17p Choroideremia, 303100 (3) |CHM, TCD|300390|Xq21.2 Chromosome 22q13.3 deletion syndrome, 606232 (3) |PSAP2, PROSAP2, KIAA1650|606230|22q13.3 Chronic granulomatous disease due to deficiency of NCF-1 (3) |NCF1|233700|7q11.23 Chronic granulomatous disease due to deficiency of NCF-2 (3) |NCF2|233710|1q25 Chronic granulomatous disease, X-linked (3) |CYBB, CGD|306400|Xp21.1 Chronic granulomatous disease, autosomal, due to deficiency of CYBA (3) |CYBA|233690|16q24 Chylomicronemia syndrome, familial (3) |LPL, LIPD|238600|8p22 Ciliary diskinesia, primary, 2, 242650 (2) |CILD2, PCD|606763|19q13.3-qter Cirrhosis, North American Indian childhood type (2) |CIRH1A, NAIC|604901|16q22 Cirrhosis, cryptogenic (3) |KRT8|148060|12q13 Citrullinemia, 215700 (3) |ASS|603470|9q34 Citrullinemia, adult-onset type II, 603471 (3) |SLC25A13, CTLN2|603859|7q21.3 Cleft lip/palate ectodermal dysplasia syndrome, 225000 (3) |HVEC, PVRL1, PVRR1, PRR1|600644|11q23-q24 Cleft palate with ankyloglossia, 303400 (3) |TBX22, CPX|300307|Xq12-q21 Cleft palate, X-linked (2) |CPX|303400|Xq21.3 Cleft palate, isolated (2) |CPI, CP1, CPO|119540|2q32 Cleidocranial dysplasia, 119600 (3) |RUNX2, CBFA1, PEBP2A1, AML3|600211|6p21 Coats disease, 300216 (3) |NDP, ND|310600|Xp11.4 Cockayne syndrome-1 (3) |CKN1|216400|Chr.5 Cockayne syndrome-2, type B (3) |ERCC6, CKN2, COFS|133540|10q11 Coffin-Lowry syndrome, 303600 (3) |RPS6KA3, RSK2, MRX19|300075|Xp22.2-p22.1 Cohen syndrome (2) |COH1|216550|8q22-q23 Colchicine resistance (3) |ABCB1, PGY1, MDR1|171050|7q21.1 Cold-induced autoinflammatory syndrome, familial, 120100 (3) |CIAS1, C1orf7, FCU, FCAS|606416|1q44 Colon adenocarcinoma (3) |RAD54B|604289|8q21.3-q22 Colon adenocarcinoma (3) |RAD54L, HR54, HRAD54|603615|1p32 Colon cancer (1) (?) |SLC26A3, DRA, CLD|126650|7q22-q31.1 Colon cancer (3) |BCL10|603517|1p22 Colon cancer (3) |PTPN12, PTPG1|600079|7q11.23 Colon cancer (3) |TGFBR2, HNPCC6|190182|3p22 Colon cancer, advanced (3) |SRC, ASV, SRC1|190090|20q12-q13 Colon cancer, hereditary nonpolypopsis, 114500 (3) |MLH3, HNPCC|604395|14q24.3 Colon cancer, somatic, 114500 (3) |PTPRJ, DEP1|600925|11p11.2 Colorblindness, blue monochromatic (3) |CBBM, BCM|303700|Xq28 Colorblindness, deutan (3) |OPN1MW, GCP, CBD|303800|Xq28 Colorblindness, protan (3) |OPN1LW, RCP, CBP|303900|Xq28 Colorblindness, tritan (3) |OPN1SW, BCP, CBT|190900|7q31.3-q32 Colorectal adenoma (1) |KRAS2, RASK2|190070|12p12.1 Colorectal cancer (1) |KRAS2, RASK2|190070|12p12.1 Colorectal cancer (3) |APC, GS, FPC|175100|5q21-q22 Colorectal cancer (3) |BAX|600040|19q13.3-q13.4 Colorectal cancer (3) |CTNNB1|116806|3p22-p21.3 Colorectal cancer (3) |DCC|120470|18q21.3 Colorectal cancer (3) |MCC|159350|5q21 Colorectal cancer (3) |NRAS|164790|1p13.2 Colorectal cancer with chromosomal instability (3) |BUB1|602452|2q14 Colorectal cancer, 114500 (3) |AXIN2|604025|17q24 Colorectal cancer, 114500 (3) |EP300|602700|22q13 Colorectal cancer, 114500 (3) |PDGFRL, PDGRL, PRLTS|604584|8p22-p21.3 Colorectal cancer, 114500 (3) |TP53, P53|191170|17p13.1 Colorectal cancer, hereditary nonpolyposis, type 1, 114500 (3) |MSH2, COCA1, FCC1, HNPCC1|120435|2p22-p21 Colorectal cancer, hereditary nonpolyposis, type 2, 114500 (3) |MLH1, COCA2, HNPCC2|120436|3p21.3 Colorectal cancer, hereditary nonpolyposis, type 3, 114500 (3) |PMS1, PMSL1, HNPCC3|600258|2q31-q33 Colorectal cancer, hereditary nonpolyposis, type 4, 114500 (3) |PMS2, PMSL2, HNPCC4|600259|7p22 Colorectal cancer, hereditary nonpolyposis, type 5, 114500 (3) |MSH6, GTBP, HNPCC5|600678|2p16 Colorectal cancer, hereditary nonpolyposis, type 6, 114500 (3) |TGFBR2, HNPCC6|190182|3p22 Colorectal cancer, hereditary nonpolyposis, type 7, 114500 (2) |HNPCC7|604940|15q21.1 Colorectal cancer, somatic, 109800 (3) |FGFR3, ACH|134934|4p16.3 Colorectal cancer, somatic, 114500 (3) |MLH3, HNPCC|604395|14q24.3 Colton blood group, 110450 (3) |AQP1, CHIP28, CO|107776|7p14 Combined C6/C7 deficiency (1) |C6|217050|5p13 Combined SAP deficiency (3) |PSAP, SAP1|176801|10q22.1 Combined factor V and VIII deficiency, 227300 (3) |LMAN1, ERGIC53, F5F8D, MCFD1|601567|18q21.3-q22 Combined hyperlipemia, familial (3) |LPL, LIPD|238600|8p22 Combined immunodeficiency, X-linked, moderate, 312863 (3) |IL2RG, SCIDX1, SCIDX, IMD4|308380|Xq13 Complex I deficiency, 252010 (3) |NDUFS4, AQDQ|602694|5q11.1 Complex neurologic disorder, 117200 (3) |TBP|600075|6q27 Cone dystrophy, progressive (2) |CORD5|600977|17p13-p12 Cone dystrophy, progressive X-linked, 2 (2) |COD2|300085|Xq27 Cone dystrophy-1, 304020 (3) |RPGR, RP3, CRD, RP15, COD1|312610|Xp21.1 Cone dystrophy-3, 602093 (3) |GUCA1A, GCAP|600364|6p21.1 Cone-rod dystrophy (3) |AIPL1, LCA4|604392|17p13.1 Cone-rod dystrophy 3 (3) |ABCA4, ABCR, STGD1, FFM, RP19|601691|1p21-p13 Cone-rod dystrophy 6, 601777(3) |GUCY2D, GUC2D, LCA1, CORD6|600179|17p13.1 Cone-rod dystrophy 8 (2) |CORD8|605549|1q12-q24 Cone-rod dystrophy, 300029 (3) |RPGR, RP3, CRD, RP15, COD1|312610|Xp21.1 Cone-rod dystrophy-7 (2) |CORD7|603649|6cen-q14 Cone-rod retinal dystrophy-1 (2) |CORD1, CRD1|600624|18q21.1-q21.3 Cone-rod retinal dystrophy-2, 120970 (3) |CRX, CORD2, CRD|602225|19q13.3 Congenital bilateral absence of vas deferens, 277180 (3) |CFTR, ABCC7, CF, MRP7|602421|7q31.2 Congenital cataract, facial dysmorphism, and neuropathy syndrome (2) |CCFDN|604168|18q23-qter Congenital disorder of glycosylation, type IIc, 266265 (3) |FUCT1|605881|Chr.11 Congenital disorder of glycosylation, type IId, 607091 (3) |B4GALT1, GGTB2, GT1, GTB|137060|9p13 Congenital disorder of glycosylation, type Ic, 603147 (3) |ALG6|604566|1p22.3 Congenital dyserythropoietic anemia II (2) |CDAN2, HEMPAS|224100|20q11.2 Congenital hereditary endothelial dystrophy of cornea (2) |CHED2|121700|20p13 Conjunctivitis, ligneous, 217090 (3) |PLG|173350|6q26 Conotruncal cardiac anomalies (2) (?) |CTHM|217095|22q11 Contractural arachnodactyly, congenital (3) |FBN2, CCA|121050|5q23-q31 Convulsions, benign familial infantile (2) |BFIC|601764|19q Convulsions, benign familial infantile, 2 (2) |BFIC2|605751|16p12-q12 Convulsions, benign familial infantile, 3 (2) |BFIC3|606052|2q24 Convulsions, familial febrile, 1 (2) |FEB1|602476|8q13-q21 Convulsions, familial febrile, 2 (2) |FEB2|602477|19p13.3 Convulsions, familial febrile, 3 (2) |FEB3|604403|2q23-q24 Convulsions, familial febrile, 4 (2) |FEB4|604352|5q14-q15 Convulsions, infantile and paroxysmal choreoathetosis (2) |ICCA|602066|16p12-q12 Coproporphyria (3) |CPO|121300|3q12 Cornea plana congenita, recessive, 217300 (3) |KERA, CNA2|603288|12q22 Corneal clouding, autosomal recessive (3) |APOA1|107680|11q23 Corneal dystrophy, Avellino type (3) |TGFBI, CSD2, CDGG1, CSD, BIGH3|601692|5q31 Corneal dystrophy, Groenouw type I, 121900 (3) |TGFBI, CSD2, CDGG1, CSD, BIGH3|601692|5q31 Corneal dystrophy, Reis-Bucklers type, 121900 (3) |TGFBI, CSD2, CDGG1, CSD, BIGH3|601692|5q31 Corneal dystrophy, Thiel-Behnke type (2) |CDB2, CDTB|602082|10q24 Corneal dystrophy, crystalline, Schnyder (2) |SCCD|121800|1p36-p34.1 Corneal dystrophy, gelatinous drop-like, 204870 (3) |TACSTD2, TROP2, M1S1|137290|1p32 Corneal dystrophy, lattice type I, 122200 (3) |TGFBI, CSD2, CDGG1, CSD, BIGH3|601692|5q31 Corneal dystrophy, lattice type IIIA (3) |TGFBI, CSD2, CDGG1, CSD, BIGH3|601692|5q31 Corneal dystrophy, posterior polymorphous (2) |PPCD, PPD|122000|20p11.2-q11.2 Cornelia de Lange syndrome (2) (?) |CDL1|122470|3q26.3 Cortisol resistance (3) |NR3C1, GCR, GRL|138040|5q31 Costello syndrome (2) (?) |CTLO|218040|22q13.1 Coumarin resistance, 122700 (3) |CYP2A6, CYP2A3|122720|19q13.2 Cowchock syndrome (2) |NAMSD, CMT2D, NADMR|310490|Xq24-q26.1 Cowden disease, 158350 (3) |PTEN, MMAC1|601728|10q23.31 Cramps, familial, potassium-aggravated (3) |SCN4A, HYPP, NAC1A|603967|17q23.1-q25.3 Craniofacial-deafness-hand syndrome, 122880 (3) |PAX3, WS1, HUP2, CDHS|193500|2q35 Craniofrontonasal dysplasia (2) |CFNS, CFND|304110|Xp22 Craniometaphyseal dysplasia, 123000 (3) |ANKH, HANK, ANK, CMDJ|605145|5p15.2-p14.1 Craniometaphyseal dysplasia, autosomal recessive (2) |CMDR|218400|6q21-q22 Craniosynostosis, Adelaide type (2) |CRSA, CRS3|600593|4p16 Craniosynostosis, nonspecific (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Craniosynostosis, type 1 (2) |CRS, CSO|123100|7p21.3-p21.2 Craniosynostosis, type 2, 604757 (3) |MSX2, CRS2, HOX8|123101|5q34-q35 Creatine deficiency syndrome, X-linked, 300352 (3) |SLC6A8|300036|Xq28 Creatine phosphokinase, elevated serum, 123320 (3) |CAV3, LGMD1C|601253|3p25 Creutzfeldt-Jakob disease, 123400 (3) |PRNP, PRIP|176640|20pter-p12 Crigler-Najjar syndrome, type I, 218800 (3) |UGT1A1, UGT1, GNT1|191740|2q37 Crigler-Najjar syndrome, type II, 606785 (3) |UGT1A1, UGT1, GNT1|191740|2q37 Crohn disease, 266600 (3) |CARD15, NOD2, IBD1, CD, ACUG|605956|16q12 Crouzon syndrome with acanthosis nigricans (3) |FGFR3, ACH|134934|4p16.3 Crouzon syndrome, 123500 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Cryptorchidism (2) (?) |GTD|306190|Xp21 Currarino syndrome, 176450 (3) |HLXB9, HOXHB9, SCRA1|142994|7q36 Cutis laxa, 123700 (3) |ELN|130160|7q11.2 Cutis laxa, marfanoid neonatal type (1) (?) |LAMB1|150240|7q31.1-q31.3 Cutis laxa, neonatal (3) |ATP7A, MNK, MK, OHS|300011|Xq12-q13 Cutis laxa, recessive, type I, 219100 (1) |LOX|153455|5q23.3-q31.2 Cyclic ichthyosis with epidermolytic hyperkeratosis (3) |KRT1|139350|12q13 Cylindromatosis, familial, 132700 (3) |CYLD1, CDMT, EAC|605018|16q12-q13 Cystic fibrosis, 219700 (3) |CFTR, ABCC7, CF, MRP7|602421|7q31.2 Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3) |CTNS|606272|17p13 Cystinosis, nephropathic, 219800 (3) |CTNS|606272|17p13 Cystinosis, ocular nonnephropathic, 219750 (3) |CTNS|606272|17p13 Cystinuria, 220100 (3) |SLC3A1, ATR1, D2H, NBAT|104614|2p16.3 Cystinuria, type II (3) |SLC7A9, CSNU3|604144|19q13.1 Cystinuria, type III (3) |SLC7A9, CSNU3|604144|19q13.1 D-bifunctional protein deficiency (3) |HSD17B4|601860|5q2 DECR deficiency (2) (?) |DECR1|222745|8q21.3 DNA ligase I deficiency (3) |LIG1|126391|19q13.2-q13.3 Darier disease, 124200 (3) |ATP2A2, ATP2B, DAR|108740|12q23-q24.1 De Sanctis-Cacchione syndrome, 278800 (3) |ERCC6, CKN2, COFS|133540|10q11 Deafness, X-linked 1, progressive (3) |TIMM8A, DFN1, DDP, MTS, DDP1|300356|Xq22 Deafness, X-linked 2, perceptive congenital (2) |DFN2|304500|Xq22 Deafness, X-linked 3, conductive, with stapes fixation, 304400 (3) |POU3F4, DFN3|300039|Xq21.1 Deafness, X-linked 4, congenital sensorineural (2) |DFN4|300030|Xp21.2 Deafness, X-linked 6, sensorineural (2) |DFN6|300066|Xp22 Deafness, autosomal dominant 1, 124900 (3) |DIAPH1, DFNA1, LFHL1|602121|5q31 Deafness, autosomal dominant 10, 601316 (3) |EYA4, DFNA10|603550|6q23 Deafness, autosomal dominant 11, neurosensory, 601317 (3) |MYO7A, USH1B, DFNB2, DFNA11|276903|11q13.5 Deafness, autosomal dominant 12, 601842 (3) |TECTA, DFNA8, DFNA12, DFNB21|602574|11q22-q24 Deafness, autosomal dominant 13, 601868 (3) |COL11A2, STL3, DFNA13|120290|6p21.3 Deafness, autosomal dominant 15, 602459 (3) |POU4F3, BRN3C|602460|5q31 Deafness, autosomal dominant 16 (2) |DFNA16|603964|2q23-q24.3 Deafness, autosomal dominant 17, 603622 (3) |MYH9, MHA, FTNS, DFNA17|160775|22q11.2 Deafness, autosomal dominant 18 (2) |DFNA18|606012|3q22 Deafness, autosomal dominant 2 (2) |DFNA2|600101|1p34 Deafness, autosomal dominant 2, 600101 (3) |GJB3, CX31, DFNA2|603324|1p35.1 Deafness, autosomal dominant 2, 600101 (3) |KCNQ4, DFNA2|603537|1p34 Deafness, autosomal dominant 20 (2) |DFNA20|604717|17q25 Deafness, autosomal dominant 22 (3) |MYO6, DFNA22|600970|6q13 Deafness, autosomal dominant 23 (2) |DFNA23|605192|14q21-q22 Deafness, autosomal dominant 24 (2) |DFNA24|606282|4q35-qter Deafness, autosomal dominant 25 (2) |DFNA25|605583|12q21-q24 Deafness, autosomal dominant 3, 601544 (3) |GJB2, CX26, DFNB1, PPK|121011|13q11-q12 Deafness, autosomal dominant 3, 601544 (3) |GJB6, CX30, DFNA3, HED, ED2|604418|13q12 Deafness, autosomal dominant 30 (2) |DFNA30|606451|15q25-q26 Deafness, autosomal dominant 36, 606705 (3) |TMC1, DFNB7, DFNB11, DFNA36|606706|9q13-q21 Deafness, autosomal dominant 4 (2) |DFNA4|600652|19q13 Deafness, autosomal dominant 5 (3) |DFNA5|600994|7p15 Deafness, autosomal dominant 7 (2) |DFNA7|601412|1q21-q23 Deafness, autosomal dominant 8, 601543 (3) |TECTA, DFNA8, DFNA12, DFNB21|602574|11q22-q24 Deafness, autosomal dominant 9, 601369 (3) |COCH, DFNA9|603196|14q12-q13 Deafness, autosomal dominant, with peripheral neuropathy (3) |GJB3, CX31, DFNA2|603324|1p35.1 Deafness, autosomal recessive (3) |GJB3, CX31, DFNA2|603324|1p35.1 Deafness, autosomal recessive 1, 220290 (3) |GJB2, CX26, DFNB1, PPK|121011|13q11-q12 Deafness, autosomal recessive 10, congenital, 605316 (3) |TMPRSS3, ECHOS1, DFNB8, DFNB10|605511|21q22.3 Deafness, autosomal recessive 12, 601386 (3) |CDH23, USH1D|605516|10q21-q22 Deafness, autosomal recessive 13 (2) |DFNB13|603098|7q34-q36 Deafness, autosomal recessive 14 (2) |DFNB14|603678|7q31 Deafness, autosomal recessive 15 (2) |DFNB15|601869|3q Deafness, autosomal recessive 16, 603720 (3) |STRC, DFNB16|606440|15q15 Deafness, autosomal recessive 17 (2) |DFNB17|603010|7q31 Deafness, autosomal recessive 18 (2) |DFNB18|602092|11p15.1-p14 Deafness, autosomal recessive 2, neurosensory, 600060 (3) |MYO7A, USH1B, DFNB2, DFNA11|276903|11q13.5 Deafness, autosomal recessive 20 (2) |DFNB20|604060|11q25-qter Deafness, autosomal recessive 21, 603629 (3) |TECTA, DFNA8, DFNA12, DFNB21|602574|11q22-q24 Deafness, autosomal recessive 22, 607039 (3) |OTOA, DFNB22|607038|16p12.2 Deafness, autosomal recessive 26 (2) |DFNB26|605428|4q31 Deafness, autosomal recessive 27 (2) |DFNB27|605818|2q23-q31 Deafness, autosomal recessive 29 (3) |CLDN14, DFNB29|605608|21q22.3 Deafness, autosomal recessive 3, 600316 (3) |MYO15A, DFNB3|602666|17p11.2 Deafness, autosomal recessive 30, 607101 (3) |MYO3A, DFNB30|606808|10p11.1 Deafness, autosomal recessive 31 (2) |DFNB31|607084|9q32-q34 Deafness, autosomal recessive 4, 600791 (3) |SLC26A4, PDS, DFNB4|605646|7q31 Deafness, autosomal recessive 5 (2) |DFNB5|600792|14q12 Deafness, autosomal recessive 6 (2) |DFNB6|600971|3p21-p14 Deafness, autosomal recessive 7, 600974 (3) |TMC1, DFNB7, DFNB11, DFNA36|606706|9q13-q21 Deafness, autosomal recessive 8, childhood onset, 601072 (3) |TMPRSS3, ECHOS1, DFNB8, DFNB10|605511|21q22.3 Deafness, autosomal recessive 9, 601071 (3) |OTOF, DFNB9, NSRD9|603681|2p23-p22 Deafness, nonsyndromic neurosensory, digenic (3) |GJB6, CX30, DFNA3, HED, ED2|604418|13q12 Deafness, sensorineural, autosomal-mitochondrial (2) |MDM1|221745|Chr.8 Debrisoquine sensitivity (3) |CYP2D@, CYP2D, P450C2D|124030|22q13.1 Dehydrated hereditary stomatocytosis (2) |DHS|194380|16q23-q24 Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema, 603528 (2) |DHS|194380|16q23-q24 Dejerine-Sottas disease, 145900 (3) |PMP22, CMT1A|601097|17p11.2 Dejerine-Sottas disease, myelin P-zero-related, 145900 (3) |MPZ, CMT1B|159440|1q22 Dejerine-Sottas neuropathy, 145900 (3) |EGR2, KROX20|129010|10q21.1-q22.1 Dejerine-Sottas neuropathy, autosomal recessive, 145900 (3) |PRX, CMT4F|605725|19q13.1-q13.2 Dementia, Pick disease-like, 172700 (3) |MAPT, MTBT1, DDPAC, MSTD|157140|17q21.1 Dementia, familial British, 176500 (3) |ITM2B, BRI, ABRI, FBD|603904|13q14 Dementia, familial Danish, 117300 (3) |ITM2B, BRI, ABRI, FBD|603904|13q14 Dementia, familial, nonspecific (2) |DMT1|600795|3p11.1-q11.2 Dementia, frontotemporal, 600274 (3) |PSEN1, AD3|104311|14q24.3 Dementia, frontotemporal, with parkinsonism, 601630 (3) |MAPT, MTBT1, DDPAC, MSTD|157140|17q21.1 Dent disease, 300009 (3) |CLCN5, CLCK2, NPHL2, DENTS|300008|Xp11.22 Dental anomalies, isolated (3) |RUNX2, CBFA1, PEBP2A1, AML3|600211|6p21 Dentatorubro-pallidoluysian atrophy (3) |DRPLA|125370|12p13.31 Dentin dysplasia, type II (2) |DTDP2|125420|4q Dentinogenesis imperfecta-1 with deafness, 605594 (3) |DSPP, DPP, DGI1, DFNA39|125485|4q21.3 Dentinogenesis imperfecta-1, 125490 (3) |DSPP, DPP, DGI1, DFNA39|125485|4q21.3 Denys-Drash syndrome, 194080 (3) |WT1|194070|11p13 Dermatitis, atopic (2) |ATOD1|603165|3q21 Dermatitis, atopic, 603165 (2) |ATOD2|605803|1q21 Dermatitis, atopic, 603165 (2) |ATOD3|605804|20p Dermatitis, atopic, 603165 (2) |ATOD4|605805|17q25 Dermatitis, atopic, 603165 (2) |ATOD6|605845|5q31-q33 Dermatitis, atopic, 603165 (2) |ATPD5|605844|13q12-q14 Dermatofibrosarcoma protuberans (3) |PDGFB, SIS|190040|22q12.3-q13.1 Desmoid disease, hereditary, 135290 (3) |APC, GS, FPC|175100|5q21-q22 Desmosterolosis, 602398 (3) |DHCR24, KIAA0018|606418|1p33-p31.1 DiGeorge syndrome (2) |DGCR, DGS, VCF|188400|22q11 DiGeorge syndrome/velocardiofacial syndrome complex-2 (2) |DGCR2, DGS2|601362|10p14-p13 Diabetes insipidus, nephrogenic (3) |AVPR2, DIR, DI1, ADHR|304800|Xq28 Diabetes insipidus, nephrogenic, autosomal dominant, 125800 (3) |AQP2|107777|12q13 Diabetes insipidus, nephrogenic, autosomal recessive, 222000 (3) |AQP2|107777|12q13 Diabetes insipidus, neurohypophyseal, 125700 (3) |AVP, AVRP, VP|192340|20p13 Diabetes mellitus, insulin-dependent, neonatal (2) (?) |PBCA|600089|Chr.6 Diabetes mellitus, insulin-resistant, with acanthosis nigricans (3) |INSR|147670|19p13.2 Diabetes mellitus, insulin-resistant, with acanthosis nigricans and hypertension, 604367 (3) |PPARG, PPARG1, PPARG2|601487|3p25 Diabetes mellitus, neonatal-onset, 606176 (3) |GCK|138079|7p15-p13 Diabetes mellitus, rare form (1) |INS|176730|11p15.5 Diaphyseal medullary stenosis with malignant fibrous histiocytoma (2) |DMSMFH, BDMF|112250|9p22-p21 Diastrophic dysplasia, 222600 (3) |SLC26A2, DTD, DTDST, D5S1708, EDM4|606718|5q32-q33.1 Dicarboxylicaminoaciduria, 222730 (1) (?) |SLC1A1, EAAC1|133550|9p24 Dihydropyrimidinuria (3) |DPYS, DHP|222748|8q22 Dilated cardiomyopathy with woolly hair and keratoderma, 605676 (3) |DSP, KPPS2, PPKS2|125647|6p24 Dimethylglycine dehydrogenase deficiency, 605850 (3) |DMGDH, DMGDHD|605849|5q12.2-q12.3 Diphenylhydantoin toxicity (1) |EPHX1|132810|1q42.1 Dosage-sensitive sex reversal, 300018 (3) |DAX1, AHC, AHX, NROB1|300200|Xp21.3-p21.2 Double-outlet right ventricle, 217095 (3) |CFC1, CRYPTIC|605194|Chr.2 Down syndrome (1) |DCR, DSCR|190685|21q22.3 Doyne honeycomb degeneration of retina, 126600 (3) |EFEMP1, FBNL, DHRD|601548|2p16 Duane retraction syndrome 2 (2) |DURS2|604356|2q31 Duane syndrome (2) |DURS1, DUS|126800|8q13 Dubin-Johnson syndrome, 237500 (3) |ABCC2, CMOAT|601107|10q24 Duchenne muscular dystrophy, 310200 (3) |DMD, BMD|300377|Xp21.2 Dysautonomia, familial, 223900 (3) |IKBKAP, IKAP|603722|9q31 Dyserythropoietic anemia with thrombocytopenia, 300367 (3) Macrothrombocytopenia, 300367 (3) |GATA1, GF1, ERYF1, NFE1|305371|Xp11.23 Dyserythropoietic anemia, congenital, type III (2) |CDAN3, CDA3|105600|15q21 Dyserythropoietic anemia, contenital, type I (2) |CDAN1, CDA1|224120|15q15.1-q15.3 Dysfibrinogenemia, alpha type, causing bleeding diathesis (3) |FGA|134820|4q28 Dysfibrinogenemia, alpha type, causing recurrent thrombosis (3) |FGA|134820|4q28 Dysfibrinogenemia, beta type (3) |FGB|134830|4q28 Dysfibrinogenemia, gamma type (3) |FGG|134850|4q28 Dyskeratosis congenita, 127550 (3) |TERC, TRC3, TR|602322|3q21-q28 Dyskeratosis congenita-1, 305000 (3) |DKC1, DKC|300126|Xq28 Dyskeratosis, hereditary benign intraepithelial (2) |DKBI|127600|4q35 Dyslexia, specific, 2 (2) |DYX2, DYLX2, DLX2|600202|6p21.3 Dyslexia, specific, 3 (2) |DYX3|604254|2p16-p15 Dyslexia-1 (2) |DYX1|127700|15q21 Dysprothrombinemia (3) |F2|176930|11p11-q12 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3) |HSPG2, PLC, SJS, SJA, SJS1|142461|1p36.1 Dystonia, DOPA-responsive, 128230 (3) |GCH1, DYT5|600225|14q22.1-q22.2 Dystonia, early-onset atypical, with myoclonic features (3) |DYT1, TOR1A|605204|9q34 Dystonia, myoclonic, 159900 (3) |DRD2|126450|11q23 Dystonia, myoclonic, 159900 (3) |SGCE, DYT11|604149|7q21 Dystonia, primary cervical (3) |DRD5, DRD1B, DRD1L2|126453|4p16.1-p15.3 Dystonia-1, torsion, 128100 (3) |DYT1, TOR1A|605204|9q34 Dystonia-12 (2) |DYT12, RDP|128235|19q13 Dystonia-3, torsion, with parkinsonism, Filipino type (2) |DYT3|314250|Xq13.1 Dystonia-6, torsion (2) |DYT6|602629|8p21-q22 Dystonia-7, torsion (2) |DYT7|602124|18p EBD, Bart type, 132000 (3) |COL7A1|120120|3p21.3 EBD, generalized atrophic benign, 226650 (3) |COL7A1|120120|3p21.3 EBD, localisata variant (3) |COL7A1|120120|3p21.3 EEC syndrome-1 (2) (?) |EEC1|129900|7q11.2-q21.3 Ectodermal dysplasia 2, hidrotic, 129500 (3) |GJB6, CX30, DFNA3, HED, ED2|604418|13q12 Ectodermal dysplasia, Margarita Island type, 225060 (3) |HVEC, PVRL1, PVRR1, PRR1|600644|11q23-q24 Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3) |IKBKG, NEMO, FIP3, IP2|300248|Xq28 Ectodermal dysplasia, hypohidrotic, autosomal dominant, 129490 (3) |EDAR, DL, ED3, EDA3|604095|2q11-q13 Ectodermal dysplasia, hypohidrotic, autosomal recessive, 224900 (3) |EDAR, DL, ED3, EDA3|604095|2q11-q13 Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3) |IKBKG, NEMO, FIP3, IP2|300248|Xq28 Ectodermal dysplasia-1, anhidrotic (3) |ED1, EDA, HED|305100|Xq12-q13.1 Ectodermal dysplasia/skin fragility syndrome, 604536 (3) |PKP1|601975|1q32 Ectopia lentis, familial (3) |FBN1, MFS1|134797|15q21.1 Ectopia pupillae, 129750 (3) |PAX6, AN2|106210|11p13 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3) |TP63, KET, EEC3, SHFM4|603273|3q27 Ectrodactyly, ectodermal dysplasia, cleft lip/palate-2 (2) |EEC2|602077|Chr.19 Ehlers-Danlos syndrome, progeroid form, 130070 (3) |B4GALT7, XGALT1, XGPT1|604327|5q35.2-q35.3 Ehlers-Danlos syndrome, type I, 130000 (3) |COL1A1|120150|17q21.31-q22 Ehlers-Danlos syndrome, type I, 130000 (3) |COL5A1|120215|9q34.2-q34.3 Ehlers-Danlos syndrome, type I, 130000 (3) |COL5A2|120190|2q31 Ehlers-Danlos syndrome, type II, 130010 (3) |COL5A1|120215|9q34.2-q34.3 Ehlers-Danlos syndrome, type III, 130020 (3) |COL3A1|120180|2q31 Ehlers-Danlos syndrome, type IV, 130050 (3) |COL3A1|120180|2q31 Ehlers-Danlos syndrome, type VI, 225400 (3) |PLOD, PLOD1|153454|1p36.3-p36.2 Ehlers-Danlos syndrome, type VII, 130060 (3) |COL1A1|120150|17q21.31-q22 Ehlers-Danlos syndrome, type VIIA2, 130060 (3) |COL1A2|120160|7q22.1 Ehlers-Danlos syndrome, type VIIC, 225410 (3) |ADAMTS2, NPI|604539|5q23 Ehlers-Danlos syndrome, type X, 225310 (1) (?) |FN1|135600|2q34 Ehlers-Danlos-like syndrome, 606408 (3) |TNXB, TNX, TNXB1, TNXBS, TNXB2|600985|6p21.3 Elliptocytosis-1 (3) |EPB41, EL1|130500|1p36.2-p34 Elliptocytosis-2 (3) |SPTA1|182860|1q21 Elliptocytosis-3 (3) |SPTB|182870|14q22-q23.2 Ellis-van Creveld syndrome, 225500 (3) |EVC|604831|4p16 Emery-Dreifuss muscular dystrophy, 310300 (3) |EMD, EDMD, STA|300384|Xq28 Emery-Dreifuss muscular dystrophy, AD, 181350 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A|150330|1q21.2 Emery-Dreifuss muscular dystrophy, AR, 604929 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A|150330|1q21.2 Emphysema (3) |PI, AAT|107400|14q32.1 Emphysema due to alpha-2-macroglobulin deficiency (1) |A2M|103950|12p13.3-p12.3 Emphysema-cirrhosis (3) |PI, AAT|107400|14q32.1 Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3) |SERPINI1, PI12|602445|3q26 Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency (3) |COX10|602125|17p12-p11.2 Enchondromatosis, Ollier type, 166000 (3) |PTHR1, PTHR|168468|3p22-p21.1 Endocardial fibroelastosis-2 (2) |TAZ, EFE2, BTHS, CMD3A|300394|Xq28 Endometrial carcinoma (2) |DEC|602084|10q26 Endometrial carcinoma (3) |CDH1, UVO|192090|16q22.1 Endometrial carcinoma (3) |MSH3|600887|5q11-q12 Endometrial carcinoma (3) |MSH6, GTBP, HNPCC5|600678|2p16 Endometrial carcinoma (3) |PTEN, MMAC1|601728|10q23.31 Endometrial stromal tumors (2) |JAZF1|606246|7p15 Endometrial stromal tumors (2) |JJAZ1, KIAA0160|606245|Chr.17 Endotoxin hyporesponsiveness (3) |TLR4|603030|9q32-q33 Endplate acetylcholinesterase deficiency, 603034 (3) |COLQ, EAD|603033|3p24.2 Enhanced S-cone syndrome, 268100 (3) |NR2E3, PNR, ESCS|604485|15q23 Enlarged vestibular aqueduct, 603545 (3) |SLC26A4, PDS, DFNB4|605646|7q31 Enolase deficiency (1) |ENO1, PPH, MPB1|172430|1pter-p36.13 Enterokinase deficiency, 226200 (3) |PRSS7, ENTK|606635|21q21 Enuresis, nocturnal, 1 (2) |ENUR1|600631|13q13-q14.3 Enuresis, nocturnal, 2 (2) |ENUR2|600808|12q13-q21 Eosinophil peroxidase deficiency, 261500 (3) |EPX|131399|17q23.1 Eosinophilia, familial (2) |EOS|131400|5q31-q33 Eosinophilic myeloproliferative disorder (2) (?) |MPE|131440|12p13 Epidermodysplasia verruciformis, 226400 (2) |EV1|605828|17q25 Epidermolysis Epidermolysis bullosa dystrophica, AR, 226600 (3) |COL7A1|120120|3p21.3 Epidermolysis bullosa dystrophica, AD, 131750 (3) |COL7A1|120120|3p21.3 Epidermolysis bullosa inversa, junctional (2) |EBR2A|226450|1q31 Epidermolysis bullosa pruriginosa, 604129 (3) |COL7A1|120120|3p21.3 Epidermolysis bullosa simplex with mottled pigmentation, 131960 (3) |KRT5|148040|12q13 Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760, 131800 (3) |KRT14|148066|17q12-q21 Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and Weber-Cockayne types, 131900, 131760, 131800 (3) |KRT5|148040|12q13 Epidermolysis bullosa simplex, recessive, 601001 (3) |KRT14|148066|17q12-q21 Epidermolysis bullosa, Herlitz junctional type, 226700 (3) |LAMB3|150310|1q32 Epidermolysis bullosa, Herlitz junctional type, 226700 (3) |LAMC2, LAMNB2, LAMB2T|150292|1q25-q31 Epidermolysis bullosa, Ogna type (2) |EBS1|131950|8q24 Epidermolysis bullosa, generalized atrophic benign, 226650 (3) |COL17A1, BPAG2|113811|10q24.3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3) |ITGB4|147557|17q11-qter Epidermolysis bullosa, generalized atrophic benign, 226650 (3) |LAMA3|600805|18q11.2 Epidermolysis bullosa, generalized atrophic benign, 226650 (3) |LAMB3|150310|1q32 Epidermolysis bullosa, generalized atrophic benign, 226650 (3) |LAMC2, LAMNB2, LAMB2T|150292|1q25-q31 Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) |LAMA3|600805|18q11.2 Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) |ITGB4|147557|17q11-qter Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) |ITGA6|147556|Chr.2 Epidermolysis bullosa, pretibial, 131850 (3) |COL7A1|120120|3p21.3 Epidermolytic hyperkeratosis, 113800 (3) |KRT10|148080|17q21-q22 Epidermolytic hyperkeratosis, 113800 (3) |KRT1|139350|12q13 Epidermolytic palmoplantar keratoderma (3) |KRT9, EPPK|144200|17q12-q21 Epilepsy, benign neonatal, type 2, 121201 (3) |KCNQ3, EBN2, BFNC2|602232|8q24 Epilepsy, benign, neonatal, type 1, 121200 (3) |KCNQ2, EBN1|602235|20q13.3 Epilepsy, childhood absence, 1 (2) |ECA1|600131|8q24 Epilepsy, childhood absence, 600131 (3) |GABRG2, GEFSP3, CAE2|137164|5q31.1-q33.1 Epilepsy, female restricted, with mental retardation (2) |EFMR|300088|Xq22 Epilepsy, generalized idiopathic, 600669 (3) |CACNB4|601949|2q22-q23 Epilepsy, generalized, idiopathic, 600669 (2) |EGI|606970|8q24 Epilepsy, generalized, with febrile seizures plus, 604233 (3) |GABRG2, GEFSP3, CAE2|137164|5q31.1-q33.1 Epilepsy, generalized, with febrile seizures plus, type 2, 604233 (3) |SCN1A, GEFSP2|182389|2q24 Epilepsy, juvenile myoclonic (2) |EJM1|254770|6p Epilepsy, juvenile myoclonic (2) |EJM2, JME|604827|15q14 Epilepsy, juvenile myoclonic, 606904 (3) |CACNB4|601949|2q22-q23 Epilepsy, juvenile myoclonic, 606904 (3) |GABRA1|137160|5q34-q35 Epilepsy, myoclonic, Lafora type (3) |EPM2A, MELF, EPM2|254780|6q24 Epilepsy, myoclonic, benign adult familial (2) |MEBA, BAFME, FAME|601068|8q24 Epilepsy, myoclonic, infantile (2) |EIM|605021|16p13 Epilepsy, nocturnal frontal lobe, 1, 600513 (3) |CHRNA4, ENFL1|118504|20q13.2-q13.3 Epilepsy, nocturnal frontal lobe, 3, 605375 (3) |CHRNB2, EFNL3|118507|1p21 Epilepsy, nocturnal frontal lobe, type 2 (2) |ENFL2|603204|15q24 Epilepsy, partial, with auditory features, 600512 (3) |LGI1, EPT|604619|10q24 Epilepsy, partial, with variable foci (2) |FPEVF|604364|22q11-q12 Epilepsy, progressive myoclonic 1, 254800 (3) |CSTB, STFB, EPM1|601145|21q22.3 Epilepsy, progressive, with mental retardation (2) |CLN8, EPMR|600143|8pter-p22 Epilepsy, pyridoxine-dependent (2) |EPD, PDE|266100|5q31.2-q31.3 Epiphyseal dysplasia, multiple 1, 132400 (3) |COMP, EDM1, MED, PSACH|600310|19p13.1 Epiphyseal dysplasia, multiple, 226900 (3) |SLC26A2, DTD, DTDST, D5S1708, EDM4|606718|5q32-q33.1 Epiphyseal dysplasia, multiple, 3, 600969 (3) |COL9A3, EDM3, IDD|120270|20q13.3 Epiphyseal dysplasia, multiple, 5, 607078 (3) |MATN3, EDM5|602109|2p24-p23 Epiphyseal dysplasia, multiple, COL9A1-related (3) |COL9A1, MED|120210|6q13 Epiphyseal dysplasia, multiple, type 2, 600204 (3) |COL9A2, EDM2|120260|1p33-p32.2 Epiphyseal dysplasia, multiple, with myopathy (3) |COL9A3, EDM3, IDD|120270|20q13.3 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) |COL2A1|120140|12q13.11-q13.2 Episodic ataxia, type 2, 108500 (3) |CACNA1A, CACNL1A4, SCA6|601011|19p13 Episodic ataxia/myokymia syndrome, 160120 (3) |KCNA1, AEMK, EA1|176260|12p13 Episodic muscle weakness, X-linked (2) |EMWX|300211|Xp22.3 Epithelioma, self-healing, squamous 1, Ferguson-Smith type (2) |MSSE, ESS1|132800|9q31 Epstein syndrome, 153650 (3) |MYH9, MHA, FTNS, DFNA17|160775|22q11.2 Erosive vitreoretinopathy (2) |WGN1, ERVR|143200|5q13-q14 Erythermalgia, primary (2) |ETHA|133020|2q31-q32 Erythremia (1) (?) |EPO|133170|7q21 Erythremias, alpha- (3) |HBA1|141800|16pter-p13.3 Erythremias, beta- (3) |HBB|141900|11p15.5 Erythrocytosis (3) |HBA2|141850|16pter-p13.3 Erythrocytosis, autosomal recessive benign (2) |ECB2|263400|11q23 Erythrokeratoderma, progressive symmetric, 602036 (3) |LOR|152445|1q21 Erythrokeratodermia variabilis with erythema gyratum repens, 133200 (3) |GJB4, CX30.3|605425|1p35.1 Erythrokeratodermia variabilis, 133200 (3) |GJB3, CX31, DFNA2|603324|1p35.1 Esophageal cancer, 133239 (1) |DLEC1, DLC1|604050|3p22-p21.3 Esophageal cancer, 133239 (3) |TGFBR2, HNPCC6|190182|3p22 Esophageal squamous cell carcinoma, 133239 (1) |DEC1|604767|9q32 Esophageal squamous cell carcinoma, 133239 (3) |LZTS1, F37, FEZ1|606551|8p22 Estrogen resistance (3) |ESR1, ESR|133430|6q25.1 Ewing sarcoma (3) |EWSR1, EWS|133450|22q12 Exertional myoglobinuria due to deficiency of LDH-A (3) |LDHA, LDH1|150000|11p15.4 Exostoses, multiple, type 1 (3) |EXT1|133700|8q24.11-q24.13 Exostoses, multiple, type 2 (3) |EXT2|133701|11p12-p11 Exostoses, multiple, type 3 (2) |EXT3|600209|19p Exudative vitreoretinopathy, X-linked, 305390 (3) |NDP, ND|310600|Xp11.4 Exudative vitreoretinopathy-3 (2) |EVR3|605750|11p13-p12 Eye anomalies, multiplex (3) |PAX6, AN2|106210|11p13 FG syndrome (2) |FGS1|305450|Xq12-q21.31 FG syndrome, 305450 (2) |FGS2|300321|Xq28 Fabry disease (3) |GLA|301500|Xq22 Facioscapulohumeral muscular dystrophy-1A (2) |FSHMD1A, FSHD1A|158900|4q35 Factor H deficiency (1) |HF1, CFH, HUS|134370|1q32 Factor VII deficiency (3) |F7|227500|13q34 Factor X deficiency (3) |F10|227600|13q34 Factor XI deficiency (3) |F11|264900|4q35 Factor XII deficiency (3) |F12, HAF|234000|5q33-qter Factor XIIIA deficiency (3) |F13A1, F13A|134570|6p25-p24 Factor XIIIB deficiency (3) |F13B|134580|1q31-q32.1 Faisalabad histiocytosis (2) |HJCD|602782|11q25 Familial Mediterranean fever (3) |MEFV, MEF, FMF|249100|16p13 Fanconi anemia, complementation group A (3) |FANCA, FACA, FA1, FA, FAA|227650|16q24.3 Fanconi anemia, complementation group C (3) |FANCC, FACC|227645|9q22.3 Fanconi anemia, complementation group D2 (3) |FANCD2, FANCD, FACD, FAD|227646|3p25.3 Fanconi anemia, complementation group E (3) |FANCE, FACE|600901|6p22-p21 Fanconi anemia, complementation group F (3) |FANCF|603467|11p15 Fanconi anemia, complementation group G (3) |XRCC9, FANCG|602956|9p13 Fanconi renotubular syndrome (2) |FRTS, RFS|134600|15q15.3 Fanconi-Bickel syndrome, 227810 (3) |SLC2A2, GLUT2|138160|3q26.1-q26.3 Farber lipogranulomatosis (3) |ASAH, AC|228000|8p22-p21.3 Fatty liver, acute, of pregnancy (3) |HADHA, MTPA|600890|2p23 Favism (3) |G6PD, G6PD1|305900|Xq28 Fechtner syndrome, 153640 (3) |MYH9, MHA, FTNS, DFNA17|160775|22q11.2 Fertile eunuch syndrome, 228300 (3) |GNRHR, LHRHR|138850|4q21.2 Fetal hydantoin syndrome (1) (?) |EPHX1|132810|1q42.1 Fibrodysplasia ossificans progressiva (2) |FOP|135100|4q27-q31 Fibromatosis, gingival, 135300 (3) |SOS1, GINGF, GF1, HGF|182530|2p22-p21 Fibromatosis, gingival, 2, 135300 (2) |GINGF2, GGF2, HGF2|605544|5q13-q22 Fibrosis of extraocular muscles, congenital, 1 (2) |FEOM1, CFEOM1, FEOM1|135700|12p11.2-q12 Fibrosis of extraocular muscles, congenital, 2 (2) |FEOM2, CFEOM2|602078|11q13.2 Fibrosis of extraocular muscles, congenital, 3 (2) |FEOM3|600638|16q24.2-q24.3 Fibrosis of extraocular muscles, congenital, 3A (2) |FEOM3A|607034|12p11.2-q12 Fibrosis, congenital, of vertically acting extraocular muscles (2) |FEOM3|600638|16q24.2-q24.3 Fish-eye disease, 136120 (3) |LCAT|606967|16q22.1 Fletcher factor deficiency (1) |KLKB1, KLK3|229000|4q35 Forebrain defects (3) |TDGF1|187395|3p23-p21 Foveal hypoplasia, isolated, 136520 (3) |PAX6, AN2|106210|11p13 Foveomacular dystrophy, adult-onset, with choroidal neovascularization (3) |RDS, RP7|179605|6p21.1-cen Fragile X syndrome (3) |FMR1, FRAXA|309550|Xq27.3 Frasier syndrome, 136680 (3) |WT1|194070|11p13 Friedreich ataxia with retained reflexes, 229300 (3) |FRDA, FARR|606829|9q13 Friedreich ataxia, 229300 (2) |FRDA2|601992|9p23-p11 Friedreich ataxia, 229300 (3) |FRDA, FARR|606829|9q13 Fructose intolerance (3) |ALDOB|229600|9q22.3 Fructose-bisphosphatase deficiency (1) |FBP1|229700|9q22.2-q22.3 Fucosidosis (3) |FUCA1|230000|1p34 Fucosyltransferase-6 deficiency (3) |FUT6|136836|19p13.3 Fumarase deficiency, 606812 (3) |FH|136850|1q42.1 Fundus albipunctatus, 136880 (3) |RDH5|601617|12q13-q14 Fundus albipunctatus, 136880 (3) |RLBP1|180090|15q26 Fundus flavimaculatus, 248200 (2) |ABCA4, ABCR, STGD1, FFM, RP19|601691|1p21-p13 G6PD deficiency (3) |G6PD, G6PD1|305900|Xq28 GABA-transaminase deficiency (3) |ABAT, GABAT|137150|16p13.3 GAMT deficiency (3) |GAMT|601240|19p13.3 GM1-gangliosidosis (3) |GLB1|230500|3p21.33 GM2-gangliosidosis, AB variant (3) |GM2A|272750|5q31.3-q33.1 GM2-gangliosidosis, several forms, 272800 (3) |HEXA, TSD|606869|15q23-q24 GRACILE syndrome (2) |FLNMS, GRACILE|603358|2q33-q37 Galactokinase deficiency with cataracts, 230200 (3) |GALK1|604313|17q24 Galactose epimerase deficiency, 230350 (3) |GALE|606953|1p36-p35 Galactosemia, 230400 (3) |GALT|606999|9p13 Galactosialidosis (3) |PPGB, GSL, NGBE, GLB2, CTSA|256540|20q13.1 Gardner syndrome (3) |APC, GS, FPC|175100|5q21-q22 Gastric cancer, 137215 (3) |APC, GS, FPC|175100|5q21-q22 Gastric cancer, 137215 (3) |IRF1, MAR|147575|5q31.1 Gastric cancer, familial diffuse, 137215 (3) |CDH1, UVO|192090|16q22.1 Gastric cancer, somatic, 137215 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Gastroesophageal reflux (2) |GER|109350|13q14 Gastrointestinal stromal tumors (3) |KIT, PBT|164920|4q12 Gaucher disease with cardiovascular calcification, 231005 (3) |GBA|606463|1q21 Gaucher disease, 230800 (3) |GBA|606463|1q21 Gaucher disease, variant form (3) |PSAP, SAP1|176801|10q22.1 Generalized epilepsy with febrile seizures plus, 604233 (3) |SCN1B, GEFSP1|600235|19q13.1 Geniospasm (2) |GSM1, GSP|190100|9q13-q21 Germ cell tumor (3) |BCL10|603517|1p22 Germ cell tumors, 273300 (3) |KIT, PBT|164920|4q12 Gerstmann-Straussler disease, 137440 (3) |PRNP, PRIP|176640|20pter-p12 Giant axonal neuropathy-1, 256850 (3) |GAN, GAN1|605379|16q24.1 Giant cell hepatitis, neonatal, 231100 (3) |CYP7B1|603711|8q21.3 Giant platelet disorder, isolated (3) |GP1BB|138720|22q11.2 Giant-cell fibroblastoma (3) |PDGFB, SIS|190040|22q12.3-q13.1 Gigantism due to GHRF hypersecretion (1) |GHRH, GHRF|139190|20q11.2 Gitelman syndrome, 263800 (3) |SLC12A3, NCCT, TSC|600968|16q13 Glanzmann thrombasthenia, type A (3) |ITGA2B, GP2B, CD41B|273800|17q21.32 Glanzmann thrombasthenia, type B (3) |ITGB3, GP3A|173470|17q21.32 Glaucoma 1A, primary open angle, juvenile-onset, 137750 (3) |MYOC, TIGR, GLC1A, JOAG, GPOA|601652|1q24.3-q25.2 Glaucoma 1A, primary open angle, recessive (3) |MYOC, TIGR, GLC1A, JOAG, GPOA|601652|1q24.3-q25.2 Glaucoma 1B, primary open angle, adult onset, 137760 (3) |GLC1B|606689|2cen-q13 Glaucoma 1C, primary open angle (2) |GLC1C|601682|3q21-q24 Glaucoma 1D, primary open angle (2) |GLC1D|602429|8q23 Glaucoma 1E, primary open angle, adult-onset, 137760 (3) |OPTN, FIP2, HYPL, NRP, GLC1E|602432|Chr.10 Glaucoma 1F (2) |GLC1F|603383|7q35-q36 Glaucoma 3, primary infantile, B (2) |GLC3B|600975|1p36.2-p36.1 Glaucoma 3A, primary infantile, 231300 (3) |CYP1B1, GLC3A|601771|2p22-p21 Glioblastoma multiforme, 137800 (2) |DMBT1|601969|10q25.3-q26.1 Glioblastoma, 137800 (2) |WDR11, DR11, KIAA1351|606417|10q26 Glioblastoma, somatic, 137800 (3) |LGI1, EPT|604619|10q24 Glioma (1) |GAS41|602116|12q13-q15 Gliosis, familial progressive subcortical (2) |GPSC|221820|17q21-q22 Glomerulocystic kidney disease, hypoplastic, 137920 (3) |TCF2, HNF2|189907|17cen-q21.3 Glomerulopathy, fibronectin (2) |GFND|601894|1q32 Glomerulosclerosis, focal segmental, 1, 603278 (3) |ACTN4, FSGS1, FSGS|604638|19q13 Glomerulosclerosis, focal segmental, 2 (2) |FSGS2|603965|11q21-q22 Glomuvenous malformations, 138000 (3) |GLML, GVM, VMGLOM|601749|1p22-p21 Glucocorticoid deficiency, due to ACTH unresponsiveness (1) |MC2R|202200|18p11.2 Glucose transport defect, blood-brain barrier, 606777 (3) |SLC2A1, GLUT1|138140|1p35-p31.3 Glucose/galactose malabsorption, 606824 (3) |SLC5A1, SGLT1|182380|22q13.1 Glucosidase I deficiency, 606056 (3) |GCS1|601336|2p13-p12 Glutaricaciduria, type I (3) |GCDH|231670|19p13.2 Glutaricaciduria, type IIA (1) |ETFA, GA2|231680|15q23-q25 Glutaricaciduria, type IIB (3) |ETFB|130410|19q13.3 Glutaricaciduria, type IIC (3) |ETFDH|231675|4q32-qter Glutathioninuria (1) |GGT1, GTG|231950|22q11.1-q11.2 Glycerol kinase deficiency (3) |GK|307030|Xp21.3-p21.2 Glycine N-methyltransferase deficiency, 606664 (3) |GNMT|606628|6p12 Glycine encephalopathy, 605899 (3) |AMT, NKH, GCE|238310|3p21.2-p21.1 Glycine encephalopathy, 605899 (3) |GCSH, NKH|238330|16q24 Glycine encephalopathy, 605899 (3) |GLDC, HYGN1, GCSP, GCE, NKH|238300|9p22 Glycogen storage disease I (3) |G6PC, G6PT|232200|17q21 Glycogen storage disease II, 232300 (3) |GAA|606800|17q25.2-q25.3 Glycogen storage disease IIIa (3) |AGL, GDE|232400|1p21 Glycogen storage disease IIIb (3) |AGL, GDE|232400|1p21 Glycogen storage disease IIb, 300257 (3) |LAMP2, LAMPB|309060|Xq24 Glycogen storage disease IV (3) |GBE1|232500|3p12 Glycogen storage disease Ib, 232220 (3) |G6PT1|602671|11q23 Glycogen storage disease Ic, 232240 (3) |G6PT1|602671|11q23 Glycogen storage disease VI (3) |PYGL|232700|14q21-q22 Glycogen storage disease VII (3) |PFKM|232800|12q13.3 Glycogen storage disease, type 0, 240600 (3) |GYS2|138571|12p12.2 Glycogenosis, X-linked hepatic, type I (3) |PHKA2, PHK|306000|Xp22.2-p22.1 Glycogenosis, X-linked hepatic, type II (3) |PHKA2, PHK|306000|Xp22.2-p22.1 Glycogenosis, hepatic, autosomal (3) |PHKG2|172471|16p12.1-p11.2 Glycoprotein Ia deficiency (2) (?) |ITGA2, CD49B, BR|192974|5q23-q31 Goeminne TKCR syndrome (2) |TKCR, TKC|314300|Xq28 Goiter, adolescent multinodular (1) |TG|188450|8q24.2-q24.3 Goiter, congenital (3) |TPO, TPX|606765|2p25 Goiter, familial, due to TTF-1 defect (1) |TITF1, NKX2A, TTF1|600635|14q13 Goiter, multinodular, 1 (2) |MNG1|138800|14q Goiter, multinodular, 2 (2) |MNG2|300273|Xp22 Goiter, multinodular, 3 (2) |MNG3|606082|3q26.1-q26.3 Goiter, nonendemic, simple (3) |TG|188450|8q24.2-q24.3 Gonadal dysgenesis, 46XY, partial, with minifascicular neuropathy, 607080 (3) |DHH|605423|12q13.1 Gonadal dysgenesis, XY female type (2) |GDXY, TDFX, SRVX|306100|Xp22.11-p21.2 Gonadal dysgenesis, XY type (3) |SRY, TDF|480000|Yp11.3 Gonadotropin deficiency (2) (?) |GTD|306190|Xp21 Graves disease, 275000 (1) |TSHR|603372|14q31 Graves disease, susceptibility to, X-linked, 275000 (2) |GRDX, GD3|300351|Xp11 Greig cephalopolysyndactyly syndrome, 175700 (3) |GLI3, PAPA, PAPB|165240|7p13 Griscelli syndrome, 214450 (3) |RAB27A, RAM|603868|15q21 Griscelli syndrome-type pigmentary dilution with mental retardation, 214450 (3) |MYO5A, MYH12|160777|15q21 Growth hormone deficient dwarfism (3) |GHRHR|139191|7p15-p14 Growth retardation with deafness and mental retardation (3) |IGF1|147440|12q22-q24.1 Gustavson syndrome (2) |GUST|309555|Xq26 Guttmacher syndrome, 176305 (3) |HOXA13, HOX1J|142959|7p15-p14.2 Gynecomastia, familial, due to increased aromatase activity (1) |CYP19, ARO|107910|15q21.1 Gyrate atrophy of choroid and retina with ornithinemia, B6 responsive or unresponsive (3) |OAT|258870|10q26 HDL deficiency, familial, 604091 (3) |ABCA1, ABC1, HDLDT1, TGD|600046|9q22-q31 HDR syndrome (2) |HDR|146255|10p15.1-p14 HELLP syndrome, maternal, of pregnancy (3) |HADHA, MTPA|600890|2p23 HMG-CoA lyase deficiency (3) |HMGCL|246450|1pter-p33 HMG-CoA synthase-2 deficiency, 605911 (3) |HMGCS2|600234|1p13-p12 HPFH, deletion type (3) |HBB|141900|11p15.5 HPFH, nondeletion type A (3) |HBG1|142200|11p15.5 HPFH, nondeletion type G (3) |HBG2|142250|11p15.5 HPRT-related gout, 300323 (3) |HPRT1, HPRT|308000|Xq26-q27.2 Hailey-Hailey disease, 169600 (3) |ATP2C1, BCPM, HHD|604384|3q21-q24 Haim-Munk syndrome, 245010 (3) |CTSC, CPPI, PALS, PLS, HMS|602365|11q14.1-q14.3 Hand-foot-uterus syndrome, 140000 (3) |HOXA13, HOX1J|142959|7p15-p14.2 Harderoporphyrinuria (3) |CPO|121300|3q12 Hartnup disorder (2) |HND|234500|5p15 Hashimoto thyroiditis (2) |HT|140300|8q23-q24 Hay-Wells syndrome, 106260 (3) |TP63, KET, EEC3, SHFM4|603273|3q27 Hearing loss, low-frequency sensorineural, 600965 (3) |WFS1, WFRS, WFS, DFNA6|606201|4p16.1 Heart block, nonprogressive, 113900 (3) |SCN5A, LQT3, IVF, HB1|600163|3p21 Heart block, progressive familial, type I, 113900 (2) |HB1, PFHB1, HBN1|604559|19q13.2-q13.3 Heart block, progressive, type I, 113900 (3) |SCN5A, LQT3, IVF, HB1|600163|3p21 Heinz body anemia (3) |HBA2|141850|16pter-p13.3 Heinz body anemias, alpha- (3) |HBA1|141800|16pter-p13.3 Heinz body anemias, beta- (3) |HBB|141900|11p15.5 Hemangioma, capillary infantile (2) |HCI, HEMC|602089|5q31-q33 Hemangioma, capillary infantile, somatic, 602089 (3) |FLT4, VEGFR3, PCL|136352|5q35.3 Hemangioma, capillary infantile, somatic, 602089 (3) |KDR|191306|4q12 Hematopoiesis, cyclic, 162800 (3) |ELA2|130130|19p13.3 Hematuria, familial benign (3) |COL4A4|120131|2q36-q37 Heme oxygenase-1 deficiency (3) |HMOX1|141250|22q12 Hemifacial microsomia (2) |HFM|164210|14q32 Hemiplegic migraine, familial, 141500 (3) |CACNA1A, CACNL1A4, SCA6|601011|19p13 Hemochromatosis (3) |HFE, HLA-H|235200|6p21.3 Hemochromatosis, 604250 (3) |TFR2|604720|7q22 Hemochromatosis, 606069 (3) |SLC11A3, FPN1, IREG1|604653|2q32 Hemochromatosis, type 2 (2) |HFE2|602390|1q Hemodialysis-related amyloidosis (1) |B2M|109700|15q21-q22 Hemoglobin H disease (3) |HBA2|141850|16pter-p13.3 Hemolytic anemia due to ADA excess (1) |ADA|102700|20q13.11 Hemolytic anemia due to G6PD deficiency (3) |G6PD, G6PD1|305900|Xq28 Hemolytic anemia due to PGK deficiency (3) |PGK1, PGKA|311800|Xq13 Hemolytic anemia due to adenylate kinase deficiency (3) |AK1|103000|9q34.1 Hemolytic anemia due to band 3 defect (3) |SLC4A1, AE1, EPB3|109270|17q21-q22 Hemolytic anemia due to bisphosphoglycerate mutase deficiency (1) |BPGM|222800|7q31-q34 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3) |GCLC, GLCLC|606857|6p12 Hemolytic anemia due to glucosephosphate isomerase deficiency (3) |GPI|172400|19q13.1 Hemolytic anemia due to glutathione peroxidase deficiency (1) |GPX1|138320|3p21.3 Hemolytic anemia due to glutathione reductase deficiency (1) |GSR|138300|8p21.1 Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3) |GSS, GSHS|601002|20q11.2 Hemolytic anemia due to hexokinase deficiency (3) |HK1|142600|10q22 Hemolytic anemia due to phosphofructokinase deficiency (1) |PFKL|171860|21q22.3 Hemolytic anemia due to triosephosphate isomerase deficiency (3) |TPI1|190450|12p13 Hemolytic-uremic syndrome, 235400 (3) |HF1, CFH, HUS|134370|1q32 Hemophagocytic lymphohistiocytosis, familial, 1 (2) |HPLH1|603552|9q21.3-q22 Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) |PRF1, HPLH2|170280|10q22 Hemophilia A (3) |F8, F8C, HEMA|306700|Xq28 Hemophilia B (3) |F9, HEMB|306900|Xq27.1-q27.2 Hemorrhagic diathesis due to PAI1 deficiency (1) |PAI1, PLANH1, SERPINE1|173360|7q21.3-q22 Hemorrhagic diathesis due to \`antithrombin\' Pittsburgh (3) |PI, AAT|107400|14q32.1 Hemorrhagic diathesis due to factor V deficiency (3) |F5|227400|1q23 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3) |CP|117700|3q23-q24 Hepatic failure, early onset, and neurologic disorder (3) |SCOD1, SCO1|603644|17p13-p12 Hepatic lipase deficiency (3) |LIPC|151670|15q21-q23 Hepatoblastoma (3) |CTNNB1|116806|3p22-p21.3 Hepatocellular cancer, 114550 (3) |PDGFRL, PDGRL, PRLTS|604584|8p22-p21.3 Hepatocellular carcinoma (1) (?) |LCO|165320|2q14-q21 Hepatocellular carcinoma (3) |IGF2R, MPRI|147280|6q26 Hepatocellular carcinoma, 114550 (3) |AXIN1, AXIN|603816|16p13.3 Hepatocellular carcinoma, 114550 (3) |CTNNB1|116806|3p22-p21.3 Hepatocellular carcinoma, 114550 (3) |TP53, P53|191170|17p13.1 Hepatocellular carcinoma, childhood type, 114550 (3) |MET|164860|7q31 Hereditary hemorrhagic telangiectasia-1, 187300 (3) |ENG, END, HHT1, ORW|131195|9q34.1 Hereditary hemorrhagic telangiectasia-2, 600376 (3) |ACVRL1, ACVRLK1, ALK1, HHT2|601284|12q11-q14 Hereditary persistence of fetal hemoglobin, heterocellular, Indian type (2) (?) |HPFH2|142335|7q36 Hermansky-Pudlak syndrome, 203300 (3) |AP3B1, ADTB3A, HPS2|603401|Chr.5 Hermansky-Pudlak syndrome, 203300 (3) |HPS1|604982|10q23.1 Hermansky-Pudlak syndrome, 203300 (3) |HPS3|606118|3q24 Hermansky-Pudlak syndrome, 203300 (3) |HPS4|606682|22q11.2-q12.2 Heterocellular hereditary persistence of fetal hemoglobin, Swiss type (2) |FCP1, FCPX, FCP|305435|Xp22.2 Heterotaxy, X-linked visceral, 306955 (3) |ZIC3, HTX1, HTX|300265|Xq26.2 Heterotaxy, visceral (2) (?) |HTX3|606325|6q21 Heterotaxy, visceral, 605376 (3) |CFC1, CRYPTIC|605194|Chr.2 Heterotopia, periventricular, 300049 (3) |FLNA, FLN1, ABPX, NHBP|300017|Xq28 Hip dysplasia, Beukes type (2) |BHD, BFHD|142669|4q35 Hirschsprung disease, 142623 (3) |GDNF|600837|5p13.1-p12 Hirschsprung disease, 142623 (3) |NRTN, NTN|602018|19p13.3 Hirschsprung disease, 142623 (3) |RET, MEN2A|164761|10q11.2 Hirschsprung disease, cardiac defects, and autonomic dysfunction (3) |ECE1|600423|1p36.1 Hirschsprung disease-2, 600155 (3) |EDNRB, HSCR2, ABCDS|131244|13q22 Hirschsprung disease-mental retardation syndrome without Hirschsprung disease, 235730 (3) |ZFHX1B, SMADIP1, SIP1|605802|2q22 Hirschsprung disease-mental retardation syndrome, 235730 (3) |ZFHX1B, SMADIP1, SIP1|605802|2q22 Histiocytoma (3) |TP53, P53|191170|17p13.1 Holoprosencephaly-1 (2) |HPE1|236100|21q22.3 Holoprosencephaly-2, 157170 (3) |SIX3, HPE2|603714|2p21 Holoprosencephaly-3, 142945 (3) |SHH, HPE3, HLP3, SMMCI|600725|7q36 Holoprosencephaly-4, 142946 (3) |TGIF, HPE4|602630|18p11.3 Holoprosencephaly-5 (3) |ZIC2, HPE5|603073|13q32 Holoprosencephaly-6, 236100 (2) |HPE6|605934|2q37.1-q37.3 Holoprosencephaly-7 (3) |PTCH, NBCCS, BCNS, HPE7|601309|9q22.3 Holt-Oram syndrome, 142900 (3) |TBX5|601620|12q24.1 Homocystinuria due to MTHFR deficiency, 236250 (3) |MTHFR|607093|1p36.3 Homocystinuria, B6-responsive and nonresponsive types (3) |CBS|236200|21q22.3 Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) |MTRR|602568|5p15.3-p15.2 Homozygous 2p16 deletion syndrome, 606407 (3) |SLC3A1, ATR1, D2H, NBAT|104614|2p16.3 Hoyeraal-Hreidarsson syndrome, 300240 (3) |DKC1, DKC|300126|Xq28 Humoral hypercalcemia of malignancy (1) (?) |PTHLH|168470|12p12.1-p11.2 Huntington disease (3) |HD, IT15|143100|4p16.3 Huntington disease-like 1, 603218 (3) |PRNP, PRIP|176640|20pter-p12 Huntington disease-like 2, 606438 (3) |JPH3, JP3, HDL2|605268|16q24.3 Huntington disease-like 3 (2) |HDL3, HLN2|604802|4p15.3 Huriez syndrome (2) |TYS, HRZ|181600|4q23 Hydatidiform mole (2) |HYDM|231090|19q13.3-q13.4 Hydrocephalus due to aqueductal stenosis, 307000 (3) |L1CAM, CAML1, HSAS1|308840|Xq28 Hydrolethalus syndrome (2) |HLS|236680|11q23-q25 Hydrops fetalis, one form (1) |GPI|172400|19q13.1 Hyper-IgD syndrome, 260920 (3) |MVK, MVLK|251170|12q24 Hyper-IgE syndrome (2) |HIES|147060|4q21 Hyperaldosteronism, familial, type II (2) |FHII|605635|7p22 Hyperbilirubinemia, familial transcient neonatal, 237900 (3) |UGT1A1, UGT1, GNT1|191740|2q37 Hypercalciuria, absorptive (2) |HCA1|143870|4q33-qter Hypercalciuria, absorptive, 2, 143870 (2) |HCA2|605329|1q23.3-q24 Hypercalciuric hypercalcemia, type III (2) |HHC3, FBH3|600740|19q13 Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) |APOB, FLDB|107730|2p24 Hypercholesterolemia, familial, 143890 (3) |LDLR, FHC, FH|606945|19p13.2 Hypercholesterolemia, familial, 3 (2) |HCHOLA3, FH3|603776|1p34.1-p32 Hypercholesterolemia, familial, autosomal recessive, 603813 (3) |ARH, FHCB2, FHCB1|605747|1p36-p35 Hyperekplexia and spastic paraparesis (3) |GLRA1, STHE|138491|5q32 Hyperferritinemia-cataract syndrome, 600886 (3) |FTL|134790|19q13.3-q13.4 Hyperglycerolemia (3) |GK|307030|Xp21.3-p21.2 Hyperimmunoglobulin G1 syndrome (2) (?) |IGHR|144120|14q32.33 Hyperinsulinism, familial, 602485 (3) |GCK|138079|7p15-p13 Hyperinsulinism-hyperammonemia syndrome, 606762 (3) |GLUD1|138130|10q23.3 Hyperkalemic periodic paralysis, 170500 (3) |SCN4A, HYPP, NAC1A|603967|17q23.1-q25.3 Hyperleucinemia-isoleucinemia or hypervalinemia (1) (?) |BCAT1, BCT1|113520|12p12 Hyperlipidemia, combined, 2 (2) |HYPLIP2|604499|11p Hyperlipidemia, familial combined, 1 (2) |HYPLIP1|602491|1q21-q23 Hyperlipoproteinemia I (1) |LPL, LIPD|238600|8p22 Hyperlipoproteinemia, type III (3) |APOE|107741|19q13.2 Hyperlipoproteinemia, type Ib (3) |APOC2|207750|19q13.2 Hyperlysinemia, 238700 (3) |AASS|605113|7q31.3 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency (3) |MAT1A, MATA1, SAMS1|250850|10q22 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) |SLC25A15, ORNT1, HHH|603861|13q14 Hyperoxaluria, primary, type 1, 259900 (3) |AGXT, SPAT|604285|2q36-q37 Hyperoxaluria, primary, type II, 260000 (3) |GRHPR, GLXR|604296|9cen Hyperparathyroidism, AD, 145000 (3) |MEN1|131100|11q13 Hyperparathyroidism, familial primary, 145000 (2) |HRPT2|145001|1q25-q31 Hyperparathyroidism-jaw tumor syndrome (2) |HRPT2|145001|1q25-q31 Hyperphenylalaninemia due to pterin-4a-carbinolamine dehydratase deficiency, 264070 (3) |PCBD, DCOH|126090|10q22 Hyperprolinemia, type II, 239510 (3) |ALDH4A1, ALDH4, P5CDH|606811|1p36 Hyperprothrombinemia (3) |F2|176930|11p11-q12 Hypertension with brachydactyly (2) |HTNB|112410|12p12.2-p11.2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3) |NR3C2, MLR, MCR|600983|4q31.1 Hypertension, essential, 145500 (1) (?) |PNMT, PENT|171190|17q21-q22 Hypertension, essential, 145500 (3) |AGTR1, AGTR1A, AT2R1|106165|3q21-q25 Hypertension, mild low-renin (3) |HSD11B2, HSD11K|218030|16q22 Hypertension, salt-resistant (1) (?) |NPR3, ANPRC|108962|5p14-p12 Hyperthroidism, congenital (3) |TSHR|603372|14q31 Hyperthyroidism, congenital (3) |TPO, TPX|606765|2p25 Hypertrichosis, congenital generalized (2) |HTC2, HCG, CGH|307150|Xq24-q27.1 Hypertriglyceridemia (3) |APOC3|107720|11q23 Hypertriglyceridemia, one form (3) |APOA1|107680|11q23 Hypervalinemia or hyperleucine-isoleucinemia (1) (?) |BCAT2, BCT2|113530|19q13 Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3) |CYP11B2|124080|8q21 Hypoaldosteronism, congenital, due to CMO II deficiency (3) |CYP11B2|124080|8q21 Hypoalphalipoproteinemia (3) |APOA1|107680|11q23 Hypoalphalipoproteinemia, primary (2) |HYALP, HDLD3|605201|11q23.3 Hypobetalipoproteinemia (3) |APOB, FLDB|107730|2p24 Hypobetalipoproteinemia, familial, 2 (2) |FHBL2|605019|3p22-p21.1 Hypocalcemia, autosomal dominant, 601198 (3) |CASR, HHC1, PCAR1|601199|3q13.3-q21 Hypocalciuric hypercalcemia, type I, 145980 (3) |CASR, HHC1, PCAR1|601199|3q13.3-q21 Hypocalciuric hypercalcemia, type II (2) |HHC2, FHH2|145981|19p13.3 Hypochondroplasia, 146000 (3) |FGFR3, ACH|134934|4p16.3 Hypochromic microcytic anemia (3) |HBA2|141850|16pter-p13.3 Hypodontia with orofacial cleft, 106600 (3) |MSX1, HOX7, HYD1|142983|4p16.1 Hypodontia, 106600 (3) |PAX9|167416|14q12-q13 Hypodontia, autosomal dominant, 106600 (3) |MSX1, HOX7, HYD1|142983|4p16.1 Hypodontia, autosomal recessive (2) |HYD2|602639|16q12.1 Hypofibrinogenemia, gamma type (3) |FGG|134850|4q28 Hypoglobulinemia and absent B cells (3) |BLNK, SLP65|604515|10q23.2 Hypoglycemia due to PCK1 deficiency (1) (?) |PCK1|261680|20q13.31 Hypogonadism, hypergonadotropic (3) |LHB|152780|19q13.32 Hypogonadotropic hypogonadism (3) |GNRHR, LHRHR|138850|4q21.2 Hypogonadotropic hypogonadism (3) |LHCGR|152790|2p21 Hypogonadotropic hypogonadism due to GNRH deficiency, 227200 (1) (?) |GNRH1, LNRH|152760|8p21-p11.2 Hypokalemic periodic paralysis, 170400 (3) |CACNA1S, CACNL1A3, CCHL1A3|114208|1q32 Hypokalemic periodic paralysis, 170400 (3) |KCNE3, HOKPP|604433|11q13-q14 Hypokalemic periodic paralysis, 170400 (3) |SCN4A, HYPP, NAC1A|603967|17q23.1-q25.3 Hypolactasia, adult type, 223100 (3) |LCT, LAC, LPH|603202|2q21 Hypomagnesemia with secondary hypocalcemia (2) |HOMG, HSH, HMGX|602014|9q12-q22.2 Hypomagnesemia, primary, 248250 (3) |CLDN16, PCLN1|603959|3q27 Hypomagnesemia-2, renal, 154020 (3) |FXYD2, ATP1G1, HOMG2|601814|11q23 Hypomyelination, congenital (3) |MPZ, CMT1B|159440|1q22 Hypoparathyroidism, X-linked (2) |HPT, HPTX, HYPX|307700|Xq26-q27 Hypoparathyroidism, autosomal dominant(3) |PTH|168450|11p15.3-p15.1 Hypoparathyroidism, autosomal recessive (3) |PTH|168450|11p15.3-p15.1 Hypoparathyroidism, familial (2) |FIH|146200|3q13 Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3) |GATA3, HDR|131320|10p15 Hypoparathyroidism-retardation-dysmorphism syndrome (2) |HRD|241410|1q42-q43 Hypophosphatasia, adult, 146300 (1) (?) |ALPL, HOPS|171760|1p36.1-p34 Hypophosphatasia, childhood, 241510 (3) |ALPL, HOPS|171760|1p36.1-p34 Hypophosphatasia, infantile, 241500 (3) |ALPL, HOPS|171760|1p36.1-p34 Hypophosphatemia, hereditary (3) |PHEX, HYP, HPDR1|307800|Xp22.2-p22.1 Hypophosphatemia, type III (3) |CLCN5, CLCK2, NPHL2, DENTS|300008|Xp11.22 Hypophosphatemic rickets, autosomal dominant, 193100 (3) |FGF23, ADHR, HPDR2|605380|12p13.3 Hypoprothrombinemia (3) |F2|176930|11p11-q12 Hypothyroidism, congenital, 274400 (3) |SLC5A5, NIS|601843|19p13.2-p12 Hypothyroidism, congenital, due to TSH resistance, 275200 (3) |TSHR|603372|14q31 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3) |PAX8|167415|2q12-q14 Hypothyroidism, hereditary congenital (3) |TG|188450|8q24.2-q24.3 Hypothyroidism, nongoitrous (3) |TSHB|188540|1p13 Hypotrichosis simplex (2) |HTS|605389|18p11.32-p11.23 Hypotrichosis simplex of scalp (2) |HTSS|146520|6p21.3 Hypotrichosis, Marie Unna type (2) |MUHH|146550|8p21 Hypotrichosis, congential, with juvenile macular dystrophy, 601553 (3) |CDH3, CDHP, PCAD, HJMD|114021|16q22.1 Hypouricemia, renal, 220150 (3) |SLC22A12, OAT4L, URAT1|607096|11q13 IMAGE syndrome (2) |IMAGE|300290|Chr.X Ichthyosiform erythroderma, congenital, 242100 (3) |TGM1, ICR2, LI1|190195|14q11.2 Ichthyosis bullosa of Siemens, 146800 (3) |KRT2A, KRT2E|600194|12q11-q13 Ichthyosis vulgaris, 146700 (1) (?) |FLG|135940|1q21 Ichthyosis, X-linked (3) |STS, ARSC1, ARSC, SSDD|308100|Xp22.32 Ichthyosis, lamellar, 5 (2) |LI5|606545|17p13.2-p13.1 Ichthyosis, lamellar, autosomal recessive, 242300 (3) |TGM1, ICR2, LI1|190195|14q11.2 Ichthyosis, lamellar, type 2 (2) |ICR2B, LI2|601277|2q33-q35 Ichthyosis, lamellar, type 3 (2) |LI3|604777|19p12-q12 Ichthyosis, nonlamellar and nonerythrodermic, congenital (2) |INLNE|604781|19p13.2-p13.1 IgG2 deficiency, selective (3) |IGHG2|147110|14q32.33 Immunodeficiency due to defect in CD3-gamma (3) |CD3G|186740|11q23 Immunodeficiency with hyper-IgM, type 2, 605258 (3) |AICDA, AID, HIGM2|605257|12p13 Immunodeficiency with hyper-IgM, type 3, 606843 (3) |TNFRSF5, CD40|109535|20q12-q13.2 Immunodeficiency, T-cell receptor/CD3 complex (3) |CD3E|186830|11q23 Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) |TNFSF5, CD40LG, HIGM1, IGM|300386|Xq26 Immunodeficiency-centromeric instability-facial anomalies syndrome, 242860 (3) |DNMT3B, ICF|602900|20q11.2 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3) |FOXP3, IPEX, AIID, XPID, PIDX|300292|Xp11.23-q13.3 Immunoglobulin A deficiency (2) |IGAD1|137100|6p21.3 Inclusion body myopathy with Paget disease and frontotemporal dementia (2) |IBMPFD|605382|9p13.3-p12 Inclusion body myopathy, autosomal recessive, 600737 (3) |GNE, GLCNE, IBM2|603824|9p12-p11 Inclusion body myopathy-3, 605637 (3) |MYH2|160740|17p13.1 Incontinentia pigmenti, type II, 308300 (3) |IKBKG, NEMO, FIP3, IP2|300248|Xq28 Infantile spasm syndrome, X-linked, 308350 (3) |ARX, ISSX, PRTS, MRXS1|300382|Xp22.3-p21.1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3) |NTRK1, TRKA, MTC|191315|1q21-q22 Insomnia, fatal familial (3) |PRNP, PRIP|176640|20pter-p12 Interferon, alpha, deficiency (1) |IFNA1, IFNA@|147660|9p22 Interferon, immune, deficiency (1) |IFNG|147570|12q14 Interleukin-2 receptor, alpha chain, deficiency of (3) |IL2RA, IL2R|147730|10p15-p14 Intestinal pseudoobstruction, neuronal, X-linked (2) |IPOX, CIIPX|300048|Xq28 Iridogoniodysgenesis syndrome-2, 137600 (3) |PITX2, IDG2, RIEG1, RGS, IGDS2|601542|4q25-q26 Iridogoniodysgenesis, 601631 (3) |FOXC1, FKHL7, FREAC3|601090|6p25 Iris hypoplasia and glaucoma (3) |FOXC1, FKHL7, FREAC3|601090|6p25 Iron overload, autosomal dominant (3) |FTH1, FTHL6|134770|11q12-q13 Isolated growth hormone deficiency due to defect in GHRF (1) (?) |GHRH, GHRF|139190|20q11.2 Isolated growth hormone deficiency, Illig type with absent GH and Kowarski type with bioinactive GH (3) |GH1, GHN|139250|17q22-q24 Isovalericacidemia (3) |IVD|243500|15q14-q15 Jackson-Weiss sydnrome, 123150 (3) |FGFR1, FLT2|136350|8p11.2-p11.1 Jackson-Weiss syndrome, 123150 (3) |FGFR2, BEK, CFD1, JWS|176943|10q26 Jacobsen syndrome (2) |JBS|147791|11q23 Jensen syndrome, 311150 (3) |TIMM8A, DFN1, DDP, MTS, DDP1|300356|Xq22 Jervell and Lange-Nielsen syndrome, 220400 (3) |KCNE1, JLNS, LQT5|176261|21q22.1-q22.2 Jervell and Lange-Nielsen syndrome, 220400 (3) |KCNQ1, KCNA9, LQT1, KVLQT1|192500|11p15.5 Joubert syndrome-1 (2) |JBTS1|213300|9q34.3 Juberg-Marsidi syndrome, 309590 (3) |ATRX, XH2, XNP, MRXS3|300032|Xq13 Kallmann syndrome (3) |KAL1, KMS, ADMLX|308700|Xp22.3 Kanzaki disease (3) |NAGA|104170|22q11 Kartagener syndrome, 244400 (3) |DNAH5, HL1, PCD|603335|5p15-p14 Kartagener syndrome, 244400 (3) |DNAI1, CILD1, ICS, PCD|604366|9p21-p13 Kenny-Caffey syndrome-1 (2) |KCS, KCS1|244460|1q42-q43 Keratitis, 148190 (3) |PAX6, AN2|106210|11p13 Keratoconus (2) (?) |KTCN|148300|20q12 Keratoderma, palmoplantar, nonepidermolytic (3) |KRT1|139350|12q13 Keratoderma, palmoplantar, with deafness, 148350 (3) |GJB2, CX26, DFNB1, PPK|121011|13q11-q12 Keratolytic winter erythema (2) |KWE|148370|8p23-p22 Keratosis follicularis spinulosa decalvans (2) |KFSD|308800|Xp22.2-p22.13 Keratosis palmoplantaris striata I, 148700 (3) |DSG1|125670|18q12.1-q12.2 Keratosis palmoplantaris striata II (3) |DSP, KPPS2, PPKS2|125647|6p24 Ketoacidosis due to SCOT deficiency (3) |SCOT, OXCT|245050|5p13 Keutel syndrome, 245150 (3) |MGP|154870|12p13.1-p12.3 Klippel-Feil syndrome (2) (?) |KFS|214300|5q11.2 Klippel-Feil syndrome with laryngeal malformation (2) |SGM1, KFSL|148900|8q22.2 Kniest dysplasia, 156550 (3) |COL2A1|120140|12q13.11-q13.2 Knobloch syndrome (2) |KNO, KS|267750|21q22.3 Krabbe disease, 245200 (3) |GALC|606890|14q31 Kufor-Rakeb syndrome (2) |KRPPD|606693|1p36 LCHAD deficiency (3) |HADHA, MTPA|600890|2p23 LIG4 syndrome, 606593 (3) |LIG4|601837|13q22-q34 Lactate dehydrogenase-B deficiency (3) |LDHB|150100|12p12.2-p12.1 Lactic acidosis due to defect in iron-sulfur cluster of complex I (1) |NDUFS1|157655|2q33-q34 Lacticacidemia due to PDX1 deficiency (3) |PDX1|245349|11p13 Lactoferrin-deficient neutrophils, 245480 (1) (?) |LTF|150210|3q21-q23 Langer mesomelic dysplasia, 249700 (3) |SHOX, GCFX, SS, PHOG|312865|Xpter-p22.32 Langer mesomelic dysplasia, 249700 (3) |SHOXY|400020|Ypter-p11.2 Langer-Giedion syndrome (2) |LGCR, LGS, TRPS2|150230|8q24.11-q24.13 Laron dwarfism, 262500 (3) |GHR|600946|5p13-p12 Larsen syndrome, autosomal dominant (2) |LRS1, LAR1|150250|3p21.1-p14.1 Laryngeal adductor paralysis (2) (?) |LAP|150270|6p21.3-p21.2 Leber congenital amaurosis, 204000 (2) |LCA3|604232|14q24 Leber congenital amaurosis, 204000 (2) |LCA5|604537|6q11-q16 Leber congenital amaurosis, 204000 (3) |CRB1, RP12|604210|1q31-q32.1 Leber congenital amaurosis, 204000 (3) |CRX, CORD2, CRD|602225|19q13.3 Leber congenital amaurosis, 204000 (3) |RPGRIP1, LCA6|605446|14q11 Leber congenital amaurosis, 604393 (3) |AIPL1, LCA4|604392|17p13.1 Leber congenital amaurosis, type I, 204000 (3) |GUCY2D, GUC2D, LCA1, CORD6|600179|17p13.1 Leber congenital amaurosis-2, 204100 (3) |RPE65, RP20|180069|1p31 Left ventricular noncompaction with congenital heart defects, 606617 (3) |DTNA, D18S892E, DRP3|601239|18q12.1-q12.2 Left ventricular noncompaction, familial isolated, 604169 (3) |DTNA, D18S892E, DRP3|601239|18q12.1-q12.2 Left-right axis malformation (3) |EBAF, TGFB4, LEFTY1|601877|1q42.1 Leigh syndrome, 256000 (3) |NDUFS7, PSST|601825|19p13 Leigh syndrome, 256000 (3) |NDUFS8|602141|11q13 Leigh syndrome, 256000 (3) |NDUFV1, UQOR1|161015|11q13 Leigh syndrome, 256000 (3) |SDHA, SDH2, SDHF|600857|5p15 Leigh syndrome, 256000(3) |NDUFS4, AQDQ|602694|5q11.1 Leigh syndrome, French-Canadian type (2) |LSFC|220111|Chr.2 Leigh syndrome, due to COX deficiency, 256000 (3) |SURF1|185620|9q34 Leiomyomatosis and renal cell cancer, 605839 (3) |FH|136850|1q42.1 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (3) |COL4A6|303631|Xq22.3 Lenz microphthalmia syndrome (2) |MAA, LZMS|309800|Xq27-q28 Leprechaunism, 246200 (3) |INSR|147670|19p13.2 Leri-Weill dyschondrosteosis, 127300 (3) |SHOX, GCFX, SS, PHOG|312865|Xpter-p22.32 Leri-Weill dyschondrosteosis, 127300 (3) |SHOXY|400020|Ypter-p11.2 Lesch-Nyhan syndrome, 300322, (3) |HPRT1, HPRT|308000|Xq26-q27.2 Lethal congenital contracture syndrome (2) |LCCS|253310|9q34 Leukemia, T-cell acute lymphoblastic (2) |LMO1, RBTN1, RHOM1|186921|11p15 Leukemia, T-cell acute lymphoblastic (2) |NOTCH1, TAN1|190198|9q34.3 Leukemia, T-cell acute lymphoblastoid (2) |LYL1|151440|19p13.2-p13.1 Leukemia, T-cell acute lymphocytic (2) |TLX1, HOX11, TCL3|186770|10q24 Leukemia, acute T-cell (2) |LMO2, RBTNL1, RHOM2, TTG2|180385|11p13 Leukemia, acute T-cell (2) |TCL2|151390|11p13 Leukemia, acute T-cell lymphoblastic (3) |AF10|602409|10p12 Leukemia, acute T-cell lymphoblastic (3) |CALM, CLTH|603025|11q14 Leukemia, acute lymphoblastic (1) |ETV6, TEL|600618|12p13 Leukemia, acute lymphoblastic (1) |TCF3, E2A|147141|19p13.3 Leukemia, acute lymphoblastic (2) |LALL|247640|9p22-p21 Leukemia, acute lymphoblastic (3) |NBS1, NBS|602667|8q21 Leukemia, acute lymphoblastic (3) |ZNFN1A1, IK1, LYF1|603023|7p12 Leukemia, acute myeloblastic (3) |ARNT|126110|1q21 Leukemia, acute myelogenous (2) |AMLCR2|602439|16q22 Leukemia, acute myelogenous, 601626 (3) |GMPS|600358|3q24 Leukemia, acute myeloid (1) |RUNX1, CBFA2, AML1|151385|21q22.3 Leukemia, acute myeloid (1) |SH3GL1, EEN|601768|19p13.3 Leukemia, acute myeloid (2) |D9S46E, CAN, CAIN, NUP214|114350|9q34.1 Leukemia, acute myeloid (3) |AF10|602409|10p12 Leukemia, acute myeloid (3) |ARHGEF12, LARG, KIAA0382|604763|11q23.3 Leukemia, acute myeloid (3) |CALM, CLTH|603025|11q14 Leukemia, acute myeloid (3) |CEBPA, CEBP|116897|19q13.1 Leukemia, acute myeloid, 601626 (1) |NSD1, ARA267|606681|5q35 Leukemia, acute myeloid, M2 type (1) |CSF2RA|306250|Xp22.32 Leukemia, acute myeloid, reduced survival in (3) |FLT3|136351|13q12 Leukemia, acute myeloid, therapy-related (1) |MSF, MSF1|604061|17q25 Leukemia, acute myeloid, with eosinophilia (1) |ABL2, ABLL, ARG|164690|1q24-q25 Leukemia, acute myelomonocytic (3) |AF1Q|604684|1q21 Leukemia, acute nonlymphocytic (2) |DEK, D6S231E|125264|6p23 Leukemia, acute pre-B-cell (2) |PBX1|176310|1q23 Leukemia, acute promyelocytic (1) |RARA|180240|17q12 Leukemia, acute promyelocytic, NPM/RARA type (3) |NPM1|164040|5q35 Leukemia, acute promyelocytic, NUMA/RARA type (3) |NUMA1|164009|11q13 Leukemia, acute promyelocytic, PL2F/RARA type (3) |PLZF|176797|11q23.1 Leukemia, acute promyelocytic, PML/RARA type (3) |PML, MYL|102578|15q22 Leukemia, acute promyeloyctic, STAT5B/RARA type (3) |STAT5B|604260|17q11.2 Leukemia, chronic lymphocytic, B-cell (2) |D13S25, DBM|109543|13q14 Leukemia, chronic myeloid (3) |ABL1|189980|9q34.1 Leukemia, chronic myeloid (3), Leukemia, acute lymphocytic (3) |BCR, CML, PHL, ALL|151410|22q11.21 Leukemia, juvenile myelomonocytic (3) |GRAF|605370|5q31 Leukemia, juvenile myelomonocytic (3) |NF1, VRNF, WSS|162200|17q11.2 Leukemia, lymphycytic, acute T-cell (1) |NUP98|601021|11p15 Leukemia, myeloid (3) |LPP|600700|3q28 Leukemia, myeloid, acute (1) |MLF1|601402|3q25.1 Leukemia, myeloid/lymphoid or mixed-lineage (2) |MLL, HRX, HTRX1|159555|11q23 Leukemia, transient, of Down syndrome (2) |TAM, MST|159595|21q11.2 Leukemia-1, T-cell acute lymphocytic (3) |TAL1, TCL5, SCL|187040|1p32 Leukemia-2, T-cell acute lymphoblastic (3) |TAL2|186855|9q31 Leukemia/lymphoma, B-cell, 1 (2) |BCL1|151400|11q13.3 Leukemia/lymphoma, B-cell, 2 (2) |BCL2|151430|18q21.3 Leukemia/lymphoma, B-cell, 3 (2) |BCL3|109560|19q13 Leukemia/lymphoma, T-cell (2) |TCL1A, TCL1|186960|14q32.1 Leukemia/lymphoma, T-cell (2) |TCL1B, TML1|603769|14q32.1 Leukemia/lymphoma, T-cell (2) |TCL4|186860|2q34 Leukemia/lymphoma, T-cell (3) |TCRA|186880|14q11.2 Leukocyte adhesion deficiency, 116920 (3) |ITGB2, CD18, LCAMB, LAD|600065|21q22.3 Leukoencephalopathy with vanishing white matter, 603896 (3) |EIF2B2|606454|14q24 Leukoencephalopathy with vanishing white matter, 603896 (3) |EIF2B5, LVWM, CACH|603945|3q27 Leukotriene C4 synthase deficiency (1) |LTC4S|246530|5q35 Leydig cell adenoma, with precocious puberty (3) |LHCGR|152790|2p21 Lhermitte-Duclos syndrome (3) |PTEN, MMAC1|601728|10q23.31 Li Fraumeni syndrome, 151623 (3) |CDKN2A, MTS1, P16, MLM, CMM2|600160|9p21 Li-Fraumeni syndrome, 151623 (3) |CHEK2, RAD53, CHK2, CDS1|604373|22q12.1 Li-Fraumeni syndrome, 151623 (3) |TP53, P53|191170|17p13.1 Liddle syndrome, 177200 (3) |SCNN1B|600760|16p13-p12 Liddle syndrome, 177200 (3) |SCNN1G, PHA1|600761|16p13-p12 Limb-mammary syndrome (2) |LMS|603543|3q27 Lipoamide dehydrogenase deficiency (3) |DLD, LAD, PHE3|246900|7q31-q32 Lipodystrophy, familial partial, 151660 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A|150330|1q21.2 Lipoid adrenal hyperplasia, 201710 (3) |STAR|600617|8p11.2 Lipoid proteinosis, 247100 (3) |ECM1|602201|1q21 Lipoma (1) (?) |HMGIY|600701|6p21 Lipoma (3) |HMGIC, BABL, LIPO|600698|12q15 Lipoma (3) |LPP|600700|3q28 Lipoma, sporadic (3) |MEN1|131100|11q13 Lipomatosis, mutiple, 151900 (2) (?) |HMGIC, BABL, LIPO|600698|12q15 Lipoprotein lipase deficiency (3) |LPL, LIPD|238600|8p22 Liposarcoma (1) |LPSA, D19S381E|164953|19p13.2-q13.3 Lissencephaly syndrome, Norman-Roberts type, 257320 (3) |RELN, RL|600514|7q22 Lissencephaly, X-linked, 300067 (3) |DCX, DBCN, LISX|300121|Xq22.3-q23 Lissencephaly-1 (3) |PAFAH1B1, LIS1|601545|17p13.3 Long QT syndrome-1 (3) |KCNQ1, KCNA9, LQT1, KVLQT1|192500|11p15.5 Long QT syndrome-2 (3) |KCNH2, LQT2, HERG|152427|7q35-q36 Long QT syndrome-3, 603830 (3) |SCN5A, LQT3, IVF, HB1|600163|3p21 Long QT syndrome-4 with sinus bradycardia (2) |LQT4|600919|4q25-q27 Long QT syndrome-5 (3) |KCNE1, JLNS, LQT5|176261|21q22.1-q22.2 Long QT syndrome-6 (3) |KCNE2, MIRP1|603796|21q22.1 Lowe syndrome (3) |OCRL, LOCR, OCRL1|309000|Xq26.1 Lung cancer, 211980 (1) |DLEC1, DLC1|604050|3p22-p21.3 Lung cancer, 211980 (3) |PPP2R1B|603113|11q22-q24 Lung cancer, 211980 (3) |SLC22A1L, BWSCR1A, IMPT1|602631|11p15.5 Lung cancer, small cell (3) |SSTR2|182452|17q24 Lymphangioleiomyomatosis, 606690 (3) |TSC1, LAM|605284|9q34 Lymphangioleiomyomatosis, somatic, 606690 (3) |TSC2, LAM|191092|16p13.3 Lymphedema, hereditary I, 153100 (3) |FLT4, VEGFR3, PCL|136352|5q35.3 Lymphedema-distichiasis syndrome, 153400 (3) |FOXC2, FKHL14, MFH1|602402|16q24.3 Lymphocytic leukemia, acute T-cell (3) |RAP1GDS1|179502|4q21-q25 Lymphoma, B-cell (2) |BCL6|109565|3q27 Lymphoma, B-cell non-Hodgkin, somatic (3) |ATM, ATA, AT1|208900|11q22.3 Lymphoma, MALT (3) |BCL10|603517|1p22 Lymphoma, diffuse large B-cell (2) |IL21R|605383|16p11 Lymphoma, diffuse large cell (3) |BCL8|601889|15q11-q13 Lymphoma, follicular (3) |BCL10|603517|1p22 Lymphoma, mantle cell (3) |ATM, ATA, AT1|208900|11q22.3 Lymphoma, non-Hodgkin (3) |RAD54B|604289|8q21.3-q22 Lymphoma, non-Hodgkin (3) |RAD54L, HR54, HRAD54|603615|1p32 Lymphoma, progression of (3) |FCGR2B, CD32|604590|1q22 Lymphoma, somatic (3) |MAD1L1, TXBP181|602686|7p22 Lymphoma/leukemia, B-cell, variant (1) |FVT1|136440|18q21.3 Lymphoproliferative syndrome, X-linked (3) |SH2D1A, LYP, IMD5, XLP, XLPD|308240|Xq25 Lynch cancer family syndrome II (2) (?) |LCFS2|114400|18q11-q12 Lysinuric protein intolerance, 222700 (3) |SLC7A7, LPI|603593|14q11.2 Lysosomal acid phosphatase deficiency (1) (?) |ACP2|171650|11p12-p11 MALT lymphoma (3) |MALT1, MLT|604860|18q21 MASA syndrome, 303350 (3) |L1CAM, CAML1, HSAS1|308840|Xq28 MASS syndrome, 604308 (3) |FBN1, MFS1|134797|15q21.1 MEHMO syndrome (2) |MEHMO|300148|Xp22.13-p21.1 MHC class II deficiency, complementation group A, 209920 (3) |MHC2TA, C2TA|600005|16p13 MHC class II deficiency, complementation group B, 209920 (3) |RFXANK|603200|19p12 MHC class II deficiency, complementation group C, 209920 (3) |RFX5|601863|1q21.1-q21.3 MODY, one form, 125850 (3) Hyperproinsulinemia, familial (3) |INS|176730|11p15.5 MODY, type I, 125850 (3) |HNF4A, TCF14, MODY1|600281|20q12-q13.1 MODY, type II, 125851 (3) |GCK|138079|7p15-p13 MODY, type III, 600496 (3) |TCF1, HNF1A, MODY3|142410|12q24.2 MODY, type IV (3) |IPF1|600733|13q12.1 MODY, type V, 604284 (3) |TCF2, HNF2|189907|17cen-q21.3 MODY5 with nephron agenesis (3) |TCF2, HNF2|189907|17cen-q21.3 MODY5 with non-diabetic renal disease and Mullerian aplasia (3) |TCF2, HNF2|189907|17cen-q21.3 Machado-Joseph disease, 109150 (3) |MJD, SCA3, ATX3|607047|14q24.3-q31 Macrocytic anemia, refractory, of 5q- syndrome, 153550 (3) |IRF1, MAR|147575|5q31.1 Macular corneal dystrophy, 217800 (3) |CHST6, MCDC1|605294|16q22 Macular degeneration, age-related, 1 (2) |ARMD1|603075|1q25-q31 Macular dystrophy (3) |RDS, RP7|179605|6p21.1-cen Macular dystrophy, North Carolina type (2) |MCDR1|136550|6q14-q16.2 Macular dystrophy, age-related, 2, 153800 (3) |ABCA4, ABCR, STGD1, FFM, RP19|601691|1p21-p13 Macular dystrophy, atypical vitelliform (2) |VMD1|153840|8q24 Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110 (3) |ELOVL4, ADMD, STGD2, STGD3|605512|6q14 Macular dystrophy, dominant cystoid (2) |MDDC|153880|7p21-p15 Macular dystrophy, vitelliform (3) |RDS, RP7|179605|6p21.1-cen Macular dystrophy, vitelliform type (3) |VMD2|153700|11q13 Male germ cell tumor (2) |MGCT|273300|12q22 Male infertility (1) (?) |UBE2B, RAD6B|179095|5q23-q31 Male infertility due to acrosin deficiency (2) (?) |ACR|102480|22q13-qter Male infertility due to spermatogenic failure (1) |AZFC|400024|Yq Male infertility, familial (1) (?) |FSHB|136530|11p13 Male pseudohermaphroditism due to defective LH (1) (?) |LHB|152780|19q13.32 Malignant fibrous histiocytoma (2) |MFHAS1, MASL1|605352|8p23.1 Malignant melanoma, cutaneous (2) |CMM, MLM, DNS|155600|1p36 Malignant melanoma, somatic (3) |PTEN, MMAC1|601728|10q23.31 Malignant mesothelioma, sporadic (3) |NF2|101000|22q12.2 Malonyl-CoA decarboxylase deficiency, 248360 (3) |MLYCD, MCD|606761|16q24 Manic-depressive illness, X-linked (2) (?) |MAFD2, MDX|309200|Xq28 Mannosidosis, alpha-, types I and II (3) |MAN2B1, MANB|248500|19cen-q12 Mannosidosis, beta- (3) |MANBA, MANB1|248510|4q22-q25 Maple syrup urine disease, type II (3) |DBT, BCATE2|248610|1p31 Maple syrup urine disease, type Ia (3) |BCKDHA, MSUD1|248600|19q13.1-q13.2 Maple syrup urine disease, type Ib (3) |BCKDHB, E1B|248611|6p22-p21 Marfan syndrome, 154700 (3) |FBN1, MFS1|134797|15q21.1 Marfan syndrome, atypical (3) |COL1A2|120160|7q22.1 Marfan-like connective tissue disorder (2) |MFS2|154705|3p25-p24.2 Maroteaux-Lamy syndrome, several forms (3) |ARSB|253200|5q11-q13 Marshall syndrome, 154780 (3) |COL11A1, STL2|120280|1p21 Mast cell leukemia (3) |KIT, PBT|164920|4q12 Mastocytosis with associated hematologic disorder (3) |KIT, PBT|164920|4q12 May-Hegglin anomaly, 155100 (3) |MYH9, MHA, FTNS, DFNA17|160775|22q11.2 McArdle disease (3) |PYGM|232600|11q13 McCune-Albright syndrome, 174800 (3) |GNAS, GNAS1, GPSA, POH|139320|20q13.2 McKusick-Kaufman syndrome, 236700 (3) |MKKS, HMCS, KMS, MKS, BBS6|604896|20p12 McLeod phenotype (3) |XK|314850|Xp21.2-p21.1 Meckel syndrome, type 1 (2) |MKS1, MKS|249000|17q22-q23 Meckel syndrome, type 2 (2) |MKS2|603194|11q13 Medullary cystic kidney disease 1 (2) |MCKD1|174000|1q21 Medullary cystic kidney disease 2 (2) |MCKD2, ADMCKD2|603860|16p12 Medullary thyroid carcinoma, 155240 (3) |RET, MEN2A|164761|10q11.2 Medullary thyroid carcinoma, familial, 155240 (3) |NTRK1, TRKA, MTC|191315|1q21-q22 Medulloblastoma, 155255 (2) |DMBT1|601969|10q25.3-q26.1 Medulloblastoma, 155255 (3) |PTCH2|603673|1p32 Medulloblastoma, desmoplastic, 155255 (3) |SUFU, SUFUXL, SUFUH|607035|10q24-q25 Meesmann corneal dystrophy, 122100 (3) |KRT12|601687|17q12 Meesmann corneal dystrophy, 122100 (3) |KRT3|148043|12q13 Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210 (1) (?) |CHRNA3|118503|15q24 Megakaryoblastic leukemia, acute (2) |RBM15, SPEN, OTT|606077|1p13 Megakaryoblastic leukemia, acute (3) |MKL1, AMKL, MAL|606078|22q13 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) |MLC1, LVM, VL|605908|22qter Megaloblastic anemia-1, 261100 (3) |CUBN, IFCR, MGA1|602997|10p12.1 Megalocornea, X-linked (2) |MGC1, MGCN|309300|Xq21.3-q22 Melanoma (3) |CDK4, CMM3|123829|12q14 Melanoma and neural system tumor syndrome, 155755 (3) |CDKN2A, MTS1, P16, MLM, CMM2|600160|9p21 Melanoma, cutaneous malignant, 2, 155601 (3) |CDKN2A, MTS1, P16, MLM, CMM2|600160|9p21 Melanoma, desmoplastic neurotropic (2) |NF1, VRNF, WSS|162200|17q11.2 Meleda disease, 248300 (3) |SLURP1, MDM|606119|8qter Melkersson-Rosenthal syndrome (2) (?) |MROS|155900|9p11 Membranous glomerulonephritis, antenatal (1) |MME, CD10, CALLA, NEP|120520|3q21-q27 Membroproliferative glomerulonephritis (1) |HF1, CFH, HUS|134370|1q32 Meniere disease, 156000 (3) |COCH, DFNA9|603196|14q12-q13 Meningioma (2) |MGCR, MN1|156100|22q12.3-qter Meningioma (2) (?) |LARGE|603590|22q12.3-q13.1 Meningioma, NF2-related, sporadic (3) |NF2|101000|22q12.2 Meningioma, SIS-related (3) |PDGFB, SIS|190040|22q12.3-q13.1 Meningioma, radiation-induced, 156100 (2) |MNRI|606190|1p11 Menkes disease, 309400 (3) |ATP7A, MNK, MK, OHS|300011|Xq12-q13 Mental retardation in cri-du-chat syndrome, 123450 (2) |CTNND2, NPRAP|604275|5p15.2 Mental retardation syndrome, X-linked, Abidi type (2) |MRXSAB|300262|Xq13.2 Mental retardation syndrome, X-linked, Armfield type (2) |MRXSA|300261|Xq28 Mental retardation syndrome, X-linked, Cabezas type (2) |MRXSC|300354|Xq24-q25 Mental retardation syndrome, X-linked, Lubs type (2) |MRXSL|300260|Xq28 Mental retardation syndrome, X-linked, Siderius type (2) |MRXSSD|300263|Xp11.3-q21.3 Mental retardation with isolated growth hormone deficiency (2) |MRGH|300123|Xq24-q27.1 Mental retardation, Snyder-Robinson type (2) |SRS, MRSR|309583|Xp21 Mental retardation, X-linked 1, non-dysmorphic, 309530 (3) |IL1RAPL, MRX1, MRX21|300206|Xp22.1-p21.3 Mental retardation, X-linked 14 (2) |MRX14|300062|Xp11.3-q13.3 Mental retardation, X-linked 20 (2) |MRX20|300047|Xp11-q21 Mental retardation, X-linked 23, nonspecific (2) |MRX23|300046|Xq23-q24 Mental retardation, X-linked 29 (2) |MRX29|300077|Xp22.3-p21.3 Mental retardation, X-linked 30 (3) |PAK3|300142|Xq21.3-q24 Mental retardation, X-linked 9 (2) |MRX9|309549|Xp21-q13 Mental retardation, X-linked nonspecific (3) |TM4SF2, MXS1, A15|300096|Xq11 Mental retardation, X-linked nonspecific, 309541 (3) |GDI1, RABGD1A, MRX41, MRX48|300104|Xq28 Mental retardation, X-linked nonspecific, 42 (2) |MRX42|300372|Xq26 Mental retardation, X-linked nonspecific, 58 (2) |MRX58|300210|Xp22-q12 Mental retardation, X-linked nonspecific, type 19 (3) |RPS6KA3, RSK2, MRX19|300075|Xp22.2-p22.1 Mental retardation, X-linked nonspecific, type 46 (3) |ARHGEF6, MRX46, COOL2|300267|Xq26 Mental retardation, X-linked nonspecific, type 50 (2) |MRX50|300115|Xp11.3-p11.21 Mental retardation, X-linked nonspecific, with aphasia (2) (?) |MRXA|309545|Xp11 Mental retardation, X-linked, 60 (3) |OPHN1|300127|Xq12 Mental retardation, X-linked, FRAXE type (3) |FMR2, FRAXE, MRX2|309548|Xq28 Mental retardation, X-linked, FRAXF type (3) |FRAXF|300031|Xq28 Mental retardation, X-linked, Shashi type (2) |MRXS11, SMRXS|300238|Xq26-q27 Mental retardation, X-linked, South African type (2) |MRSA|300243|Xq24-q27.3 Mental retardation, X-linked, nonspecific (3) |MECP2, RTT, PPMX, MRX16|300005|Xq28 Mental retardation, X-linked, syndromic 7 (2) |MRXS7|300218|Xp11.3-q22 Mental retardation, X-linked, syndromic-2, with dysmorphism and cerebral atrophy (2) |PRS, MRXS2|309610|Xp11-q21 Mental retardation, X-linked, syndromic-3, with spastic diplegia (2) |SHS, MRXS3|309470|Xp11-q21.3 Mental retardation, X-linked, syndromic-4, with congenital contractures and low fingertip arches (2) |MCS, MRXS4|309605|Xq13-q22 Mental retardation, X-linked, syndromic-5, with Dandy-Walker malformation, basal ganglia disease, and seizures (2) |PGS, MRXS5|304340|Xq25-q27 Mental retardation, X-linked, syndromic-6, with gynecomastia and obesity (2) |WTS, MRXS6|309585|Xp21.1-q22 Mental retardation, X-linked, with progressive spasticity, 300279 (3) |MECP2, RTT, PPMX, MRX16|300005|Xq28 Mental retardation, X-linked, with short stature (2) |MRSS|300360|Xq24 Mental retardation, X-linked-49 (2) |MRX49|300114|Xp22.3 Mental retardation, X-linked-53 (2) |MRX53|300324|Xq22.2-q26 Mental retardation, X-linked-72 (2) |MRX72|300271|Xq28 Mental retardation, severe, with spasticity and tapetoretinal degeneration (2) |MRST|602685|15q24 Mental retardation-skeletal dysplasia (2) |MRSD, CHRS|309620|Xq28 Mephenytoin poor metabolizer (3) |CYP2C, CYP2C19|124020|10q24.1-q24.3 Mesangial sclerosis, isolated diffuse, 256370 (3) |WT1|194070|11p13 Mesomelic dysplasia, Kantaputra type (2) |MMDK, MDK|156232|2q24-q32 Mesothelioma (3) |BCL10|603517|1p22 Metachromatic leukodystrophy (3) |ARSA|250100|22q13.31-qter Metachromatic leukodystrophy due to deficiency of SAP-1 (3) |PSAP, SAP1|176801|10q22.1 Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3) |PTHR1, PTHR|168468|3p22-p21.1 Metaphyseal chondrodysplasia, Schmid type (3) |COL10A1|120110|6q21-q22.3 Methemoglobinemia due to cytochrome b5 deficiency (3) |CYB5|250790|18q23 Methemoglobinemia, type I (3) |DIA1|250800|22q13.31-qter Methemoglobinemia, type II (3) |DIA1|250800|22q13.31-qter Methemoglobinemias, alpha- (3) |HBA1|141800|16pter-p13.3 Methemoglobinemias, beta- (3) |HBB|141900|11p15.5 Methionine adenosyltransferase deficiency, autosomal recessive (3) |MAT1A, MATA1, SAMS1|250850|10q22 Methylcobalamin deficiency, cbl G type (3) |MTR|156570|1q43 Methylmalonate semialdehyde dehydrogenase deficiency (3) |ALDH6A1, MMSDH|603178|14q24.3 Methylmalonicaciduria, mutase deficiency type (3) |MUT, MCM|251000|6p21 Mevalonicaciduria (3) |MVK, MVLK|251170|12q24 Microcephaly, autosomal recessive 1 (2) |MCPH1|251200|8pter-p22 Microcephaly, autosomal recessive 2 (2) |MCPH2|604317|19q13.1-q13.2 Microcephaly, primary autosomal recessive, 3 (2) |MCPH3|604804|9q34 Microcephaly, primary autosomal recessive, 4 (2) |MCPH4|604321|15q15-q21 Microcephaly, primary autosomal recessive, 5 (2) |MCPH5|605481|1q31 Microcoria, congenital (2) |MCOR|156600|13q31-q32 Microhydranencephaly (2) |MHAC|605013|16p13.3-p12.1 Micropenis (3) |LHCGR|152790|2p21 Microphthalmia with linear skin defects (2) |MLS, MIDAS|309801|Xp22.31 Microphthalmia, autosomal recessive (2) |MCOP|251600|14q32 Microphthalmia, cataracts, and iris abnormalities (3) |CHX10, HOX10|142993|14q24.3 Microphthalmia, colobomatous (2) |MOPCB|300345|Chr.X Microphthalmia, dermal aplasia, and sclerocornea (2) |MLS, MIDAS|309801|Xp22.31 Migraine, familial hemiplegic, 2 (2) |MHP2|602481|1q21-q23 Miller-Dieker lissencephaly syndrome (2) |MDCR, MDS|247200|17p13.3 Mirror-image polydactyly, 135750 (1) |MIPOL1|606850|14q13 Mitochondrial complex I deficiency (3) |NDUFS1|157655|2q33-q34 Mitral valve prolapse, familial (2) |MVP, PMV|157700|16p12.1-p11.2 Mixed polyposis syndrome, hereditary (2) |MPSH|601228|6q Miyoshi myopathy, 254130 (3) |DYSF, LGMD2B|603009|2p13.3-p13.1 Moebius syndrome (2) (?) |MBS, MBS1|157900|13q12.2-q13 Moebius syndrome-2 (2) |MBS2|601471|3q21-q22 Moebius syndrome-3 (2) |MBS3|604185|10q21.3-q22.1 Mohr-Tranebjaerg syndrome, 304700 (3) |TIMM8A, DFN1, DDP, MTS, DDP1|300356|Xq22 Molybdenum cofactor deficiency, type A, 252150 (3) |MOCS1, MOCOD|603707|6p21.3 Molybdenum cofactor deficiency, type B, 252150 (3) |MOCS2, MPTS|603708|5q11 Molybdenum cofactor deficiency, type C, 252150 (3) |GPH, KIAA1385, GEPH|603930|14q24 Monilethrix, 158000 (3) |KRTHB1, HB1|602153|12q13 Monilethrix, 158000 (3) |KRTHB6, HB6|601928|12q13 Monocyte carboxylesterase deficiency (1) (?) |CES1, SES1|114835|16q13-q22.1 Motor neuronopathy, distal hereditary, with vocal cord paralysis (2) |DHMNVP, HMN7|158580|2q14 Moyamoya disease (2) |MYMY|252350|3p26-p24.2 Muckle-Wells syndrome (2) |MWS|191900|1q44 Mucolipidosis II (1) |GNPTA|252500|4q21-q23 Mucolipidosis III (1) |GNPTA|252500|4q21-q23 Mucolipidosis IV, 252650 (3) |MCOLN1, ML4|605248|19p13.3-p13.2 Mucopolysaccharidosis II (3) |IDS, MPS2, SIDS|309900|Xq28 Mucopolysaccharidosis IVA (3) |GALNS, MPS4A|253000|16q24.3 Mucopolysaccharidosis IVB (3) |GLB1|230500|3p21.33 Mucopolysaccharidosis Ih (3) |IDUA, IDA|252800|4p16.3 Mucopolysaccharidosis Ih/s (3) |IDUA, IDA|252800|4p16.3 Mucopolysaccharidosis Is (3) |IDUA, IDA|252800|4p16.3 Mucopolysaccharidosis VII (3) |GUSB|253220|7q21.11 Mucopolysaccharidosis type IX, 601492 (3) |HYAL1|607071|3p21.3-p21.2 Muencke syndrome, 602849 (3) |FGFR3, ACH|134934|4p16.3 Muir-Torre syndrome, 158320 (3) |MLH1, COCA2, HNPCC2|120436|3p21.3 Muir-Torre syndrome, 158320 (3) |MSH2, COCA1, FCC1, HNPCC1|120435|2p22-p21 Mulibrey nanism, 253250 (3) |TRIM37, MUL, KIAA0898|605073|17q22-q23 Multiple carboxylase deficiency, biotin-responsive (3) |HLCS, HCS|253270|21q22.1 Multiple cutaneous and uterine leiomyomata,, 150800 (3) |FH|136850|1q42.1 Multiple endocrine neoplasia I (3) |MEN1|131100|11q13 Multiple endocrine neoplasia IIA, 171400 (3) |RET, MEN2A|164761|10q11.2 Multiple endocrine neoplasia IIB, 162300 (3) |RET, MEN2A|164761|10q11.2 Multiple malignancy syndrome (3) |TP53, P53|191170|17p13.1 Multiple mitochondrial dysfunctions syndrome (2) |MMDFS|605711|2p14-p13 Multiple myeloma (3) |IRF4, LSIRF|601900|6p25-p23 Multiple myeloma, 254500 (2) |CCND1, PRAD1|168461|11q13 Muscle glycogenosis (3) |PHKA1|311870|Xq13 Muscle-eye-brain disease, 253280 (3) |POMGNT1, MEB|606822|1p34-p33 Muscular dystorphy, congenital, 1C (3) |FKRP, MDC1C|606596|19q13.3 Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3) |PLEC1, PLTN|601282|8q24 Muscular dystrophy with rimmed vacuoles (2) |MDRV|601846|19p13.3 Muscular dystrophy, Duchenne-like, type 2 (3) |SGCA, ADL, DAG2, LGMD2D|600119|17q12-q21.33 Muscular dystrophy, Fukuyama congenital (3) |FCMD|253800|9q31 Muscular dystrophy, congenital merosin-deficient (3) |LAMA2, LAMM|156225|6q22-q23 Muscular dystrophy, congenital, 1B (2) |MDC1B|604801|1q42 Muscular dystrophy, limb-girdle, type 1A, 159000 (3) |TTID, MYOT|604103|5q31 Muscular dystrophy, limb-girdle, type 1B (2) |LGMD1B|159001|1q11-q21 Muscular dystrophy, limb-girdle, type 1B, 159001 (3) |LMNA, LMN1, EMD2, FPLD, CMD1A|150330|1q21.2 Muscular dystrophy, limb-girdle, type 1D (2) |LGMD1D|603511|7q Muscular dystrophy, limb-girdle, type 2A, 253600 (3) |CAPN3, CANP3|114240|15q15.1-q21.1 Muscular dystrophy, limb-girdle, type 2B, 253601 (3) |DYSF, LGMD2B|603009|2p13.3-p13.1 Muscular dystrophy, limb-girdle, type 2C (3) |SGCG, LGMD2C, DMDA1, SCG3|253700|13q12 Muscular dystrophy, limb-girdle, type 2D (3) |SGCA, ADL, DAG2, LGMD2D|600119|17q12-q21.33 Muscular dystrophy, limb-girdle, type 2E, 604286 (3) |SGCB, LGMD2E|600900|4q12 Muscular dystrophy, limb-girdle, type 2F, 601287 (3) |SGCD, SGD, LGMD2F, CMD1L|601411|5q33 Muscular dystrophy, limb-girdle, type 2G, 601954 (3) |TCAP, LGMD2G|604488|17q12 Muscular dystrophy, limb-girdle, type 2H, 254110 (3) |TRIM32, HT2A, LGMD2H|602290|9q31-q34.1 Muscular dystrophy, limb-girdle, type IC (3) |CAV3, LGMD1C|601253|3p25 Muscular dystrophy, rigid spine, 1, 602771 (3) |SEPN1, SELN, RSMD1|606210|1p36-p35 Myasthenia gravis with thymus hyperplasia (2) |MYAS1|607085|6p21.3 Myasthenia gravis, familial infantile, 1, 254210 (3) |FIMG1, FIMG, MGI|605809|17p13 Myasthenia gravis, familial infantile, 2, 254210 (3) |CHAT, FIMG2|118490|10q11.2 Myasthenia gravis, neonatal transient (2) |CHRNG, ACHRG|100730|2q33-q34 Myasthenia syndrome, congenital (3) |RAPSN|601592|11p11.2-p11.1 Myasthenic syndrome, slow-channel congenital, 601462 (3) |CHRNA1|100690|2q24-q32 Myasthenic syndrome, slow-channel congenital, 601462 (3) |CHRNB1, ACHRB|100710|17p12-p11 Myasthenic syndrome, slow-channel congenital, 601462 (3) |CHRNE|100725|Chr.17 Mycobacterial infection, atypical, familial disseminated, 209950 (3) |IFNGR1|107470|6q23-q24 Mycobacterial infection, atypical, familial disseminated, 209950 (3) |IFNGR2, IFNGT1, IFGR2|147569|21q22.1-q22.2 Mycobacterial infection, atypical, familial disseminated, 209950 (3) |STAT1|600555|2q32.2-q32.3 Myelodysplasia syndrome-1 (3) |MDS1|600049|3q26 Myelodysplastic syndrome (3) |FACL6, ACS2|604443|5q31 Myelodysplastic syndrome, preleukemic (3) |IRF1, MAR|147575|5q31.1 Myelogenous leukemia, acute (3) |FACL6, ACS2|604443|5q31 Myelogenous leukemia, acute (3) |IRF1, MAR|147575|5q31.1 Myeloid leukemia, acute, M4Eo subtype (3) |CBFB|121360|16q22 Myeloid malignancy, predisposition to (3) |CSF1R, FMS|164770|5q33.2-q33.3 Myeloperoxidase deficiency, 254600 (3) |MPO|606989|17q23.1 Myeloproliferative disorder (2) |FOP|605392|6q27 Myoadenylate deaminase deficiency (3) |AMPD1|102770|1p21-p13 Myoclonic epilepsy, X-linked, with mental retardation and spasticity (3) |ARX, ISSX, PRTS, MRXS1|300382|Xp22.3-p21.1 Myoglobinuria/hemolysis due to PGK deficiency (3) |PGK1, PGKA|311800|Xq13 Myokymia with neonatal epilepsy, 606437 (3) |KCNQ2, EBN1|602235|20q13.3 Myoneurogastrointestinal encephalomyopathy syndrome, 603041 (3) |ECGF1|131222|22q13.32-qter Myopathy due to CPT II deficiency, 255110 (3) |CPT2|600650|1p32 Myopathy due to phosphoglycerate mutase deficiency (3) |PGAM2, PGAMM|261670|7p13-p12.3 Myopathy, X-linked, with excessive autophagy (2) |MEAX, XMEA|310440|Xq28 Myopathy, actin (3) |ACTA1, ASMA, NEM2, NEM1|102610|1q42.1 Myopathy, cardioskeletal, desmin-related, with cataract, 601419 (3) |CRYAB, CRYA2, CTPP2|123590|11q22.3-q23.1 Myopathy, centronuclear, 160150 (3) |MYF6|159991|12q21 Myopathy, congenital (3) |ITGA7|600536|12q13 Myopathy, desmin-related, cardioskeletal, 601419 (3) |DES, CMD1I|125660|2q35 Myopathy, distal (2) |MPD1|160500|14q Myopathy, distal (2) |MPD2|606070|5q Myopathy, distal, with anterior tibial onset, 606768 (3) |DYSF, LGMD2B|603009|2p13.3-p13.1 Myopathy, nemaline, 161800, 256030 (3) |ACTA1, ASMA, NEM2, NEM1|102610|1q42.1 Myopathy, proximal, with early respiratory muscle involvement (2) |MPRM|603689|2q24-q31 Myopia-1 (2) |MYP1, BED|310460|Xq28 Myopia-2 (2) |MYP2|160700|18p11.31 Myopia-3 (2) |MYP3|603221|12q21-q23 Myotonia congenita, atypical, acetazolamide-responsive, 170500 (3) |SCN4A, HYPP, NAC1A|603967|17q23.1-q25.3 Myotonia congenita, dominant, 160800 (3) |CLCN1|118425|7q35 Myotonia congenita, recessive, 255700 (3) |CLCN1|118425|7q35 Myotonia levior, recessive (3) |CLCN1|118425|7q35 Myotonic dystrophy, 160900 (3) |DMPK, DM, DMK|605377|19q13.2-q13.3 Myotonic dystrophy, type 2, 602668 (3) |ZNF9, CNBP1, DM2|116955|3q13.3-q24 Myotonic myopathy, proximal (2) |PROMM|600109|3q Myotubular myopathy, X-linked (3) |MTM1, MTMX|310400|Xq28 Myxoid liposarcoma (3) |DDIT3, GADD153, CHOP10|126337|12q13.1-q13.2 Myxoma, intracardiac, 255960 (3) |PRKAR1A, TSE1, CNC1, CAR|188830|17q23-q24 N syndrome, 310465 (1) (?) |POLA|312040|Xp22.3-p21.1 NAGA deficiency, mild (3) |NAGA|104170|22q11 Nail dysplasia, isolated congenital (2) |NDIC|605779|17p13 Nail-patella syndrome with open-angle glaucoma, 137750 (3) |LMX1B, NPS1|602575|9q34.1 Nail-patella syndrome, 161200 (3) |LMX1B, NPS1|602575|9q34.1 Nance-Horan syndrome (2) |NHS|302350|Xp22.3-p21.1 Nanoka myopathy (2) |DMRV, NM|605820|9p13 Nanophthalmos 2 (2) |NNO2|605738|15q12-q15 Nanophthalmos-1 (2) |NNO1|600165|11p Narcolepsy, 161400 (2) |NRCLP|605841|4p13-q21 Narcolepsy, 161400 (3) |HCRT, OX|602358|17q21 Nasopharyngeal carcinoma, 161550 (3) |TP53, P53|191170|17p13.1 Naxos disease, 601214 (3) |JUP, DP3, PDGB|173325|17q21 Nemaline myopathy 1, autosomal dominant, 161800 (3) |TPM3, NEM1|191030|1q22-q23 Nemaline myopathy 2, autosomal recessive, 256030 (3) |NEB|161650|2q22 Nemaline myopathy, Amish type, 605355 (3) |TNNT1, ANM|191041|19q13.4 Neonatal alloimmune thrombocytopenia (2) |ITGA2, CD49B, BR|192974|5q23-q31 Neonatal hyperparathyroidism, 239200 (3) |CASR, HHC1, PCAR1|601199|3q13.3-q21 Nephrolithiasis, type I, 310468 (3) |CLCN5, CLCK2, NPHL2, DENTS|300008|Xp11.22 Nephrolithiasis, uric acid (2) |UAN|605990|10q21-q22 Nephronophthisis, adolescent (2) |NPHP3, NPH3|604387|3q22 Nephronophthisis, infantile (2) |NPHP2, NPH2|602088|9q22-q31 Nephronophthisis, juvenile (3) |NPHP1, NPH1|256100|2q13 Nephropathy, IgA type (2) |IGAN|161950|6q22-q23 Nephropathy, chronic hypocomplementemic (3) |HF1, CFH, HUS|134370|1q32 Nephropathy-hypertension (2) |RFH1, AORF|161900|1q21 Nephrosis-1, congenital, Finnish type, 256300 (3) |NPHS1, NPHN|602716|19q13.1 Nephrotic syndrome, idiopathic, steroid-resistant (2) |SRN1|600995|1q25-q31 Nephrotic syndrome, steroid-resistant, 600995 (3) |PDCN, NPHS2, SRN1|604766|1q25-q31 Netherton syndrome, 256500 (3) |SPINK5, LEKTI|605010|5q32 Neuralgic amyotrophy with predilection for brachial plexus (2) |NAPB|162100|17q25 Neuroblastoma (1) (?) |TP73|601990|1p36 Neuroblastoma (2) |NB, NBS|256700|1p36.3-p36.2 Neuroblastoma (3) |NME1, NM23|156490|17q21.3 Neurodegeneration with brain iron accumulation (2) |NBIA1|234200|20p13-p12.3 Neuroepithelioma (2) |EWSR1, EWS|133450|22q12 Neurofibromatosis, type 1 (3) |NF1, VRNF, WSS|162200|17q11.2 Neurofibromatosis, type 2 (3) |NF2|101000|22q12.2 Neurofibrosarcoma (3) |MXI1|600020|10q25 Neurolemmomatosis (3) |NF2|101000|22q12.2 Neuropathy, axonal, with vocal cord paresis, autosomal recessive, 214400 (3) |GDAP1, CMT4A|606598|8q13-q21.1 Neuropathy, congenital hypomyelinating, 1, 605253 (3) |EGR2, KROX20|129010|10q21.1-q22.1 Neuropathy, distal hereditary motor, Jerash type (2) |HMNJ, MNDJ|605726|9p21.1-p12 Neuropathy, hereditary motor and sensory, Lom type, 601455 (3) |NDRG1|605262|8q24.3 Neuropathy, hereditary motor and sensory, Okinawa type (2) |HMSNO, HMSNP|604484|3q13.1 Neuropathy, hereditary sensory and autonomic, type 1, 162400 (3) |SPTLC1, LBC1, SPT1, HSN1, HSAN|605712|9q22.1-q22.3 Neuropathy, motor and sensory, Russe type (2) |NMSR, HMSNR|605285|10q23.2 Neuropathy, paraneoplastic sensory (1) |ELAVL4, HUD, PNEM|168360|1p34 Neuropathy, recurrent, with pressure palsies, 162500 (3) |PMP22, CMT1A|601097|17p11.2 Neutropenia, alloimmune neonatal (3) |FCGR3A, CD16, IGFR3|146740|1q23 Neutropenia, congenital, 202700 (3) |ELA2|130130|19p13.3 Neutropenia, neonatal alloimmune (1) |LAG5|151450|Chr.4 Neutropenia, severe congenital, X-linked, 300299 (3) |WAS, IMD2, THC|300392|Xp11.23-p11.22 Neutrophil immunodeficiency syndrome (3) |RAC2|602049|22q12.3-q13.2 Newfoundland rod-cone dystrophy (3) |RLBP1|180090|15q26 Niemann-Pick disease, type A (3) |SMPD1, NPD|257200|11p15.4-p15.1 Niemann-Pick disease, type B (3) |SMPD1, NPD|257200|11p15.4-p15.1 Niemann-Pick disease, type C1 (3) |NPC1, NPC|257220|18q11-q12 Niemann-Pick disease, type D, 257250 (3) |NPC1, NPC|257220|18q11-q12 Niemann-pick disease, type C2 (3) |NPC2, HE1|601015|14q24.3 Night blindness, congenital stationary (3) |GNAT1|139330|3p21 Night blindness, congenital stationary, X-linked, type 2, 300071 (3) |CACNA1F, CSNB2|300110|Xp11.23 Night blindness, congenital stationary, type 1, 310500 (3) |CSNB1, NYX|300278|Xp11.4 Night blindness, congenital stationary, type 3, 163500 (3) |PDE6B, PDEB, CSNB3|180072|4p16.3 Night blindness, congenital stationery, rhodopsin-related (3) |RHO, RP4, OPN2|180380|3q21-q24 Nijmegen breakage syndrome, 251260 (3) |NBS1, NBS|602667|8q21 Noncompaction of left ventricular myocardium, isolated, 300183 (3) |TAZ, EFE2, BTHS, CMD3A|300394|Xq28 Nonepidermolytic palmoplantar keratoderma, 600962 (3) |KRT16|148067|17q12-q21 Nonsmall cell lung cancer (3) |IRF1, MAR|147575|5q31.1 Noonan syndrome 1, 163950 (3) |PTPN11, PTP2C, SHP2, NS1|176876|12q24.1 Norrie disease (3) |NDP, ND|310600|Xp11.4 Norum disease, 245900 (3) |LCAT|606967|16q22.1 Nucleoside phosphorylase deficiency, immunodeficiency due to (3) |NP|164050|14q13.1 Nystagmus 1, congenital (2) |NYS1|310700|Xq26-q27 Nystagmus-2, autosomal dominant (2) |NYS2, NYSA|164100|6p12 OSMED syndrome, 215150 (3) |COL11A2, STL3, DFNA13|120290|6p21.3 Obesity, adrenal insufficiency, and red hair (3) |POMC|176830|2p23.3 Obesity, autosomal dominant (3) |MC4R|155541|18q22 Obesity, mild, early-onset, 601665 (3) |NR0B2, SHP|604630|1p36.1 Obesity, morbid, with hypogonadism (3) |LEP, OB|164160|7q31.3 Obesity, morbid, with hypogonadism (3) |LEPR, OBR|601007|1p31 Obesity, severe (3) |SIM1|603128|6q16.3-q21 Obesity, severe, 601665 (3) |PPARG, PPARG1, PPARG2|601487|3p25 Obesity, severe, due to leptin deficiency (3) |LEP, OB|164160|7q31.3 Obestiy with impaired prohormone processing, 600955 (3) |PCSK1, NEC1, PC1, PC3|162150|5q15-q21 Occipital horn syndrome, 304150 (3) |ATP7A, MNK, MK, OHS|300011|Xq12-q13 Ocular albinism with sensorineural deafness (2) |OASD|300650|Xp22.3 Ocular albinism, Forsius-Eriksson type (2) |AIED, OA2|300600|Xp11.4-p11.23 Ocular albinism, Nettleship-Falls type (3) |OA1|300500|Xp22.3 Ocular albinism, autosomal recessive (2) (?) |OA3, OAR|203310|6q13-q15 Oculocutaneous albinism, type IV, 606574 (3) |MATP, AIM1|606202|5p Oculodentodigital dysplasia (2) |ODDD, SDTY3, ODOD|164200|6q22-q24 Oculodigitoesophagoduodenal syndrome (2) |ODED, MODED|164280|2p24-p23 Oculopharyngeal muscular dystorphy, 164300 (3) |PABPN1, PABP2, PAB2|602279|14q11.2-q13 Oculopharyngeal muscular dystrophy, autosomal recessive, 257950 (3) |PABPN1, PABP2, PAB2|602279|14q11.2-q13 Oguchi disease-1, 258100 (3) |SAG|181031|2q37.1 Oguchi disease-2, 258100 (3) |RHOK, RK, GRK1|180381|13q34 Oligodontia, 604625 (3) |PAX9|167416|14q12-q13 Omenn syndrome, 603554 (3) |RAG1|179615|11p13 Omenn syndrome, 603554 (3) |RAG2|179616|11p13 Opitz G syndrome, type I (3) |MID1, OGS1, BBBG1, FXY, OSX|300000|Xp22 Opitz G syndrome, type II (2) |OGS2, BBBG2, GBBB2|145410|22q11.2 Optic atrophy 1, 165500 (3) |OPA1, NTG, NPG|605290|3q28-q29 Optic atrophy, X-linked (2) |OPA2|311050|Xp11.4-p11.21 Optic atrophy-4 (2) |OPA4|605293|18q12.2-q12.3 Optic nerve coloboma with renal disease, 120330 (3) |PAX2|167409|10q24.3-q25.1 Oral-facial-digital syndrome 1, 311200 (3) |OFD1, CXorf5|300170|Xp22.3-p22.2 Ornithine transcarbamylase deficiency (3) |OTC|311250|Xp21.1 Orofacial cleft-1 (2) |OFC1, CL|119530|6p24.3 Orofacial cleft-2 (2) |OFC2|602966|2p13 Orofacial cleft-3 (2) |OFC3|600757|19q13 Oroticaciduria (3) |UMPS, OPRT|258900|3q13 Orthostatic hypotensive disorder of Streeten (2) |OHDS|143850|18q Orthostatic intolerance, 604715 (3) |SLC6A2, NAT1, NET1|163970|16q12.2 Osseous dysplasia, digital, with facial pibmentary defects and multiple frenula (2) |ODPF|300244|Xq27.3-q28 Osseous heteroplasia, progressive, 166350 (3) |GNAS, GNAS1, GPSA, POH|139320|20q13.2 Ossification of posterior longitudinal ligament of spine, 602475 (3) |ENPP1, PDNP1, NPPS, M6S1, PCA1|173335|6q22-q23 Osteoarthritis of distal interphalangeal joints (2) (?) |OADIP, DIPOA|140600|2q12-q13 Osteoarthrosis, 165720 (3) |COL2A1|120140|12q13.11-q13.2 Osteogenesis imperfecta, 3 clinical forms, 166200, 166210, 259420 (3) |COL1A2|120160|7q22.1 Osteogenesis imperfecta, type I, 166200 (3) |COL1A1|120150|17q21.31-q22 Osteogenesis imperfecta, type II, 166210 (3) |COL1A1|120150|17q2