# Copyright (c) 1966-2022 Johns Hopkins University. Use of this file adheres to the terms specified at https://omim.org/help/agreement
# Generated: 2022-05-10
# See end of file for additional documentation on specific fields
# Phenotype	Gene Symbols	MIM Number	Cyto Location
17,20-lyase deficiency, isolated, 202110 (3)	CYP17A1, CYP17, P450C17	609300	10q24.32
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)	CYP17A1, CYP17, P450C17	609300	10q24.32
2,4-dienoyl-CoA reductase deficiency, 616034 (3)	NADK2, C5orf33, DECRD	615787	5p13.2
2-methylbutyrylglycinuria, 610006 (3)	ACADSB, SBCAD	600301	10q26.13
3-M syndrome 1, 273750 (3)	CUL7, 3M1	609577	6p21.1
3-M syndrome 2, 612921 (3)	OBSL1, KIAA0657, 3M2	610991	2q35
3-M syndrome 3, 614205 (3)	CCDC8, 3M3	614145	19q13.32
3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)	MCCC1, MCCA	609010	3q27.1
3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)	MCCC2, MCCB	609014	5q13.2
3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)	HADHSC, SCHAD, HHF4	601609	4q25
3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)	HIBCH	610690	2q32.2
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)	SERAC1, MEGDEL	614725	6q25.3
3-methylglutaconic aciduria, type I, 250950 (3)	AUH	600529	9q22.31
3-methylglutaconic aciduria, type III, 258501 (3)	OPA3, MGA3	606580	19q13.32
3-methylglutaconic aciduria, type IX, 617698 (3)	TIMM50, TIM50, MGCA9	607381	19q13.2
3-methylglutaconic aciduria, type V, 610198 (3)	DNAJC19, TIM14	608977	3q26.33
3-methylglutaconic aciduria, type VIIA, autosomal dominant, 619835 (3)	CLPB, SKD3, MGCA7, MEGCANN, SCN9, MGCA7A	616254	11q13.4
3-methylglutaconic aciduria, type VIIB, autosomal recessive, 616271 (3)	CLPB, SKD3, MGCA7, MEGCANN, SCN9, MGCA7A	616254	11q13.4
3-methylglutaconic aciduria, type VIII, 617248 (3)	HTRA2, OMI, PARK13, PRSS25, MGCA8	606441	2p13.1
3MC syndrome 1, 257920 (3)	MASP1, CRARF, 3MC1	600521	3q27.3
3MC syndrome 2, 265050 (3)	COLEC11, CLK1, 3MC2	612502	2p25.3
3MC syndrome 3, 248340 (3)	COLEC10, CLL1, 3MC3	607620	8q24.12
3p- syndrome (4)	DEL3pterp25, C3DELpterp25	613792	3pter-p25
46, XX sex reversal 4, 617480 (3)	NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8, SRXX4	184757	9q33.3
46, XY sex reversal 11, 273250 (3)	DHX37, KIAA1517, NEDBAVC, SRXY11	617362	12q24.31
46,XX sex reversal 5, 618901 (3)	NR2F2, TFCOUP2, ARP1, CHTD4, SRXX5	107773	15q26.2
46XX sex reversal 1, 400045 (4)	SRY, TDF, TDY, SRXX1, SRXY1	480000	Yp11.2
46XX sex reversal 2 (4)	SRXX2, DUP17q24.3	278850	17q24.3-q25.1
46XX sex reversal 3 (4)	SRXX3	300833	Xq26.3
46XY gonadal dysgenesis with minifascicular neuropathy, 607080 (3)	DHH, SRXY7, GDMN	605423	12q13.12
46XY sex reversal 1, 400044 (3)	SRY, TDF, TDY, SRXX1, SRXY1	480000	Yp11.2
46XY sex reversal 10 (4)	SRXY10	616425	17q24
46XY sex reversal 2, dosage-sensitive, 300018 (3)	NR0B1, DAX1, AHC, AHX, SRXY2	300473	Xp21.2
46XY sex reversal 3, 612965 (3)	NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8, SRXX4	184757	9q33.3
46XY sex reversal 4 (4)	DEL9p24.3, C9DELp24.3, SRXY4	154230	9p24.3
46XY sex reversal 6, 613762 (3)	MAP3K1, MEKK1, MEKK, SRXY6	600982	5q11.2
46XY sex reversal 7, 233420 (3)	DHH, SRXY7, GDMN	605423	12q13.12
46XY sex reversal 8, 614279 (3)	AKR1C2, DDH2, DD2, HAKRD, SRXY8	600450	10p15.1
46XY sex reversal 9, 616067 (3)	ZFPM2, FOG2, DIH3, SRXY9	603693	8q23.1
5-fluorouracil toxicity, 274270 (3)	DPYD, DPD	612779	1p21.3
5-oxoprolinase deficiency, 260005 (3)	OPLAH, OPLAHD	614243	8q24.3
?46XY sex reversal 5, 613080 (3)	CBX2, M33, SRXY5	602770	17q25.3
?ABCD syndrome, 600501 (3)	EDNRB, HSCR2, ABCDS, WS4A	131244	13q22.3
?ACAT2 deficiency, 614055 (1)	ACAT2	100678	6q25.3
?Abnormal hair, joint laxity, and developmental delay, 261990 (3)	HEPHL1, ZP, HJDD	618455	11q21
?Abruzzo-Erickson syndrome, 302905 (3)	TBX22, CPX, ABERS	300307	Xq21.1
?Acne inversa, familial, 3, 613737 (3)	PSEN1, AD3, ACNINV3	104311	14q24.2
?Acromesomelic dysplasia 2C, Hunter-Thompson type, 201250 (3)	GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B, DUPANS	601146	20q11.22
?Advanced sleep phase syndrome, familial, 1, 604348 (3)	PER2, FASPS1, KIAA0347	603426	2q37.3
?Advanced sleep phase syndrome, familial, 3, 616882 (3)	PER3, FASPS3	603427	1p36.23
?Agammaglobulinemia 4, 613502 (3)	BLNK, SLP65, AGM4	604515	10q24.1
?Agammaglobulinemia 5, 613506 (3)	LRRC8A, KIAA1437, AGM5	608360	9q34.11
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)	PIK3R1, GRB1, AGM7, SHORT, IMD36	171833	5q13.1
?Aicardi-Goutieres syndrome 8, 619486 (3)	LSM11, AGS8	617910	5q33.3
?Al-Gazali-Bakalinova syndrome, 607131 (3)	KIF7, HLS2, ACLS, JBTS12, AGBK	611254	15q26.1
?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3)	RBM28, ANES	612074	7q32.1
?Alopecia-intellectual disability syndrome 1, 203650 (3)	AHSG, APMR1	138680	3q27.3
?Amelogenesis imperfecta, type IE, X-linked 2 (2)	AI1E2, AIH3	301201	Xq22-q28
?Amelogenesis imperfecta, type IIIB, 617607 (3)	AMTN, AI3B	610912	4q13.3
?Amyloidosis, familial visceral, 105200 (3)	B2M, IMD43	109700	15q21.1
?Amyloidosis, primary localized cutaneous, 2, 613955 (3)	IL31RA, GLMR, GPL, PLCA2	609510	5q11.2
?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3)	SIGMAR1, SRBP, ALS16, DSMA2	601978	9p13.3
?Anal canal carcinoma (2)	ANC	105580	11q22-qter
?Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive, 619789 (3)	RCGAP1, MGCRACGAP, CYK4, CDAN3B	604980	12q13.12
?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3)	STEAP3, TSAP6, AHMIO2	609671	2q14.2
?Anemia, sideroblastic, 5, 619523 (3)	HSC20, HSCB, JAC1, SIDBA5	608142	22q12.1
?Anencephaly 1, 206500 (3)	TRIM36, RBCC728, ANPH1	609317	5q22.3
?Anencephaly 2, 619452 (3)	NUAK2, SNARK, ANPH2	608131	1q32.1
?Aneurysm, intracranial berry, 12, 618734 (3)	THSD1, TMTSP, ANIB12	616821	13q14.3
?Angioedema, hereditary, 5, 619361 (3)	ANGPT1, ANG1, HAE5	601667	8q23.1
?Angioedema, hereditary, 7, 619366 (3)	MYOF, FER1L3, HAE7	604603	10q23.33
?Angioedema, hereditary, 8, 619367 (3)	HS3ST6, 3OST6, HAE8	619210	16p13.3
?Anhidrosis, isolated, with normal sweat glands, 106190 (3)	ITPR2, ANHD	600144	12p11.23
?Aniridia 2, 617141 (3)	ELP4, PAX6NEB, AN2	606985	11p13
?Aniridia 3, 617142 (3)	TRIM44, AN3	612298	11p13
?Antiphospholipid syndrome, familial (2)	ATPLS	107320	6p21.3
?Aplasia cutis congenita, nonsyndromic, 107600 (3)	BMS1, BMS1L, KIAA0187, ACC	611448	10q11.21
?Arrhythmogenic right ventricular dysplasia 12, 611528 (3)	JUP, DP3, PDGB, ARVD12	173325	17q21.2
?Arthrogryposis multiplex congenita 2, neurogenic type, 208100 (3)	ERGIC1, ERGIC32, KIAA1181, AMC2	617946	5q35.1
?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)	NEK9, NERCC1, LCCS10, APUG, NC	609798	14q24.3
?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3)	DNAJC3, PRKRI, P58, ACPHD	601184	13q32.1
?Ataxia-telangiectasia-like disorder 2, 615919 (3)	PCNA, ATLD2	176740	20p12.3
?Atrial fibrillation 15, 615770 (3)	NUP155, KIAA0791, ATFB15	606694	5p13.2
?Atrial fibrillation, familial, 12, 614050 (3)	ABCC9, SUR2, CMD1O, ATFB12, CANTU, IDMYS	601439	12p12.1
?Atrial fibrillation, familial, 18, 617280 (3)	MYL4	160770	17q21.32
?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3)	CASP8, MCH5, ALPS2B	601763	2q33.1
?Avascular necrosis of femoral head, primary, 2, 617383 (3)	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3	605427	12q24.11
?Azoospermia, obstructive, with nephrolithiasis, 301060 (3)	CLDN2, OAZON	300520	Xq22.3
?Bardet-Biedl syndrome 11, 615988 (3)	TRIM32, HT2A, LGMDR8, BBS11	602290	9q33.1
?Bardet-Biedl syndrome 14, 615991 (3)	CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14	610142	12q21.32
?Bardet-Biedl syndrome 15, 615992 (3)	WDPCP, C2orf86, BBS15, CHDTHP	613580	2p15
?Bardet-Biedl syndrome 18, 615995 (3)	BBIP1, NCRNA00081, BBIP10, BBS18	613605	10q25.2
?Bardet-Biedl syndrome 22, 617119 (3)	IFT74, CCDC2, CMG1, BBS22, JBTS40, SPGF58	608040	9p21.2
?Bile acid malabsorption, primary, 1, 613291 (3)	SLC10A2, NTCP2, PBAM1	601295	13q33.1
?Bile acid malabsorption, primary, 2, 619481 (3)	SLC51B, OSTB, PBAM2	612085	15q22.31
?Bile acid synthesis defect, congenital, 5, 616278 (3)	ABCD3, PXMP1, PMP70, CBAS5	170995	1p21.3
?Bleeding disorder, platelet-type, 18, 615888 (3)	RASGRP2, CDC25L	605577	11q13.1
?Bleeding disorder, platelet-type, 19, 616176 (3)	PRKACG, BDPLT19	176893	9q21.11
?Bleeding disorder, platelet-type, 22, 618462 (3)	EPHB2, EPHT3, DRT, ERK, PCBC, CAPB, BDPLT22	600997	1p36.12
?Bone marrow failure syndrome 6, 618849 (3)	MDM4, BMFS6	602704	1q32.1
?Brachydactyly-syndactyly syndrome, 610713 (3)	HOXD13, HOX4I, SPD1, BDSD	142989	2q31.1
?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3)	PTPRF, LAR, BNAH2	179590	1p34.2
?Brugada syndrome 6, 613119 (3)	KCNE3, HOKPP, HYPP	604433	11q13.4
?CHARGE syndrome, 214800 (3)	SEMA3E, SEMAH, KIAA0331	608166	7q21.11
?COACH syndrome 3, 619113 (3)	RPGRIP1L, KIAA1005, JBTS7, MKS5, COACH3	610937	16q12.2
?Camptosynpolydactyly, complex, 607539 (3)	BHLHA9, BHLHF42, MSSD, CCSPD	615416	17p13.3
?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3)	SASH1, KIAA0790, CAPOK, DUH1	607955	6q24.3-q25.1
?Candidiasis, familial, 6, autosomal dominant, 613956 (3)	IL17F, ML1, CANDF6	606496	6p12.2
?Candidiasis, familial, 8, 615527 (3)	TRAF3IP2, C6orf5, ACT1, CIKS, C6orf4, C6orf6, PSORS13, CANDF8	607043	6q21
?Cardiomyopathy, dilated, 1J, 605362 (3)	EYA4, DFNA10, CMD1J	603550	6q23.2
?Cardiomyopathy, dilated, 1M, 607482 (3)	CSRP3, CRP3, CLP, CMD1M, CMH12	600824	11p15.1
?Cardiomyopathy, dilated, 2A, 611880 (3)	TNNI3, CMH7, CMD2A, RCM1, CMD1FF	191044	19q13.42
?Cardiomyopathy, dilated, 2B, 614672 (3)	GATAD1, ODAG, CMD2B	614518	7q21.2
?Cardiomyopathy, familial restrictive, 6, 619433 (3)	KIF20A, RAB6KIFL, RCM6	605664	5q31.2
?Cataract 41, 116400 (3)	WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41	606201	4p16.1
?Cataract 42, 115900 (3)	CRYBA2, CTRCT42	600836	2q35
?Cataract 43, 616279 (3)	UNC45B, SMUNC45, CTRCT43, MFM11	611220	17q12
?Cataract 45, 616851 (3)	SIPA1L3, SPAL3, SPAR3, KIAA0545, CTRCT45	616655	19q13.13-q13.2
?Cataract 49, 619593 (3)	PANK4, CTRCT49	606162	1p36.32
?Caudal duplication anomaly, 607864 (3)	AXIN1, AXIN	603816	16p13.3
?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction, 619482 (3)	MYO1H, CCHS2	614636	12q24.11
?Central hypoventilation syndrome, congenital, 3, 619483 (3)	LBX1, LBX1H, CCHS3	604255	10q24.32
?Centronuclear myopathy 4, 614807 (3)	CCDC78, C16orf25, CNM4	614666	16p13.3
?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)	ATP8A2, ATPIB, CAMRQ4	605870	13q12.13
?Cerebrooculofacioskeletal syndrome 2, 610756 (3)	ERCC2, EM9, XPD, COFS2, TTD1	126340	19q13.32
?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 (3)	PDK3, CMTX6	300906	Xp22.11
?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, 607831 (3)	JPH1, JP1, CMT2K	605266	8q21.11
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)	DHTKD1, KIAA1630, AAKAD, CMT2Q	614984	10p14
?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)	NAGLU, MPS3B, CMT2V	609701	17q21.2
?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3)	KARS1, KARS, CMTRIB, DFNB89, LEPID, DEAPLE	601421	16q23.1
?Charcot-Marie-Tooth disease, type 2B2, 605589 (3)	PNKP, PNK, MCSZ, AOA4, CMT2B2	605610	19q13.33
?Chilblain lupus 2, 614415 (3)	SAMHD1, AGS5, DCIP, CHBL2	606754	20q11.23
?Cholestasis, progressive familial intrahepatic, 6, 619484 (3)	SLC51A, OSTA, PFIC6	612084	3q29
?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863 (3)	HDAC6, CPBHM	300272	Xp11.23
?Chorea, childhood-onset, with psychomotor retardation, 616939 (3)	GPR88, STRG, COCPMR	607468	1p21.2
?Choroidal dystrophy, central areolar 1, 215500 (3)	GUCY2D, GUC2D, LCA1, CORD6, RCD2, CACD1, CSNB1I	600179	17p13.1
?Ciliary dyskinesia, primary, 37, 617577 (3)	DNAH1, HL11, DNAHC1, HDHC7, SPGF18, CILD37	603332	3p21.1
?Ciliary dyskinesia, primary, 41, 618449 (3)	GAS2L2, GAR17, CILD41	611398	17q12
?Ciliary dyskinesia, primary, 46, 619436 (3)	STK36, FU, KIAA1278, CILD46	607652	2q35
?Cocoon syndrome, 613630 (3)	CHUK, IKBKA, NFKBIKA, IKKA, IKK1, BPS2	600664	10q24.31
?Coenzyme Q10 deficiency, primary, 8, 616733 (3)	COQ7, CLK1, COQ10D8	601683	16p12.3
?Coenzyme Q10 deficiency, primary, 9, 619028 (3)	COQ5, COQ10D9	616359	12q24.31
?Coloboma of optic nerve, 120430 (3)	PAX6, AN2, MGDA, FVH1, ASGD5	607108	11p13
?Coloboma, ocular, 120200 (3)	PAX6, AN2, MGDA, FVH1, ASGD5	607108	11p13
?Coloboma, ocular, autosomal recessive, 216820 (3)	SALL2, HSAL2, COLB	602219	14q11.2
?Combined oxidative phosphorylation deficiency 19, 615595 (3)	LYRM4, ISD11, C6orf149, COXPD19	613311	6p25.1
?Combined oxidative phosphorylation deficiency 22, 616045 (3)	ATP5F1A, ATP5A1, ATPM, ATP5A, ORM, MC5DN4, COXPD22	164360	18q21.1
?Combined oxidative phosphorylation deficiency 25, 616430 (3)	MARS2, SPAX3, COXPD25	609728	2q33.1
?Combined oxidative phosphorylation deficiency 29, 616811 (3)	TXN2, TRX2, MTRX, COXPD29	609063	22q12.3
?Combined oxidative phosphorylation deficiency 34, 617872 (3)	MRPS7, COXPD34	611974	17q25.1
?Combined oxidative phosphorylation deficiency 38, 618378 (3)	MRPS14, COXPD38	611978	1q25.1
?Combined oxidative phosphorylation deficiency 41, 618838 (3)	GATB, PET112, COXPD41	603645	4q31.3
?Combined oxidative phosphorylation deficiency 43, 618851 (3)	TIMM22, TIM22, COXPD43	607251	17p13.3
?Combined oxidative phosphorylation deficiency 45, 618951 (3)	MRPL12, RPML12	602375	17q25.3
?Combined oxidative phosphorylation deficiency 46, 618952 (3)	MRPS23, COXPD46	611985	17q22
?Combined oxidative phosphorylation deficiency 47, 618958 (3)	MRPS28, MRPS35, COXPD47	611990	8q21.13
?Combined oxidative phosphorylation deficiency 49, 619024 (3)	MEIF2, SMCR7, MID49, COXPD49	615498	17p11.2
?Combined oxidative phosphorylation deficiency 50, 619025 (3)	MRPS25, COXPD50	611987	3p25.1
?Combined oxidative phosphorylation deficiency 51, 619057 (3)	PTCD3, COXPD51	614918	2p11.2
?Complement factor B deficiency, 615561 (3)	CFB, BF, GBG, AHUS4, ARMD14, CFBD	138470	6p21.33
?Cone-rod dystrophy (3)	UNC119, HRG4, IMD13	604011	17q11.2
?Congenital anomalies of kidney and urinary tract 3, 618270 (3)	NRIP1, RIP140, CAKUT3	602490	21q11.2-q21.1
?Congenital disorder of glycosylation, type 1aa, 617082 (3)	NUS1, NGBR, C6orf68, CDG1AA, MRD55	610463	6q22.1
?Congenital disorder of glycosylation, type 1bb, 613861 (3)	DHDDS, HDS, RP59, DEDSM	608172	1p36.11
?Congenital disorder of glycosylation, type IIq, 617395 (3)	COG2, LDLC, CDG2Q	606974	1q42.2
?Congenital disorder of glycosylation, type Ir, 614507 (3)	DDOST, OST, OST48, CDG1R	602202	1p36.12
?Congenital disorder of glycosylation, type Ix, 615597 (3)	STT3B, SIMP, CDG1X	608605	3p23
?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)	FRMD4A, KIAA1294, CCAFCA	616305	10p13
?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, 300472 (3)	IGBP1, MRXS28	300139	Xq13.1
?Cowden syndrome 7, 616858 (3)	SEC23B, CDAN2, HEMPAS, CWS7	610512	20p11.23
?Cranioectodermal dysplasia 3, 614099 (3)	IFT43, C14orf179, CED3, SRTD18, RP81	614068	14q24.3
?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)	VSX1, RINX, KTCN1, CAASDS	605020	20p11.21
?Craniofacioskeletal syndrome (2)	CFSS	300712	Xq26-q27
?Craniosynostosis 6, 616602 (3)	ZIC1, CRS6, BAIDCS	600470	3q24
?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)	ATR, FRP1, SCKL1, FCTCS	601215	3q23
?Cutis laxa, autosomal dominant 2, 614434 (3)	FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD, CMT1H	604580	14q32.12
?De Sanctis-Cacchione syndrome, 278800 (3)	ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11	609413	10q11.23
?Deafness, X-linked 6, 300914 (3)	COL4A6, DELXq22.3, CXDELq22.3, DFNX6	303631	Xq22.3
?Deafness, X-linked 7, 301018 (3)	GPRASP2, GASP2, DFNX7	300969	Xq22.1
?Deafness, Y-linked 2, 400047 (3)	TBL1Y, DFNY2	400033	Yp11.2
?Deafness, autosomal dominant 44, 607453 (3)	CCDC50, C3orf6, DFNA44	611051	3q28
?Deafness, autosomal dominant 66, 616969 (3)	CD164, DFNA66	603356	6q21
?Deafness, autosomal dominant 68, 616707 (3)	HOMER2, HOMER2B, HOMER2A, DFNA68	604799	15q25.2
?Deafness, autosomal dominant 70, 616968 (3)	MCM2, CDCL1, DFNA70	116945	3q21.3
?Deafness, autosomal dominant 71, 617605 (3)	DMXL2, RC3, KIAA0856, PEPNS, DFNA71, DEE81	612186	15q21.2
?Deafness, autosomal dominant 72, 617606 (3)	SLC44A4, CTL4, C6orf29, DFNA72	606107	6p21.33
?Deafness, autosomal dominant 74, 618140 (3)	PDE1C, HCAM3, DFNA74	602987	7p14.3
?Deafness, autosomal dominant 75, 618778 (3)	TRRAP, DEDDFA, DFNA75	603015	7q22.1
?Deafness, autosomal dominant 77, 618915 (3)	ABCC1, MRP1, MRP, DFNA77	158343	16p13.11
?Deafness, autosomal dominant 79, 619086 (3)	SCD5, ACOD4, DFNA79	608370	4q21.22
?Deafness, autosomal dominant 81, 619500 (3)	ELMOD3, RBED1, DFNB88, DFNA81	615427	2p11.2
?Deafness, autosomal dominant 83, 619808 (3)	MAP1B, PVNH9, DFNA83	157129	5q13.2
?Deafness, autosomal recessive 101, 615837 (3)	GRXCR2, DFNB101	615762	5q32
?Deafness, autosomal recessive 102, 615974 (3)	EPS8, DFNB102	600206	12p12.3
?Deafness, autosomal recessive 103, 616042 (3)	CLIC5, DFNB103	607293	6p21.1
?Deafness, autosomal recessive 104, 616515 (3)	RIPOR2, FAM65B, C6orf32, KIAA0386, PL48, DFNB104, DFNA21	611410	6p22.3
?Deafness, autosomal recessive 108, 617654 (3)	ROR1, NTRKR1	602336	1p31.3
?Deafness, autosomal recessive 109, 618013 (3)	ESRP1, RMB35A, DFNB109	612959	8q22.1
?Deafness, autosomal recessive 110, 618094 (3)	COCH, DFNA9, DFNB110	603196	14q12
?Deafness, autosomal recessive 112, 618257 (3)	BDP1, TFNR, DFNB112	607012	5q13.2
?Deafness, autosomal recessive 115, 618457 (3)	SPNS2, DFNB115	612584	17p13.2
?Deafness, autosomal recessive 116, 619093 (3)	CLDN9, DFNB116	615799	16p13.3
?Deafness, autosomal recessive 117, 619174 (3)	CLRN2, DFNB117	618988	4p15.32
?Deafness, autosomal recessive 26, 605428 (3)	GAB1, DFNB26	604439	4q31.21
?Deafness, autosomal recessive 44, 610154 (3)	ADCY1, DFNB44	103072	7p12.3
?Deafness, autosomal recessive 61, 613865 (3)	SLC26A5, PRES, DFNB61	604943	7q22.1
?Deafness, autosomal recessive 66, 610212 (3)	DCDC2, RU2, KIAA1154, NPHP19, DFNB66, NSC	605755	6p22.3
?Deafness, autosomal recessive 88, 615429 (3)	ELMOD3, RBED1, DFNB88, DFNA81	615427	2p11.2
?Deafness, autosomal recessive 91, 613453 (3)	SERPINB6, PI6, PTI, SPI3, DFNB91	173321	6p25.2
?Deafness, autosomal recessive 94, 618434 (3)	NARS2, COXPD24, DFNB94	612803	11q14.1
?Deafness, autosomal recessive 97, 616705 (3)	MET, DFNB97, OSFD	164860	7q31.2
?Deafness, autosomal recessive 98, 614861 (3)	TSPEAR, C21orf29, DFNB98, ECTD14	612920	21q22.3
?Deafness, cataract, impaired intellectual development, and polyneuropathy, 619354 (3)	PSMC3, TBP1, DCIDP	186852	11p11.2
?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3)	JAG1, AGS1, AHD, DCHE, CMT2HH	601920	20p12.2
?Developmental and epileptic encephalopathy 40, 617065 (3)	GUF1, EF4, DEE40	617064	4p12
?Developmental and epileptic encephalopathy 86, 618910 (3)	DALRD3, DEE86	618904	3p21.31
?Developmental and epileptic encephalopathy 88, 618959 (3)	MDH1, DEE88, KAR	154200	2p15
?Diabetes mellitus, insulin-dependent, neonatal (2)	PBCA	600089	6p21.3
?Diamond-Blackfan anemia 11, 614900 (3)	RPL26, DBA11	603704	17p13.1
?Diamond-Blackfan anemia 12, 615550 (3)	RPL15, DBA12	604174	3p24.2
?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3)	TSR2, WGG1, DBA14	300945	Xp11.22
?Diamond-Blackfan anemia 16, 617408 (3)	RPL27, DBA16	607526	17q21.31
?Diamond-Blackfan anemia 17, 617409 (3)	RPS27, MPS1, DBA17	603702	1q21.3
?Diamond-Blackfan anemia 18, 618310 (3)	RPL18, DBA18	604179	19q13.33
?Diamond-Blackfan anemia 19, 618312 (3)	RPL35, DBA19	618315	9q33.3
?Diamond-Blackfan anemia 20, 618313 (3)	RPS15A, DBA20	603674	16p12.3
?Diamond-Blackfan anemia-like, 617911 (3)	EPO, MVCD2, ECYT5, DBAL	133170	7q22.1
?Diarrhea 7, protein-losing enteropathy type, 615863 (3)	DGAT1, ARGP1, DIAR7	604900	8q24.3
?Digital clubbing, isolated congenital, 119900 (3)	HPGD, PGDH1, PHOAR1	601688	4q34.1
?Dyskeratosis congenita, autosomal dominant 6, 616553 (3)	ACD, PTOP, PIP1, TINT1	609377	16q22.1
?Dyskeratosis congenita, autosomal recessive 7, 616553 (3)	ACD, PTOP, PIP1, TINT1	609377	16q22.1
?Dystonia 32, 619637 (3)	VPS11, HLD12; DYT32	608549	11q23.3
?Dystonia 34, myoclonic, 619724 (3)	KCNN2, SK2, DYT34, NEDMAB	605879	5q22.3
?Dystonia, juvenile-onset, 607371 (3)	ACTB, BRWS1	102630	7p22.1
?EEC syndrome-1 (2)	EEC1	129900	7q11.2-q21.3
?ENDOVE syndrome, limb-brain type, 619218 (3)	EN1, ENDOVESLB	131290	2q14.2
?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, 617337 (3)	KDF1, C1orf172, ECTD12	616758	1p36.11
?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535 (3)	CST6, ECTD15	601891	11q13.1
?Ectodermal dysplasia 7, hair/nail type, 614929 (3)	KRT74, K6IRS4, KRT6IRS4, HTSS2, HYPT3, ADWH	608248	12q13.13
?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, 616487 (3)	PLEC1, PLEC, PLTN, LGMDR17, EBS5A, EBS5B, EBS5C, EBS5D	601282	8q24.3
?Epilepsy, familial adult myoclonic, 6, 618074 (3)	TNRC6A, GW182, KIAA1460, FAME6	610739	16p12.1
?Epilepsy, familial adult myoclonic, 7, 618075 (3)	RAPGEF2, NRAPGEP, RAGEF, KIAA0313	609530	4q32.1
?Epilepsy, familial temporal lobe, 8, 616461 (3)	GAL, GALN, GLNN, ETL8	137035	11q13.2
?Epilepsy, myoclonic, familial adult, 4, 615127 (3)	YEATS2, KIAA1197, FAME4	613373	3q27.1
?Epilepsy, myoclonic, familial adult, 5, 615400 (3)	CNTN2, TAX, TAX1, FAME5	190197	1q32.1
?Epilepsy, progressive myoclonic, 10, 616640 (3)	PRDM8, EPM10	616639	4q21.21
?Epilepsy, progressive myoclonic, 9, 616540 (3)	LMNB2, LMN2, EPM9, MCPH27	150341	19p13.3
?Epiphyseal dysplasia, multiple, 6, 614135 (3)	COL9A1, EDM6, STL4	120210	6q13
?Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)	COL2A1	120140	12q13.11
?Episodic pain syndrome, familial, 1, 615040 (3)	TRPA1, ANKTM1, FEPS1	604775	8q21.11
?Exercise intolerance, riboflavin-responsive, 616839 (3)	SLC25A32, MFT, GLYB, RREI	138480	8q22.3
?Exudative vitreoretinopathy 6, 616468 (3)	ZNF408, EVR6, RP72	616454	11p11.2
?FG syndrome 2, 300321 (3)	FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2	300017	Xq28
?Facial clefting, oblique, 1, 600251 (3)	SPECC1L, KIAA0376, OBLFC1, TBHS1	614140	22q11.23
?Facial palsy, congenital, with ptosis and velopharyngeal dysfunction, 617732 (3)	TUBB6, FPVEPD	615103	18p11.21
?Facioscapulohumeral muscular dystrophy 3, digenic, 619477 (3)	LRIF1, RIF1, FSHD3	615354	1p13.3
?Familial cold autoinflammatory syndrome 4, 616115 (3)	NLRC4, CARD12, CLAN, IPAF, AIFEC, FCAS4	606831	2p22.3
?Fanconi anemia, complementation group U, 617247 (3)	XRCC2, FANCU, SPGF50, POF17	600375	7q36.1
?Fanconi anemia, complementation group V, 617243 (3)	MAD2L2, MAD2B, FANCV	604094	1p36.22
?Fanconi anemia, complementation group W, 617784 (3)	RFWD3, FANCW	614151	16q23.1
?Fanconi renotubular syndrome 2, 613388 (3)	SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2, HCINF2	182309	5q35.3
?Fanconi renotubular syndrome 3, 615605 (3)	EHHADH, PBFE, LBFP, FRTS3	607037	3q27.2
?Fazio-Londe disease, 211500 (3)	SLC52A3, C20orf54, RFT2, BVVLS1	613350	20p13
?Febrile seizures, familial, 4, 604352 (3)	ADGRV1, GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C	602851	5q14.3
?Fibromatosis, gingival, 1, 135300 (3)	SOS1, GINGF, GF1, HGF, NS4	182530	2p22.1
?Focal cortical dysplasia, type II, somatic, 607341 (3)	TSC2, LAM	191092	16p13.3
?Frontotemporal dementia and/or amyotrophic lateral sclerosis 8, 619132 (3)	CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS, FTDALS8	605018	16q12.1
?Galloway-Mowat syndrome 8, 618349 (3)	NUP133, NPHS18, GAMOS8	607613	1q42.13
?Giant axonal neuropathy 2, autosomal dominant, 610100 (3)	DCAF8, WDR42A, GAN2	615820	1q23.2
?Glucocorticoid deficiency 5, 617825 (3)	TXNRD2, TRXR2, SELZ, GCCD5	606448	22q11.21
?Glutathioninuria, 231950 (3)	GGT1, GGT, GGTD	612346	22q11.23
?Glycine encephalopathy, 605899 (3)	GCSH, NKH	238330	16q23.2
?Glycogen storage disease XV, 613507 (3)	GYG1, GSD15	603942	3q24
?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, 619321 (3)	ZPR1, ZNF259, GKAF	603901	11q23.3
?Guttmacher syndrome, 176305 (3)	HOXA13, HOX1J	142959	7p15.2
?Hairy ears, Y-linked (2)	HEY	425500	Yq
?Halperin-Birk syndrome, 618651 (3)	SEC31A, SEC31L1, KIAA0905, NEDSOSB, HPBKS	610257	4q21.22
?Hemochromatosis, type 5, 615517 (3)	FTH1, FTHL6, HFE5	134770	11q12.3
?Hemolytic anemia, congenital, X-linked, 301015 (3)	ATP11C, ATPIQ, ATPIG, HACXL	300516	Xq27.1
?Hermansky-Pudlak syndrome 10, 617050 (3)	AP3D1, HPS10	607246	19p13.3
?Hermansky-Pudlak syndrome 9, 614171 (3)	BLOC1S6, BLOS6, PLDN, PA, HPS9	604310	15q21.1
?Heterotaxy, visceral, 3, autosomal (2)	HTX3	606325	6q21
?Hip dysplasia, Beukes type, 142669 (3)	UFSP2, C4orf20, BHD, SEMDDR	611482	4q35.1
?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)	ECE1	600423	1p36.12
?Humerofemoral hypoplasia with radiotibial ray deficiency, 618022 (3)	RSPO2, CRISTIN2, TETAMS2, HHRRD	610575	8q23.1
?Hydrocephalus, autosomal dominant (2)	HDCPH1	123155	8q12.2-q21.2
?Hydrolethalus syndrome 2, 614120 (3)	KIF7, HLS2, ACLS, JBTS12, AGBK	611254	15q26.1
?Hydroxykynureninuria, 236800 (3)	KYNU, KYNUU, VCRL2	605197	2q22.2
?Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3)	BCO1, BCMO1, BCDO	605748	16q23.2
?Hyperimmunoglobulin G1 syndrome (2)	IGHR	144120	14q32.33
?Hyperostosis cranalis interna, 144755 (3)	SLC39A14, ZIP14, KIAA0062, HMNDYT2, HCIN	608736	8p21.3
?Hypertrichosis universalis congenita, Ambras type (2)	HTC1	145701	8q22
?Hypertrichosis, congenital generalized, with gingival hyperplasia, 135400 (3)	ABCA5, KIAA1888, HTC3	612503	17q24.3
?Hypervalinemia or hyperleucine-isoleucinemia, 618850 (3)	BCAT2, BCT2, HVLI	113530	19q13.33
?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3)	GNRH1, LNRH, HH12	152760	8p21.2
?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)	KISS1, HH13	603286	1q32.1
?Hypogonadotropic hypogonadism 27 without anosmia, 619755 (3)	NHLH2, HEN2, HH27	162361	1p13.1
?Hypomagnesemia 4, renal, 611718 (3)	EGF, URG, HOMG4	131530	4q25
?Hypotrichosis 13, 615896 (3)	KRT71, K6IRS1, KRT6IRS1, HYPT13	608245	12q13.13
?Hypotrichosis 3, 613981 (3)	KRT74, K6IRS4, KRT6IRS4, HTSS2, HYPT3, ADWH	608248	12q13.13
?Hypotrichosis 5, 612841 (3)	EPS8L3, EPS8R3, HYPT5	614989	1p13.3
?IVIC syndrome, 147750 (3)	SALL4, HSAL4, DRRS, IVIC	607343	20q13.2
?Immune dysregulation and systemic hyperinflammation syndrome, 618998 (3)	RC3H1, KIAA2025, IMDSHY	609424	1q25.1
?Immunodeficiency 13, 615518 (3)	UNC119, HRG4, IMD13	604011	17q11.2
?Immunodeficiency 16, 615593 (3)	TNFRSF4, TXGP1L, OX40, ACT35, IMD16	600315	1p36.33
?Immunodeficiency 22, 615758 (3)	LCK, IMD22	153390	1p35.2
?Immunodeficiency 25, 610163 (3)	CD247, CD3Z, TCRZ, IMD25	186780	1q24.2
?Immunodeficiency 37, 616098 (3)	BCL10, IMD37	603517	1p22.3
?Immunodeficiency 39, 616345 (3)	IRF7, IRF7A, IRF7B, IRF7C, IRF7H, IMD39	605047	11p15.5
?Immunodeficiency 45, 616669 (3)	IFNAR2, IMD45	602376	21q22.11
?Immunodeficiency 53, 617585 (3)	RELB, IREL, IMD53	604758	19q13.32
?Immunodeficiency 59 and hypoglycemia, 233600 (3)	HYOU1, IMD59	601746	11q23.3
?Immunodeficiency 61, 300310 (3)	SH3KBP1, CIN85, IMD61, AGMX2	300374	Xp22.12
?Immunodeficiency 62, 618459 (3)	ARHGEF1, LBCL2, IMD62	601855	19q13.2
?Immunodeficiency 66, 618847 (3)	MKL1, AMKL, MAL	606078	22q13.1-q13.2
?Immunodeficiency 69, mycobacteriosis, 618963 (3)	IFNG, IFG, IFI, IMD69	147570	12q15
?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia, 618987 (3)	RAC2, IMD73A, IMD73B, IMD73C	602049	22q13.1
?Immunodeficiency 81, 619374 (3)	LCP2, SLP76, IMD81	601603	5q35.1
?Immunodeficiency 84, 619437 (3)	IKZF3, ZNFN1A3, AIOLOS, IMD84	606221	17q12-q21.1
?Immunodeficiency 85 and autoimmunity, 619510 (3)	TOM1, IMD85	604700	22q12.3
?Immunodeficiency 88, 619630 (3)	TBX21, TBET, IMD88	604895	17q21.32
?Immunodeficiency 89 and autoimmunity, 619632 (3)	CARD10, CARMA3, BIMP1, IMD89	607209	22q13.1
?Immunodeficiency 94 with autoinflammation and dysmorphic facies, 619750 (3)	IL6ST, HIES4A, HIES4B, STWS2, IMD94	600694	5q11.2
?Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, 619846 (3)	CTNNBL1, NAP, IMD99	611537	20q11.23
?Immunodeficiency, common variable, 11, 615767 (3)	IL21, CVID11	605384	4q27
?Immunodeficiency, common variable, 14, 617765 (3)	IRF2BP2, CVID14	615332	1q42.3
?Immunodeficiency, common variable, 5, 613495 (3)	MS4A1, CD20, CVID5	112210	11q12.2
?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, 615422 (3)	HNRPA2B1, IBMPFD2	600124	7p15.2
?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3)	HNRNPA1, IBMPFD3, ALS20	164017	12q13.13
?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339 (3)	GLS, GLS1, DEE71, CASGID, GDPAG	138280	2q32.2
?Infantile liver failure syndrome 1, 615438 (3)	LARS1, LARS, LFIS, ILFS1	151350	5q32
?Inflammatory bowel disease (Crohn disease) 30, 619079 (3)	CARD8, TUCAN, KIAA0955, NDPP1, IBD30	609051	19q13.33
?Inflammatory bowel disease (infantile ulcerative colitis) 31, 619398 (3)	IL37, IL1F7, FIL1Z, IL1H4, IL1RP1, IBD31	605510	2q14.1
?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3)	ADAM17, TACE, NISBD1	603639	2p25.1
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)	EGFR, NISBD2	131550	7p11.2
?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147 (3)	CCNK, IDDHDF	603544	14q32.2
?Intellectual developmental disorder with short stature and variable skeletal anomalies, 618453 (3)	WIPI2, IDDSSA	609225	7p22.1
?Intellectual developmental disorder, X-linked 100, 300923 (3)	KIF4A, KIF4, XLID100	300521	Xq13.1
?Intellectual developmental disorder, X-linked 101, 300928 (3)	MID2, XLID101	300204	Xq22.3
?Intellectual developmental disorder, X-linked 107, 301013 (3)	STEEP1, CXorf56, XLID107	301012	Xq24
?Intellectual developmental disorder, X-linked, syndromic 11, Shashi type, 300238 (3)	RBMX, MRXS11	300199	Xq26.3
?Intellectual developmental disorder, X-linked, syndromic 12 (2)	MRXS12	309545	Xp11
?Intellectual developmental disorder, X-linked, syndromic 32, 300886 (3)	CLIC2, XAP121, MRXS32	300138	Xq28
?Intellectual developmental disorder, autosomal dominant 10, 614256 (3)	CACNG2, MRD10	602911	22q12.3
?Intellectual developmental disorder, autosomal dominant 11, 614257 (3)	EPB41L1, MRD11	602879	20q11.23
?Intellectual developmental disorder, autosomal recessive 45, 615979 (3)	FBXO31, FBX31, FBXO14, FBX14, MRT45	609102	16q24.2
?Intellectual developmental disorder, autosomal recessive 50, 616460 (3)	EDC3, YJDC, MRT50	609842	15q24.1
?Intellectual developmental disorder, autosomal recessive 52, 616887 (3)	LMAN2L, VIPL, MRT52	609552	2q11.2
?Intellectual developmental disorder, autosomal recessive 63, 618095 (3)	CAMK2A, KIAA0968, CAMKA, MRD53, MRT63	114078	5q32
?Isolated growth hormone deficiency due to defect in GHRF (1)	GHRH, GHRF	139190	20q11.23
?Joubert syndrome 29, 617562 (3)	TMEM107, MKS13, JBTS29	616183	17p13.1
?Joubert syndrome 38, 619476 (3)	KIAA0753, OFIP, OFD15, JBTS38, SRTD21	617112	17p13.1
?Juvenile myelomonocytic leukemia, 607785 (3)	CBL, CBL2, NSLL	165360	11q23.3
?Keratoderma, palmoplantar, punctate type 3 (2)	PPKP3	101850	2p25-p12
?Keratosis pilaris atrophicans, 604093 (3)	LRP1, A2MR, KPA	107770	12q13.3
?Lacrimal duct defect, 149700 (3)	IGSF3, LCDD	603491	1p13.1
?Laryngeal adductor paralysis (2)	LAP	150270	6p21.3-p21.2
?Laurence-Moon syndrome, 245800 (3)	PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS	603197	19p13.2
?Leber congenital amaurosis 19, 618513 (3)	USP45, LCA19	618439	6q16.2
?Lessel-Kubisch syndrome, 618681 (3)	MDM2, ACTFS, LSKB	164785	12q15
?Lethal congenital contractural syndrome 2, 607598 (3)	ERBB3, LCCS2, FERLK, VSCN1	190151	12q13.2
?Lethal congenital contracture syndrome 6, 616248 (3)	ZBTB42, ZNF925, LCCS6	613915	14q32.33
?Leukemia, acute myeloid, 601626 (3)	CEBPA, CEBP	116897	19q13.11
?Leukodystrophy, hypomyelinating, 20, 619071 (3)	CNP, CNP1, HLD20	123830	17q21.2
?Leukodystrophy, hypomyelinating, 24, 619851 (3)	ATP11A, ATPIS, ATPIH, DFNA84, HLD24	605868	13q34
?Leukodystrophy, progressive, early childhood-onset, 617762 (3)	ACER3, APHC, PHCA, PLDECO	617036	11q13.5
?Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3)	SCP2	184755	1p32.3
?Leukoencephalopathy, hereditary diffuse, with spheroids 2, 619661 (3)	AARS1, AARS, CMT2N, DEE29, HDLS2, TTD8	601065	16q22.1
?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome, 618878 (3)	EIF2AK1, HRI, LEMSPAD	613635	7p22.1
?Liddle syndrome 3, 618126 (3)	SCNN1A, BESC2, LIDLS3	600228	12p13.31
?Lipodystrophy, congenital generalized, type 3, 612526 (3)	CAV1, BSCL3, CGL3, PPH3, LCCNS	601047	7q31.2
?Lipodystrophy, familial partial, type 5, 615238 (3)	CIDEC, FSP27, CIDE3, FPLD5	612120	3p25.3
?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3)	CDK5, LIS7	123831	7q36.1
?Long QT syndrome 11, 611820 (3)	AKAP9, YOTIAO, AKAP450, LQT11	604001	7q21.2
?Lymphatic malformation 8, 618773 (3)	CALCRL, CGRPR, CRLR, LMPHM8	114190	2q32.1
?Lysosomal acid phosphatase deficiency, 200950 (1)	ACP2	171650	11p11.2
?Macular degeneration, age-related, 6, 613757 (3)	RAX2, RAXL1, QRX, CORD11, ARMD6	610362	19p13.3
?Macular dystrophy, patterned, 3, 617111 (3)	MAPKAP3, 3PK, MDPT3	602130	3p21.2
?Male infertility due to acrosin deficiency (2)	ACR	102480	22q13.33
?Maple syrup urine disease, mild variant, 615135 (3)	PPM1K, PP2CM, PTMP, MSUDMV	611065	4q22.1
?Marden-Walker syndrome, 248700 (3)	PIEZO2, FAM38B, DA5, DA3, MWKS, DAIPT	613629	18p11.22-p11.21
?Marsili syndrome, 147430 (3)	ZFHX2, ZFH5, ZNF409, KIAA1056, KIAA1762, MARSIS	617828	14q11.2
?Meckel syndrome 10, 614175 (3)	B9D2, MKS10, JBTS34	611951	19q13.2
?Meckel syndrome 12, 616258 (3)	KIF14, KIAA0042, MKS12, MCPH20	611279	1q32.1
?Meckel syndrome 8, 613885 (3)	TCTN2, TECT2, MKS8, JBTS24	613846	12q24.31
?Meckel syndrome 9, 614209 (3)	B9D1, MKSR1, MKS9, JBTS27	614144	17p11.2
?Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, 619362 (3)	LMOD1, SMLMOD, 1D, MMIHS3	602715	1q32.1
?Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, 619365 (3)	MYL9, MLC2, MMIHS4	609905	20q11.23
?Megaloblastic anemia, folate-responsive, 601775 (3)	SLC19A1, FOLT, MEGAF	600424	21q22.3
?Meier-Gorlin syndrome 5, 613805 (3)	CDC6, CDC18L, MGORS5	602627	17q21.2
?Meier-Gorlin syndrome 8, 617564 (3)	MCM5, CDC46, MGORS8	602696	22q12.3
?Melkersson-Rosenthal syndrome (2)	MROS	155900	9p11
?Microcephaly 11, primary, autosomal recessive, 615414 (3)	PHC1, EDR1, HPH1, RAE28, MCPH11	602978	12p13.31
?Microcephaly 12, primary, autosomal recessive, 616080 (3)	CDK6, PLSTIRE, MCPH12	603368	7q21.2
?Microcephaly 13, primary, autosomal recessive, 616051 (3)	CENPE, MCPH13	117143	4q24
?Microcephaly 18, primary, autosomal dominant, 617520 (3)	WDFY3, ALFY, BCHS, MCPH18	617485	4q21.23
?Microcephaly 19, primary, autosomal recessive, 617800 (3)	COPB2, MCPH19	606990	3q23
?Microcephaly 21, primary, autosomal recessive, 617983 (3)	NCAPD2, CNAP1, KIAA0159, MCPH21	615638	12p13.31
?Microcephaly 23, primary, autosomal recessive, 617985 (3)	NCAPH, CAPH, BRRN1, MCPH23	602332	2q11.2
?Microcephaly 24, primary, autosomal recessive, 618179 (3)	NUP37, p37, MCPH24	609264	12q23.2
?Microcephaly 25, primary, autosomal recessive, 618351 (3)	MAP11, C7orf43, MCPH25	618350	7q22.1
?Microcephaly 28, primary, autosomal recessive, 619453 (3)	RRP7A, MCPH28	619449	22q13.2
?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1, 619082 (3)	ARL2, MRCS1	601175	11q13.1
?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2, 193220 (3)	BEST1, VMD2, ARB, RP50	607854	11q12.3
?Microhydranencephaly, 605013 (3)	NDE1, NUDE, LIS4, MHAC	609449	16p13.11
?Microphthalmia, isolated, with coloboma 9, 615145 (3)	TENM3, ODZ3, TNM3, KIAA1455, MCOPCB9, MCOPS15	610083	4q34.3-q35.1
?Microphthalmia, syndromic 11, 614402 (3)	VAX1, MCOPS11	604294	10q25.3
?Microphthalmia, syndromic 13, 300915 (3)	HMGB3, HMG4, HMG2A, MCOPS13	300193	Xq28
?Microtia, hearing impairment, and cleft palate (AR), 612290 (3)	HOXA2, MCOHI	604685	7p15.2
?Mirror movements 3, 616059 (3)	DNAL4, MRMV3	610565	22q13.1
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3)	OPA1, NTG, NPG, BERHS, MTDPS14	605290	3q29
?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3)	TFAM, TCF6L2, TCF6L1, TCF6L3, MTTF1, TCF6, MTDPS15	600438	10q21.1
?Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 (3)	POLG2, POLGB, PEOA4, MTDPS16A, MTDPS16B	604983	17q23.3
?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), 619425 (3)	POLG2, POLGB, PEOA4, MTDPS16A, MTDPS16B	604983	17q23.3
?Mitochondrial DNA depletion syndrome 17, 618567 (3)	MRM2, FTSJ2, FJH1, MTDPS17	606906	7p22.3
?Mitochondrial DNA depletion syndrome 18, 618811 (3)	SLC25A21, ODC, MTDPS18	607571	14q13.3
?Mitochondrial DNA depletion syndrome 19, 618972 (3)	SLC25A10, DIC, MTDPS19	606794	17q25.3
?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)	NDUFB9, UQOR22, MC1DN24	601445	8q24.13
?Mitochondrial complex I deficiency, nuclear type 28, 618249 (3)	NDUFA13, GRIM19, MC1DN28	609435	19p13.11
?Mitochondrial complex I deficiency, nuclear type 30, 301021 (3)	NDUFB11, LSDMCA3, MC1DN30	300403	Xp11.3
?Mitochondrial complex I deficiency, nuclear type 35, 619003 (3)	NDUFB10, MC1DN35	603843	16p13.3
?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3)	UQCC3, C11orf83, MC3DN9	616097	11q12.3
?Mitochondrial complex IV deficiency, nuclear type 10, 619053 (3)	COX14, C12orf62, MC4DN10	614478	12q13.12
?Mitochondrial complex IV deficiency, nuclear type 14, 619058 (3)	COA3, CCDC56, MC4DN14	614775	17q21.2
?Mitochondrial complex IV deficiency, nuclear type 15, 619059 (3)	COX8A, MC4DN15	123870	11q13.1
?Mitochondrial complex IV deficiency, nuclear type 19, 619063 (3)	PET117, MC4DN19	614771	20p11.23
?Mitochondrial complex IV deficiency, nuclear type 20, 619064 (3)	COX5A, MC4DN20	603773	15q24.2
?Mitochondrial complex IV deficiency, nuclear type 21, 619065 (3)	COXFA4, NDUFA4, MC4DN21	603833	7p21.3
?Mitochondrial complex IV, deficiency, nuclear type 9, 616500 (3)	COA5, C2orf64, PET191, MC4DN9	613920	2q11.2
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3)	ATPAF2, ATP12, MC5DN1	608918	17p11.2
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3)	ATP5E, MC5DN3	606153	20q13.32
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (3)	ATP5F1A, ATP5A1, ATPM, ATP5A, ORM, MC5DN4, COXPD22	164360	18q21.1
?Mitochondrial myopathy with lactic acidosis, 251950 (3)	PNPLA8, MMLA	612123	7q31.1
?Mitral valve prolapse 3, 610840 (3)	DZIP1, KIAA0996, SPGF47, MVP3	608671	13q32.1
?Moebius syndrome (2)	MBS, MBS1	157900	13q12.2-q13
?Morning glory disc anomaly, 120430 (3)	PAX6, AN2, MGDA, FVH1, ASGD5	607108	11p13
?Mucocutaneous ulceration, chronic, 618287 (3)	RELA, NFKB3, CMCU	164014	11q13.1
?Mungan syndrome, 611376 (3)	RAD21, SCC1, NXP1, KIAA0078, CDLS4, MGS	606462	8q24.11
?Muscle hypertrophy, 614160 (3)	MSTN, GDF8, MSLHP	601788	2q32.2
?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue, 616827 (3)	LIMS2, PINCH2, MDRCMTT	607908	2q14.3
?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 (3)	TOR1AIP1, LAP1, LAP1B, LGMD2Y	614512	1q25.2
?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3)	TRIP4, ASC1, SMABF1, MDCDC	604501	15q22.31
?Muscular dystrophy, limb-girdle, autosomal recessive 21, 617232 (3)	POGLUT1, CLP46, KTELC1, RUMI, C3orf9, DDD4, LGMDR21	615618	3q13.33
?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992 (3)	DPM3, MDDGC15, MDDGB15	605951	1q22
?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3)	POMK, SGK196, MDDGA12, MDDGC12	615247	8p11.21
?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3)	ALG14, CMS15, IDDEBF, MEPCA	612866	1p21.3
?Myasthenic syndrome, congenital, 17, 616304 (3)	LRP4, MEGF7, CLSS, SOST2, CMS17	604270	11p11.2
?Myasthenic syndrome, congenital, 18, 616330 (3)	SNAP25, CMS18	600322	20p12.2
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3)	CHRNB1, ACHRB, SCCMS, CMS2A, CMS2C	100710	17p13.1
?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3)	CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C	100720	2q37.1
?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3)	CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C	100720	2q37.1
?Myoclonus, familial, 1, 614937 (3)	NOL3, NOP, MYC, ARC, FCM, MYOCL1	605235	16q22.1
?Myoclonus, familial, 2, 618364 (3)	SCN8A, CIAT, DEE13, BFIS5, MYOCL2	600702	12q13.13
?Myofibromatosis, infantile 2, 615293 (3)	NOTCH3, CADASIL1, CASIL, IMF2, LMNS	600276	19p13.12
?Myopathy, congenital proximal, with minicore lesions, 618823 (3)	FXR1, MYORIBF, MYOPMIL	600819	3q26.33
?Myopathy, congenital, Compton-North, 612540 (3)	CNTN1, MYPCN	600016	12q12
?Myopathy, congenital, with respiratory insufficiency and bone fractures, 618822 (3)	FXR1, MYORIBF, MYOPMIL	600819	3q26.33
?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3)	CHCHD10, FTDALS2, SMAJ, IMMD	615903	22q11.23
?Myopathy, scapulohumeroperoneal, 616852 (3)	ACTA1, ASMA, NEM3, CFTD1, SHPM	102610	1q42.13
?Myosclerosis, congenital, 255600 (3)	COL6A2, BTHLM1, UCMD1	120240	21q22.3
?N-acetylaspartate deficiency, 614063 (3)	NAT8L, CML3, NACED	610647	4p16.3
?Narcolepsy 1, 161400 (3)	HCRT, OX, NRCLP1	602358	17q21.2
?Narcolepsy 7, 614250 (3)	MOG, NRCLP7	159465	6p22.1
?Nephrolithiasis, calcium oxalate, 167030 (3)	SLC26A1, SAT1, CAON	610130	4p16.3
?Nephronophthisis 9, 613824 (3)	NEK8, JCK, NPHP9, RHPD2	609799	17q11.2
?Nephronophthisis-like nephropathy 2, 619468 (3)	SLC41A1, NPHPL2	610801	1q32.1
?Nephrotic syndrome, type 13, 616893 (3)	NUP205, C7orf14, KIAA0225, NPHS13	614352	7q33
?Nephrotic syndrome, type 19, 618178 (3)	NUP160, KIAA0197, NPHS19	607614	11p11.2
?Neurodegeneration with brain iron accumulation 7, 617916 (3)	REPS1, NBIA7	614825	6q24.1
?Neurodegeneration with brain iron accumulation 8, 617917 (3)	CRAT, CAT1, NBIA8	600184	9q34.11
?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, 618572 (3)	INTS8, INT8, NEDCHS	611351	8q22.1
?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, 617709 (3)	SARS1, SARS, SERS, NEDMAS	607529	1p13.3
?Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy, 619076 (3)	EXOC8, EXO84, SEC84, NEDMISB	615283	1q42.2
?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 (3)	ARHGEF2, GEFH1, KIAA0651, NEDMHM	607560	1q22
?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)	HSPB3, HSPL27, HMN2C, DHMN2C	604624	5q11.2
?Neuronopathy, distal hereditary motor, type VB, 614751 (3)	REEP1, C2orf23, SPG31, HMN5B	609139	2p11.2
?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)	DST, BPAG1, DMH, D6S1101, HSAN6, EBS3	113810	6p12.1
?Neuropathy, inflammatory demyelinating, 139393 (3)	PMP22, CMT1A, CMT1E, DSS, CIDP	601097	17p12
?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3)	GFI1, ZNF163, SCN2	600871	1p22.1
?Neutrophilia, hereditary, 162830 (3)	CSF3R, GCSFR, SCN7	138971	1p34.3
?Oculomotor-abducens synkinesis, 619215 (3)	ACKR3, CXCR7, CMKOR1, GPR159, RDC1	610376	2q37.3
?Oculopharyngeal myopathy with leukoencephalopathy 1, 618637 (3)	NUTM2B-AS1, OPML1	618639	10q22.3
?Olmsted syndrome, X-linked, 300918 (3)	MBTPS2, S2P, IFAP, KFSDX, OLMSX, OI19	300294	Xp22.12
?Ondontochondrodysplasia 2 with hearing loss and diabetes, 619269 (3)	MIA3, TANGO1, TANGO, KIAA0268, ODCD2	613455	1q41
?Oocyte maturation defect 11, 619643 (3)	ASTL, OOMD11	608860	2q11.2
?Optic atrophy 11, 617302 (3)	YME1L1, YME1L, PAMP, OPA11	607472	10p12.1
?Optic atrophy 9, 616289 (3)	ACO2, ICRD, OPA9	100850	22q13.2
?Orofacial cleft 10, 613705 (3)	SUMO1, UBL1, SMT3, OFC10	601912	2q33.1
?Orofacial cleft 15, 616788 (3)	DLX4, DLX7, DLX8, OFC15	601911	17q21.33
?Orofaciodigital syndrome XV, 617127 (3)	KIAA0753, OFIP, OFD15, JBTS38, SRTD21	617112	17p13.1
?Orofaciodigital syndrome XVII, 617926 (3)	INTU, KIAA1284, PDZK6, SRTD20, OFD17	610621	4q28.1
?Orofaciodigital syndrome XVIII, 617927 (3)	IFT57, ESRRBL1, HIPPI, OFD18	606621	3q13.12-q13.13
?Orthostatic intolerance, 604715 (3)	SLC6A2, NAT1, NET1	163970	16q12.2
?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits, 618167 (3)	CHST11, C4ST1, OCBMD	610128	12q23.3
?Osteopetrosis, autosomal recessive 6, 611497 (3)	PLEKHM1, AP162, KIAA0356, OPTB6, OPTA3	611466	17q21.31
?Otofaciocervical syndrome, 166780 (3)	EYA1, BOR, BOS1, OFC1	601653	8q13.3
?Ovarian dysgenesis 10, 619834 (3)	ZSWIM7, SWS1, SPGF71, ODG10	614535	17p12
?Ovarian dysgenesis 6, 618078 (3)	NUP107, NUP84, NPHS11, ODG6; GAMOS7	607617	12q15
?Ovarian dysgenesis 8, 618187 (3)	ESR2, ODG8	601663	14q23.2-q23.3
?Oxoglutarate dehydrogenase deficiency, 203740 (3)	OGDH, OGDHD	613022	7p13
?PEHO syndrome-like, 617507 (3)	CCDC88A, KIAA1212, HKRP1, GIRDIN, APE, GIV, PEHOL	609736	2p16.1
?Paganini-Miozzo syndrome, 301025 (3)	HS6ST2, MRXSPM	300545	Xq26.2
?Pain sensitivity QTL1 (4)	PAINQTL1	618377	1p33
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)	TRPV3, OLMS1, FNEPPK2	607066	17p13.2
?Pancreatic lipase deficiency, 614338 (3)	PNLIP, PNLIPD	246600	10q25.3
?Parkinsonism with spasticity, X-linked, 300911 (3)	ATP6AP2, ATP6M8-9, XMRE, MRXSH, XPDS, CDG2R	300556	Xp11.4
?Parkinsonism-dystonia, infantile, 2, 618049 (3)	SLC18A2, VAT2, SVMT, PKDYS2	193001	10q25.3
?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)	PIGT, NDAP, PNH2, MCAHS3	610272	20q13.12
?Peeling skin syndrome 3, 616265 (3)	CHST8, GALNAC4ST1, PSS3	610190	19q13.11
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)	MYH14, KIAA2034, DFNA4A, PNMHH	608568	19q13.33
?Periventricular nodular heterotopia 6, 615544 (3)	ERMARD, C6orf70, PVNH6	615532	6q27
?Peroxisome biogenesis disorder 10B, 617370 (3)	PEX3, PBD10A, PBD10B	603164	6q24.2
?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)	PCK1, PCKDC	614168	20q13.31
?Phosphoribosylaminoimidazole carboxylase deficiency, 619859 (3)	PAICS, AIRC, PAICSD	172439	4q12
?Phosphoserine aminotransferase deficiency, 610992 (3)	PSAT1, PSAT, EPIP, PSATD, NLS2	610936	9q21.2
?Polydactyly, postaxial, type A6, 615226 (3)	ZNF141, D4S90, PAPA6	194648	4p16.3
?Polydactyly, postaxial, type A9, 618219 (3)	FAM92A, FAM92A1, PAPA9	617273	8q22.1
?Polyendocrine-polyneuropathy syndrome, 616113 (3)	DMXL2, RC3, KIAA0856, PEPNS, DFNA71, DEE81	612186	15q21.2
?Polymicrogyria, bilateral temporooccipital, 612691 (3)	FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP	609390	6q21
?Pontocerebellar hypoplasia type 2C, 612390 (3)	TSEN34, PCH2C, LENG5, SEN34	608754	19q13.42
?Pontocerebellar hypoplasia type 5, 610204 (3)	TSEN54, SEN54, PCH2A, PCH4, PCH5	608755	17q25.1
?Pontocerebellar hypoplasia, type 15, 619302 (3)	CDC40, PRP17, PCH15	605585	6q21
?Pontocerebellar hypoplasia, type 1F, 619304 (3)	EXOSC1, CSL4, PCH1F	606493	10q24.1
?Pontocerebellar hypoplasia, type 3, 608027 (3)	PCLO, PCH3	604918	7q21.11
?Popliteal pterygium syndrome, Bartsocas-Papas type 2, 619339 (3)	CHUK, IKBKA, NFKBIKA, IKKA, IKK1, BPS2	600664	10q24.31
?Preauricular fistulae, congenital (2)	PAFC	128700	8q11.1-q13.3
?Precocious puberty, central, 1, 176400 (3)	KISS1R, GPR54, HH8, CPPB1	604161	19p13.3
?Premature ovarian failure 10, 612885 (3)	MCM8, POF10	608187	20p12.3
?Premature ovarian failure 12, 616947 (3)	SYCE1, POF12, SPGF15	611486	10q26.3
?Premature ovarian failure 13, 617442 (3)	MSH5, POF13	603382	6p21.33
?Premature ovarian failure 14, 618014 (3)	GDF9, POF14	601918	5q31.1
?Premature ovarian failure 15, 618096 (3)	FANCM, KIAA1596, SPGF28, POF15	609644	14q21.2
?Premature ovarian failure 16, 618723 (3)	BNC1, POF16	601930	15q25.2
?Premature ovarian failure 17, 619146 (3)	XRCC2, FANCU, SPGF50, POF17	600375	7q36.1
?Premature ovarian failure 18, 619203 (3)	C14orf39, SIX6OS1, SPGF52, POF18	617307	14q23.1
?Premature ovarian failure 2A, 300511 (3)	DIAPH2, DIA, POF2A	300108	Xq21.33
?Premature ovarian failure 2B, 300604 (3)	FLJ22792, POF1B, POF2B	300603	Xq21.1
?Progesterone resistance, 264080 (2)	PGR	607311	11q22.1
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3)	TK2, MTDPS2, PEOB3	188250	16q21
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3)	TOP3A, MGRISCE2, PEOB5	601243	17p11.2
?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, 617591 (3)	PSMB4, PRAAS3	602177	1q21.3
?Proteasome-associated autoinflammatory syndrome 3, digenic, 617591 (3)	PSMB9, LMP2, RING12, PRAAS3	177045	6p21.32
?Proteasome-associated autoinflammatory syndrome 4, 619183 (3)	PSMG2, TNFSF5IP1, HCCA3, CLAST3, PAC2, PRAAS4	609702	18p11.21
?Protoporphyria, erythropoietic, 2, 618015 (3)	CLPX, EPP2	615611	15q22.31
?Ptosis, congenital, 178300 (2)	ZFHX4, ZFH4	606940	8q21.13
?Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, 618674 (3)	ZCCHC8, PFBMFT5	616381	12q24.31
?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470 (3)	NRAS, ALPS4, NS6, CMNS, NCMS	164790	1p13.2
?RHYNS syndrome, 602152 (3)	TMEM67, MKS3, JBTS6, NPHP11	609884	8q22.1
?Ragweed sensitivity (2)	RWS	179450	6p21.3
?Rajab interstitial lung disease with brain calcifications 2, 619013 (3)	FARSA, CML33, RILDBC2	602918	19p13.13
?Renal cell carcinoma, clear cell, 144700 (3)	PBRM1, PB1, BAF180, RCC	606083	3p21.1
?Renal hypodysplasia/aplasia 2, 615721 (3)	FGF20, RHDA2	605558	8p22
?Respiratory papillomatosis, juvenile recurrent, congenital, 618803 (3)	NLRP1, NALP1, KIAA0926, DEFCAP, CARD7, VAMAS1, MSPC, AIADK, JRRP	606636	17p13.2
?Retinal arteries, tortuosity of, 180000 (3)	COL4A1, BSVD1, HANAC, ICH, BSVD, RATOR, PADMAL	120130	13q34
?Retinal cone dystrophy-1 (2)	RCD1	180020	6q25-q26
?Retinal dystrophy and iris coloboma with or without cataract, 616722 (3)	MIR204, MIRN204, RDICC	610942	9q21.12
?Retinal dystrophy and obesity, 616188 (3)	TUB, RDOB	601197	11p15.4
?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (3)	ITM2B, BRI, ABRI, FBD, RDGCA	603904	13q14.2
?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3)	RDH11, PSDR1, RALR1, RDJCSS	607849	14q24.1
?Retinitis pigmentosa 23, 300424 (3)	OFD1, CXorf5, SGBS2, JBTS10, RP23	300170	Xp22.2
?Retinitis pigmentosa 51, 613464 (3)	TTC8, BBS8, RP51	608132	14q31.3
?Retinitis pigmentosa 58, 613617 (3)	ZNF513, RP58	613598	2p23.3
?Retinitis pigmentosa 66, 615233 (3)	RBP3, RP66	180290	10q11.22
?Retinitis pigmentosa 67, 615565 (3)	NEK2, RP67	604043	1q32.3
?Retinitis pigmentosa 81, 617871 (3)	IFT43, C14orf179, CED3, SRTD18, RP81	614068	14q24.3
?Retinitis pigmentosa 85, 618345 (3)	AHR, RP85	600253	7p21.1
?Retinitis pigmentosa 9, 180104 (3)	RP9, PAP1	607331	7p14.3
?Retinitis pigmentosa, X-linked recessive, 6 (2)	RP6	312612	Xp21.3-p21.2
?Reynolds syndrome, 613471 (3)	LBR, PHA, PHASK	600024	1q42.12
?Rhizomelic dysplasia, Ain-Naz type, 616510 (3)	GNPNAT1, GNA1, RHZDAN	616510	14q22.1
?Roifman-Chitayat syndrome, digenic, 613328 (3)	KNSTRN, C15orf23, SKAP, ROCHIS	614718	15q15.1
?Roifman-Chitayat syndrome, digenic, 613328 (3)	PIK3CD, APDS, IMD14A, IMD14B, ROCHIS	602839	1p36.22
?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, 300643 (3)	SRPX2, SRPUL, RESDX	300642	Xq22.1
?SERKAL syndrome, 611812 (3)	WNT4, SERKAL	603490	1p36.12
?Sarcoma, synovial, 300813 (3)	SSX1, SSRC	312820	Xp11.23
?Sarcoma, synovial, 300813 (3)	SSX2	300192	Xp11.22
?Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)	ZNF750, FLJ13841, SLDPE	610226	17q25.3
?Seckel syndrome 4, 613676 (3)	CENPJ, CPAP, MCPH6, SCKL4	609279	13q12.12-q12.13
?Seckel syndrome 6, 614728 (3)	CEP63, SCKL6	614724	3q22.2
?Seckel syndrome 7, 614851 (3)	NIN, KIAA1565, SCKL7	608684	14q22.1
?Seckel syndrome 8, 615807 (3)	DNA2, DNA2L, KIAA0083, PEOA6, SCKL8	601810	10q21.3
?Short stature and microcephaly with genital anomalies, 618702 (3)	CENPT, SSMGA	611510	16q22.1
?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3)	INTU, KIAA1284, PDZK6, SRTD20, OFD17	610621	4q28.1
?Sick sinus syndrome 4, 619464 (3)	GNB2, SSS4; NEDHYDF	139390	7q22.1
?Slowed nerve conduction velocity, AD, 608236 (3)	ARHGEF10, KIAA0294, SNCV	608136	8p23.3
?Spastic ataxia 4, autosomal recessive, 613672 (3)	MTPAP, PAPD1, SPAX4	613669	10p11.23
?Spastic ataxia 9, autosomal recessive, 618438 (3)	CHP1, SPAX9	606988	15q15.1
?Spastic paraplegia 41, autosomal dominant (2)	SPG41	613364	11p14.1-p11.2
?Spastic paraplegia 43, autosomal recessive, 615043 (3)	C19orf12, NBIA4, SPG43	614297	19q12
?Spastic paraplegia 44, autosomal recessive, 613206 (3)	GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPHM3	608803	1q42.13
?Spastic paraplegia 57, autosomal recessive, 615658 (3)	TFG, HMSNP, SPG57	602498	3q12.2
?Spastic paraplegia 61, autosomal recessive, 615685 (3)	ARL6IP1, KIAA0069, SPG61	607669	16p12.3
?Spastic paraplegia 63, 615686 (3)	AMPD2, SPG63, PCH9	102771	1p13.3
?Spastic paraplegia 72, autosomal dominant, 615625 (3)	REEP2, C5orf19, SPG72	609347	5q31.2
?Spastic paraplegia 72, autosomal recessive, 615625 (3)	REEP2, C5orf19, SPG72	609347	5q31.2
?Spastic paraplegia 73, autosomal dominant, 616282 (3)	CPT1C, SPG73	608846	19q13.33
?Spastic paraplegia 74, autosomal recessive, 616451 (3)	IBA57, C1orf69, MMDS3, SPG74	615316	1q42.13
?Spermatogenic failure 13, 615841 (3)	TAF4B, TAF2C2, TAFII105, SPGF13	601689	18q11.2
?Spermatogenic failure 14, 615842 (3)	ZMYND15, SPGF14	614312	17p13.2
?Spermatogenic failure 15, 616950 (3)	SYCE1, POF12, SPGF15	611486	10q26.3
?Spermatogenic failure 20, 617593 (3)	CFAP44, WDR52, SPGF20	617559	3q13.2
?Spermatogenic failure 21, 617644 (3)	BRDT, SPGF21	602144	1p22.1
?Spermatogenic failure 22, 617706 (3)	MEIOB, SPGF22	617670	16p13.3
?Spermatogenic failure 26, 617961 (3)	TSGA10, SPGF26	607166	2q11.2
?Spermatogenic failure 27, 617965 (3)	AK7, SPGF27	615364	14q32.2
?Spermatogenic failure 29, 618091 (3)	SPINK2, SPGF29	605753	4q12
?Spermatogenic failure 30, 618110 (3)	TDRD9, C14orf75, HLS, SPNE, SPGF30	617963	14q32.33
?Spermatogenic failure 41, 618670 (3)	CFAP70, TTC18, SPGF41	618661	10q22.2
?Spermatogenic failure 54, 619379 (3)	CATIP, C2orf62	619387	2q35
?Spermatogenic failure 55, 619380 (3)	SPAG17, PF6, SPGF55	616554	1p12
?Spermatogenic failure 59, 619645 (3)	TERB2, C15orf43, SPGF59	617131	15q21.1
?Spermatogenic failure 6, 102530 (3)	SPATA16, SPGF6	609856	3q26.31
?Spermatogenic failure 62, 619673 (3)	RNF212, ZHP3, SPGF62	612041	4p16.3
?Spermatogenic failure 63, 619689 (3)	RPL10L, SPGF63	619655	14q21.2
?Spermatogenic failure 66, 619799 (3)	ZPBP, SP38, SPGF66	608498	7p12.2
?Spermatogenic failure 67, 619803 (3)	CCDC62, ERAP75, SPGF67	613481	12q24.31
?Spermatogenic failure 68, 619805 (3)	C2CD6, ALS2CR11, SPGF68	619776	2q33.1
?Spermatogenic failure 72, 619867 (3)	WDR19, SRTD5, ATD5, NPHP13, CED4, SPGF72	608151	4p14
?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3)	SIGMAR1, SRBP, ALS16, DSMA2	601978	9p13.3
?Spinocerebellar ataxia 26, 609306 (3)	EEF2, EF2, SCA26	130610	19p13.3
?Spinocerebellar ataxia 30 (2)	SCA30	613371	4q34.3-q35.1
?Spinocerebellar ataxia 40, 616053 (3)	CCDC88C, HKRP2, DAPLE, KIAA1509, HYC1, SCA40	611204	14q32.11-q32.12
?Spinocerebellar ataxia 41, 616410 (3)	TRPC3, TRP3, SCA41	602345	4q27
?Spinocerebellar ataxia 43, 617018 (3)	MME, CD10, CALLA, NEP, CMT2T, SCA43	120520	3q25.2
?Spinocerebellar ataxia 46, 617770 (3)	PLD3, HUK4, SCA46	615698	19q13.2
?Spinocerebellar ataxia, X-linked 1, 302500 (3)	ATP2B3, PMCA3, SCAX1	300014	Xq28
?Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)	SYT14, SCAR11	610949	1q32.2
?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)	VWA3B, SCAR22	614884	2q11.2
?Spinocerebellar ataxia, autosomal recessive 24, 617133 (3)	UBA5, UBE1DC1, DEE44, SCAR24	610552	3q22.1
?Spinocerebellar ataxia, autosomal recessive 25, 617584 (3)	ATG5, APG5, APG5L, ASP, SCAR25	604261	6q21
?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3)	XRCC1, SCAR26	194360	19q13.31
?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, 607250 (3)	TDP1, SCAN1	607198	14q32.11
?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3)	DLX5, SHFM1D, SHFM1	600028	7q21.3
?Spondylocostal dysostosis 6, 616566 (3)	RIPPLY2, C6orf59, SCDO6	609891	6q14.2
?Spondyloepimetaphyseal dysplasia, Di Rocco type, 617974 (3)	UFSP2, C4orf20, BHD, SEMDDR	611482	4q35.1
?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3)	SIK3, KIAA0999, SEMDK	614776	11q23.3
?Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3)	MMP13, CLG3, MANDP1, MDST	600108	11q22.2
?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)	ACAN, AGC1, CSPG1, MSK16, SEDK, SSOAOD	155760	15q26.1
?Spondyloepiphyseal dysplasia, Kondo-Fu type, 618392 (3)	MBTPS1, S1P, SEDKF	603355	16q23.3-q24.1
?Stickler syndrome, type V, 614284 (3)	COL9A2, EDM2, STL5	120260	1p34.2
?Sudden cardiac failure, alcohol-induced, 617223 (3)	PPA2, SCFI, SCFAI	609988	4q24
?Tessadori-van Haaften neurodevelopmental syndrome 2, 619759 (3)	H4C11, HIST1H4J, H4FE, TEVANED2	602826	6p22.1
?Testicular anomalies with or without congenital heart disease, 615542 (3)	GATA4, ASD2, VSD1, TACHD, TOF	600576	8p23.1
?Tetra-amelia syndrome 1, 273395 (3)	WNT3, INT4, TETAMS	165330	17q21.31-q21.32
?Thrombocytopenia 6, 616937 (3)	SRC, ASV, SRC1, THC6	190090	20q11.23
?Thrombocytopenia, Paris-Trousseau type (4)	TCPT	188025	11q23
?Thrombocytopenia, anemia, and myelofibrosis, 617441 (3)	G6B, C6orf25, THAMY	606520	6p21.33
?Thrombophilia 9 due to decreased release of tissue plasminogen (1)	THPH9	612348	8p12
?Tibial hemimelia (2)	THM	275220	8q24.1
?Townes-Brocks syndrome 2, 617466 (3)	DACT1, DPR1, DAPPER1, FRODO, TBS2	607861	14q23.1
?Trichothiodystrophy 9, nonphotosensitive, 619692 (3)	MARS1, MARS, MTRNS, METRS, ILLD, CMT2U, TTD9	156560	12q13.3
?Trichotillomania, 613229 (3)	SLITRK1, KIAA1910, TTM	609678	13q31.1
?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3)	KL, KLOTHO, HFTC3	604824	13q13.1
?Ullrich congenital muscular dystrophy 2, 616470 (3)	COL12A1, UCMD2, BTHLM2, EDSMYP	120320	6q13-q14.1
?Uncombable hair syndrome 2, 617251 (3)	TGM3, UHS2	600238	20p13
?Uncombable hair syndrome 3, 617252 (3)	TCHH, THH, THL, TRHY, UHS3	190370	1q21.3
?Urocanase deficiency, 276880 (3)	UROC1, UROCD	613012	3q21.3
?Uruguay faciocardiomusculoskeletal syndrome, 300280 (3)	FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B, FCMSU	300163	Xq26.3
?Usher syndrome, type 1M, 618632 (3)	ESPN, USH1M	606351	1p36.31
?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782 (3)	CALM3, LQT16, CPVT6	114183	19q13.32
?Vertebral hypersegmentation and orofacial anomalies, 619122 (3)	GDF11, BMP11, VHO	603936	12q13.2
?Visceral neuropathy, familial, 2, autosomal recessive, 619465 (3)	ERBB2, NGL, NEU, HER2, VSCN2	164870	17q12
?Visual impairment and progressive phthisis bulbi, 618283 (3)	MARK3, VIPB	602678	14q32.32-q32.33
?Vitreoretinopathy with phalangeal epiphyseal dysplasia, 619248 (3)	COL2A1	120140	12q13.11
?WHIM syndrome 2, 619407 (3)	CXCR2, IL8RB, IL8R2, WHIMS2	146928	2q35
?Webb-Dattani syndrome, 615926 (3)	ARNT2, WEDAS	606036	15q25.1
?Weill-Marchesani syndrome 3, recessive, 614819 (3)	LTBP2, LTBP3, GLC3D, MSPKA, WMS3	602091	14q24.3
?Weyers acrofacial dysostosis, 193530 (3)	EVC	604831	4p16.2
?Winchester syndrome, 277950 (3)	MMP14, WNCHRS	600754	14q11.2
?[Dysalbuminemic hypertriiodothyroninemia], 615999 (3)	ALB, ANALBA, FDAH, FDAHT	103600	4q13.3
?[Fructosuria, essential], 229800 (3)	KHK, FRUCTU	614058	2p23.3
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	NEFH, CMT2CC	162230	22q12.2
?{Deafness, autosomal recessive 26, modifier of}, 605429 (3)	EEF1AKNMT, METTL13, FEAT, KIAA0859, DFNB26M	617987	1q24.3
ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)	ARMC5, AIMAH2	615549	16p11.2
ACTH-independent macronodular adrenal hyperplasia, 219080 (3)	GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3	139320	20q13.32
ADULT syndrome, 103285 (3)	TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8	603273	3q28
AICA-ribosiduria due to ATIC deficiency, 608688 (3)	ATIC, PURH, AICAR	601731	2q35
AMED syndrome, digenic, 619151 (3)	ADH5, FDH, AMEDS, BMFS7	103710	4q23
AMME complex (4)	AMMEC, DELXq22.3, CXDELq22.3	300194	Xq22.3
Aarskog-Scott syndrome, 305400 (3)	FGD1, FGDY, AAS, MRXS16	300546	Xp11.22
Abdominal obesity-metabolic syndrome (2)	AOMS2	605572	17p12
Abdominal obesity-metabolic syndrome 1 (2)	AOMS1, SYNX	605552	3q27
Abdominal obesity-metabolic syndrome 3, 615812 (3)	DYRK1B, MIRK, AOMS3	604556	19q13.2
Abdominal obesity-metabolic syndrome 4, 618620 (3)	CELA2A, ELA2A, AOMS4	609443	1p36.21
Abetalipoproteinemia, 200100 (3)	MTTP	157147	4q23
Ablepharon-macrostomia syndrome, 200110 (3)	TWIST2, DERMO1, SETLSS, FFDD3, BBRSAY, AMS	607556	2q37.3
Acampomelic campomelic dysplasia, 114290 (3)	SOX9, CMD1, SRA1	608160	17q24.3
Acatalasemia, 614097 (3)	CAT	115500	11p13
Acetyl-CoA carboxylase deficiency, 613933 (1)	ACACA, ACAC, ACC1, ACACAD	200350	17q12
Achalasia-addisonianism-alacrimia syndrome, 231550 (3)	AAAS, AAA	605378	12q13.13
Acheiropody, 200500 (3)	LMBR1, ACHP, C7orf2, PPD2, THYP, LSS	605522	7q36.3
Achondrogenesis Ib, 600972 (3)	SLC26A2, DTD, DTDST, D5S1708, EDM4	606718	5q32
Achondrogenesis, type IA, 200600 (3)	TRIP11, TRIP230, CEV14, ACG1A, ODCD1	604505	14q32.12
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)	COL2A1	120140	12q13.11
Achondroplasia, 100800 (3)	FGFR3, ACH	134934	4p16.3
Achromatopsia 2, 216900 (3)	CNGA3, CNG3, ACHM2	600053	2q11.2
Achromatopsia 3, 262300 (3)	CNGB3, ACHM3, ACHM1	605080	8q21.3
Achromatopsia 4, 613856 (3)	GNAT2, ACHM4	139340	1p13.3
Achromatopsia 6, 610024 (3)	PDE6H, RCD3, ACHM6	601190	12p12.3
Achromatopsia 7, 616517 (3)	ATF6, ACHM7	605537	1q23.3
Acid-labile subunit, deficiency of, 615961 (3)	IGFALS, ALS, ACLSD	601489	16p13.3
Acne inversa, familial, 1, 142690 (3)	NCSTN	605254	1q23.2
Acne inversa, familial, 2, with or without Dowling-Degos disease, 613736 (3)	PSENEN, PEN2, ACNINV2	607632	19q13.12
Acrocallosal syndrome, 200990 (3)	KIF7, HLS2, ACLS, JBTS12, AGBK	611254	15q26.1
Acrocapitofemoral dysplasia, 607778 (3)	IHH, BDA1	600726	2q35
Acrodermatitis enteropathica, 201100 (3)	SLC39A4, ZIP4	607059	8q24.3
Acrodysostosis 1, with or without hormone resistance, 101800 (3)	PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1	188830	17q24.2
Acrodysostosis 2, with or without hormone resistance, 614613 (3)	PDE4D, DPDE3, ACRDYS2	600129	5q11.2-q12.1
Acrofacial dysostosis 1, Nager type, 154400 (3)	SF3B4, SF3B49, SAP49, AFD1	605593	1q21.2
Acrofacial dysostosis, Cincinnati type, 616462 (3)	POLR1A, RPA194, AFDCIN	616404	2p11.2
Acrokeratosis verruciformis, 101900 (3)	ATP2A2, ATP2B, DAR	108740	12q24.11
Acromegaloid features, overgrowth, cleft palate, and hernia (2)	AOCH	606049	Chr.11
Acromelic frontonasal dysostosis, 603671 (3)	ZSWIM6, KIAA1577, AFND, NEDMAGA	615951	5q12.1
Acromesomelic dysplasia 1, Maroteaux type, 602875 (3)	NPR2, ANPRB, AMD1, ECDM, SNSK	108961	9p13.3
Acromesomelic dysplasia 2A, 200700 (3)	GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B, DUPANS	601146	20q11.22
Acromesomelic dysplasia 2B, 228900 (3)	GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B, DUPANS	601146	20q11.22
Acromesomelic dysplasia 3, 609441 (3)	BMPR1B, ALK6, AMD3, BDA2, BDA1D	603248	4q22.3
Acromesomelic dysplasia 4, 619636 (3)	PRKG2, PRKGR2, AMD4, SMDP	601591	4q21.21
Acromicric dysplasia, 102370 (3)	FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS	134797	15q21.1
Acropectoral syndrome (2)	ACRPS	605967	7q36
Acropectorovertebral dysplasia (2)	ACRPV	102510	2q36
Acute insulin response (2)	AIR	601676	1p31
Acute myeloid leukemia, somatic, 601626 (3)	DNMT3A, TBRS, HESJAS	602769	2p23.3
Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)	ACADM, MCAD	607008	1p31.1
Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)	ACADS, SCAD	606885	12q24.31
Adams-Oliver syndrome 1, 100300 (3)	ARHGAP31, CDGAP, KIAA1204, AOS1	610911	3q13.32-q13.33
Adams-Oliver syndrome 2, 614219 (3)	DOCK6, KIAA1395, AOS2	614194	19p13.2
Adams-Oliver syndrome 3, 614814 (3)	RBPJ, RBPSUH, IGKJRB1, AOS3	147183	4p15.2
Adams-Oliver syndrome 4, 615297 (3)	EOGT, EOGT1, C3orf64, AOS4	614789	3p14.1
Adams-Oliver syndrome 5, 616028 (3)	NOTCH1, TAN1, AOS5, AOVD1	190198	9q34.3
Adams-Oliver syndrome 6, 616589 (3)	DLL4, AOS6	605185	15q15.1
Adenine phosphoribosyltransferase deficiency, 614723 (3)	APRT, APRTD	102600	16q24.3
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)	EGFR, NISBD2	131550	7p11.2
Adenocarcinoma of lung, somatic, 211980 (3)	BRAF, NS7	164757	7q34
Adenocarcinoma of lung, somatic, 211980 (3)	ERBB2, NGL, NEU, HER2, VSCN2	164870	17q12
Adenocarcinoma of lung, somatic, 211980 (3)	PRKN, PARK2, PDJ	602544	6q26
Adenocarcinoma, colonic, somatic (3)	RAD54L, HR54, HRAD54	603615	1p34.1
Adenoma, periampullary, somatic, 175100 (3)	APC, GS, FPC, BTPS2, DESMD	611731	5q22.2
Adenomas, multiple colorectal, 608456 (3)	MUTYH, MYH	604933	1p34.1
Adenomas, salivary gland pleomorphic, somatic, 181030 (3)	PLAG1, SGPA, PSA, SRS4	603026	8q12.1
Adenomatous polyposis coli, 175100 (3)	APC, GS, FPC, BTPS2, DESMD	611731	5q22.2
Adenosine deaminase deficiency, partial, 102700 (3)	ADA	608958	20q13.12
Adenosine triphosphate, elevated, of erythrocytes, 102900 (3)	PKLR, PK1	609712	1q22
Adenylosuccinase deficiency, 103050 (3)	ADSL	608222	22q13.1
Adermatoglyphia, 136000 (3)	SMARCAD1, KIAA1122, ETL1, HEL1, ADERM, BASNS, HRZ	612761	4q22.3
Adiponectin deficiency, 612556 (3)	ADIPOQ, APM1, GBP28, ADIPQTL1	605441	3q27.3
Adrenal adenoma, somatic (3)	MEN1	613733	11q13.1
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)	CYP11B1, P450C11, FHI	610613	8q24.3
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)	CYP21A2, CYP21, CA21H	613815	6p21.33
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3)	HSD3B2	613890	1p12
Adrenal hypoplasia, congenital, 300200 (3)	NR0B1, DAX1, AHC, AHX, SRXY2	300473	Xp21.2
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)	CYP11A1, P450SCC	118485	15q24.1
Adrenocortical insufficiency, 612964 (3)	NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8, SRXX4	184757	9q33.3
Adrenocortical tumor, somatic, (3)	PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1	188830	17q24.2
Adrenocorticotropic hormone deficiency, 201400 (3)	TBX19	604614	1q24.2
Adrenoleukodystrophy, 300100 (3)	ABCD1, ALD, AMN	300371	Xq28
Adrenomyeloneuropathy, adult, 300100 (3)	ABCD1, ALD, AMN	300371	Xq28
Adult i phenotype without cataract, 110800 (3)	GCNT2, Ii, CTRCT13	600429	6p24.3-p24.2
Advanced sleep-phase syndrome, familial, 2, 615224 (3)	CSNK1D, ASPS, FASPS2	600864	17q25.3
Afibrinogenemia, congenital, 202400 (3)	FGA	134820	4q31.3
Afibrinogenemia, congenital, 202400 (3)	FGB	134830	4q31.3
Afibrinogenemia, congenital, 202400 (3)	FGG	134850	4q32.1
Agammaglobulinemia 1, 601495 (3)	IGHM, MU, AGM1	147020	14q32.33
Agammaglobulinemia 10, autosomal dominant, 619707 (3)	SPI1, SFPI1, AGM10	165170	11p11.2
Agammaglobulinemia 2, 613500 (3)	IGLL1, IGO, IGL5, VPREB2, AGM2	146770	22q11.23
Agammaglobulinemia 3, 613501 (3)	CD79A, IGA	112205	19q13.2
Agammaglobulinemia 6, 612692 (3)	CD79B, IGB, B29, AGM6	147245	17q23.3
Agammaglobulinemia 8A, autosomal dominant, 616941 (3)	TCF3, E2A, AGM8A, AGM8B	147141	19p13.3
Agammaglobulinemia 8B, autosomal recessive, 619824 (3)	TCF3, E2A, AGM8A, AGM8B	147141	19p13.3
Agammaglobulinemia 9, autosomal recessive, 619693 (3)	SLC39A7, D6S2244E, HKE4, AGM9	601416	6p21.32
Agammaglobulinemia, X-linked 1, 300755 (3)	BTK, AGMX1, IMD1, XLA, AT, IGHD3	300300	Xq22.1
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, 618929 (3)	CDH2, NCAD, ARVD14, ACOGS	114020	18q12.1
Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)	SLC12A6, KCC3A, KCC3B, KCC3, ACCPN	604878	15q14
Agnathia-otocephaly complex, 202650 (3)	PRRX1, PMX1, PHOX1, AGOTC	167420	1q24.2
Aicardi syndrome (2)	AIC	304050	Xp22
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)	TREX1, AGS1, CRV, HERNS, RVCLS	606609	3p21.31
Aicardi-Goutieres syndrome 2, 610181 (3)	RNASEH2B, DLEU8, FLJ11712, AGS2	610326	13q14.3
Aicardi-Goutieres syndrome 3, 610329 (3)	RNASEH2C, AYP1, FLJ20974, AGS3	610330	11q13.1
Aicardi-Goutieres syndrome 4, 610333 (3)	RNASEH2A, RNHIA, AGS4	606034	19p13.13
Aicardi-Goutieres syndrome 5, 612952 (3)	SAMHD1, AGS5, DCIP, CHBL2	606754	20q11.23
Aicardi-Goutieres syndrome 6, 615010 (3)	ADAR, DRADA, DSH, DSRAD, IFI4, G1P1, AGS6	146920	1q21.3
Aicardi-Goutieres syndrome 7, 615846 (3)	IFIH1, MDA5, AGS7, SGMRT1, IMD95	606951	2q24.2
Aicardi-Goutieres syndrome 9, 619487 (3)	RNU7-1, RNU7, AGS9	617876	12p13.31
Al Kaissi syndrome, 617694 (3)	CDK10, PISSLRE, ALSAS	603464	16q24.3
Al-Gazali syndrome, 609465 (3)	B3GALT6, SEMDJL1, EDSSPD2, ALGAZ	615291	1p36.33
Al-Raqad syndrome, 616459 (3)	DCPS, HINT5, DCS1, ARS	610534	11q24.2
Alacrima, achalasia, and mental retardation syndrome, 615510 (3)	GMPPA, AAMR	615495	2q35
Alagille syndrome 1, 118450 (3)	JAG1, AGS1, AHD, DCHE, CMT2HH	601920	20p12.2
Alagille syndrome 2, 610205 (3)	NOTCH2, AGS2, HJCYS	600275	1p12
Aland Island eye disease, 300600 (3)	CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2	300110	Xp11.23
Alazami syndrome, 615071 (3)	LARP7, PIP7S, ALAZS	612026	4q25
Alazami-Yuan syndrome, 617126 (3)	TAF6, TAF2E, TAFII80, ALYUS	602955	7q22.1
Albinism, brown oculocutaneous, 203200 (3)	OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1	611409	15q12-q13.1
Albinism, oculocutaneous, type IA, 203100 (3)	TYR, SHEP3, CMM8, OCA1A, ATN	606933	11q14.3
Albinism, oculocutaneous, type IB, 606952 (3)	TYR, SHEP3, CMM8, OCA1A, ATN	606933	11q14.3
Albinism, oculocutaneous, type II, 203200 (3)	OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1	611409	15q12-q13.1
Albinism, oculocutaneous, type III, 203290 (3)	TYRP1, CAS2, GP75, SHEP11	115501	9p23
Albinism, oculocutaneous, type IV, 606574 (3)	SLC45A2, MATP, AIM1, SHEP5, OCA4	606202	5p13.2
Albinism, oculocutaneous, type V (2)	OCA5	615312	4q24
Albinism, oculocutaneous, type VI, 113750 (3)	SLC24A5, NCKX5, SHEP4, OCA6	609802	15q21.1
Albinism, oculocutaneous, type VII, 615179 (3)	LRMDA, C10orf11, OCA7	614537	10q22.2-q22.3
Albinism-deafness syndrome (2)	ADFN, ALDS	300700	Xq24-q26
Alcohol sensitivity, acute, 610251 (3)	ALDH2	100650	12q24.12
Aldosterone to renin ratio raised (3)	CYP11B2	124080	8q24.3
Aldosteronism, glucocorticoid-remediable, 103900 (3)	CYP11B1, P450C11, FHI	610613	8q24.3
Alexander disease, 203450 (3)	GFAP, ALXDRD	137780	17q21.31
Alkaptonuria, 203500 (3)	HGD, AKU	607474	3q13.33
Alkuraya-Kucinskas syndrome, 617822 (3)	KIAA1109, ALKKUCS	611565	4q27
Allan-Herndon-Dudley syndrome, 300523 (3)	SLC16A2, DXS128, XPCT	300095	Xq13.2
Alopecia areata 1 (2)	AA1	104000	18p11.3-p11.2
Alopecia areata 2 (2)	AA2	610753	16q11-q22
Alopecia universalis, 203655 (3)	HR, AU, MUHH1	602302	8p21.3
Alopecia, androgenetic, 1 (2)	AGA1, MPB	109200	3q26
Alopecia, androgenetic, 2 (2)	AGA2	300710	Xq11-q12
Alopecia, androgenetic, 3 (2)	AGA3	612421	20p11.22
Alopecia-intellectual disability syndrome 2 (2)	APMR2	610422	3q26.2-q26.31
Alopecia-intellectual disability syndrome 3 (2)	APMR3	613930	18q11.2-q12.2
Alopecia-intellectual disability syndrome 4, 618840 (3)	LSS, OSC, CTRCT44, HYPT14, APMR4	600909	21q22.3
Alpha-1-antichymotrypsin deficiency (3)	SERPINA3, AACT, ACT	107280	14q32.13
Alpha-2-plasmin inhibitor deficiency, 262850 (3)	PLI, SERPINF2	613168	17p13.3
Alpha-aminoadipic and alpha-ketoadipic aciduria, 204750 (3)	DHTKD1, KIAA1630, AAKAD, CMT2Q	614984	10p14
Alpha-fetoprotein deficiency, 615969 (3)	AFP, HPAFP, AFPD	104150	4q13.3
Alpha-methylacetoacetic aciduria, 203750 (3)	ACAT1	607809	11q22.3
Alpha-methylacyl-CoA racemase deficiency, 614307 (3)	AMACR, CBAS4, AMACRD	604489	5p13.2
Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3)	ATRX, XH2, XNP, SHS, SFM1, MRXHF1	300032	Xq21.1
Alpha-thalassemia/mental retardation syndrome, 301040 (3)	ATRX, XH2, XNP, SHS, SFM1, MRXHF1	300032	Xq21.1
Alpha-thalassemia/mental retardation syndrome, type 1 (4)	HBHR, ATR1	141750	16pter-p13.3
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)	RAG1	179615	11p12
Alport syndrome 1, X-linked, 301050 (3)	COL4A5, ATS1	303630	Xq22.3
Alport syndrome 2, autosomal recessive, 203780 (3)	COL4A3, ATS2, ATS3	120070	2q36.3
Alport syndrome 2, autosomal recessive, 203780 (3)	COL4A4, ATS2, BFH	120131	2q36.3
Alport syndrome 3, autosomal dominant, 104200 (3)	COL4A3, ATS2, ATS3	120070	2q36.3
Alstrom syndrome, 203800 (3)	ALMS1, ALSS, KIAA0328	606844	2p13.1
Alternating hemiplegia of childhood 1, 104290 (3)	ATP1A2, FHM2, MHP2, FARIMPD, DEE98	182340	1q23.2
Alternating hemiplegia of childhood 2, 614820 (3)	ATP1A3, DYT12, RDP, AHC2, CAPOS, DEE99	182350	19q13.2
Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3)	FOXF1, FKHL5, ACDMPV	601089	16q24.1
Alveolar soft-part sarcoma, 606243 (3)	ASPSCR1, RCC17, ASPL, ASPS	606236	17q25.3
Alzahrani-Kuwahara syndrome, 619268 (3)	SMG8, C17orf71, ALKUS	613175	17q22
Alzheimer disease 1, familial, 104300 (3)	APP, AAA, CVAP, AD1	104760	21q21.3
Alzheimer disease 17 (2)	AD17	615080	6p21.2
Alzheimer disease 2, 104310 (3)	APOE, AD2, LPG, LDLCQ5	107741	19q13.32
Alzheimer disease 6 (2)	AD6	605526	10q24
Alzheimer disease 8 (2)	AD8	607116	20p
Alzheimer disease, type 3, 607822 (3)	PSEN1, AD3, ACNINV3	104311	14q24.2
Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3)	PSEN1, AD3, ACNINV3	104311	14q24.2
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3)	PSEN1, AD3, ACNINV3	104311	14q24.2
Alzheimer disease-10 (2)	AD10	609636	7q36
Alzheimer disease-11 (2)	AD11	609790	9p22.1
Alzheimer disease-4, 606889 (3)	PSEN2, AD4, STM2, CMD1V	600759	1q42.13
Alzheimer disease-5 (2)	AD5	602096	12p11.23-q13.12
Alzheimer disease-7 (2)	AD7	606187	10p13
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, 601360 (3)	TBX4, ICPPS, PAPPAS	601719	17q23.2
Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3)	GPR68, OGR1, AI2A6	601404	14q32.11
Amelogenesis imperfecta, type 1E, 301200 (3)	AMELX, AMG, AIH1, AMGX, AI1E	300391	Xp22.2
Amelogenesis imperfecta, type IA, 104530 (3)	LAMB3, AI1A, JEB1B, JEB1A	150310	1q32.2
Amelogenesis imperfecta, type IB, 104500 (3)	ENAM, AIH2, AI1C	606585	4q13.3
Amelogenesis imperfecta, type IC, 204650 (3)	ENAM, AIH2, AI1C	606585	4q13.3
Amelogenesis imperfecta, type IF, 616270 (3)	AMBN, AI1F	601259	4q13.3
Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)	FAM20A, AIGFS, AI1G	611062	17q24.2
Amelogenesis imperfecta, type IH, 616221 (3)	ITGB6, AI1H	147558	2q24.2
Amelogenesis imperfecta, type IIA1, 204700 (3)	KLK4, EMSP1, PRSS17, AI2A1	603767	19q13.41
Amelogenesis imperfecta, type IIA2, 612529 (3)	MMP20, AI2A2	604629	11q22.2
Amelogenesis imperfecta, type IIA3, 613211 (3)	WDR72, AI2A3	613214	15q21.3
Amelogenesis imperfecta, type IIA4, 614832 (3)	ODAPH, C4orf26	614829	4q21.1
Amelogenesis imperfecta, type IIA5, 615887 (3)	SLC24A4, NCKX4, SHEP6, AI2A5	609840	14q32.12
Amelogenesis imperfecta, type IIIA, 130900 (3)	FAM83H, AI3A	611927	8q24.3
Amelogenesis imperfecta, type IIIC, 618386 (3)	RELT, TNFRSF19L, AI3C	611211	11q13.4
Amelogenesis imperfecta, type IJ, 617297 (3)	ACP4, ACPT, AI1J	606362	19q13.33
Amelogenesis imperfecta, type IV, 104510 (3)	DLX3, TDO, AI4	600525	17q21.33
Aminoacylase 1 deficiency, 609924 (3)	ACY1, ACY1D	104620	3p21.2
Amyloidosis, 3 or more types, 105200 (3)	APOA1, HPALP2	107680	11q23.3
Amyloidosis, Finnish type, 105120 (3)	GSN	137350	9q33.2
Amyloidosis, familial visceral, 105200 (3)	FGA	134820	4q31.3
Amyloidosis, hereditary, transthyretin-related, 105210 (3)	TTR, PALB	176300	18q12.1
Amyloidosis, primary localized cutaneous, 1, 105250 (3)	OSMR, OSMRB, PLCA1	601743	5p13.1
Amyloidosis, primary localized cutaneous, 3, 617920 (3)	GPNMB, PLCA3	604368	7p15.3
Amyloidosis, renal, 105200 (3)	LYZ	153450	12q15
Amyotrophic lateral sclerosis 1, 105400 (3)	SOD1, ALS1, STAHP	147450	21q22.11
Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3)	TARDBP, TDP43, ALS10	605078	1p36.22
Amyotrophic lateral sclerosis 11, 612577 (3)	FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP	609390	6q21
Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, 613435 (3)	OPTN, GLC1E, FIP2, HYPL, NRP, ALS12	602432	10p13
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3)	UBQLN2, PLIC2, CHAP1, ALS15	300264	Xp11.21
Amyotrophic lateral sclerosis 18, 614808 (3)	PFN1, ALS18	176610	17p13.2
Amyotrophic lateral sclerosis 19, 615515 (3)	ERBB4, HER4, ALS19	600543	2q34
Amyotrophic lateral sclerosis 2, juvenile, 205100 (3)	ALS2, ALSJ, PLSJ, IAHSP	606352	2q33.1
Amyotrophic lateral sclerosis 20, 615426 (3)	HNRNPA1, IBMPFD3, ALS20	164017	12q13.13
Amyotrophic lateral sclerosis 21, 606070 (3)	MATR3, MPD2, ALS21	164015	5q31.2
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 (3)	TUBA4A, TUBA1, ALS22	191110	2q35
Amyotrophic lateral sclerosis 23, 617839 (3)	ANXA11, ANX11, ALS23, IBMWMA	602572	10q22.3
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, 619133 (3)	TIA1, WDM, ALS26	603518	2p13.3
Amyotrophic lateral sclerosis 3 (2)	ALS3	606640	18q21
Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)	SETX, SCAN2, AOA2, ALS4	608465	9q34.13
Amyotrophic lateral sclerosis 5, juvenile, 602099 (3)	SPG11, KIAA1840, FLJ21439, ALS5, CMT2X	610844	15q21.1
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3)	FUS, TLS, ALS6, ETM4	137070	16p11.2
Amyotrophic lateral sclerosis 7 (2)	ALS7	608031	20p13
Amyotrophic lateral sclerosis 8, 608627 (3)	VAPBC, VAPB, VAPC, ALS8	605704	20q13.32
Amyotrophic lateral sclerosis 9, 611895 (3)	ANG, RNASE5, ALS9	105850	14q11.2
Amyotrophy, hereditary neuralgic, 162100 (3)	SEPT9, MSF, MSF1, NAPB	604061	17q25.3
Analbuminemia, 616000 (3)	ALB, ANALBA, FDAH, FDAHT	103600	4q13.3
Anauxetic dysplasia 1, 607095 (3)	RMRP, RMRPR, CHH	157660	9p13.3
Anauxetic dysplasia 2, 617396 (3)	POP1, ANXD2	602486	8q22.2
Anauxetic dysplasia 3, 618853 (3)	NEPRO, C3orf17, ANXD3	617089	3q13.2
Andersen syndrome, 170390 (3)	KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9	600681	17q24.3
Androgen insensitivity, 300068 (3)	AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1	313700	Xq12
Androgen insensitivity, partial, with or without breast cancer, 312300 (3)	AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1	313700	Xq12
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3)	GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP	305371	Xp11.23
Anemia, congenital dyserythropoietic, type IIIA, 105600 (3)	KIF23, KNSL5, MKLP1, CDAN3A	605064	15q23
Anemia, hemolytic, Rh-null, regulator type, 268150 (3)	RHAG, RH50A, OHST, RHNR	180297	6p12.3
Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)	NT5C3A, NT5C3, UMPH1, PSN1	606224	7p14.3
Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)	SLC11A2, NRAMP2, DCT1, DMT1, AHMIO1	600523	12q13.12
Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)	SPTB, SPH2, EL3, HS2	182870	14q23.3
Anemia, sideroblastic, 1, 300751 (3)	ALAS2, ANH1, ASB, XLEPP, XLSA, SIDBA1	301300	Xp11.21
Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)	SLC25A38, SIDBA2	610819	3p22.1
Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3)	GLRX5, C14orf87, PRO1238, FLB4739, PRSA, SIDBA3, SPAHGC	609588	14q32.13
Anemia, sideroblastic, 4, 182170 (3)	HSPA9, HSPA9B, MOT2, GRP75, EVPLS, SIDBA4	600548	5q31.2
Anemia, sideroblastic, with ataxia, 301310 (3)	ABCB7, ABC7, ASAT	300135	Xq13.3
Aneurysm, intracranial berry, 1 (2)	ANIB1	105800	7q11.2
Aneurysm, intracranial berry, 11 (2)	ANIB11	614252	8p22
Aneurysm, intracranial berry, 2 (2)	ANIB2	608542	19q13
Aneurysm, intracranial berry, 3 (2)	ANIB3	609122	1p36.13-p34.3
Aneurysm, intracranial berry, 4 (2)	ANIB4	610213	5p15.2-p14.3
Aneurysm, intracranial berry, 5 (2)	ANIB5	300870	Xp22
Aneurysm, intracranial berry, 7 (2)	ANIB7	612161	11q24-q25
Aneurysm, intracranial berry, 8 (2)	ANIB8	612162	14q23
Aneurysmal bone cysts (2)	ANBC	606179	16q22
Angelman syndrome, 105830 (3)	UBE3A, ANCR	601623	15q11.2
Angio serpiginosum (2)	AGSPX	300652	Xp11.3-q12
Angioedema, hereditary, 1 and 2, 106100 (3)	C1NH, HAE1, HAE2, SERPING1	606860	11q12.1
Angioedema, hereditary, 3, 610618 (3)	F12, HAF, HAE3	610619	5q35.3
Angioedema, hereditary, 4, 619360 (3)	PLG, HAE4	173350	6q26
Angioedema, hereditary, 6, 619363 (3)	KNG1, KNG, HAE6	612358	3q27.3
Angiofibroma, somatic (3)	MEN1	613733	11q13.1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)	COL4A1, BSVD1, HANAC, ICH, BSVD, RATOR, PADMAL	120130	13q34
Aniridia, 106210 (3)	PAX6, AN2, MGDA, FVH1, ASGD5	607108	11p13
Anisomastia (2)	ANMA	605746	16q13-q21
Anonychia congenita, 206800 (3)	RSPO4, CRISTIN4	610573	20p13
Anosmia, isolated congenital (2)	ANIC	107200	18p11.23-q12.2
Anterior segment anomalies with or without cataract, 602588 (3)	EYA1, BOR, BOS1, OFC1	601653	8q13.3
Anterior segment dysgenesis 1, multiple subtypes, 107250 (3)	PITX3, CTPP4, CTRCT11, ASGD1	602669	10q24.32
Anterior segment dysgenesis 2, multiple subtypes, 610256 (3)	FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11	601094	1p33
Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)	FOXC1, FKHL7, FREAC3, IRID1, RIEG3, ASGD3	601090	6p25.3
Anterior segment dysgenesis 4, 137600 (3)	PITX2, IDG2, RIEG1, RGS, IGDS2, ASGD4	601542	4q25
Anterior segment dysgenesis 5, multiple subtypes, 604229 (3)	PAX6, AN2, MGDA, FVH1, ASGD5	607108	11p13
Anterior segment dysgenesis 6, multiple subtypes, 617315 (3)	CYP1B1, GLC3A, ASGD6	601771	2p22.2
Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)	PXDN, D2S448E, KIAA0230, PRG2, PXN, COPOA, ASGD7	605158	2p25.3
Anterior segment dysgenesis 8, 617319 (3)	CPAMD8, KIAA1283, ASGD8	608841	19p13.11
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)	POR	124015	7q11.23
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Aortic aneurysm, familial abdominal 1 (2)	AAA1, AAA	100070	19q13
Aortic aneurysm, familial abdominal 2 (2)	AAA2	609782	4q31
Aortic aneurysm, familial abdominal, 4 (2)	AAA4	614375	12q13.3
Aortic aneurysm, familial thoracic 1 (2)	AAT1, FAA1	607086	11q23.3-q24
Aortic aneurysm, familial thoracic 10, 617168 (3)	LOX, AAT10	153455	5q23.1
Aortic aneurysm, familial thoracic 12, 619825 (3)	THSD4, ADAMTSL6, AAT12	614476	15q23
Aortic aneurysm, familial thoracic 2 (2)	AAT2, FAA2	607087	5q13-q14
Aortic aneurysm, familial thoracic 4, 132900 (3)	MYH11, AAT4, FAA4, VSCM2	160745	16p13.11
Aortic aneurysm, familial thoracic 6, 611788 (3)	ACTA2, ACTSA, AAT6, MYMY5	102620	10q23.31
Aortic aneurysm, familial thoracic 7, 613780 (3)	MYLK, MLCK, AAT7, MMIHS1	600922	3q21.1
Aortic aneurysm, familial thoracic 8, 615436 (3)	PRKG1, PRKG1B, PRKGR1B, AAT8	176894	10q11.23-q21.1
Aortic aneurysm, familial thoracic 9, 616166 (3)	MFAP5, MAGP2, AAT9	601103	12p13.31
Aortic valve disease 1, 109730 (3)	NOTCH1, TAN1, AOS5, AOVD1	190198	9q34.3
Aortic valve disease 2, 614823 (3)	SMAD6, MADH6, AOVD2	602931	15q22.31
Aortic valve disease 3, 618496 (3)	ROBO4, AOVD3	607528	11q24.2
Apert syndrome, 101200 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Aphasia, primary progressive, 607485 (3)	GRN, CLN11	138945	17q21.31
Aplasia of lacrimal and salivary glands, 180920 (3)	FGF10	602115	5p12
Aplastic anemia, 609135 (3)	NBN, NBS1	602667	8q21.3
Aplastic anemia, 609135 (3)	PRF1, HPLH2, FLH2	170280	10q22.1
Apolipoprotein A-II deficiency (3)	APOA2	107670	1q23.3
Apolipoprotein C-III deficiency, 614028 (3)	APOC3, HALP2	107720	11q23.3
Apparent mineralocorticoid excess, 218030 (3)	HSD11B2, HSD11K, AME	614232	16q22.1
Arboleda-Tham syndrome, 616268 (3)	KAT6A, MYST3, MOZ, ZNF220, ARTHS	601408	8p11.21
Argininemia, 207800 (3)	ARG1	608313	6q23.2
Argininosuccinic aciduria, 207900 (3)	ASL	608310	7q11.21
Aromatase deficiency, 613546 (3)	CYP19A1, CYP19, ARO	107910	15q21.2
Aromatase excess syndrome, 139300 (3)	CYP19A1, CYP19, ARO	107910	15q21.2
Aromatic L-amino acid decarboxylase deficiency, 608643 (3)	DDC	107930	7p12.2-p12.1
Arrhythmogenic right ventricular dysplasia 1, 107970 (3)	TGFB3, ARVD1, RNHF, LDS5	190230	14q24.3
Arrhythmogenic right ventricular dysplasia 10, 610193 (3)	DSG2, ARVD10, ARVC10, CMD1BB	125671	18q12.1
Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3)	DSC2, DSC3, ARVD11	125645	18q12.1
Arrhythmogenic right ventricular dysplasia 11, 610476 (3)	DSC2, DSC3, ARVD11	125645	18q12.1
Arrhythmogenic right ventricular dysplasia 2, 600996 (3)	RYR2, VTSIP, ARVD2, ARVC2, VACRDS	180902	1q43
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, 604400 (3)	TMEM43, ARVD5, ARVC5, EDMD7, AUNA3	612048	3p25.1
Arrhythmogenic right ventricular dysplasia 6 (2)	ARVD6	604401	10p14-p12
Arrhythmogenic right ventricular dysplasia 8, 607450 (3)	DSP, KPPS2, PPKS2, DCWHKTA	125647	6p24.3
Arrhythmogenic right ventricular dysplasia 9, 609040 (3)	PKP2, ARVD9	602861	12p11.21
Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)	CTNNA3, ARVD13	607667	10q21.3
Arrhythmogenic right ventricular dysplasia, familial, 14, 618920 (3)	CDH2, NCAD, ARVD14, ACOGS	114020	18q12.1
Arterial calcification, generalized, of infancy, 1, 208000 (3)	ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED	173335	6q23.2
Arterial calcification, generalized, of infancy, 2, 614473 (3)	ABCC6, ARA, ABC34, MLP1, PXE, GACI2	603234	16p13.11
Arterial tortuosity syndrome, 208050 (3)	SLC2A10, GLUT10, ATORS	606145	20q13.12
Arteriovenous malformation of the brain, somatic, 108010 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	190070	12p12.1
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, 617468 (3)	LGI4, AMC1	608303	19q13.12
Arthrogryposis multiplex congenita 3, myogenic type, 618484 (3)	SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4, AMC3	608441	6q25.2
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, 618766 (3)	SCYL2, CVAK104, KIAA1360, AMC4	616365	12q23.1
Arthrogryposis multiplex congenita 5, 618947 (3)	TOR1A, DYT1, AMC5	605204	9q34.11
Arthrogryposis multiplex congenita 6, 619334 (3)	NEB, NEM2, AMC6	161650	2q23.3
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265 (3)	PPP3CA, PPP2B, CALNA, CNA1, DEE91, ACCIID	114105	4q24
Arthrogryposis, distal, type 10 (2)	DA10	187370	2q31.3-q32.1
Arthrogryposis, distal, type 1A, 108120 (3)	TPM2, TMSB, AMCD1, DA1, DA2B4, NEM4	190990	9p13.3
Arthrogryposis, distal, type 1B, 614335 (3)	MYBPC1, LCCS4, MYOTREM	160794	12q23.2
Arthrogryposis, distal, type 1C, 619110 (3)	MYL11, MLC2B, MRLC2, MYLPF, DA1C	617378	16p11.2
Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700 (3)	MYH3, DA2A, DA2B3, DA8, CPSFS1A, CPSFS1B	160720	17p13.1
Arthrogryposis, distal, type 2B1, 601680 (3)	TNNI2, AMCD2B, DA2B1, FSSV	191043	11p15.5
Arthrogryposis, distal, type 2B2, 618435 (3)	TNNT3, AMCD2B, DA2B2, FSSV	600692	11p15.5
Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436 (3)	MYH3, DA2A, DA2B3, DA8, CPSFS1A, CPSFS1B	160720	17p13.1
Arthrogryposis, distal, type 2B4, 108120 (3)	TPM2, TMSB, AMCD1, DA1, DA2B4, NEM4	190990	9p13.3
Arthrogryposis, distal, type 3, 114300 (3)	PIEZO2, FAM38B, DA5, DA3, MWKS, DAIPT	613629	18p11.22-p11.21
Arthrogryposis, distal, type 5, 108145 (3)	PIEZO2, FAM38B, DA5, DA3, MWKS, DAIPT	613629	18p11.22-p11.21
Arthrogryposis, distal, type 5D, 615065 (3)	ECEL1, XCE, DA5D	605896	2q37.1
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)	PIEZO2, FAM38B, DA5, DA3, MWKS, DAIPT	613629	18p11.22-p11.21
Arthrogryposis, impaired intellectual development, and seizures, 615553 (3)	SLC35A3, AMRS	605632	1p21.2
Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)	VPS33B	608552	15q26.1
Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)	VIPAS39, VIPAR, SPE39, C14orf133	613401	14q24.3
Arts syndrome, 301835 (3)	PRPS1, CMTX5, DFNX1, DFN2	311850	Xq22.3
Asparagine synthetase deficiency, 615574 (3)	ASNS, ASNSD	108370	7q21.3
Aspartate aminotransferase, serum level of, QTL1, 614419 (3)	GOT1, ASTQTL1	138180	10q24.2
Aspartylglucosaminuria, 208400 (3)	AGA	613228	4q34.3
Asplenia, isolated congenital, 271400 (3)	RPSA, LAMR1, LAMBR, ICAS	150370	3p22.1
Asthma and nasal polyps, 208550 (3)	TBX21, TBET, IMD88	604895	17q21.32
Ataxia with isolated vitamin E deficiency, 277460 (3)	TTPA, TTP1, AVED	600415	8q12.3
Ataxia, cerebellar, Cayman type, 601238 (3)	ATCAY, CLAC, KIAA1872	608179	19p13.3
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)	APTX, AOA, AOA1	606350	9p21.1
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset, 619352 (3)	POU4F1, BRN3A, ATITHS	601632	13q31.1
Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)	FLVCR1, AXPC1, PCARP	609144	1q32.3
Ataxia, sensory, 1, autosomal dominant, 608984 (3)	RNF170, SNAX1, SPG85	614649	8p11.21
Ataxia-oculomotor apraxia 3, 615217 (3)	PIK3R5, p101	611317	17p13.1
Ataxia-oculomotor apraxia 4, 616267 (3)	PNKP, PNK, MCSZ, AOA4, CMT2B2	605610	19q13.33
Ataxia-pancytopenia syndrome, 159550 (3)	SAMD9L, ATXPC, M7MLS1, SCA49	611170	7q21.2
Ataxia-telangiectasia, 208900 (3)	ATM, ATA, AT1	607585	11q22.3
Ataxia-telangiectasia-like disorder 1, 604391 (3)	MRE11A, MRE11, ATLD	600814	11q21
Atelosteogenesis, type I, 108720 (3)	FLNB, SCT, AOI, LRS1	603381	3p14.3
Atelosteogenesis, type II, 256050 (3)	SLC26A2, DTD, DTDST, D5S1708, EDM4	606718	5q32
Atelosteogenesis, type III, 108721 (3)	FLNB, SCT, AOI, LRS1	603381	3p14.3
Athabaskan brainstem dysgenesis syndrome, 601536 (3)	HOXA1, HOX1F, BSAS	142955	7p15.2
Atransferrinemia, 209300 (3)	TF, TFQTL1	190000	3q22.1
Atrial fibrillation, familial, 1 (2)	ATFB1	608583	10q22-q24
Atrial fibrillation, familial, 10, 614022 (3)	SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2	600163	3p22.2
Atrial fibrillation, familial, 11, 614049 (3)	GJA5, CX40, ATFB11	121013	1q21.2
Atrial fibrillation, familial, 13, 615377 (3)	SCN1B, GEFSP1, BRGDA5, ATFB13, DEE52	600235	19q13.11
Atrial fibrillation, familial, 14, 615378 (3)	SCN2B, ATFB14	601327	11q23.3
Atrial fibrillation, familial, 16, 613120 (3)	SCN3B, SCNB3, BRGDA7, ATFB16	608214	11q24.1
Atrial fibrillation, familial, 17, 611819 (3)	SCN4B, LQT10, ATFB17	608256	11q23.3
Atrial fibrillation, familial, 2 (2)	ATFB2	608988	6q14-q16
Atrial fibrillation, familial, 3, 607554 (3)	KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2	607542	11p15.5-p15.4
Atrial fibrillation, familial, 4, 611493 (3)	KCNE2, MIRP1, LQT6, ATFB4	603796	21q22.11
Atrial fibrillation, familial, 6, 612201 (3)	NPPA, PND, ANP, ATFB6, ATRST2	108780	1p36.22
Atrial fibrillation, familial, 7, 612240 (3)	KCNA5, ATFB7	176267	12p13.32
Atrial fibrillation, familial, 8 (2)	ATFB8	613055	16q22
Atrial fibrillation, familial, 9, 613980 (3)	KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9	600681	17q24.3
Atrial septal defect 1 (2)	ASD1	108800	5p
Atrial septal defect 2, 607941 (3)	GATA4, ASD2, VSD1, TACHD, TOF	600576	8p23.1
Atrial septal defect 3, 614089 (3)	MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3	160710	14q11.2
Atrial septal defect 4, 611363 (3)	TBX20, ASD4	606061	7p14.2
Atrial septal defect 5, 612794 (3)	ACTC1, CMD1R, CMH11, ASD5, LVNC4	102540	15q14
Atrial septal defect 6, 613087 (3)	TLL1, TLL, ASD6	606742	4q32.3
Atrial septal defect 7, with or without AV conduction defects, 108900 (3)	NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2	600584	5q35.1
Atrial septal defect 8, 614433 (3)	CITED2, MRG1, P35SRJ, VSD2, ASD8	602937	6q24.1
Atrial septal defect 9, 614475 (3)	GATA6, AVSD5, ASD9, PACHD	601656	18q11.2
Atrial standstill 2, 615745 (3)	NPPA, PND, ANP, ATFB6, ATRST2	108780	1p36.22
Atrial standstill, digenic (GJA5/SCN5A), 108770 (3)	GJA5, CX40, ATFB11	121013	1q21.2
Atrichia with papular lesions, 209500 (3)	HR, AU, MUHH1	602302	8p21.3
Atrioventricular septal defect 3, 600309 (3)	GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP3	121014	6q22.31
Atrioventricular septal defect 4, 614430 (3)	GATA4, ASD2, VSD1, TACHD, TOF	600576	8p23.1
Atrioventricular septal defect 5, 614474 (3)	GATA6, AVSD5, ASD9, PACHD	601656	18q11.2
Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)	CRELD1, AVSD2	607170	3p25.3
Au-Kline syndrome, 616580 (3)	HNRNPK, HNRPK, AUKS	600712	9q21.32
Auditory neuropathy and optic atrophy, 617717 (3)	FDXR, ADXR, ANOA	103270	17q25.1
Auditory neuropathy, autosomal dominant 1, 609129 (3)	DIAPH3, DIA2, DRF3, AUNA1, NSDAN	614567	13q21.2
Auditory neuropathy, autosomal dominant 3, 619832 (3)	TMEM43, ARVD5, ARVC5, EDMD7, AUNA3	612048	3p25.1
Auditory neuropathy, autosomal recessive, 1, 601071 (3)	OTOF, DFNB9, NSRD9, AUNB1	603681	2p23.3
Aural atresia, congenital, 607842 (3)	TSHZ1, TSH1, CAA	614427	18q22.3
Auriculocondylar syndrome 1, 602483 (3)	GNAI3, ARCND1	139370	1p13.3
Auriculocondylar syndrome 2, 614669 (3)	PLCB4, ARCND2	600810	20p12.3-p12.2
Auriculocondylar syndrome 3, 615706 (3)	EDN1, ARCND3, QME, HDLCQ7	131240	6p24.1
Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3)	STAT3, APRF, HIES, ADMIO1	102582	17q21.2
Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3)	ZAP70, SRK, ADMIO2, IMD48	176947	2q11.2
Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)	ITCH, AIP4, NAPP1, ADMFD	606409	20q11.22
Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)	FAS, TNFRSF6, APT1, CD95, ALPS1A	134637	10q23.31
Autoimmune lymphoproliferative syndrome, type IB, 601859 (3)	FASLG, TNFSF6, APT1LG1, FASL, ALPS1B	134638	1q24.3
Autoimmune lymphoproliferative syndrome, type II, 603909 (3)	CASP10, MCH4, ALPS2	601762	2q33.1
Autoimmune lymphoproliferative syndrome, type III, 615559 (3)	PRKCD, CVID9, ALPS3	176977	3p21.1
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)	AIRE, APECED, APS1	607358	21q22.3
Autoinflammation with arthritis and dyskeratosis, 617388 (3)	NLRP1, NALP1, KIAA0926, DEFCAP, CARD7, VAMAS1, MSPC, AIADK, JRRP	606636	17p13.2
Autoinflammation with episodic fever and lymphadenopathy, 618852 (3)	RIPK1, RIP1, RIP, IMD57, AIEFL	603453	6p25.2
Autoinflammation with infantile enterocolitis, 616050 (3)	NLRC4, CARD12, CLAN, IPAF, AIFEC, FCAS4	606831	2p22.3
Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)	PLCG2, FCAS3, APLAID	600220	16q23.3
Autoinflammation, immune dysregulation, and eosinophilia, 618999 (3)	JAK1, AIIDE	147795	1p31.3
Autoinflammation, panniculitis, and dermatosis syndrome, 617099 (3)	OTULIN, FAM105B, GUM, AIPDS	615712	5p15.2
Autoinflammatory syndrome, familial, Behcet-like 1, 616744 (3)	TNFAIP3, A20, OTUD7C, AIFBL1	191163	6q23.3
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2, 301074 (3)	ELF4, MEF, AIFBL2	300775	Xq26.1
Autoinflammatory syndrome, familial, with or without immunodeficiency, 619375 (3)	SOCS1, SSI1, CIS1, CISH1, AISIMD	603597	16p13.13
Autoinflammatory-pancytopenia syndrome, 619858 (3)	DNASE2, DNL, AIPCS	126350	19p13.13
Autonomic nervous system dysfunction (3)	DRD4	126452	11p15.5
Avascular necrosis of the femoral head, 608805 (3)	COL2A1	120140	12q13.11
Axenfeld-Rieger syndrome, type 1, 180500 (3)	PITX2, IDG2, RIEG1, RGS, IGDS2, ASGD4	601542	4q25
Axenfeld-Rieger syndrome, type 3, 602482 (3)	FOXC1, FKHL7, FREAC3, IRID1, RIEG3, ASGD3	601090	6p25.3
Ayme-Gripp syndrome, 601088 (3)	MAF, CCA4, CTRCT21, AYGRP	177075	16q23.2
B-cell expansion with NFKB and T-cell anergy, 616452 (3)	CARD11, CARMA1, BIMP3, PPBL, BENTA, IMD11A	607210	7p22.2
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, 609296 (3)	TOP2B, BILU	126431	3p24.2
B-cell non-Hodgkin lymphoma, high-grade (3)	BCL7A, BCL7	601406	12q24.31
BDV syndrome, 619326 (3)	CPE, BDVS	114855	4q32.3
Bachmann-Bupp syndrome, 619075 (3)	ODC1, BABS	165640	2p25.1
Bainbridge-Ropers syndrome, 615485 (3)	ASXL3, KIAA1713, BRPS	615115	18q12.1
Baker-Gordon syndrome, 618218 (3)	SYT1, BAGOS	185605	12q21.2
Baller-Gerold syndrome, 218600 (3)	RECQL4, RTS, RECQ4	603780	8q24.3
Bamforth-Lazarus syndrome, 241850 (3)	FOXE1, FKHL15, TITF2, TTF2, NMTC4	602617	9q22.33
Band heterotopia, 600348 (3)	EML1, EMAPL, EMAP, BH	602033	14q32.2
Baraitser-Winter syndrome 1, 243310 (3)	ACTB, BRWS1	102630	7p22.1
Baraitser-Winter syndrome 2, 614583 (3)	ACTG1, DFNA20, DFNA26, BRWS2	102560	17q25.3
Baralle-Macken syndrome, 619255 (3)	COPB1, COPB, BARMACS	600959	11p15.2
Barber-Say syndrome, 209885 (3)	TWIST2, DERMO1, SETLSS, FFDD3, BBRSAY, AMS	607556	2q37.3
Bardet-Biedl syndrome 1, 209900 (3)	BBS1	209901	11q13.2
Bardet-Biedl syndrome 10, 615987 (3)	BBS10, C12orf58, FLJ23560	610148	12q21.2
Bardet-Biedl syndrome 12, 615989 (3)	BBS12, FLJ35630, C4orf24	610683	4q27
Bardet-Biedl syndrome 13, 615990 (3)	MKS1, MKS, BBS13, JBTS28	609883	17q22
Bardet-Biedl syndrome 16, 615993 (3)	SDCCAG8, CCCAP, SLSN7, BBS16	613524	1q43-q44
Bardet-Biedl syndrome 17, 615994 (3)	LZTFL1, BBS17	606568	3p21.31
Bardet-Biedl syndrome 19, 615996 (3)	IFT27, RABL4, BBS19	615870	22q12.3
Bardet-Biedl syndrome 2, 615981 (3)	BBS2, RP74	606151	16q13
Bardet-Biedl syndrome 20, 619471 (3)	IFT172, SLB, KIAA1179, SRTD10, RP71, BBS20	607386	2p23.3
Bardet-Biedl syndrome 21, 617406 (3)	CFAP418, C8orf37, CORD16, RP64, BBS21	614477	8q22.1
Bardet-Biedl syndrome 3, 600151 (3)	ARL6, BBS3, RP55	608845	3q11.2
Bardet-Biedl syndrome 4, 615982 (3)	BBS4	600374	15q24.1
Bardet-Biedl syndrome 5, 615983 (3)	BBS5	603650	2q31.1
Bardet-Biedl syndrome 6, 605231 (3)	MKKS, HMCS, KMS, MKS, BBS6	604896	20p12.2
Bardet-Biedl syndrome 7, 615984 (3)	BBS7	607590	4q27
Bardet-Biedl syndrome 8, 615985 (3)	TTC8, BBS8, RP51	608132	14q31.3
Bardet-Biedl syndrome 9, 615986 (3)	PTHB1, BBS9	607968	7p14.3
Bare lymphocyte syndrome, type I, 604571 (3)	TAP1, ABCB2, RING4, PSF1	170260	6p21.32
Bare lymphocyte syndrome, type I, 604571 (3)	TAPBP, TPSN	601962	6p21.32
Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)	TAP2, ABCB3, PSF2, RING11	170261	6p21.32
Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)	CIITA, MHC2TA, C2TA	600005	16p13.13
Bare lymphocyte syndrome, type II, complementation group C, 209920 (3)	RFX5	601863	1q21.3
Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)	RFXAP	601861	13q13.3
Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)	RFX5	601863	1q21.3
Barrett esophagus/esophageal adenocarcinoma, 614266 (3)	ASCC1, p50, SMABF2	614215	10q22.1
Barrett esophagus/esophageal adenocarcinoma, 614266 (3)	CTHRC1	610635	8q22.3
Barrett esophagus/esophageal adenocarcinoma, 614266 (3)	MSR1, SCARA1, SRA	153622	8p22
Bart-Pumphrey syndrome, 149200 (3)	GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID, BAPS	121011	13q12.11
Barth syndrome, 302060 (3)	TAFAZZIN, TAZ, EFE2, BTHS, CMD3A, LVNCX	300394	Xq28
Bartter syndrome, type 1, 601678 (3)	SLC12A1, NKCC2	600839	15q21.1
Bartter syndrome, type 2, 241200 (3)	KCNJ1, ROMK1	600359	11q24.3
Bartter syndrome, type 3, 607364 (3)	CLCNKB	602023	1p36.13
Bartter syndrome, type 4a, 602522 (3)	BSND	606412	1p32.3
Bartter syndrome, type 4b, digenic, 613090 (3)	CLCNKA	602024	1p36.13
Bartter syndrome, type 4b, digenic, 613090 (3)	CLCNKB	602023	1p36.13
Bartter syndrome, type 5, antenatal, transient, 300971 (3)	MAGED2, MAGED, BARTS5	300470	Xp11.21
Basal cell carcinoma, somatic, 605462 (3)	PTCH1, NBCCS, BCNS, HPE7	601309	9q22.32
Basal cell carcinoma, somatic, 605462 (3)	PTCH2	603673	1p34.1
Basal cell carcinoma, somatic, 605462 (3)	RASA1, GAP, CMAVM1, PKWS	139150	5q14.3
Basal cell carcinoma, somatic, 605462 (3)	SMO, SMOH, CRJS, PHLS	601500	7q32.1
Basal cell nevus syndrome, 109400 (3)	PTCH1, NBCCS, BCNS, HPE7	601309	9q22.32
Basal cell nevus syndrome, 109400 (3)	PTCH2	603673	1p34.1
Basal cell nevus syndrome, 109400 (3)	SUFU, SUFUXL, SUFUH, JBTS32	607035	10q24.32
Basal ganglia calcification, idiopathic, 1, 213600 (3)	SLC20A2, MLVAR, GLVR2, IBGC1, IBGC2	158378	8p11.21
Basal ganglia calcification, idiopathic, 4, 615007 (3)	PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS	173410	5q32
Basal ganglia calcification, idiopathic, 5, 615483 (3)	PDGFB, SIS, IBGC5	190040	22q13.1
Basal ganglia calcification, idiopathic, 6, 616413 (3)	XPR1, SYG1, IBGC6	605237	1q25.3
Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317 (3)	MYORG, NET37, KIAA1161, IBGC7	618255	9p13.3
Basal ganglia calcification, idiopathic, 8, autosomal recessive, 618824 (3)	JAM2, VEJAM, IBGC8	606870	21q21.3
Basal laminar drusen, 126700 (3)	CFH, HF1, HUS, ARMD4, AHUS1	134370	1q31.3
Basan syndrome, 129200 (3)	SMARCAD1, KIAA1122, ETL1, HEL1, ADERM, BASNS, HRZ	612761	4q22.3
Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)	MED25, PTOV2, ARC92, BVSYS	610197	19q13.33
Basilicata-Akhtar syndrome, 301032 (3)	MSL3, MSL3L1, MRXSBA	300609	Xp22.2
Bazex syndrome (2)	BZX	301845	Xq24-q27
Beare-Stevenson cutis gyrata syndrome, 123790 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Beaulieu-Boycott-Innes syndrome, 613680 (3)	THOC6, FSAP35, BBIS	615403	16p13.3
Beck-Fahrner syndrome, 618798 (3)	TET3, KIAA0401, BEFAHRS	613555	2p13.1
Becker muscular dystrophy, 300376 (3)	DMD, BMD, CMD3B	300377	Xp21.2-p21.1
Beckwith-Wiedemann syndrome, 130650 (3)	CDKN1C, KIP2, BWS, IMAGE	600856	11p15.4
Beckwith-Wiedemann syndrome, 130650 (3)	ICR1, BWS, WT2, SRS1	616186	11p15.5
Beckwith-Wiedemann syndrome, 130650 (3)	KCNQ1OT1, LIT1	604115	11p15.5
Behr syndrome, 210000 (3)	OPA1, NTG, NPG, BERHS, MTDPS14	605290	3q29
Bent bone dysplasia syndrome, 614592 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Bernard-Soulier syndrome, type A1 (recessive), 231200 (3)	GP1BA, BSS, BDPLT1, VWDP, BDPLT3	606672	17p13.2
Bernard-Soulier syndrome, type A2 (dominant), 153670 (3)	GP1BA, BSS, BDPLT1, VWDP, BDPLT3	606672	17p13.2
Bernard-Soulier syndrome, type B, 231200 (3)	GP1BB, BS, BDPLT1	138720	22q11.21
Bernard-Soulier syndrome, type C, 231200 (3)	GP9	173515	3q21.3
Bestrophinopathy, autosomal recessive, 611809 (3)	BEST1, VMD2, ARB, RP50	607854	11q12.3
Beta-2-adrenoreceptor agonist, reduced response to (3)	ADRB2	109690	5q32
Beta-ureidopropionase deficiency, 613161 (3)	UPB1, BUP1	606673	22q11.23
Bethlem myopathy 1, 158810 (3)	COL6A1, BTHLM1, UCHMD1	120220	21q22.3
Bethlem myopathy 1, 158810 (3)	COL6A2, BTHLM1, UCMD1	120240	21q22.3
Bethlem myopathy 1, 158810 (3)	COL6A3, DYT27, BTHLM1, UCMD1	120250	2q37.3
Bethlem myopathy 2, 616471 (3)	COL12A1, UCMD2, BTHLM2, EDSMYP	120320	6q13-q14.1
Bietti crystalline corneoretinal dystrophy, 210370 (3)	CYP4V2, BCD	608614	4q35.1-q35.2
Bifid nose with or without anorectal and renal anomalies, 608980 (3)	FREM1, C9orf154, BNAR, MOTA, TRIGNO2	608944	9p22.3
Bile acid conjugation defect 1, 619232 (3)	BAAT, HCHO, BACD1	602938	9q31.1
Bile acid synthesis defect, congenital, 1, 607765 (3)	HSD3B7, CBAS1	607764	16p11.2
Bile acid synthesis defect, congenital, 2, 235555 (3)	AKR1D1, SRD5B1, CBAS2	604741	7q33
Bile acid synthesis defect, congenital, 3, 613812 (3)	CYP7B1, CBAS3, SPG5A	603711	8q12.3
Bile acid synthesis defect, congenital, 4, 214950 (3)	AMACR, CBAS4, AMACRD	604489	5p13.2
Bile acid synthesis defect, congenital, 6, 617308 (3)	ACOX2, BRCACOX, CBAS6	601641	3p14.3
Biliary cirrhosis, primary, 1 (2)	PBC1	109720	3p12-q13.2
Biliary cirrhosis, primary, 4 (2)	PBC4	614220	7q32
Biliary cirrhosis, primary, 5 (2)	PBC5	614221	17q12
Biliary, renal, neurologic, and skeletal syndrome, 619534 (3)	TTC26, IFT56, BRENS	617453	7q34
Biotinidase deficiency, 253260 (3)	BTD	609019	3p25.1
Birk-Barel syndrome, 612292 (3)	KCNK9, TASK32, BIBARS	605874	8q24.3
Birk-Landau-Perez syndrome, 617595 (3)	SLC30A9, C4orf1, HUEL, BILAPES	604604	4p13
Birt-Hogg-Dube syndrome, 135150 (3)	FLCN, BHD	607273	17p11.2
Bjornstad syndrome, 262000 (3)	BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1	603647	2q35
Bladder cancer, somatic, 109800 (3)	FGFR3, ACH	134934	4p16.3
Bladder cancer, somatic, 109800 (3)	HRAS	190020	11p15.5
Bladder cancer, somatic, 109800 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	190070	12p12.1
Bladder cancer, somatic, 109800 (3)	RB1	614041	13q14.2
Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 (3)	CHRNA3, LNCR2, PAOD2, BAIPRCK	118503	15q25.1
Blau syndrome, 186580 (3)	NOD2, CARD15, IBD1, CD, YAOS, BLAUS	605956	16q12.1
Bleeding disorder, east Texas type (2)	BDET	605913	1q23
Bleeding disorder, platelet-type, 11, 614201 (3)	GP6, GPIV, BDPLT11	605546	19q13.42
Bleeding disorder, platelet-type, 14 (2)	BDPLT14	614158	7q34
Bleeding disorder, platelet-type, 15, 615193 (3)	ACTN1, BDPLT15	102575	14q24.1
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)	ITGA2B, GP2B, CD41B, GT1, BDPLT2, BDPLT16	607759	17q21.31
Bleeding disorder, platelet-type, 17, 187900 (3)	GFI1B, BDPLT17	604383	9q34.13
Bleeding disorder, platelet-type, 20, 616913 (3)	SLFN14, BDPLT20	614958	17q12
Bleeding disorder, platelet-type, 21, 617443 (3)	FLI1, BDPLT21	193067	11q24.3
Bleeding disorder, platelet-type, 24, autosomal dominant, 619271 (3)	ITGB3, GP3A, GT2, BDPLT24	173470	17q21.32
Bleeding disorder, platelet-type, 8, 609821 (3)	P2RY12, P2Y12, BDPLT8	600515	3q25.1
Bleeding disorder, platelet-type, 9 (2)	BDPLT9	614200	5q11.2
Blepharocheilodontic syndrome 1, 119580 (3)	CDH1, UVO, LCAM, ECAD, BCDS1	192090	16q22.1
Blepharocheilodontic syndrome 2, 617681 (3)	CTNND1, CTNND, BCDS2	601045	11q12.1
Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3)	FOXL2, BPES, BPES1, PFRK, POF3	605597	3q22.3
Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3)	FOXL2, BPES, BPES1, PFRK, POF3	605597	3q22.3
Blepharophimosis-impaired intellectual development syndrome, 619293 (3)	SMARCA2, SNF2L2, NCBRS, BIS	600014	9p24.3
Blistering, acantholytic, of oral and laryngeal mucosa, 619226 (3)	DSG3, ABOLM	169615	18q12.1
Blood group--Lutheran inhibitor, 111150 (3)	KLF1, EKLF, INLU, HBFQTL6, CDAN4	600599	19p13.13
Bloom syndrome, 210900 (3)	RECQL3, RECQ2, BLM, BS, MGRISCE1	604610	15q26.1
Blue cone monochromacy, 303700 (3)	OPN1LW, RCP, CBP, CBBM	300822	Xq28
Blue cone monochromacy, 303700 (3)	OPN1MW, GCP, CBD, CBBM	300821	Xq28
Bohring-Opitz syndrome, 605039 (3)	ASXL1, KIAA0978, BOPS, MDS	612990	20q11.21
Bone marrow failure syndrome 1, 614675 (3)	SRP72, BMFS1	602122	4q12
Bone marrow failure syndrome 2, 615715 (3)	ERCC6L2, RAD26L, BMFS2	615667	9q22.32
Bone marrow failure syndrome 3, 617052 (3)	DNAJC21, DNAJA5, BMFS3	617048	5p13.2
Bone marrow failure syndrome 4, 618116 (3)	MYSM1, 2ADUB, KIAA1915, BMFS4	612176	1p32.1
Bone marrow failure syndrome 5, 618165 (3)	TP53, P53, LFS1 , BCC7, BMFS5	191170	17p13.1
Bone mineral density QTL18, osteoporosis, 300910 (3)	PLS3, BMND18	300131	Xq23
Boomerang dysplasia, 112310 (3)	FLNB, SCT, AOI, LRS1	603381	3p14.3
Bor-Duane hydrocephalus contiguous gene syndrome (4)	DEL8q12q21, C8DELq12q21	600257	8q12.2-q21.2
Borjeson-Forssman-Lehmann syndrome, 301900 (3)	PHF6, BFLS	300414	Xq26.2
Bornholm eye disease (2)	BED	300843	Xq28
Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3)	NR2F1, TFCOUP1, ERBAL3, EAR3, BBSOAS	132890	5q15
Bosley-Salih-Alorainy syndrome, 601536 (3)	HOXA1, HOX1F, BSAS	142955	7p15.2
Bosma arhinia microphthalmia syndrome, 603457 (3)	SMCHD1, KIAA0650, BAMS	614982	18p11.32
Bothnia retinal dystrophy, 607475 (3)	RLBP1	180090	15q26.1
Boucher-Neuhauser syndrome, 215470 (3)	PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS	603197	19p13.2
Boudin-Mortier syndrome, 619543 (3)	NPR3, ANPRC, BOMOS	108962	5p13.3
Bowen-Conradi syndrome, 211180 (3)	EMG1, NEP1, C2F, BWCNS	611531	12p13.31
Brachycephaly, trichomegaly, and developmental delay, 617412 (3)	RPS23, BTDD, MCINS	603683	5q14.2
Brachydactyly, type A1, 112500 (3)	IHH, BDA1	600726	2q35
Brachydactyly, type A1, B (2)	BDA1B	607004	5p13.3-p13.2
Brachydactyly, type A1, C, 615072 (3)	GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B, DUPANS	601146	20q11.22
Brachydactyly, type A1, D, 616849 (3)	BMPR1B, ALK6, AMD3, BDA2, BDA1D	603248	4q22.3
Brachydactyly, type A2, 112600 (3)	BMP2, BMP2A, BDA2, SSFSC1	112261	20p12.3
Brachydactyly, type A2, 112600 (3)	BMPR1B, ALK6, AMD3, BDA2, BDA1D	603248	4q22.3
Brachydactyly, type A2, 112600 (3)	GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B, DUPANS	601146	20q11.22
Brachydactyly, type B1, 113000 (3)	ROR2, BDB1, BDB, NTRKR2	602337	9q22.31
Brachydactyly, type B2, 611377 (3)	NOG, SYM1, SYNS1A	602991	17q22
Brachydactyly, type C, 113100 (3)	GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B, DUPANS	601146	20q11.22
Brachydactyly, type D, 113200 (3)	HOXD13, HOX4I, SPD1, BDSD	142989	2q31.1
Brachydactyly, type E, 113300 (3)	HOXD13, HOX4I, SPD1, BDSD	142989	2q31.1
Brachydactyly, type E2, 613382 (3)	PTHLH, BDE2	168470	12p11.22
Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)	PAPSS2, ATPSK2, BCYM4	603005	10q23.2-q23.31
Brachyolmia type 3, 113500 (3)	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3	605427	12q24.11
Bradyopsia, 608415 (3)	RGS9, PERRS	604067	17q24.1
Bradyopsia, 608415 (3)	RGS9BP, R9AP, RGS9, PERRS	607814	19q13.11
Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476 (3)	CSF1R, FMS, HDLS1, BANDDOS	164770	5q32
Brain malformations with or without urinary tract defects, 613735 (3)	NFIA, BRMUTD	600727	1p31.3
Brain small vessel disease 2, 614483 (3)	COL4A2, BSVD2, ICH	120090	13q34
Brain small vessel disease 3, 618360 (3)	COLGALT1, GLT25D1, BSVD3	617531	19p13.11
Brain small vessel disease with or without ocular anomalies, 175780 (3)	COL4A1, BSVD1, HANAC, ICH, BSVD, RATOR, PADMAL	120130	13q34
Brain tumor-polyposis syndrome 2, 175100 (3)	APC, GS, FPC, BTPS2, DESMD	611731	5q22.2
Branched-chain keto acid dehydrogenase kinase deficiency, 614923 (3)	BCKDK, BDK, BCKDKD	614901	16p11.2
Branchiooculofacial syndrome, 113620 (3)	TFAP2A, AP2TF, BOFS	107580	6p24.3
Branchiootic syndrome 1, 602588 (3)	EYA1, BOR, BOS1, OFC1	601653	8q13.3
Branchiootic syndrome 2 (2)	BOS2	120502	1q31
Branchiootic syndrome 3, 608389 (3)	SIX1, BOS3, DFNA23	601205	14q23.1
Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)	EYA1, BOR, BOS1, OFC1	601653	8q13.3
Branchiootorenal syndrome 2, 610896 (3)	SIX5, DMAHP, BOR2	600963	19q13.32
Breast cancer (1)	BCPR	113721	17p13.3
Breast cancer, lobular, somatic, 114480 (3)	CDH1, UVO, LCAM, ECAD, BCDS1	192090	16q22.1
Breast cancer, somatic, 114480 (3)	AKT1, CWS6	164730	14q32.33
Breast cancer, somatic, 114480 (3)	ESR1, ESR, ESTRR	133430	6q25.1-q25.2
Breast cancer, somatic, 114480 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	190070	12p12.1
Breast cancer, somatic, 114480 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
Breast cancer, somatic, 114480 (3)	PPM1D, WIP1, JDVS	605100	17q23.2
Breast cancer, somatic, 114480 (3)	RB1CC1, CC1, KIAA0203	606837	8q11.23
Breast cancer, somatic, 114480 (3)	SLC22A1L, BWSCR1A, IMPT1	602631	11p15.4
Breast cancer, somatic, 114480 (3)	TP53, P53, LFS1 , BCC7, BMFS5	191170	17p13.1
Brittle cornea syndrome 1, 229200 (3)	ZNF469, KIAA1858, BCS1	612078	16q24.2
Brittle cornea syndrome 2, 614170 (3)	PRDM5, BCS2	614161	4q27
Brody myopathy, 601003 (3)	ATP2A1, SERCA1	108730	16p11.2
Bronchiectasis with or without elevated sweat chloride 1, 211400 (3)	SCNN1B, BESC1, LIDLS1	600760	16p12.2
Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)	SCNN1A, BESC2, LIDLS3	600228	12p13.31
Bronchiectasis with or without elevated sweat chloride 3, 613071 (3)	SCNN1G, PHA1, BESC3, LDLS2	600761	16p12.2
Brooke-Spiegler syndrome, 605041 (3)	CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS, FTDALS8	605018	16q12.1
Brown-Vialetto-Van Laere syndrome 1, 211530 (3)	SLC52A3, C20orf54, RFT2, BVVLS1	613350	20p13
Brown-Vialetto-Van Laere syndrome 2, 614707 (3)	SLC52A2, GPR172A, GPCR41, PAR1, FLJ11856, BVVLS2	607882	8q24.3
Bruck syndrome 1, 259450 (3)	FKBP10, FKBP65, OI11, BRKS1	607063	17q21.2
Bruck syndrome 2, 609220 (3)	PLOD2, LH2, TLH, BRKS2	601865	3q24
Brugada syndrome 1, 601144 (3)	SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2	600163	3p22.2
Brugada syndrome 2, 611777 (3)	GPD1L, KIAA0089	611778	3p22.3
Brugada syndrome 3, 611875 (3)	CACNA1C, CACNL1A1, CCHL1A1, TS. LQT8	114205	12p13.33
Brugada syndrome 4, 611876 (3)	CACNB2	600003	10p12.33-p12.31
Brugada syndrome 5, 612838 (3)	SCN1B, GEFSP1, BRGDA5, ATFB13, DEE52	600235	19q13.11
Brugada syndrome 7, 613120 (3)	SCN3B, SCNB3, BRGDA7, ATFB16	608214	11q24.1
Brugada syndrome 8, 613123 (3)	HCN4, SSS2, BRGDA8, EIG18	605206	15q24.1
Brugada syndrome 9, 616399 (3)	KCND3, KCND3S, KCND3L, SCA19, SCA22, BRGDA9	605411	1p13.2
Brunet-Wagner neurodevelopmental syndrome, 619690 (3)	RBL2, BRUWAG	180203	16q12.2
Brunner syndrome, 300615 (3)	MAOA, BRNRS	309850	Xp11.3
Bryant-Li-Bhoj neurodevelopmental syndrome 1, 619720 (3)	H3-3A, H3F3A, H3F3, BRYLIB1	601128	1q42.12
Bryant-Li-Bhoj neurodevelopmental syndrome 2, 619721 (3)	H3-3B, H3F3B, BRYLIB2	601058	17q25.1
Buratti-Harel syndrome, 619314 (3)	SIAH1, BURHAS	602212	16q12.1
Burkitt lymphoma, somatic, 113970 (3)	MYC	190080	8q24.21
Burn-McKeown syndrome, 608572 (3)	TXNL4A, DIM1, BMKS	611595	18q23
Buschke-Ollendorff syndrome, 166700 (3)	LEMD3, MAN1	607844	12q14.3
Butyrylcholinesterase deficiency, 617936 (3)	BCHE, CHE1, BCHED	177400	3q26.1
C syndrome, 211750 (3)	CD96, TACTILE	606037	3q13.13-q13.2
C1q deficiency, 613652 (3)	C1QA	120550	1p36.12
C1q deficiency, 613652 (3)	C1QB	120570	1p36.12
C1q deficiency, 613652 (3)	C1QC, C1QG	120575	1p36.12
C1s deficiency, 613783 (3)	C1S, EDSPD2	120580	12p13.31
C2 deficiency, 217000 (3)	C2, ARMD14	613927	6p21.33
C3 deficiency, 613779 (3)	C3, ARMD9, AHUS5	120700	19p13.3
C4B deficiency, 614379 (3)	C4B, C4F, C4BD	120820	6p21.33
C4a deficiency, 614380 (3)	C4A, C4S, C4AD	120810	6p21.33
C5 deficiency, 609536 (3)	C5, C5D, ECLZB	120900	9q33.2
C6 deficiency, 612446 (3)	C6	217050	5p13.1
C7 deficiency, 610102 (3)	C7	217070	5p13.1
C8 deficiency, type I, 613790 (3)	C8A	120950	1p32.2
C8 deficiency, type II, 613789 (3)	C8B	120960	1p32.2
C9 deficiency, 613825 (3)	C9, C9D, ARMD15	120940	5p13.1
CAP myopathy 1, 609284 (3)	TPM3, NEM1, CFTD, CAPM1	191030	1q21.3
CAP myopathy 2, 609285 (3)	TPM2, TMSB, AMCD1, DA1, DA2B4, NEM4	190990	9p13.3
CAPOS syndrome, 601338 (3)	ATP1A3, DYT12, RDP, AHC2, CAPOS, DEE99	182350	19q13.2
CARASIL syndrome, 600142 (3)	HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2	602194	10q26.13
CATIFA syndrome, 618761 (3)	RIC1, CIP150, KIAA1432, CATIFA	610354	9p24.1
CATSHL syndrome, 610474 (3)	FGFR3, ACH	134934	4p16.3
CD8 deficiency, familial, 608957 (3)	CD8A	186910	2p11.2
CDAGS syndrome (2)	CDAGS	603116	22q12-q13
CEBALID syndrome, 618774 (3)	MN1, MGCR, CEBALID	156100	22q12.1
CHAND syndrome, 214350 (3)	RIPK4, NKRD3, DIK, PPS2, CHANDS	605706	21q22.3
CHARGE syndrome, 214800 (3)	CHD7, HH5	608892	8q12.2
CHILD syndrome, 308050 (3)	NSDHL	300275	Xq28
CHIME syndrome, 280000 (3)	PIGL, CHIME	605947	17p11.2
CHOPS syndrome, 616368 (3)	AFF4, AF5Q31, CHOPS	604417	5q31.1
CIMDAG syndrome, 619273 (3)	VPS4A, VPS4, CIMDAG	609982	16q22.1
CINCA syndrome, 607115 (3)	NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH	606416	1q44
CK syndrome, 300831 (3)	NSDHL	300275	Xq28
CLAPO syndrome, somatic, 613089 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
CLOVE syndrome, somatic, 612918 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
COACH syndrome 1, 216360 (3)	TMEM67, MKS3, JBTS6, NPHP11	609884	8q22.1
COACH syndrome 2, 619111 (3)	CC2D2A, KIAA1345, MKS6, COACH2, RP93	612013	4p15.32
CODAS syndrome, 600373 (3)	LONP1, PRSS15, LON, CODASS	605490	19p13.3
COMMAD syndrome, 617306 (3)	MITF, WS2A, CMM8, COMMAD	156845	3p13
COPD, rate of decline of lung function in, 606963 (3)	MMP1, CLG	120353	11q22.2
CPT II deficiency, infantile, 600649 (3)	CPT2, IIAE4	600650	1p32.3
CPT II deficiency, lethal neonatal, 608836 (3)	CPT2, IIAE4	600650	1p32.3
CPT II deficiency, myopathic, stress-induced, 255110 (3)	CPT2, IIAE4	600650	1p32.3
CPT deficiency, hepatic, type IA, 255120 (3)	CPT1A	600528	11q13.3
CRASH syndrome, 303350 (3)	L1CAM, CAML1, HSAS1, MASA, SPG1	308840	Xq28
Caffey disease, 114000 (3)	COL1A1, OI1, OI2, OI3, OI4, EDSARTH1, CAFYD	120150	17q21.33
Calcification of joints and arteries, 211800 (3)	NT5E, NT5	129190	6q14.3
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, 126550 (3)	SGMS2, SMS2, CDL	611574	4q25
Campomelic dysplasia with autosomal sex reversal, 114290 (3)	SOX9, CMD1, SRA1	608160	17q24.3
Campomelic dysplasia, 114290 (3)	SOX9, CMD1, SRA1	608160	17q24.3
Camptodactyly 1 (2)	CAMPD1	114200	3q11.2-q13.12
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)	PRG4, CACP, MSF, SZP, HAPO	604283	1q31.1
Camurati-Engelmann disease, 131300 (3)	TGFB1, DPD1, CED, IBDIMDE	190180	19q13.2
Canavan disease, 271900 (3)	ASPA	608034	17p13.2
Candidiasis, familial, 1, autosomal dominant (2)	CANDF1, CMCT	114580	2p22.3-p21
Candidiasis, familial, 2, autosomal recessive, 212050 (3)	CARD9, CANDF2	607212	9q34.3
Candidiasis, familial, 3 (2)	CANDF3, CANDN1, FCNC	607644	11p13-q12
Candidiasis, familial, 4, autosomal recessive, 613108 (3)	CLEC7A, CLECSF12, DECTIN1, CANDF4	606264	12p13.2
Candidiasis, familial, 9, 616445 (3)	IL17RC, IL17RL, CANDF9	610925	3p25.3
Capillary malformation-arteriovenous malformation 1, 608354 (3)	RASA1, GAP, CMAVM1, PKWS	139150	5q14.3
Capillary malformation-arteriovenous malformation 2, 618196 (3)	EPHB4, HTK, MYK1, HFASD, CMAVM2, LMPHM7	600011	7q22.1
Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3)	GNAQ, SWS, CMC1	600998	9q21.2
Carbamoylphosphate synthetase I deficiency, 237300 (3)	CPS1, PHN	608307	2q34
Carboxypeptidase N deficiency, 212070 (3)	CPN1, SCPN, CPN	603103	10q24.2
Carcinoid tumor of lung (3)	MEN1	613733	11q13.1
Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, 615441 (3)	TRDN, TDN, CARDAR	603283	6q22.31
Cardiac arrhythmia, ankyrin-B-related, 600919 (3)	ANK2, LQT4	106410	4q25-q26
Cardiac conduction defect, nonspecific, 612838 (3)	SCN1B, GEFSP1, BRGDA5, ATFB13, DEE52	600235	19q13.11
Cardiac conduction disease with or without dilated cardiomyopathy, 616117 (3)	TNNI3K, CCDD	613932	1p31.1
Cardiac valvular defect, developmental, 212093 (3)	PLD1, CVDD	602382	3q26.31
Cardiac valvular dysplasia, X-linked, 314400 (3)	FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2	300017	Xq28
Cardiac, facial, and digital anomalies with developmental delay, 618164 (3)	TRAF7, RFWD1, CAFDADD	606692	16p13.3
Cardiac-urogenital syndrome, 618280 (3)	MYRF, C11orf9, KIAA0954, MMERV, CUGS	608329	11q12.2
Cardioacrofacial dysplasia 1, 619142 (3)	PRKACA, CAFD1	601639	19p13.12
Cardioacrofacial dysplasia 2, 619143 (3)	PRKACB, CAFD2	176892	1p31.1
Cardiofaciocutaneous syndrome 2, 615278 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	190070	12p12.1
Cardiofaciocutaneous syndrome 3, 615279 (3)	MAP2K1, PRKMK1, MKK1, MEK1, CFC3, MEL	176872	15q22.31
Cardiofaciocutaneous syndrome 4, 615280 (3)	MAP2K2, PRKMK2, MEK2, MKK2, CFC4	601263	19p13.3
Cardiofaciocutaneous syndrome, 115150 (3)	BRAF, NS7	164757	7q34
Cardiofacioneurodevelopmental syndrome, 619123 (3)	CCDC32, CFNDS, C15orf57	618941	15q15.1
Cardiomyopathy, dilated 1B (2)	CMD1B, CMPD1, FDC	600884	9q13
Cardiomyopathy, dilated, 1A, 115200 (3)	LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS	150330	1q22
Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)	ACTN2, CMD1AA, CMH23, MYOCOZ, MPD6	102573	1q43
Cardiomyopathy, dilated, 1BB, 612877 (3)	DSG2, ARVD10, ARVC10, CMD1BB	125671	18q12.1
Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3)	LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3	605906	10q23.2
Cardiomyopathy, dilated, 1CC, 613122 (3)	NEXN, NELIN, CMD1CC, CMH20	613121	1p31.1
Cardiomyopathy, dilated, 1D, 601494 (3)	TNNT2, CMH2, CMD1D, RCM3, LVNC6	191045	1q32.1
Cardiomyopathy, dilated, 1DD, 613172 (3)	RBM20	613171	10q25.2
Cardiomyopathy, dilated, 1E, 601154 (3)	SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2	600163	3p22.2
Cardiomyopathy, dilated, 1EE, 613252 (3)	MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3	160710	14q11.2
Cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D (2)	CMD1F, CDCD3, LGMD1D	602067	6q23
Cardiomyopathy, dilated, 1FF, 613286 (3)	TNNI3, CMH7, CMD2A, RCM1, CMD1FF	191044	19q13.42
Cardiomyopathy, dilated, 1G, 604145 (3)	TTN, CMD1G, TMD, LGMDR10, MPRM, HMERF, SALMY	188840	2q31.2
Cardiomyopathy, dilated, 1GG, 613642 (3)	SDHA, SDH1, SDHF, CMD1GG, PGL5, MC2DN1, NDAXOA	600857	5p15.33
Cardiomyopathy, dilated, 1H (2)	CMD1H	604288	2q14-q22
Cardiomyopathy, dilated, 1HH, 613881 (3)	BAG3, MFM6	603883	10q26.11
Cardiomyopathy, dilated, 1I, 604765 (3)	DES, CMD1I, MFM1, SCPNK	125660	2q35
Cardiomyopathy, dilated, 1II, 615184 (3)	CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2	123590	11q23.1
Cardiomyopathy, dilated, 1JJ, 615235 (3)	LAMA4, LAMA3, CMD1JJ	600133	6q21
Cardiomyopathy, dilated, 1K (2)	CMD1K	605582	6q12-q16
Cardiomyopathy, dilated, 1KK, 615248 (3)	MYPN, CMD1DD, CMH22, RCM4, NEM11	608517	10q21.3
Cardiomyopathy, dilated, 1L, 606685 (3)	SGCD, SGD, LGMDR6, CMD1L	601411	5q33.2-q33.3
Cardiomyopathy, dilated, 1LL, 615373 (3)	PRDM16, MEL1, LVNC8, CMD1LL	605557	1p36.32
Cardiomyopathy, dilated, 1MM, 615396 (3)	MYBPC3, CMH4, CMD1MM, LVNC10	600958	11p11.2
Cardiomyopathy, dilated, 1NN, 615916 (3)	RAF1, CRAF, NS5, CMD1NN	164760	3p25.2
Cardiomyopathy, dilated, 1O, 608569 (3)	ABCC9, SUR2, CMD1O, ATFB12, CANTU, IDMYS	601439	12p12.1
Cardiomyopathy, dilated, 1P, 609909 (3)	PLN, PLB, CMD1P, CMH18	172405	6q22.31
Cardiomyopathy, dilated, 1Q (2)	CMD1Q	609915	7q22.3-q31.1
Cardiomyopathy, dilated, 1R, 613424 (3)	ACTC1, CMD1R, CMH11, ASD5, LVNC4	102540	15q14
Cardiomyopathy, dilated, 1S, 613426 (3)	MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD	160760	14q11.2
Cardiomyopathy, dilated, 1U, 613694 (3)	PSEN1, AD3, ACNINV3	104311	14q24.2
Cardiomyopathy, dilated, 1V, 613697 (3)	PSEN2, AD4, STM2, CMD1V	600759	1q42.13
Cardiomyopathy, dilated, 1W, 611407 (3)	VCL, CMD1W, CMH15	193065	10q22.2
Cardiomyopathy, dilated, 1X, 611615 (3)	FKTN, FCMD, CMD1X, LGMDR13, MDDGA4, MDDGB4, MDDGC4	607440	9q31.2
Cardiomyopathy, dilated, 1Y, 611878 (3)	TPM1, CMH3, CMD1Y , LVNC9	191010	15q22.2
Cardiomyopathy, dilated, 1Z, 611879 (3)	TNNC1, CMD1Z, CMH13	191040	3p21.1
Cardiomyopathy, dilated, 2C, 618189 (3)	PPCS, CMD2C	609853	1p34.2
Cardiomyopathy, dilated, 2D, 619371 (3)	RPL3L, CMD2D	617416	16p13.3
Cardiomyopathy, dilated, 2E, 619492 (3)	JPH2, JP2, CMH17, CMD2E	605267	20q13.12
Cardiomyopathy, dilated, 2F, 619747 (3)	BAG5, CMD2F	603885	14q32.33
Cardiomyopathy, dilated, 3B, 302045 (3)	DMD, BMD, CMD3B	300377	Xp21.2-p21.1
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)	DSP, KPPS2, PPKS2, DCWHKTA	125647	6p24.3
Cardiomyopathy, familial hypertrophic 27, 618052 (3)	ALPK3, MIDORI, KIAA1330, CMH27	617608	15q25.3
Cardiomyopathy, familial hypertrophic, 192600 (3)	CAV3, LQT9, MPDT, RMD2	601253	3p25.3
Cardiomyopathy, familial hypertrophic, 26, 617047 (3)	FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5	102565	7q32.1
Cardiomyopathy, familial hypertrophic, 28, 619402 (3)	FHOD3, FHOS2, KIAA1695, CMH28	609691	18q12.2
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)	TTN, CMD1G, TMD, LGMDR10, MPRM, HMERF, SALMY	188840	2q31.2
Cardiomyopathy, familial restrictive 5, 617047 (3)	FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5	102565	7q32.1
Cardiomyopathy, familial restrictive, 1, 115210 (3)	TNNI3, CMH7, CMD2A, RCM1, CMD1FF	191044	19q13.42
Cardiomyopathy, familial restrictive, 2 (2)	RCM2	609578	10q23.3
Cardiomyopathy, familial restrictive, 3, 612422 (3)	TNNT2, CMH2, CMD1D, RCM3, LVNC6	191045	1q32.1
Cardiomyopathy, familial restrictive, 4, 615248 (3)	MYPN, CMD1DD, CMH22, RCM4, NEM11	608517	10q21.3
Cardiomyopathy, hypertrophic 6, 600858 (3)	PRKAG2, WPWS, CMH6	602743	7q36.1
Cardiomyopathy, hypertrophic, 1, 192600 (3)	MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD	160760	14q11.2
Cardiomyopathy, hypertrophic, 1, digenic, 192600 (3)	MYLK2, MLCK	606566	20q11.21
Cardiomyopathy, hypertrophic, 10, 608758 (3)	MYL2, CMH10, MFM12	160781	12q24.11
Cardiomyopathy, hypertrophic, 11, 612098 (3)	ACTC1, CMD1R, CMH11, ASD5, LVNC4	102540	15q14
Cardiomyopathy, hypertrophic, 12, 612124 (3)	CSRP3, CRP3, CLP, CMD1M, CMH12	600824	11p15.1
Cardiomyopathy, hypertrophic, 13, 613243 (3)	TNNC1, CMD1Z, CMH13	191040	3p21.1
Cardiomyopathy, hypertrophic, 14, 613251 (3)	MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3	160710	14q11.2
Cardiomyopathy, hypertrophic, 15, 613255 (3)	VCL, CMD1W, CMH15	193065	10q22.2
Cardiomyopathy, hypertrophic, 16, 613838 (3)	MYOZ2, CMH16	605602	4q26
Cardiomyopathy, hypertrophic, 17, 613873 (3)	JPH2, JP2, CMH17, CMD2E	605267	20q13.12
Cardiomyopathy, hypertrophic, 18, 613874 (3)	PLN, PLB, CMD1P, CMH18	172405	6q22.31
Cardiomyopathy, hypertrophic, 2, 115195 (3)	TNNT2, CMH2, CMD1D, RCM3, LVNC6	191045	1q32.1
Cardiomyopathy, hypertrophic, 20, 613876 (3)	NEXN, NELIN, CMD1CC, CMH20	613121	1p31.1
Cardiomyopathy, hypertrophic, 21 (2)	CMH21	614676	7p12.1-q21
Cardiomyopathy, hypertrophic, 22, 615248 (3)	MYPN, CMD1DD, CMH22, RCM4, NEM11	608517	10q21.3
Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)	ACTN2, CMD1AA, CMH23, MYOCOZ, MPD6	102573	1q43
Cardiomyopathy, hypertrophic, 24, 601493 (3)	LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3	605906	10q23.2
Cardiomyopathy, hypertrophic, 25, 607487 (3)	TCAP, LGMDR7, CMH25	604488	17q12
Cardiomyopathy, hypertrophic, 3, 115196 (3)	TPM1, CMH3, CMD1Y , LVNC9	191010	15q22.2
Cardiomyopathy, hypertrophic, 4, 115197 (3)	MYBPC3, CMH4, CMD1MM, LVNC10	600958	11p11.2
Cardiomyopathy, hypertrophic, 7, 613690 (3)	TNNI3, CMH7, CMD2A, RCM1, CMD1FF	191044	19q13.42
Cardiomyopathy, hypertrophic, 8, 608751 (3)	MYL3, CMH8	160790	3p21.31
Cardiospondylocarpofacial syndrome, 157800 (3)	MAP3K7, TAK1, CSCF, FMD2	602614	6q15
Carey-Fineman-Ziter syndrome, 254940 (3)	MYMK, TMEM8C	615345	9q34.2
Carney complex variant, 608837 (3)	MYH8, DA7	160741	17p13.1
Carney complex, type 1, 160980 (3)	PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1	188830	17q24.2
Carney complex, type II (2)	CNC2	605244	2p16
Carnitine deficiency, systemic primary, 212140 (3)	SLC22A5, OCTN2, CDSP, SCD	603377	5q31.1
Carnitine-acylcarnitine translocase deficiency, 212138 (3)	SLC25A20, CACT, CAC	613698	3p21.31
Carnosinemia (2)	CNSN	212200	18q21.3
Carotid intimal medial thickness (2)	CIMT	608447	12q24
Carotid intimal medial thickness 1, 609338 (3)	PPARG, PPARG1, PPARG2, CIMT1, GLM1	601487	3p25.2
Carpal tunnel syndrome 2, 619161 (3)	COMP, EDM1, MED, PSACH, CTS2	600310	19p13.11
Carpal tunnel syndrome, familial, 115430 (3)	TTR, PALB	176300	18q12.1
Carpenter syndrome 2, 614976 (3)	MEGF8, EGFL4, CRPT2	604267	19q13.2
Carpenter syndrome, 201000 (3)	RAB23	606144	6p12.1-p11.2
Cartilage-hair hypoplasia, 250250 (3)	RMRP, RMRPR, CHH	157660	9p13.3
Cat eye syndrome (4)	CECR, CES	115470	22q11
Cataract 1, multiple types, 116200 (3)	GJA8, CX50, CTRCT1, CZP1, CAE1	600897	1q21.2
Cataract 10, multiple types, 600881 (3)	CRYBA1, CRYB1, CTRCT10	123610	17q11.2
Cataract 11, multiple types, 610623 (3)	PITX3, CTPP4, CTRCT11, ASGD1	602669	10q24.32
Cataract 11, syndromic, autosomal recessive, 610623 (3)	PITX3, CTPP4, CTRCT11, ASGD1	602669	10q24.32
Cataract 12, multiple types, 611597 (3)	BFSP2, CP49, CP47, CTRCT12	603212	3q22.1
Cataract 13 with adult i phenotype, 116700 (3)	GCNT2, Ii, CTRCT13	600429	6p24.3-p24.2
Cataract 14, multiple types, 601885 (3)	GJA3, CX46, CZP3, CAE3, CTRCT14	121015	13q12.11
Cataract 15, multiple types, 615274 (3)	MIP, AQP0, CTRCT15	154050	12q13.3
Cataract 16, multiple types, 613763 (3)	CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2	123590	11q23.1
Cataract 17, multiple types, 611544 (3)	CRYBB1, CATCN3, CTRCT17	600929	22q12.1
Cataract 18, autosomal recessive, 610019 (3)	FYCO1, CATC2, CTRCT18	607182	3p21.31
Cataract 19, multiple types, 615277 (3)	LIM2, MP19, CTRCT19	154045	19q13.41
Cataract 2, multiple types, 604307 (3)	CRYGC, CRYG3, CTRCT2, CCL	123680	2q33.3
Cataract 20, multiple types, 116100 (3)	CRYGS, CRYG8, CTRCT20	123730	3q27.3
Cataract 21, multiple types, 610202 (3)	MAF, CCA4, CTRCT21, AYGRP	177075	16q23.2
Cataract 22, 609741 (3)	CRYBB3, CRYB3, CATCN2, CTRCT22	123630	22q11.23
Cataract 23, 610425 (3)	CRYBA4, CTRCT23	123631	22q12.1
Cataract 24, anterior polar (2)	CTRCT24, CTAA2	601202	17p13
Cataract 25 (2)	CTRCT25, CCSSO	605728	15q21-q22
Cataract 26, multiple types (2)	CTRCT26, CAAR	605749	9q13-q22
Cataract 27, nuclear progressive (2)	CTRCT27, CCNP	607304	2p12
Cataract 29, coralliform (2)	CTRCT29	115800	2pter-p24
Cataract 3, multiple types, 601547 (3)	CRYBB2, CRYB2, CTRCT3, CCA2	123620	22q11.23
Cataract 30, pulverulent, 116300 (3)	VIM, CTRCT30	193060	10p13
Cataract 31, multiple types, 605387 (3)	CHMP4B, SNF7, CTPP3, CTRCT31	610897	20q11.22
Cataract 32, multiple types (2)	CTRCT32, CTAA1, CAP, CTPP5	115650	14q22-q23
Cataract 33, multiple types, 611391 (3)	BFSP1, CP115, CTRCT33	603307	20p12.1
Cataract 34, multiple types, 612968 (3)	FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11	601094	1p33
Cataract 35, congenital nuclear (2)	CTRCT35, CATCN1	609376	19q13
Cataract 36, 613887 (3)	TDRD7, KIAA1529, TRAP, CATC4, CTRCT36	611258	9q22.33
Cataract 37, autosomal dominant (2)	CTRCT37, CCA5	614422	12q24.2-q24.3
Cataract 38, autosomal recessive, 614691 (3)	AGK, MULK, MTDPS10, CATC5, CTRCT38	610345	7q34
Cataract 39, multiple types, autosomal dominant, 615188 (3)	CRYGB, CRYG2, CTRCT39	123670	2q33.3
Cataract 4, multiple types, 115700 (3)	CRYGD, CRYG4, CTRCT4, CACA, CCA3, PCC	123690	2q33.3
Cataract 40, X-linked, 302200 (3)	NHS, CXN, CTRCT40	300457	Xp22.2-p22.13
Cataract 44, 616509 (3)	LSS, OSC, CTRCT44, HYPT14, APMR4	600909	21q22.3
Cataract 46, juvenile-onset, 212500 (3)	LEMD2, NET25, CTRCT42, MARUPS	616312	6p21.31
Cataract 47, juvenile, with microcornea, 612018 (3)	SLC16A12, MCT12, CTRCT47	611910	10q23.31
Cataract 48, 618415 (3)	DNMBP, TUBA, KIAA1010, CTRCT48	611282	10q24.2
Cataract 5, multiple types, 116800 (3)	HSF4, CTM, CTRCT5	602438	16q22.1
Cataract 6, multiple types, 116600 (3)	EPHA2, ECK, CTPP1, CTPA, ARCC2, CTRCT6	176946	1p36.13
Cataract 7 (2)	CTRCT7, CCA1	115660	17q24
Cataract 8, multiple types (2)	CTRCT8, CCV	115665	1pter-p36.13
Cataract 9, multiple types, 604219 (3)	CRYAA, CRYA1, CTRCT9	123580	21q22.3
Cataract with late-onset corneal dystrophy, 106210 (3)	PAX6, AN2, MGDA, FVH1, ASGD5	607108	11p13
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3)	IARS2, CAGSSS	612801	1q41
Cataracts, spastic paraparesis, and speech delay, 619338 (3)	FAR1, MLSTD2, PFCRD, CSPSD	616107	11p15.3
Catel-Manzke syndrome, 616145 (3)	TGDS, SDR2E1, CATMANS	616146	13q32.1
Caudal regression syndrome, 600145 (3)	VANGL1, STBM2	610132	1p13.1
Cavernous malformations of CNS and retina, 116860 (3)	KRIT1, CCM1, CAM	604214	7q21.2
Cavitary optic disc anomalies, 611543 (3)	MMP19, MMP18, CODA	601807	12q13.2
Cayler cardiofacial syndrome (2)	ACF	125520	22q11
Cenani-Lenz syndactyly syndrome, 212780 (3)	LRP4, MEGF7, CLSS, SOST2, CMS17	604270	11p11.2
Central core disease, 117000 (3)	RYR1, MHS, CCO, KDS	180901	19q13.2
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, 209880 (3)	PHOX2B, NBPHOX, PMX2B, NBLST2, CCHS	603851	4p13
Centronuclear myopathy 1, 160150 (3)	DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5	602378	19p13.2
Centronuclear myopathy 2, 255200 (3)	BIN1, AMPHL, CNM2	601248	2q14.3
Centronuclear myopathy 5, 615959 (3)	SPEG, APEG1, CNM5	615950	2q35
Centronuclear myopathy 6 with fiber-type disproportion, 617760 (3)	ZAK, MLTK, MRK, SFMMP, CNM6	609479	2q31.1
Centrotemporal epilepsy (2)	ECT, BECTS	117100	11p13
Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3)	RNF216, TRIAD3, ZIN, CAHH	609948	7p22.1
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)	CA8, CALS, CARP, CAMRQ3	114815	8q12.1
Cerebellar ataxia, 604290 (3)	CP	117700	3q24-q25.1
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, 619576 (3)	EXOSC5, RRP46, CABAC	606492	19q13.2
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)	DNMT1, MCMT, HSN1E, ADCADN	126375	19p13.2
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)	WDR81, CAMRQ2, HYC3	614218	17p13.3
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, 614575 (3)	RFC1, RECC1, CANVAS	102579	4p14
Cerebellar atrophy with seizures and variable developmental delay, 618501 (3)	CACNA2D2, KIAA0558, CASVDD	607082	3p21.31
Cerebellar atrophy, developmental delay, and seizures, 617643 (3)	KCNMA1, SLO, PNKD3, CADEDS, IEG16, LIWAS	600150	10q22.3
Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3)	EMC1, KIAA0090, CAVIPMR	616846	1p36.13
Cerebellar dysfunction with variable cognitive and behavioral abnormalities, 614756 (3)	CAMTA1, KIAA0833, CECBA	611501	1p36.31-p36.23
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, 619761 (3)	PRDM13, CDIDHH	616741	6q16.2
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)	VLDLR, CAMRQ1	192977	9p24.2
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, 213000 (3)	OXR1, CHEGDD	605609	8q23.1
Cerebellar, ocular, craniofacial, and genital syndrome, 618479 (3)	MAB21L1, COFG	601280	13q13.3
Cerebellofaciodental syndrome, 616202 (3)	BRF1, TAF3C, GTF3B, TF3B90, CFDS	604902	14q32.33
Cerebral amyloid angiopathy, 105150 (3)	CST3, ARMD11	604312	20p11.21
Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3)	APP, AAA, CVAP, AD1	104760	21q21.3
Cerebral amyloid angiopathy, PRNP-related, 137440 (3)	PRNP, PRIP, KURU, CJD	176640	20p13
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)	NOTCH3, CADASIL1, CASIL, IMF2, LMNS	600276	19p13.12
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3)	HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2	602194	10q26.13
Cerebral cavernous malformations-1, 116860 (3)	KRIT1, CCM1, CAM	604214	7q21.2
Cerebral cavernous malformations-2, 603284 (3)	CCM2, C7orf22, MGC4067	607929	7p13
Cerebral cavernous malformations-3, 603285 (3)	PDCD10, TFAR15, CCM3	609118	3q26.1
Cerebral creatine deficiency syndrome 1, 300352 (3)	SLC6A8, CRTR, CCDS1	300036	Xq28
Cerebral creatine deficiency syndrome 2, 612736 (3)	GAMT, CCDS2	601240	19p13.3
Cerebral creatine deficiency syndrome 3, 612718 (3)	GATM, AGAT, CCDS3, FRTS1	602360	15q21.1
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)	SNAP29, CEDNIK	604202	22q11.21
Cerebral palsy, ataxic, autosomal recessive (2)	ACP	605388	9p12-q12
Cerebral palsy, spastic quadriplegic, 2, 612900 (3)	KANK1, KANK, ANKRD15, KIAA0172, CPSQ2	607704	9p24.3
Cerebral palsy, spastic quadriplegic, 3, 617008 (3)	ADD3, ADDL, CPSQ3	601568	10q25.1-q25.2
Cerebral-cerebellar-coloboma syndrome, X-linked (2)	CCCSX	300864	Chr.X
Cerebrocostomandibular syndrome, 117650 (3)	SNRPB, CCMS	182282	20p13
Cerebrooculofacioskeletal syndrome 1, 214150 (3)	ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11	609413	10q11.23
Cerebrooculofacioskeletal syndrome 3, 616570 (3)	ERCC5, XPG, COFS3	133530	13q33.1
Cerebrooculofacioskeletal syndrome 4, 610758 (3)	ERCC1, UV20, COFS4	126380	19q13.32
Cerebroretinal microangiopathy with calcifications and cysts 2, 617341 (3)	STN1, OBFC1, AAF44	613128	10q24.33
Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)	CTC1, CRMCC, C17orf68, AAF132	613129	17p13.1
Cerebrotendinous xanthomatosis, 213700 (3)	CYP27A1, CYP27, CTX	606530	2q35
Cerebrovascular disease, occlusive (3)	SERPINA3, AACT, ACT	107280	14q32.13
Ceroid lipofuscinosis, neuronal, 1, 256730 (3)	PPT1, CLN1	600722	1p34.2
Ceroid lipofuscinosis, neuronal, 10, 610127 (3)	CTSD, CPSD, CLN10	116840	11p15.5
Ceroid lipofuscinosis, neuronal, 11, 614706 (3)	GRN, CLN11	138945	17q21.31
Ceroid lipofuscinosis, neuronal, 13 (Kufs type), 615362 (3)	CTSF, CLN13	603539	11q13.2
Ceroid lipofuscinosis, neuronal, 2, 204500 (3)	TPP1, CLN2, SCAR7	607998	11p15.4
Ceroid lipofuscinosis, neuronal, 3, 204200 (3)	CLN3, BTS	607042	16p12.1
Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant, 162350 (3)	DNAJC5, DNAJC5A, CSP, CLN4	611203	20q13.33
Ceroid lipofuscinosis, neuronal, 5, 256731 (3)	CLN5	608102	13q22.3
Ceroid lipofuscinosis, neuronal, 6A, 601780 (3)	CLN6, CLN6A	606725	15q23
Ceroid lipofuscinosis, neuronal, 6B (Kufs type), 204300 (3)	CLN6, CLN6A	606725	15q23
Ceroid lipofuscinosis, neuronal, 7, 610951 (3)	MFSD8, MGC33302, CLN7, CCMD	611124	4q28.2
Ceroid lipofuscinosis, neuronal, 8, 600143 (3)	CLN8, EPMR	607837	8p23.3
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3)	CLN8, EPMR	607837	8p23.3
Cervical cancer, somatic, 603956 (3)	FGFR3, ACH	134934	4p16.3
Cervical carcinoma (2)	ST3	191181	11q13
Chanarin-Dorfman syndrome, 275630 (3)	ABHD5, CGI58, IECN2, NCIE2	604780	3p21.33
Char syndrome, 169100 (3)	TFAP2B, CHAR, PDA2	601601	6p12.3
Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3)	PRPS1, CMTX5, DFNX1, DFN2	311850	Xq22.3
Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3)	DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5	602378	19p13.2
Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3)	MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B	608507	1p36.22
Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3)	MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B	608507	1p36.22
Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)	NEFH, CMT2CC	162230	22q12.2
Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 (3)	ATP1A1, CMT2DD, HOMGSMR2	182310	1p13.1
Charcot-Marie-Tooth disease, axonal, type 2EE, 618400 (3)	MPV17, MTDPS6, CMT2EE	137960	2p23.3
Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3)	HSPB1, HSP27, CMT2F, HMN2B	602195	7q11.23
Charcot-Marie-Tooth disease, axonal, type 2FF, 619519 (3)	CADM3, IGSF4B, TSLL1, NECL1, SYNCAM3, CMT2FF	609743	1q23.2
Charcot-Marie-Tooth disease, axonal, type 2GG, 606483 (3)	GBF1, CMT2GG	603698	10q24.32
Charcot-Marie-Tooth disease, axonal, type 2H (2)	CMT2H	607731	8q13-q23
Charcot-Marie-Tooth disease, axonal, type 2HH, 619574 (3)	JAG1, AGS1, AHD, DCHE, CMT2HH	601920	20p12.2
Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)	GDAP1, CMT4A, CMT2K, CMTRIA	606598	8q21.11
Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3)	HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A	608014	12q24.23
Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3)	AARS1, AARS, CMT2N, DEE29, HDLS2, TTD8	601065	16q22.1
Charcot-Marie-Tooth disease, axonal, type 2O, 614228 (3)	DYNC1H1, DNCL, DNECL, CMT2O, MRD13, SMALED1	600112	14q32.31
Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)	LRSAM1, TAL, RIFLE, CMT2P	610933	9q33.3-q34.11
Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)	IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6, CMT2S	600502	11q13.3
Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3)	MME, CD10, CALLA, NEP, CMT2T, SCA43	120520	3q25.2
Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3)	MARS1, MARS, MTRNS, METRS, ILLD, CMT2U, TTD9	156560	12q13.3
Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3)	HARS1, HARS, USH3B, CMT2W	142810	5q31.3
Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3)	SPG11, KIAA1840, FLJ21439, ALS5, CMT2X	610844	15q21.1
Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3)	MORC2, ZCW3, ZCWCC1, KIAA0852, CMT2Z, DIGFAN	616661	22q12.2
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)	GDAP1, CMT4A, CMT2K, CMTRIA	606598	8q21.11
Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279 (3)	PMP2, CMT1G	170715	8q21.13
Charcot-Marie-Tooth disease, demyelinating, type 1H, 619764 (3)	FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD, CMT1H	604580	14q32.12
Charcot-Marie-Tooth disease, demyelinating, type 1I, 619742 (3)	POLR3B, RPC2, C128, HLD8, CMT1I	614366	12q23.3
Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)	DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5	602378	19p13.2
Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)	YARS1, YARS, CMTDIC, TYRRS, YTS, YRS, IMNEPD2	603623	1p35.1
Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3)	MPZ, CMT1B, CMTDID, DSS, CHN2	159440	1q23.3
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)	INF2, FSGS5, C14orf173, CMTDIE	610982	14q32.33
Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)	GNB4, CMTD1F	610863	3q26.33
Charcot-Marie-Tooth disease, dominant intermediate G, 617882 (3)	NEFL, CMT2E, CMT1F, CMTDIG	162280	8p21.2
Charcot-Marie-Tooth disease, foot deformity of, 192950 (3)	HOXD10, HOX4D	142984	2q31.1
Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)	PLEKHG5, KIAA0720, DSMA4, CMTRIC	611101	1p36.31
Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3)	COX6A1, CMTRID	602072	12q24.31
Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)	GDAP1, CMT4A, CMT2K, CMTRIA	606598	8q21.11
Charcot-Marie-Tooth disease, type 1A, 118220 (3)	PMP22, CMT1A, CMT1E, DSS, CIDP	601097	17p12
Charcot-Marie-Tooth disease, type 1B, 118200 (3)	MPZ, CMT1B, CMTDID, DSS, CHN2	159440	1q23.3
Charcot-Marie-Tooth disease, type 1C, 601098 (3)	LITAF, CMT1C	603795	16p13.13
Charcot-Marie-Tooth disease, type 1D, 607678 (3)	EGR2, KROX20, CHN1	129010	10q21.3
Charcot-Marie-Tooth disease, type 1E, 118300 (3)	PMP22, CMT1A, CMT1E, DSS, CIDP	601097	17p12
Charcot-Marie-Tooth disease, type 1F, 607734 (3)	NEFL, CMT2E, CMT1F, CMTDIG	162280	8p21.2
Charcot-Marie-Tooth disease, type 2A1, 118210 (3)	KIF1B, CMT2A, CMT2A1, NBLST1	605995	1p36.22
Charcot-Marie-Tooth disease, type 2B, 600882 (3)	RAB7, CMT2B, PSN	602298	3q21.3
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)	LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS	150330	1q22
Charcot-Marie-Tooth disease, type 2D, 601472 (3)	GARS1, GARS, SMAD1, CMT2D, HMN5A, SMAJI	600287	7p14.3
Charcot-Marie-Tooth disease, type 2E, 607684 (3)	NEFL, CMT2E, CMT1F, CMTDIG	162280	8p21.2
Charcot-Marie-Tooth disease, type 2I, 607677 (3)	MPZ, CMT1B, CMTDID, DSS, CHN2	159440	1q23.3
Charcot-Marie-Tooth disease, type 2J, 607736 (3)	MPZ, CMT1B, CMTDID, DSS, CHN2	159440	1q23.3
Charcot-Marie-Tooth disease, type 2R, 615490 (3)	TRIM2, KIAA0517, CMT2R	614141	4q31.3
Charcot-Marie-Tooth disease, type 2Y, 616687 (3)	VCP, IBMPFD1, CMT2Y, FTDALS6	601023	9p13.3
Charcot-Marie-Tooth disease, type 4A, 214400 (3)	GDAP1, CMT4A, CMT2K, CMTRIA	606598	8q21.11
Charcot-Marie-Tooth disease, type 4B1, 601382 (3)	MTMR2, CMT4B1	603557	11q21
Charcot-Marie-Tooth disease, type 4B2, 604563 (3)	SBF2, MTMR13, CMT4B2	607697	11p15.4
Charcot-Marie-Tooth disease, type 4B3, 615284 (3)	SBF1, MTMR5, CMT4B3	603560	22q13.33
Charcot-Marie-Tooth disease, type 4C, 601596 (3)	SH3TC2, KIAA1985, MNMN	608206	5q32
Charcot-Marie-Tooth disease, type 4D, 601455 (3)	NDRG1, HMSNL, CMT4D	605262	8q24.22
Charcot-Marie-Tooth disease, type 4F, 614895 (3)	PRX, CMT4F	605725	19q13.2
Charcot-Marie-Tooth disease, type 4H, 609311 (3)	FGD4, FRABIN, CMT4H	611104	12p11.21
Charcot-Marie-Tooth disease, type 4J, 611228 (3)	FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP	609390	6q21
Charcot-Marie-Tooth disease, type 4K, 616684 (3)	SURF1, CMT4K, MC4DN1	185620	9q34.2
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3)	GJB1, CX32, CMTX1	304040	Xq13.1
Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 (2)	CMTX2	302801	Xp22.2
Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 (4)	CMTX3	302802	Xq26
Chediak-Higashi syndrome, 214500 (3)	LYST, CHS1	606897	1q42.3
Cherubism, 118400 (3)	SH3BP2, CRPM	602104	4p16.3
Chilblain lupus, 610448 (3)	TREX1, AGS1, CRV, HERNS, RVCLS	606609	3p21.31
Chilton-Okur-Chung neurodevelopmental syndrome, 619841 (3)	CDC42BPB, MRCKB, CHOCNS	614062	14q32.32
Chitayat syndrome, 617180 (3)	ERF, PE2, CRS4, CHYTS	611888	19q13.2
Choanal atresia and lymphedema, 613611 (3)	PTPN14, PEZ, CATLPH	603155	1q32.3-q41
Cholangitis, primary sclerosing (2)	PSC	613806	3p21
Cholestasis, benign recurrent intrahepatic, 2, 605479 (3)	ABCB11, BSEP, SPGP, PFIC2, BRIC2	603201	2q31.1
Cholestasis, benign recurrent intrahepatic, 243300 (3)	ATP8B1, FIC1, BRIC, PFIC1, ICP1	602397	18q21.31
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)	ATP8B1, FIC1, BRIC, PFIC1, ICP1	602397	18q21.31
Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)	ABCB4, PGY3, MDR3, ICP3	171060	7q21.12
Cholestasis, progressive familial intrahepatic 1, 211600 (3)	ATP8B1, FIC1, BRIC, PFIC1, ICP1	602397	18q21.31
Cholestasis, progressive familial intrahepatic 2, 601847 (3)	ABCB11, BSEP, SPGP, PFIC2, BRIC2	603201	2q31.1
Cholestasis, progressive familial intrahepatic 3, 602347 (3)	ABCB4, PGY3, MDR3, ICP3	171060	7q21.12
Cholestasis, progressive familial intrahepatic 4, 615878 (3)	TJP2, ZO2, PFIC4, FHCA1	607709	9q21.11
Cholestasis, progressive familial intrahepatic, 10, 619868 (3)	MYO5B, KIAA1119, DIAR2, MVID1, PFIC10	606540	18q21.1
Cholestasis, progressive familial intrahepatic, 5, 617049 (3)	NR1H4, FXR, RIP14, PFIC5	603826	12q23.1
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, 619658 (3)	USP53, KIAA1350, PFIC7	617431	4q26
Cholestasis, progressive familial intrahepatic, 8, 619662 (3)	KIF12, PFIC8	611278	9q32
Cholestasis, progressive familial intrahepatic, 9, 619849 (3)	ZFYVE19, ANCHR, PFIC9	619635	15q15.1
Cholestasis-lymphedema syndrome (2)	LCS1, CHLS	214900	15q
Cholesteryl ester storage disease, 278000 (3)	LIPA, CESD	613497	10q23.31
Chondrocalcinosis 2, 118600 (3)	ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD	605145	5p15.2
Chondrocalcinosis with early-onset osteoarthritis (2)	CCAL1	600668	8q
Chondrodysplasia punctata, X-linked dominant, 302960 (3)	EBP, CDPX2, CPXD, CPX, MEND	300205	Xp11.23
Chondrodysplasia punctata, X-linked recessive, 302950 (3)	ARSE, CDPX1, CDPXR	300180	Xp22.33
Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3)	IMPAD1, GPAPP, IMPA3	614010	8q12.1
Chondrodysplasia, Blomstrand type, 215045 (3)	PTH1R, PTHR1, PTHR, PFE, EKNS	168468	3p21.31
Chondrosarcoma, 215300 (3)	EXT1	608177	8q24.11
Chondrosarcoma, extraskeletal myxoid, 612237 (1)	TAF15, TAF2N, RBP56	601574	17q12
Chondrosarcoma, extraskeletal myxoid, 612237 (3)	CSMF	600542	9q31.1
Chopra-Amiel-Gordon syndrome, 619504 (3)	ANKRD17, GTAR, CAGS	615929	4q13.3
Chorea, hereditary benign, 118700 (3)	NKX2-1, TITF1, NKX2A, TTF1, NMTC1	600635	14q13.3
Choreoacanthocytosis, 200150 (3)	VPS13A, CHAC	605978	9q21.2
Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3)	NKX2-1, TITF1, NKX2A, TTF1, NMTC1	600635	14q13.3
Chorioretinal atrophy, progressive bifocal, 600790 (3)	DHS6S1, MCDR1, PBCRA	616842	6q16.2
Choroidal dystrophy, central areolar 2, 613105 (3)	PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1	179605	6p21.1
Choroideremia, 303100 (3)	CHM, TCD	300390	Xq21.2
Chromosome 10q22.3-q23.2 deletion syndrome (4)	DEL10q23, C10DELq23	612242	10q23
Chromosome 10q26 deletion syndrome (4)	DEL10q26, C10q26DEL	609625	10q26
Chromosome 11p13 deletion syndrome, distal, 616902 (4)	DEL11p13, C11DELp13	616902	11p13
Chromosome 11p15-p14 deletion syndrome (4)	DEL11p15p14, C11DELp15p14	606528	11p15-p14
Chromosome 13q14 deletion syndrome (4)	DEL13q14, C13DELq14	613884	13q14
Chromosome 13q33-q34 deletion syndrome (4)	DEL13q33q34, C13DELq33q34	619148	13q33-q34
Chromosome 14q11-q22 deletion syndrome (4)	DEL14q11q22, C14DELq11q22	613457	14q11-q22
Chromosome 15q11.2 deletion syndrome (4)	DEL15q11.2, C15DELq11.2	615656	15q11.2
Chromosome 15q13.3 microdeletion syndrome (4)	DEL15q13.3, MICRODEL15q13.3	612001	15q13.3
Chromosome 15q14 deletion syndrome (4)	DEL15q14, C15DELq14	616898	15q14
Chromosome 15q25 deletion syndrome (4)	DEL15q25, C15DELq25	614294	15q25
Chromosome 15q26-qter deletion syndrome (4)	DEL15q26qter, C15DELq26qter	612626	15q26-qter
Chromosome 16p11.2 deletion syndrome, 220kb (4)	BMIQ16, DEL16p.11.2, C16DELp11.2	613444	16p11.2
Chromosome 16p11.2 deletion syndrome, 593kb (4)	DEL16p11.2, C16DELp11.2, AUTS14A	611913	16p11.2
Chromosome 16p11.2 duplication syndrome (4)	DUP16p11.2, C16DUPp11.2, AUTS14B	614671	16p11.2
Chromosome 16p12.1 deletion syndrome, 520kb (4)	DEL16p12.1, C16DELp12.1	136570	16p12
Chromosome 16p12.2-p11.2 deletion syndrome (4)	DEL16p12.1p11.2, C16DELp12.1p11.2	613604	16p12.2-p11.2
Chromosome 16p13.3 deletion syndrome (4)	DEL16p13.3, RSTSS	610543	16p13.3
Chromosome 16p13.3 duplication syndrome (4)	DUP16p13.3, C16DUPq13.3	613458	16p13.3
Chromosome 16q12 duplication syndrome (4)	C16DUPq12, DUP16q12	619649	16q12
Chromosome 16q22 deletion syndrome (4)	C16DELq22, DEL16q22	614541	16q22
Chromosome 17p13.1 deletion syndrome (4)	DEL17p13.1, C17DELp13.1	613776	17p13.1
Chromosome 17p13.3 duplication syndrome (4)	DUP17p13.3, C17DUPp13.3	613215	17p13.3
Chromosome 17q11.2 deletion syndrome, 1.4Mb (4)	DEL17q11.2, C17DELq11.2	613675	17q11.2
Chromosome 17q11.2 duplication syndrome, 1.4-Mb (4)	DUP17q11.2, C17DUPq11.2	618874	17q11.2
Chromosome 17q12 deletion syndrome (4)	DEL17q12, C17DELq12	614527	17q12
Chromosome 17q12 duplication syndrome (4)	DUP17q12, C17DUPq12	614526	17q12
Chromosome 17q21.31 duplication syndrome (4)	DUP17q21.31, C17DUPq21.31	613533	17q21.31
Chromosome 17q23.1-q23.2 deletion syndrome (4)	DEL17q23.1q23.2, C17DELq23.1q23.2	613355	17q23.1-q23.2
Chromosome 17q23.1-q23.2 duplication syndrome (4)	DUP17q23.1q23.2, C17DUPq23.1q23.2	613618	17q23.1-q23.2
Chromosome 18 pericentric inversion (4)	DUP18pDEL18q, DUP18qDEL18p	609334	18q22
Chromosome 18p deletion syndrome (4)	DEL18p, C18DELp	146390	18p
Chromosome 18q deletion syndrome (4)	DEL18q	601808	18q
Chromosome 19p13.13 deletion syndrome (4)	DEL19p13.13, C19DELp13.13, DUP19p13.13, C19DUPp13.13	613638	19p13.13
Chromosome 19p13.13 duplication syndrome (4)	DEL19p13.13, C19DELp13.13, DUP19p13.13, C19DUPp13.13	613638	19p13.13
Chromosome 19q13.11 deletion syndrome, distal (4)	DEL19q13.11d, C19DELq13.11d	613026	19q13.11
Chromosome 19q13.11 deletion syndrome, proximal (4)	DEL19q13.11p, C19DELq13.11p	617219	19q13.11
Chromosome 1p35 deletion syndrome (4)	C1DELp35, DEL1p35	617930	1p35
Chromosome 1p36 deletion syndrome, distal (4)	DEL1p36, C1DELp36	607872	1p36
Chromosome 1p36 deletion syndrome, proximal (4)	DEL1p36, C1DELp36	619343	1p36
Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster (4)	C1DUPp36.33, DUP1p36.33	618815	1p36.33
Chromosome 1q21.1 deletion syndrome (4)	DEL1q21, C1DELq21	612474	1q21.1
Chromosome 1q21.1 duplication syndrome (4)	DUP1q21, C1DUPq21	612475	1q21.1
Chromosome 1q41-q42 deletion syndrome (4)	DEL1q41q42, C1DELq41q42	612530	1q41-q42
Chromosome 22q11.2 deletion syndrome, distal (4)	DEL22q11.2, C22DELq11.2	611867	22q11.2
Chromosome 22q11.2 microduplication syndrome (4)	DUP22q11.2	608363	22q11.2
Chromosome 22q13 duplication syndrome, 615538 (4)	DUP22q13, C22DUPq13	615538	22q13
Chromosome 2p12-p11.2 deletion syndrome (4)	DEL2p12p11.2, C2DELp12p11.2	613564	2p12-p11.2
Chromosome 2p16.1-p15 deletion syndrome (4)	DEL2p16.1-p15, C2DELp161-p15	612513	2p16.1-p15
Chromosome 2q31.1 duplication syndrome (4)	DUP2q31.1, C2DUPq31.1	613681	2q31.1
Chromosome 2q31.2 deletion syndrome (4)	DEL2q31	612345	2q31.2
Chromosome 2q37 deletion syndrome (4)	BDMR, C2DELq37, DEL2q37	600430	2q37
Chromosome 3q13.31 deletion syndrome (4)	DEL3q13.31, C13DELq13.31	615433	3q13.31
Chromosome 3q29 microdeletion syndrome (4)	DEL3q29, MICRODEL3q29	609425	3q29
Chromosome 3q29 microduplication syndrome (4)	DUP3q29, MICRODUP3q29	611936	3q29
Chromosome 4q21 deletion syndrome (4)	DEL4q21, C4DELq21	613509	4q21
Chromosome 4q32.1-q32.2 triplication syndrome (4)	TRIP4q32.1q32.2, C4TRIPq32.1q32.2	613603	4q32.1-q32.2
Chromosome 5p13 duplication syndrome (4)	DUP5p13, C5DUPp13	613174	5p13
Chromosome 5q12 deletion syndrome (4)	DEL5q12, C5DELq12	615668	5q12
Chromosome 5q14.3 deletion syndrome, 613443 (4)	MEF2C, C5DELq14.3, DEL5q14.3, NEDHSIL	600662	5q14.3
Chromosome 6pter-p24 deletion syndrome (4)	DEL6pter, C6DELpter	612582	6pter-p24
Chromosome 6q11-q14 deletion syndrome (4)	DEL6q11q14, C6DELq11q14	613544	6q11-q14
Chromosome 6q25-q25 deletion syndrome (4)	DEL6q24q25, C6DELq25q25	612863	6q24-q25
Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb (4)	DEL7q11.23, C7DELq11.23	613729	7q11.23
Chromosome 7q11.23 duplication syndrome (4)	DUP7q11.23, C7DUPq11.23	609757	7q11.23
Chromosome 8p11 myeloproliferative syndrome (4)	SCLL	613523	8p11
Chromosome 8q21.11 deletion syndrome (4)	DEL8q21.11, C8DELq21.11	614230	8q21.11
Chromosome 9p deletion syndrome (4)	DEL9p, C9DELp	158170	9p
Chromosome Xp11.23-p11.22 duplication syndrome (4)	DUPXp11.23p11.22, CXDUPp11.23p11.22	300801	Xp11.23-p11.22
Chromosome Xp11.3 deletion syndrome (4)	DELXp11.3, CXDELp11.3	300578	Xp11.3
Chromosome Xp21 deletion syndrome (4)	DELXp21, CXDELp21	300679	Xp21
Chromosome Xq13 duplication syndrome (4)	DUPXq13	301069	Xq13.2-q13.3
Chromosome Xq26.3 duplication syndrome (4)	CXDUPq26.3, DUPXq26.3, XLAG	300942	Xq26.3
Chromosome Xq27.3-q28 duplication syndrome (4)	DUPXq27.3q28, CXDUPq27.3q28	300869	Xq27.3-q28
Chromosome Xq28 duplication syndrome (4)	DUPXq28, CXq28	300815	Xq28
Chronic atrial and intestinal dysrhythmia, 616201 (3)	SGOL1, SGO, SGO1, CAID	609168	3p24.3
Chronic granulomatous disease 1, autosomal recessive, 233700 (3)	NCF1, CGD1	608512	7q11.23
Chronic granulomatous disease 2, autosomal recessive, 233710 (3)	NCF2	608515	1q25.3
Chronic granulomatous disease 3, autosomal recessive, 613960 (3)	NCF4, P40PHOX, CGD3	601488	22q12.3
Chronic granulomatous disease 4, autosomal recessive, 233690 (3)	CYBA, CGD4	608508	16q24.2
Chronic granulomatous disease 5, autosomal recessive, 618935 (3)	CYBC1, EROS, C17orf62, CGD5	618334	17q25.3
Chronic granulomatous disease, X-linked, 306400 (3)	CYBB, CGDX, AMCBX2, IMD34	300481	Xp21.1-p11.4
Chudley-McCullough syndrome, 604213 (3)	GPSM2, LGN, PINS, DFNB82, CMCS	609245	1p13.3
Chung-Jansen syndrome, 617991 (3)	PHIP, CHUJANS, DIDOD	612870	6q14.1
Chylomicron retention disease, 246700 (3)	SAR1B, CMRD, SARA2, ANDD	607690	5q31.1
Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)	DNAI1, CILD1, ICS, PCD	604366	9p13.3
Ciliary dyskinesia, primary, 10, 612518 (3)	DNAAF2, KTU, C14orf104, CILD10	612517	14q21.3
Ciliary dyskinesia, primary, 11, 612649 (3)	RSPH4A, CILD11	612647	6q22.1
Ciliary dyskinesia, primary, 12, 612650 (3)	RSPH9, CILD12	612648	6p21.1
Ciliary dyskinesia, primary, 13, 613193 (3)	DNAAF1, LRRC50, ODA7, CILD13	613190	16q24.1
Ciliary dyskinesia, primary, 14, 613807 (3)	CCDC39	613798	3q26.33
Ciliary dyskinesia, primary, 15, 613808 (3)	CCDC40, KIAA1640	613799	17q25.3
Ciliary dyskinesia, primary, 16, 614017 (3)	DNAL1, C14orf168, CILD16	610062	14q24.3
Ciliary dyskinesia, primary, 17, 614679 (3)	CCDC103, SMH, PR46B, CILD17	614677	17q21.31
Ciliary dyskinesia, primary, 18, 614874 (3)	DNAAF5, HEATR2, CILD18	614864	7p22.3
Ciliary dyskinesia, primary, 19, 614935 (3)	LRRC6, LRTP, CILD19	614930	8q24.22
Ciliary dyskinesia, primary, 2, 606763 (3)	DNAAF3, PF22, DAB1, CILD2	614566	19q13.42
Ciliary dyskinesia, primary, 20, 615067 (3)	ODAD1, CCDC114, CILD20	615038	19q13.33
Ciliary dyskinesia, primary, 21, 615294 (3)	DRC1, CCDC164, C2orf39, CILD21	615288	2p23.3
Ciliary dyskinesia, primary, 22, 615444 (3)	ZMYND10, BLU	607070	3p21.31
Ciliary dyskinesia, primary, 23, 615451 (3)	ODAD2, ARMC4, CILD23	615408	10p12.1
Ciliary dyskinesia, primary, 24, 615481 (3)	RSPH1, TSGA2, TSA2, CILD24	609314	21q22.3
Ciliary dyskinesia, primary, 25, 615482 (3)	DNAAF4, DYX1C1, DYXC1, DYX1, CILD25	608706	15q21.3
Ciliary dyskinesia, primary, 26, 615500 (3)	CFAP298, C21orf59, CILD26	615494	21q22.11
Ciliary dyskinesia, primary, 27, 615504 (3)	CCDC65, CILD27	611088	12q13.12
Ciliary dyskinesia, primary, 28, 615505 (3)	SPAG1, CILD28	603395	8q22.2
Ciliary dyskinesia, primary, 29, 615872 (3)	CCNO, UNG2, CILD29	607752	5q11.2
Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)	DNAH5, HL1, PCD, CILD3	603335	5p15.2
Ciliary dyskinesia, primary, 30, 616037 (3)	ODAD2, CCDC151, CILD30	615956	19p13.2
Ciliary dyskinesia, primary, 32, 616481 (3)	RSPH3, RSHL2, RSP3, CILD32	615876	6q25.3
Ciliary dyskinesia, primary, 33, 616726 (3)	GAS8, GAS11, CILD33	605178	16q24.3
Ciliary dyskinesia, primary, 34, 617091 (3)	DNAJB13, TSARG6, CILD34	610263	11q13.4
Ciliary dyskinesia, primary, 35, 617092 (3)	TTC25, CILD35	617095	17q21.2
Ciliary dyskinesia, primary, 36, X-linked, 300991 (3)	PIH1D3, CILD36	300933	Xq22.3
Ciliary dyskinesia, primary, 38, 618063 (3)	CFAP300, C11orf70, CILD38	618058	11q22.1
Ciliary dyskinesia, primary, 39, 618254 (3)	LRRC56, CILD39	618227	11p15.5
Ciliary dyskinesia, primary, 4 (2)	CILD4	608646	15q13.1-q15.1
Ciliary dyskinesia, primary, 40, 618300 (3)	DNAH9, DNAH17L, DNEL1, CILD40	603330	17p12
Ciliary dyskinesia, primary, 42, 618695 (3)	MCIDAS, IDAS, CILD42	614086	5q11.2
Ciliary dyskinesia, primary, 43, 618699 (3)	FOXJ1, FKHL13, HFH4, CILD43	602291	17q25.1
Ciliary dyskinesia, primary, 44, 618781 (3)	NEK10, CILD44	618726	3p24.1
Ciliary dyskinesia, primary, 45, 618801 (3)	TTC12, TPARM, CILD45	610732	11q23.2
Ciliary dyskinesia, primary, 47, and lissencephaly, 619466 (3)	TP73, CILD47	601990	1p36.32
Ciliary dyskinesia, primary, 5, 608647 (3)	HYDIN, HYDIN1, CILD5	610812	16q22.2
Ciliary dyskinesia, primary, 6, 610852 (3)	NME8, TXNDC3, SPTRX2, CILD6	607421	7p14.1
Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)	DNAH11, DNAHC11, CILD7, DNAHBL	603339	7p15.3
Ciliary dyskinesia, primary, 8 (2)	CILD8	612274	15q24-q25
Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)	DNAI2, CILD9	605483	17q25.1
Cirrhosis, cryptogenic, 215600 (3)	KRT18	148070	12q13.13
Cirrhosis, cryptogenic, 215600 (3)	KRT8	148060	12q13.13
Citrullinemia, 215700 (3)	ASS1, ASS	603470	9q34.11
Citrullinemia, adult-onset type II, 603471 (3)	SLC25A13, CTLN2, NICCD	603859	7q21.3
Citrullinemia, type II, neonatal-onset, 605814 (3)	SLC25A13, CTLN2, NICCD	603859	7q21.3
Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)	NECTIN1, PVRL1, HVEC, PVRR1, PRR1, ED4, OFC7, CLPED1	600644	11q23.3
Cleft palate with ankyloglossia, 303400 (3)	TBX22, CPX, ABERS	300307	Xq21.1
Cleft palate, cardiac defects, and mental retardation, 600987 (3)	MEIS2, MRG1, CPCMR	601740	15q14
Cleft palate, proliferative retinopathy, and developmental delay, 619074 (3)	LRRC32, GARP, D11S833E, CPPRDD	137207	11q13.5
Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3)	KDM1A, LSD1, AOF2, BHC110, KIAA0601, CPRF	609132	1p36.12
Cleidocranial dysplasia, 119600 (3)	RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD	600211	6p21.1
Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3)	RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD	600211	6p21.1
Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3)	RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD	600211	6p21.1
Clopidogrel, impaired responsiveness to, 609535 (3)	CYP2C, CYP2C19	124020	10q23.33
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3)	PITX1, PTX1, BFT, POTX, CCF, LBNBG	602149	5q31.1
Cockayne syndrome, type A, 216400 (3)	ERCC8, CKN1, CSA, UVSS2	609412	5q12.1
Cockayne syndrome, type B, 133540 (3)	ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11	609413	10q11.23
Coenzyme Q10 deficiency, primary, 1, 607426 (3)	COQ2, COQ10D1, MSA1	609825	4q21.23
Coenzyme Q10 deficiency, primary, 2, 614651 (3)	PDSS1, TPT, COQ1, COQ10D2	607429	10p12.1
Coenzyme Q10 deficiency, primary, 3, 614652 (3)	PDSS2, DLP1, C6orf210, COQ10D3	610564	6q21
Coenzyme Q10 deficiency, primary, 4, 612016 (3)	ADCK3, COQ8, CABC1, SCAR9, ARCA2, COQ10D4	606980	1q42.13
Coenzyme Q10 deficiency, primary, 5, 614654 (3)	COQ9, C16orf49, COQ10D5	612837	16q21
Coenzyme Q10 deficiency, primary, 6, 614650 (3)	COQ6, CGI10, COQ10D6	614647	14q24.3
Coenzyme Q10 deficiency, primary, 7, 616276 (3)	COQ4, COQ10D7	612898	9q34.11
Coffin-Lowry syndrome, 303600 (3)	RPS6KA3, RSK2, XLID19	300075	Xp22.12
Coffin-Siris syndrome 1, 135900 (3)	ARID1B, BAF250B, KIAA1235, MRD12, CSS1	614556	6q25.3
Coffin-Siris syndrome 10, 618506 (3)	SOX4, CSS10	184430	6p22.3
Coffin-Siris syndrome 11, 618779 (3)	SMARCD1, BAF60A, CSS11	601735	12q13.12
Coffin-Siris syndrome 12, 619325 (3)	BICRA, GLTSCR1, CSS12	605690	19q13.33
Coffin-Siris syndrome 2, 614607 (3)	ARID1A, C1orf4, B120, SMARCF1, MRD14, CSS2	603024	1p36.11
Coffin-Siris syndrome 3, 614608 (3)	SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3	601607	22q11.23
Coffin-Siris syndrome 4, 614609 (3)	SMARCA4, BRG1, RTPS2, MRD16, CSS4	603254	19p13.2
Coffin-Siris syndrome 5, 616938 (3)	SMARCE1, BAF57, CSS5	603111	17q21.2
Coffin-Siris syndrome 6, 617808 (3)	ARID2, BAF200, KIAA1557, CSS6	609539	12q12
Coffin-Siris syndrome 7, 618027 (3)	DPF2, REQ, UBID4, CSS7	601671	11q13.1
Coffin-Siris syndrome 8, 618362 (3)	SMARCC2, BAF170, CSS8	601734	12q13.2
Coffin-Siris syndrome 9, 615866 (3)	SOX11, MRD27, CSS9	600898	2p25.2
Cognitive impairment with or without cerebellar ataxia, 614306 (3)	SCN8A, CIAT, DEE13, BFIS5, MYOCL2	600702	12q13.13
Cohen syndrome, 216550 (3)	VPS13B, KIAA0532, COH1	607817	8q22.2
Cohen-Gibson syndrome, 617561 (3)	EED, WAIT1, COGIS	605984	11q14.2
Cold-induced sweating syndrome 1, 272430 (3)	CRLF1, CISS1	604237	19p13.11
Cold-induced sweating syndrome 2, 610313 (3)	CLCF1, BSF3, CLC, CISS2	607672	11q13.2
Cole disease, 615522 (3)	ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED	173335	6q23.2
Cole-Carpenter syndrome 1, 112240 (3)	P4HB, PROHB, CLCRP1	176790	17q25.3
Cole-Carpenter syndrome 2, 616294 (3)	SEC24D, KIAA0755, CLCRP2	607186	4q26
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 (3)	YAP1, COB1	606608	11q22.1
Colon cancer, advanced, somatic, 114500 (3)	SRC, ASV, SRC1, THC6	190090	20q11.23
Colon cancer, somatic, 114500 (3)	PTPN12, PTPG1	600079	7q11.23
Colon cancer, somatic, 114500 (3)	PTPRJ, DEP1	600925	11p11.2
Colon cancer, somatic, 114500 (3)	RAD54B	604289	8q22.1
Colorblindness, deutan, 303800 (3)	OPN1MW, GCP, CBD, CBBM	300821	Xq28
Colorblindness, protan, 303900 (3)	OPN1LW, RCP, CBP, CBBM	300822	Xq28
Colorblindness, tritan, 190900 (3)	OPN1SW, BCP, CBT	613522	7q32.1
Colorectal cancer with chromosomal instability, somatic, 114500 (3)	BUB1	602452	2q13
Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3)	MSH2, COCA1, FCC1, HNPCC1, MMRCS2	609309	2p21-p16.3
Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3)	MLH1, COCA2, HNPCC2, MMRCS1	120436	3p22.2
Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)	PMS2, PMSL2, HNPCC4, MMRCS4	600259	7p22.1
Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)	MSH6, GTBP, HNPCC5, MMRCS3	600678	2p16.3
Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3)	TGFBR2, HNPCC6, AAT3, MFS2, LDS2	190182	3p24.1
Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)	MLH3, HNPCC7	604395	14q24.3
Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3)	EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8	185535	2p21
Colorectal cancer, somatic, 114500 (3)	AKT1, CWS6	164730	14q32.33
Colorectal cancer, somatic, 114500 (3)	APC, GS, FPC, BTPS2, DESMD	611731	5q22.2
Colorectal cancer, somatic, 114500 (3)	AXIN2, ODCRCS	604025	17q24.1
Colorectal cancer, somatic, 114500 (3)	BAX	600040	19q13.33
Colorectal cancer, somatic, 114500 (3)	BRAF, NS7	164757	7q34
Colorectal cancer, somatic, 114500 (3)	BUB1B, BUBR1, MVA1	602860	15q15.1
Colorectal cancer, somatic, 114500 (3)	CTNNB1, NEDSDV, EVR7	116806	3p22.1
Colorectal cancer, somatic, 114500 (3)	DCC, MRMV1, HGPPS2	120470	18q21.2
Colorectal cancer, somatic, 114500 (3)	DLC1	604258	8p22
Colorectal cancer, somatic, 114500 (3)	EP300, RSTS2, MKHK2	602700	22q13.2
Colorectal cancer, somatic, 114500 (3)	FGFR3, ACH	134934	4p16.3
Colorectal cancer, somatic, 114500 (3)	FLCN, BHD	607273	17p11.2
Colorectal cancer, somatic, 114500 (3)	MCC	159350	5q22.2
Colorectal cancer, somatic, 114500 (3)	MLH3, HNPCC7	604395	14q24.3
Colorectal cancer, somatic, 114500 (3)	NRAS, ALPS4, NS6, CMNS, NCMS	164790	1p13.2
Colorectal cancer, somatic, 114500 (3)	PDGFRL, PDGRL, PRLTS	604584	8p22
Colorectal cancer, somatic, 114500 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
Combined C6/C7 deficiency (3)	C6	217050	5p13.1
Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)	SLC25A1, SLC20A3, CTP, D2L2AD, CMS23	190315	22q11.21
Combined SAP deficiency, 611721 (3)	PSAP, SAP1, PSAPD, PARK24	176801	10q22.1
Combined cellular and humoral immune defects with granulomas, 233650 (3)	RAG1	179615	11p12
Combined cellular and humoral immune defects with granulomas, 233650 (3)	RAG2	179616	11p12
Combined factor V and VIII deficiency, 227300 (3)	LMAN1, ERGIC53, F5F8D, MCFD1	601567	18q21.32
Combined hyperlipidemia, familial, 144250 (3)	LPL, LIPD, HDLCQ11	609708	8p21.3
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)	MTHFD1, MTHFC, CIMAH	172460	14q23.3
Combined immunodeficiency, X-linked, moderate, 312863 (3)	IL2RG, SCIDX1, SCIDX, IMD4	308380	Xq13.1
Combined malonic and methylmalonic aciduria, 614265 (3)	ACSF3	614245	16q24.3
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, 619115 (3)	COL1A1, OI1, OI2, OI3, OI4, EDSARTH1, CAFYD	120150	17q21.33
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, 619120 (3)	COL1A2, EDSCV, EDSARTH2	120160	7q21.3
Combined oxidative phosphorylation deficiency 1, 609060 (3)	GFM1, EFG1, GFM, COXPD1	606639	3q25.32
Combined oxidative phosphorylation deficiency 10, 614702 (3)	MTO1, COXPD10	614667	6q13
Combined oxidative phosphorylation deficiency 11, 614922 (3)	RMND1, COXPD11	614917	6q25.1
Combined oxidative phosphorylation deficiency 12, 614924 (3)	EARS2, KIAA1970, COXPD12	612799	16p12.2
Combined oxidative phosphorylation deficiency 13, 614932 (3)	PNPT1, OLD35, COXPD13, DFNB70	610316	2p16.1
Combined oxidative phosphorylation deficiency 14, 614946 (3)	FARS2, FARS1, COXPD14, SPG77	611592	6p25.1
Combined oxidative phosphorylation deficiency 15, 614947 (3)	MTFMT, COXPD15, MC1DN27	611766	15q22.31
Combined oxidative phosphorylation deficiency 16, 615395 (3)	MRPL44, COXPD16	611849	2q36.1
Combined oxidative phosphorylation deficiency 17, 615440 (3)	ELAC2, HPC2, COXPD17	605367	17p12
Combined oxidative phosphorylation deficiency 18, 615578 (3)	SFXN4, COXPD18	615564	10q26.11
Combined oxidative phosphorylation deficiency 2, 610498 (3)	MRPS16, COXPD2	609204	10q22.2
Combined oxidative phosphorylation deficiency 20, 615917 (3)	VARS2, KIAA1885, COXPD20	612802	6p21.33
Combined oxidative phosphorylation deficiency 21, 615918 (3)	TARS2, COXPD21	612805	1q21.2
Combined oxidative phosphorylation deficiency 23, 616198 (3)	GTPBP3, MSS1, COXPD23	608536	19p13.11
Combined oxidative phosphorylation deficiency 24, 616239 (3)	NARS2, COXPD24, DFNB94	612803	11q14.1
Combined oxidative phosphorylation deficiency 26, 616539 (3)	TRMT5, TRM5, KIAA1393, COXPD26	611023	14q23.1
Combined oxidative phosphorylation deficiency 27, 616672 (3)	CARS2, COXPD27	612800	13q34
Combined oxidative phosphorylation deficiency 28, 616794 (3)	SLC25A26, SAMC, COXPD28	611037	3p14.1
Combined oxidative phosphorylation deficiency 3, 610505 (3)	TSFM, COXPD3	604723	12q14.1
Combined oxidative phosphorylation deficiency 30, 616974 (3)	TRMT10C, RG9MTD1, MRPP1, COXPD30	615423	3q12.3
Combined oxidative phosphorylation deficiency 31, 617228 (3)	MIPEP, COXPD31	602241	13q12.12
Combined oxidative phosphorylation deficiency 32, 617664 (3)	MRPS34, MRPS12, COXPD32	611994	16p13.3
Combined oxidative phosphorylation deficiency 33, 617713 (3)	C1QBP, HABP1, COXPD33	601269	17p13.2
Combined oxidative phosphorylation deficiency 35, 617873 (3)	TRIT1, IPT, COXPD35	617840	1p34.2
Combined oxidative phosphorylation deficiency 36, 617950 (3)	MRPS2, COXPD36	611971	9q34.3
Combined oxidative phosphorylation deficiency 37, 618329 (3)	MICOS13, C19orf70, MIC13, QIL1	616658	19p13.3
Combined oxidative phosphorylation deficiency 39, 618397 (3)	GFM2, EFG2, RRF	606544	5q13.3
Combined oxidative phosphorylation deficiency 4, 610678 (3)	TUFM, EFTU, COXPD4	602389	16p11.2
Combined oxidative phosphorylation deficiency 40, 618835 (3)	QRSL1, GATA, COXPD40	617209	6q21
Combined oxidative phosphorylation deficiency 42, 618839 (3)	GATC, COXPD42	617210	12q24.31
Combined oxidative phosphorylation deficiency 44, 618855 (3)	FASTKD2, KIAA0971, COXPD44	612322	2q33.3
Combined oxidative phosphorylation deficiency 48, 619012 (3)	NSUN3, COXPD48	617491	3q11.2
Combined oxidative phosphorylation deficiency 5, 611719 (3)	MRPS22, C3orf5, COXPD5, ODG7	605810	3q23
Combined oxidative phosphorylation deficiency 52, 619386 (3)	NFS1, NIFS, COXPD52	603485	20q11.22
Combined oxidative phosphorylation deficiency 53, 619423 (3)	C2orf69, COXPD53	619219	2q33.1
Combined oxidative phosphorylation deficiency 54, 619737 (3)	PRORP, KIAA0391, COXPD54	609947	14q13.2
Combined oxidative phosphorylation deficiency 55, 619743 (3)	POLRMT, APOLMT, COXPD55	601778	19p13.3
Combined oxidative phosphorylation deficiency 6, 300816 (3)	AIFM1, PDCD8, AIF, COXPD6, COWCK, CMTX4, DFNX5, SEMDHL	300169	Xq26.1
Combined oxidative phosphorylation deficiency 7, 613559 (3)	MTRFR, C12orf65, COXPD7, SPG55	613541	12q24.31
Combined oxidative phosphorylation deficiency 8, 614096 (3)	AARS2, KIAA1270, MTALARS, COXPD8, LKENP	612035	6p21.1
Combined oxidative phosphorylation deficiency 9, 614582 (3)	MRPL3, MRL3, COXPD9	607118	3q22.1
Complement component 4, partial deficiency of, 120790 (3)	C1NH, HAE1, HAE2, SERPING1	606860	11q12.1
Complement factor D deficiency, 613912 (3)	CFD, ADN	134350	19p13.3
Complement factor H deficiency, 609814 (3)	CFH, HF1, HUS, ARMD4, AHUS1	134370	1q31.3
Complement factor I deficiency, 610984 (3)	CFI, FI, AHUS3, ARMD13	217030	4q25
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3)	CD55, DAF, CROM, CHAPLE	125240	1q32.2
Cone dystrophy 4, 613093 (3)	PDE6C, PDEA2, COD4	600827	10q23.33
Cone dystrophy, progressive X-linked, 2 (2)	COD2	300085	Xq27
Cone dystrophy-3, 602093 (3)	GUCA1A, GCAP, COD3, CORD14	600364	6p21.1
Cone-rod dystrophy 10, 610283 (3)	SEMA4A, SEMB, RP35, CORD10	607292	1q22
Cone-rod dystrophy 11, 610381 (3)	RAX2, RAXL1, QRX, CORD11, ARMD6	610362	19p13.3
Cone-rod dystrophy 12, 612657 (3)	PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4	604365	4p15.32
Cone-rod dystrophy 13, 608194 (3)	RPGRIP1, LCA6, CORD13	605446	14q11.2
Cone-rod dystrophy 14, 602093 (3)	GUCA1A, GCAP, COD3, CORD14	600364	6p21.1
Cone-rod dystrophy 15, 613660 (3)	CDHR1, PCDH21, PRCAD, CORD15, RP65	609502	10q23.1
Cone-rod dystrophy 16, 614500 (3)	CFAP418, C8orf37, CORD16, RP64, BBS21	614477	8q22.1
Cone-rod dystrophy 17 (2)	CORD17	615163	10q26
Cone-rod dystrophy 18, 615374 (3)	RAB28, CORD18	612994	4p15.33
Cone-rod dystrophy 19, 615860 (3)	TTLL5, STAMP, KIAA0998, CORD19	612268	14q24.3
Cone-rod dystrophy 20, 615973 (3)	POC1B, PIX1, CORD20	614784	12q21.33
Cone-rod dystrophy 21, 616502 (3)	DRAM2, TMEM77, CORD21	613360	1p13.3
Cone-rod dystrophy 22, 619531 (3)	TLCD3B, FAM57B, CORD22	615175	16p11.2
Cone-rod dystrophy 3, 604116 (3)	ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2	601691	1p22.1
Cone-rod dystrophy 5, 600977 (3)	PITPNM3, NIR1, CORD5	608921	17p13.2-p13.1
Cone-rod dystrophy 6, 601777 (3)	GUCY2D, GUC2D, LCA1, CORD6, RCD2, CACD1, CSNB1I	600179	17p13.1
Cone-rod dystrophy 7, 603649 (3)	RIMS1, RIM1, RIM, KIAA0340, CORD7	606629	6q13
Cone-rod dystrophy 8 (2)	CORD8	605549	1q12-q24
Cone-rod dystrophy 9, 612775 (3)	ADAM9, MDC9, MCMP, CORD9	602713	8p11.22
Cone-rod dystrophy and hearing loss 2, 618358 (3)	CEP250, CEP2, CNAP1, CRDHL2	609689	20q11.22
Cone-rod dystrophy and hearing loss, 617236 (3)	CEP78, CRDHL	617110	9q21.2
Cone-rod dystrophy, 604393 (3)	AIPL1, LCA4	604392	17p13.2
Cone-rod dystrophy, X-linked, 1, 304020 (3)	RPGR, RP3, CRD, RP15, COD1, CORDX1	312610	Xp11.4
Cone-rod dystrophy, X-linked, 3, 300476 (3)	CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2	300110	Xp11.23
Cone-rod retinal dystrophy-1 (2)	CORD1, CRD1	600624	18q21.1-q21.3
Cone-rod retinal dystrophy-2, 120970 (3)	CRX, CORD2, CRD, LCA7	602225	19q13.33
Cone-rod synaptic disorder syndrome, congenital nonprogressive, 618970 (3)	RIMS2, KIAA0751, RIM2, OBOE, CRSDS	606630	8q22.3
Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)	CABP4, CRSD, CSNB2B	608965	11q13.2
Congenital anomalies of kidney and urinary tract 1, 610805 (3)	DSTYK, KIAA0472, RIP5, DUSTYPK, CAKUT1, SPG23	612666	1q32.1
Congenital anomalies of kidney and urinary tract 2, 143400 (3)	TBX18, CAKUT2	604613	6q14.3
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 (3)	PBX1, CAKUHED	176310	1q23.3
Congenital arthrogryposis with anterior horn cell disease, 611890 (3)	GLE1, GLE1L, LCCS, LCCS1, CAAHD	603371	9q34.11
Congenital bilateral absence of vas deferens, 277180 (3)	CFTR, ABCC7, CF, MRP7	602421	7q31.2
Congenital bilateral absence of vas deferens, X-linked, 300985 (3)	ADGRG2, GPR64, HE6, CBAVDX	300572	Xp22.13
Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)	CTDP1, FCP1, CCFDN	604927	18q23
Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)	SLC33A1, ACATN, AT1, SPG42, CCHLND	603690	3q25.31
Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3)	NALCN, IHPRF1, CLIFAHDD	611549	13q32.3-q33.1
Congenital disorder of deglycosylation 1, 615273 (3)	NGLY1, PNG1, CDDG, CDG1V	610661	3p24.2
Congenital disorder of deglycosylation 2, 619775 (3)	MAN2C1, MANA, CDDG2	154580	15q24.2
Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)	FUT8, CDGF1	602589	14q23.3
Congenital disorder of glycosylation with defective fucosylation 2, 618324 (3)	FCSK, FUK, CDGF2	608675	16q22.1
Congenital disorder of glycosylation, type 2V, 619493 (3)	EDEM3, C1orf22, CDG2V	610214	1q25.3
Congenital disorder of glycosylation, type IIa, 212066 (3)	MGAT2, CDGS2, CDG2A	602616	14q21.3
Congenital disorder of glycosylation, type IIb, 606056 (3)	MOGS, GCS1, CDG2B	601336	2p13.1
Congenital disorder of glycosylation, type IIc, 266265 (3)	SLC35C1, FUCT1, CDG2C	605881	11p11.2
Congenital disorder of glycosylation, type IId, 607091 (3)	B4GALT1, GGTB2, GT1, GTB, CDG2D	137060	9p21.1
Congenital disorder of glycosylation, type IIe, 608779 (3)	COG7, CDG2E	606978	16p12.2
Congenital disorder of glycosylation, type IIf, 603585 (3)	SLC35A1, CST, CDG2F	605634	6q15
Congenital disorder of glycosylation, type IIg, 611209 (3)	COG1, LDLB, KIAA1381, CDG2G	606973	17q25.1
Congenital disorder of glycosylation, type IIh, 611182 (3)	COG8, DOR1, CDG2H	606979	16q22.1
Congenital disorder of glycosylation, type IIi, 613612 (3)	COG5, GOLTC1, GTC90, CDG2I	606821	7q22.3
Congenital disorder of glycosylation, type IIj, 613489 (3)	COG4, COD1, CDG2J, SWILS	606976	16q22.1
Congenital disorder of glycosylation, type IIk, 614727 (3)	TMEM165, FT27, CDG2K	614726	4q12
Congenital disorder of glycosylation, type IIl, 614576 (3)	COG6, COD2, KIAA1134, CDG2L, SHNS	606977	13q14.11
Congenital disorder of glycosylation, type IIm, 300896 (3)	SLC35A2, UGALT, UGTL, UGT2, CDGX, CDG2M	314375	Xp11.23
Congenital disorder of glycosylation, type IIn, 616721 (3)	SLC39A8, BIGM103, CDG2N	608732	4q24
Congenital disorder of glycosylation, type IIo, 616828 (3)	CCDC115, CCP1, CDG2O	613734	2q21.1
Congenital disorder of glycosylation, type IIp, 616829 (3)	TMEM199, VMA12, VPH2, C17orf32, CDG2P	616815	17q11.2
Congenital disorder of glycosylation, type IIr, 301045 (3)	ATP6AP2, ATP6M8-9, XMRE, MRXSH, XPDS, CDG2R	300556	Xp11.4
Congenital disorder of glycosylation, type IIt, 618885 (3)	GALNT2, CDG2T	602274	1q42.13
Congenital disorder of glycosylation, type IIw, 619525 (3)	SLC37A4, G6PT1, CDG2W	602671	11q23.3
Congenital disorder of glycosylation, type Ia, 212065 (3)	PMM2, CDG1A	601785	16p13.2
Congenital disorder of glycosylation, type Ib, 602579 (3)	MPI, PMI1, CDG1B	154550	15q24.1-q24.2
Congenital disorder of glycosylation, type Ic, 603147 (3)	ALG6, CDG1C	604566	1p31.3
Congenital disorder of glycosylation, type Icc, 301031 (3)	MAGT1, IAP, XMEN, CDG1CC	300715	Xq21.1
Congenital disorder of glycosylation, type Id, 601110 (3)	ALG3, NOT56L, CDGS4, CDG1D	608750	3q27.1
Congenital disorder of glycosylation, type Ie, 608799 (3)	DPM1, MPDS, CDGIE	603503	20q13.13
Congenital disorder of glycosylation, type If, 609180 (3)	MPDU1, SL15, CDGIF	604041	17p13.1
Congenital disorder of glycosylation, type Ig, 607143 (3)	ALG12, CDG1G	607144	22q13.33
Congenital disorder of glycosylation, type Ih, 608104 (3)	ALG8, CDG1H, PCLD3	608103	11q14.1
Congenital disorder of glycosylation, type Ii, 607906 (3)	ALG2, CDGII, CMSTA3, CMS14	607905	9q22.33
Congenital disorder of glycosylation, type Ij, 608093 (3)	DPAGT1, DPAGT2, DGPT, CDG1J, CMSTA2, CMS13	191350	11q23.3
Congenital disorder of glycosylation, type Ik, 608540 (3)	ALG1, HMAT1, HMT1, CDG1K	605907	16p13.3
Congenital disorder of glycosylation, type Il, 608776 (3)	ALG9, DIBD1, CDG1L, GIKANIS	606941	11q23.1
Congenital disorder of glycosylation, type Im, 610768 (3)	DOLK, TMEM15, DK1, SEC59, KIAA1094, CDG1M	610746	9q34.11
Congenital disorder of glycosylation, type In, 612015 (3)	RFT1, CDG1N	611908	3p21.1
Congenital disorder of glycosylation, type Ip, 613661 (3)	ALG11, KIAA1266, CDG1P	613666	13q14.3
Congenital disorder of glycosylation, type Iq, 612379 (3)	SRD5A3, SRD5A2L, CDG1Q, KRIZI	611715	4q12
Congenital disorder of glycosylation, type It, 614921 (3)	PGM1, GSD14, CDG1T	171900	1p31.3
Congenital disorder of glycosylation, type Iu, 615042 (3)	DPM2, CDG1U	603564	9q34.11
Congenital disorder of glycosylation, type Iw, autosomal dominant, 619714 (3)	STT3A, ITM1, TMC, CDG1WAR, CDG1WAD	601134	11q24.2
Congenital disorder of glycosylation, type Iw, autosomal recessive, 615596 (3)	STT3A, ITM1, TMC, CDG1WAR, CDG1WAD	601134	11q24.2
Congenital disorder of glycosylation, type Iy, 300934 (3)	SSR4, TRAPD, CDG1Y	300090	Xq28
Congenital heart defects and ectodermal dysplasia, 617364 (3)	PRKD1, PRKCM, PKD, CHDED	605435	14q12
Congenital heart defects and skeletal malformations syndrome, 617602 (3)	ABL1, CHDSKM	189980	9q34.12
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3)	CDK13, CDC2L5, CHED, CHDFIDD	603309	7p14.1
Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3)	WDPCP, C2orf86, BBS15, CHDTHP	613580	2p15
Congenital heart defects, multiple types, 3 (2)	CHDT3	614954	9q31.1
Congenital heart defects, multiple types, 4, 615779 (3)	NR2F2, TFCOUP2, ARP1, CHTD4, SRXX5	107773	15q26.2
Congenital heart defects, multiple types, 5, 617912 (3)	GATA5, CHTD5	611496	20q13.33
Congenital heart defects, multiple types, 6, 613854 (3)	GDF1, DTGA3, DORV, RAI, CHTD6	602880	19p13.11
Congenital heart defects, multiple types, 7, 618780 (3)	FLT4, VEGFR3, PCL, LMPHM1, CHTD7	136352	5q35.3
Congenital heart defects, multiple types, 8, with or without heterotaxy, 619657 (3)	SMAD2, MADH2, JV18, LDS6, CHTD8	601366	18q21.1
Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)	ZIC3, HTX1, HTX, VACTERLX	300265	Xq26.3
Congenital heart defects, nonsyndromic, 2, 614980 (3)	TAB2, MAP3K7IP2, KIAA0733, CHTD2	605101	6q25.1
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494 (3)	ATN1, DRPLA, HRS, NOD, CHEDDA	607462	12p13.31
Congenital myopathy with excess of muscle spindles, 218040 (3)	HRAS	190020	11p15.5
Congenital short bowel syndrome, 300048 (3)	FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2	300017	Xq28
Congenital short bowel syndrome, 615237 (3)	CLMP, ASAM, ACAM, CSBS	611693	11q24.1
Conotruncal anomaly face syndrome, 217095 (3)	TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR	602054	22q11.21
Conotruncal heart malformations, 217095 (3)	NKX2-6, CSX2, CTHM	611770	8p21.2
Conotruncal heart malformations, variable, 217095 (3)	NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2	600584	5q35.1
Contractural arachnodactyly, congenital, 121050 (3)	FBN2, CCA, EOMD	612570	5q23.3
Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, 178110 (3)	MYH3, DA2A, DA2B3, DA8, CPSFS1A, CPSFS1B	160720	17p13.1
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, 618469 (3)	MYH3, DA2A, DA2B3, DA8, CPSFS1A, CPSFS1B	160720	17p13.1
Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3)	PRRT2, PKC, DYT10, EKD1, BFIS2, BFIC2, ICCA	614386	16p11.2
Coproporphyria, 121300 (3)	CPOX, HARPO	612732	3q11.2
Cornea plana 1, autosomal dominant (2)	CNA1	121400	12q21.33
Cornea plana 2, autosomal recessive, 217300 (3)	KERA, CNA2	603288	12q21.33
Corneal dystrophy, Avellino type, 607541 (3)	TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD	601692	5q31.1
Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)	COL8A2, FECD1, PPCD2	120252	1p34.3
Corneal dystrophy, Fuchs endothelial, 2 (2)	FECD2, FCD1	610158	13pter-q12.13
Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)	TCF4, SEF2, ITF2, PTHS, FECD3	602272	18q21.2
Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)	SLC4A11, BTR1, NABC1, CHED, CDPD, FECD4	610206	20p13
Corneal dystrophy, Fuchs endothelial, 5 (2)	FECD5, FCD3	613269	5q33.1-q35.2
Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)	ZEB1, TCF8, NIL2A, PPCD3, FECD6	189909	10p11.22
Corneal dystrophy, Fuchs endothelial, 7 (2)	FECD7, FCD4	613271	9p24.1-p22.1
Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)	AGBL1, CCP4, FECD8	615496	15q25.3
Corneal dystrophy, Groenouw type I, 121900 (3)	TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD	601692	5q31.1
Corneal dystrophy, Lisch epithelial (2)	LECD	300778	Xp22.3
Corneal dystrophy, Reis-Bucklers type, 608470 (3)	TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD	601692	5q31.1
Corneal dystrophy, Schnyder type, 121800 (3)	UBIAD1, TERE1, SCCD	611632	1p36.22
Corneal dystrophy, Thiel-Behnke type, 602082 (3)	TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD	601692	5q31.1
Corneal dystrophy, congenital stromal, 610048 (3)	DCN, CSCD	125255	12q21.33
Corneal dystrophy, endothelial, X-linked (2)	XECD	300779	Xq25
Corneal dystrophy, epithelial basement membrane, 121820 (3)	TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD	601692	5q31.1
Corneal dystrophy, gelatinous drop-like, 204870 (3)	TACSTD2, TROP2, M1S1	137290	1p32.1
Corneal dystrophy, lattice type I, 122200 (3)	TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD	601692	5q31.1
Corneal dystrophy, lattice type IIIA, 608471 (3)	TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD	601692	5q31.1
Corneal dystrophy, posterior amorphous (4)	PACD	612868	12q21.33
Corneal dystrophy, posterior polymorphous 2, 609140 (3)	COL8A2, FECD1, PPCD2	120252	1p34.3
Corneal dystrophy, posterior polymorphous, 1, 122000 (3)	OVOL2, ZNF339, PPCD1	616441	20p11.23
Corneal dystrophy, posterior polymorphous, 3, 609141 (3)	ZEB1, TCF8, NIL2A, PPCD3, FECD6	189909	10p11.22
Corneal dystrophy, posterior polymorphous, 4, 618031 (3)	GRHL2, TFCP2L3, DFNA28, ECTDS, PPCD4	608576	8q22.3
Corneal dystrophy, punctiform adn polychromatic pre-Descemet, 619871 (3)	PRDX3, AOP1, SCAR32, PPPCD	604769	10q26.11
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)	SLC4A11, BTR1, NABC1, CHED, CDPD, FECD4	610206	20p13
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)	SLC4A11, BTR1, NABC1, CHED, CDPD, FECD4	610206	20p13
Corneal fleck dystrophy, 121850 (3)	PIKFYVE, PIP5K3	609414	2q34
Cornelia de Lange syndrome 1, 122470 (3)	NIPBL, CDLS1	608667	5p13.2
Cornelia de Lange syndrome 2, 300590 (3)	SMC1A, SMC1L1, SMC1, DXS423E, KIAA0178, CDLS2, DEE85	300040	Xp11.22
Cornelia de Lange syndrome 3, 610759 (3)	SMC3, CSPG6, HCAP, BAM, CDLS3	606062	10q25.2
Cornelia de Lange syndrome 4, 614701 (3)	RAD21, SCC1, NXP1, KIAA0078, CDLS4, MGS	606462	8q24.11
Cornelia de Lange syndrome 5, 300882 (3)	HDAC8, MRXS6, CDLS5	300269	Xq13.1
Corpus callosum, partial agenesis of, 304100 (3)	L1CAM, CAML1, HSAS1, MASA, SPG1	308840	Xq28
Cortical dysplasia, complex, with other brain malformations 1, 614039 (3)	TUBB3, TUBB4, CFEOM3A, CDCBM1	602661	16q24.3
Cortical dysplasia, complex, with other brain malformations 10, 618677 (3)	APC2, APCL, MRT74	612034	19p13.3
Cortical dysplasia, complex, with other brain malformations 2, 615282 (3)	KIF5C, NKHC2, CDCBM2	604593	2q23.1-q23.2
Cortical dysplasia, complex, with other brain malformations 3, 615411 (3)	KIF2A, CDCBM3	602591	5q12.1
Cortical dysplasia, complex, with other brain malformations 4, 615412 (3)	TUBG1, CDCBM4	191135	17q21.2
Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)	TUBB2A, CDCBM5	615101	6p25.2
Cortical dysplasia, complex, with other brain malformations 6, 615771 (3)	TUBB, TUBB5, M40, CDCBM6, CSCSC1	191130	6p21.33
Cortical dysplasia, complex, with other brain malformations 7, 610031 (3)	TUBB2B, CDCBM7	612850	6p25.2
Cortical dysplasia, complex, with other brain malformations 9, 618174 (3)	CTNNA2, CAPR, CTNR, CDCBM9	114025	2p12
Cortical malformations, occipital, 614115 (3)	LAMC3, OCCM	604349	9q34.12
Corticosteroid-binding globulin deficiency, 611489 (3)	CBG, SERPINA6	122500	14q32.13
Cortisone reductase deficiency 1, 604931 (3)	H6PD, GDH, G6PDH, CORTRD1	138090	1p36.22
Cortisone reductase deficiency 2, 614662 (3)	HSD11B1, HSD11, HSD11L, CORTRD2	600713	1q32.2
Costello syndrome, 218040 (3)	HRAS	190020	11p15.5
Coumarin resistance, 122700 (3)	CYP2A6, CYP2A3, CYP2A, P450C2A	122720	19q13.2
Cousin syndrome, 260660 (3)	TBX15	604127	1p12
Cowchock syndrome, 310490 (3)	AIFM1, PDCD8, AIF, COXPD6, COWCK, CMTX4, DFNX5, SEMDHL	300169	Xq26.1
Cowden syndrome 1, 158350 (3)	PTEN, MMAC1, GLM2, CWS1	601728	10q23.31
Cowden syndrome 4, 615107 (3)	KLLN, CWS4	612105	10q23.31
Cowden syndrome 5, 615108 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
Cowden syndrome 6, 615109 (3)	AKT1, CWS6	164730	14q32.33
Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3)	SOST, VBCH, CDD, SOST1	605740	17q21.31
Cranioectodermal dysplasia 1, 218330 (3)	IFT122, WDR10, CED1	606045	3q21.3-q22.1
Cranioectodermal dysplasia 2, 613610 (3)	WDR35, NAOFEN, KIAA1336, CED2, SRTD7	613602	2p24.1
Cranioectodermal dysplasia 4, 614378 (3)	WDR19, SRTD5, ATD5, NPHP13, CED4, SPGF72	608151	4p14
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)	TMCO1, CFSMR	614123	1q24.1
Craniofacial microsomia, 164210 (3)	SF3B2, SF3B145, SAP145, CFM	605591	11q13.1
Craniofacial-deafness-hand syndrome, 122880 (3)	PAX3, WS1, HUP2, CDHS, WS3	606597	2q36.1
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Craniofrontonasal dysplasia, 304110 (3)	EFNB1, EPLG2, CFNS, CFND	300035	Xq13.1
Craniolenticulosutural dysplasia, 607812 (3)	SEC23A, CLSD	610511	14q21.1
Craniometaphyseal dysplasia, 123000 (3)	ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD	605145	5p15.2
Craniometaphyseal dysplasia, autosomal recessive, 218400 (3)	GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP3	121014	6q22.31
Cranioosteoarthropathy, 259100 (3)	HPGD, PGDH1, PHOAR1	601688	4q34.1
Craniosynostosis 1, 123100 (3)	TWIST1, ACS3, SCS, CRS1, SWCOS	601622	7p21.1
Craniosynostosis 2, 604757 (3)	MSX2, CRS2, HOX8	123101	5q35.2
Craniosynostosis 3, 615314 (3)	TCF12, HTF4, CRS3, HH26	600480	15q21.3
Craniosynostosis 4, 600775 (3)	ERF, PE2, CRS4, CHYTS	611888	19q13.2
Craniosynostosis and dental anomalies, 614188 (3)	IL11RA, CRSDA	600939	9p13.3
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3)	CYP26B1, CYP26A2, P450RAI2, RHFCA	605207	2p13.2
Craniosynostosis, Adelaide type (2)	CRSA, CRS3	600593	4p16
Craniosynostosis, nonspecific (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Craniotubular dysplasia, Ikegawa type, 619727 (3)	TMEM53, NET4, CTDI	619722	1p34.1
Creatine phosphokinase, elevated serum, 123320 (3)	CAV3, LQT9, MPDT, RMD2	601253	3p25.3
Creatinine clearance QTL (2)	CRCL	607135	3p
Creutzfeldt-Jakob disease, 123400 (3)	PRNP, PRIP, KURU, CJD	176640	20p13
Crigler-Najjar syndrome, type I, 218800 (3)	UGT1A1, UGT1, GNT1, BILIQTL1	191740	2q37.1
Crigler-Najjar syndrome, type II, 606785 (3)	UGT1A1, UGT1, GNT1, BILIQTL1	191740	2q37.1
Crouzon syndrome with acanthosis nigricans, 612247 (3)	FGFR3, ACH	134934	4p16.3
Crouzon syndrome, 123500 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Cryohydrocytosis, 185020 (3)	SLC4A1, AE1, EPB3, SPH4, SAO, CHC	109270	17q21.31
Cryptophthalmos, unilateral or bilateral, isolated, 123570 (3)	FREM2, FRASRS2, CRYPTOP	608945	13q13.3
Cryptorchidism, 219050 (3)	INSL3	146738	19p13.11
Cubitus valgus with mental retardation and unusual facies (2)	CVMRF	300471	Chr.X
Culler-Jones syndrome, 615849 (3)	GLI2, HPE9, CJS	165230	2q14.2
Currarino syndrome, 176450 (3)	MNX1, HLXB9, HOXHB9, SCRA1	142994	7q36.3
Curry-Jones syndrome, somatic mosaic, 601707 (3)	SMO, SMOH, CRJS, PHLS	601500	7q32.1
Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3)	PRKACA, CAFD1	601639	19p13.12
Cutis laxa, autosomal dominant 3, 616603 (3)	ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3	138250	10q24.1
Cutis laxa, autosomal dominant, 123700 (3)	ELN, SVAS, ADCL1	130160	7q11.23
Cutis laxa, autosomal recessive, type IA, 219100 (3)	FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD, CMT1H	604580	14q32.12
Cutis laxa, autosomal recessive, type IB, 614437 (3)	EFEMP2, FBLN4, UPH1, ARCL1B	604633	11q13.1
Cutis laxa, autosomal recessive, type IC, 613177 (3)	LTBP4, LTBP4S, LTBP4L, ARCL1C	604710	19q13.2
Cutis laxa, autosomal recessive, type IIA, 219200 (3)	ATP6V0A2, WSS, ARCL2A	611716	12q24.31
Cutis laxa, autosomal recessive, type IIB, 612940 (3)	PYCR1, PRO3, ARCL2B, ARCL3B	179035	17q25.3
Cutis laxa, autosomal recessive, type IIC, 617402 (3)	ATP6V1E1, ATP6E, ARCL2C	108746	22q11.21
Cutis laxa, autosomal recessive, type IID, 617403 (3)	ATP6V1A, HO68, ARCL2D, DEE93	607027	3q13.31
Cutis laxa, autosomal recessive, type IIE, 619451 (3)	LTBP1, ARCL2E	150390	2p22.3
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)	ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3	138250	10q24.1
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)	PYCR1, PRO3, ARCL2B, ARCL3B	179035	17q25.3
Cyanosis, transient neonatal, 613977 (3)	HBG2, TNCY	142250	11p15.4
Cylindromatosis, familial, 132700 (3)	CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS, FTDALS8	605018	16q12.1
Cystathioninuria, 219500 (3)	CTH	607657	1p31.1
Cystic fibrosis, 219700 (3)	CFTR, ABCC7, CF, MRP7	602421	7q31.2
Cystinosis, atypical nephropathic, 219800 (3)	CTNS	606272	17p13.2
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)	CTNS	606272	17p13.2
Cystinosis, nephropathic, 219800 (3)	CTNS	606272	17p13.2
Cystinosis, ocular nonnephropathic, 219750 (3)	CTNS	606272	17p13.2
Cystinuria, 220100 (3)	SLC3A1, ATR1, D2H, NBAT	104614	2p21
Cystinuria, 220100 (3)	SLC7A9, CSNU3	604144	19q13.11
Czech dysplasia, 609162 (3)	COL2A1	120140	12q13.11
D-2-hydroxyglutaric aciduria 2, 613657 (3)	IDH2, IDPM, D2HGA2	147650	15q26.1
D-2-hydroxyglutaric aciduria, 600721 (3)	D2HGDH, D2HGD	609186	2q37.3
D-bifunctional protein deficiency, 261515 (3)	HSD17B4, PRLTS1	601860	5q23.1
D-glyceric aciduria, 220120 (3)	GLYCTK, GLYCTK1	610516	3p21.2
D-lactic aciduria with susceptibility to gout, 245450 (3)	LDHD, DLACD	607490	16q23.1
DEEAH syndrome, 619004 (3)	MADD, DENN, NEDDISH, DEEAH	603584	11p11.2
DEGCAGS syndrome, 619488 (3)	ZNF699, FLJ38144, DEGCAGS	609571	19p13.2
DNA topoisomerase I, camptothecin-resistant (3)	TOP1	126420	20q12
DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)	TOP2A, TOP2	126430	17q21.2
DOORS syndrome, 220500 (3)	TBC1D24, KIAA1171, FIME, DEE16, DOORS, DFNB86, DFNA65, EPRPDC	613577	16p13.3
Dandy-Walker syndrome (4)	DWS, C3DELq22q24, DEL3q22q24	220200	3q22-q24
Danon disease, 300257 (3)	LAMP2, LAMPB, LGP110, DND	309060	Xq24
Darier disease, 124200 (3)	ATP2A2, ATP2B, DAR	108740	12q24.11
De la Chapelle dysplasia, 256050 (3)	SLC26A2, DTD, DTDST, D5S1708, EDM4	606718	5q32
Deafness and male infertility (4)	DEL15q15.3, C15DELq15.3	611102	15q15.3
Deafness and myopia, 221200 (3)	SLITRK6, DFNMYP	609681	13q31.1
Deafness autosomal recessive 106, 617637 (3)	EPS8L2, EPS8R2, DFNB106	614988	11p15.5
Deafness, X-linked 1, 304500 (3)	PRPS1, CMTX5, DFNX1, DFN2	311850	Xq22.3
Deafness, X-linked 2, 304400 (3)	POU3F4, DFN3, DFNX2	300039	Xq21.1
Deafness, X-linked 3 (2)	DFNX3, DFN4	300030	Xp21.2
Deafness, X-linked 4, 300066 (3)	SMPX, DFNX4, MPD7	300226	Xp22.12
Deafness, X-linked 5, 300614 (3)	AIFM1, PDCD8, AIF, COXPD6, COWCK, CMTX4, DFNX5, SEMDHL	300169	Xq26.1
Deafness, Y-linked 1 (2)	DFNY1	400043	Chr.Y
Deafness, autosomal dominant 1, with or without thrombocytopenia, 124900 (3)	DIAPH1, DFNA1, LFHL1, SCBMS	602121	5q31.3
Deafness, autosomal dominant 10, 601316 (3)	EYA4, DFNA10, CMD1J	603550	6q23.2
Deafness, autosomal dominant 11, 601317 (3)	MYO7A, USH1B, DFNB2, DFNA11	276903	11q13.5
Deafness, autosomal dominant 13, 601868 (3)	COL11A2, DFNA13, DFNB53, FBCG2, OSMEDA, OSMEDB	120290	6p21.32
Deafness, autosomal dominant 15, 602459 (3)	POU4F3, BRN3C	602460	5q32
Deafness, autosomal dominant 16 (2)	DFNA16	603964	2q23-q24.3
Deafness, autosomal dominant 17, 603622 (3)	MYH9, MHA, FTNS, DFNA17, BDPLT6, MATINS	160775	22q12.3
Deafness, autosomal dominant 18 (2)	DFNA18	606012	3q22
Deafness, autosomal dominant 20/26, 604717 (3)	ACTG1, DFNA20, DFNA26, BRWS2	102560	17q25.3
Deafness, autosomal dominant 21, 607017 (3)	RIPOR2, FAM65B, C6orf32, KIAA0386, PL48, DFNB104, DFNA21	611410	6p22.3
Deafness, autosomal dominant 22, 606346 (3)	MYO6, DFNA22, DFNB37	600970	6q14.1
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3)	MYO6, DFNA22, DFNB37	600970	6q14.1
Deafness, autosomal dominant 23, 605192 (3)	SIX1, BOS3, DFNA23	601205	14q23.1
Deafness, autosomal dominant 24 (2)	DFNA24	606282	4q35-qter
Deafness, autosomal dominant 25, 605583 (3)	SLC17A8, VGLUT3, DFNA25	607557	12q23.1
Deafness, autosomal dominant 27, 612431 (3)	REST, NRSF, WT6, GINGF5, HGF5, DFNA27	600571	4q12
Deafness, autosomal dominant 28, 608641 (3)	GRHL2, TFCP2L3, DFNA28, ECTDS, PPCD4	608576	8q22.3
Deafness, autosomal dominant 2A, 600101 (3)	KCNQ4, DFNA2A	603537	1p34.2
Deafness, autosomal dominant 2B, 612644 (3)	GJB3, CX31, DFNA2B, EKVP1	603324	1p34.3
Deafness, autosomal dominant 30 (2)	DFNA30	606451	15q25-q26
Deafness, autosomal dominant 31 (2)	DFNA31	608645	6p21.3
Deafness, autosomal dominant 33 (2)	DFNA33	614211	13q34
Deafness, autosomal dominant 34, with or without inflammation, 617772 (3)	NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH	606416	1q44
Deafness, autosomal dominant 36, 606705 (3)	TMC1, DFNB7, DFNB11, DFNA36	606706	9q21.13
Deafness, autosomal dominant 37, 618533 (3)	COL11A1, STL2, DFNA37	120280	1p21.1
Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3)	DSPP, DPP, DGI1, DFNA39, DTDP2	125485	4q22.1
Deafness, autosomal dominant 3A, 601544 (3)	GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID, BAPS	121011	13q12.11
Deafness, autosomal dominant 3B, 612643 (3)	GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2	604418	13q12.11
Deafness, autosomal dominant 40, 616357 (3)	CRYM, DFNA40	123740	16p12.2
Deafness, autosomal dominant 41, 608224 (3)	P2RX2, P2X2, DFNA41	600844	12q24.33
Deafness, autosomal dominant 43 (2)	DFNA43	608394	2p12
Deafness, autosomal dominant 47 (2)	DFNA47, DFNB83	608652	9p22-p21
Deafness, autosomal dominant 48 (2)	DFNA48	607841	12q13-q14
Deafness, autosomal dominant 49 (2)	DFNA49	608372	1q21-q23
Deafness, autosomal dominant 4A, 600652 (3)	MYH14, KIAA2034, DFNA4A, PNMHH	608568	19q13.33
Deafness, autosomal dominant 4B, 614614 (3)	CEACAM16, CEAL2, DFNA4B, DFNB113	614591	19q13.31-q13.32
Deafness, autosomal dominant 5, 600994 (3)	GSDME, DFNA5	608798	7p15.3
Deafness, autosomal dominant 50, 613074 (3)	MIR96, MIRN96, DFNA50	611606	7q32.2
Deafness, autosomal dominant 51 (4)	DFNA51, C9DUPq21.11, DUP9q21.11	613558	9q21.11
Deafness, autosomal dominant 52 (2)	DFNA52, DFNA42	607683	5q31.1-q32
Deafness, autosomal dominant 53 (2)	DFNA53	609965	14q11.2-q12
Deafness, autosomal dominant 54 (2)	DFNA54	615649	5q31
Deafness, autosomal dominant 56, 615629 (3)	TNC, HXB, DFNA56	187380	9q33.1
Deafness, autosomal dominant 58 (2)	DFNA58	615654	2p21-p12
Deafness, autosomal dominant 59 (2)	DFNA59	612642	11p14.2-q12.3
Deafness, autosomal dominant 6/14/38, 600965 (3)	WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41	606201	4p16.1
Deafness, autosomal dominant 64, 614152 (3)	DIABLO, SMAC, DFNA64	605219	12q24.31
Deafness, autosomal dominant 65, 616044 (3)	TBC1D24, KIAA1171, FIME, DEE16, DOORS, DFNB86, DFNA65, EPRPDC	613577	16p13.3
Deafness, autosomal dominant 67, 616340 (3)	OSBPL2, ORP2, KIAA0772, DNFA67	606731	20q13.33
Deafness, autosomal dominant 69, unilateral or asymmetric, 616697 (3)	KITLG, MGF, SF, SCF, SHEP7, FPHH, DCUA, DFNA69	184745	12q21.32
Deafness, autosomal dominant 7, 601412 (3)	LMX1A, LMX1, DFNA7	600298	1q23.3
Deafness, autosomal dominant 73, 617663 (3)	PTPRQ, PTPGMC1, DFNB84A, DFNA73	603317	12q21.31
Deafness, autosomal dominant 76, 618787 (3)	PLS1, DFNA76	602734	3q23
Deafness, autosomal dominant 78, 619081 (3)	SLC12A2, NKCC1, KILQS	600840	5q23.3
Deafness, autosomal dominant 8/12, 601543 (3)	TECTA, DFNA8, DFNA12, DFNB21	602574	11q23.3
Deafness, autosomal dominant 80, 619274 (3)	GREB1L, C18orf6, KIAA1772, RHDA3, DFNA80	617782	18q11.1-q11.2
Deafness, autosomal dominant 82, 619804 (3)	ATP2B2, PMCA2, DFNA82	108733	3p25.3
Deafness, autosomal dominant 84, 619810 (3)	ATP11A, ATPIS, ATPIH, DFNA84, HLD24	605868	13q34
Deafness, autosomal dominant 9, 601369 (3)	COCH, DFNA9, DFNB110	603196	14q12
Deafness, autosomal dominant, with peripheral neuropathy (3)	GJB3, CX31, DFNA2B, EKVP1	603324	1p34.3
Deafness, autosomal recessive (3)	GJB3, CX31, DFNA2B, EKVP1	603324	1p34.3
Deafness, autosomal recessive 100, 618422 (3)	PPIP5K2, HISPPD1, VIP2, KIAA0433, DFNB100	611648	5q21.1
Deafness, autosomal recessive 107, 617639 (3)	WBP2, DFNB107	606962	17q25.1
Deafness, autosomal recessive 111, 618145 (3)	MPZL2, EVA1, EVA, DFNB111	604873	11q23.3
Deafness, autosomal recessive 113, 618410 (3)	CEACAM16, CEAL2, DFNA4B, DFNB113	614591	19q13.31-q13.32
Deafness, autosomal recessive 114, 618456 (3)	GRAP, DFNB114	604330	17p11.2
Deafness, autosomal recessive 118, with cochlear aplasia (4)	DFNB118	619553	8q22
Deafness, autosomal recessive 119, 619615 (3)	SPATA5L1, DFNB119, NEDHLS	619578	15q21.1
Deafness, autosomal recessive 12, 601386 (3)	CDH23, USH1D, DFNB12, PITA5	605516	10q22.1
Deafness, autosomal recessive 13 (2)	DFNB13	603098	7q34-q36
Deafness, autosomal recessive 14 (2)	DFNB14	603678	7q31
Deafness, autosomal recessive 15, 601869 (3)	GIPC3, DFNB15, DFNB72, DFNB95	608792	19p13.3
Deafness, autosomal recessive 16, 603720 (3)	STRC, DFNB16	606440	15q15.3
Deafness, autosomal recessive 17 (2)	DFNB17	603010	7q31
Deafness, autosomal recessive 18A, 602092 (3)	USH1C, DFNB18A	605242	11p15.1
Deafness, autosomal recessive 18B, 614945 (3)	OTOG, OTGN, DFNB18B	604487	11p15.1
Deafness, autosomal recessive 1A, 220290 (3)	GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID, BAPS	121011	13q12.11
Deafness, autosomal recessive 1B, 612645 (3)	GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2	604418	13q12.11
Deafness, autosomal recessive 2, 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	11q23.3
Deafness, autosomal recessive 22, 607039 (3)	OTOA, DFNB22	607038	16p12.2
Deafness, autosomal recessive 23, 609533 (3)	PCDH15, DFNB23, USH1F	605514	10q21.1
Deafness, autosomal recessive 24, 611022 (3)	RDX, DFNB24	179410	11q22.3
Deafness, autosomal recessive 25, 613285 (3)	GRXCR1	613283	4p13
Deafness, autosomal recessive 27 (2)	DFNB27	605818	2q23-q31
Deafness, autosomal recessive 28, 609823 (3)	TRIOBP, KIAA1662	609761	22q13.1
Deafness, autosomal recessive 29, 614035 (3)	CLDN14, DFNB29	605608	21q22.13
Deafness, autosomal recessive 3, 600316 (3)	MYO15A, DFNB3	602666	17p11.2
Deafness, autosomal recessive 30, 607101 (3)	MYO3A, DFNB30	606808	10p12.1
Deafness, autosomal recessive 31, 607084 (3)	WHRN, CIP98, KIAA1526, DFNB31, USH2D	607928	9q32
Deafness, autosomal recessive 32, with or without immotile sperm, 608653 (3)	CDC14A, DFNB32	603504	1p21.2
Deafness, autosomal recessive 33 (2)	DFNB33	607239	10p11.23-q21.1
Deafness, autosomal recessive 35, 608565 (3)	ESRRB, ESRL2, DFNB35	602167	14q24.3
Deafness, autosomal recessive 36, 609006 (3)	ESPN, USH1M	606351	1p36.31
Deafness, autosomal recessive 37, 607821 (3)	MYO6, DFNA22, DFNB37	600970	6q14.1
Deafness, autosomal recessive 38 (2)	DFNB38	608219	6q26-q27
Deafness, autosomal recessive 39, 608265 (3)	HGF, DFNB39	142409	7q21.11
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3)	SLC26A4, PDS, DFNB4, EVA, TDH2B	605646	7q22.3
Deafness, autosomal recessive 40 (2)	DFNB40	608264	22q11.21-q12.1
Deafness, autosomal recessive 42, 609646 (3)	ILDR1, DFNB42	609739	3q13.33
Deafness, autosomal recessive 45 (2)	DFNB45	612433	1q43-q44
Deafness, autosomal recessive 46 (2)	DFNB46	609647	18p11.32-p11.31
Deafness, autosomal recessive 48, 609439 (3)	CIB2, KIP2	605564	15q25.1
Deafness, autosomal recessive 49, 610153 (3)	MARVELD2, MARVD2, TRIC, DFNB49	610572	5q13.2
Deafness, autosomal recessive 5 (2)	DFNB5	600792	14q12
Deafness, autosomal recessive 51 (2)	DFNB51	609941	11p13-p12
Deafness, autosomal recessive 53, 609706 (3)	COL11A2, DFNA13, DFNB53, FBCG2, OSMEDA, OSMEDB	120290	6p21.32
Deafness, autosomal recessive 55 (2)	DFNB55	609952	4q12-q13.2
Deafness, autosomal recessive 57, 618003 (3)	PDZD7, DFNB57	612971	10q24.31
Deafness, autosomal recessive 59, 610220 (3)	PJVK, DFNB59	610219	2q31.2
Deafness, autosomal recessive 6, 600971 (3)	TMIE, DFNB6	607237	3p21.31
Deafness, autosomal recessive 62 (2)	DFNB62	610143	12p13.2-p11.23
Deafness, autosomal recessive 63, 611451 (3)	LRTOMT, LRTOMT1, LRTOMT2, DFNB63	612414	11q13.4
Deafness, autosomal recessive 65 (2)	DFNB65	610248	20q13.2-q13.3
Deafness, autosomal recessive 67, 610265 (3)	LHFPL5, TMHS, DFNB67	609427	6p21.31
Deafness, autosomal recessive 68, 610419 (3)	S1PR2, EDG5, DFNB68	605111	19p13.2
Deafness, autosomal recessive 7, 600974 (3)	TMC1, DFNB7, DFNB11, DFNA36	606706	9q21.13
Deafness, autosomal recessive 70, 614934 (3)	PNPT1, OLD35, COXPD13, DFNB70	610316	2p16.1
Deafness, autosomal recessive 71 (2)	DFNB71	612789	8p22-p21.3
Deafness, autosomal recessive 74, 613718 (3)	MSRB3, DFNB74	613719	12q14.3
Deafness, autosomal recessive 76, 615540 (3)	SYNE4, NESP4, C19orf46, DFNB76	615535	19q13.12
Deafness, autosomal recessive 77, 613079 (3)	LOXHD1, DFNB77	613072	18q21.1
Deafness, autosomal recessive 79, 613307 (3)	TPRN, C9orf75, DFNB79	613354	9q34.3
Deafness, autosomal recessive 8/10, 601072 (3)	TMPRSS3, ECHOS1, DFNB8, DFNB10	605511	21q22.3
Deafness, autosomal recessive 83 (2)	DFNB83	613685	9p23-p21.2
Deafness, autosomal recessive 84A, 613391 (3)	PTPRQ, PTPGMC1, DFNB84A, DFNA73	603317	12q21.31
Deafness, autosomal recessive 84B, 614944 (3)	OTOGL, C12orf64, DFNB84B	614925	12q21.31
Deafness, autosomal recessive 85 (2)	DFNB85	613392	17p12-q11.2
Deafness, autosomal recessive 86, 614617 (3)	TBC1D24, KIAA1171, FIME, DEE16, DOORS, DFNB86, DFNA65, EPRPDC	613577	16p13.3
Deafness, autosomal recessive 89, 613916 (3)	KARS1, KARS, CMTRIB, DFNB89, LEPID, DEAPLE	601421	16q23.1
Deafness, autosomal recessive 9, 601071 (3)	OTOF, DFNB9, NSRD9, AUNB1	603681	2p23.3
Deafness, autosomal recessive 93, 614899 (3)	CABP2, DFNB93	607314	11q13.2
Deafness, autosomal recessive 96 (2)	DFNB96	614414	1p36.31-p36.13
Deafness, autosomal recessive 99, 618481 (3)	TMEM132E, DFNB99	616178	17q12
Deafness, cataract, retinitis pigmentosa, and sperm abnormalities (2)	DFCTRPS	300719	Chr.X
Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3)	FGF3, INT2	164950	11q13.3
Deafness, congenital, and adult-onset progressive leukoencephalopathy, 619196 (3)	KARS1, KARS, CMTRIB, DFNB89, LEPID, DEAPLE	601421	16q23.1
Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 (3)	ATP6V1B2, ATP6B2, VPP3, DOOD, ZLS2	606939	8p21.3
Deafness, digenic GJB2/GJB6, 220290 (3)	GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2	604418	13q12.11
Deafness, digenic, GJB2/GJB3, 220290 (3)	GJB3, CX31, DFNA2B, EKVP1	603324	1p34.3
Deafness, dystonia, and cerebral hypomyelination, 300475 (3)	BCAP31, BAP31, DXS1357E, DDCH	300398	Xq28
Deafness, neurosensory, autosomal recessive 47 (2)	DFNB47	609946	2p25.1-p24.3
Deafness, neurosensory, without vestibular involvement, autosomal dominant, 609006 (3)	ESPN, USH1M	606351	1p36.31
Dehydrated hereditary stomatocytosis 2, 616689 (3)	KCNN4, KCA4, SK4, DHS2	602754	19q13.31
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)	PIEZO1, FAM38A, MIB, DHS, LMPHM6	611184	16q24.3
Dejerine-Sottas disease, 145900 (3)	EGR2, KROX20, CHN1	129010	10q21.3
Dejerine-Sottas disease, 145900 (3)	MPZ, CMT1B, CMTDID, DSS, CHN2	159440	1q23.3
Dejerine-Sottas disease, 145900 (3)	PMP22, CMT1A, CMT1E, DSS, CIDP	601097	17p12
Dejerine-Sottas disease, 145900 (3)	PRX, CMT4F	605725	19q13.2
Delayed puberty, self-limited, 619613 (3)	LGR4, GPR48, BNMD17, DPSL	606666	11p14.1
Delpire-McNeill syndrome, 619083 (3)	SLC12A2, NKCC1, KILQS	600840	5q23.3
Delta-beta thalassemia, 141749 (3)	HBB, ECYT6	141900	11p15.4
Dementia, Lewy body, 127750 (3)	SNCA, NACP, PARK1, PARK4	163890	4q22.1
Dementia, Lewy body, 127750 (3)	SNCB	602569	5q35.2
Dementia, familial British, 176500 (3)	ITM2B, BRI, ABRI, FBD, RDGCA	603904	13q14.2
Dementia, familial Danish, 117300 (3)	ITM2B, BRI, ABRI, FBD, RDGCA	603904	13q14.2
Dementia, frontotemporal, 600274 (3)	PSEN1, AD3, ACNINV3	104311	14q24.2
Dementia, frontotemporal, with or without parkinsonism, 600274 (3)	MAPT, MTBT1, DDPAC, MSTD	157140	17q21.31
Dent disease 1, 300009 (3)	CLCN5, CLCK2, NPHL2, DENT1, NPHL1	300008	Xp11.23
Dent disease 2, 300555 (3)	OCRL, LOCR, OCRL1, NPHL2, DENT2	300535	Xq26.1
Dental anomalies and short stature, 601216 (3)	LTBP3, LTBP2, DASS, GPHYSD3	602090	11q13.1
Dentatorubral-pallidoluysian atrophy, 125370 (3)	ATN1, DRPLA, HRS, NOD, CHEDDA	607462	12p13.31
Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3)	SMOC2, SMAP2, DTDP1	607223	6q27
Dentin dysplasia, type II, 125420 (3)	DSPP, DPP, DGI1, DFNA39, DTDP2	125485	4q22.1
Dentinogenesis imperfecta, Shields type II, 125490 (3)	DSPP, DPP, DGI1, DFNA39, DTDP2	125485	4q22.1
Dentinogenesis imperfecta, Shields type III, 125500 (3)	DSPP, DPP, DGI1, DFNA39, DTDP2	125485	4q22.1
Denys-Drash syndrome, 194080 (3)	WT1, NPHS4	607102	11p13
Dermatofibrosarcoma protuberans, 607907 (3)	PDGFB, SIS, IBGC5	190040	22q13.1
Dermatopathia pigmentosa reticularis, 125595 (3)	KRT14, EBS1A, EBS1B, EBS1C, EBS1D	148066	17q21.2
Dermoids of cornea (2)	CND	304730	Xq24-qter
Desanto-Shinawi syndrome, 616708 (3)	WAC, KIAA1844, DESSH	615049	10p12.1
Desbuquois dysplasia 1, 251450 (3)	CANT1, SCAN1, DBQD1, EDM7	613165	17q25.3
Desbuquois dysplasia 2, 615777 (3)	XYLT1, XT1, DBQD2	608124	16p12.3
Desmoid disease, hereditary, 135290 (3)	APC, GS, FPC, BTPS2, DESMD	611731	5q22.2
Desmosterolosis, 602398 (3)	DHCR24, KIAA0018	606418	1p32.3
Developmental and epileptic encephalopathy 1, 308350 (3)	ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32	300382	Xp21.3
Developmental and epileptic encephalopathy 100, 619777 (3)	FBXO28, FBX28, KIAA0483, DEE100	609100	1q42.11
Developmental and epileptic encephalopathy 101, 619814 (3)	GRIN1, NMDAR1, NDHMSR, NDHMSD, DEE101	138249	9q34.3
Developmental and epileptic encephalopathy 11, 613721 (3)	SCN2A, SCN2A1, BFIC3, DEE11, BFIS3, BFNIS, EA9	182390	2q24.3
Developmental and epileptic encephalopathy 12, 613722 (3)	PLCB1, KIAA0581, PLCB1A, PLCB1B, DEE12	607120	20p12.3
Developmental and epileptic encephalopathy 13, 614558 (3)	SCN8A, CIAT, DEE13, BFIS5, MYOCL2	600702	12q13.13
Developmental and epileptic encephalopathy 14, 614959 (3)	KCNT1, KIAA1422, DEE14, ENFL5	608167	9q34.3
Developmental and epileptic encephalopathy 15, 615006 (3)	ST3GAL3, SIAT6, ST3GALII, MRT12, DEE15	606494	1p34.1
Developmental and epileptic encephalopathy 16, 615338 (3)	TBC1D24, KIAA1171, FIME, DEE16, DOORS, DFNB86, DFNA65, EPRPDC	613577	16p13.3
Developmental and epileptic encephalopathy 17, 615473 (3)	GNAO1, DEE17, NEDIM	139311	16q13
Developmental and epileptic encephalopathy 18, 615476 (3)	SZT2, KIAA0467, DEE18	615463	1p34.2
Developmental and epileptic encephalopathy 19, 615744 (3)	GABRA1, EJM5, ECA4, DEE19	137160	5q34
Developmental and epileptic encephalopathy 2, 300672 (3)	CDKL5, STK9, ISSX, DEE2	300203	Xp22.13
Developmental and epileptic encephalopathy 21, 615833 (3)	NECAP1, DEE21	611623	12p13.31
Developmental and epileptic encephalopathy 23, 615859 (3)	DOCK7, KIAA1771, DEE23	615730	1p31.3
Developmental and epileptic encephalopathy 24, 615871 (3)	HCN1, BCNG1, DEE24, GEFSP10	602780	5p12
Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta, 615905 (3)	SLC13A5, NACT, DEE25	608305	17p13.1
Developmental and epileptic encephalopathy 26, 616056 (3)	KCNB1, DEE26	600397	20q13.13
Developmental and epileptic encephalopathy 27, 616139 (3)	GRIN2B, NMDAR2B, MRD6, DEE27	138252	12p13.1
Developmental and epileptic encephalopathy 28, 616211 (3)	WWOX, FOR, SCAR12, DEE28	605131	16q23.1-q23.2
Developmental and epileptic encephalopathy 29, 616339 (3)	AARS1, AARS, CMT2N, DEE29, HDLS2, TTD8	601065	16q22.1
Developmental and epileptic encephalopathy 3, 609304 (3)	SLC25A22, GC1, DEE3	609302	11p15.5
Developmental and epileptic encephalopathy 30, 616341 (3)	SIK1, SNF1LK, MSK, DEE30	605705	21q22.3
Developmental and epileptic encephalopathy 31, 616346 (3)	DNM1, DEE31	602377	9q34.11
Developmental and epileptic encephalopathy 32, 616366 (3)	KCNA2, DEE32	176262	1p13.3
Developmental and epileptic encephalopathy 33, 616409 (3)	EEF1A2, DEE33, MRD38	602959	20q13.33
Developmental and epileptic encephalopathy 34, 616645 (3)	SLC12A5, KCC2, KIAA1176, DEE34, EIG14	606726	20q13.12
Developmental and epileptic encephalopathy 35, 616647 (3)	ITPA, DEE35	147520	20p13
Developmental and epileptic encephalopathy 36, 300884 (3)	ALG13, GLT28D1, CDG1S, DEE36	300776	Xq23
Developmental and epileptic encephalopathy 37, 616981 (3)	FRRS1L, C9orf4, CG6, DEE37	604574	9q31.3
Developmental and epileptic encephalopathy 38, 617020 (3)	ARV1, DEE38	611647	1q42.2
Developmental and epileptic encephalopathy 39, 612949 (3)	SLC25A12, ARALAR, DEE39	603667	2q31.1
Developmental and epileptic encephalopathy 4, 612164 (3)	STXBP1, UNC18, DEE4	602926	9q34.11
Developmental and epileptic encephalopathy 41, 617105 (3)	SLC1A2, EAAT2, DEE41	600300	11p13
Developmental and epileptic encephalopathy 42, 617106 (3)	CACNA1A, CACNL1A4, SCA6, DEE42	601011	19p13.13
Developmental and epileptic encephalopathy 43, 617113 (3)	GABRB3, ECA5, DEE43	137192	15q12
Developmental and epileptic encephalopathy 44, 617132 (3)	UBA5, UBE1DC1, DEE44, SCAR24	610552	3q22.1
Developmental and epileptic encephalopathy 45, 617153 (3)	GABRB1, DEE45	137190	4p12
Developmental and epileptic encephalopathy 46, 617162 (3)	GRIN2D, NMDAR2D, DEE46	602717	19q13.33
Developmental and epileptic encephalopathy 47, 617166 (3)	FGF12, FHF1, DEE47	601513	3q28-q29
Developmental and epileptic encephalopathy 48, 617276 (3)	AP3B2, NAPTB, DEE48	602166	15q25.2
Developmental and epileptic encephalopathy 49, 617281 (3)	DENND5A, RAB6IP1, KIAA1091, DEE49	617278	11p15.4
Developmental and epileptic encephalopathy 5, 613477 (3)	SPTAN1, NEAS, DEE5	182810	9q34.11
Developmental and epileptic encephalopathy 50, 616457 (3)	CAD, CDG1Z, DEE50	114010	2p23.3
Developmental and epileptic encephalopathy 51, 617339 (3)	MDH2, DEE51	154100	7q11.23
Developmental and epileptic encephalopathy 52, 617350 (3)	SCN1B, GEFSP1, BRGDA5, ATFB13, DEE52	600235	19q13.11
Developmental and epileptic encephalopathy 53, 617389 (3)	SYNJ1, PARK20, DEE53	604297	21q22.11
Developmental and epileptic encephalopathy 54, 617391 (3)	HNRNPU, HNRPU, SAFA, DEE54	602869	1q44
Developmental and epileptic encephalopathy 55, 617599 (3)	PIGP, DSCR5, DEE55	605938	21q22.13
Developmental and epileptic encephalopathy 56, 617665 (3)	YWHAG, DEE56	605356	7q11.23
Developmental and epileptic encephalopathy 57, 617771 (3)	KCNT2, SLICK, DEE57	610044	1q31.3
Developmental and epileptic encephalopathy 58, 617830 (3)	NTRK2, TRKB, OBHD, DEE58	600456	9q21.33
Developmental and epileptic encephalopathy 59, 617904 (3)	GABBR2, GPR51, DEE59, NDPLHS	607340	9q22.33
Developmental and epileptic encephalopathy 60, 617929 (3)	CNPY3, TNRC5, PRAT4A, ERDA5, DEE60	610774	6p21.1
Developmental and epileptic encephalopathy 61, 617933 (3)	ADAM22, DEE61	603709	7q21.12
Developmental and epileptic encephalopathy 62, 617938 (3)	SCN3A, FFEVF4, DEE62	182391	2q24.3
Developmental and epileptic encephalopathy 63, 617976 (3)	CPLX1, CPX1, DEE63	605032	4p16.3
Developmental and epileptic encephalopathy 64, 618004 (3)	RHOBTB2, DBC2, KIAA0717, DEE64	607352	8p21.3
Developmental and epileptic encephalopathy 65, 618008 (3)	CYFIP2, DEE65	606323	5q33.3
Developmental and epileptic encephalopathy 66, 618067 (3)	PACS2, KIAA0602, DEE66	610423	14q32.33
Developmental and epileptic encephalopathy 67, 618141 (3)	CUX2, CDP2, CUTL2, DEE67	610648	12q24.11-q24.12
Developmental and epileptic encephalopathy 68, 618201 (3)	TRAK1, OIP106, KIAA1042, DEE68	608112	3p22.1
Developmental and epileptic encephalopathy 69, 618285 (3)	CACNA1E, CACNL1A6, DEE69	601013	1q25.3
Developmental and epileptic encephalopathy 6B, non-Dravet, 619317 (3)	SCN1A, GEFSP2, SMEI, FEB3A, DEE6A, DRVT, FHM3, DEE6B	182389	2q24.3
Developmental and epileptic encephalopathy 7, 613720 (3)	KCNQ2, EBN1, DEE7, BFNS1	602235	20q13.33
Developmental and epileptic encephalopathy 70, 618298 (3)	PHACTR1, KIAA1733, DEE70	608723	6p24.1
Developmental and epileptic encephalopathy 71, 618328 (3)	GLS, GLS1, DEE71, CASGID, GDPAG	138280	2q32.2
Developmental and epileptic encephalopathy 72, 618374 (3)	NEUROD2, DEE72	601725	17q12
Developmental and epileptic encephalopathy 73, 618379 (3)	RNF13, DEE73	609247	3q25.1
Developmental and epileptic encephalopathy 74, 618396 (3)	GABRG2, DEE74, FEB8, ECA2, GEFSP3	137164	5q34
Developmental and epileptic encephalopathy 75, 618437 (3)	PARS2, DEE75	612036	1p32.3
Developmental and epileptic encephalopathy 76, 618468 (3)	ACTL6B, BAF53B, IDDSSAD, DEE76	612458	7q22.1
Developmental and epileptic encephalopathy 78, 618557 (3)	GABRA2, DEE78	137140	4p12
Developmental and epileptic encephalopathy 79, 618559 (3)	GABRA5, DEE79	137142	15q12
Developmental and epileptic encephalopathy 8, 300607 (3)	ARHGEF9, PEM2, KIAA0424, DEE8	300429	Xq11.1
Developmental and epileptic encephalopathy 80, 618580 (3)	PIGB, DEE80	604122	15q21.3
Developmental and epileptic encephalopathy 81, 618663 (3)	DMXL2, RC3, KIAA0856, PEPNS, DFNA71, DEE81	612186	15q21.2
Developmental and epileptic encephalopathy 82, 618721 (3)	GOT2, DEE82	138150	16q21
Developmental and epileptic encephalopathy 83, 618744 (3)	UGP2, UGPP2, DEE83	191760	2p15
Developmental and epileptic encephalopathy 84, 618792 (3)	UGDH, UDPGDH, DEE84	603370	4p14
Developmental and epileptic encephalopathy 85, with or without midline brain defects, 301044 (3)	SMC1A, SMC1L1, SMC1, DXS423E, KIAA0178, CDLS2, DEE85	300040	Xp11.22
Developmental and epileptic encephalopathy 87, 618916 (3)	CDK19, KIAA1028, DEE87	614720	6q21
Developmental and epileptic encephalopathy 89, 619124 (3)	GAD1, SCP, DEE89	605363	2q31.1
Developmental and epileptic encephalopathy 9, 300088 (3)	PCDH19, KIAA1313, EFMR, DEE9	300460	Xq22.1
Developmental and epileptic encephalopathy 90, 301058 (3)	FGF13, FGF2, DEE90	300070	Xq26.3-q27.1
Developmental and epileptic encephalopathy 91, 617711 (3)	PPP3CA, PPP2B, CALNA, CNA1, DEE91, ACCIID	114105	4q24
Developmental and epileptic encephalopathy 92, 617829 (3)	GABRB2, DEE92	600232	5q34
Developmental and epileptic encephalopathy 93, 618012 (3)	ATP6V1A, HO68, ARCL2D, DEE93	607027	3q13.31
Developmental and epileptic encephalopathy 94, 615369 (3)	CHD2, DEE94	602119	15q26.1
Developmental and epileptic encephalopathy 95, 618143 (3)	PIGS, GPIBD18, DEE95	610271	17q11.2
Developmental and epileptic encephalopathy 96, 619340 (3)	NSF, DEE96	601633	17q21.31
Developmental and epileptic encephalopathy 97, 619561 (3)	CELF2, CUGBP2, ETR3, BRUNOL3, DEE97	602538	10p14
Developmental and epileptic encephalopathy 98, 619605 (3)	ATP1A2, FHM2, MHP2, FARIMPD, DEE98	182340	1q23.2
Developmental and epileptic encephalopathy 99, 619606 (3)	ATP1A3, DYT12, RDP, AHC2, CAPOS, DEE99	182350	19q13.2
Developmental delay and seizures with or without movement abnormalities, 617836 (3)	DHDDS, HDS, RP59, DEDSM	608172	1p36.11
Developmental delay with dysmorphic facies and dental anomalies, 619228 (3)	SATB1, DEFDA, KTZSL	602075	3p24.3
Developmental delay with or without dysmorphic facies and autism, 618454 (3)	TRRAP, DEDDFA, DFNA75	603015	7q22.1
Developmental delay with or without intellectual impairment or behavioral abnormalities, 619575 (3)	TAOK1, PSK2, TAO1, MARKK, DDIB	610266	17q11.2
Developmental delay with short stature, dysmorphic facial features, and sparse hair, 616901 (3)	DPH1, DPH2L1, OVCA1, DEDSSH	603527	17p13.3
Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 (3)	TCF20, SPBP, AR1, DDVIBA	603107	22q13.2
Developmental delay with variable neurologic and brain abnormalities, 619694 (3)	LMBRD2, DENBA	619490	5p13.2
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, 619595 (3)	SRCAP, SWR1, KIAA0309, FLHS, DEHMBA	611421	16p11.2
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, 619090 (3)	MORC2, ZCW3, ZCWCC1, KIAA0852, CMT2Z, DIGFAN	616661	22q12.2
Developmental delay, impaired speech, and behavioral abnormalities, 619475 (3)	SPTBN1, DDISBA	182790	2p16.2
Developmental dysplasia of the hip 1 (2)	DDH1	142700	13q22
Developmental dysplasia of the hip 2 (2)	DDH2	615612	3p22.2
DiGeorge syndrome, 188400 (3)	TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR	602054	22q11.21
DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)	DGCR2, DGS2	601362	10p14-p13
Diabetes insipidus, nephrogenic, 1, 304800 (3)	AVPR2, DIR, DI1, ADHR, NDI1	300538	Xq28
Diabetes insipidus, nephrogenic, 2, 125800 (3)	AQP2, NDI2	107777	12q13.12
Diabetes insipidus, neurohypophyseal, 125700 (3)	AVP, AVRP, VP	192340	20p13
Diabetes mellitus, insulin-dependent, 2, 125852 (3)	INS, MODY10, IDDM2, PNDM4	176730	11p15.5
Diabetes mellitus, insulin-dependent, 20, 612520 (3)	HNF1A, TCF1, MODY3, IDDM20	142410	12q24.31
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)	INSR, HHF5	147670	19p13.2
Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)	GLIS3, ZNF515, NDH	610192	9p24.2
Diabetes mellitus, noninsulin-dependent, 125853 (3)	ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2, PNDM3	600509	11p15.1
Diabetes mellitus, noninsulin-dependent, 2 (2)	NIDDM2	601407	12q24.2
Diabetes mellitus, noninsulin-dependent, late onset, 125853 (3)	GCK, HHF3, PNDM1	138079	7p13
Diabetes mellitus, permanent neonatal 1, 606176 (3)	GCK, HHF3, PNDM1	138079	7p13
Diabetes mellitus, permanent neonatal 3, with or without neurologic features, 618857 (3)	ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2, PNDM3	600509	11p15.1
Diabetes mellitus, permanent neonatal 4, 618858 (3)	INS, MODY10, IDDM2, PNDM4	176730	11p15.5
Diabetes mellitus, transient neonatal 1, 601410 (3)	ZFP57, TNDM1	612192	6p22.1
Diabetes mellitus, transient neonatal 2, 610374 (3)	ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2, PNDM3	600509	11p15.1
Diabetes mellitus, transient neonatal 3, 610582 (3)	KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13, PNDM2	600937	11p15.1
Diabetes mellitus, type 2, 125853 (3)	PAX4, MODY9, KPD	167413	7q32.1
Diabetes mellitus, type II, 125853 (3)	AKT2, HIHGHH	164731	19q13.2
Diabetes, permanent neonatal 2, with or without neurologic features, 618856 (3)	KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13, PNDM2	600937	11p15.1
Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 (3)	RPS28, DBA15	603685	19p13.2
Diamond-Blackfan anemia 1, 105650 (3)	RPS19, DBA, DBA1	603474	19q13.2
Diamond-Blackfan anemia 10, 613309 (3)	RPS26, DBA10	603701	12q13.2
Diamond-Blackfan anemia 13, 615909 (3)	RPS29, DBA13	603633	14q21.3
Diamond-Blackfan anemia 2 (2)	DBA2	606129	8p23.3-p22
Diamond-Blackfan anemia 4, 612527 (3)	RPS17, RPS17L1, RPS17L2, DBA4	180472	15q25.2
Diamond-Blackfan anemia 5, 612528 (3)	RPL35A, DBA5	180468	3q29
Diamond-Blackfan anemia 6, 612561 (3)	RPL5, DBA6	603634	1p22.1
Diamond-Blackfan anemia 7, 612562 (3)	RPL11, DBA7	604175	1p36.11
Diamond-Blackfan anemia 8, 612563 (3)	RPS7, DBA8	603658	2p25.3
Diamond-Blackfan anemia 9, 613308 (3)	RPS10, DBA9	603632	6p21.31
Diamond-blackfan anemia 3, 610629 (3)	RPS24, DBA3	602412	10q22.3
Diaphanospondylodysostosis, 608022 (3)	BMPER, CV2	608699	7p14.3
Diaphragmatic hernia 3, 610187 (3)	ZFPM2, FOG2, DIH3, SRXY9	603693	8q23.1
Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)	MTAP, DMSMFH	156540	9p21.3
Diarrhea 1, secretory chloride, congenital, 214700 (3)	SLC26A3, DRA, CLD	126650	7q22.3-q31.1
Diarrhea 10, protein-losing enteropathy type, 618183 (3)	PLVAP, PV1, DIAR10	607647	19p13.11
Diarrhea 11, malabsorptive, congenital, 618662 (3)	PERCC1, ICR, DIAR11	618656	16p13.3
Diarrhea 12, with microvillus atrophy, 619445 (3)	STX3, STX3A, DIAR12, MVID2, RDMVID	600876	11q12.1
Diarrhea 2, with microvillus atrophy, 251850 (3)	MYO5B, KIAA1119, DIAR2, MVID1, PFIC10	606540	18q21.1
Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)	SPINT2, HAI2, DIAR3	605124	19q13.2
Diarrhea 4, malabsorptive, congenital, 610370 (3)	NEUROG3, NGN3, ATOH5	604882	10q22.1
Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)	EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8	185535	2p21
Diarrhea 6, 614616 (3)	GUCY2C, GUC2C, DIAR6, MECIL	601330	12p12.3
Diarrhea 8, secretory sodium, congenital, 616868 (3)	SLC9A3, NHE3, DIAR8	182307	5p15.33
Diarrhea 9, 618168 (3)	WNT2B, WNT13, XWNT2	601968	1p13.2
Dias-Logan syndrome, 617101 (3)	BCL11A, CTIP1, EVI9, KIAA1809, DILOS	606557	2p16.1
Diastrophic dysplasia, 222600 (3)	SLC26A2, DTD, DTDST, D5S1708, EDM4	606718	5q32
Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3)	SLC26A2, DTD, DTDST, D5S1708, EDM4	606718	5q32
Dicarboxylic aminoaciduria, 222730 (3)	SLC1A1, EAAC1, SCZD18, DCBXA	133550	9p24.2
Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280 (3)	PCDH12, VECAD2, DMJDS1	605622	5q31.3
Diencephalic-mesencephalic junction dysplasia syndrome 2, 618646 (3)	GSX2, GSH2, DMJDS2	616253	4q12
Diets-Jongmans syndrome, 618846 (3)	KDM3B, C5orf7, KIAA1082, JMJD1B, DIJOS	609373	5q31.2
Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, 137215 (3)	CDH1, UVO, LCAM, ECAD, BCDS1	192090	16q22.1
Digital arthropathy-brachydactyly, familial, 606835 (3)	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3	605427	12q24.11
Dihydrolipoamide dehydrogenase deficiency, 246900 (3)	DLD, LAD, PHE3, DLDD	238331	7q31.1
Dihydropyrimidine dehydrogenase deficiency, 274270 (3)	DPYD, DPD	612779	1p21.3
Dihydropyrimidinuria, 222748 (3)	DPYS, DHP	613326	8q22.3
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)	DSP, KPPS2, PPKS2, DCWHKTA	125647	6p24.3
Dimethylglycine dehydrogenase deficiency, 605850 (3)	DMGDH, DMGDHD	605849	5q14.1
Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)	POR	124015	7q11.23
Distal renal tubular acidosis 1, 179800 (3)	SLC4A1, AE1, EPB3, SPH4, SAO, CHC	109270	17q21.31
Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, 267300 (3)	ATP6V1B1, ATP6B1, VPP3, DRTA2	192132	2p13.3
Distal renal tubular acidosis 3, with or without sensorineural hearing loss, 602722 (3)	ATP6V0A4, ATP6N1B, VPP2, RTA1C, DRTA3	605239	7q34
Distal renal tubular acidosis 4 with hemolytic anemia, 611590 (3)	SLC4A1, AE1, EPB3, SPH4, SAO, CHC	109270	17q21.31
Donnai-Barrow syndrome, 222448 (3)	LRP2, DBS	600073	2q31.1
Dowling-Degos disease 1, 179850 (3)	KRT5, DDD1, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F	148040	12q13.13
Dowling-Degos disease 2, 615327 (3)	POFUT1, OFUCT1, KIAA0180, DDD2	607491	20q11.21
Dowling-Degos disease 3 (2)	DDD3	615674	17p13.3
Dowling-Degos disease 4, 615696 (3)	POGLUT1, CLP46, KTELC1, RUMI, C3orf9, DDD4, LGMDR21	615618	3q13.33
Down syndrome (4)	DCR, DSCR	190685	21q22.3
Doyne honeycomb degeneration of retina, 126600 (3)	EFEMP1, FBNL, DHRD	601548	2p16.1
Dravet syndrome, 607208 (3)	SCN1A, GEFSP2, SMEI, FEB3A, DEE6A, DRVT, FHM3, DEE6B	182389	2q24.3
Drug metabolism, altered, CES1-related, 618057 (3)	CES1, SES1	114835	16q12.2
Duane retraction syndrome 1 (2)	DURS1, DUS	126800	8q13
Duane retraction syndrome 2, 604356 (3)	CHN1, CHN, ARHGAP2, RHOGAP2, DURS2	118423	2q31.1
Duane retraction syndrome 3, 617041 (3)	MAFB, KRML, MCTO, DURS3	608968	20q12
Duane-radial ray syndrome, 607323 (3)	SALL4, HSAL4, DRRS, IVIC	607343	20q13.2
Dubin-Johnson syndrome, 237500 (3)	ABCC2, CMOAT	601107	10q24.2
Duchenne muscular dystrophy, 310200 (3)	DMD, BMD, CMD3B	300377	Xp21.2-p21.1
Dupuytren contracture 1 (2)	DUPC1	126900	16q11.1-q22
Dursun syndrome, 612541 (3)	G6PC3, UGRP, SCN4	611045	17q21.31
Dyggve-Melchior-Clausen disease, 223800 (3)	DYM, FLJ90130, DMC, SMC	607461	18q21.1
Dysautonomia, familial, 223900 (3)	ELP1, IKBKAP, IKAP	603722	9q31.3
Dyschromatosis symmetrica hereditaria, 127400 (3)	ADAR, DRADA, DSH, DSRAD, IFI4, G1P1, AGS6	146920	1q21.3
Dyschromatosis universalis hereditaria 1 (2)	DUH1, DUH	127500	6q24.2-q25.2
Dyschromatosis universalis hereditaria 1, 127500 (3)	SASH1, KIAA0790, CAPOK, DUH1	607955	6q24.3-q25.1
Dyschromatosis universalis hereditaria 2 (2)	DUH2	612715	12q21-q23
Dyschromatosis universalis hereditaria 3, 615402 (3)	ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2	605452	2q35
Dyserythropoietic anemia, congenital, type II, 224100 (3)	SEC23B, CDAN2, HEMPAS, CWS7	610512	20p11.23
Dyserythropoietic anemia, congenital, type IV, 613673 (3)	KLF1, EKLF, INLU, HBFQTL6, CDAN4	600599	19p13.13
Dyserythropoietic anemia, congenital, type Ia, 224120 (3)	CDAN1, CDA1, CDAN1A	607465	15q15.2
Dyserythropoietic anemia, congenital, type Ib, 615631 (3)	CDIN1, C15orf41	615626	15q14
Dysfibrinogenemia, congenital, 616004 (3)	FGA	134820	4q31.3
Dysfibrinogenemia, congenital, 616004 (3)	FGB	134830	4q31.3
Dysfibrinogenemia, congenital, 616004 (3)	FGG	134850	4q32.1
Dyskeratosis congenita, X-linked, 305000 (3)	DKC1, DKCX	300126	Xq28
Dyskeratosis congenita, autosomal dominant 1, 127550 (3)	TERC, TRC3, TR, DKCA1, PFBMFT2	602322	3q26.2
Dyskeratosis congenita, autosomal dominant 2, 613989 (3)	TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9	187270	5p15.33
Dyskeratosis congenita, autosomal dominant 3, 613990 (3)	TINF2, TIN2, DKCA3	604319	14q12
Dyskeratosis congenita, autosomal dominant 4, 615190 (3)	RTEL1, C20orf41, NHL, KIAA1088, DKCB5, DKCA4, PFBMFT3	608833	20q13.33
Dyskeratosis congenita, autosomal recessive 1, 224230 (3)	NOP10, NOLA3, DKCB1	606471	15q14
Dyskeratosis congenita, autosomal recessive 2, 613987 (3)	NHP2, NOLA2, DKCB2	606470	5q35.3
Dyskeratosis congenita, autosomal recessive 3, 613988 (3)	WRAP53, TCAB1, WDR79, DKCB3	612661	17p13.1
Dyskeratosis congenita, autosomal recessive 4, 613989 (3)	TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9	187270	5p15.33
Dyskeratosis congenita, autosomal recessive 5, 615190 (3)	RTEL1, C20orf41, NHL, KIAA1088, DKCB5, DKCA4, PFBMFT3	608833	20q13.33
Dyskeratosis congenita, autosomal recessive 6, 616353 (3)	PARN, DAN, DKCB6, PFBMFT4	604212	16p13.12
Dyskeratosis, hereditary benign intraepithelial (2)	DKBI	127600	4q35
Dyskinesia with orofacial involvement, autosomal dominant, 606703 (3)	ADCY5, FDFM, DSKOD	600293	3q21.1
Dyskinesia with orofacial involvement, autosomal recessive, 619647 (3)	ADCY5, FDFM, DSKOD	600293	3q21.1
Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)	PDE10A, IOLOD, ADSD2	610652	6q27
Dysostosis multiplex, Ain-Naz type, 619345 (3)	TMEM251, C14orf109, DMAN	619332	14q32.12
Dysplasminogenemia, 217090 (3)	PLG, HAE4	173350	6q26
Dysprothrombinemia, 613679 (3)	F2, THPH1, RPRGL2	176930	11p11.2
Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3)	HSPG2, PLC, SJS, SJA, SJS1	142461	1p36.12
Dystonia 13, torsion (2)	DYT13	607671	1p36.32-p36.13
Dystonia 16, 612067 (3)	PRKRA, PACT, RAX, DYT16	603424	2q31.2
Dystonia 2, torsion, autosomal recessive, 224500 (3)	HPCA, DYT2	142622	1p35.1
Dystonia 21 (2)	DYT21	614588	2q14.3-q21.3
Dystonia 23 (2)	DYT23	614860	9q34
Dystonia 24, 615034 (3)	ANO3, TMEM16C, C11orf25, DYT24	610110	11p14.3-p14.2
Dystonia 25, 615073 (3)	GNAL, DYT25	139312	18p11.21
Dystonia 26, myoclonic, 616398 (3)	KCTD17	616386	22q12.3
Dystonia 27, 616411 (3)	COL6A3, DYT27, BTHLM1, UCMD1	120250	2q37.3
Dystonia 28, childhood-onset, 617284 (3)	KMT2B, MLL4, KIAA0304, DYT28	606834	19q13.12
Dystonia 30, 619291 (3)	VPS16, DYT30	608550	20p13
Dystonia 31, 619565 (3)	AOPEP, C9orf3, DYT31	619600	9q22.32
Dystonia 33, 619687 (3)	EIF2AK2, PRKR, LEUDEN, DYT33	176871	2p22.2
Dystonia 4, torsion, autosomal dominant, 128101 (3)	TUBB4A, DYT4, HLD6	602662	19p13.3
Dystonia 6, torsion, 602629 (3)	THAP1, DYT6	609520	8p11.21
Dystonia 9, 601042 (3)	SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN	138140	1p34.2
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)	GCH1, DYT5, HPABH4B	600225	14q22.2
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3)	MECR, NRBF1, DYTOABG	608205	1p35.3
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)	SPR	182125	2p13.2
Dystonia, early-onset, and/or spastic paraplegia, 619681 (3)	ATP5MC3, ATP5G3, DYTSPG	602736	2q31.1
Dystonia-1, torsion, 128100 (3)	TOR1A, DYT1, AMC5	605204	9q34.11
Dystonia-11, myoclonic, 159900 (3)	SGCE, DYT11	604149	7q21.3
Dystonia-12, 128235 (3)	ATP1A3, DYT12, RDP, AHC2, CAPOS, DEE99	182350	19q13.2
Dystonia-15, myoclonic (2)	DYT15	607488	18p11
Dystonia-17, primary torsion (2)	DYT17	612406	20p11.2-q13.12
Dystonia-7, torsion (2)	DYT7	602124	18p
Dystonia-Parkinsonism, X-linked, 314250 (3)	TAF1, TAF2A, CCG1, BA2R, DYT3, MRXS33	313650	Xq13.1
EBD inversa, 226600 (3)	COL7A1, NDNC8	120120	3p21.31
EBD, Bart type, 132000 (3)	COL7A1, NDNC8	120120	3p21.31
EBD, localisata variant (3)	COL7A1, NDNC8	120120	3p21.31
EDICT syndrome, 614303 (3)	MIR184, MIRN184, KTCNCT, EDICT	613146	15q25.1
ENDOVE syndrome, limb-only type (4)	ENDOVESL	619217	2q14
Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)	EDA, ED1, ECTD1, HED1, STHAGX1	300451	Xq13.1
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3)	EDAR, DL, ED3, EDA3, HRM1, ECTD10A, ECTD10B	604095	2q13
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)	EDAR, DL, ED3, EDA3, HRM1, ECTD10A, ECTD10B	604095	2q13
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3)	EDARADD, ED3, EDA3, ECTD11B, ECTD11A	606603	1q42.3-q43
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3)	EDARADD, ED3, EDA3, ECTD11B, ECTD11A	606603	1q42.3-q43
Ectodermal dysplasia 13, hair/tooth type, 617392 (3)	KREMEN1, KRM1, ECTD13	609898	22q12.1
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 (3)	TSPEAR, C21orf29, DFNB98, ECTD14	612920	21q22.3
Ectodermal dysplasia 2, Clouston type, 129500 (3)	GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2	604418	13q12.11
Ectodermal dysplasia 3, Witkop type, 189500 (3)	MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3	142983	4p16.2
Ectodermal dysplasia 4, hair/nail type, 602032 (3)	KRT85, KRTHB5, HB5, ECTD4	602767	12q13.13
Ectodermal dysplasia 5, hair/nail type (2)	ECTD5	614927	10q24.32-q25.1
Ectodermal dysplasia 6, hair/nail type (2)	ECTD6	614928	17p12-q21.2
Ectodermal dysplasia 8, hair/tooth/nail type (2)	ECTD8	602401	18q22.1-q22.3
Ectodermal dysplasia 9, hair/nail type, 614931 (3)	HOXC13, HOX3G, ECTD9	142976	12q13.13
Ectodermal dysplasia and immunodeficiency 1, 300291 (3)	IKBKG, NEMO, FIP3, IP, EDAID1, IMD33	300248	Xq28
Ectodermal dysplasia and immunodeficiency 2, 612132 (3)	NFKBIA, IKBA, EDAID2	164008	14q13.2
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, 618727 (3)	RHOA, ARHA, ARH12, RHOH12, EDFAOB	165390	3p21.31
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)	CDH3, CDHP, PCAD, HJMD	114021	16q22.1
Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3)	NECTIN 4, PVRL4, PRR4, EDSS1	609607	1q23.3
Ectodermal dysplasia-syndactyly syndrome 2 (2)	EDSS2	613576	7p21.2-p14.3
Ectodermal dysplasia/short stature syndrome, 616029 (3)	GRHL2, TFCP2L3, DFNA28, ECTDS, PPCD4	608576	8q22.3
Ectodermal dysplasia/skin fragility syndrome, 604536 (3)	PKP1, EDSFS	601975	1q32.1
Ectopia lentis et pupillae, 225200 (3)	ADAMTSL4, TSRC1, ECTOL2	610113	1q21.2
Ectopia lentis, familial, 129600 (3)	FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS	134797	15q21.1
Ectopia lentis, isolated, autosomal recessive, 225100 (3)	ADAMTSL4, TSRC1, ECTOL2	610113	1q21.2
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3)	TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8	603273	3q28
Efavirenz, poor metabolism of, 614546 (3)	CYP2B6, CYP2B, EFVM	123930	19q13.2
Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3)	COL1A1, OI1, OI2, OI3, OI4, EDSARTH1, CAFYD	120150	17q21.33
Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3)	COL1A2, EDSCV, EDSARTH2	120160	7q21.3
Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3)	COL1A2, EDSCV, EDSARTH2	120160	7q21.3
Ehlers-Danlos syndrome, classic type, 1, 130000 (3)	COL5A1, EDSCL1, FMDMF	120215	9q34.3
Ehlers-Danlos syndrome, classic type, 2, 130010 (3)	COL5A2, EDSCL2	120190	2q32.2
Ehlers-Danlos syndrome, classic-like, 1 606408 (3)	TNXB, TNX, TNXB1, TNXBS, TNXB2, EDSCLL1, VUR8	600985	6p21.33-p21.32
Ehlers-Danlos syndrome, classic-like, 2, 618000 (3)	AEBP1, ACLP	602981	7p13
Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)	ADAMTS2, NPI, EDSDERMS	604539	5q35.3
Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3)	PLOD1, LH1, LLH, EDSKCL1	153454	1p36.22
Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 (3)	FKBP14, EDSKSCL2	614505	7p14.3
Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)	CHST14, D4ST1, ATCS, EDSMC1	608429	15q15.1
Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3)	DSE, SART2, EDSMC2	605942	6q22.1
Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3)	C1R, EDSPD1	613785	12p13.31
Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3)	C1S, EDSPD2	120580	12p13.31
Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3)	B4GALT7, XGALT1, XGPT1, EDSSPD1	604327	5q35.3
Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3)	B3GALT6, SEMDJL1, EDSSPD2, ALGAZ	615291	1p36.33
Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)	SLC39A13, ZIP13, EDSSPD3	608735	11p11.2
Ehlers-Danlos syndrome, vascular type, 130050 (3)	COL3A1, EDSVASC, PMGEDSV	120180	2q32.2
Eiken syndrome, 600002 (3)	PTH1R, PTHR1, PTHR, PFE, EKNS	168468	3p21.31
Electroencephalographic variant pattern 1 (2)	EEGV1, EEGL	130180	20q13.2-q13.3
Elliptocytosis-1, 611804 (3)	EPB41, EL1	130500	1p35.3
Elliptocytosis-2, 130600 (3)	SPTA1, EL2, SPH3, HS3, HPP	182860	1q23.1
Elliptocytosis-3, 617948 (3)	SPTB, SPH2, EL3, HS2	182870	14q23.3
Ellis-van Creveld syndrome, 225500 (3)	EVC	604831	4p16.2
Ellis-van Creveld syndrome, 225500 (3)	EVC2, LBN, WAD	607261	4p16.2
Elsahy-Waters syndrome, 211380 (3)	CDH11, CAD11, ESWS, TBHS2	600023	16q21
Emanuel syndrome (4)	DER22t11-22	609029	22q11.2
Emberger syndrome, 614038 (3)	GATA2, DCML, MONOMAC, IMD21	137295	3q21.3
Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)	EMD, EDMD, STA	300384	Xq28
Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3)	LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS	150330	1q22
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3)	LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS	150330	1q22
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)	SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4, AMC3	608441	6q25.2
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)	SYNE2, NUANCE, KIAA1011, EDMD5	608442	14q23.2
Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)	FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B, FCMSU	300163	Xq26.3
Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3)	TMEM43, ARVD5, ARVC5, EDMD7, AUNA3	612048	3p25.1
Emphysema due to AAT deficiency, 613490 (3)	SERPINA1, PI, AAT	107400	14q32.13
Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)	SERPINA1, PI, AAT	107400	14q32.13
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 (3)	MYRF, C11orf9, KIAA0954, MMERV, CUGS	608329	11q12.2
Encephalocraniocutaneous lipomatosis, somatic mosaic, 613001 (3)	FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL	136350	8p11.23
Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)	MFF, C2orf33, EMPF2	614785	2q36.3
Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3)	SERPINI1, PI12	602445	3q26.1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3)	DNM1L, DRP1, DVLP, DYMPLE, EMPF1, OPA5	603850	12p11.21
Encephalopathy, neonatal severe, 300673 (3)	MECP2, RTT, PPMX, AUTSX3, MRXSL, MRXS13	300005	Xq28
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3)	LIPT2	617659	11q13.4
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3)	TRAPPC12, TTC15, PEBAS	614139	2p25.3
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)	TBCD, PEBAT	604649	17q25.3
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321 (3)	NAXD, CARKD, PEBEL2	615910	13q34
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3)	NAXE, APOA1BP, AIBP, PEBEL	608862	1q22
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 (3)	TRAPPC2L, PERRB	610970	16q24.3
Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3)	TBCE, KCS, KCS1, HRD, PEAMO	604934	1q42.3
Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)	BSCL2, SPG17, HMN5, PELD, HMN5C	606158	11q12.3
Endocrine-cerebroosteodysplasia, 612651 (3)	ICK, MRK, KIAA0936, ECO, EJM10	612325	6p12.1
Endometrial carcinoma, somatic, 608089 (3)	CDH1, UVO, LCAM, ECAD, BCDS1	192090	16q22.1
Endometrial carcinoma, somatic, 608089 (3)	MSH3, FAP4	600887	5q14.1
Enhanced S-cone syndrome, 268100 (3)	NR2E3, PNR, ESCS, RP37	604485	15q23
Enlarged vestibular aqueduct, 600791 (3)	FOXI1, FKHL10, FREAC6	601093	5q35.1
Enlarged vestibular aqueduct, digenic, 600791 (3)	KCNJ10, SESAME	602208	1q23.2
Enterokinase deficiency, 226200 (3)	TMPRSS15, PRSS7, ENTK	606635	21q21.1
Enuresis, nocturnal, 1 (2)	ENUR1	600631	13q13-q14.3
Enuresis, nocturnal, 2 (2)	ENUR2	600808	12q13-q21
Eosinophilia, familial (2)	EOS	131400	5q31-q33
Epidermal nevus, somatic, 162900 (3)	NRAS, ALPS4, NS6, CMNS, NCMS	164790	1p13.2
Epidermodysplasia verruciformis 2, 618231 (3)	TMC8, EVER2, EV2	605829	17q25.3
Epidermodysplasia verruciformis 3, 618267 (3)	CIB1, KIP	602293	15q26.1
Epidermodysplasia verruciformis, 226400 (3)	TMC6, EVER1, EV1	605828	17q25.3
Epidermolysis bullosa dystrophica, AD, 131750 (3)	COL7A1, NDNC8	120120	3p21.31
Epidermolysis bullosa dystrophica, AR, 226600 (3)	COL7A1, NDNC8	120120	3p21.31
Epidermolysis bullosa pruriginosa, 604129 (3)	COL7A1, NDNC8	120120	3p21.31
Epidermolysis bullosa simplex 1A, generalized severe, 131760 (3)	KRT14, EBS1A, EBS1B, EBS1C, EBS1D	148066	17q21.2
Epidermolysis bullosa simplex 1B, generalized intermediate, 131900 (3)	KRT14, EBS1A, EBS1B, EBS1C, EBS1D	148066	17q21.2
Epidermolysis bullosa simplex 1C, localized, 131800 (3)	KRT14, EBS1A, EBS1B, EBS1C, EBS1D	148066	17q21.2
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, 601001 (3)	KRT14, EBS1A, EBS1B, EBS1C, EBS1D	148066	17q21.2
Epidermolysis bullosa simplex 2A, generalized severe, 619555 (3)	KRT5, DDD1, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F	148040	12q13.13
Epidermolysis bullosa simplex 2B, generalized intermediate, 619588 (3)	KRT5, DDD1, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F	148040	12q13.13
Epidermolysis bullosa simplex 2C, localized, 619594 (3)	KRT5, DDD1, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F	148040	12q13.13
Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, 619599 (3)	KRT5, DDD1, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F	148040	12q13.13
Epidermolysis bullosa simplex 2E, with migratory circinate erythema, 609352 (3)	KRT5, DDD1, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F	148040	12q13.13
Epidermolysis bullosa simplex 2F, with mottled pigmentation, 131960 (3)	KRT5, DDD1, EBS2A, EBS2B, EBS2C, EBS2D, EBS2E, EBS2F	148040	12q13.13
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency, 615425 (3)	DST, BPAG1, DMH, D6S1101, HSAN6, EBS3	113810	6p12.1
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, 615028 (3)	EXPH5, SLAC2B, KIAA0624, EBS4	612878	11q22.3
Epidermolysis bullosa simplex 5A, Ogna type, 131950 (3)	PLEC1, PLEC, PLTN, LGMDR17, EBS5A, EBS5B, EBS5C, EBS5D	601282	8q24.3
Epidermolysis bullosa simplex 5B, with muscular dystrophy, 226670 (3)	PLEC1, PLEC, PLTN, LGMDR17, EBS5A, EBS5B, EBS5C, EBS5D	601282	8q24.3
Epidermolysis bullosa simplex 5C, with pyloric atresia, 612138 (3)	PLEC1, PLEC, PLTN, LGMDR17, EBS5A, EBS5B, EBS5C, EBS5D	601282	8q24.3
Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, 617294 (3)	KLHL24, KRIP6, EBS6	611295	3q27.1
Epidermolysis bullosa simplex 7, with nephropathy and deafness, 609057 (3)	CD151, PETA3, SFA1, MER2, EBS7	602243	11p15.5
Epidermolysis bullosa, junctional 1A, intermediate, 226650 (3)	LAMB3, AI1A, JEB1B, JEB1A	150310	1q32.2
Epidermolysis bullosa, junctional 1B, severe, 226700 (3)	LAMB3, AI1A, JEB1B, JEB1A	150310	1q32.2
Epidermolysis bullosa, junctional 2A, intermediate, 619783 (3)	LAMA3, LOCS, JEB2A, JEB2B, JEB2C	600805	18q11.2
Epidermolysis bullosa, junctional 2B, severe, 619784 (3)	LAMA3, LOCS, JEB2A, JEB2B, JEB2C	600805	18q11.2
Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous, 245660 (3)	LAMA3, LOCS, JEB2A, JEB2B, JEB2C	600805	18q11.2
Epidermolysis bullosa, junctional 3A, intermediate, 619785 (3)	LAMC2, LAMNB2, LAMB2T, JEB3A, JEB3B	150292	1q25.3
Epidermolysis bullosa, junctional 3B, severe, 619786 (3)	LAMC2, LAMNB2, LAMB2T, JEB3A, JEB3B	150292	1q25.3
Epidermolysis bullosa, junctional 4, intermediate, 619787 (3)	COL17A1, BPAG2, ERED, JEB4	113811	10q25.1
Epidermolysis bullosa, junctional 5A, intermediate, 619816 (3)	ITGB4, JEB5B, JEB5A	147557	17q25.1
Epidermolysis bullosa, junctional 5B, with pyloric atresia, 226730 (3)	ITGB4, JEB5B, JEB5A	147557	17q25.1
Epidermolysis bullosa, junctional 6, with pyloric atresia, 619817 (3)	ITGA6, JEB6	147556	2q31.1
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, 614748 (3)	ITGA3, CD49C, GAPB3, JEB7	605025	17q21.33
Epidermolysis bullosa, lethal acantholytic, 609638 (3)	DSP, KPPS2, PPKS2, DCWHKTA	125647	6p24.3
Epidermolysis bullosa, pretibial, 131850 (3)	COL7A1, NDNC8	120120	3p21.31
Epidermolytic hyperkeratosis, 113800 (3)	KRT1, EPPK, NEPPK, EHK	139350	12q13.13
Epidermolytic hyperkeratosis, 113800 (3)	KRT10, EHK, BCIE, BIE	148080	17q21.2
Epilepsy nocturnal frontal lobe, 5, 615005 (3)	KCNT1, KIAA1422, DEE14, ENFL5	608167	9q34.3
Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)	SYN1, EPILX, MRX50	313440	Xp11.3-p11.23
Epilepsy, childhood absence, 1 (2)	ECA1	600131	8q24
Epilepsy, early-onset, vitamin B6-dependent, 617290 (3)	PLPBP, PROSC, EPVB6D	604436	8p11.23
Epilepsy, early-onset, with or without developmental delay, 618832 (3)	SETD1A, SET1A, SET1, KIAA0339, EPEDD, NEDSID	611052	16p11.2
Epilepsy, familial adult myoclonic, 1, 601068 (3)	SAMD12	618073	8q24.11-q24.12
Epilepsy, familial adult myoclonic, 2, 607876 (3)	STARD7, GTT1, FAME2	616712	2q11.2
Epilepsy, familial adult myoclonic, 3, 613608 (3)	MARCH6, TEB4, DOA10, KIAA0597, FAME3	613297	5p15.2
Epilepsy, familial focal, with variable foci 1, 604364 (3)	DEPDC5, KIAA0645, FFEVF1	614191	22q12.2-q12.3
Epilepsy, familial focal, with variable foci 2, 617116 (3)	NPRL2, FFEVF2	607072	3p21.31
Epilepsy, familial focal, with variable foci 3, 617118 (3)	NPRL3, CGTHBA, FFEVF3	600928	16p13.3
Epilepsy, familial focal, with variable foci 4, 617935 (3)	SCN3A, FFEVF4, DEE62	182391	2q24.3
Epilepsy, familial temporal lobe, 1, 600512 (3)	LGI1, EPT, ETL1, ADLTE, ADPEAF	604619	10q23.33
Epilepsy, familial temporal lobe, 2 (2)	ETL2, FTLE	608096	12q22-q23.3
Epilepsy, familial temporal lobe, 3 (2)	ETL3, FMTLE	611630	4q13.2-q21.3
Epilepsy, familial temporal lobe, 4 (2)	ETL4, ETOLM	611631	9q21-q22
Epilepsy, familial temporal lobe, 5, 614417 (3)	CPA6, CPAH, ETL5, FEB11	609562	8q13.2
Epilepsy, familial temporal lobe, 6 (2)	ETL6	615697	3q25-q26
Epilepsy, focal, with speech disorder and with or without impaired intellectual development, 245570 (3)	GRIN2A, NMDAR2A, FESD, LKS	138253	16p13.2
Epilepsy, hot water, 1 (2)	HWE1	613339	10q21.3-q22.3
Epilepsy, hot water, 2 (2)	HWE2	613340	4q24-q28
Epilepsy, juvenile myoclonic (2)	EIG7, EJM2	604827	15q14
Epilepsy, juvenile myoclonic 3 (2)	EJM3	608816	6p21
Epilepsy, nocturnal frontal lobe, 1, 600513 (3)	CHRNA4, ENFL1	118504	20q13.33
Epilepsy, nocturnal frontal lobe, 3, 605375 (3)	CHRNB2, EFNL3	118507	1q21.3
Epilepsy, nocturnal frontal lobe, type 2 (2)	ENFL2	603204	15q24
Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)	CHRNA2	118502	8p21.2
Epilepsy, partial, with pericentral spikes (2)	EPPS	607221	4p15
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)	CSTB, STFB, EPM1, PME, EPM1A, ULD	601145	21q22.3
Epilepsy, progressive myoclonic 1B, 612437 (3)	PRICKLE1, RILP, EPM1B	608500	12q12
Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)	EPM2A, MELF, EPM2	607566	6q24.3
Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)	NHLRC1, EPM2A, EPM2B	608072	6p22.3
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)	KCTD7, EPM3, CLN14	611725	7q11.21
Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)	SCARB2, CD36L2, LIMPII, AMRF, EPM4	602257	4q21.1
Epilepsy, progressive myoclonic 6, 614018 (3)	GOSR2, GS27, EPM6	604027	17q21.32
Epilepsy, progressive myoclonic 7, 616187 (3)	KCNC1, EPM7	176258	11p15.1
Epilepsy, progressive myoclonic, 11, 618876 (3)	SEMA6B, EPM11	608873	19p13.3
Epilepsy, progressive myoclonic, 12, 619191 (3)	SLC7A6OS, EPM12	619192	16q22.1
Epilepsy, progressive myoclonic, 8, 616230 (3)	CERS1, LASS1, UOG1, EPM8	606919	19p13.11
Epilepsy, pyridoxine-dependent, 266100 (3)	ALDH7A1, ATQ1, EPD, PDE	107323	5q23.2
Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, 608105 (3)	TBC1D24, KIAA1171, FIME, DEE16, DOORS, DFNB86, DFNA65, EPRPDC	613577	16p13.3
Epiphyseal chondrodysplasia, Miura type, 615923 (3)	NPR2, ANPRB, AMD1, ECDM, SNSK	108961	9p13.3
Epiphyseal dysplasia, multiple, 1, 132400 (3)	COMP, EDM1, MED, PSACH, CTS2	600310	19p13.11
Epiphyseal dysplasia, multiple, 2, 600204 (3)	COL9A2, EDM2, STL5	120260	1p34.2
Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)	COL9A3, EDM3, IDD	120270	20q13.33
Epiphyseal dysplasia, multiple, 4, 226900 (3)	SLC26A2, DTD, DTDST, D5S1708, EDM4	606718	5q32
Epiphyseal dysplasia, multiple, 5, 607078 (3)	MATN3, EDM5, HOA, OS2, SEMDBCD	602109	2p24.1
Epiphyseal dysplasia, multiple, 7, 617719 (3)	CANT1, SCAN1, DBQD1, EDM7	613165	17q25.3
Episodic ataxia, type 2, 108500 (3)	CACNA1A, CACNL1A4, SCA6, DEE42	601011	19p13.13
Episodic ataxia, type 3 (2)	EA3	606554	1q42
Episodic ataxia, type 5, 613855 (3)	CACNB4, EJM6, EA5, EIG9	601949	2q23.3
Episodic ataxia, type 6, 612656 (3)	SLC1A3, EAAT1, EA6	600111	5p13.2
Episodic ataxia, type 7 (2)	EA7	611907	19q13
Episodic ataxia, type 8 (2)	EA8	616055	1p36.13-p34.3
Episodic ataxia, type 9, 618924 (3)	SCN2A, SCN2A1, BFIC3, DEE11, BFIS3, BFNIS, EA9	182390	2q24.3
Episodic ataxia/myokymia syndrome, 160120 (3)	KCNA1, AEMK, EA1	176260	12p13.32
Episodic kinesigenic dyskinesia 1, 128200 (3)	PRRT2, PKC, DYT10, EKD1, BFIS2, BFIC2, ICCA	614386	16p11.2
Episodic kinesigenic dyskinesia 2 (2)	EKD2	611031	16q13-q22.1
Episodic muscle weakness, X-linked (2)	EMWX	300211	Xp22.3
Episodic pain syndrome, familial, 2, 615551 (3)	SCN10A, FEPS2	604427	3p22.2
Episodic pain syndrome, familial, 3, 615552 (3)	SCN11A, HSAN7, FEPS3	604385	3p22.2
Epithelial recurrent erosion dystrophy, 122400 (3)	COL17A1, BPAG2, ERED, JEB4	113811	10q25.1
Erythermalgia, primary, 133020 (3)	SCN9A, NENA, PN1, SFNP, HSAN2D	603415	2q24.3
Erythrocyte lactate transporter defect, 245340 (3)	SLC16A1, MCT1, HHF7, MCT1D	600682	1p13.2
Erythrocytosis 6, 617980 (3)	HBB, ECYT6	141900	11p15.4
Erythrocytosis 7, 617981 (3)	HBA1, HBH, METHBA, ECYT7	141800	16p13.3
Erythrocytosis 7, 617981 (3)	HBA2, HBH, ECYT7	141850	16p13.3
Erythrocytosis, familial, 2, 263400 (3)	VHL	608537	3p25.3
Erythrocytosis, familial, 3, 609820 (3)	EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3, HALAH	606425	1q42.2
Erythrocytosis, familial, 4, 611783 (3)	EPAS1, MOP2, HIF2A, ECYT4	603349	2p21
Erythrocytosis, familial, 5, 617907 (3)	EPO, MVCD2, ECYT5, DBAL	133170	7q22.1
Erythrocytosis, familial, 8, 222800 (3)	BPGM, ECYT8	613896	7q33
Erythrocytosis, somatic, 133100 (3)	JAK2, THCYT3	147796	9p24.1
Erythrocytosis, somatic, 133100 (3)	SH2B3, LNK	605093	12q24.12
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)	DSG1, PPKS1, SPPK1, EPKHE	125670	18q12.1
Erythrokeratodermia variabilis et progressiva 1, 133200 (3)	GJB3, CX31, DFNA2B, EKVP1	603324	1p34.3
Erythrokeratodermia variabilis et progressiva 2, 617524 (3)	GJB4, CX30.3, EKVP2	605425	1p34.3
Erythrokeratodermia variabilis et progressiva 3, 617525 (3)	GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP3	121014	6q22.31
Erythrokeratodermia variabilis et progressiva 4, 617526 (3)	KDSR, FVT1, EKVP4	136440	18q21.33
Erythrokeratodermia variabilis et progressiva 5, 617756 (3)	KRT83, KRTHB3, HB3, MNLIX, EKVP5	602765	12q13.13
Erythrokeratodermia variabilis et progressiva 6, 618531 (3)	TRPM4, PFHB1B, EKVP6	606936	19q13.33
Erythrokeratodermia variabilis et progressiva 7, 619209 (3)	PERP, OLMS2, EKVP7	609301	6q23.3
Escobar syndrome, 265000 (3)	CHRNG, ACHRG	100730	2q37.1
Esophageal cancer, somatic, 133239 (3)	TGFBR2, HNPCC6, AAT3, MFS2, LDS2	190182	3p24.1
Esophageal carcinoma, somatic, 133239 (3)	DCC, MRMV1, HGPPS2	120470	18q21.2
Esophageal carcinoma, somatic, 133239 (3)	RNF6	604242	13q12.13
Esophageal squamous cell carcinoma, somatic, 133239 (3)	LZTS1, F37, FEZ1	606551	8p21.3
Esophageal squamous cell carcinoma, somatic, 133239 (3)	WWOX, FOR, SCAR12, DEE28	605131	16q23.1-q23.2
Essential tremor, hereditary, 2 (2)	ETM2, ETM	602134	2p25-p22
Essential tremor, hereditary, 3 (2)	ETM3	611456	6p23
Essential tremor, hereditary, 4, 614782 (3)	FUS, TLS, ALS6, ETM4	137070	16p11.2
Essential tremor, hereditary, 5, 616736 (3)	TENM4, ODZ4, TNM4, DOC4, KIAA1302, ETM5	610084	11q14.1
Estrogen resistance, 615363 (3)	ESR1, ESR, ESTRR	133430	6q25.1-q25.2
Ethylmalonic encephalopathy, 602473 (3)	ETHE1, HSCO, D83198	608451	19q13.31
Even-plus syndrome, 616854 (3)	HSPA9, HSPA9B, MOT2, GRP75, EVPLS, SIDBA4	600548	5q31.2
Ewing sarcoma, 612219 (3)	EWSR1, EWS	133450	22q12.2
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3)	COX4I2	607976	20q11.21
Exostoses, multiple, type 1, 133700 (3)	EXT1	608177	8q24.11
Exostoses, multiple, type 2, 133701 (3)	EXT2, SSMS	608210	11p11.2
Exostoses, multiple, type 3 (2)	EXT3	600209	19p
Extraoral halitosis due to MTO deficiency, 618148 (3)	SELENBP1, SP56, EHMTO	604188	1q21.3
Exudative vitreoretinopathy 1, 133780 (3)	FZD4, EVR1	604579	11q14.2
Exudative vitreoretinopathy 2, X-linked, 305390 (3)	NDP, ND, EVR2	300658	Xp11.3
Exudative vitreoretinopathy 3 (2)	EVR3	605750	11p13-p12
Exudative vitreoretinopathy 4, 601813 (3)	LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4	603506	11q13.2
Exudative vitreoretinopathy 5, 613310 (3)	TSPAN12, NET2, EVR5	613138	7q31.31
Exudative vitreoretinopathy 7, 617572 (3)	CTNNB1, NEDSDV, EVR7	116806	3p22.1
FG syndrome 3 (2)	FGS3	300406	Xp22.3
FG syndrome 4, 300422 (3)	CASK, MICPCH, FGS4, CMG, MRXSNA	300172	Xp11.4
FG syndrome 5 (2)	FGS5	300581	Xq22.3
FILS syndrome, 615139 (3)	POLE, CRCS12, FILS, IMAGEI	174762	12q24.33
FINCA syndrome, 618278 (3)	NHLRC2, FINCA	618277	10q25.3
Fabry disease, 301500 (3)	GLA	300644	Xq22.1
Fabry disease, cardiac variant, 301500 (3)	GLA	300644	Xq22.1
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 (3)	KCNK4, TRAAK, FHEIG	605720	11q13.1
Facial paresis, hereditary congenital, 1 (2)	HCFP1, MBS2	601471	3q21-q22
Facial paresis, hereditary congenital, 2 (2)	HCFP2	604185	10q21.3-q22.1
Facial paresis, hereditary congenital, 3, 614744 (3)	HOXB1, HOX2I, HCFP3	142968	17q21.32
Facioscapulohumeral muscular dystrophy 1 (4)	FSHD1, FSHD1A	158900	4q35
Facioscapulohumeral muscular dystrophy 4, digenic, 619478 (3)	DNMT3B, ICF1, FSHD4	602900	20q11.21
Factor V and factor VIII, combined deficiency of, 613625 (3)	MCFD2, F5F8D2	607788	2p21
Factor V deficiency, 227400 (3)	F5, THPH2, RPRGL1	612309	1q24.2
Factor VII deficiency, 227500 (3)	F7	613878	13q34
Factor X deficiency, 227600 (3)	F10	613872	13q34
Factor XI deficiency, autosomal dominant, 612416 (3)	F11	264900	4q35.2
Factor XI deficiency, autosomal recessive, 612416 (3)	F11	264900	4q35.2
Factor XII deficiency, 234000 (3)	F12, HAF, HAE3	610619	5q35.3
Factor XIIIA deficiency, 613225 (3)	F13A1, F13A	134570	6p25.1
Factor XIIIB deficiency, 613235 (3)	F13B	134580	1q31.3
Failure of tooth eruption, primary, 125350 (3)	PTH1R, PTHR1, PTHR, PFE, EKNS	168468	3p21.31
Familial Mediterranean fever, AD, 134610 (3)	MEFV, MEF, FMF, PAAND	608107	16p13.3
Familial Mediterranean fever, AR, 249100 (3)	MEFV, MEF, FMF, PAAND	608107	16p13.3
Familial adenomatous polyposis 3, 616415 (3)	NTHL1, OCTS3, FAP3	602656	16p13.3
Familial adenomatous polyposis 4, 617100 (3)	MSH3, FAP4	600887	5q14.1
Familial cold autoinflammatory syndrome 2, 611762 (3)	NLRP12, NALP12, PYPAF7, RNO, FCAS2	609648	19q13.42
Familial cold autoinflammatory syndrome 3, 614468 (3)	PLCG2, FCAS3, APLAID	600220	16q23.3
Familial cold inflammatory syndrome 1, 120100 (3)	NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH	606416	1q44
Fanconi anemia, complementation group A, 227650 (3)	FANCA, FACA, FA1, FA, FAA	607139	16q24.3
Fanconi anemia, complementation group B, 300514 (3)	FANCB, FAAP95, FAAP90, FLJ34064	300515	Xp22.2
Fanconi anemia, complementation group C, 227645 (3)	FANCC, FACC	613899	9q22.32
Fanconi anemia, complementation group D1, 605724 (3)	BRCA2, FANCD1, BROVCA2, GLM3, PNCA2	600185	13q13.1
Fanconi anemia, complementation group D2, 227646 (3)	FANCD2, FANCD, FACD, FAD	613984	3p25.3
Fanconi anemia, complementation group E, 600901 (3)	FANCE, FACE	613976	6p21.31
Fanconi anemia, complementation group F, 603467 (3)	FANCF	613897	11p14.3
Fanconi anemia, complementation group G, 614082 (3)	XRCC9, FANCG	602956	9p13.3
Fanconi anemia, complementation group I, 609053 (3)	FANCI, KIAA1794	611360	15q26.1
Fanconi anemia, complementation group J, 609054 (3)	BRIP1, BACH1, FANCJ	605882	17q23.2
Fanconi anemia, complementation group L, 614083 (3)	PHF9, FANCL	608111	2p16.1
Fanconi anemia, complementation group N, 610832 (3)	PALB2, FANCN, PNCA3	610355	16p12.2
Fanconi anemia, complementation group O, 613390 (3)	RAD51C, FANCO, BROVCA3	602774	17q22
Fanconi anemia, complementation group P, 613951 (3)	SLX4, BTBD12, MUS312, KIAA1784, KIAA1987, FANCP	613278	16p13.3
Fanconi anemia, complementation group Q, 615272 (3)	ERCC4, XPF, FANCQ, XFEPS	133520	16p13.12
Fanconi anemia, complementation group R, 617244 (3)	RAD51, RECA, MRMV2, FANCR	179617	15q15.1
Fanconi anemia, complementation group S, 617883 (3)	BRCA1, PSCP, BROVCA1, PNCA4, FANCS	113705	17q21.31
Fanconi anemia, complementation group T, 616435 (3)	UBE2T, HSPC150, FANCT	610538	1q32.1
Fanconi renotubular syndrome 1, 134600 (3)	GATM, AGAT, CCDS3, FRTS1	602360	15q21.1
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3)	HNF4A, TCF14, MODY1, FRTS4	600281	20q13.12
Fanconi renotubular syndrome 5, 618913 (3)	NDUFAF6, C8orf38, MC1DN17, FRTS5	612392	8q22.1
Fanconi-Bickel syndrome, 227810 (3)	SLC2A2, GLUT2	138160	3q26.2
Farber lipogranulomatosis, 228000 (3)	ASAH1, AC, SMAPME	613468	8p22
Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)	SMCHD1, KIAA0650, BAMS	614982	18p11.32
Fatty liver, acute, of pregnancy, 609016 (3)	HADHA, MTPA	600890	2p23.3
Faundes-Banka syndrome, 619376 (3)	EIF5A, FABAS	600187	17p13.1
Febrile seizures, familial, 1 (2)	FEB1	121210	8q13-q21
Febrile seizures, familial, 10 (2)	FEB10	612637	3q26.2-q26.33
Febrile seizures, familial, 11, 614418 (3)	CPA6, CPAH, ETL5, FEB11	609562	8q13.2
Febrile seizures, familial, 2 (2)	FEB2	602477	19p13.3
Febrile seizures, familial, 2, 602477 (3)	HCN2, BCNG2, GEFSP11, FEB2, EIG17	602781	19p13.3
Febrile seizures, familial, 3A, 604403 (3)	SCN1A, GEFSP2, SMEI, FEB3A, DEE6A, DRVT, FHM3, DEE6B	182389	2q24.3
Febrile seizures, familial, 5 (2)	FEB5	609255	6q22-q24
Febrile seizures, familial, 6 (2)	FEB6	609253	18p11.2
Febrile seizures, familial, 7 (2)	FEB7	611515	21q22
Febrile seizures, familial, 8, 607681 (3)	GABRG2, DEE74, FEB8, ECA2, GEFSP3	137164	5q34
Febrile seizures, familial, 9 (2)	FEB9	611634	3p24.2-p23
Feingold syndrome 1, 164280 (3)	MYCN, NMYC, ODED, MODED	164840	2p24.3
Feingold syndrome 2 (4)	FGLDS2	614326	13q31.3
Ferguson-Bonni neurodevelopmental syndrome, 619699 (3)	ANAPC7, APC7, FERBON	606949	12q24.11
Fetal akinesia deformation sequence 1, 208150 (3)	MUSK, CMS9, FADS1	601296	9q31.3
Fetal akinesia deformation sequence 2, 618388 (3)	RAPSN, CMS1D, CMS11, FADS2	601592	11p11.2
Fetal akinesia deformation sequence 3, 618389 (3)	DOK7, C4orf25, CMS10, FADS3	610285	4p16.3
Fetal akinesia deformation sequence 4, 618393 (3)	NUP88, FADS4	602552	17p13.2
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, 619602 (3)	ATP1A2, FHM2, MHP2, FARIMPD, DEE98	182340	1q23.2
Fetal hemoglobin quantitative trait locus 1, 141749 (3)	HBG1	142200	11p15.4
Fetal hemoglobin quantitative trait locus 1, 141749 (3)	HBG2, TNCY	142250	11p15.4
Fetal hemoglobin quantitative trait locus 2 (2)	HBFQTL2, FCP	142470	6q22.3-q23.1
Fetal hemoglobin quantitative trait locus 3 (2)	HBFQTL3, FCP1, FCPX, FCP	305435	Xp22.2
Fetal hemoglobin quantitative trait locus 4 (2)	HBFQTL4	606789	8q
Fibrochondrogenesis 1, 228520 (3)	COL11A1, STL2, DFNA37	120280	1p21.1
Fibrochondrogenesis 2, 614524 (3)	COL11A2, DFNA13, DFNB53, FBCG2, OSMEDA, OSMEDB	120290	6p21.32
Fibrodysplasia ossificans progressiva, 135100 (3)	ACVR1, ACVRLK2, ALK2, FOP	102576	2q24.1
Fibromatosis, gingival, 2 (2)	GINGF2, GGF2, HGF2	605544	5q13-q22
Fibromatosis, gingival, 3 (2)	GINGF3, HGF3, GGF3	609955	2p23.3-p22.3
Fibromatosis, gingival, 4 (2)	GINGF4, HGF4, GGF4	611010	11p15
Fibromatosis, gingival, 5, 617626 (3)	REST, NRSF, WT6, GINGF5, HGF5, DFNA27	600571	4q12
Fibromuscular dysplasia, multifocal, 619329 (3)	COL5A1, EDSCL1, FMDMF	120215	9q34.3
Fibrosis of extraocular muscles, congenital, 1, 135700 (3)	KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3B	608283	12q12
Fibrosis of extraocular muscles, congenital, 2, 602078 (3)	PHOX2A, ARIX, CFEOM2	602753	11q13.4
Fibrosis of extraocular muscles, congenital, 3A, 600638 (3)	TUBB3, TUBB4, CFEOM3A, CDCBM1	602661	16q24.3
Fibrosis of extraocular muscles, congenital, 3B, 135700 (3)	KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3B	608283	12q12
Fibrosis of extraocular muscles, congenital, 3C (2)	CFEOM3C, FEOM4	609384	13q12.11
Fibrosis of extraocular muscles, congenital, 5, 616219 (3)	COL25A1, CLAC, CFEOM5	610004	4q25
Filippi syndrome, 272440 (3)	CKAP2L, RADMIS	616174	2q14.1
Fish-eye disease, 136120 (3)	LCAT	606967	16q22.1
Fletcher factor (prekallikrein) deficiency, 612423 (3)	KLKB1, KLK3, PKKD	229000	4q35.2
Floating-Harbor syndrome, 136140 (3)	SRCAP, SWR1, KIAA0309, FLHS, DEHMBA	611421	16p11.2
Focal cortical dysplasia, type II, somatic, 607341 (3)	MTOR, FRAP1, SKS	601231	1p36.22
Focal cortical dysplasia, type II, somatic, 607341 (3)	TSC1, LAM	605284	9q34.13
Focal dermal hypoplasia, 305600 (3)	PORCN, PORC, DHOF, FODH	300651	Xp11.23
Focal facial dermal dysplasia 3, Setleis type, 227260 (3)	TWIST2, DERMO1, SETLSS, FFDD3, BBRSAY, AMS	607556	2q37.3
Focal facial dermal dysplasia 4, 614974 (3)	CYP26C1, FFDD4	608428	10q23.33
Focal segmental glomerulosclerosis 10, 256020 (3)	LMX1B, NPS1, FSGS10	602575	9q33.3
Focal segmental glomerulosclerosis 8, 616032 (3)	ANLN, FSFS8	616027	7p14.2
Focal segmental glomerulosclerosis 9, 616220 (3)	CRB2, FSGS9, VMCKD	609720	9q33.3
Focal segmental glomerulosclerosis and neurodevelopmental syndrome, 619428 (3)	TRIM8, RNF27, GERP, FSGSNEDS	606125	10q24.32
Folate malabsorption, hereditary, 229050 (3)	SLC46A1, HCP1, PCFT	611672	17q11.2
Fontaine progeroid syndrome, 612289 (3)	SLC25A24, SCAMC1	608744	1p13.3
Forebrain defects (3)	TDGF1	187395	3p21.31
Forsythe-Wakeling syndrome (2)	FWS	613606	1p33-p31.1
Foveal hypoplasia 1, 136520 (3)	PAX6, AN2, MGDA, FVH1, ASGD5	607108	11p13
Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)	SLC38A8, FVH2	615585	16q23.3
Fragile X syndrome, 300624 (3)	FMR1, FRAXA, POF1	309550	Xq27.3
Fragile X tremor/ataxia syndrome, 300623 (3)	FMR1, FRAXA, POF1	309550	Xq27.3
Frank-ter Haar syndrome, 249420 (3)	SH3PXD2B, TKS4, KIAA1295, FTHS	613293	5q35.1
Fraser syndrome 1, 219000 (3)	FRAS1, FRASRS1	607830	4q21.21
Fraser syndrome 2, 617666 (3)	FREM2, FRASRS2, CRYPTOP	608945	13q13.3
Fraser syndrome 3, 617667 (3)	GRIP1, FRASRS3	604597	12q14.3
Frasier syndrome, 136680 (3)	WT1, NPHS4	607102	11p13
Frias syndrome (4)	FRIASS, DEL14q22, C14DELq22	609640	14q22.1-q22.3
Friedreich ataxia 2 (2)	FRDA2	601992	9p23-p11
Friedreich ataxia with retained reflexes, 229300 (3)	FXN, FRDA, FARR, X25	606829	9q21.11
Friedreich ataxia, 229300 (3)	FXN, FRDA, FARR, X25	606829	9q21.11
Frontometaphyseal dysplasia 1, 305620 (3)	FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2	300017	Xq28
Frontometaphyseal dysplasia 2, 617137 (3)	MAP3K7, TAK1, CSCF, FMD2	602614	6q15
Frontonasal dysplasia 1, 136760 (3)	ALX3, FND1	606014	1p13.3
Frontonasal dysplasia 2, 613451 (3)	ALX4, PFM2, FPP, FND2, CRS5	605420	11p11.2
Frontonasal dysplasia 3, 613456 (3)	ALX1, CART1, FND3	601527	12q21.31
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)	C9orf72, FTDALS1, FTDALS, ALSFTD	614260	9p21.2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3)	CHCHD10, FTDALS2, SMAJ, IMMD	615903	22q11.23
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3)	SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV	601530	5q35.3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3)	TBK1, NAK, FTDALS4, IIAE8	604834	12q14.2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, 619141 (3)	CCNF, FBX1, FTDALS5	600227	16p13.3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, 613954 (3)	VCP, IBMPFD1, CMT2Y, FTDALS6	601023	9p13.3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, 600795 (3)	CHMP2B, DMT1, VPS2B, FTDALS7	609512	3p11.2
Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3)	GRN, CLN11	138945	17q21.31
Frontotemporal lobar degeneration, TARDBP-related, 612069 (3)	TARDBP, TDP43, ALS10	605078	1p36.22
Fructose intolerance, hereditary, 229600 (3)	ALDOB	612724	9q31.1
Fructose-1,6-bisphosphatase deficiency, 229700 (3)	FBP1	611570	9q22.32
Fucosidosis, 230000 (3)	FUCA1	612280	1p36.11
Fuhrmann syndrome, 228930 (3)	WNT7A	601570	3p25.1
Fumarase deficiency, 606812 (3)	FH, HLRCC, MCUL1, FMRD	136850	1q43
Fundus albipunctatus, 136880 (3)	RDH5	601617	12q13.2
Fundus albipunctatus, 136880 (3)	RLBP1	180090	15q26.1
Fundus flavimaculatus, 248200 (3)	ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2	601691	1p22.1
GABA-transaminase deficiency, 613163 (3)	ABAT, GABAT	137150	16p13.2
GAND syndrome, 615074 (3)	GATAD2B, KIAA1150, p68, GANDS	614998	1q21.3
GAPO syndrome, 230740 (3)	ANTXR1, TEM8, ATR, GAPO	606410	2p13.3
GLOW syndrome, somatic mosaic, 618272 (3)	DICER1, HERNA, KIAA0928, MNG1, RMSE2, GLOW	606241	14q32.13
GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3)	SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN	138140	1p34.2
GLUT1 deficiency syndrome 2, childhood onset, 612126 (3)	SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN	138140	1p34.2
GM1-gangliosidosis, type I, 230500 (3)	GLB1, MPS4B	611458	3p22.3
GM1-gangliosidosis, type II, 230600 (3)	GLB1, MPS4B	611458	3p22.3
GM1-gangliosidosis, type III, 230650 (3)	GLB1, MPS4B	611458	3p22.3
GM2-gangliosidosis, AB variant, 272750 (3)	GM2A	613109	5q33.1
GM2-gangliosidosis, several forms, 272800 (3)	HEXA, TSD	606869	15q23
GRACILE syndrome, 603358 (3)	BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1	603647	2q35
Gabriele-de Vries syndrome, 617557 (3)	YY1, GADEVS	600013	14q32.2
Galactokinase deficiency with cataracts, 230200 (3)	GALK1	604313	17q25.1
Galactose epimerase deficiency, 230350 (3)	GALE	606953	1p36.11
Galactosemia IV, 618881 (3)	GALM, GLAT, GALAC4	137030	2p22.1
Galactosemia, 230400 (3)	GALT	606999	9p13.3
Galactosialidosis, 256540 (3)	CTSA, PPGB, GSL, NGBE, GLB2	613111	20q13.12
Gallbladder disease 1, 600803 (3)	ABCB4, PGY3, MDR3, ICP3	171060	7q21.12
Gallbladder disease 2 (2)	GBD2	609918	1p36.21
Gallbladder disease 3 (2)	GBD3	609919	1p34.3
Galloway-Mowat syndrome 1, 251300 (3)	WDR73, HSPC264, GAMOS1	616144	15q25.2
Galloway-Mowat syndrome 10, 619609 (3)	YRDC, IRIP, GAMOS10	612276	1p34.3
Galloway-Mowat syndrome 2, X-linked, 301006 (3)	LAGE3, ITBA2, GAMOS2	300060	Xq28
Galloway-Mowat syndrome 3, 617729 (3)	OSGEP, FLJ20411, GAMOS3	610107	14q11.2
Galloway-Mowat syndrome 4, 617730 (3)	TP53RK, PRPK, GAMOS4	608679	20q13.12
Galloway-Mowat syndrome 5, 617731 (3)	TPRKB, GAMOS5	608680	2p13.1
Galloway-Mowat syndrome 6, 618347 (3)	WDR4, MIGSB, GAMOS6	605924	21q22.3
Galloway-Mowat syndrome 7, 618348 (3)	NUP107, NUP84, NPHS11, ODG6; GAMOS7	607617	12q15
Galloway-Mowat syndrome 9, 619603 (3)	GON7, C14orf142	617436	14q32.12
Gardner syndrome, 175100 (3)	APC, GS, FPC, BTPS2, DESMD	611731	5q22.2
Gastric adenocarcinoma and proximal polyposis of the stomach, 619182 (3)	APC, GS, FPC, BTPS2, DESMD	611731	5q22.2
Gastric cancer, somatic, 613659 (3)	APC, GS, FPC, BTPS2, DESMD	611731	5q22.2
Gastric cancer, somatic, 613659 (3)	CASP10, MCH4, ALPS2	601762	2q33.1
Gastric cancer, somatic, 613659 (3)	ERBB2, NGL, NEU, HER2, VSCN2	164870	17q12
Gastric cancer, somatic, 613659 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Gastric cancer, somatic, 613659 (3)	IRF1, MAR	147575	5q31.1
Gastric cancer, somatic, 613659 (3)	KLF6, COPEB, BCD1, ZF9	602053	10p15.2
Gastric cancer, somatic, 613659 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	190070	12p12.1
Gastric cancer, somatic, 613659 (3)	MUTYH, MYH	604933	1p34.1
Gastric cancer, somatic, 613659 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
Gastroesophageal reflux (2)	GER	109350	13q14
Gastrointestinal defects and immunodeficiency syndrome 2, 619708 (3)	PI4KA, PIK4CA, PMGYCHA, SPG84, GIDID2	600286	22q11.21
Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)	TTC7A, TTC7, KIAA1140, MINAT, GIDID	609332	2p21
Gastrointestinal stromal tumor, 606764 (3)	SDHB, SDH2, SDHIP, PGL4, MC2DN4	185470	1p36.13
Gastrointestinal stromal tumor, 606764 (3)	SDHC, PGL3	602413	1q23.3
Gastrointestinal stromal tumor, familial, 606764 (3)	KIT, PBT, MASTC	164920	4q12
Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, 175510 (3)	PDGFRA	173490	4q12
Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 (3)	PLA2G4A, PLA2G4, GURDP	600522	1q31.1
Gaucher disease, atypical, 610539 (3)	PSAP, SAP1, PSAPD, PARK24	176801	10q22.1
Gaucher disease, perinatal lethal, 608013 (3)	GBA	606463	1q22
Gaucher disease, type I, 230800 (3)	GBA	606463	1q22
Gaucher disease, type II, 230900 (3)	GBA	606463	1q22
Gaucher disease, type III, 231000 (3)	GBA	606463	1q22
Gaucher disease, type IIIC, 231005 (3)	GBA	606463	1q22
Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)	ROBO3, RBIG1, RIG1, HGPPS1	608630	11q24.2
Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3)	DCC, MRMV1, HGPPS2	120470	18q21.2
Geleophysic dysplasia 1, 231050 (3)	ADAMTSL2, KIAA0605, GPHYSD1	612277	9q34.2
Geleophysic dysplasia 2, 614185 (3)	FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS	134797	15q21.1
Geleophysic dysplasia 3, 617809 (3)	LTBP3, LTBP2, DASS, GPHYSD3	602090	11q13.1
Generalized epilepsy with febrile seizures plus, type 1, 604233 (3)	SCN1B, GEFSP1, BRGDA5, ATFB13, DEE52	600235	19q13.11
Generalized epilepsy with febrile seizures plus, type 10, 618482 (3)	HCN1, BCNG1, DEE24, GEFSP10	602780	5p12
Generalized epilepsy with febrile seizures plus, type 11, 602477 (3)	HCN2, BCNG2, GEFSP11, FEB2, EIG17	602781	19p13.3
Generalized epilepsy with febrile seizures plus, type 2, 604403 (3)	SCN1A, GEFSP2, SMEI, FEB3A, DEE6A, DRVT, FHM3, DEE6B	182389	2q24.3
Generalized epilepsy with febrile seizures plus, type 3, 607681 (3)	GABRG2, DEE74, FEB8, ECA2, GEFSP3	137164	5q34
Generalized epilepsy with febrile seizures plus, type 4 (2)	GEFSP4	609800	2p24
Generalized epilepsy with febrile seizures plus, type 6 (2)	GEFSP6	612279	8p23-p21
Generalized epilepsy with febrile seizures plus, type 7 (2)	GEFSP7, FEB3B	613863	2q23-q24
Generalized epilepsy with febrile seizures plus, type 8 (2)	GEFSP8	613828	6q16.3-q22.31
Generalized epilepsy with febrile seizures plus, type 9, 616172 (3)	STX1B, GEFSP9	601485	16p11.2
Geniospasm (2)	GSM1, GSP	190100	9q13-q21
Genitopatellar syndrome, 606170 (3)	KAT6B, MYST4, MORF, GTPTS	605880	10q22.2
Genitourinary and/or/brain malformation syndrome, 618820 (3)	PPP1R12A, MYPT1, GUBS	602021	12q21.2-q21.31
Germ cell tumors, somatic, 273300 (3)	KIT, PBT, MASTC	164920	4q12
Geroderma osteodysplasticum, 231070 (3)	GORAB, SCYL1BP1, NTKLBP1, GO	607983	1q24.2
Gerstmann-Straussler disease, 137440 (3)	PRNP, PRIP, KURU, CJD	176640	20p13
Ghosal hematodiaphyseal syndrome, 231095 (3)	TBXAS1, GHOSAL, CYP5	274180	7q34
Giant axonal neuropathy-1, 256850 (3)	GAN, GAN1	605379	16q23.2
Giant platelet disorder, isolated, 231200 (3)	GP1BB, BS, BDPLT1	138720	22q11.21
Gigantism due to GHRF hypersecretion (1)	GHRH, GHRF	139190	20q11.23
Gillespie syndrome, 206700 (3)	ITPR1, SCA15, SCA16, SCA29	147265	3p26.1
Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)	ALG9, DIBD1, CDG1L, GIKANIS	606941	11q23.1
Gitelman syndrome, 263800 (3)	SLC12A3, NCCT, TSC	600968	16q13
Glanzmann thrombasthenia 1, 273800 (3)	ITGA2B, GP2B, CD41B, GT1, BDPLT2, BDPLT16	607759	17q21.31
Glanzmann thrombasthenia 2, 619267 (3)	ITGB3, GP3A, GT2, BDPLT24	173470	17q21.32
Glass syndrome, 612313 (3)	SATB2, KIAA1034, GLSS	608148	2q33.1
Glaucoma 1, open angle, 1O, 613100 (3)	NTF4 , NTF5, NT5, NT4, GLC1O	162662	19q13.33
Glaucoma 1, open angle, E, 137760 (3)	OPTN, GLC1E, FIP2, HYPL, NRP, ALS12	602432	10p13
Glaucoma 1, open angle, F, 603383 (3)	ASB10, GLC1F	615054	7q36.1
Glaucoma 1, open angle, G, 609887 (3)	WDR36, TAWDRP, GLC1G	609669	5q22.1
Glaucoma 1, open angle, H (2)	GLC1H	611276	2p16-p15
Glaucoma 1, open angle, I (2)	GLC1I	609745	15q11-q13
Glaucoma 1, open angle, M (2)	GLC1M	610535	5q22.1-q32
Glaucoma 1, open angle, N (2)	GLC1N	611274	15q22-q24
Glaucoma 1, open angle, P (4)	GLC1P	177700	12q14
Glaucoma 1A, primary open angle, 137750 (3)	MYOC, TIGR, GLC1A, JOAG, GPOA	601652	1q24.3
Glaucoma 1B, primary open angle, adult onset (2)	GLC1B	606689	2cen-q13
Glaucoma 1C, primary open angle (2)	GLC1C	601682	3q21-q24
Glaucoma 1D, primary open angle (2)	GLC1D	602429	8q23
Glaucoma 1K, primary open angle, juvenile-onset (2)	GLC1K, JOAG3	608696	20p12
Glaucoma 3, primary congenital, C (2)	GLC3C	613085	14q24.3
Glaucoma 3, primary congenital, D, 613086 (3)	LTBP2, LTBP3, GLC3D, MSPKA, WMS3	602091	14q24.3
Glaucoma 3, primary congenital, E, 617272 (3)	TEK, TIE2, VMCM, GLC3E	600221	9p21.2
Glaucoma 3, primary infantile, B (2)	GLC3B	600975	1p36.2-p36.1
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)	CYP1B1, GLC3A, ASGD6	601771	2p22.2
Glaucoma, primary closed-angle, 618880 (3)	COL18A1, KNO1, GLCC	120328	21q22.3
Glaucoma, primary open angle, juvenile-onset, 2 (2)	JOAG2	608695	9q22
Glioblastoma, somatic, 137800 (3)	ERBB2, NGL, NEU, HER2, VSCN2	164870	17q12
Global developmental delay with or without impaired intellectual development, 618330 (3)	CUX1, CUTL1, CDP, GDDI	116896	7q22.1
Global developmental delay with speech and behavioral abnormalities, 619243 (3)	TNRC6B, KIAA1093, GDSBA	610740	22q13.1
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3)	ZNF148, ZFP148, GDACCF	601897	3q21.2
Global developmental delay, progressive ataxia, and elevated glutamine, 618412 (3)	GLS, GLS1, DEE71, CASGID, GDPAG	138280	2q32.2
Glomerulopathy with fibronectin deposits 1 (2)	GFND1	137950	1q32
Glomerulopathy with fibronectin deposits 2, 601894 (3)	FN1, FN, LETS, FNZ, GFND2, SMDCF	135600	2q35
Glomerulosclerosis, focal segmental, 1, 603278 (3)	ACTN4, FSGS1, FSGS	604638	19q13.2
Glomerulosclerosis, focal segmental, 2, 603965 (3)	TRPC6, TRP6, FSGS2	603652	11q22.1
Glomerulosclerosis, focal segmental, 3, 607832 (3)	CD2AP, CMS	604241	6p12.3
Glomerulosclerosis, focal segmental, 5, 613237 (3)	INF2, FSGS5, C14orf173, CMTDIE	610982	14q32.33
Glomerulosclerosis, focal segmental, 6, 614131 (3)	MYO1E, MYO1C, FSGS6	601479	15q22.2
Glomerulosclerosis, focal segmental, 7, 616002 (3)	PAX2, PAPRS, FSGS7	167409	10q24.31
Glomuvenous malformations, 138000 (3)	GLMN, GVM, VMGLOM	601749	1p22.1
Glucocorticoid deficiency 2, 607398 (3)	MRAP, FALP, C21orf61, GCCD2, FGD2	609196	21q22.11
Glucocorticoid deficiency 3 (2)	GCCD3, FGD3, GCCD2	609197	8q11.2-q13.2
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)	NNT, GCCD4	607878	5p12
Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)	MC2R	607397	18p11.21
Glucocorticoid resistance, 615962 (3)	NR3C1, GCR, GRL, GCRST	138040	5q31.3
Glucose/galactose malabsorption, 606824 (3)	SLC5A1, SGLT1	182380	22q12.3
Glutamate formiminotransferase deficiency, 229100 (3)	FTCD	606806	21q22.3
Glutamine deficiency, congenital, 610015 (3)	GLUL, GLNS	138290	1q25.3
Glutaric acidemia IIA, 231680 (3)	ETFA, GA2, MADD	608053	15q24.2-q24.3
Glutaric acidemia IIB, 231680 (3)	ETFB, MADD	130410	19q13.41
Glutaric acidemia IIC, 231680 (3)	ETFDH, MADD	231675	4q32.1
Glutaric aciduria III, 231690 (3)	C7orf10, GA3	609187	7p14.1
Glutaricaciduria, type I, 231670 (3)	GCDH	608801	19p13.13
Glutathione synthetase deficiency, 266130 (3)	GSS, GSHS	601002	20q11.22
Glycerol kinase deficiency, 307030 (3)	GK	300474	Xp21.2
Glycine N-methyltransferase deficiency, 606664 (3)	GNMT	606628	6p21.1
Glycine encephalopathy with normal serum glycine, 617301 (3)	SLC6A9, GLYT1, GCENSG	601019	1p34.1
Glycine encephalopathy, 605899 (3)	AMT, NKH, GCE	238310	3p21.31
Glycine encephalopathy, 605899 (3)	GLDC, HYGN1, GCSP, GCE, NKH	238300	9p24.1
Glycogen storage disease 0, liver, 240600 (3)	GYS2	138571	12p12.1
Glycogen storage disease 0, muscle, 611556 (3)	GYS1, GYS	138570	19q13.33
Glycogen storage disease II, 232300 (3)	GAA	606800	17q25.3
Glycogen storage disease IIIa, 232400 (3)	AGL, GDE	610860	1p21.2
Glycogen storage disease IIIb, 232400 (3)	AGL, GDE	610860	1p21.2
Glycogen storage disease IV, 232500 (3)	GBE1, GSD4, APBD	607839	3p12.2
Glycogen storage disease IXc, 613027 (3)	PHKG2, GSD9C	172471	16p11.2
Glycogen storage disease Ia, 232200 (3)	G6PC, G6PT	613742	17q21.31
Glycogen storage disease Ib, 232220 (3)	SLC37A4, G6PT1, CDG2W	602671	11q23.3
Glycogen storage disease Ic, 232240 (3)	SLC37A4, G6PT1, CDG2W	602671	11q23.3
Glycogen storage disease VI, 232700 (3)	PYGL	613741	14q22.1
Glycogen storage disease VII, 232800 (3)	PFKM, GSD7	610681	12q13.11
Glycogen storage disease X, 261670 (3)	PGAM2, PGAMM, GSD10	612931	7p13
Glycogen storage disease XI, 612933 (3)	LDHA, LDH1, GSD11	150000	11p15.1
Glycogen storage disease XII, 611881 (3)	ALDOA, GSD12	103850	16p11.2
Glycogen storage disease XIII, 612932 (3)	ENO3, GSD13	131370	17p13.2
Glycogen storage disease of heart, lethal congenital, 261740 (3)	PRKAG2, WPWS, CMH6	602743	7q36.1
Glycogen storage disease, type IXa1, 306000 (3)	PHKA2, PHK, XLG, PYKL, GSD9A	300798	Xp22.13
Glycogen storage disease, type IXa2, 306000 (3)	PHKA2, PHK, XLG, PYKL, GSD9A	300798	Xp22.13
Glycosylphosphatidylinositol biosynthesis defect 11, 616025 (3)	PIGW, HPMRS5	610275	17q12
Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3)	GPAA1, GAA1, GPIBD15	603048	8q24.3
Glycosylphosphatidylinositol biosynthesis defect 16, 617816 (3)	PIGC, GPI2, GPIBD16, MRT62	601730	1q24.3
Glycosylphosphatidylinositol biosynthesis defect 17, 618010 (3)	PIGH	600154	14q24.1
Glycosylphosphatidylinositol deficiency, 610293 (3)	PIGM	610273	1q23.2
Gnathodiaphyseal dysplasia, 166260 (3)	ANO5, TMEM16E, GDD1, LGMDR12	608662	11p14.3
Goeminne TKCR syndrome (2)	TKCR, TKC	314300	Xq28
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, 138800 (3)	DICER1, HERNA, KIAA0928, MNG1, RMSE2, GLOW	606241	14q32.13
Goiter, multinodular, 2 (2)	MNG2	300273	Xp22
Goiter, multinodular, 3 (2)	MNG3	606082	3q26.1-q26.3
Goldberg-Shprintzen megacolon syndrome, 609460 (3)	KIFBP, KIAA1279	609367	10q22.1
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, 618419 (3)	PPP2R3C, G5PR, GDRM, SPGF36	615902	14q13.2
Gout, PRPS-related, 300661 (3)	PRPS1, CMTX5, DFNX1, DFN2	311850	Xq22.3
Gracile bone dysplasia, 602361 (3)	FAM111A, KIAA1895, KCS2, GCLEB	615292	11q12.1
Grange syndrome, 602531 (3)	YY1AP1, YAP, HCCA2, GRNG	607860	1q22
Granulomatosis with polyangiitis (2)	GPA, WG	608710	6p21.3
Gray platelet syndrome, 139090 (3)	NBEAL2, KIAA0540, GPS, BDPLT4	614169	3p21.31
Greenberg skeletal dysplasia, 215140 (3)	LBR, PHA, PHASK	600024	1q42.12
Greig cephalopolysyndactyly syndrome, 175700 (3)	GLI3, PAPA, PAPB	165240	7p14.1
Griscelli syndrome, type 1, 214450 (3)	MYO5A, MYH12, GS1	160777	15q21.2
Griscelli syndrome, type 2, 607624 (3)	RAB27A, RAM, GS2	603868	15q21.3
Griscelli syndrome, type 3, 609227 (3)	MLPH	606526	2q37.3
Growth hormone deficiency with pituitary anomalies, 182230 (3)	HESX1, RPX, CPHD5	601802	3p14.3
Growth hormone deficiency, isolated partial, 615925 (3)	GHSR, GHDP	601898	3q26.31
Growth hormone deficiency, isolated, type IA, 262400 (3)	GH1, GHN, IGHD1A, IGHD1B, IGHD2	139250	17q23.3
Growth hormone deficiency, isolated, type IB, 612781 (3)	GH1, GHN, IGHD1A, IGHD1B, IGHD2	139250	17q23.3
Growth hormone deficiency, isolated, type II, 173100 (3)	GH1, GHN, IGHD1A, IGHD1B, IGHD2	139250	17q23.3
Growth hormone deficiency, isolated, type IV, 618157 (3)	GHRHR, GHRFR, IGHD4	139191	7p14.3
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, 245590 (3)	STAT5B, GHISID2	604260	17q21.2
Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, 618985 (3)	STAT5B, GHISID2	604260	17q21.2
Growth hormone insensitivity, partial, 604271 (3)	GHR, GHIP	600946	5p13.1-p12
Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3)	IGF1	147440	12q23.2
Growth retardation, developmental delay, facial dysmorphism, 612938 (3)	FTO, GDFD, BMIQ14	610966	16q12.2
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 (3)	IARS1, IARS, GRIDHH	600709	9q22.31
Gustavson syndrome (2)	GUST	309555	Xq26
Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)	OAT, GACR	613349	10q26.13
HARP syndrome, 607236 (3)	PANK2, NBIA1, PKAN, HARP	606157	20p13
HDL deficiency, familial, 1, 604091 (3)	ABCA1, ABC1, HPALP1, TGD, HDLCQTL13	600046	9q31.1
HELIX syndrome, 617671 (3)	CLDN10, OSPL, CPETRL3, HELIX	617579	13q32.1
HELLP syndrome, maternal, of pregnancy, 609016 (3)	HADHA, MTPA	600890	2p23.3
HMG-CoA lyase deficiency, 246450 (3)	HMGCL	613898	1p36.11
HMG-CoA synthase-2 deficiency, 605911 (3)	HMGCS2	600234	1p12
HSD10 mitochondrial disease, 300438 (3)	HSD17B10, HADH2, ERAB, MRXS10, HSD10MD	300256	Xp11.22
Hailey-Hailey disease, 169600 (3)	ATP2C1, BCPM, HHD	604384	3q22.1
Haim-Munk syndrome, 245010 (3)	CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD	602365	11q14.2
Hair, curly (2)	HRM2	139450	1q21.3
Hajdu-Cheney syndrome, 102500 (3)	NOTCH2, AGS2, HJCYS	600275	1p12
Hamamy syndrome, 611174 (3)	IRX5, HMMS	606195	16q12.2
Hand-foot-uterus syndrome, 140000 (3)	HOXA13, HOX1J	142959	7p15.2
Hao-Fountain syndrome, 616863 (3)	USP7, HAUSP, HAFOUS	602519	16p13.2
Harderoporphyria, 618892 (3)	CPOX, HARPO	612732	3q11.2
Hardikar syndrome, 301068 (3)	MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX, HDKR	300188	Xq13.1
Harel-Yoon syndrome, 617183 (3)	ATAD3A, HAYOS, PHRINL	612316	1p36.33
Hartnup disorder, 234500 (3)	SLC6A19, HND	608893	5p15.33
Hartsfield syndrome, 615465 (3)	FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL	136350	8p11.23
Hashimoto thyroiditis (2)	HT	140300	8q23-q24
Hawkinsinuria, 140350 (3)	HPD	609695	12q24.31
Hay-Wells syndrome, 106260 (3)	TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8	603273	3q28
Heart and brain malformation syndrome, 616920 (3)	C19orf61, SMG9, HBMS	613176	19q13.31
Heart block, nonprogressive, 113900 (3)	SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2	600163	3p22.2
Heart block, progressive, type IA, 113900 (3)	SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2	600163	3p22.2
Heart-hand syndrome, Slovenian type, 610140 (3)	LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS	150330	1q22
Heimler syndrome 1, 234580 (3)	PEX1, ZWS1, PBD1A, PBD1B, HMLR1	602136	7q21.2
Heimler syndrome 2, 616617 (3)	PEX6, PXAAA1, PAF2, PBD4A, PDB4B, HMLR2	601498	6p21.1
Heinz body anemia, 140700 (3)	HBA2, HBH, ECYT7	141850	16p13.3
Heinz body anemia, 140700 (3)	HBB, ECYT6	141900	11p15.4
Heinz body anemias, alpha-, 140700 (3)	HBA1, HBH, METHBA, ECYT7	141800	16p13.3
Helsmoortel-van der Aa syndrome, 615873 (3)	ADNP, ADNP1, KIAA0784, HVDAS, MRD28	611386	20q13.13
Hemangioblastoma, cerebellar, somatic (3)	VHL	608537	3p25.3
Hemangioma, capillary infantile, somatic, 602089 (3)	FLT4, VEGFR3, PCL, LMPHM1, CHTD7	136352	5q35.3
Hemangioma, capillary infantile, somatic, 602089 (3)	KDR	191306	4q12
Hematuria, benign familial, 141200 (3)	COL4A3, ATS2, ATS3	120070	2q36.3
Hematuria, familial benign, 141200 (3)	COL4A4, ATS2, BFH	120131	2q36.3
Heme oxygenase-1 deficiency, 614034 (3)	HMOX1, HMOX1D	141250	22q12.3
Hemihypertrophy (2)	IH, HHP	235000	11p15
Hemochromatosis, 235200 (3)	HFE, HLA-H, HFE1, MVCD7, TFQTL2	613609	6p22.2
Hemochromatosis, type 2A, 602390 (3)	HJV, HFE2A	608374	1q21.1
Hemochromatosis, type 2B, 613313 (3)	HAMP, LEAP1, HEPC, HFE2B	606464	19q13.12
Hemochromatosis, type 3, 604250 (3)	TFR2, HFE3	604720	7q22.1
Hemochromatosis, type 4, 606069 (3)	SLC40A1, SLC11A3, FPN1, IREG1, HFE4	604653	2q32.2
Hemoglobin H disease, deletional and nondeletional, 613978 (3)	HBA2, HBH, ECYT7	141850	16p13.3
Hemoglobin H disease, nondeletional, 613978 (3)	HBA1, HBH, METHBA, ECYT7	141800	16p13.3
Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)	AK1	103000	9q34.11
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3)	GCLC, GLCLC	606857	6p12.1
Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)	GPX1, GPXD	138320	3p21.31
Hemolytic anemia due to glutathione reductase deficiency, 618660 (3)	GSR, GSRD	138300	8p12
Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3)	GSS, GSHS	601002	20q11.22
Hemolytic anemia due to hexokinase deficiency, 235700 (3)	HK1, HKD, HMSNR, RP79, NEDVIBA	142600	10q22.1
Hemolytic anemia due to phosphofructokinase deficiency (1)	PFKL	171860	21q22.3
Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)	TPI1, TPID	190450	12p13.31
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3)	CD59, MIC11	107271	11p13
Hemolytic anemia, G6PD deficient (favism), 300908 (3)	G6PD, G6PD1	305900	Xq28
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)	GPI	172400	19q13.11
Hemophagocytic lymphohistiocytosis, familial, 1 (2)	FHL1, HPLH1, HLH1	267700	9q21.3-q22
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)	PRF1, HPLH2, FLH2	170280	10q22.1
Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)	UNC13D, MUNC13-4, HPLH3, HLH3, FHL3	608897	17q25.1
Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)	STX11, FHL4, HPLH4, HLH4	605014	6q24.2
Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease, 613101 (3)	STXBP2, UNC18B, FHL5	601717	19p13.2
Hemophilia A, 306700 (3)	F8, F8C, HEMA, THPH13	300841	Xq28
Hemophilia B, 306900 (3)	F9, HEMB, THPH8	300746	Xq27.1
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)	JAM3	606871	11q25
Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)	SERPINA1, PI, AAT	107400	14q32.13
Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)	CP	117700	3q24-q25.1
Hengel-Maroofian-Schols syndrome, 619641 (3)	BCAS3, HEMARS	607470	17q23.2
Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)	CCBE1, KIAA1983, HKLLS1	612753	18q21.32
Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)	FAT4, VMLDS2, HKLLS2	612411	4q28.1
Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3)	ADAMTS3, HKLLS3	605011	4q13.3
Hepatic adenoma, somatic, 142330 (3)	HNF1A, TCF1, MODY3, IDDM20	142410	12q24.31
Hepatic lipase deficiency, 614025 (3)	LIPC, HL, LIPH, HDLCQ12	151670	15q21.3
Hepatic venoocclusive disease with immunodeficiency, 235550 (3)	SP110, IFI41, IFI75, VODI	604457	2q37.1
Hepatoblastoma, somatic, 114550 (3)	APC, GS, FPC, BTPS2, DESMD	611731	5q22.2
Hepatocellular cancer, somatic, 114550 (3)	PDGFRL, PDGRL, PRLTS	604584	8p22
Hepatocellular carcinoma, childhood type, somatic, 114550 (3)	MET, DFNB97, OSFD	164860	7q31.2
Hepatocellular carcinoma, somatic, 114550 (3)	AXIN1, AXIN	603816	16p13.3
Hepatocellular carcinoma, somatic, 114550 (3)	CASP8, MCH5, ALPS2B	601763	2q33.1
Hepatocellular carcinoma, somatic, 114550 (3)	CTNNB1, NEDSDV, EVR7	116806	3p22.1
Hepatocellular carcinoma, somatic, 114550 (3)	IGF2R, MPRI	147280	6q25.3
Hepatocellular carcinoma, somatic, 114550 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
Hepatocellular carcinoma, somatic, 114550 (3)	TP53, P53, LFS1 , BCC7, BMFS5	191170	17p13.1
Hereditary motor and sensory neuropathy V (2)	HMSN5	600361	4q34.3-q35.2
Hereditary motor and sensory neuropathy VIA, 601152 (3)	MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B	608507	1p36.22
Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3)	TFG, HMSNP, SPG57	602498	3q12.2
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3	605427	12q24.11
Hereditary persistence of fetal hemoglobin, 141749 (3)	HBB, ECYT6	141900	11p15.4
Hermansky-Pudlak syndrome 1, 203300 (3)	HPS1	604982	10q24.2
Hermansky-Pudlak syndrome 11, 619172 (3)	BLOC1S5, BLOS5, MUTED, HPS11	607289	6p24.3
Hermansky-Pudlak syndrome 2, 608233 (3)	AP3B1, ADTB3A, HPS2	603401	5q14.1
Hermansky-Pudlak syndrome 3, 614072 (3)	HPS3	606118	3q24
Hermansky-Pudlak syndrome 4, 614073 (3)	HPS4	606682	22q12.1
Hermansky-Pudlak syndrome 5, 614074 (3)	HPS5, RU2, KIAA1017	607521	11p15.1
Hermansky-Pudlak syndrome 6, 614075 (3)	HPS6, RU	607522	10q24.32
Hermansky-Pudlak syndrome 7, 614076 (3)	DTNBP1, HPS7	607145	6p22.3
Hermansky-Pudlak syndrome 8, 614077 (3)	BLOC1S3, BLOS3, HPS8	609762	19q13.32
Hernia, congenital diaphragmatic 1 (2)	DIH1, HCD	142340	15q26.1
Hernia, congenital diaphragmatic 2 (2)	DIH2	222400	8p23.1
Heterotaxy, visceral, 1, X-linked 306955 (3)	ZIC3, HTX1, HTX, VACTERLX	300265	Xq26.3
Heterotaxy, visceral, 10, autosomal, with male infertility, 619607 (3)	CFAP52, WDR16, WDRPUH, HTX10	609804	17p13.1
Heterotaxy, visceral, 11, autosomal, with male infertility, 619608 (3)	CFAP45, CCDC19, NESG1, HTX11	605152	1q23.2
Heterotaxy, visceral, 12, autosomal, 619702 (3)	CIROP, LMLN2, HTX12	619703	14q11.2
Heterotaxy, visceral, 2, autosomal, 605376 (3)	CFC1, CRYPTIC, HTX2	605194	2q21.1
Heterotaxy, visceral, 4, autosomal, 613751 (3)	ACVR2B, ACTRIIB, HTX4	602730	3p22.2
Heterotaxy, visceral, 5, 270100 (3)	NODAL, HTX5	601265	10q22.1
Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)	CFAP53, CCDC11, HTX6	614759	18q21.1
Heterotaxy, visceral, 7, autosomal, 616749 (3)	MMP21, HTX7	608416	10q26.2
Heterotaxy, visceral, 8, autosomal, 617205 (3)	PKD1L1, HTX8	609721	7p12.3
Heterotaxy, visceral, 9, autosomal, with male infertility, 618948 (3)	MNS1, FLJ11222, HTX9	610766	15q21.3
Heterotopia, periventricular, 1, 300049 (3)	FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2	300017	Xq28
Heyn-Sproul-Jackson syndrome, 618724 (3)	DNMT3A, TBRS, HESJAS	602769	2p23.3
Hiatt-Neu-Cooper neurodevelopmental syndrome, 619311 (3)	RALA, HINCONS	179550	7p14.1
High density lipoprotein cholesterol level QTL14 (2)	HDLCQ14, HYLAP	605201	11q23.3
Histiocytoma, angiomatoid fibrous, somatic, 612160 (3)	CREB1	123810	2q33.3
Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)	SLC29A3, ENT3, PHID, HCLAP	612373	10q22.1
Holocarboxylase synthetase deficiency, 253270 (3)	HLCS, HCS	609018	21q22.13
Holoprosencephaly 1 (2)	HPE1	236100	21q22.3
Holoprosencephaly 11, 614226 (3)	CDON, CDO, HPE11	608707	11q24.2
Holoprosencephaly 12, with or without pancreatic agenesis, 618500 (3)	CNOT1, NOT1, HPE12, VIBOS	604917	16q21
Holoprosencephaly 13, X-linked, 301043 (3)	STAG2, SA2, MKMS, HPE13	300826	Xq25
Holoprosencephaly 2, 157170 (3)	SIX3, HPE2	603714	2p21
Holoprosencephaly 3, 142945 (3)	SHH, HPE3, HLP3, SMMCI, MCOPCB5	600725	7q36.3
Holoprosencephaly 4, 142946 (3)	TGIF1, HPE4	602630	18p11.31
Holoprosencephaly 5, 609637 (3)	ZIC2, HPE5	603073	13q32.3
Holoprosencephaly 6 (2)	HPE6	605934	2q37.1-q37.3
Holoprosencephaly 7, 610828 (3)	PTCH1, NBCCS, BCNS, HPE7	601309	9q22.32
Holoprosencephaly 8 (2)	HPE8	609408	14q13
Holoprosencephaly 9, 610829 (3)	GLI2, HPE9, CJS	165230	2q14.2
Holt-Oram syndrome, 142900 (3)	TBX5	601620	12q24.21
Homocysteine plasma level (2)	NNMT	600008	11q23.2
Homocystinuria due to MTHFR deficiency, 236250 (3)	MTHFR	607093	1p36.22
Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)	CBS	613381	21q22.3
Homocystinuria, cblD type, variant 1, 277410 (3)	MMADHC, C2orf25	611935	2q23.2
Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)	MTRR	602568	5p15.31
Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)	MTR, HMAG	156570	1q43
Huntington disease, 143100 (3)	HTT, HD, IT15, LOMARS	613004	4p16.3
Huntington disease-like 1, 603218 (3)	PRNP, PRIP, KURU, CJD	176640	20p13
Huntington disease-like 2, 606438 (3)	JPH3, JP3, HDL2	605268	16q24.2
Huntington disease-like 3 (2)	HDL3, HLN2	604802	4p15.3
Huriez syndrome, 181600 (3)	SMARCAD1, KIAA1122, ETL1, HEL1, ADERM, BASNS, HRZ	612761	4q22.3
Hutchinson-Gilford progeria, 176670 (3)	LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS	150330	1q22
Hyaline fibromatosis syndrome, 228600 (3)	ANTXR2, CMG2, HFS	608041	4q21.21
Hydatidiform mole, recurrent, 1, 231090 (3)	NALP7, NOD12, PYPAF3, HYDM	609661	19q13.42
Hydatidiform mole, recurrent, 2, 614293 (3)	KHDC3L, C6orf221, ECAT1, HYDM2	611687	6q13
Hydatidiform mole, recurrent, 3, 618431 (3)	MEI1, SPATA38, HYDM3	608797	22q13.2
Hydatidiform mole, recurrent, 4, 618432 (3)	C11orf80, HYDM4	616109	11q13.2
Hydranencephaly with abnormal genitalia, 300215 (3)	ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32	300382	Xp21.3
Hydrocephalus due to aqueductal stenosis, 307000 (3)	L1CAM, CAML1, HSAS1, MASA, SPG1	308840	Xq28
Hydrocephalus with Hirschsprung disease, 307000 (3)	L1CAM, CAML1, HSAS1, MASA, SPG1	308840	Xq28
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 (3)	L1CAM, CAML1, HSAS1, MASA, SPG1	308840	Xq28
Hydrocephalus, congenital communicating, 1, 618667 (3)	TRIM71, LIN41, HYDCC1	618570	3p22.3
Hydrocephalus, congenital, 1, 236600 (3)	CCDC88C, HKRP2, DAPLE, KIAA1509, HYC1, SCA40	611204	14q32.11-q32.12
Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)	MPDZ, MUPP1, HYC2	603785	9p23
Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)	WDR81, CAMRQ2, HYC3	614218	17p13.3
Hydrocephalus, normal pressure, 1, 236690 (3)	CFAP43, WDR96, C10orf79, SPGF19, HYDNP1	617558	10q25.1
Hydrolethalus syndrome, 236680 (3)	HYLS1, FLJ32915	610693	11q24.2
Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)	LARS2, PRLTS4, HLASA	604544	3p21.31
Hyper-IgD syndrome, 260920 (3)	MVK, MVLK, POROK3	251170	12q24.11
Hyper-IgE recurrent infection syndrome 3, autosomal recessive, 618282 (3)	ZNF341, HIES3	618269	20q11.22
Hyper-IgE recurrent infection syndrome 4A, autosomal dominant, 619752 (3)	IL6ST, HIES4A, HIES4B, STWS2, IMD94	600694	5q11.2
Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, 618523 (3)	IL6ST, HIES4A, HIES4B, STWS2, IMD94	600694	5q11.2
Hyper-IgE recurrent infection syndrome 5, autosomal recessive, 618944 (3)	IL6R, IL6RQ, IL6QTL, HIES5	147880	1q21.3
Hyper-IgE recurrent infection syndrome, 147060 (3)	STAT3, APRF, HIES, ADMIO1	102582	17q21.2
Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)	DOCK8	611432	9p24.3
Hyperaldosteronism, familial, type II, 605635 (3)	CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT, HALD2	600570	3q27.1
Hyperaldosteronism, familial, type III, 613677 (3)	KCNJ5, GIRK4, KATP1, LQT13	600734	11q24.3
Hyperaldosteronism, familial, type IV, 617027 (3)	CACNA1H, EIG6, ECA6, HALD4	607904	16p13.3
Hyperalphalipoproteinemia, 143470 (3)	CETP, HDLCQ10	118470	16q13
Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3)	CA5A, CA5AD	114761	16q24.2
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)	CYP21A2, CYP21, CA21H	613815	6p21.33
Hyperbilirubinemia, Rotor type, digenic, 237450 (3)	SLCO1B1, LST1, OATP2, OATPC, OATP1B1, HBLRR	604843	12p12.1
Hyperbilirubinemia, Rotor type, digenic, 237450 (3)	SLCO1B3, OATP8, OATP1B3, SLC21A8, HBLRR	605495	12p12.2
Hyperbilirubinemia, familial transient neonatal, 237900 (3)	UGT1A1, UGT1, GNT1, BILIQTL1	191740	2q37.1
Hyperbiliverdinemia, 614156 (3)	BLVRA	109750	7p13
Hypercalcemia, infantile, 1, 143880 (3)	CYP24A1, CYP24, HCINF1	126065	20q13.2
Hypercalcemia, infantile, 2, 616963 (3)	SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2, HCINF2	182309	5q35.3
Hypercalciuria, absorptive (2)	HCA1	607258	4q33-qter
Hyperchlorhidrosis, isolated, 143860 (3)	CA12	603263	15q22.2
Hypercholanemia, familial 1, 607748 (3)	TJP2, ZO2, PFIC4, FHCA1	607709	9q21.11
Hypercholanemia, familial 2, 619256 (3)	SLC10A1, NTCP1, FHCA2	182396	14q24.1
Hypercholesterolemia, familial, 1, 143890 (3)	LDLR, FHCL1, FHC, FH, LDLCQ2	606945	19p13.2
Hypercholesterolemia, familial, 2, 144010 (3)	APOB, FLDB, LDLCQ4, FCHL2	107730	2p24.1
Hypercholesterolemia, familial, 3, 603776 (3)	PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1, FHCL3	607786	1p32.3
Hypercholesterolemia, familial, 4, 603813 (3)	LDLRAP1, ARH, FHCB2, FHCB1, FHCL4	605747	1p36.11
Hyperchylomicronemia, late-onset, 144650 (3)	APOA5	606368	11q23.3
Hyperekplexia 1, 149400 (3)	GLRA1, STHE, HKPX1	138491	5q33.1
Hyperekplexia 2, 614619 (3)	GLRB, HKPX2	138492	4q32.1
Hyperekplexia 3, 614618 (3)	SLC6A5, GLYT2, HKPX3	604159	11p15.1
Hyperekplexia 4, 618011 (3)	ATAD1, THORASE, HKPX4	614452	10q23.31
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)	PDGFRA	173490	4q12
Hyperferritinemia-cataract syndrome, 600886 (3)	FTL, NBIA3, LFTD	134790	19q13.33
Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1)	PLAT, TPA	173370	8p11.21
Hyperglycinemia, lactic acidosis, and seizures, 614462 (3)	LIAS, PDHLD, HGCLAS	607031	4p14
Hyperglycinuria, 138500 (3)	SLC36A2, PAT2	608331	5q33.1
Hyperglycinuria, 138500 (3)	SLC6A19, HND	608893	5p15.33
Hyperglycinuria, 138500 (3)	SLC6A20, XT3	605616	3p21.31
Hyperhidrosis palmaris et plantaris (2)	HHPP	144110	14q11.2-q13
Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)	ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2, PNDM3	600509	11p15.1
Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)	KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13, PNDM2	600937	11p15.1
Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3)	GCK, HHF3, PNDM1	138079	7p13
Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3)	HADHSC, SCHAD, HHF4	601609	4q25
Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)	INSR, HHF5	147670	19p13.2
Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)	SLC16A1, MCT1, HHF7, MCT1D	600682	1p13.2
Hyperinsulinism-hyperammonemia syndrome, 606762 (3)	GLUD1	138130	10q23.2
Hyperkalemic periodic paralysis, type 2, 170500 (3)	SCN4A, HYPP, NAC1A, HOKPP2, CMS16	603967	17q23.3
Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3)	KRIT1, CCM1, CAM	604214	7q21.2
Hyperlipidemia, combined, 2 (2)	HYPLIP2	604499	11p
Hyperlipoproteinemia, type 1D, 615947 (3)	GPIHBP1, HYPL1D	612757	8q24.3
Hyperlipoproteinemia, type III, 617347 (3)	APOE, AD2, LPG, LDLCQ5	107741	19q13.32
Hyperlipoproteinemia, type Ib, 207750 (3)	APOC2	608083	19q13.32
Hyperlysinemia, 238700 (3)	AASS	605113	7q31.32
Hypermanganesemia with dystonia 1, 613280 (3)	SLC30A10, ZNT10, HMNDYT1	611146	1q41
Hypermanganesemia with dystonia 2, 617013 (3)	SLC39A14, ZIP14, KIAA0062, HMNDYT2, HCIN	608736	8p21.3
Hypermethioninemia due to adenosine kinase deficiency, 614300 (3)	ADK	102750	10q22.2
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)	AHCY, SAHH	180960	20q11.22
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)	MAT1A, MATA1, SAMS1	610550	10q22.3
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)	SLC25A15, ORNT1, HHH	603861	13q14.11
Hyperostosis, endosteal, 144750 (3)	LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4	603506	11q13.2
Hyperoxaluria, primary, type 1, 259900 (3)	AGXT, SPAT	604285	2q37.3
Hyperoxaluria, primary, type II, 260000 (3)	GRHPR, GLXR	604296	9p13.2
Hyperoxaluria, primary, type III, 613616 (3)	HOGA1, DHDPSL, HP3	613597	10q24.2
Hyperparathyroidism 3 (2)	HRPT3	610071	2p14-p13.3
Hyperparathyroidism 4, 617343 (3)	GCM2, GCMB, HRPT4, FIH2	603716	6p24.2
Hyperparathyroidism, familial primary, 145000 (3)	CDC73, HRPT2, C1orf28	607393	1q31.2
Hyperparathyroidism, neonatal, 239200 (3)	CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1	601199	3q13.33-q21.1
Hyperparathyroidism, transient neonatal, 618188 (3)	TRPV6, ECAC2, CAT1, CATL, HRPTTN	606680	7q34
Hyperparathyroidism-jaw tumor syndrome, 145001 (3)	CDC73, HRPT2, C1orf28	607393	1q31.2
Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)	PTS	612719	11q23.1
Hyperphenylalaninemia, BH4-deficient, B, 233910 (3)	GCH1, DYT5, HPABH4B	600225	14q22.2
Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)	QDPR, DHPR	612676	4p15.32
Hyperphenylalaninemia, BH4-deficient, D, 264070 (3)	PCBD1, DCOH	126090	10q22.1
Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3)	DNAJC12, JDP1, HPANBH4	606060	10q21.3
Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)	PIGV, HPMRS1	610274	1p36.11
Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)	PIGO, HPMRS2	614730	9p13.3
Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)	PGAP2, FRAG1, HPMRS3, MRT17, MRT21	615187	11p15.4
Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)	PGAP3, PERLD1, CAB2, MGC9753, HPMRS4	611801	17q12
Hyperphosphatasia with mental retardation syndrome 6, 616809 (3)	PIGY, HPMRS6	610662	4q22.1
Hyperpigmentation with or without hypopigmentation, 145250 (3)	KITLG, MGF, SF, SCF, SHEP7, FPHH, DCUA, DFNA69	184745	12q21.32
Hyperpigmentation, familial progressive, 1 (2)	FPH1, MUH, HPP	614233	19pter-p13.1
Hyperproinsulinemia, 616214 (3)	INS, MODY10, IDDM2, PNDM4	176730	11p15.5
Hyperprolactinemia, 615555 (3)	PRLR, MFAB, HPRL	176761	5p13.2
Hyperprolinemia, type I, 239500 (3)	PRODH, PRODH2, SCZD4	606810	22q11.21
Hyperprolinemia, type II, 239510 (3)	ALDH4A1, ALDH4, P5CDH	606811	1p36.13
Hypertelorism, preauricular sinus, punctal pits, and deafness (2)	HPPD	614187	14q31
Hypertension and brachydactyly syndrome, 112410 (3)	PDE3A, HTNB	123805	12p12.2
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)	NR3C2, MLR, MCR	600983	4q31.23
Hypertension, essential, 145500 (3)	PTGIS, CYP8A1, PGIS, CYP8	601699	20q13.13
Hypertensive nephropathy (2)	HNP1	608026	9q31-q32
Hyperthyroidism, familial gestational, 603373 (3)	TSHR, CHNG1	603372	14q31.1
Hyperthyroidism, nonautoimmune, 609152 (3)	TSHR, CHNG1	603372	14q31.1
Hypertrichosis terminalis, generalized, with or without gingival hyperplasia (4)	HTGH, DEL17q24	135400	17q24.2-q24.3
Hypertrichosis, congenital generalized (4)	HTC2, HCG, CGH, CXINSq27.1	307150	Xq27.1
Hypertrichotic osteochondrodysplasia (Cantu syndrome), 239850 (3)	ABCC9, SUR2, CMD1O, ATFB12, CANTU, IDMYS	601439	12p12.1
Hypertriglyceridemia 2, 619324 (3)	CREB3L3, CREBH, HYTG2	611998	19p13.3
Hypertriglyceridemia, transient infantile, 614480 (3)	GPD1, HTGTI	138420	12q13.12
Hypertrophic osteoarthropathy, primary, autosomal dominant, 167100 (3)	SLCO2A1, OATP2A1, PGT, SLC21A2, PHOAR2, PHOAD	601460	3q22.1-q22.2
Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3)	HPGD, PGDH1, PHOAR1	601688	4q34.1
Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)	SLCO2A1, OATP2A1, PGT, SLC21A2, PHOAR2, PHOAD	601460	3q22.1-q22.2
Hyperuricemia, HRPT-related, 300323 (3)	HPRT1, HPRT	308000	Xq26.2-q26.3
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)	SARS2	612804	19q13.2
Hyperuricemic nephropathy, familial juvenile, 3 (2)	HNFJ3	614227	2p22.1-p21
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)	CYP11B2	124080	8q24.3
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)	CYP11B2	124080	8q24.3
Hypoalphalipoproteinemia, primary, 2, 618463 (3)	APOA1, HPALP2	107680	11q23.3
Hypoalphalipoproteinemia, primary, 2, intermediate, 619836 (3)	APOA1, HPALP2	107680	11q23.3
Hypobetalipoproteinemia, 615558 (3)	APOB, FLDB, LDLCQ4, FCHL2	107730	2p24.1
Hypobetalipoproteinemia, familial, 2, 605019 (3)	ANGPTL3, ANGPT5, FHBL2	604774	1p31.3
Hypocalcemia, autosomal dominant 2, 615361 (3)	GNA11, HHC2, HYPOC2	139313	19p13.3
Hypocalcemia, autosomal dominant, 601198 (3)	CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1	601199	3q13.33-q21.1
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)	CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1	601199	3q13.33-q21.1
Hypocalciuric hypercalcemia, type I, 145980 (3)	CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1	601199	3q13.33-q21.1
Hypocalciuric hypercalcemia, type II, 145981 (3)	GNA11, HHC2, HYPOC2	139313	19p13.3
Hypocalciuric hypercalcemia, type III, 600740 (3)	AP2S1, CLAPS2, AP17, HHC3	602242	19q13.32
Hypochondroplasia, 146000 (3)	FGFR3, ACH	134934	4p16.3
Hypodysfibrinogenemia, 616004 (3)	FGG	134850	4q32.1
Hypodysfibrinogenemia, congenital, 616004 (3)	FGA	134820	4q31.3
Hypofibrinogenemia, congenital, 202400 (3)	FGB	134830	4q31.3
Hypofibrinogenemia, congenital, 202400 (3)	FGG	134850	4q32.1
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)	ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2, PNDM3	600509	11p15.1
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)	ANOS1, KAL1, KMS, ADMLX, HH1	300836	Xp22.31
Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3)	TAC3, NKNB, HH10	162330	12q13.3
Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3)	TACR3, NK3R, HH11	162332	4q24
Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)	WDR11, DR11, KIAA1351, BRWD2, HH14	606417	10q26.12
Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3)	SPRY4, HH17	607984	5q31.3
Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)	IL17RD, SEF, HH18	606807	3p14.3
Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3)	DUSP6, MKP3, PYST1, HH19	602748	12q21.33
Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3)	FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL	136350	8p11.23
Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3)	FGF17, HH20	603725	8p21.3
Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)	FLRT3, HH21	604808	20p12.1
Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3)	FEZF1, FEZ, ZNF312B, HH22	613301	7q31.32
Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)	LHB, HH23	152780	19q13.33
Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3)	FSHB, HH24	136530	11p14.1
Hypogonadotropic hypogonadism 25 with anosmia, 618841 (3)	NDNF, C4orf31, NORD, HH25	616506	4q27
Hypogonadotropic hypogonadism 26 with or without anosmia, 619718 (3)	TCF12, HTF4, CRS3, HH26	600480	15q21.3
Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)	PROKR2, PKR2, GPR73L1, HH3	607123	20p12.3
Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3)	PROK2, PK2, BV8, HH4	607002	3p13
Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3)	CHD7, HH5	608892	8q12.2
Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3)	FGF8, HH6	600483	10q24.32
Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3)	GNRHR, LHRHR, HH7	138850	4q13.2
Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)	KISS1R, GPR54, HH8, CPPB1	604161	19p13.3
Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3)	NSMF, NELF, HH9	608137	9q34.3
Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3)	AKT2, HIHGHH	164731	19q13.2
Hypokalemic periodic paralysis, type 1, 170400 (3)	CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1, MHS5	114208	1q32.1
Hypokalemic periodic paralysis, type 2, 613345 (3)	SCN4A, HYPP, NAC1A, HOKPP2, CMS16	603967	17q23.3
Hypokalemic tubulopathy and deafness, 619406 (3)	KCNJ16, KIR5.1, HKTD	605722	17q24.3
Hypomagnesemia 1, intestinal, 602014 (3)	TRPM6, CHAK2, HOMG1	607009	9q21.13
Hypomagnesemia 2, renal, 154020 (3)	FXYD2, ATP1G1, HOMG2	601814	11q23.3
Hypomagnesemia 3, renal, 248250 (3)	CLDN16, PCLN1, HOMG3	603959	3q28
Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)	CLDN19, HOMG5	610036	1p34.2
Hypomagnesemia 6, renal, 613882 (3)	CNNM2, ACDP2, HOMG6, HOMGSMR	607803	10q24.32
Hypomagnesemia, seizures, and mental retardation 2, 618314 (3)	ATP1A1, CMT2DD, HOMGSMR2	182310	1p13.1
Hypomagnesemia, seizures, and mental retardation, 616418 (3)	CNNM2, ACDP2, HOMG6, HOMGSMR	607803	10q24.32
Hypomyelinating neuropathy, congenital, 1, 605253 (3)	EGR2, KROX20, CHN1	129010	10q21.3
Hypomyelinating neuropathy, congenital, 2, 618184 (3)	MPZ, CMT1B, CMTDID, DSS, CHN2	159440	1q23.3
Hypomyelinating neuropathy, congenital, 3, 618186 (3)	CNTNAP1, CASPR, P190, CHN3	602346	17q21.2
Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)	DARS1, DARS, HBSL	603084	2q21.3
Hypoparathyroidism, X-linked (4)	HPT, HPTX, HYPX	307700	Xq27.1
Hypoparathyroidism, familial isolated 1, 146200 (3)	PTH, FIH1	168450	11p15.3
Hypoparathyroidism, familial isolated 2, 618883 (3)	GCM2, GCMB, HRPT4, FIH2	603716	6p24.2
Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3)	GATA3, HDR, HDRS	131320	10p14
Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3)	TBCE, KCS, KCS1, HRD, PEAMO	604934	1q42.3
Hypophosphatasia, adult, 146300 (3)	ALPL, HOPS, TNSALP, HPPA, HPPO, HPPI, HPPC	171760	1p36.12
Hypophosphatasia, childhood, 241510 (3)	ALPL, HOPS, TNSALP, HPPA, HPPO, HPPI, HPPC	171760	1p36.12
Hypophosphatasia, infantile, 241500 (3)	ALPL, HOPS, TNSALP, HPPA, HPPO, HPPI, HPPC	171760	1p36.12
Hypophosphatemic rickets and hyperparathyroidism (2)	HPRHP	612089	13q13.1
Hypophosphatemic rickets with hypercalciuria, 241530 (3)	SLC34A3, NPTIIC, HHRH	609826	9q34.3
Hypophosphatemic rickets, 300554 (3)	CLCN5, CLCK2, NPHL2, DENT1, NPHL1	300008	Xp11.23
Hypophosphatemic rickets, AR, 241520 (3)	DMP1, ARHR, ARHP	600980	4q22.1
Hypophosphatemic rickets, X-linked dominant, 307800 (3)	PHEX, HYP, HPDR1, LXHR	300550	Xp22.11
Hypophosphatemic rickets, autosomal dominant, 193100 (3)	FGF23, ADHR, HPDR2, PHPTC, HFTC2	605380	12p13.32
Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)	ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED	173335	6q23.2
Hypopigmentation, organomegaly, and delayed myelination and development, 618541 (3)	CLCN7, CLC7, OPTA2, OPTB4, HOD	602727	16p13.3
Hypoplastic femurs and pelvis (4)	HYPOFP	619545	10q24
Hypoplastic left heart syndrome 1, 241550 (3)	GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP3	121014	6q22.31
Hypoplastic left heart syndrome 2, 614435 (3)	NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2	600584	5q35.1
Hypoplastic or aplastic tibia with polydactyly, 188740 (3)	LMBR1, ACHP, C7orf2, PPD2, THYP, LSS	605522	7q36.3
Hypoprothrombinemia, 613679 (3)	F2, THPH1, RPRGL2	176930	11p11.2
Hypospadias 1, X-linked, 300633 (3)	AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1	313700	Xq12
Hypospadias 2, X-linked, 300758 (3)	MAMLD1, CXorf6, F18, HYSP2	300120	Xq28
Hypospadias 3, autosomal (2)	HYSP3	146450	7q32.2-q36.1
Hypotaurinemic retinal degeneration and cardiomyopathy, 145350 (3)	SLC6A6, TAUT, HTRDC	186854	3p25.1
Hypothyroidism, central, and testicular enlargement, 300888 (3)	IGSF1, IGDC1, CHTE	300137	Xq26.1
Hypothyroidism, congenital nongoitrous, 5, 225250 (3)	NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2	600584	5q35.1
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3)	PAX8	167415	2q14.1
Hypothyroidism, congenital, nongoitrous 4, 275100 (3)	TSHB, CHNG4	188540	1p13.2
Hypothyroidism, congenital, nongoitrous, 1 275200 (3)	TSHR, CHNG1	603372	14q31.1
Hypothyroidism, congenital, nongoitrous, 3 (2)	CHNG3, RTSH	609893	15q25.3-q26.1
Hypothyroidism, congenital, nongoitrous, 6, 614450 (3)	THRA, ERBA1, THRA1, CHNG6	190120	17q21.1
Hypothyroidism, congenital, nongoitrous, 7, 618573 (3)	TRHR, CHNG7	188545	8q23.1
Hypothyroidism, congenital, nongoitrous, 8, 301033 (3)	TBL1X, TBL1, CHNG8	300196	Xp22.31-p22.2
Hypothyroidism, congenital, nongoitrous, 9, 301035 (3)	IRS4, CHNG9	300904	Xq22.3
Hypotonia, ataxia, and delayed development syndrome, 617330 (3)	EBF3, COE3, HADDS	607407	10q26.3
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3)	CTBP1, HADDTS	602618	4p16.3
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 (3)	P4HTM, PH4, HIDEA	614584	3p21.31
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3)	NALCN, IHPRF1, CLIFAHDD	611549	13q32.3-q33.1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3)	UNC80, C2orf21, KIAA1843	612636	2q34
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)	TBCK, IHPRF3	616899	4q24
Hypotonia, infantile, with psychomotor retardation, 616816 (3)	CCDC174, HSPC212, IHPM	616735	3p25.1
Hypotonia-cystinuria syndrome (4)	DEL2p21, C2DELp21	606407	2p21
Hypotrichosis 1, 605389 (3)	APCDD1, HHS, HYPT1, HTS	607479	18p11.22
Hypotrichosis 10 (2)	HYPT10	614238	7p22.3-p21.3
Hypotrichosis 11, 615059 (3)	SNRPE, HYPT11	128260	1q32.1
Hypotrichosis 12, 615885 (3)	RPL21, HYPT12	603636	13q12.2
Hypotrichosis 14, 618275 (3)	LSS, OSC, CTRCT44, HYPT14, APMR4	600909	21q22.3
Hypotrichosis 2, 146520 (3)	CDSN, HTSS1, HYPT2, PSS1	602593	6p21.33
Hypotrichosis 4, 146550 (3)	HRURF, U2HR	619257	8p21.3
Hypotrichosis 5 (2)	HYPT5, MUHH2	612841	1p21.1-q21.3
Hypotrichosis 6, 607903 (3)	DSG4, LAH, HYPT6	607892	18q12.1
Hypotrichosis 7, 604379 (3)	LIPH, LAH2, ARWH2, HYPT7	607365	3q27.2
Hypotrichosis 8, 278150 (3)	LPAR6, P2RY5, P2Y5, LAH3, ARWH1, HYPT8	609239	13q14.2
Hypotrichosis 9 (2)	HYPT9	614237	10q11.23-q22.3
Hypotrichosis and recurrent skin vesicles, 613102 (3)	DSC3, DSC4	600271	18q12.1
Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)	CDH3, CDHP, PCAD, HJMD	114021	16q22.1
Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3)	SOX18, HLTS, HLTRS	601618	20q13.33
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3)	SOX18, HLTS, HLTRS	601618	20q13.33
Hypouricemia, renal, 2, 612076 (3)	SLC2A9, GLUT9, UAQTL2	606142	4p16.1
Hypouricemia, renal, 220150 (3)	SLC22A12, OAT4L, URAT1	607096	11q13.1
Hystrix-like ichthyosis with deafness, 602540 (3)	GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID, BAPS	121011	13q12.11
IFAP syndrome with or without BRESHECK syndrome, 308205 (3)	MBTPS2, S2P, IFAP, KFSDX, OLMSX, OI19	300294	Xp22.12
IMAGE syndrome, 614732 (3)	CDKN1C, KIP2, BWS, IMAGE	600856	11p15.4
IMAGE-I syndrome, 618336 (3)	POLE, CRCS12, FILS, IMAGEI	174762	12q24.33
Ichthyosis bullosa of Siemens, 146800 (3)	KRT2, KRT2A, KRT2E	600194	12q13.13
Ichthyosis histrix, Curth-Macklin type, 146590 (3)	KRT1, EPPK, NEPPK, EHK	139350	12q13.13
Ichthyosis prematurity syndrome, 608649 (3)	SLC27A4, FATP4, IPS	604194	9q34.11
Ichthyosis vulgaris, 146700 (3)	FLG, ATOD2	135940	1q21.3
Ichthyosis with confetti, 609165 (3)	KRT10, EHK, BCIE, BIE	148080	17q21.2
Ichthyosis, X-linked, 308100 (3)	STS, ARSC1, ARSC, SSDD, XLI	300747	Xp22.31
Ichthyosis, congenital, autosomal recessive 1, 242300 (3)	TGM1, ICR2, ARCI1	190195	14q12
Ichthyosis, congenital, autosomal recessive 10, 615024 (3)	PNPLA1, ARCI10	612121	6p21.31
Ichthyosis, congenital, autosomal recessive 11, 602400 (3)	ST14, MTSP1, ARCI11	606797	11q24.3
Ichthyosis, congenital, autosomal recessive 12, 617320 (3)	CASP14, ARCI12	605848	19p13.12
Ichthyosis, congenital, autosomal recessive 13, 617574 (3)	SDR9C7, SDRO, ARCI13	609769	12q13.3
Ichthyosis, congenital, autosomal recessive 14, 617571 (3)	SULT2B1, ARCI14	604125	19q13.33
Ichthyosis, congenital, autosomal recessive 2, 242100 (3)	ALOX12B, ARCI2	603741	17p13.1
Ichthyosis, congenital, autosomal recessive 3, 606545 (3)	ALOXE3, ARCI3	607206	17p13.1
Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)	ABCA12, ARCI4A, ARCI4B, ICR2B, LI2	607800	2q35
Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3)	ABCA12, ARCI4A, ARCI4B, ICR2B, LI2	607800	2q35
Ichthyosis, congenital, autosomal recessive 5, 604777 (3)	CYP4F22, ARCI5, LI3	611495	19p13.12
Ichthyosis, congenital, autosomal recessive 6, 612281 (3)	NIPAL4, ICHYN, ARCI6	609383	5q33.3
Ichthyosis, congenital, autosomal recessive 7 (2)	ARCI7	615022	12p11.2-q13.1
Ichthyosis, congenital, autosomal recessive 8, 613943 (3)	LIPN, LIPL4, ARCI8, LI4	613924	10q23.31
Ichthyosis, congenital, autosomal recessive 9, 615023 (3)	CERS3, LASS3, ARCI9	615276	15q26.3
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)	KRT1, EPPK, NEPPK, EHK	139350	12q13.13
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)	KRT10, EHK, BCIE, BIE	148080	17q21.2
Ichthyosis, follicular, with atrichia and photophobia syndrome 2, 619016 (3)	SREBF1, IFAP2, HMD	184756	17p11.2
Ichthyosis, lamellar, autosomal dominant, 146750 (3)	ASPRV1, SASP, TAPS, MUNO, ADLI	611765	2p13.3
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)	CLDN1, SEMP1, ILVASC	603718	3q28
Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3)	ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34	605512	6q14.1
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 (3)	ELOVL1, SSC1, IKSHD	611813	1p34.2
IgG2 deficiency, selective (3)	IGHG2	147110	14q32.33
Imagawa-Matsumoto syndrome, 618786 (3)	SUZ12, JJAZ1, KIAA0160, IMMAS	606245	17q11.2
Imerslund-Grasbeck syndrome 1, 261100 (3)	CUBN, IFCR, IGS1	602997	10p13
Imerslund-Grasbeck syndrome 2, 618882 (3)	AMN, IGS2	605799	14q32.32
Iminoglycinuria, digenic, 242600 (3)	SLC36A2, PAT2	608331	5q33.1
Iminoglycinuria, digenic, 242600 (3)	SLC6A19, HND	608893	5p15.33
Iminoglycinuria, digenic, 242600 (3)	SLC6A20, XT3	605616	3p21.31
Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, 616100 (3)	CTLA4, IDDM12, CELIAC3, ALPS5	123890	2q33.2
Immunodeficiency 10, 612783 (3)	STIM1, TAM1, IMD10, STRMK	605921	11p15.4
Immunodeficiency 11A, 615206 (3)	CARD11, CARMA1, BIMP3, PPBL, BENTA, IMD11A	607210	7p22.2
Immunodeficiency 11B with atopic dermatitis, 617638 (3)	CARD11, CARMA1, BIMP3, PPBL, BENTA, IMD11A	607210	7p22.2
Immunodeficiency 12, 615468 (3)	MALT1, MLT, IMD12	604860	18q21.32
Immunodeficiency 14A, autosomal dominant, 615513 (3)	PIK3CD, APDS, IMD14A, IMD14B, ROCHIS	602839	1p36.22
Immunodeficiency 14B, autosomal recessive, 619281 (3)	PIK3CD, APDS, IMD14A, IMD14B, ROCHIS	602839	1p36.22
Immunodeficiency 15A, 618204 (3)	IKBKB, NFKBIKB, IMD15B, IMD15A	603258	8p11.21
Immunodeficiency 15B, 615592 (3)	IKBKB, NFKBIKB, IMD15B, IMD15A	603258	8p11.21
Immunodeficiency 17, CD3 gamma deficient, 615607 (3)	CD3G, IMD17	186740	11q23.3
Immunodeficiency 18, 615615 (3)	CD3E, IMD18	186830	11q23.3
Immunodeficiency 18, SCID variant, 615615 (3)	CD3E, IMD18	186830	11q23.3
Immunodeficiency 19, 615617 (3)	CD3D, T3D, IMD19	186790	11q23.3
Immunodeficiency 20, 615707 (3)	FCGR3A, CD16, IGFR3, IMD20	146740	1q23.3
Immunodeficiency 21, 614172 (3)	GATA2, DCML, MONOMAC, IMD21	137295	3q21.3
Immunodeficiency 23, 615816 (3)	PGM3, AGM1, IMD23	172100	6q14.1
Immunodeficiency 24, 615897 (3)	CTPS1, CTPS, IMD24	123860	1p34.2
Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)	PRKDC, HYRC1, DNPK1, IMD26	600899	8q11.21
Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)	IFNGR1, IMD27A, IMD27B	107470	6q23.3
Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3)	IFNGR1, IMD27A, IMD27B	107470	6q23.3
Immunodeficiency 28, mycobacteriosis, 614889 (3)	IFNGR2, IFNGT1, IFGR2, IMD28	147569	21q22.11
Immunodeficiency 29, mycobacteriosis, 614890 (3)	IL12B, NKSF2, IMD29	161561	5q33.3
Immunodeficiency 30, 614891 (3)	IL12RB1, IMD30	601604	19p13.11
Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3)	STAT1, CANDF7, IMD31A, IMD31B, IMD31C	600555	2q32.2
Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)	STAT1, CANDF7, IMD31A, IMD31B, IMD31C	600555	2q32.2
Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, 614162 (3)	STAT1, CANDF7, IMD31A, IMD31B, IMD31C	600555	2q32.2
Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3)	IRF8, ICSBP1, IMD32A, IMD32B	601565	16q24.1
Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990 (3)	IRF8, ICSBP1, IMD32A, IMD32B	601565	16q24.1
Immunodeficiency 33, 300636 (3)	IKBKG, NEMO, FIP3, IP, EDAID1, IMD33	300248	Xq28
Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3)	CYBB, CGDX, AMCBX2, IMD34	300481	Xp21.1-p11.4
Immunodeficiency 35, 611521 (3)	TYK2, IMD35	176941	19p13.2
Immunodeficiency 36, 616005 (3)	PIK3R1, GRB1, AGM7, SHORT, IMD36	171833	5q13.1
Immunodeficiency 38, 616126 (3)	ISG15, G1P2, IFI15, IMD38	147571	1p36.33
Immunodeficiency 40, 616433 (3)	DOCK2, IMD40	603122	5q35.1
Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3)	IL2RA, CD25, IL2R, IDDM10, IMD41	147730	10p15.1
Immunodeficiency 42, 616622 (3)	RORC, RORG, RZRG, IMD42	602943	1q21.3
Immunodeficiency 43, 241600 (3)	B2M, IMD43	109700	15q21.1
Immunodeficiency 44, 616636 (3)	STAT2, IMD44, PTORCH3	600556	12q13.3
Immunodeficiency 46, 616740 (3)	TFRC, TFR, CD71, IMD46	190010	3q29
Immunodeficiency 47, 300972 (3)	ATP6AP1, ATP6IP1, ATP6S1, VATPS1	300197	Xq28
Immunodeficiency 48, 269840 (3)	ZAP70, SRK, ADMIO2, IMD48	176947	2q11.2
Immunodeficiency 49, 617237 (3)	BCL11B, CTIP2, IMD49, IDDFSTA	606558	14q32.2
Immunodeficiency 50, 300988 (3)	MSN, IMD50	309845	Xq12
Immunodeficiency 51, 613953 (3)	IL17RA, IL17R, IMD51	605461	22q11.1
Immunodeficiency 52, 617514 (3)	LAT, IMD52	602354	16p11.2
Immunodeficiency 54, 609981 (3)	MCM4, NKGCD, NKCD, IMD54	602638	8q11.21
Immunodeficiency 55, 617827 (3)	GINS1, PSF1, KIAA0186, IMD55	610608	20p11.21
Immunodeficiency 56, 615207 (3)	IL21R, IMD56	605383	16p12.1
Immunodeficiency 57 with autoinflammation, 618108 (3)	RIPK1, RIP1, RIP, IMD57, AIEFL	603453	6p25.2
Immunodeficiency 58, 618131 (3)	CARMIL2, RLTPR, IMD58	610859	16q22.1
Immunodeficiency 60 and autoimmunity, 618394 (3)	BACH2, IMD60	605394	6q15
Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495 (3)	IL2RB, IMD63	146710	22q12.3
Immunodeficiency 64, 618534 (3)	RASGRP1, IMD64	603962	15q14
Immunodeficiency 65, susceptibility to viral infections, 618648 (3)	IRF9, ISGF3, ISGF3G	147574	14q12
Immunodeficiency 67, 607676 (3)	IRAK4, REN64, IPD1, IMD67	606883	12q12
Immunodeficiency 68, 612260 (3)	MYD88, MYD88D, IMD68	602170	3p22.2
Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)	TRAC, TRCA, TRA, IMD7	186880	14q11.2
Immunodeficiency 70, 618969 (3)	IVNS1ABP, NS1BP, ND1, IMD70	609209	1q25.3
Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, 617718 (3)	ARPC1B, ARC41, IMD71	604223	7q22.1
Immunodeficiency 72 with autoinflammation, 618982 (3)	NCKAP1L, HEM1, IMD72	141180	12q13.13-q13.2
Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis, 608203 (3)	RAC2, IMD73A, IMD73B, IMD73C	602049	22q13.1
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia, 618986 (3)	RAC2, IMD73A, IMD73B, IMD73C	602049	22q13.1
Immunodeficiency 74, COVID19-related, X-linked, 301051 (3)	TLR7, IMD74	300365	Xp22.2
Immunodeficiency 75, 619126 (3)	TET2, KIAA1546, MDS, IMD75	612839	4q24
Immunodeficiency 76, 619164 (3)	FCHO1, IMD76	613437	19p13.11
Immunodeficiency 77, 619223 (3)	MPEG1, MPG1, IMD77	610390	11q12.1
Immunodeficiency 78 with autoimmunity and developmental delay, 619220 (3)	TPP2, IMD78	190470	13q33.1
Immunodeficiency 79, 619238 (3)	CD4, OKT4D, IMD79	186940	12p13.31
Immunodeficiency 8, 615401 (3)	CORO1A, TACO, CLIPINA, IMD8	605000	16p11.2
Immunodeficiency 80 with or without cardiomyopathy, 619313 (3)	MCM10, CNA43, IMD80	609357	10p13
Immunodeficiency 82 with systemic inflammation, 619381 (3)	SYK, IMD82	600085	9q22.2
Immunodeficiency 86, mycobacteriosis, 619549 (3)	SPPL2A, IMP3, IMD86	608238	15q21.2
Immunodeficiency 87 and autoimmunity, 619573 (3)	DEF6, IBP, SLAT, IMD87	610094	6p21.31
Immunodeficiency 9, 612782 (3)	ORAI1, TMEM142A, CRACM1, IMD9, TAM2	610277	12q24.31
Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction, 613759 (3)	FADD, IMD90	602457	11q13.3
Immunodeficiency 91 and hyperinflammation, 619644 (3)	ZNFX1, IMD91	618931	20q13.13
Immunodeficiency 92, 619652 (3)	REL, IMD92	164910	2p16.1
Immunodeficiency 93 and hypertrophic cardiomyopathy, 619705 (3)	FNIP1, KIAA1961, IMD93	610594	5q31.1
Immunodeficiency 95, 619773 (3)	IFIH1, MDA5, AGS7, SGMRT1, IMD95	606951	2q24.2
Immunodeficiency 96, 619774 (3)	LIG1, IMD96	126391	19q13.33
Immunodeficiency 97 with autoinflammation, 619802 (3)	PIK3CG, IMD97	601232	7q22.3
Immunodeficiency 98 with autoinflammation, X-linked, 301078 (3)	TLR8, IMD98	300366	Xp22.2
Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3)	LAMTOR2, MAPBPIP, p14,	610389	1q22
Immunodeficiency due to ficolin 3 deficiency, 613860 (3)	FCN3, HAKA1	604973	1p36.11
Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)	PNP, NP	164050	14q11.2
Immunodeficiency with hyper IgM, type 5, 608106 (3)	UNG, DGU, HIGM5	191525	12q24.11
Immunodeficiency with hyper-IgM, type 2, 605258 (3)	AICDA, AID, HIGM2	605257	12p13.31
Immunodeficiency with hyper-IgM, type 3, 606843 (3)	CD40, TNFRSF5	109535	20q13.12
Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)	TNFSF5, CD40LG, HIGM1, IGM	300386	Xq26.3
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3)	MAGT1, IAP, XMEN, CDG1CC	300715	Xq21.1
Immunodeficiency, common variable, 1, 607594 (3)	ICOS, AILIM, CVID1	604558	2q33.2
Immunodeficiency, common variable, 10, 615577 (3)	NFKB2, LYT10, CVID10	164012	10q24.32
Immunodeficiency, common variable, 12, 616576 (3)	NFKB1, CVID12	164011	4q24
Immunodeficiency, common variable, 13, 616873 (3)	IKZF1, ZNFN1A1, IK1, LYF1, CVID13	603023	7p12.2
Immunodeficiency, common variable, 2, 240500 (3)	TNFRSF13B, TACI, CVID2	604907	17p11.2
Immunodeficiency, common variable, 3, 613493 (3)	CD19, CVID3	107265	16p11.2
Immunodeficiency, common variable, 4, 613494 (3)	TNFRSF13C, BAFFR, CVID4	606269	22q13.2
Immunodeficiency, common variable, 6, 613496 (3)	CD81, TAPA1, CVID6	186845	11p15.5
Immunodeficiency, common variable, 7, 614699 (3)	CR2, C3DR, SLEB9, CVID7	120650	1q32.2
Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)	LRBA, LBA, CDC4L, CVID8	606453	4q31.3
Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 (3)	NFE2L2, NRF2, IMDDHH	600492	2q31.2
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)	DNMT3B, ICF1, FSHD4	602900	20q11.21
Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 (3)	ZBTB24, PATZ2, ZNF450, KIAA0441, ICF2	614064	6q21
Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 (3)	CDCA7, JPO1, ICF3	609937	2q31.1
Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3)	HELLS, LSH, ICF4	603946	10q23.33
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)	FOXP3, IPEX, AIID, XPID, PIDX	300292	Xp11.23
Immunoglobulin A deficiency (2)	IGAD1	137100	6p21.3
Immunoglobulin A deficiency 2, 609529 (3)	TNFRSF13B, TACI, CVID2	604907	17p11.2
Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3)	EXTL3, EXTR1, ISDNA	605744	8p21.1
Impaired intellectual development and distinctive facial features with or without cardiac defects, 616789 (3)	MED13L, THRAP2, PROSIT240, TRAP240L, KIAA1025, MRFACD	608771	12q24.21
Inclusion body myopathy and brain white matter abnormalities, 619733 (3)	ANXA11, ANX11, ALS23, IBMWMA	602572	10q22.3
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)	VCP, IBMPFD1, CMT2Y, FTDALS6	601023	9p13.3
Incontinentia pigmenti, 308300 (3)	IKBKG, NEMO, FIP3, IP, EDAID1, IMD33	300248	Xq28
Increased responsiveness to growth hormone, 604271 (3)	GHR, GHIP	600946	5p13.1-p12
Infantile cerebellar-retinal degeneration, 614559 (3)	ACO2, ICRD, OPA9	100850	22q13.2
Infantile liver failure syndrome 2, 616483 (3)	NBAS, NAG, SOPH, ILFS2	608025	2p24.3
Infantile liver failure syndrome 3, 618641 (3)	RINT1, ILFS3	610089	7q22.3
Infantile neuroaxonal dystrophy 1, 256600 (3)	PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14	603604	22q13.1
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, 619418 (3)	YARS1, YARS, CMTDIC, TYRRS, YTS, YRS, IMNEPD2	603623	1p35.1
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3)	PTRH2, BIT1, IMNEPD	608625	17q23.1
Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3)	IL10RB, CRFB4, IBD25	123889	21q22.11
Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)	IL10RA, IL10R, IBD28	146933	11q23.3
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)	TGFB1, DPD1, CED, IBDIMDE	190180	19q13.2
Insensitivity to pain, congenital, 243000 (3)	SCN9A, NENA, PN1, SFNP, HSAN2D	603415	2q24.3
Insensitivity to pain, congenital, with anhidrosis, 256800 (3)	NTRK1, TRKA	191315	1q23.1
Insomnia, fatal familial, 600072 (3)	PRNP, PRIP, KURU, CJD	176640	20p13
Insulin resistance, severe, digenic, 125853 (3)	PPP1R3A, PPP1R3	600917	7q31.1
Insulin resistance, severe, digenic, 604367 (3)	PPARG, PPARG1, PPARG2, CIMT1, GLM1	601487	3p25.2
Insulin-like growth factor I, resistance to, 270450 (3)	IGF1R	147370	15q26.3
Insulinoma (1)	ITS	606960	22q12.1-q12.2
Insulinomatosis and diabetes mellitus, 147630 (3)	MAFA, RIPE3B1, INSDM	610303	8q24.3
Intellectual developmental disorder 60 with seizures, 618587 (3)	AP2M1, CLAPM1, MRD60	601024	3q27.1
Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)	CASK, MICPCH, FGS4, CMG, MRXSNA	300172	Xp11.4
Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)	SCAPER, KIAA1454, IDDRP	611611	15q24.3
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 (3)	PUS7, KIAA1897, IDDABS	616261	7q22.3
Intellectual developmental disorder with autism and speech delay, 606053 (3)	TBR1, IDDAS	604616	2q24.2
Intellectual developmental disorder with autistic features and language delay, with or without seizures, 618906 (3)	TANC2, KIAA1636, IDDALDS	615047	17q23.2-q23.3
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, 618725 (3)	PHF21A, BHC80, KIAA1696, IDDBCS	608325	11p11.2
Intellectual developmental disorder with cardiac arrhythmia, 617173 (3)	GNB5, GB5, IDDCA, LADCI	604447	15q21.2
Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 (3)	TMEM94, KIAA0195, IDDCDF	618163	17q25.1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089 (3)	FBXO11, FBX11, VIT1, PRMT9, IDDFBA	607871	2p16.3
Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3)	BRPF1, BR140, IDDDFP	602410	3p25.3
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3)	OTUD6B, DUBA5, IDDFSDA	612021	8q21.3
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 (3)	BCL11B, CTIP2, IMD49, IDDFSTA	606558	14q32.2
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies, 619031 (3)	ALG14, CMS15, IDDEBF, MEPCA	612866	1p21.3
Intellectual developmental disorder with hypotonia and behavioral abnormalities, 618748 (3)	CDK8, IDDHBA	603184	13q12.13
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, 619556 (3)	TNPO2, TRN2, KPNB2B, IDDHISD	603002	19p13.13
Intellectual developmental disorder with impaired language and dysmorphic facies, 618653 (3)	DDX6, HLR2, IDDILF	600326	11q23.3
Intellectual developmental disorder with language impairment with or without autistic features, 613670 (3)	FOXP1, QRF1	605515	3p13
Intellectual developmental disorder with macrocephaly, seizures, and speech delay, 618158 (3)	PAK1, IDDMSSD	602590	11q13.5-q14.1
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 (3)	CNOT2, NOT2, IDNADFS	604909	12q15
Intellectual developmental disorder with neuropsychiatric features, 617532 (3)	SLC45A1, DNB5, IDDNPF	605763	1p36.23
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3)	RORA, IDDECA	600825	15q22.2
Intellectual developmental disorder with or without peripheral neuropathy, 619844 (3)	NUDT2, APAH1, IDDPN	602852	9p13.3
Intellectual developmental disorder with paroxysmal dyskinesia or seizures, 619150 (3)	PDE2A, IDDPADS	602658	11q13.4
Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 (3)	ABCA2, ABC2, IDPOGSA	600047	9q34.3
Intellectual developmental disorder with seizures and language delay, 619000 (3)	SETD1B, SET1B, KIAA1076, IDDSELD	611055	12q24.31
Intellectual developmental disorder with severe speech and ambulation defects, 618470 (3)	ACTL6B, BAF53B, IDDSSAD, DEE76	612458	7q22.1
Intellectual developmental disorder with short stature and behavioral abnormalities, 618687 (3)	IQSEC1, KIAA0763, IDDSSBA	610166	3p25.2-p25.1
Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 (3)	FBXL3, FBXL3A, FBL3, IDDSFAS	605653	13q22.3
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, 619099 (3)	NEMF, SDCCAG1, IDDSAPN	608378	14q21.3
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672 (3)	CNOT3, NOT3, IDDSADF	604910	19q13.42
Intellectual developmental disorder, X-linked 1, 309530 (3)	IQSEC2, KIAA0522, MRX1, MRX78, XLID1	300522	Xp11.22
Intellectual developmental disorder, X-linked 103, 300982 (3)	KLHL15, KIAA1677, XLID103	300980	Xp22.11
Intellectual developmental disorder, X-linked 104, 300983 (3)	FRMPD4, PRESO, KIAA0316, XLID104	300838	Xp22.2
Intellectual developmental disorder, X-linked 105, 300984 (3)	USP27X, USP22L, XLID105	300975	Xp11.23
Intellectual developmental disorder, X-linked 106, 300997 (3)	OGT, XLID106	300255	Xq13.1
Intellectual developmental disorder, X-linked 108, 301024 (3)	SLC9A7, NHE7, MRX108	300368	Xp11.3
Intellectual developmental disorder, X-linked 109, 309548 (3)	AFF2, FMR2, FRAXE, XLID109	300806	Xq28
Intellectual developmental disorder, X-linked 12, 300957 (3)	THOC2, THO2, XLID12	300395	Xq25
Intellectual developmental disorder, X-linked 14 (2)	XLID14, MRX14	300062	Xp11.3-q13.3
Intellectual developmental disorder, X-linked 19, 300844 (3)	RPS6KA3, RSK2, XLID19	300075	Xp22.12
Intellectual developmental disorder, X-linked 2 (2)	XLID2, MRX2	300428	Xp22.3
Intellectual developmental disorder, X-linked 20 (2)	XLID20, MRX20	300047	Xp11-q21
Intellectual developmental disorder, X-linked 21, 300143 (3)	IL1RAPL1, IL1R8, MRX21, MRX34	300206	Xp21.3-p21.2
Intellectual developmental disorder, X-linked 23 (2)	XLID23, MRX23	300046	Xq23-q24
Intellectual developmental disorder, X-linked 29, 300419 (3)	ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32	300382	Xp21.3
Intellectual developmental disorder, X-linked 30, 300558 (3)	PAK3, MRX30, MRX47, XLID30	300142	Xq23
Intellectual developmental disorder, X-linked 41, 300849 (3)	GDI1, RABGD1A, MRX41, MRX48, XLID41	300104	Xq28
Intellectual developmental disorder, X-linked 42 (2)	XLID42, MRX42	300372	Xq26
Intellectual developmental disorder, X-linked 45 (2)	XLID45, MRX45	300498	Xp11.3-p11.21
Intellectual developmental disorder, X-linked 46 (2)	XLID46, MRX46	300436	Xq25-q26
Intellectual developmental disorder, X-linked 50, 300115 (3)	SYN1, EPILX, MRX50	313440	Xp11.3-p11.23
Intellectual developmental disorder, X-linked 53 (2)	XLID53, MRX53	300324	Xq22.2-q26
Intellectual developmental disorder, X-linked 58, 300210 (3)	TSPAN7, TM4SF2, MXS1, A15, XLID58	300096	Xp11.4
Intellectual developmental disorder, X-linked 63, 300387 (3)	ACSL4, FACL4, ACS4, XLID63	300157	Xq23
Intellectual developmental disorder, X-linked 72, 300271 (3)	RAB39B, XLID72, WSMN, MRX72	300774	Xq28
Intellectual developmental disorder, X-linked 73 (2)	XLID73, MRX73	300355	Xp22.2
Intellectual developmental disorder, X-linked 77 (2)	XLID77, MRX77	300454	Xq12-q21.3
Intellectual developmental disorder, X-linked 81 (2)	XLID81, MRX81	300433	Xp11.2-q12
Intellectual developmental disorder, X-linked 82 (2)	XLID82, MRX82	300518	Xq24-q25
Intellectual developmental disorder, X-linked 84 (2)	XLID84, MRX84	300505	Xp11.3-q22.3
Intellectual developmental disorder, X-linked 88 (2)	XLID88, MRX88	300852	Xq24
Intellectual developmental disorder, X-linked 89 (2)	XLID89, MRX89	300848	Xp11.3
Intellectual developmental disorder, X-linked 9, 309549 (3)	FTSJ1, JM23, SPB1, MRX44, MRX9, XLID9	300499	Xp11.23
Intellectual developmental disorder, X-linked 90, 300850 (3)	DLG3, NEDLG, SAP102, XLID90	300189	Xq13.1
Intellectual developmental disorder, X-linked 91 (4)	XLID91, MRX91	300577	Xq13.3
Intellectual developmental disorder, X-linked 92 (2)	XLID92, MRX92	300851	Xp11.3
Intellectual developmental disorder, X-linked 93, 300659 (3)	BRWD3, MRX93, XLID93	300553	Xq21.1
Intellectual developmental disorder, X-linked 95 (2)	XLID95, MRX95	300716	Chr.X
Intellectual developmental disorder, X-linked 96, 300802 (3)	SYP, XLID96	313475	Xp11.23
Intellectual developmental disorder, X-linked 97, 300803 (3)	ZNF711, ZNF6, CMPX1, XLID97	314990	Xq21.1
Intellectual developmental disorder, X-linked 98, 300912 (3)	NEXMIF, KIAA2022, XLID98	300524	Xq13.3
Intellectual developmental disorder, X-linked 99, 300919 (3)	USP9X, DFFRX, XLID99, MRXS99F	300072	Xp11.4
Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, 300968 (3)	USP9X, DFFRX, XLID99, MRXS99F	300072	Xp11.4
Intellectual developmental disorder, X-linked syndromic 14, 300676 (3)	UPF3B, RENT3B, MRXS14	300298	Xq24
Intellectual developmental disorder, X-linked syndromic 33, 300966 (3)	TAF1, TAF2A, CCG1, BA2R, DYT3, MRXS33	313650	Xq13.1
Intellectual developmental disorder, X-linked syndromic 34, 300967 (3)	NONO, NRB54, MRXS34	300084	Xq13.1
Intellectual developmental disorder, X-linked syndromic, Billuart type, 300486 (3)	OPHN1, MRXSBL	300127	Xq12
Intellectual developmental disorder, X-linked syndromic, Christianson type, 300243 (3)	SLC9A6, NHE6, MRXSCH	300231	Xq26.3
Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, 300534 (3)	KDM5C, JARID1C, SMCX, DXS1272E, XE169, MRXSCJ	314690	Xp11.22
Intellectual developmental disorder, X-linked syndromic, Lubs type, 300260 (3)	MECP2, RTT, PPMX, AUTSX3, MRXSL, MRXS13	300005	Xq28
Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, 309583 (3)	SMS, SRS, MRXSSR	300105	Xp22.11
Intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type, 300434 (3)	SHROOM4, KIAA1202, SDSX, MRXSSDS	300579	Xp11.22
Intellectual developmental disorder, X-linked, 300495 (3)	NLGN4, KIAA1260, AUTSX2, ASPGX2	300427	Xp22.32-p22.31
Intellectual developmental disorder, X-linked, Turner type, 309590 (3)	HUWE1, UREB1, KIAA0312, LASU1, MRXST	300697	Xp11.22
Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, 300958 (3)	DDX3X, DDX3, DBX, MRX102, MRXSSB	300160	Xp11.4
Intellectual developmental disorder, X-linked, syndromic 13, 300055 (3)	MECP2, RTT, PPMX, AUTSX3, MRXSL, MRXS13	300005	Xq28
Intellectual developmental disorder, X-linked, syndromic 16, 305400 (3)	FGD1, FGDY, AAS, MRXS16	300546	Xp11.22
Intellectual developmental disorder, X-linked, syndromic 17 (2)	MRXS17	300858	Xp21.1-p11.23
Intellectual developmental disorder, X-linked, syndromic 7 (2)	MRXS7	300218	Xp11.3-q22
Intellectual developmental disorder, X-linked, syndromic 9 (2)	MRXS9	300709	Xq12-q21.31
Intellectual developmental disorder, X-linked, syndromic, 35, 300998 (3)	RPL10, DXS648, QM, AUTSX5, MRXS35	312173	Xq28
Intellectual developmental disorder, X-linked, syndromic, Abidi type (2)	MRXSAB	300262	Xq13.2
Intellectual developmental disorder, X-linked, syndromic, Armfield type (3)	MRXSA	300261	Xq28
Intellectual developmental disorder, X-linked, syndromic, Armfield type, 300261 (3)	FAM50A, DXS9928E, HXC26, MRXSA	300453	Xq28
Intellectual developmental disorder, X-linked, syndromic, Bain type, 300986 (3)	HNRNPH2, NRPH2, MRXSB	300610	Xq22.1
Intellectual developmental disorder, X-linked, syndromic, Cabezas type, 300354 (3)	CUL4B, MRXSC, MRXHF2, SFM2, MRXS15	300304	Xq24
Intellectual developmental disorder, X-linked, syndromic, Chudley-Schwartz type (2)	MRXSCS	300861	Xq21.33-q23
Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, 301039 (3)	NKAP, MRXSHD	300766	Xq24
Intellectual developmental disorder, X-linked, syndromic, Hedera type, 300423 (3)	ATP6AP2, ATP6M8-9, XMRE, MRXSH, XPDS, CDG2R	300556	Xp11.4
Intellectual developmental disorder, X-linked, syndromic, Houge type, 301008 (3)	CNKSR2, CNK2, KIAA0902, MRXSHG	300724	Xp22.12
Intellectual developmental disorder, X-linked, syndromic, Nascimento type, 300860 (3)	UBE2A, RAD6A, MRXSN, MRXS30	312180	Xq24
Intellectual developmental disorder, X-linked, syndromic, Pilorge type, 301076 (3)	GLRA2, MRXSP	305990	Xp22.2
Intellectual developmental disorder, X-linked, syndromic, Raymond type, 300799 (3)	ZDHHC9, DHHC9, MRXSR	300646	Xq26.1
Intellectual developmental disorder, X-linked, syndromic, Siderius type, 300263 (3)	PHF8, ZNF422, KIAA1111, MRXSSD	300560	Xp11.22
Intellectual developmental disorder, X-linked, syndromic, Wu type, 300699 (3)	GRIA3, GLUR3, MRXSW	305915	Xq25
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, 301066 (3)	TFE3, RCCX1, MRXSPF	314310	Xp11.23
Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency, 300123 (3)	SOX3, MRGH	313430	Xq27.1
Intellectual developmental disorder, X-linked, with short stature (2)	MRXSS	300360	Xq24
Intellectual developmental disorder, X-linked, with skeletal dysplasia and abducens palsy (2)	MRSD, CHRS	309620	Xq28
Intellectual developmental disorder, autosomal dominant 1, 156200 (3)	MBD5, KIAA1461, MRD1	611472	2q23.1
Intellectual developmental disorder, autosomal dominant 13, 614563 (3)	DYNC1H1, DNCL, DNECL, CMT2O, MRD13, SMALED1	600112	14q32.31
Intellectual developmental disorder, autosomal dominant 2 (4)	MRD2	614113	9p24
Intellectual developmental disorder, autosomal dominant 21, 615502 (3)	CTCF, MRD21	604167	16q22.1
Intellectual developmental disorder, autosomal dominant 22, 612337 (3)	ZBTB18, ZNF238, RP58, MRD22	608433	1q44
Intellectual developmental disorder, autosomal dominant 23, 615761 (3)	SETD5, KIAA1757, MRD23	615743	3p25.3
Intellectual developmental disorder, autosomal dominant 26, 615834 (3)	KIAA0442, MRD26, AUTS2	607270	7q11.22
Intellectual developmental disorder, autosomal dominant 29, 616078 (3)	SETBP1, KIAA0437, SEB, MRD29	611060	18q12.3
Intellectual developmental disorder, autosomal dominant 3, 612580 (3)	CDH15, CDH14, CDH3, MRD3	114019	16q24.3
Intellectual developmental disorder, autosomal dominant 30, 616083 (3)	ZMYND11, BS69, BRAM1, MRD30	608668	10p15.3
Intellectual developmental disorder, autosomal dominant 33, 616311 (3)	DPP6, VF2, MRD33	126141	7q36.2
Intellectual developmental disorder, autosomal dominant 34, 616351 (3)	COL4A3BP, GPBP, CERT, MRD34	604677	5q13.3
Intellectual developmental disorder, autosomal dominant 35, 616355 (3)	PPP2R5D, MRD35	601646	6p21.1
Intellectual developmental disorder, autosomal dominant 36, 616362 (3)	PPP2R1A, MRD36	605983	19q13.41
Intellectual developmental disorder, autosomal dominant 38, 616393 (3)	EEF1A2, DEE33, MRD38	602959	20q13.33
Intellectual developmental disorder, autosomal dominant 39, 616521 (3)	MYT1L, KIAA1106, MRD39	613084	2p25.3
Intellectual developmental disorder, autosomal dominant 4 (2)	MRD4	612581	11q24.2
Intellectual developmental disorder, autosomal dominant 40, 616579 (3)	CHAMP1, ZNF828, C13orf8, KIAA1802, MRD40	616327	13q34
Intellectual developmental disorder, autosomal dominant 41, 616944 (3)	TBL1XR1, TBLR1, IRA1, C21, MRD41	608628	3q26.32
Intellectual developmental disorder, autosomal dominant 42, 616973 (3)	GNB1, MRD42, MDS	139380	1p36.33
Intellectual developmental disorder, autosomal dominant 43, 616977 (3)	HIVEP2, MRD43	143054	6q24.2
Intellectual developmental disorder, autosomal dominant 44, with microcephaly, 617061 (3)	TRIO, MRD44, MRD63	601893	5p15.2
Intellectual developmental disorder, autosomal dominant 45, 617600 (3)	CIC, KIAA0306, MRD45	612082	19q13.2
Intellectual developmental disorder, autosomal dominant 46, 617601 (3)	KCNQ5, MRD46	607357	6q13
Intellectual developmental disorder, autosomal dominant 47, 617635 (3)	STAG1, MRD47	604358	3q22.3
Intellectual developmental disorder, autosomal dominant 48, 617751 (3)	RAC1, MRD48	602048	7p22.1
Intellectual developmental disorder, autosomal dominant 49, 617752 (3)	TRIP12, MRD49	604506	2q36.3
Intellectual developmental disorder, autosomal dominant 5, 612621 (3)	SYNGAP1, MRD5	603384	6p21.32
Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, 617787 (3)	NAA15, NARG1, NATH, MRD50	608000	4q31.1
Intellectual developmental disorder, autosomal dominant 51, 617788 (3)	KMT5B, SUV420H1, CGI85, MRD51	610881	11q13.2
Intellectual developmental disorder, autosomal dominant 52, 617796 (3)	ASH1L, KIAA1420, ASH1, MRD52	607999	1q22
Intellectual developmental disorder, autosomal dominant 53, 617798 (3)	CAMK2A, KIAA0968, CAMKA, MRD53, MRT63	114078	5q32
Intellectual developmental disorder, autosomal dominant 54, 617799 (3)	CAMK2B, MRD54	607707	7p13
Intellectual developmental disorder, autosomal dominant 55, with seizures, 617831 (3)	NUS1, NGBR, C6orf68, CDG1AA, MRD55	610463	6q22.1
Intellectual developmental disorder, autosomal dominant 56, 617854 (3)	CLTC, MRD56	118955	17q23.1
Intellectual developmental disorder, autosomal dominant 57, 618050 (3)	TLK2, MRD57	608439	17q23.2
Intellectual developmental disorder, autosomal dominant 58, 618106 (3)	SET, MRD58	600960	9q34.11
Intellectual developmental disorder, autosomal dominant 59, 618522 (3)	CAMK2G, CAMKG, MRD59	602123	10q22.2
Intellectual developmental disorder, autosomal dominant 6, with or without seizures, 613970 (3)	GRIN2B, NMDAR2B, MRD6, DEE27	138252	12p13.1
Intellectual developmental disorder, autosomal dominant 61, 618009 (3)	MED13, THRAP1, TRAP240, MRD61	603808	17q23.2
Intellectual developmental disorder, autosomal dominant 62, 618793 (3)	DLG4, PSD95, SAP90, MRD62	602887	17p13.1
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, 618825 (3)	TRIO, MRD44, MRD63	601893	5p15.2
Intellectual developmental disorder, autosomal dominant 64, 619188 (3)	ZNF292, ZFP292, KIAA0530, MRD64	616213	6q14.3
Intellectual developmental disorder, autosomal dominant 65, 619320 (3)	KDM4B, JMJD2B, KIAA0876, MRD65	609765	19p13.3
Intellectual developmental disorder, autosomal dominant 7, 614104 (3)	DYRK1A, MNBH, MNB, MRD7	600855	21q22.13
Intellectual developmental disorder, autosomal dominant, FRA12A type, 136630 (3)	DIP2B, KIAA1463	611379	12q13.12
Intellectual developmental disorder, autosomal recessive 1, 249500 (3)	PRSS12, BSSP3, MRT1	606709	4q26
Intellectual developmental disorder, autosomal recessive 10/20 (2)	MRT10, MRT20	611096	16p12.2-q12.1
Intellectual developmental disorder, autosomal recessive 11 (2)	MRT11	611097	19q13.2-q13.3
Intellectual developmental disorder, autosomal recessive 12, 611090 (3)	ST3GAL3, SIAT6, ST3GALII, MRT12, DEE15	606494	1p34.1
Intellectual developmental disorder, autosomal recessive 13, 613192 (3)	TRAPPC9, NIBP, KIAA1882, MRT13	611966	8q24.3
Intellectual developmental disorder, autosomal recessive 14, 614020 (3)	TECR, GPSN2, TER, SC2, MRT14	610057	19p13.12
Intellectual developmental disorder, autosomal recessive 16 (2)	MRT16	614208	9p23-p13.3
Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy, 614249 (3)	MED23, MRT18	605042	6q23.2
Intellectual developmental disorder, autosomal recessive 19 (2)	MRT19	614343	18p11.3
Intellectual developmental disorder, autosomal recessive 2, 607417 (3)	CRBN, MRT2	609262	3p26.2
Intellectual developmental disorder, autosomal recessive 23 (2)	MRT23	614344	11p13-q14.1
Intellectual developmental disorder, autosomal recessive 24 (2)	MRT24	614345	6p12.2-q12
Intellectual developmental disorder, autosomal recessive 25 (2)	MRT25	614346	12q13.11-q15
Intellectual developmental disorder, autosomal recessive 27, 614340 (3)	LINS1, WINS1, FLJ10583, MRT27	610350	15q26.3
Intellectual developmental disorder, autosomal recessive 28 (2)	MRT28	614347	6q26-q27
Intellectual developmental disorder, autosomal recessive 29 (2)	MRT29	614333	4q27-q28.2
Intellectual developmental disorder, autosomal recessive 3, 608443 (3)	CC2D1A, MRT3	610055	19p13.12
Intellectual developmental disorder, autosomal recessive 30 (2)	MRT30	614342	6q12-q15
Intellectual developmental disorder, autosomal recessive 31 (2)	MRT31	614329	4q12-q13.1
Intellectual developmental disorder, autosomal recessive 33 (2)	MRT33	614341	17p13.2-p13.1
Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly, 614499 (3)	CRADD, RAIDD, MRT34	603454	12q22
Intellectual developmental disorder, autosomal recessive 35 (2)	MRT35	615162	17q21.31-q22
Intellectual developmental disorder, autosomal recessive 37, 615493 (3)	ANK3, MRT37	600465	10q21.2
Intellectual developmental disorder, autosomal recessive 38, 615516 (3)	HERC2, SHEP1, MRT38	605837	15q13.1
Intellectual developmental disorder, autosomal recessive 39, 615541 (3)	TTI2, C8orf41, MRT39	614426	8p12
Intellectual developmental disorder, autosomal recessive 4 (2)	MRT4	611107	1p21.1-p13.3
Intellectual developmental disorder, autosomal recessive 40, 615599 (3)	TAF2, TAF2B, TAFII150, CIF150, MRT40	604912	8q24.12
Intellectual developmental disorder, autosomal recessive 41, 615637 (3)	KPTN, 2E4, MRT41	615620	19q13.32
Intellectual developmental disorder, autosomal recessive 43, 615817 (3)	WASHC4, KIAA1033, SWIP, MRT43	615748	12q23.3
Intellectual developmental disorder, autosomal recessive 44, 615942 (3)	METTL23, C17orf95, MRT44	615262	17q25.1
Intellectual developmental disorder, autosomal recessive 46, 616116 (3)	NDST1, HSST, MRT46	600853	5q33.1
Intellectual developmental disorder, autosomal recessive 47, 616193 (3)	FMN2, MRT47	606373	1q43
Intellectual developmental disorder, autosomal recessive 48, 616269 (3)	SLC6A17, NTT4, MRT48	610299	1p13.3
Intellectual developmental disorder, autosomal recessive 5, 611091 (3)	NSUN2, TRM4, SAKI, MISU, MRT5	610916	5p15.31
Intellectual developmental disorder, autosomal recessive 51, 616739 (3)	HNMT, MRT51	605238	2q22.1
Intellectual developmental disorder, autosomal recessive 54, 617028 (3)	TNIK, KIAA0551, MRT54	610005	3q26.2-q26.31
Intellectual developmental disorder, autosomal recessive 56, 617125 (3)	ZC3H14, SUT2, MRT56	613279	14q31.3
Intellectual developmental disorder, autosomal recessive 57, 617188 (3)	MBOAT7, BB1, LENG4, MRT57	606048	19q13.42
Intellectual developmental disorder, autosomal recessive 58, 617270 (3)	ELP2, STATIP1, MRT58	616054	18q12.2
Intellectual developmental disorder, autosomal recessive 59, 617323 (3)	IMPA1, MRT59	602064	8q21.13
Intellectual developmental disorder, autosomal recessive 6, 611092 (3)	GRIK2, GLUR6, MRT6, NEDLAS	138244	6q16.3
Intellectual developmental disorder, autosomal recessive 60, 617432 (3)	TAF13, TAF2K, MRT60	600774	1p13.3
Intellectual developmental disorder, autosomal recessive 61, 617773 (3)	RUSC2, KIAA0375, IPORIN, MRT61	611053	9p13.3
Intellectual developmental disorder, autosomal recessive 64, 618103 (3)	LINGO1, LRRN6A, LERN1, MRT64	609791	15q24.3
Intellectual developmental disorder, autosomal recessive 65, 618109 (3)	KDM5B, JARID1B, PUT1, PLU1, RBBP2H1A, MRT65	605393	1q32.1
Intellectual developmental disorder, autosomal recessive 66, 618221 (3)	C12orf4, MRT66	616082	12p13.32
Intellectual developmental disorder, autosomal recessive 67, 618295 (3)	EIF3F, EIF3S5, MRT67	603914	11p15.4
Intellectual developmental disorder, autosomal recessive 68, 618302 (3)	TRMT1, TRM1, MRT68	611669	19p13.13
Intellectual developmental disorder, autosomal recessive 69, 618383 (3)	ZBTB11, MRT69	618181	3q12.3
Intellectual developmental disorder, autosomal recessive 7, 611093 (3)	TUSC3, M33, D8S1992, MRT7, MRT22	601385	8p22
Intellectual developmental disorder, autosomal recessive 70, 618402 (3)	RSRC1, SRRP53, MRT70	613352	3q25.32
Intellectual developmental disorder, autosomal recessive 71, 618504 (3)	ALKBH8, ABH8, MRT71	613306	11q22.3
Intellectual developmental disorder, autosomal recessive 72, 618665 (3)	METTL5, HSPC133, MRT72	618628	2q31.1
Intellectual developmental disorder, autosomal recessive 73, 619717 (3)	NAA20, NAT5, NAT3, MRT73	610833	20p11.23
Intellectual developmental disorder, autosomal recessive 74, 617169 (3)	APC2, APCL, MRT74	612034	19p13.3
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, 619827 (3)	PIDD1, LRDD, MRT75	605247	11p15.5
Intellectual developmental disorder, autosomal recessive 9/26 (2)	MRT9, MRT26	611095	14q11.2-q12
Intellectual developmental disorder, with or without nystagmus, 300422 (3)	CASK, MICPCH, FGS4, CMG, MRXSNA	300172	Xp11.4
Intellectual disability and myopathy syndrome, 619719 (3)	ABCC9, SUR2, CMD1O, ATFB12, CANTU, IDMYS	601439	12p12.1
Intellectual disability-hypotonic facies syndrome, X-linked, 309580 (3)	ATRX, XH2, XNP, SHS, SFM1, MRXHF1	300032	Xq21.1
Interferon, alpha, deficiency (1)	IFNA1, IFNA@	147660	9p21.3
Interleukin 1 receptor antagonist deficiency, 612852 (3)	IL1RN, MVCD4, DIRA	147679	2q14.1
Interstitial lung and liver disease, 615486 (3)	MARS1, MARS, MTRNS, METRS, ILLD, CMT2U, TTD9	156560	12q13.3
Interstitial lung disease 1, 619611 (3)	SFTPA1, SFTP1, ILD1	178630	10q22.3
Interstitial lung disease 2, 178500 (3)	SFTPA2, SPA2, COLEC5, ILD2	178642	10q22.3
Interstitial nephritis, karyomegalic, 614817 (3)	FAN1, MTMR15, KIAA1018, KMIN	613534	15q13.3
Intestinal pseudoobstruction, neuronal, 300048 (3)	FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2	300017	Xq28
Intrinsic factor deficiency, 261000 (3)	CBLIF, GIF, IF	609342	11q12.1
Iron-refractory iron deficiency anemia, 206200 (3)	TMPRSS6, IRIDA	609862	22q12.3
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 (3)	TBX4, ICPPS, PAPPAS	601719	17q23.2
Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)	ACAD8	604773	11q25
Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200 (3)	BTK, AGMX1, IMD1, XLA, AT, IGHD3	300300	Xq22.1
Isovaleric acidemia, 243500 (3)	IVD	607036	15q15.1
Jaberi-Elahi syndrome, 617988 (3)	GTPBP2, JABELS	607434	6p21.1
Jackson-Weiss syndrome, 123150 (3)	FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL	136350	8p11.23
Jackson-Weiss syndrome, 123150 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Jacobsen syndrome (4)	JBS	147791	11q23.3-q25
Jalili syndrome, 217080 (3)	CNNM4, ACDP4	607805	2q11.2
Jansen de Vries syndrome, 617450 (3)	PPM1D, WIP1, JDVS	605100	17q23.2
Jawad syndrome, 251255 (3)	RBBP8, RIM, SCKL2, JWDS	604124	18q11.2
Jervell and Lange-Nielsen syndrome 2, 612347 (3)	KCNE1, JLNS, LQT5, JLNS2	176261	21q22.12
Jervell and Lange-Nielsen syndrome, 220400 (3)	KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2	607542	11p15.5-p15.4
Johanson-Blizzard syndrome, 243800 (3)	UBR1, JBS	605981	15q15.2
Joint laxity, short stature, and myopia, 617662 (3)	GZF1, ZNF336, JLSM	613842	20p11.21
Joubert syndrome 1, 213300 (3)	INPP5E, MORMS, JBTS1, CORS1	613037	9q34.3
Joubert syndrome 10, 300804 (3)	OFD1, CXorf5, SGBS2, JBTS10, RP23	300170	Xp22.2
Joubert syndrome 12, 200990 (3)	KIF7, HLS2, ACLS, JBTS12, AGBK	611254	15q26.1
Joubert syndrome 13, 614173 (3)	TECT1, JBTS13	609863	12q24.11
Joubert syndrome 14, 614424 (3)	TMEM237, ALS2CR4, JBTS14	614423	2q33.1
Joubert syndrome 15, 614464 (3)	CEP41, TSGA14, JBTS15	610523	7q32.2
Joubert syndrome 16, 614465 (3)	TMEM138, JBTS16	614459	11q12.2
Joubert syndrome 17, 614615 (3)	CPLANE1, C5orf42, JBTS17, OFD6	614571	5p13.2
Joubert syndrome 18, 614815 (3)	TCTN3, TECT3, C10orf61, OFD4, JBTS18	613847	10q24.1
Joubert syndrome 19, 614844 (3)	ZNF423, ZFP423, OAZ, KIAA0760, NPHP14, JBTS19	604557	16q12.1
Joubert syndrome 2, 608091 (3)	TMEM216, JBTS2, CORS2, MKS2	613277	11q12.2
Joubert syndrome 20, 614970 (3)	TMEM231, JBTS20, MKS11	614949	16q23.1
Joubert syndrome 21, 615636 (3)	CSPP1, CSPP, JBTS21	611654	8q13.1-q13.2
Joubert syndrome 22, 615665 (3)	PDE6D, JBTS22	602676	2q37.1
Joubert syndrome 23, 616490 (3)	KIAA0586, TALPID3, JBTS23, SRTD14	610178	14q23.1
Joubert syndrome 24, 616654 (3)	TCTN2, TECT2, MKS8, JBTS24	613846	12q24.31
Joubert syndrome 25, 616781 (3)	CEP104, GLYBP, KIAA0562, JBTS25	616690	1p36.32
Joubert syndrome 26, 616784 (3)	KATNIP, KIAA0556	616650	16p12.1
Joubert syndrome 27, 617120 (3)	B9D1, MKSR1, MKS9, JBTS27	614144	17p11.2
Joubert syndrome 28, 617121 (3)	MKS1, MKS, BBS13, JBTS28	609883	17q22
Joubert syndrome 3, 608629 (3)	AHI1	608894	6q23.3
Joubert syndrome 30, 617622 (3)	ARMC9, KIAA1868, JBTS30	617612	2q37.1
Joubert syndrome 31, 617761 (3)	CEP120, CCDC100, SRTD13, JBTS31	613446	5q23.2
Joubert syndrome 32, 617757 (3)	SUFU, SUFUXL, SUFUH, JBTS32	607035	10q24.32
Joubert syndrome 33, 617767 (3)	PIBF1, JBTS33	607532	13q21.33-q22.1
Joubert syndrome 34, 614175 (3)	B9D2, MKS10, JBTS34	611951	19q13.2
Joubert syndrome 35, 618161 (3)	ARL3, ARFL3, JBTS35, RP83	604695	10q24.32
Joubert syndrome 36, 618763 (3)	FAM149B1, KIAA0974, JBTS36	618413	10q22.2
Joubert syndrome 37, 619185 (3)	TOGARAM1, FAM179B, KIAA0423, JBTS37	617618	14q21.2
Joubert syndrome 39, 619562 (3)	TMEM218, JBTS39	619285	11q24.2
Joubert syndrome 4, 609583 (3)	NPHP1, NPH1, SLSN1, JBTS4	607100	2q13
Joubert syndrome 40, 619582 (3)	IFT74, CCDC2, CMG1, BBS22, JBTS40, SPGF58	608040	9p21.2
Joubert syndrome 5, 610188 (3)	CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14	610142	12q21.32
Joubert syndrome 6, 610688 (3)	TMEM67, MKS3, JBTS6, NPHP11	609884	8q22.1
Joubert syndrome 7, 611560 (3)	RPGRIP1L, KIAA1005, JBTS7, MKS5, COACH3	610937	16q12.2
Joubert syndrome 8, 612291 (3)	ARL13B, ARL2L1, JBTS8	608922	3q11.1-q11.2
Joubert syndrome 9, 612285 (3)	CC2D2A, KIAA1345, MKS6, COACH2, RP93	612013	4p15.32
Juberg-Hayward syndrome, 216100 (3)	ESCO2, RBS, JHS	609353	8p21.1
Juvenile arthritis, 618795 (3)	LACC1, C13orf31, JUVAR	613409	13q14.11
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3)	SMAD4, MADH4, DPC4, JIP, MYHRS	600993	18q21.2
KBG syndrome, 148050 (3)	ANKRD11, ANCO1, KBGS	611192	16q24.3
KINSSHIP syndrome, 619297 (3)	AFF3, LAF4, KINS	601464	2q11.2
Kabuki syndrome 1, 147920 (3)	KMT2D, MLL2, ALR, KABUK1	602113	12q13.12
Kabuki syndrome 2, 300867 (3)	KDM6A, UTX, KABUK2	300128	Xp11.3
Kagami-Ogata syndrome (4)	KAOGS	608149	14q32
Kahrizi syndrome, 612713 (3)	SRD5A3, SRD5A2L, CDG1Q, KRIZI	611715	4q12
Kanzaki disease, 609242 (3)	NAGA	104170	22q13.2
Kappa light chain deficiency, 614102 (3)	IGKC, IGKCD	147200	2p11.2
Kaufman oculocerebrofacial syndrome, 244450 (3)	UBE3B, BPIDS, KOS	608047	12q24.11
Kaya-Barakat-Masson syndrome, 619125 (3)	YIF1B, KABAMAS	619109	19q13.2
Keipert syndrome, 301026 (3)	GPC4, KPTS	300168	Xq26.2
Kenny-Caffey syndrome, type 1, 244460 (3)	TBCE, KCS, KCS1, HRD, PEAMO	604934	1q42.3
Kenny-Caffey syndrome, type 2, 127000 (3)	FAM111A, KIAA1895, KCS2, GCLEB	615292	11q12.1
Keppen-Lubinsky syndrome, 614098 (3)	KCNJ6, GIRK2, KCNJ7, KPLBS	600877	21q22.13
Keratitis, 148190 (3)	PAX6, AN2, MGDA, FVH1, ASGD5	607108	11p13
Keratitis-ichthyosis-deafness syndrome, 148210 (3)	GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID, BAPS	121011	13q12.11
Keratitis-ichthyosis-deafness syndrome, autosomal recessive, 242150 (3)	AP1B1, ADTB1, BAM22, CLAPB2, KIDAR	600157	22q12.2
Keratoconus 1, 148300 (3)	VSX1, RINX, KTCN1, CAASDS	605020	20p11.21
Keratoconus 2 (2)	KTCN2	608932	16q22.3-q23.1
Keratoconus 3 (2)	KTCN3	608586	3p14-q13
Keratoconus 4 (2)	KTCN4	609271	2p24
Keratoconus 5 (2)	KTCN5	614622	5q14.1-q21.3
Keratoconus 6 (2)	KTCN6	614623	9q34
Keratoconus 7 (2)	KTCN7	614629	13q32
Keratoconus 8 (2)	KTCN8	614628	14q24.3
Keratoconus 9, 617928 (3)	TUBA3D, KTCN9	617878	2q21.1
Keratoderma, palmoplantar, punctate type IA, 148600 (3)	AAGAB, p34, PPKP1A, PPKP1, KPPP1	614888	15q23
Keratoderma, palmoplantar, punctate type IB (2)	PPKP1B	614936	8q24.13-q24.21
Keratoderma, palmoplantar, with deafness, 148350 (3)	GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID, BAPS	121011	13q12.11
Keratoendothelitis fugax hereditaria, 148200 (3)	NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH	606416	1q44
Keratolytic winter erythema, 148370 (4)	CTSB, CPSB, RECEUP	116810	8p23.1
Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3)	MBTPS2, S2P, IFAP, KFSDX, OLMSX, OI19	300294	Xp22.12
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)	POMP, UMP1, PRAAS2	613386	13q12.3
Keratosis palmoplantaris striata I, AD, 148700 (3)	DSG1, PPKS1, SPPK1, EPKHE	125670	18q12.1
Keratosis palmoplantaris striata II, 612908 (3)	DSP, KPPS2, PPKS2, DCWHKTA	125647	6p24.3
Keratosis palmoplantaris striata III, 607654 (3)	KRT1, EPPK, NEPPK, EHK	139350	12q13.13
Keratosis, seborrheic, somatic, 182000 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
Keutel syndrome, 245150 (3)	MGP	154870	12p12.3
Khan-Khan-Katsanis syndrome, 618460 (3)	NCAPG2, CAPG2, MTB, 3KS	608532	7q36.3
Kilquist syndrome, 619080 (3)	SLC12A2, NKCC1, KILQS	600840	5q23.3
Kindler syndrome, 173650 (3)	FERMT1, KIND1, URP1, C20orf42	607900	20p12.3
King-Denborough syndrome, 619542 (3)	RYR1, MHS, CCO, KDS	180901	19q13.2
Kleefstra syndrome 1, 610253 (3)	EHMT1, EUHMTASE1, KMT1D, DEL9q34, KLEFS1	607001	9q34.3
Kleefstra syndrome 2, 617768 (3)	KMT2C, MLL3, KIAA1506, KLEFS2	606833	7q36.1
Klippel-Feil syndrome 1, autosomal dominant, 118100 (3)	GDF6, MCOP4, KFS1, MCOPCB6, LCA17, SYNS4	601147	8q22.1
Klippel-Feil syndrome 2, 214300 (3)	MEOX1, MOX1, KFS2	600147	17q21.31
Klippel-Feil syndrome 3, autosomal dominant, 613702 (3)	GDF3, KFS3, MCOPCB6, MCOP7	606522	12p13.31
Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)	MYO18B, KFS4	607295	22q12.1
Klippel-Trenaunay-Weber syndrome (2)	KTWS, KTS	149000	8q22.3
Kniest dysplasia, 156550 (3)	COL2A1	120140	12q13.11
Knobloch syndrome, type 1, 267750 (3)	COL18A1, KNO1, GLCC	120328	21q22.3
Kohlschutter-Tonz syndrome, 226750 (3)	ROGDI, KTZS	614574	16p13.3
Kohlschutter-Tonz syndrome-like, 619229 (3)	SATB1, DEFDA, KTZSL	602075	3p24.3
Kondoh syndrome (2)	KONDS	606242	1p36.32-p35.3
Koolen-De Vries syndrome, 610443 (3)	KANSL1, KIAA1267, MSL1V1, KDVS	612452	17q21.31
Kosaki overgrowth syndrome, 616592 (3)	PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS	173410	5q32
Kowarski syndrome, 262650 (3)	GH1, GHN, IGHD1A, IGHD1B, IGHD2	139250	17q23.3
Krabbe disease, 245200 (3)	GALC	606890	14q31.3
Krabbe disease, atypical, 611722 (3)	PSAP, SAP1, PSAPD, PARK24	176801	10q22.1
Kufor-Rakeb syndrome, 606693 (3)	ATP13A2, PARK9, KRPPD, SPG78	610513	1p36.13
Kury-Isidor syndrome, 619762 (3)	BAP1, TPDS, KURIS	603089	3p21.1
Kyphoscoliosis 1 (2)	KYPSC1	610170	5p13
L-2-hydroxyglutaric aciduria, 236792 (3)	L2HGDH, C14orf160, L2HGA	609584	14q21.3
L-ferritin deficiency, dominant and recessive, 615604 (3)	FTL, NBIA3, LFTD	134790	19q13.33
LADD syndrome, 149730 (3)	FGF10	602115	5p12
LADD syndrome, 149730 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
LADD syndrome, 149730 (3)	FGFR3, ACH	134934	4p16.3
LCHAD deficiency, 609016 (3)	HADHA, MTPA	600890	2p23.3
LDL cholesterol level QTL2, 143890 (3)	LDLR, FHCL1, FHC, FH, LDLCQ2	606945	19p13.2
LEOPARD syndrome 1, 151100 (3)	PTPN11, PTP2C, SHP2, NS1, JMML, METCDS	176876	12q24.13
LEOPARD syndrome 2, 611554 (3)	RAF1, CRAF, NS5, CMD1NN	164760	3p25.2
LEOPARD syndrome 3, 613707 (3)	BRAF, NS7	164757	7q34
LIG4 syndrome, 606593 (3)	LIG4, LIG4S	601837	13q33.3
Lactase deficiency, congenital, 223000 (3)	LCT, LAC, LPH	603202	2q21.3
Lactase persistence/nonpersistence, 223100 (3)	MCM6	601806	2q21.3
Lacticacidemia due to PDX1 deficiency, 245349 (3)	PDHX, PDX1, E3BP, PDHXD	608769	11p13
Laing distal myopathy, 160500 (3)	MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD	160760	14q11.2
Lamb-Shaffer syndrome, 616803 (3)	SOX5, LAMSHF	604975	12p12.1
Langer mesomelic dysplasia, 249700 (3)	SHOX, GCFX, SS, PHOG	312865	Xp22.33
Langer mesomelic dysplasia, 249700 (3)	SHOXY	400020	Yp11.2
Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3)	GNB5, GB5, IDDCA, LADCI	604447	15q21.2
Laron dwarfism, 262500 (3)	GHR, GHIP	600946	5p13.1-p12
Larsen syndrome, 150250 (3)	FLNB, SCT, AOI, LRS1	603381	3p14.3
Larsen-like syndrome (2)	LRSL	608545	6p25
Lateral meningocele syndrome, 130720 (3)	NOTCH3, CADASIL1, CASIL, IMF2, LMNS	600276	19p13.12
Lathosterolosis, 607330 (3)	SC5D, ERG3	602286	11q23.3-q24.1
Laurin-Sandrow syndrome, 135750 (3)	LMBR1, ACHP, C7orf2, PPD2, THYP, LSS	605522	7q36.3
Leber congenital amaurosis 1, 204000 (3)	GUCY2D, GUC2D, LCA1, CORD6, RCD2, CACD1, CSNB1I	600179	17p13.1
Leber congenital amaurosis 10, 611755 (3)	CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14	610142	12q21.32
Leber congenital amaurosis 11, 613837 (3)	IMPDH1, RP10, LCA11	146690	7q32.1
Leber congenital amaurosis 12, 610612 (3)	RD3, LCA12, C1orf36	180040	1q32.3
Leber congenital amaurosis 13, 612712 (3)	RDH12, LCA13	608830	14q24.1
Leber congenital amaurosis 14, 613341 (3)	LRAT, LCA14	604863	4q32.1
Leber congenital amaurosis 15, 613843 (3)	TULP1, RP14, LCA15	602280	6p21.31
Leber congenital amaurosis 16, 614186 (3)	KCNJ13, SVD, LCA16	603208	2q37.1
Leber congenital amaurosis 17, 615360 (3)	GDF6, MCOP4, KFS1, MCOPCB6, LCA17, SYNS4	601147	8q22.1
Leber congenital amaurosis 18, 608133 (3)	PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1	179605	6p21.1
Leber congenital amaurosis 2, 204100 (3)	RPE65, RP20, LCA2	180069	1p31.3
Leber congenital amaurosis 3, 604232 (3)	SPATA7, HSD3, LCA3	609868	14q31.3
Leber congenital amaurosis 4, 604393 (3)	AIPL1, LCA4	604392	17p13.2
Leber congenital amaurosis 5, 604537 (3)	LCA5, C6orf152	611408	6q14.1
Leber congenital amaurosis 6, 613826 (3)	RPGRIP1, LCA6, CORD13	605446	14q11.2
Leber congenital amaurosis 7, 613829 (3)	CRX, CORD2, CRD, LCA7	602225	19q13.33
Leber congenital amaurosis 8, 613835 (3)	CRB1, RP12, LCA8	604210	1q31.3
Leber congenital amaurosis 9, 608553 (3)	NMNAT1, NMNAT, PNAT1, LCA9, SHILCA	608700	1p36.22
Leber congenital amaurosis with early-onset deafness, 617879 (3)	TUBB4B, TUBB2C, LCAEOD	602660	9q34.3
Leber hereditary optic neuropathy, autosomal recessive, 619382 (3)	DNAJC30, WBSCR18, LHONAR, MC1DN38	618202	7q11.23
Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)	DTNA, D18S892E, DRP3, LVNC1	601239	18q12.1
Left ventricular noncompaction 10, 615396 (3)	MYBPC3, CMH4, CMD1MM, LVNC10	600958	11p11.2
Left ventricular noncompaction 2 (2)	LVNC2	609470	11p15
Left ventricular noncompaction 3, 601493 (3)	LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3	605906	10q23.2
Left ventricular noncompaction 4, 613424 (3)	ACTC1, CMD1R, CMH11, ASD5, LVNC4	102540	15q14
Left ventricular noncompaction 5, 613426 (3)	MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD	160760	14q11.2
Left ventricular noncompaction 6, 601494 (3)	TNNT2, CMH2, CMD1D, RCM3, LVNC6	191045	1q32.1
Left ventricular noncompaction 7, 615092 (3)	MIB1, MIB, DIP1, KIAA1323, LVNC7	608677	18q11.2
Left ventricular noncompaction 8, 615373 (3)	PRDM16, MEL1, LVNC8, CMD1LL	605557	1p36.32
Left ventricular noncompaction 9, 611878 (3)	TPM1, CMH3, CMD1Y , LVNC9	191010	15q22.2
Legg-Calve-Perthes disease, 150600 (3)	COL2A1	120140	12q13.11
Legius syndrome, 611431 (3)	SPRED1, NFLS, LGSS	609291	15q14
Leiomyomatosis and renal cell cancer, 150800 (3)	FH, HLRCC, MCUL1, FMRD	136850	1q43
Lenz-Majewski hyperostotic dwarfism, 151050 (3)	PTDSS1, PSS1, KIAA0024, LMHD	612792	8q22.1
Leprechaunism, 246200 (3)	INSR, HHF5	147670	19p13.2
Leri pleonosteosis chromosome duplication syndrome (4)	DUP8q22.1, C8DUPq22.1	151200	8q22.1
Leri-Weill dyschondrosteosis, 127300 (3)	SHOX, GCFX, SS, PHOG	312865	Xp22.33
Leri-Weill dyschondrosteosis, 127300 (3)	SHOXY	400020	Yp11.2
Lesch-Nyhan syndrome, 300322 (3)	HPRT1, HPRT	308000	Xq26.2-q26.3
Lessel-Kreienkamp syndrome, 619149 (3)	AGO2, EIF2C2, LESKRES	606229	8q24.3
Lethal congenital contractural syndrome 3, 611369 (3)	PIP5K1C, LCCS3	606102	19p13.3
Lethal congenital contracture syndrome 1, 253310 (3)	GLE1, GLE1L, LCCS, LCCS1, CAAHD	603371	9q34.11
Lethal congenital contracture syndrome 10, 617022 (3)	NEK9, NERCC1, LCCS10, APUG, NC	609798	14q24.3
Lethal congenital contracture syndrome 11, 617194 (3)	GLDN, CRGL2, LCCS11	608603	15q21.2
Lethal congenital contracture syndrome 4, 614915 (3)	MYBPC1, LCCS4, MYOTREM	160794	12q23.2
Lethal congenital contracture syndrome 5, 615368 (3)	DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5	602378	19p13.2
Lethal congenital contracture syndrome 7, 616286 (3)	CNTNAP1, CASPR, P190, CHN3	602346	17q21.2
Lethal congenital contracture syndrome 8, 616287 (3)	ADCY6, LCCS8	600294	12q13.12
Lethal congenital contracture syndrome 9, 616503 (3)	ADGRG6, PR126, VIGR, LCCS9	612243	6q24.2
Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232 (3)	ABL1, CHDSKM	189980	9q34.12
Leukemia, T-cell acute lymphoblastic (2)	LMO1, RBTN1, RHOM1	186921	11p15.4
Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3)	NUP214, D9S46E, CAN, CAIN, IIAE9	114350	9q34.13
Leukemia, T-cell acute lymphoblastoid (2)	LYL1	151440	19p13.13
Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)	TAL1, TCL5, SCL	187040	1p33
Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)	TAL2	186855	9q31.2
Leukemia, acute T-cell (2)	LMO2, RBTNL1, RHOM2, TTG2	180385	11p13
Leukemia, acute lymphoblastic (2)	LALL	247640	9p22-p21
Leukemia, acute lymphoblastic, 613065 (3)	NBN, NBS1	602667	8q21.3
Leukemia, acute lymphoblastic, somatic, 613065 (3)	FLT3	136351	13q12.2
Leukemia, acute lymphoblastic, somatic, 613065 (3)	GNB1, MRD42, MDS	139380	1p36.33
Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic, 613065 (4)	BCR, CML, PHL, ALL	151410	22q11.23
Leukemia, acute myeloid, 601626 (1)	SH3GL1, EEN	601768	19p13.3
Leukemia, acute myeloid, 601626 (3)	AF10	602409	10p12.31
Leukemia, acute myeloid, 601626 (3)	LPP	600700	3q27.3-q28
Leukemia, acute myeloid, 601626 (3)	RUNX1, CBFA2, AML1	151385	21q22.12
Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3)	FLT3	136351	13q12.2
Leukemia, acute myeloid, somatic, 601626 (3)	CEBPA, CEBP	116897	19q13.11
Leukemia, acute myeloid, somatic, 601626 (3)	ETV6, TEL, THC5	600618	12p13.2
Leukemia, acute myeloid, somatic, 601626 (3)	FLT3	136351	13q12.2
Leukemia, acute myeloid, somatic, 601626 (3)	JAK2, THCYT3	147796	9p24.1
Leukemia, acute myeloid, somatic, 601626 (3)	KIT, PBT, MASTC	164920	4q12
Leukemia, acute myeloid, somatic, 601626 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	190070	12p12.1
Leukemia, acute myeloid, somatic, 601626 (3)	NPM1	164040	5q35.1
Leukemia, acute myeloid, somatic, 601626 (3)	NUP214, D9S46E, CAN, CAIN, IIAE9	114350	9q34.13
Leukemia, acute myeloid, somatic, 601626 (3)	PICALM, CALM, CLTH, LAP	603025	11q14.2
Leukemia, acute nonlymphocytic (2)	DEK, D6S231E	125264	6p22.3
Leukemia, acute promyelocytic, 612376 (1)	RARA	180240	17q21.2
Leukemia, acute promyelocytic, PL2F/RARA type (3)	ZBTB16, ZNF145, PLZF	176797	11q23.2
Leukemia, acute promyelocytic, PML/RARA type (3)	PML, MYL	102578	15q24.1
Leukemia, acute promyelocytic, somatic, 102578 (3)	STAT5B, GHISID2	604260	17q21.2
Leukemia, acute promyelocytic, somatic, 612376 (3)	NUMA1	164009	11q13.4
Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic, 608232 (4)	BCR, CML, PHL, ALL	151410	22q11.23
Leukemia, juvenile myelomonocytic, 607785 (3)	NF1, VRNF, WSS, NFNS	613113	17q11.2
Leukemia, juvenile myelomonocytic, somatic, 607785 (3)	ARHGAP26, GRAF	605370	5q31.3
Leukemia, juvenile myelomonocytic, somatic, 607785 (3)	PTPN11, PTP2C, SHP2, NS1, JMML, METCDS	176876	12q24.13
Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3)	GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP	305371	Xp11.23
Leukemia, transient, of Down syndrome (2)	TAM, MST	159595	21q11.2
Leukemia/lymphoma, B-cell, 2 (3)	BCL2	151430	18q21.33
Leukemia/lymphoma, B-cell, 3 (2)	BCL3	109560	19q13.32
Leukemia/lymphoma, T-cell (2)	TCL1A, TCL1	186960	14q32.13
Leukemia/lymphoma, T-cell (2)	TCL1B, TML1	603769	14q32.13
Leukemia/lymphoma, T-cell (2)	TCL4	186860	2q34
Leukocyte adhesion deficiency, 116920 (3)	ITGB2, CD18, LCAMB, LAD	600065	21q22.3
Leukocyte adhesion deficiency, type III, 612840 (3)	FERMT3, KIND3, URP2, MIG2B	607901	11q13.1
Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)	PLEKHG2, CLG, LDAMD	611893	19q13.2
Leukodystrophy, adult-onset, autosomal dominant, 169500 (3)	LMNB1, ADLD, MCPH26	150340	5q23.2
Leukodystrophy, hypomyelinating, 10, 616420 (3)	PYCR2, HLD10	616406	1q42.12
Leukodystrophy, hypomyelinating, 11, 616494 (3)	POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3, HLD11	610060	6p21.1
Leukodystrophy, hypomyelinating, 12, 616683 (3)	VPS11, HLD12; DYT32	608549	11q23.3
Leukodystrophy, hypomyelinating, 13, 616881 (3)	HIKESHI, C11orf73, HLD13	614908	11q14.2
Leukodystrophy, hypomyelinating, 14, 617899 (3)	UFM1, HLD14	610553	13q13.3
Leukodystrophy, hypomyelinating, 15, 617951 (3)	EPRS, PARS, HLD15	138295	1q41
Leukodystrophy, hypomyelinating, 16, 617964 (3)	TMEM106B, HLD16	613413	7p21.3
Leukodystrophy, hypomyelinating, 17, 618006 (3)	AIMP2, JTV1, HLD17	600859	7p22.1
Leukodystrophy, hypomyelinating, 18, 618404 (3)	DEGS1, DES1, MLD, HLD18	615843	1q42.11
Leukodystrophy, hypomyelinating, 19, transient infantile, 618688 (3)	TMEM63A, KIAA0792, HLD19	618685	1q42.12
Leukodystrophy, hypomyelinating, 2, 608804 (3)	GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPHM3	608803	1q42.13
Leukodystrophy, hypomyelinating, 21, 619310 (3)	POLR3K, RPC11, HLD21	606007	16p13.3
Leukodystrophy, hypomyelinating, 22, 619328 (3)	CLDN11, OTM, OSP, HLD22	601326	3q26.2
Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, 619688 (3)	RNF220, HLD23	616136	1p34.1
Leukodystrophy, hypomyelinating, 3, 260600 (3)	AIMP1, SCYE1, EMAP2, EMAPII, HLD3	603605	4q24
Leukodystrophy, hypomyelinating, 4, 612233 (3)	HSPD1, SPG13, HSP60, HLD4	118190	2q33.1
Leukodystrophy, hypomyelinating, 5, 610532 (3)	FAM126A, DRCTNNB1A, HLD5	610531	7p15.3
Leukodystrophy, hypomyelinating, 6, 612438 (3)	TUBB4A, DYT4, HLD6	602662	19p13.3
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)	POLR3A, RPC1, RPC155, ADDH, HLD7, WDRTS	614258	10q22.3
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)	POLR3B, RPC2, C128, HLD8, CMT1I	614366	12q23.3
Leukodystrophy, hypomyelinating, 9, 616140 (3)	RARS1, RARS, HLD9	107820	5q34
Leukoencephalopathy with ataxia, 615651 (3)	CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT, HALD2	600570	3q27.1
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)	DARS2, ASPRS. LBSL	610956	1q25.1
Leukoencephalopathy with vanishing white matter, 603896 (3)	EIF2B1, EIF2BA	606686	12q24.31
Leukoencephalopathy with vanishing white matter, 603896 (3)	EIF2B2	606454	14q24.3
Leukoencephalopathy with vanishing white matter, 603896 (3)	EIF2B3	606273	1p34.1
Leukoencephalopathy with vanishing white matter, 603896 (3)	EIF2B4	606687	2p23.3
Leukoencephalopathy with vanishing white matter, 603896 (3)	EIF2B5, LVWM, CACH, CLE	603945	3q27.1
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, 618384 (3)	SLC13A3, NADC3, ARLIAK	606411	20q13.12
Leukoencephalopathy, brain calcifications, and cysts, 614561 (3)	SNORD118, LCC	616663	17p13.1
Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)	RNASET2, RNASE6PL	612944	6q27
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 (3)	EIF2AK2, PRKR, LEUDEN, DYT33	176871	2p22.2
Leukoencephalopathy, diffuse hereditary, with spheroids 1, 221820 (3)	CSF1R, FMS, HDLS1, BANDDOS	164770	5q32
Leukoencephalopathy, progressive, infantile-onset, with or without deafness, 619147 (3)	KARS1, KARS, CMTRIB, DFNB89, LEPID, DEAPLE	601421	16q23.1
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)	AARS2, KIAA1270, MTALARS, COXPD8, LKENP	612035	6p21.1
Leukotriene C4 synthase deficiency, 614037 (1)	LTC4S	246530	5q35.3
Levy-Shanske syndrome (4)	LVSKS	614846	15q26-qter
Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)	LHCGR, LHR, LCGR	152790	2p16.3
Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3)	LHCGR, LHR, LCGR	152790	2p16.3
Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3)	LHCGR, LHR, LCGR	152790	2p16.3
Lhermitte-Duclos disease, 158350 (3)	PTEN, MMAC1, GLM2, CWS1	601728	10q23.31
Li-Campeau syndrome, 619189 (3)	UBR7, LICAS	613816	14q32.12
Li-Fraumeni syndrome 2, 609265 (3)	CHEK2, RAD53, CHK2, CDS1, LFS2	604373	22q12.1
Li-Fraumeni syndrome, 151623 (3)	TP53, P53, LFS1 , BCC7, BMFS5	191170	17p13.1
Li-Ghorgani-Weisz-Hubshman syndrome, 618974 (3)	KAT8, MYST1, MOF, LIGOWS	609912	16p11.2
Liang-Wang syndrome, 618729 (3)	KCNMA1, SLO, PNKD3, CADEDS, IEG16, LIWAS	600150	10q22.3
Liberfarb syndrome, 618889 (3)	PISD, PSD, PSSC, LIBF	612770	22q12.2
Lichtenstein-Knorr syndrome, 616291 (3)	SLC9A1, NHE1, APNH, LIKNS	107310	1p36.11
Liddle syndrome 1, 177200 (3)	SCNN1B, BESC1, LIDLS1	600760	16p12.2
Liddle syndrome 2, 618114 (3)	SCNN1G, PHA1, BESC3, LDLS2	600761	16p12.2
Liebenberg syndrome, 186550 (4)	PITX1, PTX1, BFT, POTX, CCF, LBNBG	602149	5q31.1
Limb-mammary syndrome, 603543 (3)	TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8	603273	3q28
Linear skin defects with multiple congenital anomalies 1, 309801 (3)	HCCS, MCOPS7, LSDMCA1	300056	Xp22.2
Linear skin defects with multiple congenital anomalies 2, 300887 (3)	COX7B, LSDMCA2	300885	Xq21.1
Linear skin defects with multiple congenital anomalies 3, 300952 (3)	NDUFB11, LSDMCA3, MC1DN30	300403	Xp11.3
Lipase deficiency, combined, 246650 (3)	LMF1, TMEM112	611761	16p13.3
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3)	FLAD1, FADS, LSMFLAD	610595	1q21.3
Lipodystrophy, congenital generalized, type 1, 608594 (3)	AGPAT2, LPAAB, BSCL, BSCL1	603100	9q34.3
Lipodystrophy, congenital generalized, type 2, 269700 (3)	BSCL2, SPG17, HMN5, PELD, HMN5C	606158	11q12.3
Lipodystrophy, congenital generalized, type 4, 613327 (3)	CAVIN1, PTRF	603198	17q21.2
Lipodystrophy, familial partial, type 2, 151660 (3)	LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS	150330	1q22
Lipodystrophy, familial partial, type 3, 604367 (3)	PPARG, PPARG1, PPARG2, CIMT1, GLM1	601487	3p25.2
Lipodystrophy, familial partial, type 4, 613877 (3)	PLIN1, PLIN, FPLD4	170290	15q26.1
Lipodystrophy, familial partial, type 6, 615980 (3)	LIPE, LHS, FPLD6	151750	19q13.2
Lipodystrophy, familial partial, type 7, 606721 (3)	CAV1, BSCL3, CGL3, PPH3, LCCNS	601047	7q31.2
Lipoid adrenal hyperplasia, 201710 (3)	STAR	600617	8p11.23
Lipoma (3)	LPP	600700	3q27.3-q28
Lipoma, somatic (3)	MEN1	613733	11q13.1
Lipoprotein glomerulopathy, 611771 (3)	APOE, AD2, LPG, LDLCQ5	107741	19q13.32
Lipoprotein lipase deficiency, 238600 (3)	LPL, LIPD, HDLCQ11	609708	8p21.3
Liposarcoma (1)	LPSA, D19S381E	164953	19p13.2-q13.3
Lipoyltransferase 1 deficiency, 616299 (3)	LIPT1, LIPT1D	610284	2q11.2
Lissencephaly 1, 607432 (3)	PAFAH1B1, LIS1	601545	17p13.3
Lissencephaly 10, 618873 (3)	CEP85L, C6orf204, LIS10	618865	6q22.31
Lissencephaly 2 (Norman-Roberts type), 257320 (3)	RELN, RL, LIS2, ETL7	600514	7q22.1
Lissencephaly 3, 611603 (3)	TUBA1A, TUBA3, LIS3	602529	12q13.12
Lissencephaly 4 (with microcephaly), 614019 (3)	NDE1, NUDE, LIS4, MHAC	609449	16p13.11
Lissencephaly 5, 615191 (3)	LAMB1, LIS5	150240	7q31.1
Lissencephaly 6, with microcephaly, 616212 (3)	KATNB1, LIS6	602703	16q21
Lissencephaly 8, 617255 (3)	TMTC3, SMILE, LIS8	617218	12q21.32
Lissencephaly 9 with complex brainstem malformation, 618325 (3)	MACF1, ACF7, KIAA1251, LIS9	608271	1p34.3
Lissencephaly, X-linked 2, 300215 (3)	ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32	300382	Xp21.3
Lissencephaly, X-linked, 300067 (3)	DCX, DBCN, LISX	300121	Xq23
Liver failure, transient infantile, 613070 (3)	TRMU, MTO2	610230	22q13.31
Loeys-Dietz syndrome 1, 609192 (3)	TGFBR1, ALK5, AAT5, LDS1, MSSE	190181	9q22.33
Loeys-Dietz syndrome 2, 610168 (3)	TGFBR2, HNPCC6, AAT3, MFS2, LDS2	190182	3p24.1
Loeys-Dietz syndrome 3, 613795 (3)	SMAD3, MADH3, LDS3	603109	15q22.33
Loeys-Dietz syndrome 4, 614816 (3)	TGFB2, LDS4	190220	1q41
Loeys-Dietz syndrome 5, 615582 (3)	TGFB3, ARVD1, RNHF, LDS5	190230	14q24.3
Loeys-Dietz syndrome 6, 619656 (3)	SMAD2, MADH2, JV18, LDS6, CHTD8	601366	18q21.1
Long QT syndrome 1, 192500 (3)	KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2	607542	11p15.5-p15.4
Long QT syndrome 10, 611819 (3)	SCN4B, LQT10, ATFB17	608256	11q23.3
Long QT syndrome 12, 612955 (3)	SNTA1, SNT1, TACIP1, LQT12	601017	20q11.21
Long QT syndrome 13, 613485 (3)	KCNJ5, GIRK4, KATP1, LQT13	600734	11q24.3
Long QT syndrome 14, 616247 (3)	CALM1, PHKD, CPVT4, LQT14	114180	14q32.11
Long QT syndrome 15, 616249 (3)	CALM2, LQT15	114182	2p21
Long QT syndrome 16, 618782 (3)	CALM3, LQT16, CPVT6	114183	19q13.32
Long QT syndrome 2, 613688 (3)	KCNH2, LQT2, HERG, SQT1	152427	7q36.1
Long QT syndrome 3, 603830 (3)	SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2	600163	3p22.2
Long QT syndrome 4, 600919 (3)	ANK2, LQT4	106410	4q25-q26
Long QT syndrome 5, 613695 (3)	KCNE1, JLNS, LQT5, JLNS2	176261	21q22.12
Long QT syndrome 6, 613693 (3)	KCNE2, MIRP1, LQT6, ATFB4	603796	21q22.11
Long QT syndrome 8, 618447 (3)	CACNA1C, CACNL1A1, CCHL1A1, TS. LQT8	114205	12p13.33
Long QT syndrome 9, 611818 (3)	CAV3, LQT9, MPDT, RMD2	601253	3p25.3
Lopes-Maciel-Rodan syndrome, 617435 (3)	HTT, HD, IT15, LOMARS	613004	4p16.3
Lowe syndrome, 309000 (3)	OCRL, LOCR, OCRL1, NPHL2, DENT2	300535	Xq26.1
Lower urinary tract obstruction, congenital, 618612 (3)	BNC2, LUTO	608669	9p22.3-p22.2
Lowry-Wood syndrome, 226960 (3)	RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN, LWS	601428	2q14.2
Lujan-Fryns syndrome, 309520 (3)	MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX, HDKR	300188	Xq13.1
Lung cancer, somatic, 211980 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	190070	12p12.1
Lung cancer, somatic, 211980 (3)	MAP3K8, COT, EST, TPL2	191195	10p11.23
Lung cancer, somatic, 211980 (3)	PPP2R1B	603113	11q23.1
Lung cancer, somatic, 211980 (3)	SLC22A1L, BWSCR1A, IMPT1	602631	11p15.4
Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 (3)	NSMCE3, NDNL2, MAGEG1, LICS	608243	15q13.1
Luo-Schoch-Yamamoto syndrome, 619460 (3)	RNF2, RING2, RING1B, HIPI3, DING, BAP1, LUSYAM	608985	1q25.3
Luscan-Lumish syndrome, 616831 (3)	SETD2, SET2, HYPB, HBP231, KIAA1732, LLS	612778	3p21.31
Luteinizing hormone resistance, female, 238320 (3)	LHCGR, LHR, LCGR	152790	2p16.3
Lymphangioleiomyomatosis, 606690 (3)	TSC1, LAM	605284	9q34.13
Lymphangioleiomyomatosis, somatic, 606690 (3)	TSC2, LAM	191092	16p13.3
Lymphatic malformation 1, 153100 (3)	FLT4, VEGFR3, PCL, LMPHM1, CHTD7	136352	5q35.3
Lymphatic malformation 10, 619369 (3)	ANGPT2, ANG2, LMPHM10	601922	8p23.1
Lymphatic malformation 11, 619401 (3)	TIE, JTK14, TIE1, LMPHM11	600222	1p34.2
Lymphatic malformation 2 (2)	LMPHM2	611944	6q16.2-q22.1
Lymphatic malformation 3, 613480 (3)	GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPHM3	608803	1q42.13
Lymphatic malformation 4, 615907 (3)	VEGFC, VRP, LMPHM4	601528	4q34.3
Lymphatic malformation 6, 616843 (3)	PIEZO1, FAM38A, MIB, DHS, LMPHM6	611184	16q24.3
Lymphatic malformation 7, 617300 (3)	EPHB4, HTK, MYK1, HFASD, CMAVM2, LMPHM7	600011	7q22.1
Lymphatic malformation 9, 619319 (3)	CELSR1, LMPHM9	604523	22q13.31
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3)	FOXC2, FKHL14, MFH1	602402	16q24.1
Lymphedema-distichiasis syndrome, 153400 (3)	FOXC2, FKHL14, MFH1	602402	16q24.1
Lymphocytic leukemia, acute T-cell (3)	RAP1GDS1	179502	4q23
Lymphoma, B-cell non-Hodgkin, somatic (3)	ATM, ATA, AT1	607585	11q22.3
Lymphoma, MALT, somatic, 137245 (3)	BCL10, IMD37	603517	1p22.3
Lymphoma, mantle cell, somatic (3)	ATM, ATA, AT1	607585	11q22.3
Lymphoma, non-Hodgkin, 605027 (3)	PRF1, HPLH2, FLH2	170280	10q22.1
Lymphoma, non-Hodgkin, somatic, 605027 (3)	CASP10, MCH4, ALPS2	601762	2q33.1
Lymphoma, non-Hodgkin, somatic, 605027 (3)	RAD54B	604289	8q22.1
Lymphoma, non-Hodgkin, somatic, 605027 (3)	RAD54L, HR54, HRAD54	603615	1p34.1
Lymphoma, somatic (3)	MAD1L1, TXBP181	602686	7p22.3
Lymphoproliferative syndrome 1, 613011 (3)	ITK, EMT, LPFS1	186973	5q33.3
Lymphoproliferative syndrome 2, 615122 (3)	CD27, TNFRSF7, S152. LPFS2	186711	12p13.31
Lymphoproliferative syndrome 3, 618261 (3)	CD70, TNFSF7, CD27L, LPFS3	602840	19p13.3
Lymphoproliferative syndrome, X-linked, 1, 308240 (3)	SH2D1A, LYP, IMD5, XLP, XLPD1	300490	Xq25
Lymphoproliferative syndrome, X-linked, 2, 300635 (3)	XIAP, BIRC4, API3, XLP2	300079	Xq25
Lysinuric protein intolerance, 222700 (3)	SLC7A7, LPI	603593	14q11.2
Lysyl hydroxylase 3 deficiency, 612394 (3)	PLOD3, LH3	603066	7q22.1
MASA syndrome, 303350 (3)	L1CAM, CAML1, HSAS1, MASA, SPG1	308840	Xq28
MASP2 deficiency, 613791 (3)	MASP2	605102	1p36.22
MASS syndrome, 604308 (3)	FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS	134797	15q21.1
MEDNIK syndrome, 609313 (3)	AP1S1, CLAPS1, AP19, MEDNIK	603531	7q22.1
MEHMO syndrome, 300148 (3)	EIF2S3, EIF2G, MEHMO, MRXSBRK	300161	Xp22.11
MEND syndrome, 300960 (3)	EBP, CDPX2, CPXD, CPX, MEND	300205	Xp11.23
MHC class II deficiency, complementation group B, 209920 (3)	RFXANK	603200	19p13.11
MIRAGE syndrome, 617053 (3)	SAMD9, NFTC, MIRAGE, M7MLS2	610456	7q21.2
MODY, type I, 125850 (3)	HNF4A, TCF14, MODY1, FRTS4	600281	20q13.12
MODY, type II, 125851 (3)	GCK, HHF3, PNDM1	138079	7p13
MODY, type III, 600496 (3)	HNF1A, TCF1, MODY3, IDDM20	142410	12q24.31
MODY, type IV, 606392 (3)	PDX1, IPF1, MODY4, PAGEN1	600733	13q12.2
Machado-Joseph disease, 109150 (3)	ATXN3, MJD, SCA3	607047	14q32.12
Macrocephaly, acquired, with impaired intellectual development, 618286 (3)	NFIB, MACID	600728	9p23-p22.3
Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)	RIN2, MACS	610222	20p11.23
Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)	HERC1, MDFPMR	605109	15q22.31
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, 619769 (3)	ZBTB7A, FBI1, LRF, MNDLFH	605878	19p13.3
Macrocephaly/autism syndrome, 605309 (3)	PTEN, MMAC1, GLM2, CWS1	601728	10q23.31
Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3)	TBC1D7, PIG51, TBC7, MGCPH	612655	6p24.1
Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)	RPS14, EMTB	130620	5q33.1
Macrodactyly, somatic, 155500 (3), Cerebral cavernous malformations 4, somatic, 619538 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
Macroglobulinemia, Waldenstrom, somatic, 153600 (3)	MYD88, MYD88D, IMD68	602170	3p22.2
Macrophthalmia, colobomatous, with microcornea (4)	MACOM	602499	2p22.2
Macrostomia (2)	MACST	613545	1p34-p32
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)	MYH9, MHA, FTNS, DFNA17, BDPLT6, MATINS	160775	22q12.3
Macrothrombocytopenia, isolated, 1, autosomal dominant, 613112 (3)	TUBB1, MACTHC1	612901	20q13.32
Macrothrombocytopenia, isolated, 2, autosomal dominant, 619840 (3)	TUBA8, TUBAL2, MACTHC2	605742	22q11.21
Macular corneal dystrophy, 217800 (3)	CHST6, MCDC1	605294	16q23.1
Macular degeneration, X-linked atrophic, 300834 (3)	RPGR, RP3, CRD, RP15, COD1, CORDX1	312610	Xp11.4
Macular degeneration, age-related, 10 (2)	ARMD10	611488	9q32-q33
Macular degeneration, age-related, 3, 608895 (3)	FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD, CMT1H	604580	14q32.12
Macular degeneration, early-onset, 616118 (3)	FBN2, CCA, EOMD	612570	5q23.3
Macular dystrophy 1, North Carolina type, 136550 (3)	DHS6S1, MCDR1, PBCRA	616842	6q16.2
Macular dystrophy with central cone involvement, 616170 (3)	MFSD8, MGC33302, CLN7, CCMD	611124	4q28.2
Macular dystrophy, butterfly-shaped pigmentary, 2 (2)	MDBS2	608970	5q21.3-q33.2
Macular dystrophy, dominant cystoid (2)	MDDC	153880	7p21-p15
Macular dystrophy, patterned, 1, 169150 (3)	PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1	179605	6p21.1
Macular dystrophy, patterned, 2, 608970 (3)	CTNNA1, MDPT2	116805	5q31.2
Macular dystrophy, retinal, 2, 608051 (3)	PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4	604365	4p15.32
Macular dystrophy, retinal, 3 (2)	MCDR3	608850	5p15.33-p13.1
Macular dystrophy, vitelliform, 2, 153700 (3)	BEST1, VMD2, ARB, RP50	607854	11q12.3
Macular dystrophy, vitelliform, 3, 608161 (3)	PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1	179605	6p21.1
Macular dystrophy, vitelliform, 4, 616151 (3)	IMPG1, IPM150, VMD4, RP91	602870	6q14.1
Macular dystrophy, vitelliform, 5, 616152 (3)	IMPG2, IPM200, RP56, VMD5	607056	3q12.3
Mahvash disease, 619290 (3)	GCGR, MVAH	138033	17q25.3
Majeed syndrome, 609628 (3)	LPIN2	605519	18p11.31
Major affective disorder 4 (2)	MAFD4, BPAD	611247	16p12
Major depressive disorder 1, 608516 (2)	MDD1	608520	12q22-q23.2
Major depressive disorder 2, 608516 (2)	MDD2	608691	15q25.3-q26.2
Malan syndrome, 614753 (3)	NFIX, NF1A, MALNS, MRSHSS	164005	19p13.13
Malignant fibrous histiocytoma (2)	MFHAS1, MASL1	605352	8p23.1
Malonyl-CoA decarboxylase deficiency, 248360 (3)	MLYCD, MCD	606761	16q23.3
Malouf syndrome, 212112 (3)	LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS	150330	1q22
Mammary-digital-nail syndrome (2)	MDNS	613689	22q12.3-q13.1
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)	POLD1, CRCS10, MDPL	174761	19q13.33
Mandibuloacral dysplasia progeroid syndrome, 619127 (3)	MTX2, MDPS	608555	2q31.1
Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)	ZMPSTE24, FACE1, STE24, MADB, RSDM1	606480	1p34.2
Mandibuloacral dysplasia, 248370 (3)	LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS	150330	1q22
Mandibulofacial dysostosis with alopecia, 616367 (3)	EDNRA, MFDA	131243	4q31.22-q31.23
Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)	EFTUD2, KIAA0031, MFDGA	603892	17q21.31
Manitoba oculotrichoanal syndrome, 248450 (3)	FREM1, C9orf154, BNAR, MOTA, TRIGNO2	608944	9p22.3
Mannosidosis, alpha-, types I and II, 248500 (3)	MAN2B1, MANB	609458	19p13.13
Mannosidosis, beta, 248510 (3)	MANBA, MANB1	609489	4q24
Maple syrup urine disease, type II, 248600 (3)	DBT, BCATE2	248610	1p21.2
Maple syrup urine disease, type Ia, 248600 (3)	BCKDHA, MSUD1	608348	19q13.2
Maple syrup urine disease, type Ib, 248600 (3)	BCKDHB, E1B	248611	6q14.1
Marbach-Rustad progeroid syndrome, 619322 (3)	LEMD2, NET25, CTRCT42, MARUPS	616312	6p21.31
Marbach-Schaaf neurodevelopmental syndrome, 619680 (3)	PRKAR1B, MASNS	176911	7p22.3
Marfan lipodystrophy syndrome, 616914 (3)	FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS	134797	15q21.1
Marfan syndrome, 154700 (3)	FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS	134797	15q21.1
Marinesco-Sjogren syndrome, 248800 (3)	SIL1, BAP, MSS	608005	5q31.2
Marshall syndrome, 154780 (3)	COL11A1, STL2, DFNA37	120280	1p21.1
Marshall-Smith syndrome, 602535 (3)	NFIX, NF1A, MALNS, MRSHSS	164005	19p13.13
Martin-Probst syndrome (2)	MRXSMP	300519	Xq13-q21
Martsolf syndrome 1, 212720 (3)	RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2, MARTS1	609275	1q41
Martsolf syndrome 2, 619420 (3)	RAB3GAP1, WARBM1, P130, MARTS2	602536	2q21.3
Mast syndrome, 248900 (3)	ACP33, MAST, SPG21	608181	15q22.31
Mastocytosis, cutaneous, 154800 (3)	KIT, PBT, MASTC	164920	4q12
Mastocytosis, systemic, somatic, 154800 (3)	KIT, PBT, MASTC	164920	4q12
Maturity-onset diabetes of the young 6, 606394 (3)	NEUROD1, T2D	601724	2q31.3
Maturity-onset diabetes of the young, type 10, 613370 (3)	INS, MODY10, IDDM2, PNDM4	176730	11p15.5
Maturity-onset diabetes of the young, type 11, 613375 (3)	BLK, MODY11	191305	8p23.1
Maturity-onset diabetes of the young, type 13, 616329 (3)	KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13, PNDM2	600937	11p15.1
Maturity-onset diabetes of the young, type IX, 612225 (3)	PAX4, MODY9, KPD	167413	7q32.1
Maturity-onset diabetes of the young, type VII, 610508 (3)	KLF11, TIEG2, FKLF1, FKLF, MODY7	603301	2p25.1
Maturity-onset diabetes of the young, type VIII, 609812 (3)	CEL, BSSL, CELL, MODY8	114840	9q34.13
McArdle disease, 232600 (3)	PYGM	608455	11q13.1
McCune-Albright syndrome, somatic, mosaic 174800 (3)	GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3	139320	20q13.32
McKusick-Kaufman syndrome, 236700 (3)	MKKS, HMCS, KMS, MKS, BBS6	604896	20p12.2
McLeod syndrome with or without chronic granulomatous disease, 300842 (3)	XK, MCLDS	314850	Xp21.1
Meacham syndrome, 608978 (3)	WT1, NPHS4	607102	11p13
Mean platelet volume QTL4 (2)	MPVQTL4	614644	6p21.3-p21.2
Mean platelet volume QTL5 (2)	MPVQTL5	614645	6q23.3
Mean platelet volume QTL6 (2)	MPVQTL6	614646	7q22.3
Meckel syndrome 1, 249000 (3)	MKS1, MKS, BBS13, JBTS28	609883	17q22
Meckel syndrome 11, 615397 (3)	TMEM231, JBTS20, MKS11	614949	16q23.1
Meckel syndrome 13, 617562 (3)	TMEM107, MKS13, JBTS29	616183	17p13.1
Meckel syndrome 2, 603194 (3)	TMEM216, JBTS2, CORS2, MKS2	613277	11q12.2
Meckel syndrome 3, 607361 (3)	TMEM67, MKS3, JBTS6, NPHP11	609884	8q22.1
Meckel syndrome 4, 611134 (3)	CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14	610142	12q21.32
Meckel syndrome 5, 611561 (3)	RPGRIP1L, KIAA1005, JBTS7, MKS5, COACH3	610937	16q12.2
Meckel syndrome 6, 612284 (3)	CC2D2A, KIAA1345, MKS6, COACH2, RP93	612013	4p15.32
Meckel syndrome 7, 267010 (3)	NPHP3, NPH3, RHPD1, MKS7	608002	3q22.1
Meconium ileus, 614665 (3)	GUCY2C, GUC2C, DIAR6, MECIL	601330	12p12.3
Medullary thyroid carcinoma, 155240 (3)	RET, MEN2A, HSCR1	164761	10q11.21
Medulloblastoma, 155255 (3)	ELP1, IKBKAP, IKAP	603722	9q31.3
Medulloblastoma, desmoplastic, 155255 (3)	SUFU, SUFUXL, SUFUH, JBTS32	607035	10q24.32
Medulloblastoma, somatic, 155255 (3)	CTNNB1, NEDSDV, EVR7	116806	3p22.1
Medulloblastoma, somatic, 155255 (3)	PTCH2	603673	1p34.1
Meesmann corneal dystrophy 1, 122100 (3)	KRT12, MECD1	601687	17q21.2
Meesmann corneal dystrophy 2, 618767 (3)	KRT3, MECD2	148043	12q13.13
Meester-Loeys syndrome, 300989 (3)	BGN, SEMDX, MRLS	301870	Xq28
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)	MAST1, SAST, KIAA0973, MCCCHCM	612256	19p13.13
Megabladder, congenital, 618719 (3)	MYOCD, MGBL	606127	17p12
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, 249210 (3)	MYLK, MLCK, AAT7, MMIHS1	600922	3q21.1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, 619351 (3)	MYH11, AAT4, FAA4, VSCM2	160745	16p13.11
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, 619431 (3)	ACTG2, ACTA3, VSCM1, MMIHS5	102545	2p13.1
Megakaryoblastic leukemia, acute (2)	RBM15, SPEN, OTT	606077	1p13.3
Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)	HEPACAM, MLC2A, MLC2B	611642	11q24.2
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)	HEPACAM, MLC2A, MLC2B	611642	11q24.2
Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)	MLC1, LVM, VL	605908	22q13.33
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)	PIK3R2, MPPH1	603157	19p13.11
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 (3)	AKT3, PKBG, MPPH2	611223	1q43-q44
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)	CCND2, MPPH3	123833	12p13.32
Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3)	DHFR	126060	5q14.1
Megalocornea 1, X-linked 309300 (3)	CHRDL1, VOPT, MGC1	300350	Xq23
Meier-Gorlin syndrome 1, 224690 (3)	ORC1, ORC1L	601902	1p32.3
Meier-Gorlin syndrome 2, 613800 (3)	ORC4, ORC4L	603056	2q23.1
Meier-Gorlin syndrome 3, 613803 (3)	ORC6, ORC6L	607213	16q11.2
Meier-Gorlin syndrome 4, 613804 (3)	CDT1	605525	16q24.3
Meier-Gorlin syndrome 6, 616835 (3)	GMNN, MGORS6	602842	6p22.3
Meier-Gorlin syndrome 7, 617063 (3)	CDC45L, CDC45L2, MGORS7	603465	22q11.21
Melanocytic nevus syndrome, congenital, somatic, 137550 (3)	NRAS, ALPS4, NS6, CMNS, NCMS	164790	1p13.2
Melanoma, malignant, somatic, 155600 (3)	BRAF, NS7	164757	7q34
Melanoma, malignant, somatic, 155600 (3)	STK11, PJS, LKB1	602216	19p13.3
Meleda disease, 248300 (3)	SLURP1, MDM	606119	8q24.3
Melnick-Needles syndrome, 309350 (3)	FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2	300017	Xq28
Melorheostosis, isolated, somatic mosaic, 155950 (3)	MAP2K1, PRKMK1, MKK1, MEK1, CFC3, MEL	176872	15q22.31
Meningioma, 607174 (3)	MN1, MGCR, CEBALID	156100	22q12.1
Meningioma, NF2-related, somatic, 607174 (3)	NF2	607379	22q12.2
Meningioma, SIS-related, 607174 (3)	PDGFB, SIS, IBGC5	190040	22q13.1
Meningioma, radiation-induced (2)	MNRI	606190	1p11
Menke-Hennekam syndrome 1, 618332 (3)	CREBBP, CBP, RSTS1, MKHK1	600140	16p13.3
Menke-Hennekam syndrome 2, 618333 (3)	EP300, RSTS2, MKHK2	602700	22q13.2
Menkes disease, 309400 (3)	ATP7A, MNK, MK, OHS, SMAX3	300011	Xq21.1
Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)	SOBP, JXC1, MRAMS	613667	6q21
Mental retardation, severe, with spasticity and tapetoretinal degeneration (2)	MRST	602685	15q24
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)	INPP5E, MORMS, JBTS1, CORS1	613037	9q34.3
Mephenytoin poor metabolizer, 609535 (3)	CYP2C, CYP2C19	124020	10q23.33
Mesomelia-synostoses syndrome (4)	DEL8q13, C8DELq13	600383	8q13
Mesomelic dysplasia, Kantaputra type (2)	MMDK, MDK	156232	2q24-q32
Mesothelioma, somatic, 156240 (3)	WT1, NPHS4	607102	11p13
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 (3)	SLC25A42, MECREN	610823	19p13.11
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3)	TANGO2, C22orf25, MECRCN	616830	22q11.21
Metacarpal 4-5 fusion, 309630 (3)	FGF16, MF4	300827	Xq21.1
Metachondromatosis, 156250 (3)	PTPN11, PTP2C, SHP2, NS1, JMML, METCDS	176876	12q24.13
Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)	PSAP, SAP1, PSAPD, PARK24	176801	10q22.1
Metachromatic leukodystrophy, 250100 (3)	ARSA	607574	22q13.33
Metaphyseal anadysplasia 1, 602111 (3)	MMP13, CLG3, MANDP1, MDST	600108	11q22.2
Metaphyseal anadysplasia 2, 613073 (3)	MMP9, CLG4B, MANDP2	120361	20q13.12
Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3)	PTH1R, PTHR1, PTHR, PFE, EKNS	168468	3p21.31
Metaphyseal chondrodysplasia, Schmid type, 156500 (3)	COL10A1	120110	6q22.1
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3)	RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD	600211	6p21.1
Metaphyseal dysplasia without hypotrichosis, 250460 (3)	RMRP, RMRPR, CHH	157660	9p13.3
Metaphyseal dysplasia, Spahr type, 250400 (3)	MMP13, CLG3, MANDP1, MDST	600108	11q22.2
Metatropic dysplasia, 156530 (3)	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3	605427	12q24.11
Methemoglobinemia and ambiguous genitalia, 250790 (3)	CYB5A, MCB5, METAG	613218	18q22.3
Methemoglobinemia, alpha type, 617973 (3)	HBA1, HBH, METHBA, ECYT7	141800	16p13.3
Methemoglobinemia, beta type, 617971 (3)	HBB, ECYT6	141900	11p15.4
Methemoglobinemia, type I, 250800 (3)	CYB5R3, DIA1, B5R	613213	22q13.2
Methemoglobinemia, type II, 250800 (3)	CYB5R3, DIA1, B5R	613213	22q13.2
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)	MAT1A, MATA1, SAMS1	610550	10q22.3
Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3)	ALDH6A1, MMSDH	603178	14q24.3
Methylmalonic aciduria and homocysteinemia, cblX type, 309541 (3)	HCFC1, HCF1, MAHCX, XLID3	300019	Xq28
Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)	MMACHC	609831	1p34.1
Methylmalonic aciduria and homocystinuria, cblC type, digenic, 277400 (3)	PRDX1, PRXI, PAGA, NKEFA	176763	1p34.1
Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)	MMADHC, C2orf25	611935	2q23.2
Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)	LMBRD1, LMBD1, NESI, MAHCF	612625	6q13
Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)	ABCD4, PXMP1L, P79R, PMP69, MAHCJ	603214	14q24.3
Methylmalonic aciduria, cblD type, variant 2, 277410 (3)	MMADHC, C2orf25	611935	2q23.2
Methylmalonic aciduria, mut(0) type, 251000 (3)	MMUT, MUT, MCM	609058	6p12.3
Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3)	CD320, 8D6, 8D6A, TCBLR	606475	19p13.2
Methylmalonic aciduria, vitamin B12-responsive, cblA type, 251100 (3)	MMAA	607481	4q31.21
Methylmalonic aciduria, vitamin B12-responsive, cblB type, 251110 (3)	MMAB	607568	12q24.11
Methylmalonyl-CoA epimerase deficiency, 251120 (3)	MCEE	608419	2p13.3
Mevalonic aciduria, 610377 (3)	MVK, MVLK, POROK3	251170	12q24.11
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, 618564 (3)	COL4A1, BSVD1, HANAC, ICH, BSVD, RATOR, PADMAL	120130	13q34
Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)	RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN, LWS	601428	2q14.2
Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)	PCNT, PCNT2, KEN, SCKL4, MOPD2	605925	21q22.3
Microcephaly 1, primary, autosomal recessive, 251200 (3)	MCPH1	607117	8p23.1
Microcephaly 10, primary, autosomal recessive, 615095 (3)	ZNF335, NIF1, NIF2, MCPH10	610827	20q13.12
Microcephaly 14, primary, autosomal recessive, 616402 (3)	SASS6, SAS6, MCPH14	609321	1p21.2
Microcephaly 16, primary, autosomal recessive, 616681 (3)	ANKLE2, LEM4, KIAA0692, MCPH16	616062	12q24.33
Microcephaly 17, primary, autosomal recessive, 617090 (3)	CIT, STK21, CRIK, MCPH17	605629	12q24.23
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)	WDR62, C19orf14, MCPH2	613583	19q13.12
Microcephaly 20, primary, autosomal recessive, 617914 (3)	KIF14, KIAA0042, MKS12, MCPH20	611279	1q32.1
Microcephaly 22, primary, autosomal recessive, 617984 (3)	NCAPD3, CAPD3, KIAA0056, MCPH22	609276	11q25
Microcephaly 26, primary, autosomal dominant, 619179 (3)	LMNB1, ADLD, MCPH26	150340	5q23.2
Microcephaly 27, primary, autosomal dominant, 619180 (3)	LMNB2, LMN2, EPM9, MCPH27	150341	19p13.3
Microcephaly 3, primary, autosomal recessive, 604804 (3)	CDK5RAP2, KIAA1633, MCPH3	608201	9q33.2
Microcephaly 4, primary, autosomal recessive, 604321 (3)	KNL1, CASC5, AF15Q14, KIAA1570, D40, MCPH4	609173	15q15.1
Microcephaly 5, primary, autosomal recessive, 608716 (3)	ASPM, MCPH5	605481	1q31.3
Microcephaly 6, primary, autosomal recessive, 608393 (3)	CENPJ, CPAP, MCPH6, SCKL4	609279	13q12.12-q12.13
Microcephaly 7, primary, autosomal recessive, 612703 (3)	STIL, SIL, MCPH7	181590	1p33
Microcephaly 8, primary, autosomal recessive, 614673 (3)	CEP135, KIAA0635, MCPH8	611423	4q12
Microcephaly 9, primary, autosomal recessive, 614852 (3)	CEP152, KIAA0912, MCPH9, SCKL5	613529	15q21.1
Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)	TUBGCP6, GCP6, KIAA1669, MCCRP1	610053	22q13.33
Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)	PLK4, STK18, SAK, MCCRP2	605031	4q28.1
Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)	TUBGCP4, GCP4, MCCRP3	609610	15q15.3
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3)	KIF11, KNSL1, MCLMR	148760	10q23.33
Microcephaly, Amish type, 607196 (3)	SLC25A19, DNC, MUP1, MCPHA, THMD3, THMD4	606521	17q25.1
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum, 618284 (3)	KCNA4, KCNA8, MCIDDS	176266	11p14.1
Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3)	MSMO1, SC4MOL, ERG25, MCCPD	607545	4q32.3
Microcephaly, developmental delay, and brittle hair syndrome, 618891 (3)	CARS1, CARS, MDBH	123859	11p15.4
Microcephaly, epilepsy, and diabetes syndrome 2, 619278 (3)	YIPF5, SMAP5, YIP1A, MEDS2	611483	5q31.3
Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)	IER3IP1, MEDS	609382	18q21.1
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)	CTU2, C16orf84, NCS2, MFRG	617057	16q24.3
Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3)	WDR4, MIGSB, GAMOS6	605924	21q22.3
Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3)	TOP3A, MGRISCE2, PEOB5	601243	17p11.2
Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)	MED17, CRSP6, CRSP77, TRAP80, DRIP80	603810	11q21
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)	QARS1, QARS, GLNRS, MSCCA	603727	3p21.31
Microcephaly, seizures, and developmental delay, 613402 (3)	PNKP, PNK, MCSZ, AOA4, CMT2B2	605610	19q13.33
Microcephaly, short stature, and impaired glucose metabolism 1, 616033 (3)	TRMT10A, RG9MTD2, MSSGM1	616013	4q23
Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3)	PPP1R15B, CREP, MSSGM2	613257	1q32.1
Microcephaly, short stature, and limb abnormalities, 617604 (3)	DONSON, C21orf60, MISSLA, MIMIS	611428	21q22.11
Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)	RTTN, MSSP	610436	18q22.2
Microcephaly-capillary malformation syndrome, 614261 (3)	STAMBP, AMSH, MICCAP	606247	2p13.1
Microcephaly-micromelia syndrome, 251230 (3)	DONSON, C21orf60, MISSLA, MIMIS	611428	21q22.11
Microcoria, congenital (4)	MCOR, C13DELq32, DEL13q32	156600	13q32
Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)	ADAMTS18, MMCAT	607512	16q23.1
Microphthalmia with cataract 1 (2)	MCOPCT1	156850	16p13.3
Microphthalmia with coloboma 1 (2)	MCOPCB1	300345	Chr.X
Microphthalmia with coloboma 2 (2)	MCOPCB2	605738	15q12-q15
Microphthalmia with coloboma 3, 610092 (3)	CHX10, HOX10, MCOP2, MCOPCB3	142993	14q24.3
Microphthalmia with coloboma 5, 611638 (3)	SHH, HPE3, HLP3, SMMCI, MCOPCB5	600725	7q36.3
Microphthalmia with coloboma 6, digenic, 613703 (3)	GDF6, MCOP4, KFS1, MCOPCB6, LCA17, SYNS4	601147	8q22.1
Microphthalmia with limb anomalies, 206920 (3)	SMOC1, OAS	608488	14q24.2
Microphthalmia, isolated 1 (2)	MCOP1	251600	14q32
Microphthalmia, isolated 2, 610093 (3)	CHX10, HOX10, MCOP2, MCOPCB3	142993	14q24.3
Microphthalmia, isolated 3, 611038 (3)	RAX, RX, MCOP3	601881	18q21.32
Microphthalmia, isolated 4, 613094 (3)	GDF6, MCOP4, KFS1, MCOPCB6, LCA17, SYNS4	601147	8q22.1
Microphthalmia, isolated 5, 611040 (3)	MFRP, MCOP5, NNO2	606227	11q23.3
Microphthalmia, isolated 6, 613517 (3)	PRSS56, MCOP6	613858	2q37.1
Microphthalmia, isolated 7, 613704 (3)	GDF3, KFS3, MCOPCB6, MCOP7	606522	12p13.31
Microphthalmia, isolated 8, 615113 (3)	ALDH1A3, ALDH6, MCOP8	600463	15q26.3
Microphthalmia, isolated, with coloboma 10, 616428 (3)	RBP4, RDCCAS, MCOPCB10	180250	10q23.33
Microphthalmia, isolated, with coloboma 6, 613703 (3)	GDF3, KFS3, MCOPCB6, MCOP7	606522	12p13.31
Microphthalmia, isolated, with coloboma 7, 614497 (3)	ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2	605452	2q35
Microphthalmia, isolated, with coloboma 8, 601186 (3)	STRA6, MCOPS9, MCOPCB8	610745	15q24.1
Microphthalmia, syndromic 1, 309800 (3)	NAA10, ARD1A, ARD1, TE2, NATD, OGDNS, MCOPS1	300013	Xq28
Microphthalmia, syndromic 12, 615524 (3)	RARB, HAP, MCOPS12	180220	3p24.2
Microphthalmia, syndromic 15, 615145 (3)	TENM3, ODZ3, TNM3, KIAA1455, MCOPCB9, MCOPS15	610083	4q34.3-q35.1
Microphthalmia, syndromic 2, 300166 (3)	BCOR, KIAA1575, MCOPS2, MAA2, ANOP2	300485	Xp11.4
Microphthalmia, syndromic 3, 206900 (3)	SOX2, MCOPS3	184429	3q26.33
Microphthalmia, syndromic 5, 610125 (3)	OTX2, MCOPS5, CPHD6	600037	14q22.3
Microphthalmia, syndromic 6, 607932 (3)	BMP4, BMP2B1, BMP2B, MCOPS6, OFC11	112262	14q22.2
Microphthalmia, syndromic 8 (2)	MCOPS8, MMEP	601349	6q21
Microphthalmia, syndromic 9, 601186 (3)	STRA6, MCOPS9, MCOPCB8	610745	15q24.1
Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 (3)	MAB21L2, MCSKS14	604357	4q31.3
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)	LTBP2, LTBP3, GLC3D, MSPKA, WMS3	602091	14q24.3
Microtia with nasolacrimal duct imperforation and eye coloboma (4)	MNDEC	611863	4p16-p15
Microtia with or without hearing impairment (AD), 612290 (3)	HOXA2, MCOHI	604685	7p15.2
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 (3)	AMMECR1, MFHIEN	300195	Xq23
Migraine, familial basilar, 602481 (3)	ATP1A2, FHM2, MHP2, FARIMPD, DEE98	182340	1q23.2
Migraine, familial hemiplegic, 1, 141500 (3)	CACNA1A, CACNL1A4, SCA6, DEE42	601011	19p13.13
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)	CACNA1A, CACNL1A4, SCA6, DEE42	601011	19p13.13
Migraine, familial hemiplegic, 2, 602481 (3)	ATP1A2, FHM2, MHP2, FARIMPD, DEE98	182340	1q23.2
Migraine, familial hemiplegic, 3, 609634 (3)	SCN1A, GEFSP2, SMEI, FEB3A, DEE6A, DRVT, FHM3, DEE6B	182389	2q24.3
Miller syndrome, 263750 (3)	DHODH, URA1, POADS	126064	16q22.2
Miller-Dieker lissencephaly syndrome (4)	MDLS, MDS, MDCR, DEL17p13.3, C17DELp13.3	247200	17p13.3
Minicore myopathy with external ophthalmoplegia, 255320 (3)	RYR1, MHS, CCO, KDS	180901	19q13.2
Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)	DCC, MRMV1, HGPPS2	120470	18q21.2
Mirror movements 2, 614508 (3)	RAD51, RECA, MRMV2, FANCR	179617	15q15.1
Mirror movements 4, 618264 (3)	NTN1, NTN1L, MRMV4	601614	17p13.1
Mismatch repair cancer syndrome 1, 276300 (3)	MLH1, COCA2, HNPCC2, MMRCS1	120436	3p22.2
Mismatch repair cancer syndrome 2, 619096 (3)	MSH2, COCA1, FCC1, HNPCC1, MMRCS2	609309	2p21-p16.3
Mismatch repair cancer syndrome 3, 619097 (3)	MSH6, GTBP, HNPCC5, MMRCS3	600678	2p16.3
Mismatch repair cancer syndrome 4, 619101 (3)	PMS2, PMSL2, HNPCC4, MMRCS4	600259	7p22.1
Mitchell syndrome, 618960 (3)	ACOX1, ACOX, SCOX, MITCH	609751	17q25.1
Mitchell-Riley syndrome, 615710 (3)	RFX6, RFXDC1, MTCHRS	612659	6q22.1
Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)	TYMP, ECGF1, MNGIE, PDECGF, MEDPS1, MTDPS1	131222	22q13.33
Mitochondrial DNA depletion syndrome 11, 615084 (3)	MGME1, C20orf72, MTDPS11	615076	20p11.23
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3)	SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12A, PEOA2	103220	4q35.1
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3)	SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12A, PEOA2	103220	4q35.1
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3)	FBXL4, FBL4, MTDPS13	605654	6q16.1-q16.2
Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)	TK2, MTDPS2, PEOB3	188250	16q21
Mitochondrial DNA depletion syndrome 20 (MNGIE type), 619780 (3)	LIG3, MTDPS20	600940	17q12
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)	DGUOK, DGK, MTDPS3, PEOB4, NCPH1	601465	2p13.1
Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)	POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS	174763	15q26.1
Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)	POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS	174763	15q26.1
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)	SUCLA2, MTDPS5	603921	13q14.2
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)	MPV17, MTDPS6, CMT2EE	137960	2p23.3
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)	TWNK, C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5	606075	10q24.31
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)	RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B, RCDFRD	604712	8q22.3
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)	RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B, RCDFRD	604712	8q22.3
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)	SUCLG1, SUCLA1, MTDPS9	611224	2p11.2
Mitochondrial complex I deficiency, nuclear type 1, 252010 (3)	NDUFS4, AQDQ, MC1DN1	602694	5q11.2
Mitochondrial complex I deficiency, nuclear type 10, 618233 (3)	NDUFAF2, NDUFA12L, MMTN, B17.2L, MC1DN10	609653	5q12.1
Mitochondrial complex I deficiency, nuclear type 11, 618234 (3)	NDUFAF1, CIA30, CGI65, MC1DN11	606934	15q15.1
Mitochondrial complex I deficiency, nuclear type 12, 301020 (3)	NDUFA1, MWFE, MC1DN12	300078	Xq24
Mitochondrial complex I deficiency, nuclear type 13, 618235 (3)	NDUFA2, MC1DN13	602137	5q31.3
Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)	NDUFA11, MC1DN14	612638	19p13.3
Mitochondrial complex I deficiency, nuclear type 15, 618237 (3)	NDUFAF4, HRPAP20, C6orf66, MC1DN15	611776	6q16.1
Mitochondrial complex I deficiency, nuclear type 16, 618238 (3)	NDUFAF5, C20orf7, MC1DN16	612360	20p12.1
Mitochondrial complex I deficiency, nuclear type 17, 618239 (3)	NDUFAF6, C8orf38, MC1DN17, FRTS5	612392	8q22.1
Mitochondrial complex I deficiency, nuclear type 18, 618240 (3)	NDUFAF3, MC1DN18	612911	3p21.31
Mitochondrial complex I deficiency, nuclear type 19, 618241 (3)	FOXRED1, MC1DN19	613622	11q24.2
Mitochondrial complex I deficiency, nuclear type 2, 618222 (3)	NDUFS8, MC1DN2	602141	11q13.2
Mitochondrial complex I deficiency, nuclear type 20, 611126 (3)	ACAD9, MC1DN20	611103	3q21.3
Mitochondrial complex I deficiency, nuclear type 21, 618242 (3)	NUBPL, IND1, MC1DN21	613621	14q12
Mitochondrial complex I deficiency, nuclear type 22, 618243 (3)	NDUFA10, MC1DN22	603835	2q37.3
Mitochondrial complex I deficiency, nuclear type 23, 618244 (3)	NDUFA12, MC1DN23	614530	12q22
Mitochondrial complex I deficiency, nuclear type 25, 618246 (3)	NDUFB3, MC1DN25	603839	2q33.1
Mitochondrial complex I deficiency, nuclear type 26, 618247 (3)	NDUFA9, MC1DN26	603834	12p13.32
Mitochondrial complex I deficiency, nuclear type 27, 618248 (3)	MTFMT, COXPD15, MC1DN27	611766	15q22.31
Mitochondrial complex I deficiency, nuclear type 29, 618250 (3)	TMEM126B, MC1DN29	615533	11q14.1
Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)	NDUFS7, PSST, MC1DN3	601825	19p13.3
Mitochondrial complex I deficiency, nuclear type 31, 618251 (3)	TIMMDC1, C3orf1, MC1DN31	615534	3q13.33
Mitochondrial complex I deficiency, nuclear type 32, 618252 (3)	NDUFB8, MC1DN32	602140	10q24.31
Mitochondrial complex I deficiency, nuclear type 33, 618253 (3)	NDUFA6, MC1DN33	602138	22q13.2
Mitochondrial complex I deficiency, nuclear type 34, 618776 (3)	NDUFAF8, C17orf89, MC1DN34	618461	17q25.3
Mitochondrial complex I deficiency, nuclear type 36, 619170 (3)	NDUFC2, MC1DN36	603845	11q14.1
Mitochondrial complex I deficiency, nuclear type 37, 619272 (3)	NDUFA8, MC1DN37	603359	9q33.2
Mitochondrial complex I deficiency, nuclear type 4, 618225 (3)	NDUFV1, UQOR1, MC1DN4	161015	11q13.2
Mitochondrial complex I deficiency, nuclear type 5, 618226 (3)	NDUFS1, MC1DN5	157655	2q33.3
Mitochondrial complex I deficiency, nuclear type 6, 618228 (3)	NDUFS2, MC1DN6	602985	1q23.3
Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)	NDUFV2, MC1DN7	600532	18p11.22
Mitochondrial complex I deficiency, nuclear type 8, 618230 (3)	NDUFS3, MC1DN8	603846	11p11.2
Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)	NDUFS6, MC1DN9	603848	5p15.33
Mitochondrial complex II deficiency, nuclear type 1, 252011 (3)	SDHA, SDH1, SDHF, CMD1GG, PGL5, MC2DN1, NDAXOA	600857	5p15.33
Mitochondrial complex II deficiency, nuclear type 2, 619166 (3)	SDHAF1, MC2DN2	612848	19q13.12
Mitochondrial complex II deficiency, nuclear type 3, 619167 (3)	SDHD, PGL1, MC2DN3	602690	11q23.1
Mitochondrial complex II deficiency, nuclear type 4, 619224 (3)	SDHB, SDH2, SDHIP, PGL4, MC2DN4	185470	1p36.13
Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)	BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1	603647	2q35
Mitochondrial complex III deficiency, nuclear type 10, 618775 (3)	UQCRFS1, MC3DN10	191327	19q12
Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)	TTC19, MC3DN2	613814	17p12
Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)	UQCRB, UQBP, QPC, MC3DN3	191330	8q22.1
Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)	UQCRQ, QPC, MC3DN4	612080	5q31.1
Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)	UQCRC2, MC3DN5	191329	16p12.2
Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)	CYC1, MC3DN6	123980	8q24.3
Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)	UQCC2, C6orf126, M19, MC3DN7	614461	6p21.31
Mitochondrial complex III deficiency, nuclear type 8, 615838 (3)	LYRM7, MZM1L, MC3DN8	615831	5q23.3-q31.1
Mitochondrial complex IV deficiency, nuclear type 1, 220110 (3)	SURF1, CMT4K, MC4DN1	185620	9q34.2
Mitochondrial complex IV deficiency, nuclear type 11, 619054 (3)	COX20, FAM36A, MC4DN11	614698	1q44
Mitochondrial complex IV deficiency, nuclear type 12, 619055 (3)	PET100, C19orf79, MC4DN12	614770	19p13.2
Mitochondrial complex IV deficiency, nuclear type 13, 616501 (3)	COA6, C1orf31, MC4DN13	614772	1q42.2
Mitochondrial complex IV deficiency, nuclear type 16, 619060 (3)	COX4I1, COX4, MC4DN16	123864	16q24.1
Mitochondrial complex IV deficiency, nuclear type 17, 619061 (3)	APOPT1, APOP, MC4DN17	616003	14q32.33
Mitochondrial complex IV deficiency, nuclear type 18, 619062 (3)	COX6A2, MC4DN18	602009	16p11.2
Mitochondrial complex IV deficiency, nuclear type 2, 604377 (3)	SCO2, MC4DN2, MYP6	604272	22q13.33
Mitochondrial complex IV deficiency, nuclear type 22, 619355 (3)	COX16, MC4DN22	618064	14q24.2
Mitochondrial complex IV deficiency, nuclear type 3, 619046 (3)	COX10, MC4DN3	602125	17p12
Mitochondrial complex IV deficiency, nuclear type 4, 619048 (3)	SCO1, SCOD1, MC4DN4	603644	17p13.1
Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), 220111 (3)	LRPPRC, LRP130, LSFC, MC4DN5	607544	2p21
Mitochondrial complex IV deficiency, nuclear type 6, 615119 (3)	COX15, MC4DN6	603646	10q24.2
Mitochondrial complex IV deficiency, nuclear type 7, 619051 (3)	COX6B1, MC4DN7	124089	19q13.12
Mitochondrial complex IV deficiency, nuclear type 8, 619052 (3)	TACO1, CCDC44, MC4DN8	612958	17q23.3
Mitochondrial complex V (ATP synthase) deficiency, 618120 (3)	ATP5F1D, ATP5D, MC5DN5	603150	19p13.3
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)	TMEM70, MC5DN2	612418	8q21.11
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6, 618683 (3)	ATP5MD, USMG5, DAPIT, MC5DN6	615204	10q24.33
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3)	FDX2, FDX1L, MEOAL	614585	19p13.2
Mitochondrial phosphate carrier deficiency, 610773 (3)	SLC25A3, PHC	600370	12q23.1
Mitochondrial pyruvate carrier deficiency, 614741 (3)	MPC1, BRP44L, MPYCD	614738	6q27
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)	POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS	174763	15q26.1
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)	ECHS1, SCEH, ECHS1D	602292	10q26.3
Mitochondrial trifunctional protein deficiency, 609015 (3)	HADHA, MTPA	600890	2p23.3
Mitral valve prolapse 2, 607829 (3)	DCHS1, PCDH16, FIB1, CDH19, VMLDS1, MVP2	603057	11p15.4
Mitral valve prolapse, myxomatous 1 (2)	MMVP1, MVP, PMV	157700	16p12.1-p11.2
Miyoshi muscular dystrophy 1, 254130 (3)	DYSF, LGMDR2, MMD1	603009	2p13.2
Miyoshi muscular dystrophy 2 (2)	MMD2	613318	8q22.3
Miyoshi muscular dystrophy 3, 613319 (3)	ANO5, TMEM16E, GDD1, LGMDR12	608662	11p14.3
Mohr-Tranebjaerg syndrome, 304700 (3)	TIMM8A, DFN1, DDP, MTS, DDP1	300356	Xq22.1
Molybdenum cofactor deficiency A, 252150 (3)	MOCS1, MOCODA	603707	6p21.2
Molybdenum cofactor deficiency B, 252160 (3)	MOCS2, MPTS, MOCODB	603708	5q11.2
Molybdenum cofactor deficiency C, 615501 (3)	GPHN, GPH, KIAA1385, GEPH, MOCODC	603930	14q23.3-q24.1
Monilethrix, 158000 (3)	KRT81, KRTHB1, HB1	602153	12q13.13
Monilethrix, 158000 (3)	KRT83, KRTHB3, HB3, MNLIX, EKVP5	602765	12q13.13
Monilethrix, 158000 (3)	KRT86, KRTHB6, HB6	601928	12q13.13
Monocarboxylate transporter 1 deficiency, 616095 (3)	SLC16A1, MCT1, HHF7, MCT1D	600682	1p13.2
Mononeuropathy of the median nerve, mild, 613353 (3)	SH3TC2, KIAA1985, MNMN	608206	5q32
Monosomy 7 myelodysplasia and leukemia syndrome 1, 252270 (3)	SAMD9L, ATXPC, M7MLS1, SCA49	611170	7q21.2
Monosomy 7 myelodysplasia and leukemia syndrome 2, 619041 (3)	SAMD9, NFTC, MIRAGE, M7MLS2	610456	7q21.2
Morbid obesity and spermatogenic failure, 615703 (3)	CEP19, C3orf34, MOSPGF	615586	3q29
Mosaic variegated aneuploidy syndrome 1, 257300 (3)	BUB1B, BUBR1, MVA1	602860	15q15.1
Mosaic variegated aneuploidy syndrome 2, 614114 (3)	CEP57, PIG8, TSP57, KIAA0092, MVA2	607951	11q21
Mosaic variegated aneuploidy syndrome 3, 617598 (3)	TRIP13, 16E1BP, MVA3, OOMD9	604507	5p15.33
Mowat-Wilson syndrome, 235730 (3)	ZEB2, ZFHX1B, SMADIP1, SIP1	605802	2q22.3
Moyamoya 6 with achalasia, 615750 (3)	GUCY1A3, GUC1A3, GUCSA3, MYMY6	139396	4q32.1
Moyamoya disease (2)	MYMY1, MYMY	252350	3p26-p24.2
Moyamoya disease 3 (2)	MYMY3	608796	8q23
Moyamoya disease 4 (4)	MYMY4, CXDELq38	300845	Xq28
Moyamoya disease 5, 614042 (3)	ACTA2, ACTSA, AAT6, MYMY5	102620	10q23.31
Muckle-Wells syndrome, 191900 (3)	NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1, DFNA34, KEFH	606416	1q44
Mucoepidermoid salivary gland carcinoma (3)	CRTC1, MECT1, KIAA0616, FLJ14027	607536	19p13.11
Mucoepidermoid salivary gland carcinoma (3)	MAML2, MAM3	607537	11q21
Mucoepithelial dysplasia, hereditary, 158310 (3)	SREBF1, IFAP2, HMD	184756	17p11.2
Mucolipidosis II alpha/beta, 252500 (3)	GNPTAB, GNPTA	607840	12q23.2
Mucolipidosis III alpha/beta, 252600 (3)	GNPTAB, GNPTA	607840	12q23.2
Mucolipidosis III gamma, 252605 (3)	GNPTAG	607838	16p13.3
Mucolipidosis IV, 252650 (3)	MCOLN1, ML4	605248	19p13.2
Mucopolysaccharidosis II, 309900 (3)	IDS, MPS2, SIDS	300823	Xq28
Mucopolysaccharidosis IVA, 253000 (3)	GALNS, MPS4A	612222	16q24.3
Mucopolysaccharidosis Ih, 607014 (3)	IDUA, IDA	252800	4p16.3
Mucopolysaccharidosis Ih/s, 607015 (3)	IDUA, IDA	252800	4p16.3
Mucopolysaccharidosis Is, 607016 (3)	IDUA, IDA	252800	4p16.3
Mucopolysaccharidosis VII, 253220 (3)	GUSB, MPS7	611499	7q11.21
Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)	SGSH, MPS3A, SFMD	605270	17q25.3
Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)	NAGLU, MPS3B, CMT2V	609701	17q21.2
Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)	HGSNAT, TMEM76, MPS3C, RP73	610453	8p11.21-p11.1
Mucopolysaccharidosis type IIID, 252940 (3)	GNS, G6S	607664	12q14.3
Mucopolysaccharidosis type IVB (Morquio), 253010 (3)	GLB1, MPS4B	611458	3p22.3
Mucopolysaccharidosis type IX, 601492 (3)	HYAL1, MPS9	607071	3p21.31
Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)	ARSB, MPS6	611542	5q14.1
Mucopolysaccharidosis, type X, 619698 (3)	ARSK, MPS10	610011	5q15
Mucopolysaccharidosis-plus syndrome, 617303 (3)	VPS33A, MPSPS	610034	12q24.31
Muenke syndrome, 602849 (3)	FGFR3, ACH	134934	4p16.3
Muir-Torre syndrome, 158320 (3)	MLH1, COCA2, HNPCC2, MMRCS1	120436	3p22.2
Muir-Torre syndrome, 158320 (3)	MSH2, COCA1, FCC1, HNPCC1, MMRCS2	609309	2p21-p16.3
Mulchandani-Bhoj-Conlin syndrome, 617352 (3)	MBCS	617352	20q11-q13
Mulibrey nanism, 253250 (3)	TRIM37, MUL, KIAA0898	605073	17q22
Mullegama-Klein-Martinez syndrome, 301022 (3)	STAG2, SA2, MKMS, HPE13	300826	Xq25
Mullerian aplasia and hyperandrogenism, 158330 (3)	WNT4, SERKAL	603490	1p36.12
Multicentric carpotarsal osteolysis syndrome, 166300 (3)	MAFB, KRML, MCTO, DURS3	608968	20q12
Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)	MMP2, CLG4A, MONA	120360	16q12.2
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)	CEP55, MARCH	610000	10q23.33
Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)	PIGN, MCAHS1	606097	18q21.33
Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)	PIGA, PNH1, MCAHS2, NEDEPH	311770	Xp22.2
Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)	PIGT, NDAP, PNH2, MCAHS3	610272	20q13.12
Multiple congenital anomalies-hypotonia-seizures syndrome 4, 618548 (3)	PIGQ, MCAHS4, DEE77, GPIBD19	605754	16p13.3
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, 301056 (3)	OTUD5, DUBA, MCAND	300713	Xp11.23
Multiple endocrine neoplasia 1, 131100 (3)	MEN1	613733	11q13.1
Multiple endocrine neoplasia IIA, 171400 (3)	RET, MEN2A, HSCR1	164761	10q11.21
Multiple endocrine neoplasia IIB, 162300 (3)	RET, MEN2A, HSCR1	164761	10q11.21
Multiple endocrine neoplasia, type IV, 610755 (3)	CDKN1B, KIP1, CDKN4, MEN4	600778	12p13.1
Multiple fibroadenomas of the breast, 615554 (3)	PRLR, MFAB, HPRL	176761	5p13.2
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3)	B3GAT3, GLCATI, JDSCD	606374	11q12.3
Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)	NFU1, HIRIP, MMDS1	608100	2p13.3
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3)	BOLA3, MMDS2	613183	2p13.1
Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)	IBA57, C1orf69, MMDS3, SPG74	615316	1q42.13
Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)	ISCA2, MMDS4	615317	14q24.3
Multiple mitochondrial dysfunctions syndrome 5, 617613 (3)	ISCA1, HBLD2, HISCA, MMDS5	611006	9q21.33
Multiple mitochondrial dysfunctions syndrome 6, 617954 (3)	PMPCB, MPPB	603131	7q22.1
Multiple pterygium syndrome, lethal type, 253290 (3)	CHRNA1, ACHRD, CMS1B, CMS1A	100690	2q31.1
Multiple pterygium syndrome, lethal type, 253290 (3)	CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C	100720	2q37.1
Multiple pterygium syndrome, lethal type, 253290 (3)	CHRNG, ACHRG	100730	2q37.1
Multiple sulfatase deficiency, 272200 (3)	SUMF1, FGE	607939	3p26.1
Multiple synostoses syndrome 1, 186500 (3)	NOG, SYM1, SYNS1A	602991	17q22
Multiple synostoses syndrome 2, 610017 (3)	GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B, DUPANS	601146	20q11.22
Multiple synostoses syndrome 3, 612961 (3)	FGF9, SYNS3	600921	13q12.11
Multiple synostoses syndrome 4, 617898 (3)	GDF6, MCOP4, KFS1, MCOPCB6, LCA17, SYNS4	601147	8q22.1
Multisystemic smooth muscle dysfunction syndrome, 613834 (3)	ACTA2, ACTSA, AAT6, MYMY5	102620	10q23.31
Mungan syndrome (2)	MGS	611376	8q23-q24
Muscle glycogenosis, 300559 (3)	PHKA1	311870	Xq13.1
Muscle strength quantitative trait locus 1 (2)	MUSTQTL1	612083	14q24.3
Muscular dystrophy with rimmed vacuoles (2)	MDRV	601846	19p13.3
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, 619518 (3)	GGPS1, GGPPS1, MDHLO	606982	1q42.3
Muscular dystrophy, congenital, 1B (2)	MDC1B	604801	1q42
Muscular dystrophy, congenital, 613205 (3)	LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS	150330	1q22
Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)	ITGA7	600536	12q13.2
Muscular dystrophy, congenital, megaconial type, 602541 (3)	CHKB, CHKL, CKEKB, EKB, MDCMC	612395	22q13.33
Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3)	LAMA2, LAMM, MDC1A	156225	6q22.33
Muscular dystrophy, congenital, merosin-positive (2)	MDCMP	609456	4p16.3
Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3)	INPP5K, SKIP, MDCCAID	607875	17p13.3
Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 (3)	DNAJB6, MRJ, DJ4, LGMDD1	611332	7q36.3
Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (3)	TNPO3, TRNSR, LGMDD2	610032	7q32.1
Muscular dystrophy, limb-girdle, autosomal dominant 3, 609115 (3)	HNRNPDL, HNRPDL, JKTBP, LGMDD3	607137	4q21.22
Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3)	CAPN3, CANP3, LGMDR1, LGMDD4	114240	15q15.1
Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3)	CAPN3, CANP3, LGMDR1, LGMDD4	114240	15q15.1
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)	TTN, CMD1G, TMD, LGMDR10, MPRM, HMERF, SALMY	188840	2q31.2
Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3)	ANO5, TMEM16E, GDD1, LGMDR12	608662	11p14.3
Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723 (3)	PLEC1, PLEC, PLTN, LGMDR17, EBS5A, EBS5B, EBS5C, EBS5D	601282	8q24.3
Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3)	TRAPPC11, C4orf41, LGMDR18	614138	4q35.1
Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3)	DYSF, LGMDR2, MMD1	603009	2p13.2
Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)	LAMA2, LAMM, MDC1A	156225	6q22.33
Muscular dystrophy, limb-girdle, autosomal recessive 25, 616812 (3)	BVES, HBVES, POPDC1, LGMDR25	604577	6q21
Muscular dystrophy, limb-girdle, autosomal recessive 26, 618848 (3)	POPDC3, POP3, LGMDR26	605824	6q21
Muscular dystrophy, limb-girdle, autosomal recessive 27, 619566 (3)	JAG2, LGMDR27	602570	14q32.33
Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 (3)	SGCA, ADL, DAG2, LGMDR3	600119	17q21.33
Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 (3)	SGCB, LGMDR4	600900	4q12
Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)	SGCG, LGMDR5, DMDA1, SCG3	608896	13q12.12
Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3)	SGCD, SGD, LGMDR6, CMD1L	601411	5q33.2-q33.3
Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 (3)	TCAP, LGMDR7, CMH25	604488	17q12
Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 (3)	TRIM32, HT2A, LGMDR8, BBS11	602290	9q33.1
Muscular dystrophy, limb-girdle, type 1H (2)	LGMD1H	613530	3p25.1-p23
Muscular dystrophy, rigid spine, 1, 602771 (3)	SELENON, SEPN1, SELN, RSMD1, CFTD	606210	1p36.11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)	POMT1, MDDGA1, MDDGB1, MDDGC1, LGMDR11	607423	9q34.13
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3)	RXYLT1, TMEM5, MDDGA10	605862	12q14.2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)	POMK, SGK196, MDDGA12, MDDGC12	615247	8p11.21
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3)	B4GAT1, B3GNT1, IGNT, IGAT, MDDGA13	605517	11q13.2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3)	GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14, LGMDR19	615320	3p21.31
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)	POMT2, MDDGA2, MDDGB2, MDDGC2, LGMDR14	607439	14q24.3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)	POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76, LGMDR15	606822	1p34.1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)	FKTN, FCMD, CMD1X, LGMDR13, MDDGA4, MDDGB4, MDDGC4	607440	9q31.2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)	FKRP, MDC1C, LGMDR9, MDDGA5, MDDGB5, MDDGC5	606596	19q13.32
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)	LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6	603590	22q12.3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)	CRPPA, ISPD, MDDGA7, MDDGC7, LGMDR20	614631	7p21.2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3)	DAG1, DAG, MDDGC9, MDDGA9, LGMDR16	128239	3p21.31
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)	B3GALNT2, MGC39558, MDDGA11	610194	1q42.3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)	POMGNT2, GTDC2, C3orf39, AGO61, MDDGA8, MDDGC8	614828	3p22.1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)	POMT1, MDDGA1, MDDGB1, MDDGC1, LGMDR11	607423	9q34.13
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)	GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14, LGMDR19	615320	3p21.31
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)	POMT2, MDDGA2, MDDGB2, MDDGC2, LGMDR14	607439	14q24.3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)	POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76, LGMDR15	606822	1p34.1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)	LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6	603590	22q12.3
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3)	FKRP, MDC1C, LGMDR9, MDDGA5, MDDGB5, MDDGC5	606596	19q13.32
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3)	FKTN, FCMD, CMD1X, LGMDR13, MDDGA4, MDDGB4, MDDGC4	607440	9q31.2
Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 (3)	POMGNT2, GTDC2, C3orf39, AGO61, MDDGA8, MDDGC8	614828	3p22.1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)	POMT1, MDDGA1, MDDGB1, MDDGC1, LGMDR11	607423	9q34.13
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)	GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14, LGMDR19	615320	3p21.31
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 (3)	DPM3, MDDGC15, MDDGB15	605951	1q22
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)	POMT2, MDDGA2, MDDGB2, MDDGC2, LGMDR14	607439	14q24.3
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)	POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76, LGMDR15	606822	1p34.1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3)	FKTN, FCMD, CMD1X, LGMDR13, MDDGA4, MDDGB4, MDDGC4	607440	9q31.2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3)	FKRP, MDC1C, LGMDR9, MDDGA5, MDDGB5, MDDGC5	606596	19q13.32
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3)	CRPPA, ISPD, MDDGA7, MDDGC7, LGMDR20	614631	7p21.2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)	DAG1, DAG, MDDGC9, MDDGA9, LGMDR16	128239	3p21.31
Myasthenia gravis with thymus hyperplasia (2)	MYAS1	607085	6p21.3
Myasthenia, congenital, 12, with tubular aggregates, 610542 (3)	GFPT1, GFAT1, GFPT1L, MSLG, CMS12, CMSTA1	138292	2p13.3
Myasthenic syndrome, congenital, 10, 254300 (3)	DOK7, C4orf25, CMS10, FADS3	610285	4p16.3
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)	RAPSN, CMS1D, CMS11, FADS2	601592	11p11.2
Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)	DPAGT1, DPAGT2, DGPT, CDG1J, CMSTA2, CMS13	191350	11q23.3
Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)	ALG2, CDGII, CMSTA3, CMS14	607905	9q22.33
Myasthenic syndrome, congenital, 16, 614198 (3)	SCN4A, HYPP, NAC1A, HOKPP2, CMS16	603967	17q23.3
Myasthenic syndrome, congenital, 19, 616720 (3)	COL13A1, CMS19	120350	10q22.1
Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3)	CHRNA1, ACHRD, CMS1B, CMS1A	100690	2q31.1
Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3)	CHRNA1, ACHRD, CMS1B, CMS1A	100690	2q31.1
Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3)	SLC5A7, CHT1, HMN7A, CMS20	608761	2q12.3
Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3)	SLC18A3, VACHT, CMS21	600336	10q11.23
Myasthenic syndrome, congenital, 22, 616224 (3)	PREPL, KIAA0436, CMS22	609557	2p21
Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3)	SLC25A1, SLC20A3, CTP, D2L2AD, CMS23	190315	22q11.21
Myasthenic syndrome, congenital, 24, presynaptic, 618198 (3)	MYO9A, CMS24	604875	15q23
Myasthenic syndrome, congenital, 25, 618323 (3)	VAMP1, SYB1, SPAX1, CMS25	185880	12p13.31
Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3)	CHRNB1, ACHRB, SCCMS, CMS2A, CMS2C	100710	17p13.1
Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)	CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C	100720	2q37.1
Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)	CHRNE, SCCMS, CMS4A, CMS4B, CMS4C	100725	17p13.2
Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3)	CHRNE, SCCMS, CMS4A, CMS4B, CMS4C	100725	17p13.2
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3)	CHRNE, SCCMS, CMS4A, CMS4B, CMS4C	100725	17p13.2
Myasthenic syndrome, congenital, 5, 603034 (3)	COLQ, EAD, CMS5	603033	3p25.1
Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)	CHAT, CMS6	118490	10q11.23
Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, 616040 (3)	SYT2, CMS7A, MYSPC, CMS7B	600104	1q32.1
Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, 619461 (3)	SYT2, CMS7A, MYSPC, CMS7B	600104	1q32.1
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)	AGRN, CMS8	103320	1p36.33
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)	MUSK, CMS9, FADS1	601296	9q31.3
Myelodysplasia syndrome-1 (3)	MDS1	600049	3q26
Myelodysplastic syndrome (3)	ACSL6, FACL6, ACS2	604443	5q31.1
Myelodysplastic syndrome, preleukemic (3)	IRF1, MAR	147575	5q31.1
Myelodysplastic syndrome, somatic, 614286 (3)	ASXL1, KIAA0978, BOPS, MDS	612990	20q11.21
Myelodysplastic syndrome, somatic, 614286 (3)	GNB1, MRD42, MDS	139380	1p36.33
Myelodysplastic syndrome, somatic, 614286 (3)	SF3B1, SF3B155, SAP155, MDS	605590	2q33.1
Myelodysplastic syndrome, somatic, 614286 (3)	TET2, KIAA1546, MDS, IMD75	612839	4q24
Myelofibrosis with myeloid metaplasia, somatic, 254450 (3)	MPL, TPOR, MPLV, THCYT2	159530	1p34.2
Myelofibrosis, somatic, 254450 (3)	CALR, SSA	109091	19p13.13
Myelofibrosis, somatic, 254450 (3)	JAK2, THCYT3	147796	9p24.1
Myelofibrosis, somatic, 254450 (3)	SH2B3, LNK	605093	12q24.12
Myelogenous leukemia, acute (3)	ACSL6, FACL6, ACS2	604443	5q31.1
Myelogenous leukemia, acute (3)	IRF1, MAR	147575	5q31.1
Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626 (1)	CBFB, PEBP2B	121360	16q22.1
Myelokathexis, isolated, 193670 (3)	CXCR4, D2S201E, NPY3R, WHIMS1	162643	2q22.1
Myeloperoxidase deficiency, 254600 (3)	MPO	606989	17q22
Myeloproliferative disorder (2)	FGFR1OP, FOP	605392	6q27
Myeloproliferative disorder with eosinophilia, 131440 (4)	PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS	173410	5q32
Myhre syndrome, 139210 (3)	SMAD4, MADH4, DPC4, JIP, MYHRS	600993	18q21.2
Myoclonic epilepsy, infantile, familial, 605021 (3)	TBC1D24, KIAA1171, FIME, DEE16, DOORS, DFNB86, DFNA65, EPRPDC	613577	16p13.3
Myoclonic epilepsy, juvenile, 4 (2)	EJM4	611364	5q12-q14
Myoclonic-atonic epilepsy, 616421 (3)	SLC6A1, GABATR, MAE	137165	3p25.3
Myoclonus, intractable, neonatal, 617235 (3)	KIF5A, NKHC, SPG10, NEIMY, ALS25	602821	12q13.3
Myofibrillar myopathy 10, 619040 (3)	SVIL, MFM10	604126	10p11.23
Myofibrillar myopathy 11, 619178 (3)	UNC45B, SMUNC45, CTRCT43, MFM11	611220	17q12
Myofibromatosis, infantile, 1, 228550 (3)	PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS	173410	5q32
Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)	LPIN1	605518	2p25.1
Myokymia, 121200 (3)	KCNQ2, EBN1, DEE7, BFNS1	602235	20q13.33
Myopathy due to myoadenylate deaminase deficiency, 615511 (3)	AMPD1, MMDD	102770	1p13.2
Myopathy with extrapyramidal signs, 615673 (3)	MICU1, CBARA1, MPXPS	605084	10q22.1
Myopathy with lactic acidosis, hereditary, 255125 (3)	ISCU, HML	611911	12q23.3
Myopathy, X-linked, with excessive autophagy, 310440 (3)	VMA21, XMEA	300913	Xq28
Myopathy, X-linked, with postural muscle atrophy, 300696 (3)	FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B, FCMSU	300163	Xq26.3
Myopathy, actin, congenital, with cores, 161800 (3)	ACTA1, ASMA, NEM3, CFTD1, SHPM	102610	1q42.13
Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3)	ACTA1, ASMA, NEM3, CFTD1, SHPM	102610	1q42.13
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)	MEGF10, KIAA1780, EMARDD	612453	5q23.2
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)	MEGF10, KIAA1780, EMARDD	612453	5q23.2
Myopathy, centronuclear, X-linked 310400 (3)	MTM1, MTMX, CNMX	300415	Xq28
Myopathy, congenital with structured cores and Z-line abnormalities, 618654 (3)	ACTN2, CMD1AA, CMH23, MYOCOZ, MPD6	102573	1q43
Myopathy, congenital, Baily-Bloch, 255995 (3)	STAC3, NAM, MYPBB	615521	12q13.3
Myopathy, congenital, progressive, with scoliosis, 618578 (3)	PAX7, RMS2, MYOSCO	167410	1p36.13
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, 618975 (3)	MYOD1, MYF3, MYODRIF	159970	11p15.1
Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 (3)	MYL1, MYOFTA	160780	2q34
Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)	ACTA1, ASMA, NEM3, CFTD1, SHPM	102610	1q42.13
Myopathy, congenital, with fiber-type disproportion, 255310 (3)	SELENON, SEPN1, SELN, RSMD1, CFTD	606210	1p36.11
Myopathy, congenital, with fiber-type disproportion, 255310 (3)	TPM3, NEM1, CFTD, CAPM1	191030	1q21.3
Myopathy, congenital, with fiber-type disproportion, X-linked (2)	CFTDX	300580	Xq13.1-q22.1
Myopathy, congenital, with tremor, 618524 (3)	MYBPC1, LCCS4, MYOTREM	160794	12q23.2
Myopathy, distal, 3 (2)	MPD3	610099	8p22-q11
Myopathy, distal, 4, 614065 (3)	FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5	102565	7q32.1
Myopathy, distal, 5, 617030 (3)	ADSS1, ADSSL1, MPD5	612498	14q32.33
Myopathy, distal, 6, adult onset, 618655 (3)	ACTN2, CMD1AA, CMH23, MYOCOZ, MPD6	102573	1q43
Myopathy, distal, 7, adult-onset, X-linked, 301075 (3)	SMPX, DFNX4, MPD7	300226	Xp22.12
Myopathy, distal, Tateyama type, 614321 (3)	CAV3, LQT9, MPDT, RMD2	601253	3p25.3
Myopathy, distal, with anterior tibial onset, 606768 (3)	DYSF, LGMDR2, MMD1	603009	2p13.2
Myopathy, distal, with rimmed vacuoles, 617158 (3)	SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV	601530	5q35.3
Myopathy, epilepsy, and progressive cerebral atrophy, 619036 (3)	ALG14, CMS15, IDDEBF, MEPCA	612866	1p21.3
Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3)	PUS1, MLASA1	608109	12q24.33
Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)	YARS2, TYRRS, MLASA2	610957	12p11.21
Myopathy, mitochondrial progressive, with congenital cataract and developmental delay, 613076 (3)	GFER, ERV1, ALR, MPMCD	600924	16p13.3
Myopathy, mitochondrial, and ataxia, 617675 (3)	MSTO1, MMYAT	617619	1q22
Myopathy, myofibrillar, 1, 601419 (3)	DES, CMD1I, MFM1, SCPNK	125660	2q35
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, 619424 (3)	MYL2, CMH10, MFM12	160781	12q24.11
Myopathy, myofibrillar, 2, 608810 (3)	CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2	123590	11q23.1
Myopathy, myofibrillar, 3, 609200 (3)	MYOT, TTOD, MFM3	604103	5q31.2
Myopathy, myofibrillar, 4, 609452 (3)	LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3	605906	10q23.2
Myopathy, myofibrillar, 5, 609524 (3)	FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5	102565	7q32.1
Myopathy, myofibrillar, 6, 612954 (3)	BAG3, MFM6	603883	10q26.11
Myopathy, myofibrillar, 7, 617114 (3)	KY, MFM7	605739	3q22.2
Myopathy, myofibrillar, 8, 617258 (3)	PYROXD1, MFM8	617220	12p12.1
Myopathy, myofibrillar, 9, with early respiratory failure, 603689 (3)	TTN, CMD1G, TMD, LGMDR10, MPRM, HMERF, SALMY	188840	2q31.2
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3)	CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2	123590	11q23.1
Myopathy, myosin storage, autosomal dominant, 608358 (3)	MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD	160760	14q11.2
Myopathy, myosin storage, autosomal recessive, 255160 (3)	MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD	160760	14q11.2
Myopathy, spheroid body, 182920 (3)	MYOT, TTOD, MFM3	604103	5q31.2
Myopathy, tubular aggregate, 1, 160565 (3)	STIM1, TAM1, IMD10, STRMK	605921	11p15.4
Myopathy, tubular aggregate, 2, 615883 (3)	ORAI1, TMEM142A, CRACM1, IMD9, TAM2	610277	12q24.31
Myopathy, vacuolar, with CASQ1 aggregates, 616231 (3)	CASQ1, VMCQA	114250	1q23.2
Myopia 10 (2)	MYP10	609259	8p23
Myopia 11 (2)	MYP11	609994	4q22-q27
Myopia 12 (2)	MYP12	609995	2q37.1
Myopia 13 (2)	MYP13	300613	Xq23-q27.2
Myopia 14 (2)	MYP14	610320	1p36
Myopia 15 (2)	MYP15	612717	10q21.1
Myopia 16 (2)	MYP16	612554	5p15.33-p15.2
Myopia 17 (2)	MYP17, MYP4	608367	7p15
Myopia 18 (2)	MYP18	255500	14q22.1-q24.2
Myopia 19 (2)	MYP19	613969	5p15.1-p13.3
Myopia 2 (2)	MYP2	160700	18p11.31
Myopia 20, autosomal dominant (2)	MYP20	614166	13q12.12
Myopia 21, autosomal dominant, 614167 (3)	ZNF644, MYP21	614159	1p22.2
Myopia 22, autosomal dominant, 615420 (3)	CCDC111, MYP22	615421	4q35.1
Myopia 23, autosomal recessive, 615431 (3)	LRPAP1, A2MRAP, MYP23	104225	4p16.3
Myopia 24, autosomal dominant, 615946 (3)	SLC39A5, MYP24	608730	12q13.3
Myopia 25, autosomal dominant, 617238 (3)	P4HA2, MYP25	600608	5q31.1
Myopia 26, X-linked, female-limited, 301010 (3)	ARR3, MYP26	301770	Xq13.1
Myopia 27, 618827 (3)	CPSF1, CPSF160, MYP27	606027	8q24.3
Myopia 28, autosomal recessive, 619781 (3)	LOXL3, MYP28	607163	2p13.1
Myopia 5 (2)	MYP5	608474	17q21-q22
Myopia 6, 608908 (3)	SCO2, MC4DN2, MYP6	604272	22q13.33
Myopia 7 (2)	MYP7	609256	11p13
Myopia 8 (2)	MYP8	609257	3q26
Myopia 9 (2)	MYP9	609258	4q12
Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3)	P3H2, LEPREL1, MCVD	610341	3q28
Myopia-1 (2)	MYP1	310460	Xq28
Myopia-3 (2)	MYP3	603221	12q21-q23
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)	SCN4A, HYPP, NAC1A, HOKPP2, CMS16	603967	17q23.3
Myotonia congenita, dominant, 160800 (3)	CLCN1	118425	7q34
Myotonia congenita, recessive, 255700 (3)	CLCN1	118425	7q34
Myotonia levior, recessive (3)	CLCN1	118425	7q34
Myotonic dystrophy 1, 160900 (3)	DMPK, DM, DMK	605377	19q13.32
Myotonic dystrophy 2, 602668 (3)	CNBP, ZNF9, CNBP1, DM2, PROMM	116955	3q21.3
Myxoid liposarcoma (4)	MXLPO	613488	12q13.1
Myxoma, intracardiac, 255960 (3)	PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1	188830	17q24.2
N-acetylglutamate synthase deficiency, 237310 (3)	NAGS	608300	17q21.31
NESCAV syndrome, 614255 (3)	KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9	601255	2q37.3
NOR polyagglutination syndrome, 111400 (3)	A4GALT, P1PK	607922	22q13.2
Nabais Sa-de Vries syndrome, type 1, 618828 (3)	SPOP, NSDVS1, NSDVS2	602650	17q21.33
Nabais Sa-de Vries syndrome, type 2, 618829 (3)	SPOP, NSDVS1, NSDVS2	602650	17q21.33
Nablus mask-like facial syndrome (4)	NMLFS, DEL8q22.1, C8DELq22.1	608156	8q22.1
Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)	KRT14, EBS1A, EBS1B, EBS1C, EBS1D	148066	17q21.2
Nail disorder, nonsyndromic congenital, 1, 161050 (3)	FZD6, NDNC1	603409	8q22.3
Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)	PLCD1, NDNC3	602142	3p22.2
Nail disorder, nonsyndromic congenital, 7 (2)	NDNC7	605779	17p13
Nail disorder, nonsyndromic congenital, 9 (2)	NDNC9	614149	17q25.1-q25.3
Nail-patella syndrome, 161200 (3)	LMX1B, NPS1, FSGS10	602575	9q33.3
Nance-Horan syndrome, 302350 (3)	NHS, CXN, CTRCT40	300457	Xp22.2-p22.13
Nanophthalmos 2, 609549 (3)	MFRP, MCOP5, NNO2	606227	11q23.3
Nanophthalmos 3 (2)	NNO3	611897	2q11-q14
Nanophthalmos 4, 615972 (3)	TMEM98, NNO4	615949	17q11.2
Nanophthalmos-1 (2)	NNO1	600165	11p
Narcolepsy 2 (2)	NRCLP2	605841	4p13-q21
Narcolepsy 3 (2)	NRCLP3	609039	21q11.2
Narcolepsy 6 (2)	NRCLP6	614223	19p13.2
Nasopharyngeal carcinoma, somatic, 607107 (3)	TP53, P53, LFS1 , BCC7, BMFS5	191170	17p13.1
Naxos disease, 601214 (3)	JUP, DP3, PDGB, ARVD12	173325	17q21.2
Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)	TPM3, NEM1, CFTD, CAPM1	191030	1q21.3
Nemaline myopathy 10, 616165 (3)	LMOD3, NEM10	616112	3p14.1
Nemaline myopathy 11, autosomal recessive, 617336 (3)	MYPN, CMD1DD, CMH22, RCM4, NEM11	608517	10q21.3
Nemaline myopathy 2, autosomal recessive, 256030 (3)	NEB, NEM2, AMC6	161650	2q23.3
Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3)	ACTA1, ASMA, NEM3, CFTD1, SHPM	102610	1q42.13
Nemaline myopathy 4, autosomal dominant, 609285 (3)	TPM2, TMSB, AMCD1, DA1, DA2B4, NEM4	190990	9p13.3
Nemaline myopathy 5, Amish type, 605355 (3)	TNNT1, ANM, NEM5	191041	19q13.42
Nemaline myopathy 6, autosomal dominant, 609273 (3)	KBTBD13, NEM6	613727	15q22.31
Nemaline myopathy 7, autosomal recessive, 610687 (3)	CFL2, NEM7	601443	14q13.1
Nemaline myopathy 8, autosomal recessive, 615348 (3)	KLHL40, SYRP, KBTBD5, NEM8	615340	3p22.1
Nemaline myopathy 9, 615731 (3)	KLHL41, KBTBD10, SARCOSIN, NEM9	607701	2q31.1
Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)	AVPR2, DIR, DI1, ADHR, NDI1	300538	Xq28
Nephrolithiasis, type I, 310468 (3)	CLCN5, CLCK2, NPHL2, DENT1, NPHL1	300008	Xp11.23
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)	SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2, HCINF2	182309	5q35.3
Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)	SLC9A3R1, EBP50, NHERF1, NPHLOP2	604990	17q25.1
Nephronophthisis 1, juvenile, 256100 (3)	NPHP1, NPH1, SLSN1, JBTS4	607100	2q13
Nephronophthisis 11, 613550 (3)	TMEM67, MKS3, JBTS6, NPHP11	609884	8q22.1
Nephronophthisis 12, 613820 (3)	TTC21B, THM1, NPHP12, SRTD4, ATD4	612014	2q24.3
Nephronophthisis 13, 614377 (3)	WDR19, SRTD5, ATD5, NPHP13, CED4, SPGF72	608151	4p14
Nephronophthisis 14, 614844 (3)	ZNF423, ZFP423, OAZ, KIAA0760, NPHP14, JBTS19	604557	16q12.1
Nephronophthisis 15, 614845 (3)	CEP164, KIAA1052	614848	11q23.3
Nephronophthisis 16, 615382 (3)	ANKS6, PKDR1, NPHP16	615370	9q22.33
Nephronophthisis 18, 615862 (3)	CEP83, CCDC41, NPHP18	615847	12q22
Nephronophthisis 19, 616217 (3)	DCDC2, RU2, KIAA1154, NPHP19, DFNB66, NSC	605755	6p22.3
Nephronophthisis 2, infantile, 602088 (3)	INVS, INV, NPHP2, NPH2	243305	9q31.1
Nephronophthisis 20, 617271 (3)	MAPKBP1, JNKBP1, NPHP20	616786	15q15.1
Nephronophthisis 3, 604387 (3)	NPHP3, NPH3, RHPD1, MKS7	608002	3q22.1
Nephronophthisis 4, 606966 (3)	NPHP4, SLSN4	607215	1p36.31
Nephronophthisis 7, 611498 (3)	GLIS2, NPHP7	608539	16p13.3
Nephronophthisis-like nephropathy 1, 613159 (3)	XPNPEP3, APP3, NPHPL1	613553	22q13.2
Nephropathy due to CFHR5 deficiency, 614809 (3)	CFHR5, CFHL5, FHR5, CFHR5D	608593	1q31.3
Nephropathy, progressive, with deafness (2)	NEDE	609469	11q24
Nephropathy-hypertension (2)	RFH1, AORF	161900	1q21
Nephrotic syndrome, type 1, 256300 (3)	NPHS1, NPHN	602716	19q13.12
Nephrotic syndrome, type 10, 615861 (3)	EMP2, NPHS10	602334	16p13.13
Nephrotic syndrome, type 11, 616730 (3)	NUP107, NUP84, NPHS11, ODG6; GAMOS7	607617	12q15
Nephrotic syndrome, type 12, 616892 (3)	NUP93, NIC96, KIAA0095, NPHS12	614351	16q13
Nephrotic syndrome, type 14, 617575 (3)	SGPL1, SPL, NPHS14	603729	10q22.1
Nephrotic syndrome, type 15, 617609 (3)	MAGI2, AIP1, KIAA0705, NPHS15	606382	7q21.11
Nephrotic syndrome, type 16, 617783 (3)	KANK2, ANKRD25, KIAA1518, PPKWH, NPHS16	614610	19p13.2
Nephrotic syndrome, type 17, 618176 (3)	NUP85, PCNT1, PCNT, NPHS17	170285	17q25.1
Nephrotic syndrome, type 18, 618177 (3)	NUP133, NPHS18, GAMOS8	607613	1q42.13
Nephrotic syndrome, type 2, 600995 (3)	PDCN, NPHS2, SRN1	604766	1q25.2
Nephrotic syndrome, type 20, 301028 (3)	TBC1D8B, NPHS20	301027	Xq22.3
Nephrotic syndrome, type 21, 618594 (3)	AVIL, NPHS21	613397	12q14.1
Nephrotic syndrome, type 22, 619155 (3)	NOS1AP, CAPON, KIAA0464, NPHS22	605551	1q23.3
Nephrotic syndrome, type 23, 619201 (3)	KIRREL1, NEPH1, NPHS23	607428	1q23.1
Nephrotic syndrome, type 24, 619263 (3)	DAAM2, KIAA0381, NPHS24	606627	6p21.2
Nephrotic syndrome, type 3, 610725 (3)	PLCE1, KIAA1516, NPHS3	608414	10q23.33
Nephrotic syndrome, type 4, 256370 (3)	WT1, NPHS4	607102	11p13
Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)	LAMB2, LAMS, NPHS5, PIERS	150325	3p21.31
Nephrotic syndrome, type 6, 614196 (3)	PTPRO, GLEPP1, NPHS6	600579	12p12.3
Nephrotic syndrome, type 7, 615008 (3)	DGKE, NPHS7, AHUS7	601440	17q22
Nephrotic syndrome, type 8, 615244 (3)	ARHGDIA, GDIA1, NPHS8	601925	17q25.3
Nephrotic syndrome, type 9, 615573 (3)	COQ8B, ADCK4, NPHS9	615567	19q13.2
Nestor-Guillermo progeria syndrome, 614008 (3)	BANF1, BAF, NGPS	603811	11q13.1
Netherton syndrome, 256500 (3)	SPINK5, LEKTI	605010	5q32
Neu-Laxova syndrome 1, 256520 (3)	PHGDH, NLS1, PHGDHD	606879	1p12
Neu-Laxova syndrome 2, 616038 (3)	PSAT1, PSAT, EPIP, PSATD, NLS2	610936	9q21.2
Neural tube defects, 182940 (3)	VANGL2, LTAP	600533	1q23.2
Neuroblastoma with Hirschsprung disease, 613013 (3)	PHOX2B, NBPHOX, PMX2B, NBLST2, CCHS	603851	4p13
Neurocardiofaciodigital syndrome, 619869 (3)	MAPKAPK5, PRAK, NCFD	606723	12q24.12-q24.13
Neurocutaneous melanosis, somatic, 249400 (3)	NRAS, ALPS4, NS6, CMNS, NCMS	164790	1p13.2
Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)	FOLR1, NCFTD	136430	11q13.4
Neurodegeneration with ataxia and late-onset optic atrophy, 619259 (3)	SDHA, SDH1, SDHF, CMD1GG, PGL5, MC2DN1, NDAXOA	600857	5p15.33
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3)	SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV	601530	5q35.3
Neurodegeneration with brain iron accumulation 1, 234200 (3)	PANK2, NBIA1, PKAN, HARP	606157	20p13
Neurodegeneration with brain iron accumulation 2B, 610217 (3)	PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14	603604	22q13.1
Neurodegeneration with brain iron accumulation 3, 606159 (3)	FTL, NBIA3, LFTD	134790	19q13.33
Neurodegeneration with brain iron accumulation 4, 614298 (3)	C19orf12, NBIA4, SPG43	614297	19q12
Neurodegeneration with brain iron accumulation 5, 300894 (3)	WDR45, WIPI4, NBIA5	300526	Xp11.23
Neurodegeneration with brain iron accumulation 6, 615643 (3)	COASY, NBIA6, PCH12	609855	17q21.2
Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, 619173 (3)	CLCN6, CONRIBA	602726	1p36.22
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 (3)	ADPRHL2, ARH3, CONDSIAS	610624	1p34.3
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, 618868 (3)	SLC44A1, CTL1, CDW92, CONATOC	606105	9q31.1-q31.2
Neurodegeneration, childhood-onset, with brain atrophy, 617672 (3)	UBTF, UBF, CONDBA	600673	17q21.31
Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 (3)	AGTPBP1, NNA1, KIAA1035, CCP1, CONDCA	606830	9q21.33
Neurodegeneration, childhood-onset, with progressive microcephaly, 619847 (3)	DTYMK, TYMK, CDC8, CONPM	188345	2q37.3
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, 618451 (3)	IREB2, NDCAMA	147582	15q25.1
Neurodegeneration, infantile-onset, biotin-responsive, 618973 (3)	SLC5A6, SMVT, NERIB	604024	2p23.3
Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 (3)	PPP2CA, NEDLBA	176915	5q31.1
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, 618890 (3)	PTPN23, KIAA1471, HDPTP, NEDBASS	606584	3p21.31
Neurodevelopmental disorder with absent language and variable seizures, 618707 (3)	WASF1, WAVE, WAVE1, SCAR1, NEDALVS	605035	6q21
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 (3)	SVBP, CCDC23, NEDAHM	617853	1p34.2
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3)	RAB11B, NDAGSCW	604198	19p13.2
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, 618718 (3)	NTNG2, NEDBASH	618689	9q34.13
Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, 615286 (3)	ADAT3, TAD3, NEDBGF	615302	19p13.3
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, 618731 (3)	DHX37, KIAA1517, NEDBAVC, SRXY11	617362	12q24.31
Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, 618590 (3)	PIGU, CDC91L1, GPIBD21, NEDBSS	608528	20q11.22
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, 619121 (3)	SHMT2, GLYA, NEDCASB	138450	12q13.3
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 (3)	INTS1, INT1, KIAA1440, NDCAGF	611345	7p22.3
Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 (3)	NFASC, KIAA0756, NEDCPMD	609145	1q32.1
Neurodevelopmental disorder with central hypotonia and dysmorphic facies, 619797 (3)	HDAC4, HDACA, NEDCHF	605314	2q37.3
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, 619333 (3)	GEMIN5, NEDCAM	607005	5q33.2
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3)	BRAT1, BAAT1, C7orf27, RMFSL, NEDCAS	614506	7p22.3
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, 619244 (3)	TTC5, NEDCAFD	619014	14q11.2
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, 618505 (3)	KDM6B, JMJD3, KIAA0346, NEDCFSA	611577	17p13.1
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, 619306 (3)	EXOC2, SEC5L1, SEC5, NEDFACH	615329	6p25.3
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3)	BPTF, FALZ, FAC1, NURF301, NEDDFL	601819	17q24.2
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, 618659 (3)	ZMIZ1, RAI17, KIAA1224, ZIMP10, NEDDFSA	607159	10q22.3
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, 619480 (3)	SUPT16H, SPT16, NEDDFAC	605012	14q11.2
Neurodevelopmental disorder with dysmorphic facies and variable seizures, 619264 (3)	EMC10, C19orf63, HSS1, HSM1, NEDDFAS	614545	19q13.33
Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, 619005 (3)	MADD, DENN, NEDDISH, DEEAH	603584	11p11.2
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities, 619103 (3)	KAT5, HTATIP, TIP60, ESA1, PLIP, NEDFASB	601409	11q13.1
Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, 615802 (3)	PGAP1, NEDDSBA	611655	2q33.1
Neurodevelopmental disorder with epilepsy and hemochromatosis, 301072 (3)	PIGA, PNH1, MCAHS2, NEDEPH	311770	Xp22.2
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 (3)	LNPK, KIAA1715, NEDEHCC	610236	2q31.1
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3)	NACC1, BTBD14B, NECFM	610672	19p13.13
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, 618741 (3)	TRAPPC4, NEDESBA	610971	11q23.3
Neurodevelopmental disorder with hearing loss and spasticity, 619616 (3)	SPATA5L1, DFNB119, NEDHLS	619578	15q21.1
Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, 616577 (3)	SPATA5, SPAF, NEDHSB	613940	4q28.1
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, 619651 (3)	ADCY5, FDFM, DSKOD	600293	3q21.1
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, 618760 (3)	VAMP2, SYB2, NEDHAHM	185881	17p13.1
Neurodevelopmental disorder with hypotonia and brain abnormalities, 619512 (3)	CLCN3, NEDHYBA, NEDSBA	600580	4q33
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, 618879 (3)	PIGK, GPI8, NEDHCAS	605087	1p31.1
Neurodevelopmental disorder with hypotonia and dysmorphic facies, 619503 (3)	GNB2, SSS4; NEDHYDF	139390	7q22.1
Neurodevelopmental disorder with hypotonia and gross motor and seech delay, 619639 (3)	UBE4A, UFD2, E4, NEDHMS	603753	11q23.3
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 (3)	POLR2A, RPOL2, NEDHIB	180660	17p13.1
Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures, 614501 (3)	SNIP1, NEDHCS	608241	1p34.3
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, 619383 (3)	PPP1R21, CCDC128, KLRAQ1, NEDHFBA	618159	2p16.3
Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, 617171 (3)	DEAF1, SPN, ZMYND5, VSVS, NEDHELS	602635	11p15.5
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, 619854 (3)	GNAI1, NEDHISB	139310	7q21.11
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 (3)	ADARB1, RED1, NEDHYMS	601218	21q22.3
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, 618797 (3)	RALGAPA1, GARNL1, TULIP1, GRIPE, KIAA0884, NEDHRIT	608884	14q13.2
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)	SPTBN4, QV, NEDHND, CMND	606214	19q13.2
Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3)	HECW2, NEDL2, KIAA1301, NDHSAL	617245	2q32.3
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language, 613443 (3)	MEF2C, C5DELq14.3, DEL5q14.3, NEDHSIL	600662	5q14.3
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, 618292 (3)	DOCK3, NEDIDHA	603123	3p21.2
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, 619580 (3)	GRIK2, GLUR6, MRT6, NEDLAS	138244	6q16.3
Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 (3)	ZNF142, NEDISHM	604083	2q35
Neurodevelopmental disorder with infantile epileptic spasms, 619373 (3)	NCDN, KIAA0607, NEDIES	608458	1p34.3
Neurodevelopmental disorder with involuntary movements, 617493 (3)	GNAO1, DEE17, NEDIM	139311	16q13
Neurodevelopmental disorder with language impairment and behavioral abnormalities, 618917 (3)	GRIA2, GLUR2, NEDLIB	138247	4q32.1
Neurodevelopmental disorder with microcephaly and gray sclerae, 617051 (3)	PUS3, MRT55, NEDMIGS	616283	11q24.2
Neurodevelopmental disorder with microcephaly and spastic paraplegia, 616281 (3)	GPT2, ALT2, NEDSPM	138210	16q11.2
Neurodevelopmental disorder with microcephaly and structural brain anomalies, 618492 (3)	DYNC1I2, DNCI2, IC2, NEDMIBA	603331	2q31.1
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, 618622 (3)	SMPD4, NSMASE3, KIAA1418, NEDMABA	610457	2q21.1
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)	GEMIN4, NEDMCR	606969	17p13.3
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, 618730 (3)	TMX2, NEDMCMS	616715	11q12.1
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862 (3)	TRAPPC6B, TPC6, NEDMEBA	610397	14q21.1
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 (3)	MTHFS, NEDMEHM	604197	15q25.1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3)	PRUNE1, DRES17, NMIHBA	617413	1q21.3
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, 619091 (3)	NARS1, NARS, ASNRS, NEDMILG, NEDMILEG	108410	18q21.31
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, 619092 (3)	NARS1, NARS, ASNRS, NEDMILG, NEDMILEG	108410	18q21.31
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3)	VARS1, VARS, G7A, VARS2, NDMSCA	192150	6p21.33
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, 619685 (3)	VPS50, CCDC132, KIAA1861, NEDMSC	616465	7q21.2-q21.3
Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, 619470 (3)	TMEM222, C1orf160, NEDMOSBA	619469	1p36.11
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3)	ZSWIM6, KIAA1577, AFND, NEDMAGA	615951	5q12.1
Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, 616158 (3)	PURA, PUR1, NEDRIHF	600473	5q31.3
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, 619833 (3)	NRCAM, NEDNMS	601581	7q31.1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, 618709 (3)	DLL1, DELTA1, NEDBAS	606582	6q27
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3)	RERE, NEDBEH	605226	1p36.23
Neurodevelopmental disorder with or without autism or seizures, 619239 (3)	CUL3, PHA2E, NEDAUS	603136	2q36.2
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, 618859 (3)	NOVA2, ANOVA, NEDASB	601991	19q13.32
Neurodevelopmental disorder with or without early-onset generalized epilepsy, 619157 (3)	NBEA, NEDEGE	604889	13q13.3
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3)	GRIN1, NMDAR1, NDHMSR, NDHMSD, DEE101	138249	9q34.3
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3)	GRIN1, NMDAR1, NDHMSR, NDHMSD, DEE101	138249	9q34.3
Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, 616917 (3)	PIGG, GPI7, NEDHSCA, EMM	616918	4p16.3
Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3)	GRIA4, GLUR4, NEDSGA	138246	11q22.3
Neurodevelopmental disorder with or without variable brain abnormalities, 618443 (3)	MAPK8IP3, SYD2, JSAP1, JIP3, NEDBA	605431	16p13.3
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities, 619725 (3)	KCNN2, SK2, DYT34, NEDMAB	605879	5q22.3
Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3)	GABBR2, GPR51, DEE59, NDPLHS	607340	9q22.33
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities, 616486 (3)	MFSD2A, NEDMISBA	614397	1p34.2
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3)	PLAA, PLAP, NDMSBA	603873	9p21.2
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, 619026 (3)	HPDL, NEDSWMA, SPG83	618994	1p34.1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)	IRF2BPL, C14orf4, EAP1, NEDAMSS	611720	14q24.3
Neurodevelopmental disorder with seizures and brain abnormalities, 619517 (3)	CLCN3, NEDHYBA, NEDSBA	600580	4q33
Neurodevelopmental disorder with seizures and brain atrophy, 619072 (3)	EXOC7, EX070, KIAA1067, NEDSEBA	608163	17q25.1
Neurodevelopmental disorder with seizures and gingival overgrowth, 619323 (3)	TBC1D2B, KIAA1055, NEDSGO	619152	15q24.3-q25.1
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 (3)	CACNA1B, CACNL1A5, NEDNEH	601012	9q34.3
Neurodevelopmental disorder with seizures and speech and walking impairment, 618480 (3)	DHPS, NEDSSWI	600944	19p13.13
Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, 618922 (3)	GRM7, MGLUR7, NEDSHBA	604101	3p26.1
Neurodevelopmental disorder with severe motor impairment and absent language, 617804 (3)	DHX30, DDX30, RETCOR, KIAA0890, NEDMIAL	616423	3p21.31
Neurodevelopmental disorder with spastic diplegia and visual defects, 615075 (3)	CTNNB1, NEDSDV, EVR7	116806	3p22.1
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3)	WDR45B, WIPI3, WDR45L, NEDSBAS	609226	17q25.3
Neurodevelopmental disorder with spasticity and poor growth, 618076 (3)	UFC1, NEDSG	610554	1q23.3
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, 619286 (3)	MED27, CRSP8, CRAP34, NEDSCAC	605044	9q34.13
Neurodevelopmental disorder with speech impairment and dysmorphic facies, 619056 (3)	SETD1A, SET1A, SET1, KIAA0339, EPEDD, NEDSID	611052	16p11.2
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 (3)	RAC3	602050	17q25.3
Neurodevelopmental disorder with visual defects and brain anomalies, 618547 (3)	HK1, HKD, HMSNR, RP79, NEDVIBA	142600	10q22.1
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3)	WARS2, NEMMLAS, PKDYS3	604733	1p12
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, 619653 (3)	TNR, NEDSTO	601995	1q25.1
Neurodevelopmental, jaw, eye, and digital syndrome, 618914 (3)	FBXW11, FBXW1B, BTRC2, BTRCP2, NEDJED	605651	5q35.1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, 619522 (3)	ZMYM2, ZNF198, RAMP, FIM, NECRC	602221	13q12.11
Neuroepithelioma, 612219 (3)	EWSR1, EWS	133450	22q12.2
Neurofacioskeletal syndrome with or without renal agenesis, 619194 (3)	HS2ST1, NFSRA	604844	1p22.3
Neurofibromatosis, familial spinal, 162210 (3)	NF1, VRNF, WSS, NFNS	613113	17q11.2
Neurofibromatosis, type 1, 162200 (3)	NF1, VRNF, WSS, NFNS	613113	17q11.2
Neurofibromatosis, type 2, 101000 (3)	NF2	607379	22q12.2
Neurofibromatosis-Noonan syndrome, 601321 (3)	NF1, VRNF, WSS, NFNS	613113	17q11.2
Neurofibrosarcoma, somatic (3)	MXI1	600020	10q25.2
Neuromuscular disease and ocular or auditory anomalies with or without seizures, 618733 (3)	DHX16, DDX16, DBP2, PRP8, NMOAS	603405	6p21.33
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)	RYR1, MHS, CCO, KDS	180901	19q13.2
Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)	HINT1, PRKCNH1, NMAN	601314	5q23.3
Neuronal intranuclear inclusion disease, 603472 (3)	NOTCH2NLC, NIID, ETM6, OPDM3	618025	1q21.2
Neuronopathy, distal hereditary motor, type I (2)	DHMN1	182960	7q34-q36
Neuronopathy, distal hereditary motor, type IIA, 158590 (3)	HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A	608014	12q24.23
Neuronopathy, distal hereditary motor, type IIB, 608634 (3)	HSPB1, HSP27, CMT2F, HMN2B	602195	7q11.23
Neuronopathy, distal hereditary motor, type IID, 615575 (3)	FBXO38, FBX38, MOKA, HMN2D	608533	5q32
Neuronopathy, distal hereditary motor, type IX, 617721 (3)	WARS1, WARS, HMN9	191050	14q32.2
Neuronopathy, distal hereditary motor, type VA, 600794 (3)	GARS1, GARS, SMAD1, CMT2D, HMN5A, SMAJI	600287	7p14.3
Neuronopathy, distal hereditary motor, type VI, 604320 (3)	IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6, CMT2S	600502	11q13.3
Neuronopathy, distal hereditary motor, type VIIA, 158580 (3)	SLC5A7, CHT1, HMN7A, CMS20	608761	2q12.3
Neuronopathy, distal hereditary motor, type VIIB, 607641 (3)	DCTN1, HMN7B	601143	2p13.1
Neuronopathy, distal hereditary motor, type VIII, 600175 (3)	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3	605427	12q24.11
Neuroocular syndrome, 619539 (3)	PRR12, KIAA1205, NOC	616633	19q13.33
Neurooculocardiogenitourinary syndrome, 618652 (3)	WDR37, NOCGUS	618586	10p15.3
Neuropathy, distal hereditary motor, type VC, 619112 (3)	BSCL2, SPG17, HMN5, PELD, HMN5C	606158	11q12.3
Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)	HK1, HKD, HMSNR, RP79, NEDVIBA	142600	10q22.1
Neuropathy, hereditary motor and sensory, type VIB, 616505 (3)	SLC25A46, HMSN6B, PCH1E	610826	5q22.1
Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, 618511 (3)	PDXK, PNK, PKH, HMSN6C	179020	21q22.3
Neuropathy, hereditary motor, with myopathic features, 619216 (3)	VWA1, WARP, HMNMYO	611901	1p36.33
Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3)	SPTLC1, LBC1, SPT1, HSN1, HSAN	605712	9q22.31
Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)	SPTLC2, KIAA0526, SPT2, LCB2, HSN1C, NSAN1C	605713	14q24.3
Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)	WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2	605232	12p13.33
Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)	RETREG1, FAM134B, HSAN2B	613114	5p15.1
Neuropathy, hereditary sensory and autonomic, type IID, 243000 (3)	SCN9A, NENA, PN1, SFNP, HSAN2D	603415	2q24.3
Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, 615031 (3)	TECPR2, KIAA0329, HSAN9	615000	14q32.31
Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)	NGF, NGFB, HSAN5	162030	1p13.2
Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3)	SCN11A, HSAN7, FEPS3	604385	3p22.2
Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3)	PRDM12, HSAN8	616458	9q34.12
Neuropathy, hereditary sensory, type IB (2)	HSN1B	608088	3p24-p22
Neuropathy, hereditary sensory, type ID, 613708 (3)	ATL1, SPG3A, HSN1D	606439	14q22.1
Neuropathy, hereditary sensory, type IE, 614116 (3)	DNMT1, MCMT, HSN1E, ADCADN	126375	19p13.2
Neuropathy, hereditary sensory, type IF, 615632 (3)	ATL3, HSN1F	609369	11q13.1
Neuropathy, hereditary sensory, type IIC, 614213 (3)	KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9	601255	2q37.3
Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)	CCT5, KIAA0098, CCTE	610150	5p15.2
Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)	FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD, CMT1H	604580	14q32.12
Neuropathy, recurrent, with pressure palsies, 162500 (3)	PMP22, CMT1A, CMT1E, DSS, CIDP	601097	17p12
Neutral lipid storage disease with myopathy, 610717 (3)	PNPLA2, TTS2, ATGL	609059	11p15.5
Neutropenia, cyclic, 162800 (3)	ELANE, ELA2, SCN1	130130	19p13.3
Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)	ELANE, ELA2, SCN1	130130	19p13.3
Neutropenia, severe congenital 2, autosomal dominant, 613107 (3)	GFI1, ZNF163, SCN2	600871	1p22.1
Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)	HAX1, SCN3	605998	1q21.3
Neutropenia, severe congenital 4, autosomal recessive, 612541 (3)	G6PC3, UGRP, SCN4	611045	17q21.31
Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)	VPS45, VPS45A, SCN5	610035	1q21.2
Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)	JAGN1, SCN6	616012	3p25.3
Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)	CSF3R, GCSFR, SCN7	138971	1p34.3
Neutropenia, severe congenital, 8, autosomal dominant, 618752 (3)	SRP54, SCN8	604857	14q13.2
Neutropenia, severe congenital, 9, autosomal dominant, 619813 (3)	CLPB, SKD3, MGCA7, MEGCANN, SCN9, MGCA7A	616254	11q13.4
Neutropenia, severe congenital, X-linked, 300299 (3)	WAS, IMD2, THC1, SCNX	300392	Xp11.23
Neutrophilic dermatosis, acute febrile, 608068 (3)	MEFV, MEF, FMF, PAAND	608107	16p13.3
Nevus comedonicus, somatic, 617025 (3)	NEK9, NERCC1, LCCS10, APUG, NC	609798	14q24.3
Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)	HRAS	190020	11p15.5
Nevus, epidermal, somatic, 162900 (3)	FGFR3, ACH	134934	4p16.3
Nevus, epidermal, somatic, 162900 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
Newfoundland rod-cone dystrophy, 607476 (3)	RLBP1	180090	15q26.1
Nicolaides-Baraitser syndrome, 601358 (3)	SMARCA2, SNF2L2, NCBRS, BIS	600014	9p24.3
Niemann-Pick disease, type A, 257200 (3)	SMPD1, NPD	607608	11p15.4
Niemann-Pick disease, type B, 607616 (3)	SMPD1, NPD	607608	11p15.4
Niemann-Pick disease, type C1, 257220 (3)	NPC1, NPC	607623	18q11.2
Niemann-Pick disease, type D, 257220 (3)	NPC1, NPC	607623	18q11.2
Niemann-pick disease, type C2, 607625 (3)	NPC2, HE1	601015	14q24.3
Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)	NYX, CSNB1A, NBM1	300278	Xp11.4
Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)	GRM6, MGLUR6, CSNB1B	604096	5q35.3
Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)	TRPM1, MLSN1, CSNB1C	603576	15q13.3
Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)	SLC24A1, NCKX1, CSNB1D	603617	15q22.31
Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)	GPR179, GPR158L, GPR158L1, CSNB1E	614515	17q12
Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)	LRIT3, FIGLER4, CSNB1F	615004	4q25
Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)	CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2	300110	Xp11.23
Night blindness, congenital stationary, autosomal dominant 1, 610445 (3)	RHO, RP4, OPN2, CSNBAD1	180380	3q22.1
Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)	PDE6B, PDEB, RP40, CSNBAD2	180072	4p16.3
Night blindness, congenital stationary, autosomal dominant 3, 610444 (3)	GNAT1, CSNBAD3, CSNB1G	139330	3p21.31
Night blindness, congenital stationary, type 1G, 616389 (3)	GNAT1, CSNBAD3, CSNB1G	139330	3p21.31
Night blindness, congenital stationary, type 1H, 617024 (3)	GNB3, CSNB1H	139130	12p13.31
Night blindness, congenital stationary, type 1I, 618555 (3)	GUCY2D, GUC2D, LCA1, CORD6, RCD2, CACD1, CSNB1I	600179	17p13.1
Nijmegen breakage syndrome, 251260 (3)	NBN, NBS1	602667	8q21.3
Nijmegen breakage syndrome-like disorder, 613078 (3)	RAD50, NBSLD	604040	5q31.1
Nivelon-Nivelon-Mabille syndrome, 600092 (3)	HHAT, MART2, SKI1, NNMS	605743	1q32.2
Nizon-Isidor syndrome, 618872 (3)	MED12L, NOPAR, KIAA1635, NIZIDS	611318	3q25.1
Nonaka myopathy, 605820 (3)	GNE, GLCNE, IBM2, DMRV, NM	603824	9p13.3
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)	EGFR, NISBD2	131550	7p11.2
Nonsmall cell lung cancer, somatic, 211980 (3)	BRAF, NS7	164757	7q34
Nonsmall cell lung cancer, somatic, 211980 (3)	IRF1, MAR	147575	5q31.1
Nonsmall cell lung cancer, somatic, 211980 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
Noonan syndrome 1, 163950 (3)	PTPN11, PTP2C, SHP2, NS1, JMML, METCDS	176876	12q24.13
Noonan syndrome 10, 616564 (3)	LZTR1, SWNTS2, NS10, NS2	600574	22q11.21
Noonan syndrome 11, 618499 (3)	MRAS, RRAS3, NS11	608435	3q22.3
Noonan syndrome 12, 618624 (3)	RRAS2, TC21, NS12	600098	11p15.2
Noonan syndrome 13, 619087 (3)	MAPK1, PRKM1, ERK2, NS13	176948	22q11.22
Noonan syndrome 14, 619745 (3)	SPRED2, NS14	609292	2p14
Noonan syndrome 2, 605275 (3)	LZTR1, SWNTS2, NS10, NS2	600574	22q11.21
Noonan syndrome 3, 609942 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	190070	12p12.1
Noonan syndrome 4, 610733 (3)	SOS1, GINGF, GF1, HGF, NS4	182530	2p22.1
Noonan syndrome 5, 611553 (3)	RAF1, CRAF, NS5, CMD1NN	164760	3p25.2
Noonan syndrome 6, 613224 (3)	NRAS, ALPS4, NS6, CMNS, NCMS	164790	1p13.2
Noonan syndrome 7, 613706 (3)	BRAF, NS7	164757	7q34
Noonan syndrome 8, 615355 (3)	RIT1, RIT, ROC1, NS8	609591	1q22
Noonan syndrome 9, 616559 (3)	SOS2, NS9	601247	14q21.3
Noonan syndrome-like disorder with loose anagen hair 2, 617506 (3)	PPP1CB, NSLH2	600590	2p23.2
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3)	CBL, CBL2, NSLL	165360	11q23.3
Noonan syndrome-like with loose anagen hair 1, 607721 (3)	SHOC2, SIAA0862, SOC2, SUR8, NSLH1	602775	10q25.2
Norrie disease, 310600 (3)	NDP, ND, EVR2	300658	Xp11.3
North American Indian childhood cirrhosis (2)	NAIC	604901	16q22
Norum disease, 245900 (3)	LCAT	606967	16q22.1
Nystagmus 1, congenital, X-linked, 310700 (3)	FRMD7, NYS1, XIPAN	300628	Xq26.2
Nystagmus 2, congenital, autosomal dominant (2)	NYS2, NYSA	164100	6p12
Nystagmus 3, congenital, autosomal dominant (2)	NYS3	608345	7p11.2
Nystagmus 4, congenital, autosomal dominant (2)	NYS4	193003	13q31-q33
Nystagmus 5, congenital, X-linked (2)	NYS5	300589	Xp11.4
Nystagmus 6, congenital, X-linked, 300814 (3)	GPR143, OA1, NYS6	300808	Xp22.2
Nystagmus 7, congenital, autosomal dominant (2)	NYS7	614826	1q31.3-q32.1
Nystagmus, infantile periodic alternating, X-linked, 310700 (3)	FRMD7, NYS1, XIPAN	300628	Xq26.2
O'Donnell-Luria-Rodan syndrome, 618512 (3)	KMT2E, MLL5, ODLURO	608444	7q22.3
OKT4 epitope deficiency, 613949 (3)	CD4, OKT4D, IMD79	186940	12p13.31
Obesity (BMIQ20), 618406 (3)	MC4R, BMIQ20	155541	18q21.32
Obesity with impaired prohormone processing, 600955 (3)	PCSK1, NEC1, PC1, PC3, BMIQ12	162150	5q15
Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)	POMC, OBAIRH	176830	2p23.3
Obesity, hyperphagia, and developmental delay, 613886 (3)	NTRK2, TRKB, OBHD, DEE58	600456	9q21.33
Obesity, mild, early-onset, 601665 (3)	NR0B2, SHP	604630	1p36.11
Obesity, morbid, due to leptin deficiency, 614962 (3)	LEP, OB, LEPD	164160	7q32.1
Obesity, morbid, due to leptin receptor deficiency, 614963 (3)	LEPR, OBR, LEPRD	601007	1p31.3
Obesity, severe, 601665 (3)	PPARG, PPARG1, PPARG2, CIMT1, GLM1	601487	3p25.2
Occipital horn syndrome, 304150 (3)	ATP7A, MNK, MK, OHS, SMAX3	300011	Xq21.1
Occult macular dystrophy, 613587 (3)	RP1L1, OCMD, RP88	608581	8p23.1
Ocular albinism with sensorineural deafness (2)	OASD	300650	Xp22.3
Ocular albinism, type I, Nettleship-Falls type, 300500 (3)	GPR143, OA1, NYS6	300808	Xp22.2
Oculoauricular syndrome, 612109 (3)	HMX1, H6	142992	4p16.1
Oculocutaneous albinism, type VIII, 619165 (3)	DCT, TYRP2, OCA8	191275	13q32.1
Oculodentodigital dysplasia, 164200 (3)	GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP3	121014	6q22.31
Oculodentodigital dysplasia, autosomal recessive, 257850 (3)	GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP3	121014	6q22.31
Oculoectodermal syndrome, somatic, 600268 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	190070	12p12.1
Oculogastrointestinal neurodevelopmental syndrome, 619318 (3)	CAPN15, SOLH, OGIN	603267	16p13.3
Oculomotor apraxia, congenital, Cogan-type (2)	COMA	257550	2q13
Oculopharyngeal muscular dystrophy, 164300 (3)	PABPN1, PABP2, PAB2	602279	14q11.2
Oculopharyngodistal myopathy 1, 164310 (3)	LRP12, MIG13A	618299	8q22.3
Oculopharyngodistal myopathy 2, 618940 (3)	GIPC1, RGS19IP1, C19orf3, OPDM2	605072	19p13.12
Oculopharyngodistal myopathy 3, 619473 (3)	NOTCH2NLC, NIID, ETM6, OPDM3	618025	1q21.2
Oculopharyngodistal myopathy 4, 619790 (3)	RILPL1, RLP1, GOSPEL, OPDM4	614092	12q24.31
Oculoskeletodental syndrome, 618440 (3)	PIK3C2A, CPK, OCSKD	603601	11p15.1
Odontochondrodysplasia 1, 184260 (3)	TRIP11, TRIP230, CEV14, ACG1A, ODCD1	604505	14q32.12
Odontohypophosphatasia, 146300 (3)	ALPL, HOPS, TNSALP, HPPA, HPPO, HPPI, HPPC	171760	1p36.12
Odontoonychodermal dysplasia, 257980 (3)	WNT10A, SSPS, STHAG4, OODD	606268	2q35
Ogden syndrome, 300855 (3)	NAA10, ARD1A, ARD1, TE2, NATD, OGDNS, MCOPS1	300013	Xq28
Oguchi disease-1, 258100 (3)	SAG, RP47	181031	2q37.1
Oguchi disease-2, 613411 (3)	GRK1, RHOK, RK	180381	13q34
Ohdo syndrome, X-linked, 300895 (3)	MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX, HDKR	300188	Xq13.1
Okur-Chung neurodevelopmental syndrome, 617062 (3)	CSNK2A1, CK2A1, OCNDS	115440	20p13
Oligodontia-colorectal cancer syndrome, 608615 (3)	AXIN2, ODCRCS	604025	17q24.1
Oliver-McFarlane syndrome, 275400 (3)	PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS	603197	19p13.2
Olmsted syndrome 1, 614594 (3)	TRPV3, OLMS1, FNEPPK2	607066	17p13.2
Olmsted syndrome 2, 619208 (3)	PERP, OLMS2, EKVP7	609301	6q23.3
Omenn syndrome, 603554 (3)	DCLRE1C, ARTEMIS, SCIDA	605988	10p13
Omenn syndrome, 603554 (3)	RAG1	179615	11p12
Omenn syndrome, 603554 (3)	RAG2	179616	11p12
Omeprazole poor metabolizer, 609535 (3)	CYP2C, CYP2C19	124020	10q23.33
Omodysplasia 1, 258315 (3)	GPC6, OMIMD1	604404	13q31.3-q32.1
Omodysplasia 2, 164745 (3)	FZD2, OMOD2	600667	17q21.31
Omphalocele due to duplication of 1p31.3 (4)	OPHLC, C1DUPp31.3, DUP1p31.3	164750	1p31.3
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, 619356 (3)	PIGF, OORS	600153	2p21
Oocyte maturation defect 1, 615774 (3)	ZP1, OOMD1	195000	11q12.2
Oocyte maturation defect 10, 619176 (3)	REC114, OOMD10	618421	15q24.1
Oocyte maturation defect 12, 619697 (3)	FBXO43, EMI2, ERP1, FBX43, SPGF64, OOMD12	609110	8q22.2
Oocyte maturation defect 2, 616780 (3)	TUBB8, OOMD2	616768	10p15.3
Oocyte maturation defect 3, 617712 (3)	ZP3, ZP3A, ZP3B, OOMD3	182889	7q11.23
Oocyte maturation defect 4, 617743 (3)	PATL2, PAT1A, OOMD4	614661	15q21.1
Oocyte maturation defect 5, 617996 (3)	WEE2, WEE1B, OOMD5	614084	7q34
Oocyte maturation defect 6, 618353 (3)	ZP2, OOMD6	182888	16p12.3-p12.2
Oocyte maturation defect 7, 618550 (3)	PANX1, PX1, OOMD7	608420	11q21
Oocyte maturation defect 8, 619009 (3)	BTG4, PC3B, OOMD8	605673	11q23.1
Oocyte maturation defect 9, 619011 (3)	TRIP13, 16E1BP, MVA3, OOMD9	604507	5p15.33
Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3)	MYF5, EORVA	159990	12q21.31
Opitz GBBB syndrome, 300000 (3)	MID1, OGS1, GBBB, FXY, OSX	300552	Xp22.2
Opitz-Kaveggia syndrome, 305450 (3)	MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX, HDKR	300188	Xq13.1
Opsismodysplasia, 258480 (3)	INPPL1, OPSMD	600829	11q13.4
Optic atrophy 1, 165500 (3)	OPA1, NTG, NPG, BERHS, MTDPS14	605290	3q29
Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3)	RTN4IP1, NIMP, OPA10	610502	6q21
Optic atrophy 12, 618977 (3)	AFG3L2, SCA28, SPAX5, OPA12	604581	18p11.21
Optic atrophy 13 with retinal and foveal abnormalities, 165510 (3)	SSBP1, SSBP, OPA13	600439	7q34
Optic atrophy 2, X-linked (2)	OPA2	311050	Xp11.4-p11.21
Optic atrophy 3 with cataract, 165300 (3)	OPA3, MGA3	606580	19q13.32
Optic atrophy 4 (2)	OPA4	605293	18q12.2-q12.3
Optic atrophy 5, 610708 (3)	DNM1L, DRP1, DVLP, DYMPLE, EMPF1, OPA5	603850	12p11.21
Optic atrophy 6 (2)	OPA6	258500	8q21-q22
Optic atrophy 7, 612989 (3)	TMEM126A, OPA7	612988	11q14.1
Optic atrophy 8 (2)	OPA8	616648	16q21-q22
Optic atrophy plus syndrome, 125250 (3)	OPA1, NTG, NPG, BERHS, MTDPS14	605290	3q29
Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)	SIX6, ODRMD	606326	14q23.1
Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3)	SOX2, MCOPS3	184429	3q26.33
Optic nerve hypoplasia, 165550 (3)	PAX6, AN2, MGDA, FVH1, ASGD5	607108	11p13
Ornithine transcarbamylase deficiency, 311250 (3)	OTC	300461	Xp11.4
Orofacial cleft 11, 600625 (3)	BMP4, BMP2B1, BMP2B, MCOPS6, OFC11	112262	14q22.2
Orofacial cleft 12 (2)	OFC12	612858	8q24.3
Orofacial cleft 13 (2)	OFC13	613857	1p33
Orofacial cleft 14 (2)	OFC14	615892	1p31
Orofacial cleft 2 (2)	OFC2	602966	2p13
Orofacial cleft 3 (2)	OFC3	600757	19q13
Orofacial cleft 4 (2)	OFC4	608371	4q21-q31
Orofacial cleft 5, 608874 (3)	MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3	142983	4p16.2
Orofacial cleft 7, 225060 (3)	NECTIN1, PVRL1, HVEC, PVRR1, PRR1, ED4, OFC7, CLPED1	600644	11q23.3
Orofacial cleft 8, 618149 (3)	TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8	603273	3q28
Orofacial cleft 9 (2)	OFC9	610361	13q33.1-q34
Orofacial cleft-1 (2)	OFC1, CL	119530	6p24.3
Orofaciodigital syndrome I, 311200 (3)	OFD1, CXorf5, SGBS2, JBTS10, RP23	300170	Xp22.2
Orofaciodigital syndrome IV, 258860 (3)	TCTN3, TECT3, C10orf61, OFD4, JBTS18	613847	10q24.1
Orofaciodigital syndrome V, 174300 (3)	DDX59, OFD5	615464	1q32.1
Orofaciodigital syndrome VI, 277170 (3)	CPLANE1, C5orf42, JBTS17, OFD6	614571	5p13.2
Orofaciodigital syndrome VIII (2)	OFD8	300484	Chr.X
Orofaciodigital syndrome XIV, 615948 (3)	C2CD3, OFD14	615944	11q13.4
Orofaciodigital syndrome XVI, 617563 (3)	TMEM107, MKS13, JBTS29	616183	17p13.1
Orotic aciduria, 258900 (3)	UMPS, OPRT	613891	3q21.2
Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)	DBH, ORTHYP1	609312	9q34.2
Orthostatic hypotension 2, 618182 (3)	CYB561, ORTHYP2	600019	17q23.3
Orthostatic hypotensive disorder of Streeten (2)	OHDS	143850	18q
Osseous heteroplasia, progressive, 166350 (3)	GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3	139320	20q13.32
Osteoarthritis with mild chondrodysplasia, 604864 (3)	COL2A1	120140	12q13.11
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3)	TAPT1, CMVFR, OCLSBG	612758	4p15.32
Osteogenesis imperfecta, type I, 166200 (3)	COL1A1, OI1, OI2, OI3, OI4, EDSARTH1, CAFYD	120150	17q21.33
Osteogenesis imperfecta, type II, 166210 (3)	COL1A1, OI1, OI2, OI3, OI4, EDSARTH1, CAFYD	120150	17q21.33
Osteogenesis imperfecta, type II, 166210 (3)	COL1A2, EDSCV, EDSARTH2	120160	7q21.3
Osteogenesis imperfecta, type III, 259420 (3)	COL1A1, OI1, OI2, OI3, OI4, EDSARTH1, CAFYD	120150	17q21.33
Osteogenesis imperfecta, type III, 259420 (3)	COL1A2, EDSCV, EDSARTH2	120160	7q21.3
Osteogenesis imperfecta, type IV, 166220 (3)	COL1A1, OI1, OI2, OI3, OI4, EDSARTH1, CAFYD	120150	17q21.33
Osteogenesis imperfecta, type IV, 166220 (3)	COL1A2, EDSCV, EDSARTH2	120160	7q21.3
Osteogenesis imperfecta, type IX, 259440 (3)	PPIB, CYPB, OI9	123841	15q22.31
Osteogenesis imperfecta, type V, 610967 (3)	IFITM5, OI5	614757	11p15.5
Osteogenesis imperfecta, type VI, 613982 (3)	SERPINF1, PEDF, OI6	172860	17p13.3
Osteogenesis imperfecta, type VII, 610682 (3)	CRTAP, CASP, OI7	605497	3p22.3
Osteogenesis imperfecta, type VIII, 610915 (3)	P3H1, LEPRE1, GROS1, OI8	610339	1p34.2
Osteogenesis imperfecta, type X, 613848 (3)	SERPINH1, SERPINH2, PPROM, CBP2, CBP1, OI10	600943	11q13.5
Osteogenesis imperfecta, type XI, 610968 (3)	FKBP10, FKBP65, OI11, BRKS1	607063	17q21.2
Osteogenesis imperfecta, type XII, 613849 (3)	SP7, OSX, OI12	606633	12q13.13
Osteogenesis imperfecta, type XIII, 614856 (3)	BMP1, OI13	112264	8p21.3
Osteogenesis imperfecta, type XIV, 615066 (3)	TMEM38B, TRICB, OI14	611236	9q31.2
Osteogenesis imperfecta, type XIX, 301014 (3)	MBTPS2, S2P, IFAP, KFSDX, OLMSX, OI19	300294	Xp22.12
Osteogenesis imperfecta, type XV, 615220 (3)	WNT1, INT1, OI15, BMND16	164820	12q13.12
Osteogenesis imperfecta, type XVI, 616229 (3)	CREB3L1, OASIS, OI16	616215	11p11.2
Osteogenesis imperfecta, type XVII, 616507 (3)	SPARC, ON, OI17	182120	5q33.1
Osteogenesis imperfecta, type XVIII, 617952 (3)	TENT5A, FAM46A, C6orf37, OI18	611357	6q14.1
Osteogenesis imperfecta, type XX, 618644 (3)	MESD, MESDC2, BOCA, KIAA0081, OI20	607783	15q25.1
Osteogenesis imperfecta, type XXI, 619131 (3)	KDELR2, ELP1, OI21	609024	7p22.1
Osteogenesis imperfecta, type XXII, 619795 (3)	CCDC134, OI22	618788	22q13.2
Osteoglophonic dysplasia, 166250 (3)	FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL	136350	8p11.23
Osteolysis, familial expansile, 174810 (3)	TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2	603499	18q21.33
Osteootohepatoenteric syndrome, 619377 (3)	UNC45A, SMAP1, GCUNC45, OOHE	611219	15q26.1
Osteopathia striata with cranial sclerosis, 300373 (3)	AMER1, FAM123B, WTX, OSCS	300647	Xq11.2
Osteopetrosis, autosomal dominant 1, 607634 (3)	LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4	603506	11q13.2
Osteopetrosis, autosomal dominant 2, 166600 (3)	CLCN7, CLC7, OPTA2, OPTB4, HOD	602727	16p13.3
Osteopetrosis, autosomal dominant 3, 618107 (3)	PLEKHM1, AP162, KIAA0356, OPTB6, OPTA3	611466	17q21.31
Osteopetrosis, autosomal recessive 1, 259700 (3)	TCIRG1, TIRC7, OC116, OPTB1	604592	11q13.2
Osteopetrosis, autosomal recessive 2, 259710 (3)	TNFSF11, OPGL, TRANCE, OPTB2	602642	13q14.11
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)	CA2	611492	8q21.2
Osteopetrosis, autosomal recessive 4, 611490 (3)	CLCN7, CLC7, OPTA2, OPTB4, HOD	602727	16p13.3
Osteopetrosis, autosomal recessive 5, 259720 (3)	OSTM1, GL, OPTB5	607649	6q21
Osteopetrosis, autosomal recessive 7, 612301 (3)	TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2	603499	18q21.33
Osteopetrosis, autosomal recessive 8, 615085 (3)	SNX10, OPTB8	614780	7p15.2
Osteopoikilosis with or without melorheostosis, 166700 (3)	LEMD3, MAN1	607844	12q14.3
Osteoporosis-pseudoglioma syndrome, 259770 (3)	LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4	603506	11q13.2
Osteosarcoma, somatic, 259500 (3)	CHEK2, RAD53, CHK2, CDS1, LFS2	604373	22q12.1
Osteosarcoma, somatic, 259500 (3)	RB1	614041	13q14.2
Osteosclerosis, 144750 (3)	LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4	603506	11q13.2
Osteosclerotic metaphyseal dysplasia, 615198 (3)	LRRK1, OSMD	610986	15q26.3
Otodental dysplasia chromosome deletion syndrome (4)	OTDD, DEL11q13, C11DELq13	166750	11q13
Otofaciocervical syndrome 2, 615560 (3)	PAX1, OFC2	167411	20p11.22
Otopalatodigital syndrome, type I, 311300 (3)	FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2	300017	Xq28
Otopalatodigital syndrome, type II, 304120 (3)	FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2	300017	Xq28
Otosclerosis 1 (2)	OTSC1, OTS	166800	15q26.1-qter
Otosclerosis 10 (2)	OTSC10	615589	1q41-q44
Otosclerosis 2 (2)	OTSC2	605727	7q34-q36
Otosclerosis 3 (2)	OTSC3	608244	6p22.3-p21.3
Otosclerosis 5 (2)	OTSC5	608787	3q22-q24
Otosclerosis 7 (2)	OTSC7	611572	6q13-q16.1
Otosclerosis 8 (2)	OTSC8	612096	9p13.1-q21.11
Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3)	COL11A2, DFNA13, DFNB53, FBCG2, OSMEDA, OSMEDB	120290	6p21.32
Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)	COL11A2, DFNA13, DFNB53, FBCG2, OSMEDA, OSMEDB	120290	6p21.32
Ovalocytosis, SA type, 166900 (3)	SLC4A1, AE1, EPB3, SPH4, SAO, CHC	109270	17q21.31
Ovarian cancer, somatic, 167000 (3)	AKT1, CWS6	164730	14q32.33
Ovarian cancer, somatic, 167000 (3)	CDH1, UVO, LCAM, ECAD, BCDS1	192090	16q22.1
Ovarian cancer, somatic, 167000 (3)	CTNNB1, NEDSDV, EVR7	116806	3p22.1
Ovarian cancer, somatic, 167000 (3)	ERBB2, NGL, NEU, HER2, VSCN2	164870	17q12
Ovarian cancer, somatic, 167000 (3)	OPCML	600632	11q25
Ovarian cancer, somatic, 167000 (3)	PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO, CCM4	171834	3q26.32
Ovarian cancer, somatic, 167000 (3)	PRKN, PARK2, PDJ	602544	6q26
Ovarian carcinoma (3)	RRAS2, TC21, NS12	600098	11p15.2
Ovarian dysgenesis 1, 233300 (3)	FSHR, ODG1	136435	2p16.3
Ovarian dysgenesis 2, 300510 (3)	BMP15, GDF9B, ODG2, POF4	300247	Xp11.22
Ovarian dysgenesis 3, 614324 (3)	PSMC3IP, TBPIP, GT198, HOP2, ODG3	608665	17q21.2
Ovarian dysgenesis 4, 616185 (3)	MCM9, MCMDC1, ODG4	610098	6q22.31
Ovarian dysgenesis 5, 617690 (3)	SOHLH1, NOHLH, TEB2, ODG5, SPGF32	610224	9q34.3
Ovarian dysgenesis 7, 618117 (3)	MRPS22, C3orf5, COXPD5, ODG7	605810	3q23
Ovarian dysgenesis 9, 619665 (3)	SPIDR, KIAA0146, ODG9	615384	8q11.21
Ovarian hyperstimulation syndrome, 608115 (3)	FSHR, ODG1	136435	2p16.3
Ovarian response to FSH stimulation, 276400 (3)	FSHR, ODG1	136435	2p16.3
Ovarioleukodystrophy, 603896 (3)	EIF2B2	606454	14q24.3
Ovarioleukodystrophy, 603896 (3)	EIF2B4	606687	2p23.3
Ovarioleukodystrophy, 603896 (3)	EIF2B5, LVWM, CACH, CLE	603945	3q27.1
Overhydrated hereditary stomatocytosis, 185000 (3)	RHAG, RH50A, OHST, RHNR	180297	6p12.3
PCWH syndrome, 609136 (3)	SOX10, WS4, WS4C, PCWH	602229	22q13.1
PEHO syndrome, 260565 (3)	ZNHIT3, TRIP3, PEHO	604500	17q12
PEPCK deficiency, mitochondrial, 261650 (1)	PCK2, PEPCK2	614095	14q11.2-q12
PERCHING syndrome, 617055 (3)	KLHL7, RP42, PERCHING	611119	7p15.3
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, 618737 (3)	TUBGCP2, GCP2, GRIP103, SPC97, ALP4, PAMDDFS	617817	10q26.3
Pachyonychia congenita 1, 167200 (3)	KRT16, FNEPPK, PC1	148067	17q21.2
Pachyonychia congenita 2, 167210 (3)	KRT17, PC2, PCHC1	148069	17q21.2
Pachyonychia congenita 3, 615726 (3)	KRT6A, PC3	148041	12q13.13
Pachyonychia congenita 4, 615728 (3)	KRT6B, PC4	148042	12q13.13
Paget disease of bone 3, 167250 (3)	SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV	601530	5q35.3
Paget disease of bone 4 (2)	PDB4	606263	5q31
Paget disease of bone 5, juvenile-onset, 239000 (3)	TNFRSF11B, OPG, OCIF, PDB5	602643	8q24.12
Paget disease of bone 6, 616833 (3)	ZNF687, KIAA1441, PDB6	610568	1q21.3
Pallister-Hall syndrome, 146510 (3)	GLI3, PAPA, PAPB	165240	7p14.1
Pallister-Hall-like syndrome, 241800 (3)	SMO, SMOH, CRJS, PHLS	601500	7q32.1
Pallister-Killian syndrome (4)	PKS	601803	12p
Palmoplantar carcinoma, multiple self-healing (2)	MSPC	616964	17p13.3-p12
Palmoplantar carcinoma, multiple self-healing, 615225 (3)	NLRP1, NALP1, KIAA0926, DEFCAP, CARD7, VAMAS1, MSPC, AIADK, JRRP	606636	17p13.2
Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3)	RSPO1, FLJ40906	609595	1p34.3
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3)	RSPO1, FLJ40906	609595	1p34.3
Palmoplantar keratoderma and woolly hair, 616099 (3)	KANK2, ANKRD25, KIAA1518, PPKWH, NPHS16	614610	19p13.2
Palmoplantar keratoderma with congenital alopecia, 104100 (3)	GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP3	121014	6q22.31
Palmoplantar keratoderma, Bothnian type, 600231 (3)	AQP5, PPKB	600442	12q13.12
Palmoplantar keratoderma, Nagashima type, 615598 (3)	SERPINB7, MEGSIN, PPKN	603357	18q21.33
Palmoplantar keratoderma, epidermolytic, 144200 (3)	KRT1, EPPK, NEPPK, EHK	139350	12q13.13
Palmoplantar keratoderma, epidermolytic, 144200 (3)	KRT9, EPPK	607606	17q21.2
Palmoplantar keratoderma, nonepidermolytic, 600962 (3)	KRT1, EPPK, NEPPK, EHK	139350	12q13.13
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3)	KRT6C, PPKNEFD	612315	12q13.13
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)	KRT16, FNEPPK, PC1	148067	17q21.2
Panbronchiolitis, diffuse (2)	PBLT	604809	6p21.3
Pancreatic agenesis 1, 260370 (3)	PDX1, IPF1, MODY4, PAGEN1	600733	13q12.2
Pancreatic agenesis 2, 615935 (3)	PTF1A, PACA, PAGEN2	607194	10p12.2
Pancreatic agenesis and congenital heart defects, 600001 (3)	GATA6, AVSD5, ASD9, PACHD	601656	18q11.2
Pancreatic and cerebellar agenesis, 609069 (3)	PTF1A, PACA, PAGEN2	607194	10p12.2
Pancreatic cancer, somatic (3)	ACVR1B, ACVRLK4, ALK4	601300	12q13.13
Pancreatic cancer, somatic 260350 (3)	TP53, P53, LFS1 , BCC7, BMFS5	191170	17p13.1
Pancreatic cancer, somatic, 260350 (3)	SMAD4, MADH4, DPC4, JIP, MYHRS	600993	18q21.2
Pancreatic cancer, somatic, 260350 (3)	STK11, PJS, LKB1	602216	19p13.3
Pancreatic carcinoma, somatic (3)	RBBP8, RIM, SCKL2, JWDS	604124	18q11.2
Pancreatic carcinoma, somatic, 260350 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	190070	12p12.1
Pancreatitis, hereditary, 167800 (3)	PRSS1, TRY1	276000	7q34
Pancreatitis, hereditary, 167800 (3)	SPINK1, PSTI, PCTT, TATI, TCP	167790	5q32
Panhypopituitarism, X-linked, 312000 (3)	SOX3, MRGH	313430	Xq27.1
Panic disorder 2 (2)	PAND2	607853	9q31
Panic disorder 3 (2)	PAND3	609985	4q31-q34
Panic disorder syndrome 1 (2)	PAND1	167870	13q22-q32
Papillon-Lefevre syndrome, 245000 (3)	CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD	602365	11q14.2
Papillorenal syndrome, 120330 (3)	PAX2, PAPRS, FSGS7	167409	10q24.31
Paraganglioma and gastric stromal sarcoma, 606864 (3)	SDHB, SDH2, SDHIP, PGL4, MC2DN4	185470	1p36.13
Paraganglioma and gastric stromal sarcoma, 606864 (3)	SDHC, PGL3	602413	1q23.3
Paraganglioma and gastric stromal sarcoma, 606864 (3)	SDHD, PGL1, MC2DN3	602690	11q23.1
Paragangliomas 1, with or without deafness, 168000 (3)	SDHD, PGL1, MC2DN3	602690	11q23.1
Paragangliomas 2, 601650 (3)	SDHAF2, SDH5, PGL2	613019	11q12.2
Paragangliomas 3, 605373 (3)	SDHC, PGL3	602413	1q23.3
Paragangliomas 4, 115310 (3)	SDHB, SDH2, SDHIP, PGL4, MC2DN4	185470	1p36.13
Paragangliomas 5, 614165 (3)	SDHA, SDH1, SDHF, CMD1GG, PGL5, MC2DN1, NDAXOA	600857	5p15.33
Paragangliomas 6, 618464 (3)	SLC25A11, SLC20A4, OGC, PGL6	604165	17p13.2
Paragangliomas 7, 618475 (3)	DLST, PGL7	126063	14q24.3
Paramyotonia congenita, 168300 (3)	SCN4A, HYPP, NAC1A, HOKPP2, CMS16	603967	17q23.3
Parasomnia, sleepwalking type (2)	PSMNSW	613938	20q12-q13.12
Parastremmatic dwarfism, 168400 (3)	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3	605427	12q24.11
Parathyroid adenoma with cystic changes, 145001 (3)	CDC73, HRPT2, C1orf28	607393	1q31.2
Parathyroid adenoma, somatic (3)	MEN1	613733	11q13.1
Parathyroid carcinoma, 608266 (3)	CDC73, HRPT2, C1orf28	607393	1q31.2
Parenti-Mignot neurodevelopmental syndrome, 610771 (3)	CHD5, PMNDS	610771	1p36.31
Parietal foramina 1, 168500 (3)	MSX2, CRS2, HOX8	123101	5q35.2
Parietal foramina 2, 609597 (3)	ALX4, PFM2, FPP, FND2, CRS5	605420	11p11.2
Parietal foramina 3 (2)	PFM3	609566	4q21-q23
Parietal foramina with cleidocranial dysplasia, 168550 (3)	MSX2, CRS2, HOX8	123101	5q35.2
Parkinson disease 1, 168601 (3)	SNCA, NACP, PARK1, PARK4	163890	4q22.1
Parkinson disease 14, autosomal recessive, 612953 (3)	PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14	603604	22q13.1
Parkinson disease 15, autosomal recessive, 260300 (3)	FBXO7, FBX7, FBX, PKPS, PARK15	605648	22q12.3
Parkinson disease 19a, juvenile-onset, 615528 (3)	DNAJC6, DJC6, KIAA0473, PARK19	608375	1p31.3
Parkinson disease 19b, early-onset, 615528 (3)	DNAJC6, DJC6, KIAA0473, PARK19	608375	1p31.3
Parkinson disease 20, early-onset, 615530 (3)	SYNJ1, PARK20, DEE53	604297	21q22.11
Parkinson disease 21 (2)	PARK21	616361	3q22
Parkinson disease 22, autosomal dominant, 616710 (3)	CHCHD2, PARK22	616244	7p11.2
Parkinson disease 23, autosomal recessive, early onset, 616840 (3)	VPS13C, KIAA1421, PARK23	608879	15q22.2
Parkinson disease 4, 605543 (3)	SNCA, NACP, PARK1, PARK4	163890	4q22.1
Parkinson disease 6, early onset, 605909 (3)	PINK1, PARK6	608309	1p36.12
Parkinson disease 7, autosomal recessive early-onset, 606324 (3)	DJ1, PARK7	602533	1p36.23
Parkinson disease, juvenile, type 2, 600116 (3)	PRKN, PARK2, PDJ	602544	6q26
Parkinsonism with polyneuropathy, 619279 (3)	UQCRC1, PKNPY	191328	3p21.31
Parkinsonism-dystonia 3, childhood-onset, 619738 (3)	WARS2, NEMMLAS, PKDYS3	604733	1p12
Parkinsonism-dystonia, infantile, 1, 613135 (3)	SLC6A3, DAT1, PKDYS1	126455	5p15.33
Paroxysmal extreme pain disorder, 167400 (3)	SCN9A, NENA, PN1, SFNP, HSAN2D	603415	2q24.3
Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3)	PIGA, PNH1, MCAHS2, NEDEPH	311770	Xp22.2
Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3)	PNKD, R1, TAHCCP2, KIPP1184, BRP17, FPD1, PDC, DYT8	609023	2q35
Paroxysmal nonkinesigenic dyskinesia 2 (2)	PNKD2	611147	2q31
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3)	KCNMA1, SLO, PNKD3, CADEDS, IEG16, LIWAS	600150	10q22.3
Partington syndrome, 309510 (3)	ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32	300382	Xp21.3
Patella aplasia or hypoplasia (2)	PTLAH, FPAH	168860	17q21-q22
Patent ductus arteriosus 2, 617035 (3)	TFAP2B, CHAR, PDA2	601601	6p12.3
Patent ductus arteriosus 3, 617039 (3)	PRDM6, PRISM, PDA3	616982	5q23.2
Peeling skin syndrome 1, 270300 (3)	CDSN, HTSS1, HYPT2, PSS1	602593	6p21.33
Peeling skin syndrome 2, 609796 (3)	TGM5, TGX, PSS2	603805	15q15.2
Peeling skin syndrome 4, 607936 (3)	CSTA, STFA, STF1, AREI, PSS4	184600	3q21.1
Peeling skin syndrome 5, 617115 (3)	SERPINB8, PI8, CAP2, PSS5	601697	18q22.1
Peeling skin syndrome 6, 618084 (3)	FLG2, IFPS, PSS6	616284	1q21.3
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)	CAST, PLACK	114090	5q15
Pelger-Huet anomaly, 169400 (3)	LBR, PHA, PHASK	600024	1q42.12
Pelizaeus-Merzbacher disease, 312080 (3)	PLP1, PMD, HLD1, SPG2	300401	Xq22.2
Pendred syndrome, 274600 (3)	SLC26A4, PDS, DFNB4, EVA, TDH2B	605646	7q22.3
Periodic fever, familial, 142680 (3)	TNFRSF1A, TNFR1, TNFAR, FPF, MS5	191190	12p13.31
Periodic fever, immunodeficiency, and thrombocytopenia syndrome, 150550 (3)	WDR1, PFITS	604734	4p16.1
Periodic fever, menstrual cycle dependent, 614674 (3)	HTR1A, ADRB2RL1, PFMCD	109760	5q12.3
Periodontitis 1, juvenile, 170650 (3)	CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD	602365	11q14.2
Periodontitis, aggressive, 2 (2)	PDON2	608526	1q25
Peripheral arterial occlusive disease 1 (2)	PAOD1	606787	1p31
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)	MCM3AP, MAP80, GANP, PNRIID	603294	21q22.3
Periventricular heterotopia with microcephaly, 608097 (3)	ARFGEF2, BIG2, PVNH2	605371	20q13.13
Periventricular nodular heterotopia 3 (2)	PVNH3	608098	5p15.1
Periventricular nodular heterotopia 5 (4)	PVNH5	612881	5q14.3-q15
Periventricular nodular heterotopia 7, 617201 (3)	NEDD4L, KIAA0439, RSP5, PVNH7	606384	18q21.31
Periventricular nodular heterotopia 8, 618185 (3)	ARF1, PVNH8	103180	1q42.13
Periventricular nodular heterotopia 9, 618918 (3)	MAP1B, PVNH9, DFNA83	157129	5q13.2
Perlman syndrome, 267000 (3)	DIS3L2, PRLMNS	614184	2q37.1
Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)	ACOX1, ACOX, SCOX, MITCH	609751	17q25.1
Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3)	FAR1, MLSTD2, PFCRD, CSPSD	616107	11p15.3
Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3)	PEX3, PBD10A, PBD10B	603164	6q24.2
Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3)	PEX13, ZWS, NALD, PBD11A, PBD11B	601789	2p15
Peroxisome biogenesis disorder 11B, 614885 (3)	PEX13, ZWS, NALD, PBD11A, PBD11B	601789	2p15
Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3)	PEX19, PXF, HK33, D1S2223E, PBD12A	600279	1q23.2
Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3)	PEX14, PBD13A	601791	1p36.22
Peroxisome biogenesis disorder 14B, 614920 (3)	PEX11B, PEX14B	603867	1q21.1
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)	PEX1, ZWS1, PBD1A, PBD1B, HMLR1	602136	7q21.2
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)	PEX1, ZWS1, PBD1A, PBD1B, HMLR1	602136	7q21.2
Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3)	PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5	600414	12p13.31
Peroxisome biogenesis disorder 2B, 202370 (3)	PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5	600414	12p13.31
Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3)	PEX12, PBD3A	601758	17q12
Peroxisome biogenesis disorder 3B, 266510 (3)	PEX12, PBD3A	601758	17q12
Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3)	PEX6, PXAAA1, PAF2, PBD4A, PDB4B, HMLR2	601498	6p21.1
Peroxisome biogenesis disorder 4B, 614863 (3)	PEX6, PXAAA1, PAF2, PBD4A, PDB4B, HMLR2	601498	6p21.1
Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)	PEX2, PAF1, PMP35, PBD5A, PBD5B, PXMP3	170993	8q21.13
Peroxisome biogenesis disorder 5B, 614867 (3)	PEX2, PAF1, PMP35, PBD5A, PBD5B, PXMP3	170993	8q21.13
Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3)	PEX10, NALD, PBD6A, PBD6B	602859	1p36.32
Peroxisome biogenesis disorder 6B, 614871 (3)	PEX10, NALD, PBD6A, PBD6B	602859	1p36.32
Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3)	PEX26, PBD7A, PBD7B	608666	22q11.21
Peroxisome biogenesis disorder 7B, 614873 (3)	PEX26, PBD7A, PBD7B	608666	22q11.21
Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3)	PEX16, PBD8A, PBD8B	603360	11p11.2
Peroxisome biogenesis disorder 8B, 614877 (3)	PEX16, PBD8A, PBD8B	603360	11p11.2
Peroxisome biogenesis disorder 9B, 614879 (3)	PEX7, RCDP1, PBD9B	601757	6q23.3
Perrault syndrome 1, 233400 (3)	HSD17B4, PRLTS1	601860	5q23.1
Perrault syndrome 2, 614926 (3)	HARS2, HARSL, HARSR, HO3, PRLTS2	600783	5q31.3
Perrault syndrome 3, 614129 (3)	CLPP, PRLTS3, DFNB81	601119	19p13.3
Perrault syndrome 4, 615300 (3)	LARS2, PRLTS4, HLASA	604544	3p21.31
Perrault syndrome 5, 616138 (3)	TWNK, C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5	606075	10q24.31
Perrault syndrome 6, 617565 (3)	ERAL1, ERAL1A, ERAL1B, PRLTS6	607435	17q11.2
Perry syndrome, 168605 (3)	DCTN1, HMN7B	601143	2p13.1
Persistent Mullerian duct syndrome, type I, 261550 (3)	AMH, MIF	600957	19p13.3
Persistent Mullerian duct syndrome, type II, 261550 (3)	AMHR2, AMHR	600956	12q13.13
Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)	ATOH7, PHPVAR, NCRNA	609875	10q21.3
Persistent truncus arteriosus, 217095 (3)	GATA6, AVSD5, ASD9, PACHD	601656	18q11.2
Persistent truncus arteriosus, 217095 (3)	NKX2-6, CSX2, CTHM	611770	8p21.2
Peters-plus syndrome, 261540 (3)	B3GLCT, B3GALTL, B3GTL	610308	13q12.3
Pettigrew syndrome, 304340 (3)	AP1S2, MRX59, MRXSF, MRXS21, MRXS5, PGS	300629	Xp22.2
Peutz-Jeghers syndrome, 175200 (3)	STK11, PJS, LKB1	602216	19p13.3
Pfeiffer syndrome, 101600 (3)	FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL	136350	8p11.23
Pfeiffer syndrome, 101600 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Phelan-McDermid syndrome, 606232 (3)	SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3, SCZD15	606230	22q13.33
Phenylketonuria, 261600 (3)	PAH, PKU1	612349	12q23.2
Pheochromocytoma, 171300 (3)	KIF1B, CMT2A, CMT2A1, NBLST1	605995	1p36.22
Pheochromocytoma, 171300 (3)	RET, MEN2A, HSCR1	164761	10q11.21
Pheochromocytoma, 171300 (3)	SDHB, SDH2, SDHIP, PGL4, MC2DN4	185470	1p36.13
Pheochromocytoma, 171300 (3)	SDHD, PGL1, MC2DN3	602690	11q23.1
Pheochromocytoma, 171300 (3)	VHL	608537	3p25.3
Phobia, specific (2)	PHOBS	608251	Chr.14
Phosphoglycerate dehydrogenase deficiency, 601815 (3)	PHGDH, NLS1, PHGDHD	606879	1p12
Phosphoglycerate kinase 1 deficiency, 300653 (3)	PGK1, PGKA	311800	Xq21.1
Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3)	PRPS1, CMTX5, DFNX1, DFN2	311850	Xq22.3
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)	PHKB	172490	16q12.1
Phosphoserine phosphatase deficiency, 614023 (3)	PSPH, PSP, PSPHD	172480	7p11.2
Photoparoxysmal response 1 (2)	PPR1	132100	6p21.1
Photoparoxysmal response 2 (2)	PPR2	609572	13q31.3
Photoparoxysmal response 3 (2)	PPR3	609573	7q32
Pick disease, 172700 (3)	MAPT, MTBT1, DDPAC, MSTD	157140	17q21.31
Pick disease, 172700 (3)	PSEN1, AD3, ACNINV3	104311	14q24.2
Piebaldism, 172800 (3)	KIT, PBT, MASTC	164920	4q12
Piebaldism, 172800 (3)	SNAI2, SLUG, WS2D	602150	8q11.21
Pierpont syndrome, 602342 (3)	TBL1XR1, TBLR1, IRA1, C21, MRD41	608628	3q26.32
Pierre Robin syndrome (2)	PRBNS	261800	17q24.3-q25.1
Pierson syndrome, 609049 (3)	LAMB2, LAMS, NPHS5, PIERS	150325	3p21.31
Pigment dispersion syndrome (2)	GPDS1, PDS1	600510	7q35-q36
Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3)	POLA1, VEODS	312040	Xp22.11-p21.3
Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)	PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1	188830	17q24.2
Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)	PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2	604961	2q31.2
Pigmented nodular adrenocortical disease, primary, 3, 614190 (3)	PDE8B, PPNAD3, ADSD	603390	5q13.3
Pigmented nodular adrenocortical disease, primary, 4 (4)	PPNAD4	615830	19p13
Pigmented paravenous chorioretinal atrophy, 172870 (3)	CRB1, RP12, LCA8	604210	1q31.3
Pilarowski-Bjornsson syndrome, 617682 (3)	CHD1, PILBOS	602118	5q15-q21.1
Pilomatricoma, somatic, 132600 (3)	CTNNB1, NEDSDV, EVR7	116806	3p22.1
Pitt-Hopkins like syndrome 1, 610042 (3)	CNTNAP2, CASPR2, NRXN4, AUTS15, PTHSL1	604569	7q35-q36.1
Pitt-Hopkins syndrome, 610954 (3)	TCF4, SEF2, ITF2, PTHS, FECD3	602272	18q21.2
Pitt-Hopkins-like syndrome 2, 614325 (3)	NRXN1, PTHSL2, SCZD17	600565	2p16.3
Pituitary adenoma 1, multiple types, 102200 (3)	AIP, XAP2, ARA9, PITA1	605555	11q13.2
Pituitary adenoma 2, GH-secreting, 300943 (3)	GPR101, PAGH2, PITA2	300393	Xq26.3
Pituitary adenoma 3, multiple types, somatic, 617686 (3)	GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3	139320	20q13.32
Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)	USP8, HUMORF8, PITA4	603158	15q21.2
Pituitary adenoma predisposition, 102200 (3)	AIP, XAP2, ARA9, PITA1	605555	11q13.2
Pituitary adenoma, ACTH-secreting, somatic (3)	GNAI2, GNAI2B, GIP	139360	3p21.31
Pituitary hormone deficiency, combined or isolated, 1, 613038 (3)	POU1F1, PIT1, CPHD1	173110	3p11.2
Pituitary hormone deficiency, combined or isolated, 7, 618160 (3)	RNPC3, SNRNP65, KIAA1839, CPHD7	618016	1p21.1
Pituitary hormone deficiency, combined, 2, 262600 (3)	PROP1, CPHD2	601538	5q35.3
Pituitary hormone deficiency, combined, 3, 221750 (3)	LHX3, CPHD3	600577	9q34.3
Pituitary hormone deficiency, combined, 4, 262700 (3)	LHX4, CPHD4	602146	1q25.2
Pituitary hormone deficiency, combined, 5, 182230 (3)	HESX1, RPX, CPHD5	601802	3p14.3
Pituitary hormone deficiency, combined, 6, 613986 (3)	OTX2, MCOPS5, CPHD6	600037	14q22.3
Pituitary tumor, invasive (3)	PRKCA, PKCA	176960	17q24.2
Pityriasis rubra pilaris, 173200 (3)	CARD14, CARMA2, BIMP2, PSORS2, PSS1, PRP	607211	17q25.3
Plasma triglyceride level QTL, low, 615881 (3)	ANGPTL4, PGAR, HFARP, FIAF, TGQTL	605910	19p13.2
Plasminogen activator inhibitor-1 deficiency, 613329 (3)	PAI1, PLANH1, SERPINE1	173360	7q22.1
Plasminogen deficiency, type I, 217090 (3)	PLG, HAE4	173350	6q26
Platelet PLC beta-2 deficiency (1)	PLCB2	604114	15q15.1
Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)	RUNX1, CBFA2, AML1	151385	21q22.12
Platelet glycoprotein IV deficiency, 608404 (3)	CD36, CHDS7, BDPLT10	173510	7q21.11
Platelet-activating factor acetylhydrolase deficiency, 614278 (3)	PLA2G7, PAFAH, PAFAD	601690	6p12.3
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)	COL2A1	120140	12q13.11
Pleuropulmonary blastoma, 601200 (3)	DICER1, HERNA, KIAA0928, MNG1, RMSE2, GLOW	606241	14q32.13
Pneumothorax, primary spontaneous, 173600 (3)	FLCN, BHD	607273	17p11.2
Poikiloderma with neutropenia, 604173 (3)	USB1, C16orf57, PN	613276	16q21
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3)	FAM111B, POIKTMP	615584	11q12.1
Poirier-Bienvenu neurodevelopmental syndrome, 618732 (3)	CSNK2B, POBINDS	115441	6p21.33
Polycystic kidney disease 1, 173900 (3)	PKD1	601313	16p13.3
Polycystic kidney disease 2, 613095 (3)	PKD2	173910	4q22.1
Polycystic kidney disease 3, 600666 (3)	GANAB, PKD3	104160	11q12.3
Polycystic kidney disease 4, with or without hepatic disease, 263200 (3)	FCYT, PKHD1, ARPKD, PKD4	606702	6p12.3-p12.2
Polycystic kidney disease 5, 617610 (3)	DZIP1L, DZIP2, PKD5	617570	3q22.3
Polycystic kidney disease 6 with or without polycystic liver disease, 618061 (3)	DNAJB11, HEDJ, DJ9, ABBP2, PKD6	611341	3q27.3
Polycystic kidney disease, infantile severe, with tuberous sclerosis (4)	PKDTS	600273	16p13.3
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 (3)	TYROBP, DAP12, PLOSL1	604142	19q13.12
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 (3)	TREM2, PLOSL2	605086	6p21.1
Polycystic liver disease 1, 174050 (3)	PRKCSH, G19P1, PCLD1	177060	19p13.2
Polycystic liver disease 2, 617004 (3)	SEC63, PCLD2	608648	6q21
Polycystic liver disease 3 with or without kidney cysts, 617874 (3)	ALG8, CDG1H, PCLD3	608103	11q14.1
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)	LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4	603506	11q13.2
Polycystic ovary syndrome 1 (2)	PCOS1, PCO1, PCO	184700	19p13.2
Polycythemia vera, somatic, 263300 (3)	JAK2, THCYT3	147796	9p24.1
Polydactyly, postaxial, type A10, 618498 (3)	KIAA0825, PAPA10	617266	5q15
Polydactyly, postaxial, type A3 (2)	PAPA3	607324	19p13.2-p13.1
Polydactyly, postaxial, type A4 (2)	PAPA4	608562	7q22
Polydactyly, postaxial, type A5 (2)	PAPA5	263450	13q13.3-q21
Polydactyly, postaxial, type A7, 617642 (3)	IQCE, KIAA1023, PAPA7	617631	7p22.3
Polydactyly, postaxial, type A8, 618123 (3)	GLI1, PAPA8, PPD1	165220	12q13.3
Polydactyly, postaxial, types A1 and B, 174200 (3)	GLI3, PAPA, PAPB	165240	7p14.1
Polydactyly, preaxial I, 174400 (3)	GLI1, PAPA8, PPD1	165220	12q13.3
Polydactyly, preaxial type II, 174500 (3)	LMBR1, ACHP, C7orf2, PPD2, THYP, LSS	605522	7q36.3
Polydactyly, preaxial, type IV, 174700 (3)	GLI3, PAPA, PAPB	165240	7p14.1
Polyglucosan body disease, adult form, 263570 (3)	GBE1, GSD4, APBD	607839	3p12.2
Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)	RBCK1, HOIL1, PGBM1, PBMEI, C20orf18	610924	20p13
Polyglucosan body myopathy 2, 616199 (3)	GYG1, GSD15	603942	3q24
Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3)	STRADA, STRAD, LYK5	608626	17q23.3
Polymicrogyria with or without vascular-type EDS, 618343 (3)	COL3A1, EDSVASC, PMGEDSV	120180	2q32.2
Polymicrogyria, bilateral frontoparietal, 606854 (3)	ADGRG1, GPR56, TM7XN1, BFPP, BPPR	604110	16q21
Polymicrogyria, bilateral perisylvian (2)	BPP, PMGX, CBPS	300388	Xq27.2-q28
Polymicrogyria, bilateral perisylvian, 615752 (3)	ADGRG1, GPR56, TM7XN1, BFPP, BPPR	604110	16q21
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)	PI4KA, PIK4CA, PMGYCHA, SPG84, GIDID2	600286	22q11.21
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)	ABHD12, PHARC	613599	20p11.21
Polyposis syndrome, hereditary mixed 1 (4)	HMPS1, CRAC1, CRCS4, DUP15q, C15DUPq	601228	15q15.3-q22.1
Polyposis syndrome, hereditary mixed, 2, 610069 (3)	BMPR1A, ACVRLK3, ALK3	601299	10q23.2
Polyposis, juvenile intestinal, 174900 (3)	BMPR1A, ACVRLK3, ALK3	601299	10q23.2
Polyposis, juvenile intestinal, 174900 (3)	SMAD4, MADH4, DPC4, JIP, MYHRS	600993	18q21.2
Pontocerebellar hypoplasia type 1A, 607596 (3)	VRK1, PCH1A	602168	14q32.2
Pontocerebellar hypoplasia type 2A, 277470 (3)	TSEN54, SEN54, PCH2A, PCH4, PCH5	608755	17q25.1
Pontocerebellar hypoplasia type 2B, 612389 (3)	TSEN2, SEN2, PCH2B	608753	3p25.2
Pontocerebellar hypoplasia type 2D, 613811 (3)	SEPSECS, SLA, LP, PCH2D	613009	4p15.2
Pontocerebellar hypoplasia type 4, 225753 (3)	TSEN54, SEN54, PCH2A, PCH4, PCH5	608755	17q25.1
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, 618810 (3)	ATAD3A, HAYOS, PHRINL	612316	1p36.33
Pontocerebellar hypoplasia, type 10, 615803 (3)	CLP1, HEAB, PCH10	608757	11q12.1
Pontocerebellar hypoplasia, type 11, 617695 (3)	TBC1D23, PCH11	617687	3q12.1-q12.2
Pontocerebellar hypoplasia, type 12, 618266 (3)	COASY, NBIA6, PCH12	609855	17q21.2
Pontocerebellar hypoplasia, type 13, 618606 (3)	VPS51, ANG2, PCH13	615738	11q13.1
Pontocerebellar hypoplasia, type 14, 619301 (3)	PPIL1, CYPL1, PCH14	601301	6p21.2
Pontocerebellar hypoplasia, type 16, 619527 (3)	MINPP1, HIPER1, PCH16	605391	10q23.2
Pontocerebellar hypoplasia, type 1B, 614678 (3)	EXOSC3, RRP40, PCH1B	606489	9p13.2
Pontocerebellar hypoplasia, type 1C, 616081 (3)	EXOSC8, OIP2, RRP43, PCH1C	606019	13q13.3
Pontocerebellar hypoplasia, type 1D, 618065 (3)	EXOSC9, PMSCL1, PCH1D	606180	4q27
Pontocerebellar hypoplasia, type 1E, 619303 (3)	SLC25A46, HMSN6B, PCH1E	610826	5q22.1
Pontocerebellar hypoplasia, type 2E, 615851 (3)	VPS53, HCCS1, PCH2E	615850	17p13.3
Pontocerebellar hypoplasia, type 2F, 617026 (3)	TSEN15, SEN15, C1orf19, PCH2F	608756	1q25.3
Pontocerebellar hypoplasia, type 6, 611523 (3)	RARS2, RARSL, PCH6	611524	6q15
Pontocerebellar hypoplasia, type 7, 614969 (3)	TOE1, PCH7	613931	1p34.1
Pontocerebellar hypoplasia, type 8, 614961 (3)	CHMP1A, PCOLN3, PRSM1, PCH8	164010	16q24.3
Pontocerebellar hypoplasia, type 9, 615809 (3)	AMPD2, SPG63, PCH9	102771	1p13.3
Popliteal pterygium syndrome 1, 119500 (3)	IRF6, VWS1, LPS, PIT, PPS1, OFC6	607199	1q32.2
Popliteal pterygium syndrome, Bartsocas-Papas type 1, 263650 (3)	RIPK4, NKRD3, DIK, PPS2, CHANDS	605706	21q22.3
Poretti-Boltshauser syndrome, 615960 (3)	LAMA1, PTBHS	150320	18p11.31
Porokeratosis 1, multiple types, 175800 (3)	PMVK, PMK, POROK1	607622	1q21.3
Porokeratosis 2, palmar, plantar, and disseminated (2)	POROK2, PPPD1	175850	12q24.1-q24.2
Porokeratosis 3, multiple types, 175900 (3)	MVK, MVLK, POROK3	251170	12q24.11
Porokeratosis 4, disseminated superficial actinic (2)	POROK4, DSAP2	607728	15q25.1-q26.1
Porokeratosis 5, disseminated superficial actinic (2)	POROK5, DSAP3	612293	1p31.3-p31.1
Porokeratosis 6, multiple types (2)	POROK6, DSAP4	612353	18p11.3
Porokeratosis 7, multiple types, 614714 (3)	MVD, MPD, POROK7	603236	16q24.2
Porokeratosis 8, disseminated superficial actinic type, 616063 (3)	SLC17A9, C20orf59, POROK8	612107	20q13.33
Porokeratosis 9, multiple types, 616631 (3)	FDPS, FPS, POROK9	134629	1q22
Porphyria cutanea tarda, 176100 (3)	UROD	613521	1p34.1
Porphyria variegata, 176200 (3)	PPOX	600923	1q23.3
Porphyria, acute hepatic, 612740 (3)	ALAD, ALADH, PBGS	125270	9q32
Porphyria, acute intermittent, 176000 (3)	HMBS, PBGD, UPS	609806	11q23.3
Porphyria, acute intermittent, nonerythroid variant, 176000 (3)	HMBS, PBGD, UPS	609806	11q23.3
Porphyria, congenital erythropoietic, 263700 (3)	UROS	606938	10q26.2
Porphyria, hepatoerythropoietic, 176100 (3)	UROD	613521	1p34.1
Portal hypertension, noncirrhotic, 1 617068 (3)	DGUOK, DGK, MTDPS3, PEOB4, NCPH1	601465	2p13.1
Portal hypertension, noncirrhotic, 2, 619463 (3)	GIMAP5, IAN4L1, IMAP3, NCPH2	608086	7q36.1
Postaxial polydactyly, type A2 (2)	PAPA2	602085	13q21-q32
Potocki-Lupski syndrome (4)	PTLS	610883	17p11.2
Potocki-Shaffer syndrome (4)	PSS	601224	11p11.2
Prader-Willi syndrome, 176270 (3)	NDN	602117	15q11.2
Prader-Willi syndrome, 176270 (3)	SNRPN	182279	15q11.2
Preauricular tag, isolated, autosomal dominant, 1 (2)	PAURT1	610420	14q11.2-q12
Precocious puberty, central, 2, 615346 (3)	MKRN3, ZFP127, ZNF127, CPPB2	603856	15q11.2
Precocious puberty, male, 176410 (3)	LHCGR, LHR, LCGR	152790	2p16.3
Preeclampsia/eclampsia 1 (2)	PEE1, PREG1	189800	2p13
Preeclampsia/eclampsia 2 (2)	PEE2	609402	2p25
Preeclampsia/eclampsia 3 (2)	PEE3	609403	9p13
Preeclampsia/eclampsia 4, 609404 (3)	STOX1, PEE4	609397	10q22.1
Preeclampsia/eclampsia 5, 614595 (3)	CORIN, CRN, TMPRSS10, ATC2, PEE5	605236	4p12
Pregnancy loss, recurrent, 4, 270960 (3)	SYCP3, SCP3, COR1, SPGF4, RPRGL4	604759	12q23.2
Preimplantation embryonic lethality 2, 617234 (3)	PADI6, PREMBL2	610363	1p36.13
Preimplantation embryonic lethality, 616814 (3)	TLE6, GRG6, PREMBL	612399	19p13.3
Premature aging syndrome, Penttinen type, 601812 (3)	PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS	173410	5q32
Premature ovarian failure 1, 311360 (3)	FMR1, FRAXA, POF1	309550	Xq27.3
Premature ovarian failure 11, 616946 (3)	ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11	609413	10q11.23
Premature ovarian failure 19, 619245 (3)	HSF2BP, POF19	604554	21q22.3
Premature ovarian failure 3, 608996 (3)	FOXL2, BPES, BPES1, PFRK, POF3	605597	3q22.3
Premature ovarian failure 4, 300510 (3)	BMP15, GDF9B, ODG2, POF4	300247	Xp11.22
Premature ovarian failure 5, 611548 (3)	NOBOX, POF5	610934	7q35
Premature ovarian failure 6, 612310 (3)	FIGLA, POF6	608697	2p13.3
Premature ovarian failure 7, 612964 (3)	NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8, SRXX4	184757	9q33.3
Premature ovarian failure 8, 615723 (3)	STAG3, POF8, SPGF61	608489	7q22.1
Premature ovarian failure 9, 615724 (3)	HFM1, MER3, POF9	615684	1p22.2
Prieto syndrome (2)	PRS, MRXS2	309610	Xp11-q21
Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)	CACNA1D, CACNL1A2, CCHL1A2, SANDD, PASNA	114206	3p21.1
Primary lateral sclerosis, adult, 1 (2)	PLSA1, PLSA	611637	4p16
Primary lateral sclerosis, juvenile, 606353 (3)	ALS2, ALSJ, PLSJ, IAHSP	606352	2q33.1
Primrose syndrome, 259050 (3)	ZBTB20, ZNF288, DPZF, PRIMS	606025	3q13.31
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3)	SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12A, PEOA2	103220	4q35.1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3)	TWNK, C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5	606075	10q24.31
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)	POLG2, POLGB, PEOA4, MTDPS16A, MTDPS16B	604983	17q23.3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)	RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B, RCDFRD	604712	8q22.3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)	DNA2, DNA2L, KIAA0083, PEOA6, SCKL8	601810	10q21.3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3)	RNASEH1, PEOB2	604123	2p25.3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3)	DGUOK, DGK, MTDPS3, PEOB4, NCPH1	601465	2p13.1
Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3)	POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS	174763	15q26.1
Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)	POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS	174763	15q26.1
Progressive familial heart block, type IB, 604559 (3)	TRPM4, PFHB1B, EKVP6	606936	19q13.33
Progressive familial heart block, type II (2)	PFHB2	140400	1q32
Progressive pseudorheumatoid dysplasia, 208230 (3)	CCN6, WISP3, PPAC, PPRD	603400	6q21
Proguanil poor metabolizer, 609535 (3)	CYP2C, CYP2C19	124020	10q23.33
Prolidase deficiency, 170100 (3)	PEPD	613230	19q13.11
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)	FLVCR2, C14orf58, CCT, PVHH, EPV	610865	14q24.3
Properdin deficiency, X-linked, 312060 (3)	PFC, PFD	300383	Xp11.23
Propionicacidemia, 606054 (3)	PCCA	232000	13q32.3
Propionicacidemia, 606054 (3)	PCCB	232050	3q22.3
Prostate adenocarcinoma (2)	ST12, PAC1	601188	10pter-q11
Prostate cancer 1, 601518 (3)	RNASEL, RNS4, PRCA1, HPC1	180435	1q25.3
Prostate cancer, somatic, 176807 (3)	KLF6, COPEB, BCD1, ZF9	602053	10p15.2
Prostate cancer, somatic, 176807 (3)	MAD1L1, TXBP181	602686	7p22.3
Prostate cancer, somatic, 176807 (3)	MXI1	600020	10q25.2
Prostate cancer, somatic, 176807 (3)	PTEN, MMAC1, GLM2, CWS1	601728	10q23.31
Prostate cancer, somatic, 176807 (3)	ZFHX3, ATBF1	104155	16q22.2-q22.3
Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3)	PSMB8, LMP7, RING10, JMP, NKJO, ALDD, PRAAS1	177046	6p21.32
Proteasome-associated autoinflammatory syndrome 2, 618048 (3)	POMP, UMP1, PRAAS2	613386	13q12.3
Proteasome-associated autoinflammatory syndrome 5, 619175 (3)	PSMB10, MECL1, LMP10, PRAAS5	176847	16q22.1
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)	CLCN5, CLCK2, NPHL2, DENT1, NPHL1	300008	Xp11.23
Proteus syndrome, somatic, 176920 (3)	AKT1, CWS6	164730	14q32.33
Protoporphyria, erythropoietic, 1, 177000 (3)	FECH, FCE, EPP1	612386	18q21.31
Protoporphyria, erythropoietic, X-linked, 300752 (3)	ALAS2, ANH1, ASB, XLEPP, XLSA, SIDBA1	301300	Xp11.21
Proud syndrome, 300004 (3)	ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32	300382	Xp21.3
Proximal myopathy and ophthalmoplegia, 605637 (3)	MYH2, MYPOP	160740	17p13.1
Prune belly syndrome, 100100 (3)	CHRM3, PBS, EGBRS	118494	1q43
Pseudo-TORCH syndrome 1, 251290 (3)	OCLN, BLCPMG, PTORCH1	602876	5q13.2
Pseudo-TORCH syndrome 2, 617397 (3)	USP18, UBP43, ISG43, PTORCH2	607057	22q11.21
Pseudo-TORCH syndrome 3, 618886 (3)	STAT2, IMD44, PTORCH3	600556	12q13.3
Pseudoachondroplasia, 177170 (3)	COMP, EDM1, MED, PSACH, CTS2	600310	19p13.11
Pseudohermaphroditism, male, with gynecomastia, 264300 (3)	HSD17B3, EDH17B3	605573	9q22.32
Pseudohyperkalemia, familial, 2, due to red cell leak (2)	PSHK2	609153	2q35-q36
Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3)	ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2	605452	2q35
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)	NR3C2, MLR, MCR	600983	4q31.23
Pseudohypoaldosteronism, type I, 264350 (3)	SCNN1A, BESC2, LIDLS3	600228	12p13.31
Pseudohypoaldosteronism, type I, 264350 (3)	SCNN1B, BESC1, LIDLS1	600760	16p12.2
Pseudohypoaldosteronism, type I, 264350 (3)	SCNN1G, PHA1, BESC3, LDLS2	600761	16p12.2
Pseudohypoaldosteronism, type IIA (2)	PHA2A, PHA2	145260	1q31-q42
Pseudohypoaldosteronism, type IIB, 614491 (3)	WNK4, PRKWNK4, PHA2B	601844	17q21.2
Pseudohypoaldosteronism, type IIC, 614492 (3)	WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2	605232	12p13.33
Pseudohypoaldosteronism, type IID, 614495 (3)	KLHL3, PHA2D	605775	5q31.2
Pseudohypoaldosteronism, type IIE, 614496 (3)	CUL3, PHA2E, NEDAUS	603136	2q36.2
Pseudohypoparathyroidism Ia, 103580 (3)	GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3	139320	20q13.32
Pseudohypoparathyroidism Ib, 603233 (3)	GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3	139320	20q13.32
Pseudohypoparathyroidism Ic, 612462 (3)	GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3	139320	20q13.32
Pseudohypoparathyroidism, type IB, 603233 (3)	GNASAS1, GNASAS, SANG, NESPAS	610540	20q13.32
Pseudohypoparathyroidism, type IB, 603233 (3)	STX16, SYN16	603666	20q13.32
Pseudopseudohypoparathyroidism, 612463 (3)	GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3	139320	20q13.32
Pseudovaginal perineoscrotal hypospadias, 264600 (3)	SRD5A2	607306	2p23.1
Pseudoxanthoma elasticum, 264800 (3)	ABCC6, ARA, ABC34, MLP1, PXE, GACI2	603234	16p13.11
Pseudoxanthoma elasticum, forme fruste, 177850 (3)	ABCC6, ARA, ABC34, MLP1, PXE, GACI2	603234	16p13.11
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3)	GGCX, VKCFD1	137167	2p11.2
Psoriasis 14, pustular, 614204 (3)	IL36RN, IL1F5, FIL1D, IL1HY1, IL1RP3, PSORP, PSORS14	605507	2q14.1
Psoriasis 2, 602723 (3)	CARD14, CARMA2, BIMP2, PSORS2, PSS1, PRP	607211	17q25.3
Ptosis, hereditary congenital 2 (2)	PTOS2, PTOSX	300245	Xq24-q27.1
Ptosis, hereditary congenital, 1 (2)	PTOS1	178300	1p34.1-p32
Pulmonary alveolar microlithiasis, 265100 (3)	SLC34A2, PULAM	604217	4p15.2
Pulmonary disease, chronic obstructive, severe early-onset (2)	COPD	606963	2q
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742 (3)	TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9	187270	5p15.33
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)	RTEL1, C20orf41, NHL, KIAA1088, DKCB5, DKCA4, PFBMFT3	608833	20q13.33
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3)	PARN, DAN, DKCB6, PFBMFT4	604212	16p13.12
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, 619767 (3)	RPA1, PFBMFT6	179835	17p13.3
Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3)	BMPR2, PPH1, POVD1	600799	2q33.1-q33.2
Pulmonary hypertension, primary, 2, 615342 (3)	MADH9, SMAD9, MADH6, PPH2	603295	13q13.3
Pulmonary hypertension, primary, 3, 615343 (3)	CAV1, BSCL3, CGL3, PPH3, LCCNS	601047	7q31.2
Pulmonary hypertension, primary, 4, 615344 (3)	KCNK3, TASK, PPH4	603220	2p23.3
Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3)	BMPR2, PPH1, POVD1	600799	2q33.1-q33.2
Pulmonary venoocclusive disease 1, 265450 (3)	BMPR2, PPH1, POVD1	600799	2q33.1-q33.2
Pulmonary venoocclusive disease 2, 234810 (3)	EIF2AK4, GCN2, KIAA1338, PVOD2	609280	15q15.1
Purpura, posttransfusion (3)	ITGB3, GP3A, GT2, BDPLT24	173470	17q21.32
Pycnodysostosis, 265800 (3)	CTSK	601105	1q21.3
Pyle disease, 265900 (3)	SFRP4, FRPHE, PYL	606570	7p14.1
Pyloric stenosis, infantile hypertrophic 1 (2)	IHPS1, IHPS	179010	12q
Pyloric stenosis, infantile hypertrophic, 2 (2)	IHPS2	610260	16p13-p12
Pyloric stenosis, infantile hypertrophic, 3 (2)	IHPS3	612017	11q14-q22
Pyloric stenosis, infantile hypertrophic, 4 (2)	IHPS4	300711	Xq23
Pyloric stenosis, infantile hypertrophic, 5 (2)	IHPS5	612525	16q24.3
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3)	PSTPIP1, PSTPIP, CD2BP1, PAPAS	606347	15q24.3
Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)	PNPO	603287	17q21.32
Pyropoikilocytosis, 266140 (3)	SPTA1, EL2, SPH3, HS3, HPP	182860	1q23.1
Pyruvate carboxylase deficiency, 266150 (3)	PC	608786	11q13.2
Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)	PDHA1, PHE1A, PDHAD	300502	Xp22.12
Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)	PDHB, PDHBD	179060	3p14.3
Pyruvate dehydrogenase E2 deficiency, 245348 (3)	DLAT, PDCE2	608770	11q23.1
Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)	PDP1, PPM2C, PDPC	605993	8q22.1
Pyruvate kinase deficiency, 266200 (3)	PKLR, PK1	609712	1q22
Quebec platelet disorder, 601709 (3)	PLAU, URK, QPD, BDPLT5	191840	10q22.2
Question mark ears, isolated, 612798 (3)	EDN1, ARCND3, QME, HDLCQ7	131240	6p24.1
RAPADILINO syndrome, 266280 (3)	RECQL4, RTS, RECQ4	603780	8q24.3
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	190070	12p12.1
RIDDLE syndrome, 611943 (3)	RNF168, RIDL	612688	3q29
ROSAH syndrome, 614979 (3)	ALPK1, LAK, KIAA1527, ROSAH	607347	4q25
Rabson-Mendenhall syndrome, 262190 (3)	INSR, HHF5	147670	19p13.2
Radial ray deficiency (2)	RRDX	300378	Xq24-q25
Radiation sensitivity/chromosome instability syndrome, autosomal dominant (1)	RSCIS	605463	14q11.2
Radio-Tartaglia syndrome, 619312 (3)	SPEN, MINT, SHARP, HIAA0929, RATARS	613484	1p36.21-p36.13
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 (3)	HOXA11, HOX1I, RUSAT1	142958	7p15.2
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3)	MECOM, EVI1, RUSAT2	165215	3q26.2
Rafiq syndrome, 614202 (3)	MAN1B1, MRT15	604346	9q34.3
Rahman syndrome, 617537 (3)	H1-4, HIST1H1E, H1F4, RMNS	142220	6p22.2
Raine syndrome, 259775 (3)	FAM20C, DMP4	611061	7p22.3
Rajab interstitial lung disease with brain calcifications 1, 613658 (3)	FARSB, FARSLB, RILDBC1	609690	2q36.1
Rapp-Hodgkin syndrome, 129400 (3)	TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8	603273	3q28
Rauch-Steindl syndrome, 619695 (3)	NSD2, WHSC1, MMSET, RAUST	602952	4p16.3
Raynaud-Claes syndrome, 300114 (3)	CLCN4, MRX49, MRX15, MRXSRC	302910	Xp22.2
Recombination rate QTL 1, 612042 (3)	RNF212, ZHP3, SPGF62	612041	4p16.3
Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3)	FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B, FCMSU	300163	Xq26.3
Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3)	FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B, FCMSU	300163	Xq26.3
Refsum disease, 266500 (3)	PHYH, PAHX	602026	10p13
Renal carcinoma, chromophobe, somatic, 144700 (3)	FLCN, BHD	607273	17p11.2
Renal cell carcinoma, 144700 (3)	HNF1A, TCF1, MODY3, IDDM20	142410	12q24.31
Renal cell carcinoma, 144700 (3)	RNF139, TRC8, RCA1	603046	8q24.13
Renal cell carcinoma, clear cell, somatic, 144700 (3)	OGG1	601982	3p25.3
Renal cell carcinoma, papillary, 1, 300854 (3)	TFE3, RCCX1, MRXSPF	314310	Xp11.23
Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)	MET, DFNB97, OSFD	164860	7q31.2
Renal cell carcinoma, papillary, 605074 (3)	PRCC, RCCP1	179755	1q23.1
Renal cell carcinoma, somatic, 144700 (3)	VHL	608537	3p25.3
Renal cysts and diabetes syndrome, 137920 (3)	HNF1B, TCF2, HNF2, RCAD, T2D, ADTKD3	189907	17q12
Renal glucosuria, 233100 (3)	SLC5A2, SGLT2	182381	16p11.2
Renal hypodysplasia/aplasia 1, 191830 (3)	ITGA8, RHDA1	604063	10p13
Renal hypodysplasia/aplasia 3, 617805 (3)	GREB1L, C18orf6, KIAA1772, RHDA3, DFNA80	617782	18q11.1-q11.2
Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)	SLC4A4, NBC1, KNBC	603345	4q13.3
Renal tubular dysgenesis, 267430 (3)	ACE, DCP1, ACE1, MVCD3, ICH	106180	17q23.3
Renal tubular dysgenesis, 267430 (3)	AGT, SERPINA8	106150	1q42.2
Renal tubular dysgenesis, 267430 (3)	AGTR1, AGTR1A, AT2R1	106165	3q24
Renal tubular dysgenesis, 267430 (3)	REN, RTD, ADTKD4	179820	1q32.1
Renal-hepatic-pancreatic dysplasia 1, 208540 (3)	NPHP3, NPH3, RHPD1, MKS7	608002	3q22.1
Renal-hepatic-pancreatic dysplasia 2, 615415 (3)	NEK8, JCK, NPHP9, RHPD2	609799	17q11.2
Renpenning syndrome, 309500 (3)	PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8	300463	Xp11.23
Restrictive dermopathy 1, 275210 (3)	ZMPSTE24, FACE1, STE24, MADB, RSDM1	606480	1p34.2
Restrictive dermopathy 2, 619793 (3)	LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS	150330	1q22
Reticular dysgenesis, 267500 (3)	AK2	103020	1p35.1
Reticulate acropigmentation of Kitamura, 615537 (3)	ADAM10, MADM, RAK, AD18	602192	15q21.3
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)	IGFBP7, MAC25, RAMSVPS	602867	4q12
Retinal cone dystrophy 3, 610024 (3)	PDE6H, RCD3, ACHM6	601190	12p12.3
Retinal cone dystrophy 3B, 610356 (3)	KCNV2, KV11.1, RCD3B	607604	9p24.2
Retinal cone dystrophy 4, 610478 (3)	CACNA2D4, RCD4	608171	12p13.33
Retinal degeneration, autosomal recessive, clumped pigment type (3)	NRL, D14S46E, RP27	162080	14q11.2-q12
Retinal degeneration, late-onset, autosomal dominant, 605670 (3)	C1QTNF5, CTRP5, LORD	608752	11q23.3
Retinal dystrophy and microvillus inclusion disease, 619446 (3)	STX3, STX3A, DIAR12, MVID2, RDMVID	600876	11q12.1
Retinal dystrophy with leukodystrophy, 618863 (3)	ACBD5, KIAA1996, RDLKD	616618	10p12.1
Retinal dystrophy with macular staphyloma, 617547 (3)	CFAP410, C21orf2, SMDAX, RDMS	603191	21q22.3
Retinal dystrophy with or without extraocular anomalies, 617175 (3)	RCBTB1, CLLD7, GLP, RDEOA	607867	13q14.2
Retinal dystrophy, early-onset severe, 248200 (3)	ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2	601691	1p22.1
Retinal dystrophy, early-onset severe, 613341 (3)	LRAT, LCA14	604863	4q32.1
Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3)	OTX2, MCOPS5, CPHD6	600037	14q22.3
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3)	RBP4, RDCCAS, MCOPCB10	180250	10q23.33
Retinitis pigmentosa 1, 180100 (3)	RP1, ORP1	603937	8q11.23-q12.1
Retinitis pigmentosa 10, 180105 (3)	IMPDH1, RP10, LCA11	146690	7q32.1
Retinitis pigmentosa 11, 600138 (3)	PRPF31, PRP31, RP11	606419	19q13.42
Retinitis pigmentosa 13, 600059 (3)	PRPF8, PRPC8, RP13	607300	17p13.3
Retinitis pigmentosa 14, 600132 (3)	TULP1, RP14, LCA15	602280	6p21.31
Retinitis pigmentosa 17 (4)	RP17	600852	17q23.2
Retinitis pigmentosa 18, 601414 (3)	PRPF3, HPRP3, RP18	607301	1q21.2
Retinitis pigmentosa 19, 601718 (3)	ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2	601691	1p22.1
Retinitis pigmentosa 2, 312600 (3)	RP2	300757	Xp11.3
Retinitis pigmentosa 20, 613794 (3)	RPE65, RP20, LCA2	180069	1p31.3
Retinitis pigmentosa 22 (2)	RP22	602594	16p12.3-p12.1
Retinitis pigmentosa 24 (2)	RP24	300155	Xq26-q27
Retinitis pigmentosa 25, 602772 (3)	EYS, RP25	612424	6q12
Retinitis pigmentosa 26, 608380 (3)	CERKL, RP26	608381	2q31.3
Retinitis pigmentosa 27, 613750 (3)	NRL, D14S46E, RP27	162080	14q11.2-q12
Retinitis pigmentosa 28, 606068 (3)	FAM161A, RP28	613596	2p15
Retinitis pigmentosa 29 (2)	RP29	612165	4q32-q34
Retinitis pigmentosa 3, 300029 (3)	RPGR, RP3, CRD, RP15, COD1, CORDX1	312610	Xp11.4
Retinitis pigmentosa 30, 607921 (3)	FSCN2, RFSN, RP30	607643	17q25.3
Retinitis pigmentosa 31, 609923 (3)	TOPORS, P53BP3, LUN, RP31	609507	9p21.1
Retinitis pigmentosa 32, 609913 (3)	CLCC1, MCLC, RP32	617539	1p13.3
Retinitis pigmentosa 33, 610359 (3)	SNRNP200, ASCC3L1, KIAA0788, RP33	601664	2q11.2
Retinitis pigmentosa 34 (2)	RP34	300605	Xq28
Retinitis pigmentosa 35, 610282 (3)	SEMA4A, SEMB, RP35, CORD10	607292	1q22
Retinitis pigmentosa 36, 610599 (3)	PRCD, RP36	610598	17q25.1
Retinitis pigmentosa 37, 611131 (3)	NR2E3, PNR, ESCS, RP37	604485	15q23
Retinitis pigmentosa 38, 613862 (3)	MERTK, RP38	604705	2q13
Retinitis pigmentosa 39, 613809 (3)	USH2A, RP39	608400	1q41
Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3)	RHO, RP4, OPN2, CSNBAD1	180380	3q22.1
Retinitis pigmentosa 41, 612095 (3)	PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4	604365	4p15.32
Retinitis pigmentosa 42, 612943 (3)	KLHL7, RP42, PERCHING	611119	7p15.3
Retinitis pigmentosa 43, 613810 (3)	PDE6A, PDEA, RP43	180071	5q32
Retinitis pigmentosa 44, 613769 (3)	RGR, RP44	600342	10q23.1
Retinitis pigmentosa 45, 613767 (3)	CNGB1, CNCG3L, CNCG2, RP45	600724	16q21
Retinitis pigmentosa 46, 612572 (3)	IDH3B, RP46	604526	20p13
Retinitis pigmentosa 47, 613758 (3)	SAG, RP47	181031	2q37.1
Retinitis pigmentosa 48, 613827 (3)	GUCA1B, GCAP2, GUCA2, RP48	602275	6p21.1
Retinitis pigmentosa 49, 613756 (3)	CNGA1, CNCG1, RP49	123825	4p12
Retinitis pigmentosa 54, 613428 (3)	PCARE, C2orf71, RP54	613425	2p23.2
Retinitis pigmentosa 55, 613575 (3)	ARL6, BBS3, RP55	608845	3q11.2
Retinitis pigmentosa 56, 613581 (3)	IMPG2, IPM200, RP56, VMD5	607056	3q12.3
Retinitis pigmentosa 57, 613582 (3)	PDE6G, PDEG, RP57	180073	17q25.3
Retinitis pigmentosa 59, 613861 (3)	DHDDS, HDS, RP59, DEDSM	608172	1p36.11
Retinitis pigmentosa 60, 613983 (3)	PRPF6, PRP6, ANT1, TOM, C20orf14	613979	20q13.33
Retinitis pigmentosa 61, 614180 (3)	CLRN1, USH3A, USH3, RP61	606397	3q25.1
Retinitis pigmentosa 62, 614181 (3)	MAK, RP62	154235	6p24.2
Retinitis pigmentosa 63 (2)	RP63	614494	6q23
Retinitis pigmentosa 64, 614500 (3)	CFAP418, C8orf37, CORD16, RP64, BBS21	614477	8q22.1
Retinitis pigmentosa 65, 613660 (3)	CDHR1, PCDH21, PRCAD, CORD15, RP65	609502	10q23.1
Retinitis pigmentosa 68, 615725 (3)	SLC7A14, KIAA1613, RP68	615720	3q26.2
Retinitis pigmentosa 69, 615780 (3)	KIZ, KIZUNA, C20orf19, RP69	615757	20p11.23
Retinitis pigmentosa 7 and digenic form, 608133 (3)	PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1	179605	6p21.1
Retinitis pigmentosa 7, digenic form, 608133 (3)	ROM1, ROSP1, RP7	180721	11q12.3
Retinitis pigmentosa 70, 615922 (3)	PRPF4, PRP4, HPRP4, RP70	607795	9q32
Retinitis pigmentosa 71, 616394 (3)	IFT172, SLB, KIAA1179, SRTD10, RP71, BBS20	607386	2p23.3
Retinitis pigmentosa 72, 616469 (3)	ZNF408, EVR6, RP72	616454	11p11.2
Retinitis pigmentosa 73, 616544 (3)	HGSNAT, TMEM76, MPS3C, RP73	610453	8p11.21-p11.1
Retinitis pigmentosa 74, 616562 (3)	BBS2, RP74	606151	16q13
Retinitis pigmentosa 75, 617023 (3)	AGBL5, CCP5, RP75	615900	2p23.3
Retinitis pigmentosa 76, 617123 (3)	POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76, LGMDR15	606822	1p34.1
Retinitis pigmentosa 77, 617304 (3)	REEP6, DP1L1, TB2L1, C19orf32, RP77	609346	19p13.3
Retinitis pigmentosa 78, 617433 (3)	ARHGEF18, KIAA0521, RP78	616432	19p13.2
Retinitis pigmentosa 79, 617460 (3)	HK1, HKD, HMSNR, RP79, NEDVIBA	142600	10q22.1
Retinitis pigmentosa 80, 617781 (3)	IFT140, KIAA0590, SRTD9, MZSDS, RP80	614620	16p13.3
Retinitis pigmentosa 83, 618173 (3)	ARL3, ARFL3, JBTS35, RP83	604695	10q24.32
Retinitis pigmentosa 84, 618220 (3)	DHX38, DDX38, PRP16, RP84	605584	16q22.2
Retinitis pigmentosa 86, 618613 (3)	KIAA1549, RP86	613344	7q34
Retinitis pigmentosa 87 with choroidal involvement, 618697 (3)	RPE65, RP20, LCA2	180069	1p31.3
Retinitis pigmentosa 88, 618826 (3)	RP1L1, OCMD, RP88	608581	8p23.1
Retinitis pigmentosa 89, 618955 (3)	KIF3B, KIAA0359, RP89	603754	20q11.21
Retinitis pigmentosa 90, 619007 (3)	IDH3A, RP90	601149	15q25.1
Retinitis pigmentosa 91, 153870 (3)	IMPG1, IPM150, VMD4, RP91	602870	6q14.1
Retinitis pigmentosa 92, 619614 (3)	HKDC1, RP92	617221	10q22.1
Retinitis pigmentosa 93, 619845 (3)	CC2D2A, KIAA1345, MKS6, COACH2, RP93	612013	4p15.32
Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)	TRNT1, SIFD, RPEM	612907	3p26.2
Retinitis pigmentosa with or without situs inversus, 615434 (3)	ARL2BP, BART	615407	16q13
Retinitis pigmentosa with or without skeletal anomalies, 250410 (3)	CWC27, SDCCAG10, RPSKA	617170	5q12.3
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)	RPGR, RP3, CRD, RP15, COD1, CORDX1	312610	Xp11.4
Retinitis pigmentosa, Y-linked (2)	RPY	400004	Chr.Y
Retinitis pigmentosa, concentric, 613194 (3)	BEST1, VMD2, ARB, RP50	607854	11q12.3
Retinitis pigmentosa, juvenile, 604393 (3)	AIPL1, LCA4	604392	17p13.2
Retinitis pigmentosa, juvenile, 613341 (3)	LRAT, LCA14	604863	4q32.1
Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)	SPATA7, HSD3, LCA3	609868	14q31.3
Retinitis pigmentosa-12, 600105 (3)	CRB1, RP12, LCA8	604210	1q31.3
Retinitis pigmentosa-40, 613801 (3)	PDE6B, PDEB, RP40, CSNBAD2	180072	4p16.3
Retinitis pigmentosa-50, 613194 (3)	BEST1, VMD2, ARB, RP50	607854	11q12.3
Retinitis punctata albescens, 136880 (3)	PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1	179605	6p21.1
Retinitis punctata albescens, 136880 (3)	RHO, RP4, OPN2, CSNBAD1	180380	3q22.1
Retinitis punctata albescens, 136880 (3)	RLBP1	180090	15q26.1
Retinoblastoma, 180200 (3)	RB1	614041	13q14.2
Retinoblastoma, trilateral, 180200 (3)	RB1	614041	13q14.2
Retinopathy of prematurity, 133780 (3)	FZD4, EVR1	604579	11q14.2
Retinoschisis, 312700 (3)	RS1, XLRS1	300839	Xp22.13
Rett syndrome, 312750 (3)	MECP2, RTT, PPMX, AUTSX3, MRXSL, MRXS13	300005	Xq28
Rett syndrome, atypical, 312750 (3)	MECP2, RTT, PPMX, AUTSX3, MRXSL, MRXS13	300005	Xq28
Rett syndrome, congenital variant, 613454 (3)	FOXG1, FOXG1B, FKHL1, FKH2, QIN, BF1	164874	14q12
Rett syndrome, preserved speech variant, 312750 (3)	MECP2, RTT, PPMX, AUTSX3, MRXSL, MRXS13	300005	Xq28
Revesz syndrome, 268130 (3)	TINF2, TIN2, DKCA3	604319	14q12
Rh-null disease, amorph type, 617970 (3)	RHCE, RHNA	111700	1p36.11
Rhabdoid tumors, somatic, 609322 (3)	SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3	601607	22q11.23
Rhabdomyosarcoma 2, alveolar, 268220 (3)	PAX3, WS1, HUP2, CDHS, WS3	606597	2q36.1
Rhabdomyosarcoma 2, alveolar, 268220 (3)	PAX7, RMS2, MYOSCO	167410	1p36.13
Rhabdomyosarcoma, alveolar, 268220 (3)	FOXO1A, FKHR	136533	13q14.11
Rhabdomyosarcoma, embryonal, 2, 180295 (3)	DICER1, HERNA, KIAA0928, MNG1, RMSE2, GLOW	606241	14q32.13
Rhabdomyosarcoma, somatic, 268210 (3)	SLC22A1L, BWSCR1A, IMPT1	602631	11p15.4
Rhizomelic chondrodysplasia punctata, type 1, 215100 (3)	PEX7, RCDP1, PBD9B	601757	6q23.3
Rhizomelic chondrodysplasia punctata, type 2, 222765 (3)	GNPAT, DHAPAT, RCDP2	602744	1q42.2
Rhizomelic chondrodysplasia punctata, type 3, 600121 (3)	AGPS, ADHAPS, RCDP3	603051	2q31.2
Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)	PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5	600414	12p13.31
Rhizomelic limb shortening with dysmorphic features, 618821 (3)	PKDCC, VLK, SGK493, RLSDF	614150	2p21
Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly, 618019 (3)	LBR, PHA, PHASK	600024	1q42.12
Riboflavin deficiency, 615026 (3)	SLC52A1, GPR172B, GPCR42, PAR2, FLJ10060, RBFVD	607883	17p13.2
Ribose 5-phosphate isomerase deficiency, 608611 (3)	RPIA, RPI, RPIAD	180430	2p11.2
Rickets due to defect in vitamin D 25-hydroxylation deficiency, 600081 (3)	CYP2R1	608713	11p15.2
Rickets, vitamin D-resistant, type IIA, 277440 (3)	VDR	601769	12q13.11
Rieger syndrome, type 2 (2)	RIEG2, RGS2	601499	13q14
Right atrial isomerism (Ivemark), 208530 (3)	GDF1, DTGA3, DORV, RAI, CHTD6	602880	19p13.11
Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)	BRAT1, BAAT1, C7orf27, RMFSL, NEDCAS	614506	7p22.3
Ring chromosome 14 syndrome (4)	RC14S	616606	Chr.14
Ring dermoid of cornea, 180550 (3)	PITX2, IDG2, RIEG1, RGS, IGDS2, ASGD4	601542	4q25
Rippling muscle disease 2, 606072 (3)	CAV3, LQT9, MPDT, RMD2	601253	3p25.3
Rippling muscle disease-1 (2)	RMD1	600332	1q41
Ritscher-Schinzel syndrome 1, 220210 (3)	WASHC5, KIAA0196, SPG8, RTSC1	610657	8q24.13
Ritscher-Schinzel syndrome 2, 300963 (3)	CCDC22, RTSC2	300859	Xp11.23
Ritscher-Schinzel syndrome 3, 619135 (3)	VPS36L, C16orf62, EC97, RTSC3	618981	16p12.3
Ritscher-Schinzel syndrome 4, 619435 (3)	DPYSL5, CRMP5, CRAM, RTSC4	608383	2p23.3
Roberts-SC phocomelia syndrome, 268300 (3)	ESCO2, RBS, JHS	609353	8p21.1
Robin sequence with cleft mandible and limb anomalies, 268305 (3)	EIF4A3, DDX48, MUK34, NMP265, KIAA0111, RCPS	608546	17q25.3
Robinow syndrome, autosomal dominant 1, 180700 (3)	WNT5A	164975	3p14.3
Robinow syndrome, autosomal dominant 2, 616331 (3)	DVL1, DRS2	601365	1p36.33
Robinow syndrome, autosomal dominant 3, 616894 (3)	DVL3, DRS3	601368	3q27.1
Robinow syndrome, autosomal recessive 2, 618529 (3)	NXN, RRS2	612895	17p13.3
Robinow syndrome, autosomal recessive, 268310 (3)	ROR2, BDB1, BDB, NTRKR2	602337	9q22.31
Robinow-Sorauf syndrome, 180750 (3)	TWIST1, ACS3, SCS, CRS1, SWCOS	601622	7p21.1
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, 268315 (3)	RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B, RCDFRD	604712	8q22.3
Roifman syndrome, 616651 (3)	RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN, LWS	601428	2q14.2
Rothmund-Thomson syndrome, type 1, 618625 (3)	ANAPC1, APC1	608473	2q13
Rothmund-Thomson syndrome, type 2, 268400 (3)	RECQL4, RTS, RECQ4	603780	8q24.3
Roussy-Levy syndrome, 180800 (3)	MPZ, CMT1B, CMTDID, DSS, CHN2	159440	1q23.3
Roussy-Levy syndrome, 180800 (3)	PMP22, CMT1A, CMT1E, DSS, CIDP	601097	17p12
Rubinstein-Taybi syndrome 1, 180849 (3)	CREBBP, CBP, RSTS1, MKHK1	600140	16p13.3
Rubinstein-Taybi syndrome 2, 613684 (3)	EP300, RSTS2, MKHK2	602700	22q13.2
Ruijs-Aalfs syndrome, 616200 (3)	SPRTN, DVC1, C1orf124, RJALS	616086	1q42.2
SADDAN, 616482 (3)	FGFR3, ACH	134934	4p16.3
SBBYSS syndrome, 603736 (3)	KAT6B, MYST4, MORF, GTPTS	605880	10q22.2
SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)	JAK3, JAKL	600173	19p13.11
SED congenita, 183900 (3)	COL2A1	120140	12q13.11
SED, Maroteaux type, 184095 (3)	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3	605427	12q24.11
SESAME syndrome, 612780 (3)	KCNJ10, SESAME	602208	1q23.2
SHORT syndrome, 269880 (3)	PIK3R1, GRB1, AGM7, SHORT, IMD36	171833	5q13.1
SIMHA syndrome, 619557 (3)	ZNF407, SIMHA	615894	18q22.3
SMED Strudwick type, 184250 (3)	COL2A1	120140	12q13.11
STAR syndrome, 300707 (3)	FAM58A, STAR	300708	Xq28
STING-associated vasculopathy, infantile-onset, 615934 (3)	STING1, TMEM173, MPYS, SAVI	612374	5q31.2
Sacral agenesis with vertebral anomalies, 615709 (3)	TBXT, T, TFT, SAVA	601397	6q27
Saethre-Chotzen syndrome with or without eyelid anomalies, 101400 (3)	TWIST1, ACS3, SCS, CRS1, SWCOS	601622	7p21.1
Saethre-Chotzen syndrome, 101400 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Salih myopathy, 611705 (3)	TTN, CMD1G, TMD, LGMDR10, MPRM, HMERF, SALMY	188840	2q31.2
Salla disease, 604369 (3)	SLC17A5, SIASD, SLD	604322	6q13
Salt and pepper developmental regression syndrome, 609056 (3)	SIAT9, ST3GALV, SPDRS	604402	2p11.2
Sandestig-Stefanova syndrome, 618804 (3)	NUP188, KIAA1069, SANDSTEF	615587	9q34.11
Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)	HEXB	606873	5q13.3
Sarcoma, synovial (1)	SS18, SSXT, SYT	600192	18q11.2
Saul-Wilson syndrome, 618150 (3)	COG4, COD1, CDG2J, SWILS	606976	16q22.1
Scalp-ear-nipple syndrome, 181270 (3)	KCTD1, SENS	613420	18q11.2
Scaphocephaly and Axenfeld-Rieger anomaly (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)	FGFR2, BEK, CFD1, JWS, TK14, BBDS	176943	10q26.13
Scapuloperoneal myopathy, X-linked dominant, 300695 (3)	FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B, FCMSU	300163	Xq26.3
Scapuloperoneal spinal muscular atrophy, 181405 (3)	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3	605427	12q24.11
Scapuloperoneal syndrome, myopathic type, 181430 (3)	MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD	160760	14q11.2
Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)	DES, CMD1I, MFM1, SCPNK	125660	2q35
Schaaf-Yang syndrome, 615547 (3)	MAGEL2, NDNL1, SHFYNG	605283	15q11.2
Schimke immunoosseous dysplasia, 242900 (3)	SMARCAL1, HARP, SIOD	606622	2q35
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)	HRAS	190020	11p15.5
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)	KRAS, KRAS2, RASK2, NS, CFC2, RALD, OES	190070	12p12.1
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)	NRAS, ALPS4, NS6, CMNS, NCMS	164790	1p13.2
Schindler disease, type I, 609241 (3)	NAGA	104170	22q13.2
Schindler disease, type III, 609241 (3)	NAGA	104170	22q13.2
Schinzel-Giedion midface retraction syndrome, 269150 (3)	SETBP1, KIAA0437, SEB, MRD29	611060	18q12.3
Schizencephaly, 269160 (3)	EMX2	600035	10q26.11
Schizencephaly, 269160 (3)	SHH, HPE3, HLP3, SMMCI, MCOPCB5	600725	7q36.3
Schizencephaly, 269160 (3)	SIX3, HPE2	603714	2p21
Schizophrenia 16 (4)	SCZD16, C16DUPq36.3, DUP7q36.3	613959	7q36.3
Schizophrenia, 181500 (2)	DISC2	606271	1q42.2
Schneckenbecken dysplasia, 269250 (3)	SLC35D1, UGTREL7, KIAA0260, SHNKND	610804	1p31.3
Schopf-Schulz-Passarge syndrome, 224750 (3)	WNT10A, SSPS, STHAG4, OODD	606268	2q35
Schuurs-Hoeijmakers syndrome, 615009 (3)	PACS1, SHMS, MRD17	607492	11q13.1-q13.2
Schwannomatosis, somatic, 162091 (3)	NF2	607379	22q12.2
Schwartz-Jampel syndrome, type 1, 255800 (3)	HSPG2, PLC, SJS, SJA, SJS1	142461	1p36.12
Sclerosing cholangitis, neonatal, 617394 (3)	DCDC2, RU2, KIAA1154, NPHP19, DFNB66, NSC	605755	6p22.3
Sclerosteosis 1, 269500 (3)	SOST, VBCH, CDD, SOST1	605740	17q21.31
Sclerosteosis 2, 614305 (3)	LRP4, MEGF7, CLSS, SOST2, CMS17	604270	11p11.2
Scoliosis, idiopathic 1 (2)	IS1, AIS	181800	19p13.3
Scoliosis, idiopathic 2 (2)	IS2, AIS2	607354	17p11.2
Scott syndrome, 262890 (3)	ANO6, TMEM16F, SCTS, BDPLT7	608663	12q12
Scurvy (3)	GULOP, GULO	240400	8p21.1
Sd(a) polyagglutination syndrome, 615018 (3)	B4GALGT2, GALGT2, SD, SDA	111730	17q21.32
Sea-blue histiocyte disease, 269600 (3)	APOE, AD2, LPG, LDLCQ5	107741	19q13.32
Sebaceous tumors, somatic (3)	LEF1	153245	4q25
Seckel syndrome 1, 210600 (3)	ATR, FRP1, SCKL1, FCTCS	601215	3q23
Seckel syndrome 10, 617253 (3)	NSMCE2, NSE2, MMS21	617246	8q24.13
Seckel syndrome 2, 606744 (3)	RBBP8, RIM, SCKL2, JWDS	604124	18q11.2
Seckel syndrome 5, 613823 (3)	CEP152, KIAA0912, MCPH9, SCKL5	613529	15q21.1
Seckel syndrome 9, 616777 (3)	TRAIP, TRIP, RNF206, SCKL9	605958	3p21.31
Segawa syndrome, recessive, 605407 (3)	TH, TYH	191290	11p15.5
Seizures, benign familial infantile, 1 (2)	BFIS1, BFIC1	601764	19q
Seizures, benign familial infantile, 2, 605751 (3)	PRRT2, PKC, DYT10, EKD1, BFIS2, BFIC2, ICCA	614386	16p11.2
Seizures, benign familial infantile, 3, 607745 (3)	SCN2A, SCN2A1, BFIC3, DEE11, BFIS3, BFNIS, EA9	182390	2q24.3
Seizures, benign familial infantile, 4 (2)	BFIS4, BFIC4	612627	1p36.12-p35.1
Seizures, benign familial infantile, 5, 617080 (3)	SCN8A, CIAT, DEE13, BFIS5, MYOCL2	600702	12q13.13
Seizures, benign neonatal, 1, 121200 (3)	KCNQ2, EBN1, DEE7, BFNS1	602235	20q13.33
Seizures, benign neonatal, 2, 121201 (3)	KCNQ3, EBN2, BFNC2	602232	8q24.22
Seizures, cortical blindness, microcephaly syndrome, 616632 (3)	DIAPH1, DFNA1, LFHL1, SCBMS	602121	5q31.3
Seizures, early-onset, with neurodegeneration and brain calcification, 618875 (3)	NRROS, LRRC33, SENEBAC	615322	3q29
Seizures, scoliosis, and macrocephaly syndrome, 616682 (3)	EXT2, SSMS	608210	11p11.2
Sengers syndrome, 212350 (3)	AGK, MULK, MTDPS10, CATC5, CTRCT38	610345	7q34
Senior-Loken syndrome 3 (2)	SLSN3	606995	3q22
Senior-Loken syndrome 4, 606996 (3)	NPHP4, SLSN4	607215	1p36.31
Senior-Loken syndrome 5, 609254 (3)	IQCB1, NPHP5, KIAA0036	609237	3q13.33
Senior-Loken syndrome 6, 610189 (3)	CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14	610142	12q21.32
Senior-Loken syndrome 7, 613615 (3)	SDCCAG8, CCCAP, SLSN7, BBS16	613524	1q43-q44
Senior-Loken syndrome 8, 616307 (3)	WDR19, SRTD5, ATD5, NPHP13, CED4, SPGF72	608151	4p14
Senior-Loken syndrome 9, 616629 (3)	TRAF3IP1, MIPT3, SLSN9	607380	2q37.3
Senior-Loken syndrome-1, 266900 (3)	NPHP1, NPH1, SLSN1, JBTS4	607100	2q13
Sensorineural deafness with mild renal dysfunction, 602522 (3)	BSND	606412	1p32.3
Septooptic dysplasia, 182230 (3)	HESX1, RPX, CPHD5	601802	3p14.3
Sessile serrated polyposis cancer syndrome, 617108 (3)	RNF43, RNF124, SSPCS	612482	17q22
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)	ADA	608958	20q13.12
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)	NHEJ1, XLF	611290	2q35
Severe combined immunodeficiency, Athabascan type, 602450 (3)	DCLRE1C, ARTEMIS, SCIDA	605988	10p13
Severe combined immunodeficiency, B cell-negative, 601457 (3)	RAG1	179615	11p12
Severe combined immunodeficiency, B cell-negative, 601457 (3)	RAG2	179616	11p12
Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3)	PTPRC, CD45, LCA	151460	1q31.3-q32.1
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)	IL7R, IL7RA, CD127	146661	5p13.2
Severe combined immunodeficiency, X-linked, 300400 (3)	IL2RG, SCIDX1, SCIDX, IMD4	308380	Xq13.1
Shaheen syndrome, 615328 (3)	COG6, COD2, KIAA1134, CDG2L, SHNS	606977	13q14.11
Shashi-Pena syndrome, 617190 (3)	ASXL2, KIAA1685, SHAPNS	612991	2p23.3
Short QT syndrome 1, 609620 (3)	KCNH2, LQT2, HERG, SQT1	152427	7q36.1
Short QT syndrome 2, 609621 (3)	KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2	607542	11p15.5-p15.4
Short QT syndrome 3, 609622 (3)	KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9	600681	17q24.3
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3)	ACAN, AGC1, CSPG1, MSK16, SEDK, SSOAOD	155760	15q26.1
Short stature with microcephaly and distinctive facies, 615789 (3)	CRIPT, SSMDF	604594	2p21
Short stature with nonspecific skeletal abnormalities, 616255 (3)	NPR2, ANPRB, AMD1, ECDM, SNSK	108961	9p13.3
Short stature, Dauber-Argente type, 619489 (3)	PAPPA2, PAPPE, SSDA	619485	1q25.2
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 (3)	SLC10A7, SSASKS	611459	4q31.22
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3)	GSC, SAMS	138890	14q32.13
Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3)	PRMT7, KIAA1933, SBIDDS	610087	16q22.1
Short stature, developmental delay, and congenital heart defects, 617044 (3)	TKT, SDDHD	606781	3p21.1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, 617877 (3)	BMP2, BMP2A, BDA2, SSFSC1	112261	20p12.3
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 619184 (3)	SCUBE3, SSFSC2	614708	6p21.31
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763 (3)	EXOSC2, RRP4, SHRF	602238	9q34.12
Short stature, idiopathic familial, 300582 (3)	SHOX, GCFX, SS, PHOG	312865	Xp22.33
Short stature, idiopathic familial, 300582 (3)	SHOXY	400020	Yp11.2
Short stature, microcephaly, and endocrine dysfunction, 616541 (3)	XRCC4, SSMED	194363	5q14.2
Short stature, oligodontia, dysmorphic facies, and motor delay, 619234 (3)	POLR3GL, SOFM	617457	1q21.1
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)	POC1A, PIX2, SOFT	614783	3p21.2
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)	NBAS, NAG, SOPH, ILFS2	608025	2p24.3
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3)	ARCN1, SRMMD	600820	11q23.3
Short-rib thoracic dysplasia 1 with or without polydactyly (2)	SRTD1, ATD1	208500	15q13
Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)	IFT172, SLB, KIAA1179, SRTD10, RP71, BBS20	607386	2p23.3
Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)	WDR34, SRTD11	613363	9q34.11
Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)	CEP120, CCDC100, SRTD13, JBTS31	613446	5q23.2
Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3)	KIAA0586, TALPID3, JBTS23, SRTD14	610178	14q23.1
Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3)	DYNC2LI1, D2LIC, LIC3, SRTD15	617083	2p21
Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)	IFT52	617094	20q13.12
Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 (3)	TCTEX1D2, SRTD17	617353	3q29
Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3)	IFT43, C14orf179, CED3, SRTD18, RP81	614068	14q24.3
Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (3)	IFT81, DV1, CDV1R, SRTD19	605489	12q24.11
Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)	IFT80, KIAA1374, WDR56, SRTD2, ATD2	611177	3q25.33
Short-rib thoracic dysplasia 21 without polydactyly, 619479 (3)	KIAA0753, OFIP, OFD15, JBTS38, SRTD21	617112	17p13.1
Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)	DYNC2H1, DNCH2, DHC2, ATD3, SRPS2B, SRTD3	603297	11q22.3
Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)	TTC21B, THM1, NPHP12, SRTD4, ATD4	612014	2q24.3
Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)	WDR19, SRTD5, ATD5, NPHP13, CED4, SPGF72	608151	4p14
Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)	NEK1, SRTD6, SRPS2A, ALS24	604588	4q33
Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)	WDR35, NAOFEN, KIAA1336, CED2, SRTD7	613602	2p24.1
Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)	WDR60, SRTD8, SRPS6	615462	7q36.3
Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)	IFT140, KIAA0590, SRTD9, MZSDS, RP80	614620	16p13.3
Shprintzen-Goldberg syndrome, 182212 (3)	SKI, SGS	164780	1p36.33-p36.32
Shukla-Vernon syndrome, 301029 (3)	BCORL1, SHUVER	300688	Xq26.1
Shwachman-Diamond syndrome 1, 260400 (3)	SBDS, SDS	607444	7q11.21
Shwachman-Diamond syndrome 2, 617941 (3)	EFL1, RIA1, EFTUD1, FAM42A, SDS2	617538	15q25.2
Sialic acid storage disorder, infantile, 269920 (3)	SLC17A5, SIASD, SLD	604322	6q13
Sialidosis, type I, 256550 (3)	NEU1, NEU, SIAL1	608272	6p21.33
Sialidosis, type II, 256550 (3)	NEU1, NEU, SIAL1	608272	6p21.33
Sialuria, 269921 (3)	GNE, GLCNE, IBM2, DMRV, NM	603824	9p13.3
Sick sinus syndrome 1, 608567 (3)	SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2	600163	3p22.2
Sick sinus syndrome 2, 163800 (3)	HCN4, SSS2, BRGDA8, EIG18	605206	15q24.1
Sickle cell anemia, 603903 (3)	HBB, ECYT6	141900	11p15.4
Siddiqi syndrome, 618635 (3)	FIT2, C20orf142, SIDDIS	612029	20q13.12
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)	TRNT1, SIFD, RPEM	612907	3p26.2
Sifrim-Hitz-Weiss syndrome, 617159 (3)	CHD4, SIHIWES	603277	12p13.31
Silver spastic paraplegia syndrome, 270685 (3)	BSCL2, SPG17, HMN5, PELD, HMN5C	606158	11q12.3
Silver-Russell syndrome 1, 180860 (3)	ICR1, BWS, WT2, SRS1	616186	11p15.5
Silver-Russell syndrome 2 (4)	SRS2	618905	7p13-q32
Silver-Russell syndrome 3, 616489 (3)	IGF2, GRDF, SRS3	147470	11p15.5
Silver-Russell syndrome 4, 618907 (3)	PLAG1, SGPA, PSA, SRS4	603026	8q12.1
Silver-Russell syndrome 5, 618908 (3)	HMGA2, HMGIC, BABL, SRS5	600698	12q14.3
Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)	GPC3, SDYS, SGBS1	300037	Xq26.2
Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)	OFD1, CXorf5, SGBS2, JBTS10, RP23	300170	Xp22.2
Single median maxillary central incisor, 147250 (3)	SHH, HPE3, HLP3, SMMCI, MCOPCB5	600725	7q36.3
Singleton-Merten syndrome 1, 182250 (3)	IFIH1, MDA5, AGS7, SGMRT1, IMD95	606951	2q24.2
Singleton-Merten syndrome 2, 616298 (3)	DDX58, RIGI, SGMRT2	609631	9p21.1
Sinoatrial node dysfunction and deafness, 614896 (3)	CACNA1D, CACNL1A2, CCHL1A2, SANDD, PASNA	114206	3p21.1
Sitosterolemia 1, 210250 (3)	ABCG8, GBD4, STSL1	605460	2p21
Sitosterolemia 2, 618666 (3)	ABCG5, STSL2	605459	2p21
Sjogren-Larsson syndrome, 270200 (3)	ALDH3A2, ALDH10, SLS, FALDH	609523	17p11.2
Skeletal dysplasia, mild, with joint laxity and advanced bone age, 618870 (3)	CSGALNACT1, SDJLABA	616615	8p21.3
Skin fragility-woolly hair syndrome, 607655 (3)	DSP, KPPS2, PPKS2, DCWHKTA	125647	6p24.3
Skraban-Deardorff syndrome, 617616 (3)	WDR26, SKDEAS	617424	1q42.11-q42.12
Small cell cancer of the lung, somatic, 182280 (3)	RB1	614041	13q14.2
Small fiber neuropathy, 133020 (3)	SCN9A, NENA, PN1, SFNP, HSAN2D	603415	2q24.3
Small-cell cancer of lung (2)	SCLC1	182280	3p23-p21
Smith-Kingsmore syndrome, 616638 (3)	MTOR, FRAP1, SKS	601231	1p36.22
Smith-Lemli-Opitz syndrome, 270400 (3)	DHCR7, SLOS	602858	11q13.4
Smith-Magenis syndrome, 182290 (3)	RAI1, SMCR, SMS	607642	17p11.2
Smith-McCort dysplasia 2, 615222 (3)	RAB33B, SMC2	605950	4q31.1
Smith-McCort dysplasia, 607326 (3)	DYM, FLJ90130, DMC, SMC	607461	18q21.1
Sneddon syndrome, 182410 (3)	ADA2, CECR1, VAIHS, SNEDS	607575	22q11.1
Snijders Blok-Campeau syndrome, 618205 (3)	CHD3, SNIBCPS	602120	17p13.1
Snijders Blok-Fisher syndrome, 618604 (3)	POU3F3, SNIBFIS	602480	2q12.1
Snowflake vitreoretinal degeneration, 193230 (3)	KCNJ13, SVD, LCA16	603208	2q37.1
Sorbitol dehydrogenase deficiency with peripheral neuropathy, 618912 (3)	SORD, SORD1, SORDD	182500	15q21.1
Sorsby fundus dystrophy, 136900 (3)	TIMP3, SFD	188826	22q12.3
Sotos syndrome, 117550 (3)	NSD1, ARA267, STO, SOTOS	606681	5q35.3
Spastic ataxia 1, autosomal dominant, 108600 (3)	VAMP1, SYB1, SPAX1, CMS25	185880	12p13.31
Spastic ataxia 2, autosomal recessive, 611302 (3)	KIF1C, LTXS1, KIAA0706, SPAX2	603060	17p13.2
Spastic ataxia 3, autosomal recessive, 611390 (3)	MARS2, SPAX3, COXPD25	609728	2q33.1
Spastic ataxia 5, autosomal recessive, 614487 (3)	AFG3L2, SCA28, SPAX5, OPA12	604581	18p11.21
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)	NKX6-2, NKX6B, NKX6.2, SPAX8	605955	10q26.3
Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)	SACS, ARSACS	604490	13q12.12
Spastic paralysis, infantile onset ascending, 607225 (3)	ALS2, ALSJ, PLSJ, IAHSP	606352	2q33.1
Spastic paraplegia 10, autosomal dominant, 604187 (3)	KIF5A, NKHC, SPG10, NEIMY, ALS25	602821	12q13.3
Spastic paraplegia 11, autosomal recessive, 604360 (3)	SPG11, KIAA1840, FLJ21439, ALS5, CMT2X	610844	15q21.1
Spastic paraplegia 12, autosomal dominant, 604805 (3)	RTN2, NSPL1, SPG12	603183	19q13.32
Spastic paraplegia 13, autosomal dominant, 605280 (3)	HSPD1, SPG13, HSP60, HLD4	118190	2q33.1
Spastic paraplegia 14, autosomal recessive (2)	SPG14	605229	3q27-q28
Spastic paraplegia 15, autosomal recessive, 270700 (3)	ZFYVE26, KIAA0321, SPG15	612012	14q24.1
Spastic paraplegia 16, X-linked, complicated (2)	SPG16	300266	Xq11.2
Spastic paraplegia 18, autosomal recessive, 611225 (3)	ERLIN2, SPFH2, C8orf2, SPG18	611605	8p11.23
Spastic paraplegia 19, autosomal dominant (2)	SPG19	607152	9q
Spastic paraplegia 2, X-linked, 312920 (3)	PLP1, PMD, HLD1, SPG2	300401	Xq22.2
Spastic paraplegia 23, 270750 (3)	DSTYK, KIAA0472, RIP5, DUSTYPK, CAKUT1, SPG23	612666	1q32.1
Spastic paraplegia 24, autosomal recessive (2)	SPG24	607584	13q14
Spastic paraplegia 25, autosomal recessive (2)	SPG25	608220	6q23-q24.1
Spastic paraplegia 26, autosomal recessive, 609195 (3)	B4GALNT1, GALGT, GALNACT, SPG26	601873	12q13.3
Spastic paraplegia 27, autosomal recessive (2)	SPG27	609041	10q22.1-q24.1
Spastic paraplegia 28, autosomal recessive, 609340 (3)	DDHD1, PAPLA1, KIAA1705, SPG28	614603	14q22.1
Spastic paraplegia 29, autosomal dominant (2)	SPG29	609727	1p31.1-p21.1
Spastic paraplegia 30, autosomal dominant, 610357 (3)	KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9	601255	2q37.3
Spastic paraplegia 30, autosomal recessive, 610357 (3)	KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9	601255	2q37.3
Spastic paraplegia 31, autosomal dominant, 610250 (3)	REEP1, C2orf23, SPG31, HMN5B	609139	2p11.2
Spastic paraplegia 32, autosomal recessive (2)	SPG32	611252	14q12-q21
Spastic paraplegia 33, autosomal dominant, 610244 (3)	ZFYVE27, SPG33	610243	10q24.2
Spastic paraplegia 34, X-linked (2)	SPG34	300750	Xq24-q25
Spastic paraplegia 35, autosomal recessive, 612319 (3)	FA2H, FAAH, FAXDC1, FAH1, SCS7, SPG35	611026	16q23.1
Spastic paraplegia 36, autosomal dominant (2)	SPG36	613096	12q23-q24
Spastic paraplegia 37, autosomal dominant (2)	SPG37	611945	8p21.1-q13.3
Spastic paraplegia 38, autosomal dominant (2)	SPG38	612335	4p16-p15
Spastic paraplegia 39, autosomal recessive, 612020 (3)	PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS	603197	19p13.2
Spastic paraplegia 3A, autosomal dominant, 182600 (3)	ATL1, SPG3A, HSN1D	606439	14q22.1
Spastic paraplegia 4, autosomal dominant, 182601 (3)	SPAST, SPG4	604277	2p22.3
Spastic paraplegia 42, autosomal dominant, 612539 (3)	SLC33A1, ACATN, AT1, SPG42, CCHLND	603690	3q25.31
Spastic paraplegia 45, autosomal recessive, 613162 (3)	NT5C2, NT5B, PNT5, SPG45	600417	10q24.32-q24.33
Spastic paraplegia 46, autosomal recessive, 614409 (3)	GBA2, KIAA1605, SPG46	609471	9p13.3
Spastic paraplegia 47, autosomal recessive, 614066 (3)	AP4B1, SPG47, CPSQ5	607245	1p13.2
Spastic paraplegia 48, autosomal recessive, 613647 (3)	AP5Z1, KIAA0415, SPG48	613653	7p22.1
Spastic paraplegia 50, autosomal recessive, 612936 (3)	AP4M1, SPG50, CPSQ3	602296	7q22.1
Spastic paraplegia 51, autosomal recessive, 613744 (3)	AP4E1, SPG51, CPSQ4, STUT1	607244	15q21.2
Spastic paraplegia 52, autosomal recessive, 614067 (3)	AP4S1, CPSQ6, SPG52	607243	14q12
Spastic paraplegia 53, autosomal recessive, 614898 (3)	VPS37A, HCRP1, SPG53	609927	8p22
Spastic paraplegia 54, autosomal recessive, 615033 (3)	DDHD2, KIAA0725, SPG54	615003	8p11.23
Spastic paraplegia 55, autosomal recessive, 615035 (3)	MTRFR, C12orf65, COXPD7, SPG55	613541	12q24.31
Spastic paraplegia 56, autosomal recessive, 615030 (3)	CYP2U1, SPG56	610670	4q25
Spastic paraplegia 5A, autosomal recessive, 270800 (3)	CYP7B1, CBAS3, SPG5A	603711	8q12.3
Spastic paraplegia 6, autosomal dominant, 600363 (3)	NIPA1, SPG6	608145	15q11.2
Spastic paraplegia 62, 615681 (3)	ERLIN1, SPG62	611604	10q24.31
Spastic paraplegia 64, autosomal recessive, 615683 (3)	ENTPD1, CD39, SPG64	601752	10q24.1
Spastic paraplegia 7, autosomal recessive, 607259 (3)	PGN, SPG7, CMAR, CAR	602783	16q24.3
Spastic paraplegia 75, autosomal recessive, 616680 (3)	MAG, GMA, SPG75	159460	19q13.12
Spastic paraplegia 76, autosomal recessive, 616907 (3)	CAPN1, SPG76	114220	11q13.1
Spastic paraplegia 77, autosomal recessive, 617046 (3)	FARS2, FARS1, COXPD14, SPG77	611592	6p25.1
Spastic paraplegia 78, autosomal recessive, 617225 (3)	ATP13A2, PARK9, KRPPD, SPG78	610513	1p36.13
Spastic paraplegia 79, autosomal recessive, 615491 (3)	UCHL1, PARK5, SPG79, NDGOA	191342	4p13
Spastic paraplegia 8, autosomal dominant, 603563 (3)	WASHC5, KIAA0196, SPG8, RTSC1	610657	8q24.13
Spastic paraplegia 80, autosomal dominant, 618418 (3)	UBAP1, UBAP, SPG80	609787	9p13.3
Spastic paraplegia 81, autosomal recessive, 618768 (3)	SELENOI, SELI, SPG81	607915	2p23.3
Spastic paraplegia 82, autosomal recessive, 618770 (3)	PCYT2, ET, SPG82	602679	17q25.3
Spastic paraplegia 83, autosomal recessive, 619027 (3)	HPDL, NEDSWMA, SPG83	618994	1p34.1
Spastic paraplegia 84, autosomal recessive, 619621 (3)	PI4KA, PIK4CA, PMGYCHA, SPG84, GIDID2	600286	22q11.21
Spastic paraplegia 85, autosomal recessive, 619686 (3)	RNF170, SNAX1, SPG85	614649	8p11.21
Spastic paraplegia 86, autosomal recessive, 619735 (3)	ABHD16A, BAT5, D6S82E, SPG86	142620	6p21.33
Spastic paraplegia 9A, autosomal dominant, 601162 (3)	ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3	138250	10q24.1
Spastic paraplegia 9B, autosomal recessive, 616586 (3)	ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3	138250	10q24.1
Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3)	HACE1, KIAA1320, SPPRS	610876	6q16.3
Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3)	KIDINS220, ARMS, SINO, VENARG	615759	2p25.1
Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3)	KLC2, SPOAN	611729	11q13.2
Spastic tetraplegia and axial hypotonia, progressive, 618598 (3)	SOD1, ALS1, STAHP	147450	21q22.11
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)	SLC1A4, SATT, ASCT1, SPATCCM	600229	2p14
Spasticity, childhood-onset, with hyperglycinemia, 616859 (3)	GLRX5, C14orf87, PRO1238, FLB4739, PRSA, SIDBA3, SPAHGC	609588	14q32.13
Specific granule deficiency 2, 617475 (3)	SMARCD2, BAF60B, SGD2	601736	17q23.3
Specific granule deficiency, 245480 (3)	CEBPE, CRP1	600749	14q11.2
Specific language impairment QTL, 1 (2)	SLI1	606711	16q
Specific language impairment QTL, 2 (2)	SLI2	606712	19q
Specific language impairment QTL, 3 (2)	SLI3	607134	13q21
Speech-language disorder-1, 602081 (3)	FOXP2, SPCH1, TNRC10, CAGH44	605317	7q31.1
Spermatocytic seminoma, somatic, 273300 (3)	FGFR3, ACH	134934	4p16.3
Spermatogenic failure 1, 258150 (3)	SYCP2, SCP2, SPGF1	604105	20q13.33
Spermatogenic failure 10, 614822 (3)	SEPT12, SPGF10	611562	16p13.3
Spermatogenic failure 11, 615081 (3)	KLHL10, SPGF11	608778	17q21.2
Spermatogenic failure 12, 615413 (3)	NANOS1, NOS1, SPGF12	608226	10q26.11
Spermatogenic failure 16, 617187 (3)	SUN5, TSARG4, SPAG4L, SPGF16	613942	20q11.21
Spermatogenic failure 17, 617214 (3)	PLCZ1, SPGF17	608075	12p12.3
Spermatogenic failure 18, 617576 (3)	DNAH1, HL11, DNAHC1, HDHC7, SPGF18, CILD37	603332	3p21.1
Spermatogenic failure 19, 617592 (3)	CFAP43, WDR96, C10orf79, SPGF19, HYDNP1	617558	10q25.1
Spermatogenic failure 2 (2)	SPGF2, ASG	108420	Chr.1
Spermatogenic failure 23, 617707 (3)	TEX14, SPGF23	605792	17q22
Spermatogenic failure 24, 617959 (3)	CFAP69, C7orf63, SPGF24	617949	7q21.13
Spermatogenic failure 25, 617960 (3)	TEX15, SPGF25	605795	8p12
Spermatogenic failure 28, 618086 (3)	FANCM, KIAA1596, SPGF28, POF15	609644	14q21.2
Spermatogenic failure 3, 606766 (3)	SLC26A8, TAT1, SPGF3	608480	6p21.31
Spermatogenic failure 31, 618112 (3)	PMFBP1, STAP, SPGF31	618085	16q22.2
Spermatogenic failure 32, 618115 (3)	SOHLH1, NOHLH, TEB2, ODG5, SPGF32	610224	9q34.3
Spermatogenic failure 33, 618152 (3)	WDR66, CFAP251, SPGF33	618146	12q24.31
Spermatogenic failure 34, 618153 (3)	FSIP2, SPGF34	615796	2q32.1
Spermatogenic failure 35, 618341 (3)	QRICH2, SPGF35	618304	17q25.1
Spermatogenic failure 36, 618420 (3)	PPP2R3C, G5PR, GDRM, SPGF36	615902	14q13.2
Spermatogenic failure 37, 618429 (3)	TTC21A, STI2, SPGF37	611430	3p22.2
Spermatogenic failure 38, 618433 (3)	ARMC2, SPGF38	618424	6q21
Spermatogenic failure 39, 618643 (3)	DNAH17, DNEL2, SPGF39	610063	17q25.3
Spermatogenic failure 4, 270960 (3)	SYCP3, SCP3, COR1, SPGF4, RPRGL4	604759	12q23.2
Spermatogenic failure 40, 618664 (3)	CFAP65, CCDC108, SPGF40	614270	2q35
Spermatogenic failure 42, 618745 (3)	TTC29, SPGF42	618735	4q31.22
Spermatogenic failure 43, 618751 (3)	SPEF2, KPL2, KIAA1770, SPGF43	610172	5p13.2
Spermatogenic failure 44, 619044 (3)	CEP112, CCDC46, MACOCO, SPGF44	618980	17q24.1
Spermatogenic failure 45, 619094 (3)	DNAH2, DNAHC2, SPGF45	603333	17p13.1
Spermatogenic failure 46, 619095 (3)	DNAH8, HDHC9, SPGF46	603337	6p21.2
Spermatogenic failure 47, 619102 (3)	DZIP1, KIAA0996, SPGF47, MVP3	608671	13q32.1
Spermatogenic failure 48, 619108 (3)	M1AP, SPATA37, C2orf65, SPGF48	619098	2p13.1
Spermatogenic failure 49, 619144 (3)	CFAP58, SPGF49	619129	10q25.1
Spermatogenic failure 5, 243060 (3)	AURKC, STK13, AIE2, SPGF5	603495	19q13.43
Spermatogenic failure 50, 619145 (3)	XRCC2, FANCU, SPGF50, POF17	600375	7q36.1
Spermatogenic failure 51, 619177 (3)	CFAP91, MAATS1, AAT1, C3orf15, SPGF51	609910	3q13.33
Spermatogenic failure 52, 619202 (3)	C14orf39, SIX6OS1, SPGF52, POF18	617307	14q23.1
Spermatogenic failure 53, 619258 (3)	ACTL9, SPGF53	619251	19p13.2
Spermatogenic failure 56, 619515 (3)	DNAH10, SPGF56	605884	12q24.31
Spermatogenic failure 57, 619528 (3)	PNLDC1, TRIMMER, SPGF57	619529	6q25.3
Spermatogenic failure 58, 619585 (3)	IFT74, CCDC2, CMG1, BBS22, JBTS40, SPGF58	608040	9p21.2
Spermatogenic failure 60, 619646 (3)	TERB1, CCDC79, SPGF60	617332	16q22.1
Spermatogenic failure 61, 619672 (3)	STAG3, POF8, SPGF61	608489	7q22.1
Spermatogenic failure 64, 619696 (3)	FBXO43, EMI2, ERP1, FBX43, SPGF64, OOMD12	609110	8q22.2
Spermatogenic failure 65, 619712 (3)	DHND1, FLJ00251, SPGF65	617277	11p15.4
Spermatogenic failure 69, 619826 (3)	GGN	609966	19q13.2
Spermatogenic failure 7, 612997 (3)	CATSPER1, CATSPER, SPGF7	606389	11q13.1
Spermatogenic failure 70, 619828 (3)	PDHA2, SPGF70	179061	4q22.3
Spermatogenic failure 71, 619831 (3)	ZSWIM7, SWS1, SPGF71, ODG10	614535	17p12
Spermatogenic failure 8, 613957 (3)	NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8, SRXX4	184757	9q33.3
Spermatogenic failure 9, 613958 (3)	DPY19L2, SPGF9	613893	12q14.2
Spermatogenic failure, X-linked 2, 309120 (3)	TEX11, SPGFX2	300311	Xq13.1
Spermatogenic failure, X-linked 3, 301059 (3)	CFAP47, CXorf22, SPGFX3	301057	Xp21.1
Spermatogenic failure, X-linked, 4, 301077 (3)	GCNA, ACRC, SPGFX4	300369	Xq13.1
Spermatogenic failure, Y-linked, 1 (4)	DELYq11, CYDELq11, SPGFY1	400042	Yq11
Spermatogenic failure, Y-linked, 2, 415000 (3)	USP9Y, DFFRY, SPGFY2	400005	Yq11.221
Spherocytosis, type 1, 182900 (3)	ANK1, SPH1	612641	8p11.21
Spherocytosis, type 2, 616649 (3)	SPTB, SPH2, EL3, HS2	182870	14q23.3
Spherocytosis, type 3, 270970 (3)	SPTA1, EL2, SPH3, HS3, HPP	182860	1q23.1
Spherocytosis, type 4, 612653 (3)	SLC4A1, AE1, EPB3, SPH4, SAO, CHC	109270	17q21.31
Spherocytosis, type 5, 612690 (3)	EPB42, SPH5	177070	15q15.2
Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)	AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1	313700	Xq12
Spinal muscular atrophy with congenital bone fractures 1, 616866 (3)	TRIP4, ASC1, SMABF1, MDCDC	604501	15q22.31
Spinal muscular atrophy with congenital bone fractures 2, 616867 (3)	ASCC1, p50, SMABF2	614215	10q22.1
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)	ASAH1, AC, SMAPME	613468	8p22
Spinal muscular atrophy, Jokela type, 615048 (3)	CHCHD10, FTDALS2, SMAJ, IMMD	615903	22q11.23
Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)	UBA1, UBE1, GXP1, A1ST, SMAX2, AMCX1, VEXAS	314370	Xp11.3
Spinal muscular atrophy, chronic distal, autosomal recessive (2)	SMAR	607088	11q13
Spinal muscular atrophy, distal, X-linked 3, 300489 (3)	ATP7A, MNK, MK, OHS, SMAX3	300011	Xq21.1
Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)	PLEKHG5, KIAA0720, DSMA4, CMTRIC	611101	1p36.31
Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3)	DNAJB2, HSJ1, HSPF3, DSMA5	604139	2q35
Spinal muscular atrophy, infantile, James type, 619042 (3)	GARS1, GARS, SMAD1, CMT2D, HMN5A, SMAJI	600287	7p14.3
Spinal muscular atrophy, late-onset, Finkel type, 182980 (3)	VAPBC, VAPB, VAPC, ALS8	605704	20q13.32
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)	DYNC1H1, DNCL, DNECL, CMT2O, MRD13, SMALED1	600112	14q32.31
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290 (3)	BICD2, KIAA0699, SMALED2A, SMALED2B	609797	9q22.31
Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 (3)	BICD2, KIAA0699, SMALED2A, SMALED2B	609797	9q22.31
Spinal muscular atrophy-1, 253300 (3)	SMN1, SMA1, SMA2, SMA3, SMA4	600354	5q13.2
Spinal muscular atrophy-2, 253550 (3)	SMN1, SMA1, SMA2, SMA3, SMA4	600354	5q13.2
Spinal muscular atrophy-3, 253400 (3)	SMN1, SMA1, SMA2, SMA3, SMA4	600354	5q13.2
Spinal muscular atrophy-4, 271150 (3)	SMN1, SMA1, SMA2, SMA3, SMA4	600354	5q13.2
Spinocerebellar ataxia 1, 164400 (3)	ATXN1, ATX1, SCA1	601556	6p22.3
Spinocerebellar ataxia 10, 603516 (3)	ATXN10, SCA10	611150	22q13.31
Spinocerebellar ataxia 11, 604432 (3)	TTBK2, SCA11	611695	15q15.2
Spinocerebellar ataxia 12, 604326 (3)	PPP2R2B	604325	5q32
Spinocerebellar ataxia 13, 605259 (3)	KCNC3, SCA13	176264	19q13.33
Spinocerebellar ataxia 14, 605361 (3)	PRKCG, PKCC, PKCG, SCA14	176980	19q13.42
Spinocerebellar ataxia 15, 606658 (3)	ITPR1, SCA15, SCA16, SCA29	147265	3p26.1
Spinocerebellar ataxia 17, 607136 (3)	TBP, SCA17, HDL4	600075	6q27
Spinocerebellar ataxia 18 (2)	SCA18, SMNA	607458	7q22-q32
Spinocerebellar ataxia 19, 607346 (3)	KCND3, KCND3S, KCND3L, SCA19, SCA22, BRGDA9	605411	1p13.2
Spinocerebellar ataxia 2, 183090 (3)	ATXN2, ATX2, SCA2, ASL13	601517	12q24.12
Spinocerebellar ataxia 20 (4)	SCA20, DUP11q12, C11DUPq12	608687	11q12
Spinocerebellar ataxia 21, 607454 (3)	TMEM240, C1orf70, SCA21	616101	1p36.33
Spinocerebellar ataxia 23, 610245 (3)	PDYN, SCA23	131340	20p13
Spinocerebellar ataxia 25 (2)	SCA25	608703	2p21-p13
Spinocerebellar ataxia 27, 609307 (3)	FGF14, FHF4, SCA27	601515	13q33.1
Spinocerebellar ataxia 28, 610246 (3)	AFG3L2, SCA28, SPAX5, OPA12	604581	18p11.21
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)	ITPR1, SCA15, SCA16, SCA29	147265	3p26.1
Spinocerebellar ataxia 31, 117210 (3)	BEAN, SCA31	612051	16q21
Spinocerebellar ataxia 32 (2)	SCA32	613909	7q32-q33
Spinocerebellar ataxia 34, 133190 (3)	ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34	605512	6q14.1
Spinocerebellar ataxia 35, 613908 (3)	TGM6, TG6, TGY, SCA35	613900	20p13
Spinocerebellar ataxia 36, 614153 (3)	NOP56, SCA36	614154	20p13
Spinocerebellar ataxia 37, 615945 (3)	DAB1, SCA37	603448	1p32.2-p32.1
Spinocerebellar ataxia 38, 615957 (3)	ELOVL5, HELO1, SCA38	611805	6p12.1
Spinocerebellar ataxia 4 (2)	SCA4	600223	16q22.1
Spinocerebellar ataxia 42, 616795 (3)	CACNA1G, SCA42, SCA42ND	604065	17q21.33
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)	CACNA1G, SCA42, SCA42ND	604065	17q21.33
Spinocerebellar ataxia 44, 617691 (3)	GRM1, MGLUR1, GRM1A, SCAR13, SCA44	604473	6q24.3
Spinocerebellar ataxia 45, 617769 (3)	FAT2, MEGF1, SCA45	604269	5q33.1
Spinocerebellar ataxia 47, 617931 (3)	PUM1, KIAA0099, SCA47	607204	1p35.2
Spinocerebellar ataxia 48, 618093 (3)	STUB1, CHIP, SCAR16, SCA48	607207	16p13.3
Spinocerebellar ataxia 49, 619806 (3)	SAMD9L, ATXPC, M7MLS1, SCA49	611170	7q21.2
Spinocerebellar ataxia 5, 600224 (3)	SPTBN2, SCA5, SCAR14	604985	11q13.2
Spinocerebellar ataxia 6, 183086 (3)	CACNA1A, CACNL1A4, SCA6, DEE42	601011	19p13.13
Spinocerebellar ataxia 7, 164500 (3)	ATXN7, SCA7, OPCA3	607640	3p14.1
Spinocerebellar ataxia 8, 608768 (3)	ATXN8	613289	13q21
Spinocerebellar ataxia 8, 608768 (3)	ATXN8OS, SCA8, KLHL1AS	603680	13q21.33
Spinocerebellar ataxia, X-linked 5 (2)	SCAX5	300703	Xq25-q27.1
Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)	ANO10, TMEM16K, SCAR10	613726	3p22.1-p21.33
Spinocerebellar ataxia, autosomal recessive 12, 614322 (3)	WWOX, FOR, SCAR12, DEE28	605131	16q23.1-q23.2
Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)	GRM1, MGLUR1, GRM1A, SCAR13, SCA44	604473	6q24.3
Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)	SPTBN2, SCA5, SCAR14	604985	11q13.2
Spinocerebellar ataxia, autosomal recessive 15, 615705 (3)	RUBCN, RUBICON, KIAA0226, SCAR15	613516	3q29
Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)	STUB1, CHIP, SCAR16, SCA48	607207	16p13.3
Spinocerebellar ataxia, autosomal recessive 17, 616127 (3)	CWF19L1, C19L1, SCAR17	616120	10q24.31
Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)	GRID2, SCAR18	602368	4q22.1-q22.2
Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)	PMPCA, KIAA0123, SCAR2	613036	9q34.3
Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)	SNX14, SCAR20	616105	6q14.3
Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)	SCYL1, NTKL, SCAR21	607982	11q13.1
Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)	TDP2, TTRAP	605764	6p22.3
Spinocerebellar ataxia, autosomal recessive 27, 618369 (3)	GDAP2, SCAR27	618128	1p12
Spinocerebellar ataxia, autosomal recessive 28, 618800 (3)	THG1L, THG1, ICF45, IHG1, SCAR28	618802	5q33.3
Spinocerebellar ataxia, autosomal recessive 29, 619389 (3)	VPS41, SCAR29	605485	7p14.1
Spinocerebellar ataxia, autosomal recessive 3 (2)	SCAR3, SCABD	271250	6p23-p21
Spinocerebellar ataxia, autosomal recessive 30, 619405 (3)	PITRM1, MP1, PREP, SCAR30	618211	10p15.2
Spinocerebellar ataxia, autosomal recessive 31, 619422 (3)	ATG7, APG7L, GSA7, SCAR31	608760	3p25.3
Spinocerebellar ataxia, autosomal recessive 32, 619862 (3)	PRDX3, AOP1, SCAR32, PPPCD	604769	10q26.11
Spinocerebellar ataxia, autosomal recessive 4, 607317 (3)	VPS13D, SCAR4	608877	1p36.22-p36.21
Spinocerebellar ataxia, autosomal recessive 6 (2)	SCAR6, CLA3	608029	20q11-q13
Spinocerebellar ataxia, autosomal recessive 7, 609270 (3)	TPP1, CLN2, SCAR7	607998	11p15.4
Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)	SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4, AMC3	608441	6q25.2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002 (3)	SETX, SCAN2, AOA2, ALS4	608465	9q34.13
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 (3)	COA7, RESA1, SELRC1, C1orf163, SCAN3	615623	1p32.3
Spitz nevus or nevus spilus, somatic, 137550 (3)	HRAS	190020	11p15.5
Split hand/foot malformation 2 (2)	SHFM2, SHFD2	313350	Xq26
Split-foot malformation with mesoaxial polydactyly, 616890 (3)	ZAK, MLTK, MRK, SFMMP, CNM6	609479	2q31.1
Split-hand/foot malformation 1, 183600 (3)	DLX5, SHFM1D, SHFM1	600028	7q21.3
Split-hand/foot malformation 3, gene duplication syndrome (4)	SHFM3, SHSF3, DUP10q24, C10DUPq24	246560	10q24
Split-hand/foot malformation 4, 605289 (3)	TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8	603273	3q28
Split-hand/foot malformation 5 (2)	SHFM5	606708	2q31
Split-hand/foot malformation 6, 225300 (3)	WNT10B, SHFM6, STHAG8	601906	12q13.12
Split-hand/foot malformation with long bone deficiency 1 (2)	SHFL1, SHFLD	119100	1q42.2-q43
Split-hand/foot malformation with long bone deficiency 2 (2)	SHFLD2	610685	6q14.1
Split-hand/foot malformation with long bone deficiency 3 (4)	SHFLD3, DUP17p13.3, C17DUPp13.3	612576	17p13.3-p13.1
Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)	NKX3-2, BAPX1, SMMD	602183	4p15.33
Spondylocarpotarsal synostosis syndrome, 272460 (3)	FLNB, SCT, AOI, LRS1	603381	3p14.3
Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)	DLL3, SCDO1	602768	19q13.2
Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)	MESP2, SCDO2	605195	15q26.1
Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)	LFNG, SCDO3	602576	7p22.3
Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)	HES7, SCDO4	608059	17p13.1
Spondylocostal dysostosis 5, 122600 (3)	TBX6, SCDO5	602427	16p11.2
Spondyloenchondrodysplasia with immune dysregulation, 607944 (3)	ACP5, SPENCDI	171640	19p13.2
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)	B3GALT6, SEMDJL1, EDSSPD2, ALGAZ	615291	1p36.33
Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)	KIF22, KNSL4, KID, OBP, SEMDJL2	603213	16p11.2
Spondyloepimetaphyseal dysplasia with joint laxity, type 3, 618395 (3)	EXOC6B, SEC15B, KIAA0919, SEMDJL3	607880	2p13.2
Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, 608728 (3)	MATN3, EDM5, HOA, OS2, SEMDBCD	602109	2p24.1
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3)	NANS, SAS, SEMDCG	605202	9q22.33
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616723 (3)	RSPRY1, KIAA1972, SEMDFA	616585	16q13
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, 618728 (3)	RPL13, BBC1, D16S44E, SEMDIST	113703	16q24.3
Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3)	DDRGK1, UFBP1, C20orf116, SEMDSH	616177	20p13
Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)	BGN, SEMDX, MRLS	301870	Xq28
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 (3)	AIFM1, PDCD8, AIF, COXPD6, COWCK, CMTX4, DFNX5, SEMDHL	300169	Xq26.1
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)	ACAN, AGC1, CSPG1, MSK16, SEDK, SSOAOD	155760	15q26.1
Spondyloepimetaphyseal dysplasia, sponastrime type, 271510 (3)	TONSL, NFKBIL2, IKBR, SEMDSP	604546	8q24.3
Spondyloepiphyseal dysplasia tarda, 313400 (3)	TRAPPC2, SEDL, SEDT	300202	Xp22.2
Spondyloepiphyseal dysplasia tarda, autosomal dominant (2)	SPDT	184100	12q13
Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)	CHST3, C6ST, C6ST1, HSD	603799	10q22.1
Spondyloepiphyseal dysplasia, Nishimura type, 618618 (3)	MIR140, MIRN140, SEDN	611894	16q22.1
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)	COL2A1	120140	12q13.11
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis, 619260 (3)	NMNAT1, NMNAT, PNAT1, LCA9, SHILCA	608700	1p36.22
Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)	DDR2, NTRKR3, TKT, WRCN	191311	1q23.3
Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)	PCYT1A, CTPCT, PCYT1, SMDCRD	123695	3q29
Spondylometaphyseal dysplasia with corneal dystrophy, 618961 (3)	PLCB3, SMDCD	600230	11q13.1
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3	605427	12q24.11
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3)	PAM16, MAGMAS, SMDMDM	614336	16p13.3
Spondylometaphyseal dysplasia, Pagnamenta type, 619638 (3)	PRKG2, PRKGR2, AMD4, SMDP	601591	4q21.21
Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)	GPX4, SMDS	138322	19p13.3
Spondylometaphyseal dysplasia, axial, 602271 (3)	CFAP410, C21orf2, SMDAX, RDMS	603191	21q22.3
Spondylometaphyseal dysplasia, corner fracture type, 184255 (3)	FN1, FN, LETS, FNZ, GFND2, SMDCF	135600	2q35
Spondyloocular syndrome, 605822 (3)	XYLT2, XT2, SOS	608125	17q21.33
Spondyloperipheral dysplasia, 271700 (3)	COL2A1	120140	12q13.11
Spongiform encephalopathy with neuropsychiatric features, 606688 (3)	PRNP, PRIP, KURU, CJD	176640	20p13
Squalene synthase deficiency, 618156 (3)	FDFT1, DGPT, SQSD	184420	8p23.1
Squamous cell carcinoma, burn scar-related, somatic (3)	FAS, TNFRSF6, APT1, CD95, ALPS1A	134637	10q23.31
Squamous cell carcinoma, head and neck, 275355 (3)	TNFRSF10B, DR5, TRAILR2	603612	8p21.3
Squamous cell carcinoma, head and neck, somatic, 275355 (3)	ING1	601566	13q34
Stankiewicz-Isidor syndrome, 617516 (3)	PSMD12, P55, STISS	604450	17q24.2
Stapes ankylosis with broad thumbs and toes, 184460 (3)	NOG, SYM1, SYNS1A	602991	17q22
Stargardt disease 1, 248200 (3)	ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2	601691	1p22.1
Stargardt disease 3, 600110 (3)	ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34	605512	6q14.1
Stargardt disease 4, 603786 (3)	PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4	604365	4p15.32
Steatocystoma multiplex, 184500 (3)	KRT17, PC2, PCHC1	148069	17q21.2
Steel syndrome, 615155 (3)	COL27A1, KIAA1870, STLS	608461	9q32
Stickler syndrome, type I, 108300 (3)	COL2A1	120140	12q13.11
Stickler syndrome, type I, nonsyndromic ocular, 609508 (3)	COL2A1	120140	12q13.11
Stickler syndrome, type II, 604841 (3)	COL11A1, STL2, DFNA37	120280	1p21.1
Stickler syndrome, type IV, 614134 (3)	COL9A1, EDM6, STL4	120210	6q13
Stiff skin syndrome, 184900 (3)	FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS	134797	15q21.1
Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3)	SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN	138140	1p34.2
Stormorken syndrome, 185070 (3)	STIM1, TAM1, IMD10, STRMK	605921	11p15.4
Striatal degeneration, autosomal dominant, 609161 (3)	PDE8B, PPNAD3, ADSD	603390	5q13.3
Striatal degeneration, autosomal dominant, 616922 (3)	PDE10A, IOLOD, ADSD2	610652	6q27
Striatonigral degeneration, childhood-onset, 617054 (3)	VAC14, TAX1BP2, TRX, SNDC	604632	16q22.1-q22.2
Striatonigral degeneration, infantile, 271930 (3)	NUP62, SNDI, IBSN	605815	19q13.33
Stromme syndrome, 243605 (3)	CENPF, CILD31, STROMS	600236	1q41
Structural brain anomalies with impaired intellectual development and craniosynostosis, 618736 (3)	ZIC1, CRS6, BAIDCS	600470	3q24
Structural heart defects and renal anomalies syndrome, 617478 (3)	TMEM260, C14orf101, SHDRA	617449	14q22.3
Sturge-Weber syndrome, somatic, mosaic, 185300 (3)	GNAQ, SWS, CMC1	600998	9q21.2
Stuttering, familial persistent, 1, 184450 (3)	AP4E1, SPG51, CPSQ4, STUT1	607244	15q21.2
Stuttering, familial persistent, 2 (2)	STUT2	609261	12q24.1
Stuttering, familial persistent, 3 (2)	STUT3	614655	3q13.2-q13.33
Stuttering, familial persistent, 4 (2)	STUT4	614668	16q12.1-q23.1
Stuve-Wiedemann syndrome 2, 619751 (3)	IL6ST, HIES4A, HIES4B, STWS2, IMD94	600694	5q11.2
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)	LIFR, STWS, SWS, SJS2	151443	5p13.1
Subcortical laminal heterotopia, X-linked, 300067 (3)	DCX, DBCN, LISX	300121	Xq23
Subcortical laminar heterotopia, 607432 (3)	PAFAH1B1, LIS1	601545	17p13.3
Succinic semialdehyde dehydrogenase deficiency, 271980 (3)	ALDH5A1, SSADH	610045	6p22.3
Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)	OXCT1, OXCT, SCOT	601424	5p13.1
Sucrase-isomaltase deficiency, congenital, 222900 (3)	SI	609845	3q26.1
Sudden cardiac failure, infantile, 617222 (3)	PPA2, SCFI, SCFAI	609988	4q24
Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)	TSPYL1, TSPYL, SIDDT	604714	6q22.1
Suleiman-El-Hattab syndrome, 618950 (3)	TASP1, C20orf13, SULEHS	608270	20p12.1
Sulfide:quinone oxidoreductase deficiency, 619221 (3)	SQOR, SQRDL	617658	15q21.1
Sulfite oxidase deficiency, 272300 (3)	SUOX	606887	12q13.2
Supernumerary der(22)t(8-22) syndrome (4)	DER22t8-22	613700	22q11.2
Supranuclear palsy, progressive atypical, 260540 (3)	MAPT, MTBT1, DDPAC, MSTD	157140	17q21.31
Supranuclear palsy, progressive, 2 (2)	PSNP2	609454	1q31.1
Supranuclear palsy, progressive, 3 (2)	PSNP3	610898	11p12-p11
Supranuclear palsy, progressive, 601104 (3)	MAPT, MTBT1, DDPAC, MSTD	157140	17q21.31
Supravalvar aortic stenosis, 185500 (3)	ELN, SVAS, ADCL1	130160	7q11.23
Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)	SFTPB, SFTB3, SMDP1	178640	2p11.2
Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)	SFTPC, SFTP2, SMDP2	178620	8p21.3
Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)	ABCA3, ABC3, SMDP3	601615	16p13.3
Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)	CSF2RA, SMDP4	306250	Xp22.33
Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)	CSF2RB, SMDP5	138981	22q12.3
Sveinsson chorioretinal atrophy, 108985 (3)	TEAD1, TCF13, REF1	189967	11p15.3
Sweat chloride elevation without CF (3)	CFTR, ABCC7, CF, MRP7	602421	7q31.2
Sweeney-Cox syndrome, 617746 (3)	TWIST1, ACS3, SCS, CRS1, SWCOS	601622	7p21.1
Symmetric circumferential skin creases, congenital, 1, 156610 (3)	TUBB, TUBB5, M40, CDCBM6, CSCSC1	191130	6p21.33
Symmetric circumferential skin creases, congenital, 2, 616734 (3)	MAPRE2, EB2, RP1, CSCSC2	605789	18q12.1-q12.2
Symphalangism, proximal, 1A, 185800 (3)	NOG, SYM1, SYNS1A	602991	17q22
Symphalangism, proximal, 1B, 615298 (3)	GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B, DUPANS	601146	20q11.22
Syncope, familial vasovagal (2)	VVS	609289	15q26
Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3)	BHLHA9, BHLHF42, MSSD, CCSPD	615416	17p13.3
Syndactyly, type 1, with or without craniosynostosis (4)	DUP2q35, C2DUPq35, SDTY1, SD1	185900	2q34-q36
Syndactyly, type III, 186100 (3)	GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP3	121014	6q22.31
Syndactyly, type IV, 186200 (3)	LMBR1, ACHP, C7orf2, PPD2, THYP, LSS	605522	7q36.3
Syndactyly, type V, 186300 (3)	HOXD13, HOX4I, SPD1, BDSD	142989	2q31.1
Synesthesia (2)	SYNSTH	612759	2q24.1
Synpolydactyly 1, 186000 (3)	HOXD13, HOX4I, SPD1, BDSD	142989	2q31.1
Synpolydactyly 3 (2)	SPD3	610234	14q11.2-q12
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)	FBLN1	135820	22q13.31
Systemic lupus erythematosus 16, 614420 (3)	DNASE1L3, SLEB16	602244	3p14.3
T-cell acute lymphoblastic leukemia, somatic, 613065 (3)	BAX	600040	19q13.33
T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)	FOXN1, WHN, TIDAND, TLIND	600838	17q11.2
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3)	STK4, MST1, KRS2, TIIAC	604965	20q13.12
T-cell lymphoma, subcutaneous panniculitis-like, 618398 (3)	HAVCR2, TIM3, SPTCL	606652	5q33.3
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, 618806 (3)	FOXN1, WHN, TIDAND, TLIND	600838	17q11.2
T-cell prolymphocytic leukemia, somatic (3)	ATM, ATA, AT1	607585	11q22.3
TARP syndrome, 311900 (3)	RBM10, DXS8237E, KIAA0122, TARPS	300080	Xp11.3
Takenouchi-Kosaki syndrome, 616737 (3)	CDC42, TKS	116952	1p36.12
Tangier disease, 205400 (3)	ABCA1, ABC1, HPALP1, TGD, HDLCQTL13	600046	9q31.1
Tarsal-carpal coalition syndrome, 186570 (3)	NOG, SYM1, SYNS1A	602991	17q22
Tatton-Brown-Rahman syndrome, 615879 (3)	DNMT3A, TBRS, HESJAS	602769	2p23.3
Tay-Sachs disease, 272800 (3)	HEXA, TSD	606869	15q23
Teebi hypertelorism syndrome 1, 145420 (3)	SPECC1L, KIAA0376, OBLFC1, TBHS1	614140	22q11.23
Teebi hypertelorism syndrome 2, 619736 (3)	CDH11, CAD11, ESWS, TBHS2	600023	16q21
Telangiectasia, hereditary benign (2)	HBT	187260	5q14
Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)	ENG, END, HHT1, ORW	131195	9q34.11
Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)	ACVRL1, ACVRLK1, ALK1, HHT2	601284	12q13.13
Telangiectasia, hereditary hemorrhagic, type 3 (2)	HHT3, ORW3	601101	5q31.3-q32
Telangiectasia, hereditary hemorrhagic, type 4 (2)	HHT4	610655	7p14
Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3)	GDF2, BMP9, HHT5	605120	10q11.22
Temple syndrome (4)	TEMPS	616222	14q32
Temple-Baraitser syndrome, 611816 (3)	KCNH1, EAG, TMBTS, ZLS1	603305	1q32.2
Temtamy preaxial brachydactyly syndrome, 605282 (3)	CHSY1, KIAA0990, TPBS	608183	15q26.3
Temtamy syndrome, 218340 (3)	C12orf57, C10, TEMTYS	615140	12p13.31
Tenorio syndrome, 616260 (3)	RNF125, TRAC1, TNORS	610432	18q12.1
Terminal osseous dysplasia, 300244 (3)	FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2	300017	Xq28
Tessadori-van Haaften neurodevelopmental syndrome 1, 619758 (3)	H4C3, HIST1H4C, H4FG, TEVANED1	602827	6p22.2
Testicular germ cell tumor (2)	TGCT1	300228	Xq27
Testicular tumor, somatic, 273300 (3)	STK11, PJS, LKB1	602216	19p13.3
Tetraamelia syndrome 2, 618021 (3)	RSPO2, CRISTIN2, TETAMS2, HHRRD	610575	8q23.1
Tetralogy of Fallot, 187500 (3)	GATA4, ASD2, VSD1, TACHD, TOF	600576	8p23.1
Tetralogy of Fallot, 187500 (3)	GATA6, AVSD5, ASD9, PACHD	601656	18q11.2
Tetralogy of Fallot, 187500 (3)	JAG1, AGS1, AHD, DCHE, CMT2HH	601920	20p12.2
Tetralogy of Fallot, 187500 (3)	NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2	600584	5q35.1
Tetralogy of Fallot, 187500 (3)	TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR	602054	22q11.21
Tetralogy of Fallot, 187500 (3)	ZFPM2, FOG2, DIH3, SRXY9	603693	8q23.1
Tetrasomy 18p (4)	TET18P	614290	18p
Thalassemia due to Hb Lepore (3)	HBD	142000	11p15.4
Thalassemia, Hispanic gamma-delta-beta, 613985 (3)	LCRB	152424	11p15.4
Thalassemia, alpha-, 604131 (3)	HBA2, HBH, ECYT7	141850	16p13.3
Thalassemia, beta, 613985 (3)	HBB, ECYT6	141900	11p15.4
Thalassemia, delta- (3)	HBD	142000	11p15.4
Thalassemia-beta, dominant inclusion-body, 603902 (3)	HBB, ECYT6	141900	11p15.4
Thalassemias, alpha-, 604131 (3)	HBA1, HBH, METHBA, ECYT7	141800	16p13.3
Thanatophoric dysplasia, type I, 187600 (3)	FGFR3, ACH	134934	4p16.3
Thanatophoric dysplasia, type II, 187601 (3)	FGFR3, ACH	134934	4p16.3
Thauvin-Robinet-Faivre syndrome, 617107 (3)	FIBP, TROFAS	608296	11q13.1
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)	SLC19A3, THMD2, BBGD	606152	2q36.3
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)	SLC25A19, DNC, MUP1, MCPHA, THMD3, THMD4	606521	17q25.1
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)	TPK1, THMD5	606370	7q35
Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)	SLC19A2, THTR1, TRMA, THMD1	603941	1q24.2
Thoracoabdominal syndrome (2)	THAS, TAS	313850	Xq25-q26.1
Thrombocythemia 1, 187950 (3)	THPO, MGDF, MPLLG, TPO, THCYT1	600044	3q27.1
Thrombocythemia 2, 601977 (3)	MPL, TPOR, MPLV, THCYT2	159530	1p34.2
Thrombocythemia 3, 614521 (3)	JAK2, THCYT3	147796	9p24.1
Thrombocythemia, somatic, 187950 (3)	CALR, SSA	109091	19p13.13
Thrombocythemia, somatic, 187950 (3)	SH2B3, LNK	605093	12q24.12
Thrombocytopenia 2, 188000 (3)	ANKRD26, KIAA1074, THC2	610855	10p12.1
Thrombocytopenia 3, 273900 (3)	FYB1, SLAP130, ADAP, THC3	602731	5p13.1
Thrombocytopenia 4, 612004 (3)	CYCS, CYC, THC4	123970	7p15.3
Thrombocytopenia 5, 616216 (3)	ETV6, TEL, THC5	600618	12p13.2
Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3)	GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP	305371	Xp11.23
Thrombocytopenia, X-linked, 313900 (3)	WAS, IMD2, THC1, SCNX	300392	Xp11.23
Thrombocytopenia, X-linked, intermittent, 313900 (3)	WAS, IMD2, THC1, SCNX	300392	Xp11.23
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3)	GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP	305371	Xp11.23
Thrombocytopenia, autosomal dominant, 7, 619130 (3)	IFZF5, ZNFN1A5, PEGASUS, THC7	606238	10q26.13
Thrombocytopenia, congenital amegakaryocytic, 604498 (3)	MPL, TPOR, MPLV, THCYT2	159530	1p34.2
Thrombocytopenia, neonatal alloimmune (3)	ITGB3, GP3A, GT2, BDPLT24	173470	17q21.32
Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)	ITGA2B, GP2B, CD41B, GT1, BDPLT2, BDPLT16	607759	17q21.31
Thrombocytopenia-absent radius syndrome, 274000 (3)	RBM8A, RBM8B, TAR, C1DELq21.1, DEL1q21.1	605313	1q21.1
Thrombophilia 1 due to thrombin defect, 188050 (3)	F2, THPH1, RPRGL2	176930	11p11.2
Thrombophilia 10 due to heparin cofactor II deficiency, 612356 (3)	HCF2, HC2, SERPIND1, THPH10	142360	22q11.21
Thrombophilia 11 due to HRG deficiency, 613116 (3)	HRG, THPH11	142640	3q27.3
Thrombophilia 12 due to thrombomodulin defect, 614486 (3)	THBD, THRM, AHUS6, THPH12	188040	20p11.21
Thrombophilia 13, X-linked, due to factor VIII defect, 301071 (3)	F8, F8C, HEMA, THPH13	300841	Xq28
Thrombophilia 2 due to activated protein C resistance, 188055 (3)	F5, THPH2, RPRGL1	612309	1q24.2
Thrombophilia 3 due to protein C deficiency, autosomal dominant, 176860 (3)	PROC, PC, THPH3, THPH4	612283	2q14.3
Thrombophilia 3 due to protein C deficiency, autosomal recessive, 612304 (3)	PROC, PC, THPH3, THPH4	612283	2q14.3
Thrombophilia 5 due to protein S deficiency, autosomal dominant, 612336 (3)	PROS1, THPH5, THPH6	176880	3q11.1
Thrombophilia 5 due to protein S deficiency, autosomal recessive, 614514 (3)	PROS1, THPH5, THPH6	176880	3q11.1
Thrombophilia 7 due to antithrombin III deficiency, 613118 (3)	SERPINC1, AT3, AT3D, THPH7	107300	1q25.1
Thrombophilia 8, X-linked, due to factor IX defect, 300807 (3)	F9, HEMB, THPH8	300746	Xq27.1
Thrombophilia, familial, due to decreased release of PLAT, 612348 (1)	PLAT, TPA	173370	8p11.21
Thrombosis, hyperhomocysteinemic, 236200 (3)	CBS	613381	21q22.3
Thrombotic thrombocytopenic purpura, hereditary, 274150 (3)	ADAMTS13, VWFCP, TTP	604134	9q34.2
Thyroid adenoma, hyperfunctioning, somatic (3)	TSHR, CHNG1	603372	14q31.1
Thyroid carcinoma with thyrotoxicosis, somatic (3)	TSHR, CHNG1	603372	14q31.1
Thyroid carcinoma, follicular, somatic, 188470 (3)	HRAS	190020	11p15.5
Thyroid carcinoma, follicular, somatic, 188470 (3)	NRAS, ALPS4, NS6, CMNS, NCMS	164790	1p13.2
Thyroid carcinoma, nonmedullary, with cell oxyphilia (2)	TCO	603386	19p13.2
Thyroid carcinoma, papillary, with papillary renal neoplasia (2)	PTCPRN, PRN1	605642	1q21
Thyroid dyshormonogenesis 1, 274400 (3)	SLC5A5, NIS, TDH1	601843	19p13.11
Thyroid dyshormonogenesis 2A, 274500 (3)	TPO, TPX, TDH2A	606765	2p25.3
Thyroid dyshormonogenesis 3, 274700 (3)	TG, AITD3, TDH3	188450	8q24.22
Thyroid dyshormonogenesis 4, 274800 (3)	IYD, DEHAL1, TDH4	612025	6q25.1
Thyroid dyshormonogenesis 5, 274900 (3)	DUOXA2, TDH5	612772	15q21.1
Thyroid dyshormonogenesis 6, 607200 (3)	DUOX2, THOX2, TDH6	606759	15q21.1
Thyroid hormone metabolism, abnormal, 1, 609698 (3)	SECISBP2, SBP2, THMA1	607693	9q22.2
Thyroid hormone metabolism, abnormal, 2, 619855 (3)	DIO1, TXDI1, THMA2	147892	1p32.3
Thyroid hormone metabolism, abnormal, 609698 (3)	SECISBP2, SBP2, THMA1	607693	9q22.2
Thyroid hormone resistance, 188570 (3)	THRB, ERBA2, THR1, PRTH	190160	3p24.2
Thyroid hormone resistance, autosomal recessive, 274300 (3)	THRB, ERBA2, THR1, PRTH	190160	3p24.2
Thyroid hormone resistance, selective pituitary, 145650 (3)	THRB, ERBA2, THR1, PRTH	190160	3p24.2
Thyrotropin-releasing hormone deficiency, 275120 (1)	TRH	613879	3q22.1
Tibial muscular dystrophy, tardive, 600334 (3)	TTN, CMD1G, TMD, LGMDR10, MPRM, HMERF, SALMY	188840	2q31.2
Tietz albinism-deafness syndrome, 103500 (3)	MITF, WS2A, CMM8, COMMAD	156845	3p13
Timothy syndrome, 601005 (3)	CACNA1C, CACNL1A1, CCHL1A1, TS. LQT8	114205	12p13.33
Tn polyagglutination syndrome, somatic, 300622 (3)	C1GALT1C1, COSMC, C1GALT2, TNPS	300611	Xq24
Toenail dystrophy, isolated, 607523 (3)	COL7A1, NDNC8	120120	3p21.31
Tolbutamide poor metabolizer (3)	CYP2C9	601130	10q23.33
Tolchin-Le Caignec syndrome, 618971 (3)	SOX6, TOLCAS	607257	11p15.2
Tonne-Kalscheuer syndrome, 300978 (3)	RLIM, RNF12, TOKAS	300379	Xq13.2
Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3)	MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3	142983	4p16.2
Tooth agenesis, selective, 2 (2)	STHAG2, HYD2	602639	16q12.1
Tooth agenesis, selective, 3, 604625 (3)	PAX9, STHAG3	167416	14q13.3
Tooth agenesis, selective, 4, 150400 (3)	WNT10A, SSPS, STHAG4, OODD	606268	2q35
Tooth agenesis, selective, 5 (2)	STHAG5	610926	10q11.2-q21
Tooth agenesis, selective, 7, 616724 (3)	LRP6, ADCAD2, STHAG7	603507	12p13.2
Tooth agenesis, selective, 8, 617073 (3)	WNT10B, SHFM6, STHAG8	601906	12q13.12
Tooth agenesis, selective, 9, 617275 (3)	GREM2, PRDC, STHAG9	608832	1q43
Tooth agenesis, selective, X-linked 1, 313500 (3)	EDA, ED1, ECTD1, HED1, STHAGX1	300451	Xq13.1
Total anomalous pulmonary venous return (2)	TAPVR1	106700	4q12
Tourette syndrome (2)	GTS	137580	11q23
Tourette syndrome, 137580 (3)	SLITRK1, KIAA1910, TTM	609678	13q31.1
Townes-Brocks branchiootorenal-like syndrome, 107480 (3)	SALL1, HSAL1, TBS	602218	16q12.1
Townes-Brocks syndrome 1, 107480 (3)	SALL1, HSAL1, TBS	602218	16q12.1
Traboulsi syndrome, 601552 (3)	ASPH, HAAH, FDLAB	600582	8q12.3
Transaldolase deficiency, 606003 (3)	TALDO1	602063	11p15.5
Transcobalamin II deficiency, 275350 (3)	TCN2, TC2	613441	22q12.2
Transient bullous of the newborn, 131705 (3)	COL7A1, NDNC8	120120	3p21.31
Transient erythroblastopenia of childhood (2)	TEC	227050	19q13.2
Treacher Collins syndrome 1, 154500 (3)	TCOF1, MFD1, TCS1	606847	5q32-q33.1
Treacher Collins syndrome 2, 613717 (3)	POLR1D, RPA16, RPAC2, TCS2	613715	13q12.2
Treacher Collins syndrome 3, 248390 (3)	POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3, HLD11	610060	6p21.1
Treacher-Collins syndrome 4, 618939 (3)	POLR1B, TCS4	602000	2q14.1
Trehalase deficiency, 612119 (3)	TREH, TREHD	275360	11q23.3
Tremor, hereditary essential, 6, 618866 (3)	NOTCH2NLC, NIID, ETM6, OPDM3	618025	1q21.2
Trichilemmal cyst 1 (2)	TRICY1	609649	3p24-p21.2
Trichodontoosseous syndrome, 190320 (3)	DLX3, TDO, AI4	600525	17q21.33
Trichoepithelioma, multiple familial, 1, 601606 (3)	CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS, FTDALS8	605018	16q12.1
Trichoepithelioma, multiple familial, 2 (2)	MFT2, TEM	612099	9p21
Trichohepatoenteric syndrome 1, 222470 (3)	TTC37, KIAA0372	614589	5q15
Trichohepatoenteric syndrome 2, 614602 (3)	SKIV2L, SKI2, SKI2W, THES2	600478	6p21.33
Trichohepatoneurodevelopmental syndrome, 618268 (3)	CCDC47, THNS	618260	17q23.3
Trichomegaly, 190330 (3)	FGF5, TCMGLY	165190	4q21.21
Trichorhinophalangeal syndrome, type I, 190350 (3)	TRPS1	604386	8q23.3
Trichorhinophalangeal syndrome, type II (4)	TRPS2, LGCR, LGS	150230	8q24.11-q24.13
Trichorhinophalangeal syndrome, type III, 190351 (3)	TRPS1	604386	8q23.3
Trichothiodystrophy 1, photosensitive, 601675 (3)	ERCC2, EM9, XPD, COFS2, TTD1	126340	19q13.32
Trichothiodystrophy 2, photosensitive, 616390 (3)	ERCC3, XPB, TTD2	133510	2q14.3
Trichothiodystrophy 3, photosensitive, 616395 (3)	GTF2H5, TTD3, TFB5, C6orf175, TTDA	608780	6q25.3
Trichothiodystrophy 4, nonphotosensitive, 234050 (3)	MPLKIP, C7orf11, ABHS, TTDN1, TTD4	609188	7p14.1
Trichothiodystrophy 5, nonphotosensitive, 300953 (3)	RNF113A, ZNF183, TTD5	300951	Xq24
Trichothiodystrophy 6, nonphotosensitive, 616943 (3)	GTF2E2, TTD6	189964	8p12
Trichothiodystrophy 7, nonphotosensitive, 618546 (3)	TARS1, TARS, TTD7	187790	5p13.3
Trichothiodystrophy 8, nonphotosensitive, 619691 (3)	AARS1, AARS, CMT2N, DEE29, HDLS2, TTD8	601065	16q22.1
Trifunctional protein deficiency, 609015 (3)	HADHB	143450	2p23.3
Trigonocephaly 1, 190440 (3)	FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL	136350	8p11.23
Trigonocephaly 2, 614485 (3)	FREM1, C9orf154, BNAR, MOTA, TRIGNO2	608944	9p22.3
Trimethylaminuria, 602079 (3)	FMO3, TMAU	136132	1q24.3
Triokinase and FMN cyclase deficiency syndrome, 618805 (3)	TKFC, DAK, TKFCD	615844	11q12.2
Triphalangeal thumb, type I, 174500 (3)	LMBR1, ACHP, C7orf2, PPD2, THYP, LSS	605522	7q36.3
Triphalangeal thumb-polysyndactyly syndrome, 174500 (3)	LMBR1, ACHP, C7orf2, PPD2, THYP, LSS	605522	7q36.3
Trismus-pseudocamptodactyly syndrome, 158300 (3)	MYH8, DA7	160741	17p13.1
Tropical calcific pancreatitis, 608189 (3)	SPINK1, PSTI, PCTT, TATI, TCP	167790	5q32
Troyer syndrome, 275900 (3)	SPART, KIAA0610, SPG20	607111	13q13.3
Tuberous sclerosis-1, 191100 (3)	TSC1, LAM	605284	9q34.13
Tuberous sclerosis-2, 613254 (3)	TSC2, LAM	191092	16p13.3
Tubulointerstitial kidney disease, autosomal dominant, 1, 162000 (3)	UMOD, ADTKD1	191845	16p12.3
Tubulointerstitial kidney disease, autosomal dominant, 2, 174000 (3)	MUC1, PUM, ADTKD2	158340	1q22
Tubulointerstitial kidney disease, autosomal dominant, 4, 613092 (3)	REN, RTD, ADTKD4	179820	1q32.1
Tubulointerstitial kidney disease, autosomal dominant, 5, 617056 (3)	SEC61A1, SEC61, ADTKD5	609213	3q21.3
Tukel syndrome (2)	TUKLS	609428	21q22
Tumor predisposition syndrome, 614327 (3)	BAP1, TPDS, KURIS	603089	3p21.1
Tumoral calcinosis, familial, normophosphatemic, 610455 (3)	SAMD9, NFTC, MIRAGE, M7MLS2	610456	7q21.2
Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900 (3)	GALNT3, HHS, HFTC1	601756	2q24.3
Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3)	FGF23, ADHR, HPDR2, PHPTC, HFTC2	605380	12p13.32
Turner syndrome-associated neurocognitive phenotype (2)	VSPA	313000	Xp22.33
Turnpenny-Fry syndrome, 618371 (3)	PCGF2, RNF110, ZNF144, MEL18, TPFS	600346	17q12
Tylosis with esophageal cancer, 148500 (3)	RHBDF2, IRHOM2, TOC	614404	17q25.1
Type 2 diabetes mellitus, 125853 (3)	HNF1B, TCF2, HNF2, RCAD, T2D, ADTKD3	189907	17q12
Tyrosinemia, type I, 276700 (3)	FAH	613871	15q25.1
Tyrosinemia, type II, 276600 (3)	TAT	613018	16q22.2
Tyrosinemia, type III, 276710 (3)	HPD	609695	12q24.31
UV-sensitive syndrome 1, 600630 (3)	ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11	609413	10q11.23
UV-sensitive syndrome 2, 614621 (3)	ERCC8, CKN1, CSA, UVSS2	609412	5q12.1
UV-sensitive syndrome 3, 614640 (3)	UVSSA, KIAA1530, UVSS3	614632	4p16.3
Ullrich congenital muscular dystrophy 1, 254090 (3)	COL6A1, BTHLM1, UCHMD1	120220	21q22.3
Ullrich congenital muscular dystrophy 1, 254090 (3)	COL6A2, BTHLM1, UCMD1	120240	21q22.3
Ullrich congenital muscular dystrophy 1, 254090 (3)	COL6A3, DYT27, BTHLM1, UCMD1	120250	2q37.3
Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)	WNT7A	601570	3p25.1
Ulnar-mammary syndrome, 181450 (3)	TBX3	601621	12q24.21
Uncombable hair syndrome, 191480 (3)	PADI3, UHS1	606755	1p36.13
Urbach-Wiethe disease, 247100 (3)	ECM1, URBWD	602201	1q21.2
Urofacial syndrome 1, 236730 (3)	HPSE2, HPA2, UFS1	613469	10q24.2
Urofacial syndrome 2, 615112 (3)	LRIG2, LIG2, KIAA0806, UFS2	608869	1p13.2
Usher syndrome type 3B, 614504 (3)	HARS1, HARS, USH3B, CMT2W	142810	5q31.3
Usher syndrome, type 1B, 276900 (3)	MYO7A, USH1B, DFNB2, DFNA11	276903	11q13.5
Usher syndrome, type 1C, 276904 (3)	USH1C, DFNB18A	605242	11p15.1
Usher syndrome, type 1D, 601067 (3)	CDH23, USH1D, DFNB12, PITA5	605516	10q22.1
Usher syndrome, type 1D/F digenic, 601067 (3)	CDH23, USH1D, DFNB12, PITA5	605516	10q22.1
Usher syndrome, type 1D/F digenic, 601067 (3)	PCDH15, DFNB23, USH1F	605514	10q21.1
Usher syndrome, type 1E (2)	USH1E	602097	21q21
Usher syndrome, type 1F, 602083 (3)	PCDH15, DFNB23, USH1F	605514	10q21.1
Usher syndrome, type 1G, 606943 (3)	USH1G, SANS	607696	17q25.1
Usher syndrome, type 1H (2)	USH1H	612632	15q22-q23
Usher syndrome, type 2A, 276901 (3)	USH2A, RP39	608400	1q41
Usher syndrome, type 2C, 605472 (3)	ADGRV1, GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C	602851	5q14.3
Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3)	ADGRV1, GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C	602851	5q14.3
Usher syndrome, type 2D, 611383 (3)	WHRN, CIP98, KIAA1526, DFNB31, USH2D	607928	9q32
Usher syndrome, type 3A, 276902 (3)	CLRN1, USH3A, USH3, RP61	606397	3q25.1
Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)	PDZD7, DFNB57	612971	10q24.31
Usher syndrome, type IJ, 614869 (3)	CIB2, KIP2	605564	15q25.1
Usher syndrome, type IK (2)	USH1K	614990	10p11.21-q21.1
Usher syndrome, type IV, 618144 (3)	ARSG, KIAA1001, USH4	610008	17q24.2
Usmani-Riazuddin syndrome, autosomal dominant, 619467 (3)	AP1G1, ADTG, CLAPG1, USRISD	603533	16q22.2
Usmani-Riazuddin syndrome, autosomal recessive, 619548 (3)	AP1G1, ADTG, CLAPG1, USRISD	603533	16q22.2
VACTERL association, X-linked, 314390 (3)	ZIC3, HTX1, HTX, VACTERLX	300265	Xq26.3
VEXAS syndrome, somatic, 301054 (3)	UBA1, UBE1, GXP1, A1ST, SMAX2, AMCX1, VEXAS	314370	Xp11.3
VISS syndrome, 619472 (3)	IPO8, RANBP8, VISS	605600	12p11.21
VLCAD deficiency, 201475 (3)	ACADVL, VLCAD	609575	17p13.1
Van Esch-O'Driscoll syndrome, 301030 (3)	POLA1, VEODS	312040	Xp22.11-p21.3
Van Maldergem syndrome 1, 601390 (3)	DCHS1, PCDH16, FIB1, CDH19, VMLDS1, MVP2	603057	11p15.4
Van Maldergem syndrome 2, 615546 (3)	FAT4, VMLDS2, HKLLS2	612411	4q28.1
Van den Ende-Gupta syndrome, 600920 (3)	SCARF2, SREC2, VDEGS	613619	22q11.21
Vascular malformation, primary intraosseous, 606893 (3)	ELMO2, CED12, VMPI	606421	20q13.12
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688 (3)	ADA2, CECR1, VAIHS, SNEDS	607575	22q11.1
Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, 192315 (3)	TREX1, AGS1, CRV, HERNS, RVCLS	606609	3p21.31
Velocardiofacial syndrome, 192430 (3)	TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR	602054	22q11.21
Venous malformations, multiple cutaneous and mucosal, 600195 (3)	TEK, TIE2, VMCM, GLC3E	600221	9p21.2
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, 115000 (3)	RYR2, VTSIP, ARVD2, ARVC2, VACRDS	180902	1q43
Ventricular fibrillation, familial, 1, 603829 (3)	SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2	600163	3p22.2
Ventricular septal defect 1, 614429 (3)	GATA4, ASD2, VSD1, TACHD, TOF	600576	8p23.1
Ventricular septal defect 2, 614431 (3)	CITED2, MRG1, P35SRJ, VSD2, ASD8	602937	6q24.1
Ventricular septal defect 3, 614432 (3)	NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2	600584	5q35.1
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)	RYR2, VTSIP, ARVD2, ARVC2, VACRDS	180902	1q43
Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)	CASQ2	114251	1p13.1
Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3)	TECRL, TERL, SRD5A2L2, GPSN2L, CPVT3	617242	4q13.1
Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3)	CALM1, PHKD, CPVT4, LQT14	114180	14q32.11
Ventricular tachycardia, idiopathic, 192605 (3)	GNAI2, GNAI2B, GIP	139360	3p21.31
Ventriculomegaly and arthrogryposis, 619501 (3)	KIDINS220, ARMS, SINO, VENARG	615759	2p25.1
Ventriculomegaly with cystic kidney disease, 219730 (3)	CRB2, FSGS9, VMCKD	609720	9q33.3
Verheij syndrome, 615583 (3)	PUF60, FIR, SIAHBP1, VRJS	604819	8q24.3
Vertebral anomalies and variable endocrine and T-cell dysfunction, 618223 (3)	TBX2, VETD	600747	17q23.2
Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)	HAAO, VCRL1	604521	2p21
Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3)	KYNU, KYNUU, VCRL2	605197	2q22.2
Vertebral, cardiac, renal, and limb defects syndrome 3, 618845 (3)	NADSYN1, VCRL3	608285	11q13.4
Vertebral, cardiac, tracheoesophageal, renal, and limb defects, 619227 (3)	WBP11, NPWBP, SIPP1, VCTERL	618083	12p12.3
Vertical talus, congenital, 192950 (3)	HOXD10, HOX4D	142984	2q31.1
Vertigo, benign recurrent, 2 (2)	BRV2	613106	22q12
Ververi-Brady syndrome, 617982 (3)	QRICH1, VERBRAS	617387	3p21.31
Vesicoureteral reflux (2)	VUR	193000	1p13
Vesicoureteral reflux 2, 610878 (3)	ROBO2, SAX3, KIAA1568	602431	3p12.3
Vesicoureteral reflux 3, 613674 (3)	SOX17, VUR3	610928	8q11.23
Vesicoureteral reflux 4 (2)	VUR4	614317	5q14.2
Vesicoureteral reflux 5 (2)	VUR5	614318	13q33.2
Vesicoureteral reflux 6 (2)	VUR6	614319	18q12.3
Vesicoureteral reflux 7 (2)	VUR7	615390	12p11-q13
Vesicoureteral reflux 8, 615963 (3)	TNXB, TNX, TNXB1, TNXBS, TNXB2, EDSCLL1, VUR8	600985	6p21.33-p21.32
Vestibulopathy, familial (2)	BPPV	193007	6q
Vibratory urticaria, 125630 (3)	ADGRE2, EMR2, VBU	606100	19p13.12
Vici syndrome, 242840 (3)	EPG5, KIAA1632, HEEW1, VICIS	615068	18q12.3-q21.1
Visceral myopathy 1, 155310 (3)	ACTG2, ACTA3, VSCM1, MMIHS5	102545	2p13.1
Visceral myopathy 2, 619350 (3)	MYH11, AAT4, FAA4, VSCM2	160745	16p13.11
Visceral neuropathy, familial, 1, autosomal recessive, 243180 (3)	ERBB3, LCCS2, FERLK, VSCN1	190151	12q13.2
Vissers-Bodmer syndrome, 619033 (3)	CNOT1, NOT1, HPE12, VIBOS	604917	16q21
Vitamin D-dependent rickets, type 3, 619073 (3)	CYP3A4, VDDR3	124010	7q22.1
Vitamin D-dependent rickets, type I, 264700 (3)	CYP27B1, VDD1, PDDR	609506	12q14.1
Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3)	GGCX, VKCFD1	137167	2p11.2
Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)	VKORC1, VKOR, VKCFD2, FLJ00289	608547	16p11.2
Vitreoretinochoroidopathy, 193220 (3)	BEST1, VMD2, ARB, RP50	607854	11q12.3
Vitreoretinopathy, neovascular inflammatory, 193235 (3)	CAPN5, HTRA3, VRNI	602537	11q13.5
Vohwinkel syndrome with ichthyosis, 604117 (3)	LOR	152445	1q21.3
Vohwinkel syndrome, 124500 (3)	GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID, BAPS	121011	13q12.11
Vulto-van Silfout-de Vries syndrome, 615828 (3)	DEAF1, SPN, ZMYND5, VSVS, NEDHELS	602635	11p15.5
WAGRO syndrome (4)	WAGRO, DEL11p14p12	612469	11p13-p12
WHIM syndrome 1, 193670 (3)	CXCR4, D2S201E, NPY3R, WHIMS1	162643	2q22.1
Waardenburg syndrome, type 1, 193500 (3)	PAX3, WS1, HUP2, CDHS, WS3	606597	2q36.1
Waardenburg syndrome, type 2A, 193510 (3)	MITF, WS2A, CMM8, COMMAD	156845	3p13
Waardenburg syndrome, type 2B (2)	WS2B	600193	1p21-p13.3
Waardenburg syndrome, type 2C (2)	WS2C	606662	8p23
Waardenburg syndrome, type 2D, 608890 (3)	SNAI2, SLUG, WS2D	602150	8q11.21
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)	SOX10, WS4, WS4C, PCWH	602229	22q13.1
Waardenburg syndrome, type 3, 148820 (3)	PAX3, WS1, HUP2, CDHS, WS3	606597	2q36.1
Waardenburg syndrome, type 4A, 277580 (3)	EDNRB, HSCR2, ABCDS, WS4A	131244	13q22.3
Waardenburg syndrome, type 4B, 613265 (3)	EDN3, WS4B, HSCR4	131242	20q13.32
Waardenburg syndrome, type 4C, 613266 (3)	SOX10, WS4, WS4C, PCWH	602229	22q13.1
Waardenburg syndrome/albinism, digenic, 103470 (3)	TYR, SHEP3, CMM8, OCA1A, ATN	606933	11q14.3
Waardenburg syndrome/ocular albinism, digenic, 103470 (3)	MITF, WS2A, CMM8, COMMAD	156845	3p13
Wagner syndrome 1, 143200 (3)	VCAN, CSPG2, WGN, WGN1, ERVR	118661	5q14.2-q14.3
Waisman syndrome, 311510 (3)	RAB39B, XLID72, WSMN, MRX72	300774	Xq28
Warburg micro syndrome 1, 600118 (3)	RAB3GAP1, WARBM1, P130, MARTS2	602536	2q21.3
Warburg micro syndrome 2, 614225 (3)	RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2, MARTS1	609275	1q41
Warburg micro syndrome 3, 614222 (3)	RAB18, WARBM3	602207	10p12.1
Warburg micro syndrome 4, 615663 (3)	TBC1D20, C20orf140, WARBM4	611663	20p13
Warburg-Cinotti syndrome, 618175 (3)	DDR2, NTRKR3, TKT, WRCN	191311	1q23.3
Warfarin resistance, 122700 (3)	VKORC1, VKOR, VKCFD2, FLJ00289	608547	16p11.2
Warfarin sensitivity, 122700 (3)	CYP2C9	601130	10q23.33
Warsaw breakage syndrome, 613398 (3)	DDX11, CHLR1, KRG2	601150	12p11.21
Watson syndrome, 193520 (3)	NF1, VRNF, WSS, NFNS	613113	17q11.2
Weaver syndrome, 277590 (3)	EZH2, EZH1, WVS	601573	7q36.1
Weill-Marchesani 4 syndrome, recessive, 613195 (3)	ADAMTS17, WMS4	607511	15q26.3
Weill-Marchesani syndrome 1, recessive, 277600 (3)	ADAMTS10, WMS1	608990	19p13.2
Weill-Marchesani syndrome 2, dominant, 608328 (3)	FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS	134797	15q21.1
Weiss-Kruszka syndrome, 618619 (3)	ZNF462, KIAA1803, WSKA	617371	9q31.2
Welander distal myopathy, 604454 (3)	TIA1, WDM, ALS26	603518	2p13.3
Werner syndrome, 277700 (3)	RECQL2, RECQ3, WRN	604611	8p12
Weyers acrofacial dysostosis, 193530 (3)	EVC2, LBN, WAD	607261	4p16.2
White sponge nevus 1, 193900 (3)	KRT4, CYK4, WSN1	123940	12q13.13
White sponge nevus 2, 615785 (3)	KRT13, WSN2	148065	17q21.2
White-Kernohan syndrome, 619426 (3)	DDB1, WHIKERS	600045	11q12.2
White-Sutton syndrome, 616364 (3)	POGZ, KIAA0461, MRD37, WHSUS	614787	1q21.3
Wieacker-Wolff syndrome, 314580 (3)	ZC4H2, KIAA1166, WRWF, MRXS4, WRWFFR	300897	Xq11.2
Wieacker-Wolff syndrome, female-restricted, 301041 (3)	ZC4H2, KIAA1166, WRWF, MRXS4, WRWFFR	300897	Xq11.2
Wiedemann-Rautenstrauch syndrome, 264090 (3)	POLR3A, RPC1, RPC155, ADDH, HLD7, WDRTS	614258	10q22.3
Wiedemann-Steiner syndrome, 605130 (3)	KMT2A, MLL, HRX, WDSTS	159555	11q23.3
Williams-Beuren syndrome (4)	WBS, WMS, WS, DEL7q11, C7DELq11	194050	7q11.23
Wilms tumor 2, 194071 (3)	ICR1, BWS, WT2, SRS1	616186	11p15.5
Wilms tumor, 194070 (3)	BRCA2, FANCD1, BROVCA2, GLM3, PNCA2	600185	13q13.1
Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome (4)	DEL11p13, C11DELp13, WAGR	194072	11p13
Wilms tumor, somatic, 194070 (3)	GPC3, SDYS, SGBS1	300037	Xq26.2
Wilms tumor, type 1, 194070 (3)	WT1, NPHS4	607102	11p13
Wilms tumor, type 3 (2)	WT3	194090	16q
Wilms tumor, type 4 (2)	WT4	601363	17q12-q21
Wilson disease, 277900 (3)	ATP7B, WND	606882	13q14.3
Wilson-Turner syndrome, 309585 (3)	LAS1L, MRXSWTS	300964	Xq12
Wiskott-Aldrich syndrome 2, 614493 (3)	WIPF1, WASPIP, WIP, WAS2	602357	2q31.1
Wiskott-Aldrich syndrome, 301000 (3)	WAS, IMD2, THC1, SCNX	300392	Xp11.23
Witteveen-Kolk syndrome, 613406 (3)	SIN3A, WITKOS	607776	15q24.2
Wolcott-Rallison syndrome, 226980 (3)	EIF2AK3, PEK, PERK, WRS	604032	2p11.2
Wolf-Hirschhorn syndrome (4)	WHS	194190	4p16.3
Wolff-Parkinson-White syndrome, 194200 (3)	PRKAG2, WPWS, CMH6	602743	7q36.1
Wolfram syndrome 1, 222300 (3)	WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41	606201	4p16.1
Wolfram syndrome 2, 604928 (3)	CISD2, WFS2, ZCD2, ERIS	611507	4q24
Wolfram-like syndrome, autosomal dominant, 614296 (3)	WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41	606201	4p16.1
Wolman disease, 278000 (3)	LIPA, CESD	613497	10q23.31
Woodhouse-Sakati syndrome, 241080 (3)	DCAF17, C20orf37	612515	2q31.1
Woods-Black-Norbury syndrome (2)	INDX	300076	Xq26-qter
Woolly hair, autosomal dominant, 194300 (3)	KRT74, K6IRS4, KRT6IRS4, HTSS2, HYPT3, ADWH	608248	12q13.13
Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3)	LPAR6, P2RY5, P2Y5, LAH3, ARWH1, HYPT8	609239	13q14.2
Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3)	LIPH, LAH2, ARWH2, HYPT7	607365	3q27.2
Woolly hair, autosomal recessive 3, 616760 (3)	KRT25, K25, KRT24IRS1, ARWH3	616646	17q21.2
Wrinkly skin syndrome, 278250 (3)	ATP6V0A2, WSS, ARCL2A	611716	12q24.31
X inactivation, familial skewed, 2 (2)	SXI2	300179	Xq25-q26
X-inactivation, familial skewed, 300087 (3)	XIC, XCE, XIST, SXI1	314670	Xq13.2
XFE progeroid syndrome, 610965 (3)	ERCC4, XPF, FANCQ, XFEPS	133520	16p13.12
Xanthinuria, type I, 278300 (3)	XDH, XAN1	607633	2p23.1
Xanthinuria, type II, 603592 (3)	MOCOS, MCS, XAN2	613274	18q12.2
Xeroderma pigmentosum, group A, 278700 (3)	XPA, XPAC	611153	9q22.33
Xeroderma pigmentosum, group B, 610651 (3)	ERCC3, XPB, TTD2	133510	2q14.3
Xeroderma pigmentosum, group C, 278720 (3)	XPC, XPCC	613208	3p25.1
Xeroderma pigmentosum, group D, 278730 (3)	ERCC2, EM9, XPD, COFS2, TTD1	126340	19q13.32
Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)	DDB2	600811	11p11.2
Xeroderma pigmentosum, group F, 278760 (3)	ERCC4, XPF, FANCQ, XFEPS	133520	16p13.12
Xeroderma pigmentosum, group G, 278780 (3)	ERCC5, XPG, COFS3	133530	13q33.1
Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)	ERCC5, XPG, COFS3	133530	13q33.1
Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)	ERCC4, XPF, FANCQ, XFEPS	133520	16p13.12
Xeroderma pigmentosum, variant type, 278750 (3)	POLH, XPV	603968	6p21.1
Xia-Gibbs syndrome, 615829 (3)	AHDC1, XIGIS, MRD25	615790	1p36.11-p35.3
Xp11.22 microduplication syndrome (4)	DUPXp11.22, MRX17, MRX31	300705	Xp11.22
Xq21 deletion syndrome (4)	DELXq21, CXDELq21	303110	Xq21
Xq25 duplication syndrome (4)	DUPXq25	300979	Xq25
Yoon-Bellen neurodevelopmental syndrome, 619701 (3)	OGDHL, KIAA1290, YOBELN	617513	10q11.23
You-Hoover-Fong syndrome, 616954 (3)	TELO2, TEL2, CLK2, KIAA0683, HCLK2, YHFS	611140	16p13.3
Yuan-Harel-Lupski syndrome (4)	YUHAL	616652	17p12-p11.2
Yunis-Varon syndrome, 216340 (3)	FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP	609390	6q21
ZTTK syndrome, 617140 (3)	SON, TOKIMS	182465	21q22.11
Zaki syndrome, 619648 (3)	WLS, GPR177, EVI, ZKS	611514	1p31.3
Zimmermann-Laband syndrome 1, 135500 (3)	KCNH1, EAG, TMBTS, ZLS1	603305	1q32.2
Zimmermann-Laband syndrome 2, 616455 (3)	ATP6V1B2, ATP6B2, VPP3, DOOD, ZLS2	606939	8p21.3
Zimmermann-Laband syndrome 3, 618658 (3)	KCNN3, SK3, SKCA3, ZLS3	602983	1q21.3
Zinc deficiency, transient neonatal, 608118 (3)	SLC30A2, ZNT2, TNZD	609617	1p36.11
Zygodactyly 1 (2)	ZD1	609815	3p21.31
[?Birbeck granule deficiency], 613393 (3)	CD207, LANGERIN, CLEC4K	604862	2p13.3
[?Homosexuality, male] (2)	HMS1, GAY1	306995	Xq28
[?Hypertryptophanemia], 600627 (3)	TDO2, TPH2, TRPO, HYPTRP	191070	4q32.1
[?Phosphohydroxylysinuria], 615011 (3)	PHYKPL, AGXT2L2, PHLU	614683	5q35.3
[AMP deaminase deficiency, erythrocytic], 612874 (3)	AMPD3	102772	11p15.4
[Acetylation, slow], 243400 (3)	NAT2, AAC2	612182	8p22
[Adiponectin, serum level of, QTL5] (2)	ADIPQTL5	613836	16q23.3
[Alpha-actinin-3 deficiency], 617749 (3)	ACTN3, ACTN3D	102574	11q13.2
[Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3)	MC1R, SHEP2, CMM5	155555	16q24.3
[Angiotensin I-converting enzyme, benign serum increase] (3)	ACE, DCP1, ACE1, MVCD3, ICH	106180	17q23.3
[Anhaptoglobinemia], 614081 (3)	HP	140100	16q22.2
[Aquaporin-1 deficiency], 110450 (3)	AQP1, CHIP28, CO	107776	7p14.3
[Axillary odor, variation in], 117800 (3)	ABCC11, MRP8, EWWD, WW	607040	16q12.1
[Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)	AGXT2, AGT2, BAIBA	612471	5p13.2
[Beta-glycopyranoside tasting], 617956 (3) {Alcohol dependence, susceptibility to}, 103780 (3)	TAS2R16, T2R16, BGLPT	604867	7q31.32
[Bilirubin, serum level of, QTL1], 601816 (3)	UGT1A1, UGT1, GNT1, BILIQTL1	191740	2q37.1
[Birth weight QTL 1] (2)	FGQTL2, BWQTL1	613219	7p15-p13
[Birth weight QTL 2] (2)	BWQTL2	613459	3q25.3
[Birth weight QTL 3] (2)	FGQTL6, BWQTL3	613460	3q21
[Birth weight QTL4] (2)	BWQTL4	615192	6p22.3
[Blood group Cromer], 613793 (3)	CD55, DAF, CROM, CHAPLE	125240	1q32.2
[Blood group GIL], 607457 (3)	AQP3	600170	9p13.3
[Blood group, ABO system], 616093 (3)	ABO	110300	9q34.2
[Blood group, Auberger system], 111200 (3)	LU, AU, BCAM	612773	19q13.32
[Blood group, Colton], 110450 (3)	AQP1, CHIP28, CO	107776	7p14.3
[Blood group, Diego], 110500 (3)	SLC4A1, AE1, EPB3, SPH4, SAO, CHC	109270	17q21.31
[Blood group, Dombrock], 616060 (3)	ART4, DO, DOK1	110600	12p12.3
[Blood group, Duffy system], 110700 (3)	ACKR1, DARC, FY, GPD, WBCQ1	613665	1q23.2
[Blood group, EMM system], 619812 (3)	PIGG, GPI7, NEDHSCA, EMM	616918	4p16.3
[Blood group, Froese], 601551 (3)	SLC4A1, AE1, EPB3, SPH4, SAO, CHC	109270	17q21.31
[Blood group, Gerbich], 616089 (3)	GYPC, GE, GPC	110750	2q14.3
[Blood group, Ii], 110800 (3)	GCNT2, Ii, CTRCT13	600429	6p24.3-p24.2
[Blood group, Indian system], 609027 (3)	CD44, MDU2, MDU3, MIC4, IN	107269	11p13
[Blood group, John-Milton-Hagen system], 614745 (3)	SEMA7A, SEMAL, SEMAK1, CDW108, JMH	607961	15q24.1
[Blood group, Kell], 110900 (3)	KEL	613883	7q34
[Blood group, Kidd], 111000 (3)	SLC14A1, JK, UTE, UT1	613868	18q12.3
[Blood group, Knops system], 607486 (3)	CR1, C3BR	120620	1q32.2
[Blood group, Landsteiner-Wiener], 111250 (3)	ICAM4, CD242, LW	614088	19p13.2
[Blood group, Langereis system], 111600 (3)	ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2	605452	2q35
[Blood group, Lewis], 618983 (3)	FUT3, LE	111100	19p13.3
[Blood group, Lutheran null], 247420 (3)	LU, AU, BCAM	612773	19q13.32
[Blood group, Lutheran system], 111200 (3)	LU, AU, BCAM	612773	19q13.32
[Blood group, MNSs system], 111300 (3)	GYPA, MN, GPA	617922	4q31.21
[Blood group, OK], 111380 (3)	BSG	109480	19p13.3
[Blood group, P1PK system, P(k) phenotype], 111400 (3)	B3GALT3, GLCT3, GLOB	603094	3q26.1
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)	A4GALT, P1PK	607922	22q13.2
[Blood group, P1Pk system, p phenotype], 111400 (3)	A4GALT, P1PK	607922	22q13.2
[Blood group, RH system], 111690 (3)	RHD, HDFNRH	111680	1p36.11
[Blood group, Radin], 111620 (3)	ERMAP, SC, RD	609017	1p34.2
[Blood group, Raph], 179620 (3)	CD151, PETA3, SFA1, MER2, EBS7	602243	11p15.5
[Blood group, Rodgers], 614374 (3)	C4A, C4S, C4AD	120810	6p21.33
[Blood group, Scianna system], 111750 (3)	ERMAP, SC, RD	609017	1p34.2
[Blood group, Sid system], 615018 (3)	B4GALGT2, GALGT2, SD, SDA	111730	17q21.32
[Blood group, Ss], 111740 (3)	GYPB, SS	617923	4q31.21
[Blood group, Stoltzfus system] (2)	SF	111800	4q28-q31
[Blood group, Swann], 601550 (3)	SLC4A1, AE1, EPB3, SPH4, SAO, CHC	109270	17q21.31
[Blood group, Vel system], 615264 (3)	SMIM1, VEL	615242	1p36.32
[Blood group, Waldner], 112010 (3)	SLC4A1, AE1, EPB3, SPH4, SAO, CHC	109270	17q21.31
[Blood group, Wright], 112050 (3)	SLC4A1, AE1, EPB3, SPH4, SAO, CHC	109270	17q21.31
[Blood group, Yt system], 112100 (3)	ACHE, YT	100740	7q22.1
[Blood group, globoside system], 615021 (3)	B3GALT3, GLCT3, GLOB	603094	3q26.1
[Blood pressure regulation QTL], 145500 (2)	ATP1B1	182330	1q24.2
[Blood pressure regulation QTL], 145500 (2)	RGS5	603276	1q23.3
[Body mass index QTL 15] (2)	BMIQ15	612967	17q23.2-q25.1
[Body mass index QTL13] (2)	BMIQ13	612459	2q14.1
[Body mass index QTL16] (4)	BMIQ16, DEL16p.11.2, C16DELp11.2	613444	16p11.2
[Body mass index QTL1] (2)	BMIQ1	606641	7q32.3
[Body mass index QTL2] (2)	BMIQ2	606643	13q14
[Body mass index QTL3] (2)	BMIQ3	607446	6q23-q25
[Body mass index QTL5] (2)	BMIQ5	608558	16p13
[Body mass index QTL6] (2)	BMIQ6	608559	20pter-p11.2
[Bombay phenotype, digenic], 616754 (3)	FUT2, SE, B12QTL1	182100	19q13.33
[Bombay phenotype], 616754 (3)	FUT1, H, HH	211100	19q13.33
[Bone mineral density QTL 10] (2)	BMND10	612113	8q24
[Bone mineral density QTL 11] (2)	BMND11	612114	6q25
[Bone mineral density QTL 13] (2)	BMND13	612727	16q23
[Bone mineral density QTL 14] (2)	BMND14	612728	1p33-p32
[Bone mineral density QTL 15], 613418 (3)	MIR2861, MIRN2861, BMND15	613405	9q34.11
[Bone mineral density QTL 2] (2)	BMND2	605833	1q21-q23
[Bone mineral density QTL 3] (2)	BMND3	606928	1p36
[Bone mineral density QTL 4] (2)	BMND4	300536	Xq27
[Bone mineral density QTL 5] (2)	BMND5	609354	11q23
[Bone mineral density QTL 6] (2)	BMND6	609876	21q22.13-qter
[Bone mineral density QTL 9] (2)	BMND9	612110	13q14
[Bone mineral density variability 1], 601884 (3)	LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4	603506	11q13.2
[Bone size quantitative trait locus 3] (2)	BSZQTL3	610649	8q24
[C-reactive protein QTL] (2)	CPROTQ	611920	10q23-q24
[C3HEX, ability to smell], 615082 (3)	OR2J3, C3HEXS	615016	6p22.1
[Chitotriosidase deficiency], 614122 (3)	CHIT, CHITD	600031	1q32.1
[Cholesterol level QTL 1] (2)	CLQTL1, CLF	604595	13q
[Cholesterol level QTL 2] (2)	CLQTL2	610760	2p24-p22
[Cinnamon odor, pleasantness of] (2)	CINN	611109	4q32.3
[Colostrum secretion, variation in], 117800 (3)	ABCC11, MRP8, EWWD, WW	607040	16q12.1
[Creatine kinase, brain type, ectopic expression of] (2)	CKBE	123270	14q32
[Dysalbuminemic hyperthyroxinemia], 615999 (3)	ALB, ANALBA, FDAH, FDAHT	103600	4q13.3
[Dystransthyretinemic hyperthyroxinemia], 145680 (3)	TTR, PALB	176300	18q12.1
[Earwax, wet/dry], 117800 (3)	ABCC11, MRP8, EWWD, WW	607040	16q12.1
[Eculizumab, poor response to], 615749 (3)	C5, C5D, ECLZB	120900	9q33.2
[Eosinophil peroxidase deficiency], 261500 (3)	EPX, EPXD	131399	17q22
[Erythrocytosis, familial, 1], 133100 (3)	EPOR	133171	19p13.2
[Ezetimibe, nonresponse to], 617966 (3)	NPC1L1, LDLCQ7	608010	7p13
[Fasting insulin level quantitative trait locus 1] (2)	FIQTL1	606035	6q22-q24
[Fasting plasma glucose level QTL 1] (2)	FGQTL1	612108	2q24-q32
[Fasting plasma glucose level QTL 2] (2)	FGQTL2, BWQTL1	613219	7p15-p13
[Fasting plasma glucose level QTL 3] (2)	FGQTL3	613233	11q21-q22
[Fasting plasma glucose level QTL 4] (2)	FGQTL4	613462	7p21.2
[Fasting plasma glucose level QTL 5], 613463 (3)	GCKR, GKRP, FGQTL5	600842	2p23.3
[Fasting plasma glucose level QTL 6] (2)	FGQTL6, BWQTL3	613460	3q21
[Fetal hemoglobin QTL5] (2)	HBFQTL5	142335	2p16.1
[Fleck retina, familial benign], 228980 (3)	PLA2G5, FRFB	601192	1p36.13
[Fucosyltransferase 6 deficiency], 613852 (3)	FUT6	136836	19p13.3
[Gamma-glutamyltransferase, familial high serum] (2)	GGT2	137181	22q11.21
[Gilbert syndrome], 143500 (3)	UGT1A1, UGT1, GNT1, BILIQTL1	191740	2q37.1
[Glycerol quantitative trait locus], 614411 (3)	AQP7, GLYCQTL	602974	9p13.3
[Glyoxalase II deficiency], 614033 (1)	HAGH, GLO2	138760	16p13.3
[Hair morphology 1, hair thickness], 612630 (3)	EDAR, DL, ED3, EDA3, HRM1, ECTD10A, ECTD10B	604095	2q13
[Handedness] (2)	HSR	139900	2p12-q22
[Hematocrit/hemoglobin quantitative trait locus 1] (2)	HCHGQ1	609319	6q23
[Hematocrit/hemoglobin quantitative trait locus 2] (2)	HCHGQ2	609320	9q
[Hematocrit/hemoglobin quantitative trait locus 3] (2)	HCHGQ3	613284	22q12-q13
[Hemoglobin, high altitude adaptation], 609070 (3)	EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3, HALAH	606425	1q42.2
[Hereditary persistence of alpha-fetoprotein], 615970 (3)	AFP, HPAFP, AFPD	104150	4q13.3
[Hereditary persistence of fetal hemoglobin], 613566 (3)	KLF1, EKLF, INLU, HBFQTL6, CDAN4	600599	19p13.13
[Hex A pseudodeficiency], 272800 (3)	HEXA, TSD	606869	15q23
[High density lipoprotein cholesterol level QTL 10], 143470 (3)	CETP, HDLCQ10	118470	16q13
[High density lipoprotein cholesterol level QTL 11], 238600 (3)	LPL, LIPD, HDLCQ11	609708	8p21.3
[High density lipoprotein cholesterol level QTL 12], 612797 (3)	LIPC, HL, LIPH, HDLCQ12	151670	15q21.3
[High density lipoprotein cholesterol level QTL 1] (2)	HDLCQ1	606613	9p
[High density lipoprotein cholesterol level QTL 2] (2)	HDLCQ2	607053	8q23
[High density lipoprotein cholesterol level QTL 4] (2)	HDLCQ4	610239	4q32.3
[High density lipoprotein cholesterol level QTL 5] (2)	HDLCQ5	610761	3q24-q26
[High density lipoprotein cholesterol level QTL 8] (3)	VNN1, HDLCQ8	603570	6q23.2
[High density lipoprotein cholesterol level QTL 9] (3)	PLTP, HDLCQ9	172425	20q13.12
[High density lipoprotein cholesterol level QTL6], 610762 (3)	SCARB1, CD36L1, CLA1, HDLQTL6	601040	12q24.31
[High molecular weight kininogen deficiency], 228960 (3)	KNG1, KNG, HAE6	612358	3q27.3
[Histidinemia], 235800 (3)	HAL, HSTD	609457	12q23.1
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)	PAH, PKU1	612349	12q23.2
[Hyperproreninemia] (3)	REN, RTD, ADTKD4	179820	1q32.1
[Hypoceruloplasminemia, hereditary], 604290 (3)	CP	117700	3q24-q25.1
[Hypohaptoglobinemia], 614081 (3)	HP	140100	16q22.2
[IMPDH2 enzyme activity, variation in], 617995 (3)	IMPDH2, IMPD2	146691	3p21.31
[IgE, elevated level of], 147050 (3)	IL21R, IMD56	605383	16p12.1
[IgG receptor I, phagocytic, familial deficiency of] (3)	FCGR1A, IGFR1, CD64	146760	1q21.2
[Inosine triphosphatase deficiency], 613850 (3)	ITPA, DEE35	147520	20p13
[Interleukin 6, serum level of, QTL], 614752 (3)	IL6R, IL6RQ, IL6QTL, HIES5	147880	1q21.3
[Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3)	IL6R, IL6RQ, IL6QTL, HIES5	147880	1q21.3
[Junior blood group system], 614490 (3)	ABCG2, BCRP, ABCP, UAQTL1, GOUT1	603756	4q22.1
[Kallikrein, decreased urinary activity of], 615953 (3)	KLK1, KLKR	147910	19q13.33
[Kininogen deficiency], 228960 (3)	KNG1, KNG, HAE6	612358	3q27.3
[LPA deficiency, congenital], 618807 (3)	LPA	152200	6q25.3-q26
[Lactate dehydrogenase-B deficiency], 614128 (3)	LDHB, LDHBD	150100	12p12.1
[Lean body mass QTL 1] (2)	LBMQTL1	612729	8q23
[Leptin serum levels QTL1] (2)	LEPQTL1, LSL	601694	2p21
[Longevity 1] (2)	LGV1	152430	4q25
[Longevity 2] (2)	LGV2	606460	6q21
[Low density lipoprotein cholesterol level QTL 3] (3)	HMGCR, LDLCQ3	142910	5q13.3
[Low density lipoprotein cholesterol level QTL 7], 617966 (3)	NPC1L1, LDLCQ7	608010	7p13
[Low density lipoprotein cholesterol level QTL 8], 618079 (3)	LIMA1, EPLIN, SREBP3, LDLCQ8	608364	12q13.12
[Low density lipoprotein cholesterol level QTL6], 613589 (3)	SORT1, NT3, LDLCQ6	602458	1p13.3
[Malaria, resistance to], 611162 (3)	SLC4A1, AE1, EPB3, SPH4, SAO, CHC	109270	17q21.31
[Maleylacetoacetate isomerase deficiency], 617596 (3)	GSTZ1, MAAI, MAAID	603758	14q24.3
[Mean platelet volume QTL1] (2)	MPVQTL1	612573	12q24.31
[Mean platelet volume QTL2] (2)	MPVQTL2	612574	3p21-p13
[Mean platelet volume QTL3] (2)	MPVQTL3	612575	17q11.2
[Memory, enhanced, QTL], 615602 (3)	WWC1, KIBRA, KIAA0869, MEMRYQTL	610533	5q34
[Musical aptitude QTL 1] (2)	MUSQTL1	612343	4q22
[Obesity, resistance to] (3)	PPARG, PPARG1, PPARG2, CIMT1, GLM1	601487	3p25.2
[Pentosuria], 260800 (3)	DCXR, P34H, PNTSU	608347	17q25.3
[Phenylthiocarbamide tasting], 171200 (3)	TAS2R38, T2R61, PTC, THIOT	607751	7q34
[Placental lactogen deficiency] (1)	CSH1, CSA, PL	150200	17q23.3
[Polyunsaturated fatty acids plasma level QTL1] (2)	PURAQTL1	612795	11q12-q13.1
[Premature chromatid separation trait], 176430 (3)	BUB1B, BUBR1, MVA1	602860	15q15.1
[Protein Z deficiency], 614024 (3)	PROZ, PZ	176895	13q34
[Proteinuria, chronic benign], 618884 (3)	CUBN, IFCR, IGS1	602997	10p13
[QT interval, variation in] (2)	QTV	610141	1q23.3
[Respiratory rhythmicity in sleep] (2)	RRIS	609116	10q26
[Resting heart rate], 607276 (3)	ADRB1, ADRB1R, RHR, FNSS2	109630	10q25.3
[Sarcosinemia], 268900 (3)	SARDH, SARD, SAR	604455	9q34.2
[Sedoheptulokinase deficiency], 617213 (3)	SHPK, CARKL	605060	17p13.2
[Sex hormone-binding globulin circulating level QTL 1] (2)	SXGQTL1	613498	17p13
[Short sleep, familial natural, 1], 612975 (3)	BHLHE41, BHLHB3, DEC2, SHARP1, FNSS1	606200	12p12.1
[Short sleep, familial natural, 2], 618591 (3)	ADRB1, ADRB1R, RHR, FNSS2	109630	10q25.3
[Skeletal muscle glycogen content and metabolism QTL], 619030 (3)	PRKAG3, SMGMQTL	604976	2q35
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)	HERC2, SHEP1, MRT38	605837	15q13.1
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)	OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1	611409	15q12-q13.1
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)	HERC2, SHEP1, MRT38	605837	15q13.1
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)	OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1	611409	15q12-q13.1
[Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)	TPCN2, TPC2, SHEP10	612163	11q13.3
[Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3)	MC1R, SHEP2, CMM5	155555	16q24.3
[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3)	MC1R, SHEP2, CMM5	155555	16q24.3
[Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3)	TYR, SHEP3, CMM8, OCA1A, ATN	606933	11q14.3
[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3)	TYR, SHEP3, CMM8, OCA1A, ATN	606933	11q14.3
[Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3)	SLC24A5, NCKX5, SHEP4, OCA6	609802	15q21.1
[Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)	SLC45A2, MATP, AIM1, SHEP5, OCA4	606202	5p13.2
[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3)	SLC45A2, MATP, AIM1, SHEP5, OCA4	606202	5p13.2
[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)	SLC45A2, MATP, AIM1, SHEP5, OCA4	606202	5p13.2
[Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3)	SLC24A4, NCKX4, SHEP6, AI2A5	609840	14q32.12
[Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3)	SLC24A4, NCKX4, SHEP6, AI2A5	609840	14q32.12
[Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3)	KITLG, MGF, SF, SCF, SHEP7, FPHH, DCUA, DFNA69	184745	12q21.32
[Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3)	ASIP, AGTIL, SHEP9	600201	20q11.22
[Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3)	ASIP, AGTIL, SHEP9	600201	20q11.22
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3)	TYRP1, CAS2, GP75, SHEP11	115501	9p23
[Skin/hair/eye pigmentation, variation in, 8], 611724 (3)	IRF4, LSIRF, SHEP8	601900	6p25.3
[Social cognition] (2)	CGF1	300082	Xq
[Sodium serum level QTL 1], 613508 (3)	TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3	605427	12q24.11
[Sprinting performance], 617749 (3)	ACTN3, ACTN3D	102574	11q13.2
[Statins, attenuated cholesterol lowering by] (3)	HMGCR, LDLCQ3	142910	5q13.3
[Superoxide dismutase, elevated extracellular] (3)	SOD3	185490	4p15.2
[Telomere length, mean leukocyte] (2)	TELM	609113	14q23.2
[Thyroid-stimulating hormone level QTL 1] (2)	TSHQTL1	612306	5q13
[Thyroxine-binding globulin QTL], 300932 (3)	TBG, TBGQTL	314200	Xq22.3
[Transferrin serum level QTL2], 614193 (3)	HFE, HLA-H, HFE1, MVCD7, TFQTL2	613609	6p22.2
[Tuberculin skin test reactivity QTL] (2)	TST2	613637	5p15
[Tuberculin skin test reactivity, absence of] (2)	TST1	613636	11p14
[Urate oxidase deficiency] (1)	UOX	191540	1p22
[Uric acid concentration, serum, QTL1], 138900 (3)	ABCG2, BCRP, ABCP, UAQTL1, GOUT1	603756	4q22.1
[Uric acid concentration, serum, QTL4], 612671 (3)	SLC17A3, NPT4, UAQTL4, GOUT4	611034	6p22.2
[Uric acid concentration, serum, QTL5] (2)	UAQTL5	614746	19q13
[Uric acid concentration, serum, QTL6] (2)	UAQTL6	614747	1q21.1
[Uridine-cytidineuria], 618477 (3)	SLC28A1, CNT1, URCTU	606207	15q25.3
[Visuospatial/perceptual abilities] (2)	VSPA	313000	Xp22.33
[White blood cell count QTL], 611862 (3)	ACKR1, DARC, FY, GPD, WBCQ1	613665	1q23.2
[XG blood group system, Xg(a-) phenotype, 314700 (3)	XGR, XG	314705	Xp22.32
van Buchem disease (4)	VBCH	239100	17q21.31
van Buchem disease, type 2, 607636 (3)	LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4	603506	11q13.2
van der Woude syndrome 1, 119300 (3)	IRF6, VWS1, LPS, PIT, PPS1, OFC6	607199	1q32.2
van der Woude syndrome 2, 606713 (3)	GRHL3, SOM, TFCP2L4, VWS2	608317	1p36.11
von Hippel-Lindau syndrome, 193300 (3)	VHL	608537	3p25.3
von Willebrand disease, platelet-type, 177820 (3)	GP1BA, BSS, BDPLT1, VWDP, BDPLT3	606672	17p13.2
von Willebrand disease, type 1, 193400 (3)	VWF, F8VWF	613160	12p13.31
von Willebrand disease, type 3, 277480 (3)	VWF, F8VWF	613160	12p13.31
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)	VWF, F8VWF	613160	12p13.31
{46XY sex reversal 8, modifier of}, 614279 (3)	AKR1C4, CHDR, CDR, HAKRA, DD4	600451	10p15.1
{?Allergy and asthma susceptibility} (2)	IGES	147061	5q31.1
{?Alzheimer disease, protection against, due to APOE3-Christchurch}, 607822 (3)	APOE, AD2, LPG, LDLCQ5	107741	19q13.32
{?Amyloidosis, secondary, susceptibility to} (1)	APCS, SAP	104770	1q23.2
{?Autism susceptibility 16}, 613410 (3)	SLC9A9, AUTS16	608396	3q24
{?Breast cancer susceptibility}, 114480 (1)	NQO2, NMOR2	160998	6p25.2
{?Colorectal cancer, susceptibility to}, 114500 (3)	PLA2G2A, PLA2B, PLA2L, MOM1	172411	1p36.13
{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)	TRAF3, CD40BP, LAP1, CAP1, CRAF1, IIAE5	601896	14q32.32
{?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 (3)	RHOH, ARHH, TTF	602037	4p14
{?Epidermodysplasia verruciformis, susceptibility to, 5}, 618309 (3)	IL7	146660	8q21.13
{?Erythroleukemia, familial, susceptibility to}, 133180 (3)	ERBB3, LCCS2, FERLK, VSCN1	190151	12q13.2
{?Hearing loss, cisplatin-induced, susceptibility to} (2)	CIHL	613290	6p22.3
{?Hemangioma, capillary infantile, susceptibility to}, 602089 (3)	ANTXR1, TEM8, ATR, GAPO	606410	2p13.3
{?Hepatitis, fulminant viral, susceptibility to}, 618549 (3)	IL18BP, FVH	604113	11q13.4
{?Hypertension, essential} (1)	ACSM3, SAH	145505	16p12.3
{?IgA nephropathy, susceptibility to, 3}, 616818 (3)	SPRY2, IGAN3	602466	13q31.1
{?Macular degeneration, age-related}, 603075 (3)	APOE, AD2, LPG, LDLCQ5	107741	19q13.32
{?Major affective disorder 2} (2)	MAFD2, MDX	309200	Xq28
{?Membranous nephropathy, susceptibility to} (2)	MBNP	614692	6p21.3
{?Obesity, susceptibility to, BMIQ18}, 615457 (3)	MRAP2, C6orf117, BMIQ18	615410	6q14.2
{?Obesity, susceptibility to}, 601665 (3)	CARTPT, CART	602606	5q13.2
{?Pancreatic cancer, susceptibility to, 5}, 618680 (3)	RABL3, PNCA5	618542	3q13.33
{?Parkinson disease 5, susceptibility to}, 613643 (3)	UCHL1, PARK5, SPG79, NDGOA	191342	4p13
{?Schizophrenia susceptibility 18}, 615232 (3)	SLC1A1, EAAC1, SCZD18, DCBXA	133550	9p24.2
{?Schizophrenia, susceptibility to}, 603013 (1)	NRG1, HGL, HRGA, ARIA	142445	8p12
{?Schizophrenia}, 181500 (2)	SCZD2	603342	11q14-q21
{?Thyroid cancer, nonmedullary, 5}, 616535 (3)	HABP2, PHBP, HGFAL, FSAP, NMTC5	603924	10q25.3
{AIDS, delayed/rapid progression to}, 609423 (3)	KIR3DL1, NKAT3, NKB1, AMB11, KIR3DS1	604946	19q13.42
{AIDS, rapid progression to}, 609423 (3)	IFNG, IFG, IFI, IMD69	147570	12q15
{AIDS, resistance to}, 609423 (3)	CXCL12, SDF1	600835	10q11.21
{AIDS, slow progression to}, 609423 (3)	CXCR1, IL8RA	146929	2q35
{AIDS, slow progression to}, 609423 (3)	IL4R, IL4RA	147781	16p12.1
{Abacavir hypersensitivity, susceptibility to} (3)	HLA-B, SPDA1	142830	6p21.33
{Accelerated tumor formation, susceptibility to}, 614401 (3)	MDM2, ACTFS, LSKB	164785	12q15
{Adiponectin, serum level of, QTL2} (2)	ADIPQTL2, CAQ5	606770	5p15.2-p14
{Adiponectin, serum level of, QTL3} (2)	ADIPQTL3, CAQ14	606771	14p11.2-q13
{Adiponectin, serum level of, QTL4} (2)	ADIPQTL4	612629	11q23-q24
{Adrenocortical carcinoma, pediatric}, 202300 (3)	TP53, P53, LFS1 , BCC7, BMFS5	191170	17p13.1
{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)	ADH1B, ADH2	103720	4q23
{Age-related hearing impairment 1} (2)	ARHI1	612448	8q24.13-q24.22
{Age-related hearing impairment 2} (2)	ARHI2	612976	3p26.1-p25.1
{Albinism, oculocutaneous, type II, modifier of}, 203200 (3)	MC1R, SHEP2, CMM5	155555	16q24.3
{Alcohol dependence, protection against}, 103780 (3)	ADH1B, ADH2	103720	4q23
{Alcohol dependence, protection against}, 103780 (3)	ADH1C, ADH3	103730	4q23
{Alcohol dependence, susceptibility to}, 103780 (3)	GABRA2, DEE78	137140	4p12
{Alcohol dependence, susceptibility to}, 103780 (3)	HTR2A	182135	13q14.2
{Alkaline phosphatase, plasma level of, QTL 2} (2)	ALPQTL2	612367	1p36
{Alkaline phosphatase, plasma level of, QTL1} (2)	ALPQTL1	171720	9q34.13
{Alkaline phosphatase, plasma level of, QTL3} (2)	ALPQTL3	612368	6p22
{Alkaline phosphatase, plasma level of, QTL4} (2)	ALPQTL4	612369	10q21
{Allergic rhinitis, susceptibility to}, 607154 (3)	IL13, ALRH, BHR1	147683	5q31.1
{Alzheimer disease 12} (2)	AD12	611073	8p12-q22
{Alzheimer disease 16} (2)	AD16	300756	Xq21.3
{Alzheimer disease 18, susceptibility to}, 615590 (3)	ADAM10, MADM, RAK, AD18	602192	15q21.3
{Alzheimer disease 9, susceptibility to}, 608907 (3)	ABCA7, ABCX, AD9	605414	19p13.3
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)	NOS3	163729	7q36.1
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)	PLAU, URK, QPD, BDPLT5	191840	10q22.2
{Alzheimer disease, susceptibility to}, 104300 (3)	HFE, HLA-H, HFE1, MVCD7, TFQTL2	613609	6p22.2
{Alzheimer disease, susceptibility to}, 104300 (3)	MPO	606989	17q22
{Alzheimer disease-13} (2)	AD13	611152	1q21
{Alzheimer disease-14} (2)	AD14	611154	1q25
{Alzheimer disease-15} (2)	AD15	611155	3q22-q24
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)	ATXN2, ATX2, SCA2, ASL13	601517	12q24.12
{Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3)	NEK1, SRTD6, SRPS2A, ALS24	604588	4q33
{Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921 (3)	KIF5A, NKHC, SPG10, NEIMY, ALS25	602821	12q13.3
{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	DCTN1, HMN7B	601143	2p13.1
{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	PRPH	170710	12q13.12
{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)	TRPM7, LTRPC7, CHAK, ALSPDC	605692	15q21.2
{Aneurysm, familial abdominal 3} (2)	AAA3	611891	9p21
{Aneurysm, intracranial berry, 10} (2)	ANIB10	612587	8q12.1
{Aneurysm, intracranial berry, 6} (2)	ANIB6	611892	9p21
{Aneurysm, intracranial berry, 9} (2)	ANIB9	612586	2q33.1
{Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3)	XPNPEP2, AEACEI	300145	Xq26.1
{Anorexia nervosa, susceptibility to, 1} (2)	ANON1	606788	1p
{Anorexia nervosa, susceptibility to}, 606788 (3)	HTR2A	182135	13q14.2
{Antisocial behavior}, 300615 (3)	MAOA, BRNRS	309850	Xp11.3
{Anxiety-related personality traits}, 607834 (3)	SLC6A4, HTT, OCD1	182138	17q11.2
{Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)	FOXE3, FKHL12, ASMD, CTRCT34, ASGD2, AAT11	601094	1p33
{Aplastic anemia, susceptibility to}, 609135 (3)	SBDS, SDS	607444	7q11.21
{Aplastic anemia}, 609135 (3)	IFNG, IFG, IFI, IMD69	147570	12q15
{Aplastic anemia}, 614743 (3)	TERC, TRC3, TR, DKCA1, PFBMFT2	602322	3q26.2
{Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}, 617936 (3)	BCHE, CHE1, BCHED	177400	3q26.1
{Asperger syndrome susceptibility 1} (2)	ASPG1	608638	3q25-q27
{Asperger syndrome susceptibility 2} (2)	ASPG2	608631	17p13
{Asperger syndrome susceptibility 3} (2)	ASPG3	608781	1q21-q22
{Asperger syndrome susceptibility 4} (2)	ASPG4	609954	3p24-p21
{Asperger syndrome susceptibility, X-linked 1}, 300494 (3)	NLGN3, ASPGX1, AUTSX1	300336	Xq13.1
{Asperger syndrome susceptibility, X-linked 2}, 300497 (3)	NLGN4, KIAA1260, AUTSX2, ASPGX2	300427	Xp22.32-p22.31
{Aspergillosis, susceptibility to}, 614079 (3)	CLEC1A, CLEC1	606782	12p13.2
{Aspergillosis, susceptibility to}, 614079 (3)	CLEC7A, CLECSF12, DECTIN1, CANDF4	606264	12p13.2
{Asthma susceptibility 5}, 611064 (3)	IRAK3, IRAKM, ASRT5	604459	12q14.3
{Asthma, aspirin-induced, susceptibility to}, 208550 (3)	PTGER2	176804	14q22.1
{Asthma, aspirin-induced, susceptibility to}, 208550 (3)	TBX21, TBET, IMD88	604895	17q21.32
{Asthma, diminished response to antileukotriene treatment in}, 600807 (3)	ALOX5	152390	10q11.21
{Asthma, nocturnal, susceptibility to}, 600807 (3)	ADRB2	109690	5q32
{Asthma, protection against}, 600807 (3)	MUC7	158375	4q13.3
{Asthma, susceptibility to, 1}, 607277 (3)	PTGDR, AS1, ASRT1	604687	14q22.1
{Asthma, susceptibility to, 2}, 608584 (3)	NPSR1, GPR154, GPRA, VRR1, PGR14, ASRT2	608595	7p14.3
{Asthma, susceptibility to}, 600807 (2)	HLA-G	142871	6p22.1
{Asthma, susceptibility to}, 600807 (3)	CCL11, SCYA11	601156	17q12
{Asthma, susceptibility to}, 600807 (3)	HNMT, MRT51	605238	2q22.1
{Asthma, susceptibility to}, 600807 (3)	IL13, ALRH, BHR1	147683	5q31.1
{Asthma, susceptibility to}, 600807 (3)	PLA2G7, PAFAH, PAFAD	601690	6p12.3
{Asthma, susceptibility to}, 600807 (3)	SCGB3A2, UGRP1	606531	5q32
{Asthma, susceptibility to}, 600807 (3)	TNF, TNFA	191160	6p21.33
{Asthma-related traits, susceptibility to, 3} (2)	ASRT3	609958	2p16
{Asthma-related traits, susceptibility to, 4} (2)	ASRT4	610906	1p31
{Asthma-related traits, susceptibility to, 6} (2)	ASRT6	611403	17q21
{Asthma-related traits, susceptibility to, 7}, 611960 (3)	CHI3L1, GP39, YKL40, ASRT7	601525	1q32.1
{Asthma-related traits, susceptibility to, 8} (2)	ASRT8	613207	9q33
{Atherosclerosis, susceptibility to} (2)	ATHS, ALP	108725	19p13.3-p13.2
{Atherosclerosis, susceptibility to} (3)	ALOX5	152390	10q11.21
{Atopy, susceptibility to}, 147050 (3)	IL4R, IL4RA	147781	16p12.1
{Atopy, susceptibility to}, 147050 (3)	MS4A2, FCER1B	147138	11q12.1
{Atopy, susceptibility to}, 147050 (3)	PLA2G7, PAFAH, PAFAD	601690	6p12.3
{Atrial fibrillation, familial, 5} (2)	ATFB5	611494	4q25
{Atrioventricular septal defect, susceptibility to, 1} (2)	AVSD1, AVCD	606215	1p31-p21
{Atrioventricular septal defect, susceptibility to, 2}, 606217 (3)	CRELD1, AVSD2	607170	3p25.3
{Attention deficit-hyperactivity disorder, susceptibility to, 5} (2)	ADHD5	612311	2q21.1
{Attention deficit-hyperactivity disorder, susceptibility to, 6} (2)	ADHD6	612312	13q12.11
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)	TPH2, NTPH, ADHD7	607478	12q21.1
{Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)	DRD5, DRD1B, DRD1L2	126453	4p16.1
{Attention deficit-hyperactivity disorder}, 143465 (2)	ADHD1	608903	16p13
{Attention deficit-hyperactivity disorder}, 143465 (2)	ADHD2	608904	17p11
{Attention deficit-hyperactivity disorder}, 143465 (2)	ADHD3	608905	6q12
{Attention deficit-hyperactivity disorder}, 143465 (2)	ADHD4	608906	5p13
{Attention deficit-hyperactivity disorder}, 143465 (3)	DRD4	126452	11p15.5
{Autism susceptibility 11} (2)	AUTS11	610836	1q41-q42
{Autism susceptibility 12} (2)	AUTS12	610838	21p13-q11
{Autism susceptibility 13} (2)	AUTS13	610908	12q14.2
{Autism susceptibility 14A} (2)	DEL16p11.2, C16DELp11.2, AUTS14A	611913	16p11.2
{Autism susceptibility 15}, 612100 (3)	CNTNAP2, CASPR2, NRXN4, AUTS15, PTHSL1	604569	7q35-q36.1
{Autism susceptibility 17}, 613436 (3)	SHANK2, CORTBP1, AUTS17	603290	11q13.3-q13.4
{Autism susceptibility 1} (2)	AUTS1	209850	7q22
{Autism susceptibility 3} (2)	AUTS3	608049	13q14.2-q14.1
{Autism susceptibility 4} (2)	AUTS4	608636	15q11
{Autism susceptibility 6} (2)	AUTS6	609378	17q11
{Autism susceptibility 7} (2)	AUTS7	610676	17q21
{Autism susceptibility 8} (2)	AUTS8	607373	3q25-q27
{Autism susceptibility, X-linked 1}, 300425 (3)	NLGN3, ASPGX1, AUTSX1	300336	Xq13.1
{Autism susceptibility, X-linked 2}, 300495 (3)	NLGN4, KIAA1260, AUTSX2, ASPGX2	300427	Xp22.32-p22.31
{Autism susceptibility, X-linked 3, 300496 (3)	MECP2, RTT, PPMX, AUTSX3, MRXSL, MRXS13	300005	Xq28
{Autism, susceptibility to, 10} (2)	AUTS10	611016	7q36
{Autism, susceptibility to, 14B} (2)	DUP16p11.2, C16DUPp11.2, AUTS14B	614671	16p11.2
{Autism, susceptibility to, 18}, 615032 (3)	CHD8, DUPLIN, KIAA1564, AUTS18	610528	14q11.2
{Autism, susceptibility to, 19}, 615091 (3)	EIF4E, EIF4EL1, AUTS19	133440	4q23
{Autism, susceptibility to, 20}, 618830 (3)	NLGN1	600568	3q26.31
{Autism, susceptibility to, 9} (2)	AUTS9	611015	7q31
{Autism, susceptibility to, X-linked 4}, 300830 (3)	PTCHD1, AUTSX4	300828	Xp22.11
{Autism, susceptibility to, X-linked 5}, 300847 (3)	RPL10, DXS648, QM, AUTSX5, MRXS35	312173	Xq28
{Autism, susceptibility to, X-linked 6}, 300872 (3)	TMLHE, BBOX2, TMLH, TMLHED, AUTSX6	300777	Xq28
{Autoimmune disease, susceptibility to, 1}, 607836 (3)	FOXD3, AIS1, VAMAS2	611539	1p31.3
{Autoimmune disease, susceptibility to, 2} (2)	AIS2, VAMAS3	608391	Chr.7
{Autoimmune disease, susceptibility to, 3} (2)	AIS3, VAMAS4	608392	Chr.8
{Autoimmune disease, susceptibility to, 4} (2)	AIS4, VAMAS5	609400	4q13-q21
{Autoimmune disease, susceptibility to, 5} (2)	CELIAC6, AIS5	611598	4q27
{Autoimmune disease, susceptibility to, 6}, 613551 (3)	SIAE, AIS6	610079	11q24.2
{Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3)	COPA, AILJK	601924	1q23.2
{Autoimmune lymphoproliferative syndrome}, 601859 (3)	FAS, TNFRSF6, APT1, CD95, ALPS1A	134637	10q23.31
{Autoimmune thyroid disease, susceptibility to, 1} (2)	AITD1	608173	6p11
{Autoimmune thyroid disease, susceptibility to, 2} (2)	AITD2	608174	5q31-q33
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)	TG, AITD3, TDH3	188450	8q24.22
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)	ZFAT1, ZNF406, AITD3	610931	8q24.22
{Autoimmune thyroid disease, susceptibility to, 4} (2)	AITD4	608176	10q
{Bacteremia, protection against}, 614382 (3)	TIRAP, BACTS1	606252	11q24.2
{Bacteremia, susceptibility to}, 614383 (3)	CISH, BACTS2	602441	3p21.2
{Bardet-Biedl syndrome 1, modifier of}, 209900 (3)	ARL6, BBS3, RP55	608845	3q11.2
{Bardet-Biedl syndrome 1, modifier of}, 209900 (3)	CCDC28B, MGC1203	610162	1p35.2
{Bardet-Biedl syndrome 14, modifier of}, 615991 (3)	TMEM67, MKS3, JBTS6, NPHP11	609884	8q22.1
{Basal cell carcinoma 7}, 614740 (3)	TP53, P53, LFS1 , BCC7, BMFS5	191170	17p13.1
{Basal cell carcinoma, susceptibility to, 1} (2)	BCC1	605462	1p36
{Basal cell carcinoma, susceptibility to, 2} (2)	BCC2	613058	1q42
{Basal cell carcinoma, susceptibility to, 3} (2)	BCC3	613059	5p15.33
{Basal cell carcinoma, susceptibility to, 4} (2)	BCC4	613061	12q13
{Basal cell carcinoma, susceptibility to, 5} (2)	BCC5	613062	9p21
{Basal cell carcinoma, susceptibility to, 6} (2)	BCC6	613063	7q32
{Benzene toxicity, susceptibility to} (3)	NQO1, DIA4, NMOR1	125860	16q22.1
{Beryllium disease, chronic, susceptibility to} (3)	HLA-DPB1	142858	6p21.32
{Biliary cirrhosis, primary, 2} (2)	PBC2	613007	6p21.3
{Biliary cirrhosis, primary, 3} (2)	PBC3	613008	1p31.2
{Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)	TBXA2R, BDPLT13	188070	19p13.3
{Blepharospasm, primary benign}, 606798 (3)	DRD5, DRD1B, DRD1L2	126453	4p16.1
{Bone mineral density QTL 12, osteoporosis}, 612560 (3)	UGT2B17, BMND12	601903	4q13.2
{Bone mineral density variation QTL, osteoporosis}, 166710 (3)	COL1A1, OI1, OI2, OI3, OI4, EDSARTH1, CAFYD	120150	17q21.33
{Bone mineral density, low, susceptibility to}, 615311 (3)	LGR4, GPR48, BNMD17, DPSL	606666	11p14.1
{Bone size QTL} (2)	BSZQTL	609656	17q23
{Bone size QTL} (2)	BSZQTL2	609657	5q
{Breast cancer, early-onset, susceptibility to}, 114480 (3)	BRIP1, BACH1, FANCJ	605882	17q23.2
{Breast cancer, invasive ductal}, 114480 (3)	RAD54L, HR54, HRAD54	603615	1p34.1
{Breast cancer, male, susceptibility to}, 114480 (3)	BRCA2, FANCD1, BROVCA2, GLM3, PNCA2	600185	13q13.1
{Breast cancer, poor survival after chemotherapy for} (3)	NQO1, DIA4, NMOR1	125860	16q22.1
{Breast cancer, protection against}, 114480 (3)	CASP8, MCH5, ALPS2B	601763	2q33.1
{Breast cancer, susceptibility to}, 114480 (3)	ATM, ATA, AT1	607585	11q22.3
{Breast cancer, susceptibility to}, 114480 (3)	BARD1	601593	2q35
{Breast cancer, susceptibility to}, 114480 (3)	CHEK2, RAD53, CHK2, CDS1, LFS2	604373	22q12.1
{Breast cancer, susceptibility to}, 114480 (3)	HMMR	600936	5q34
{Breast cancer, susceptibility to}, 114480 (3)	PALB2, FANCN, PNCA3	610355	16p12.2
{Breast cancer, susceptibility to}, 114480 (3)	PHB1	176705	17q21.33
{Breast cancer, susceptibility to}, 114480 (3)	RAD51, RECA, MRMV2, FANCR	179617	15q15.1
{Breast cancer, susceptibility to}, 114480 (3)	XRCC3, CMM6	600675	14q32.33
{Breast-ovarian cancer, familial, 1}, 604370 (3)	BRCA1, PSCP, BROVCA1, PNCA4, FANCS	113705	17q21.31
{Breast-ovarian cancer, familial, 2}, 612555 (3)	BRCA2, FANCD1, BROVCA2, GLM3, PNCA2	600185	13q13.1
{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3)	RAD51C, FANCO, BROVCA3	602774	17q22
{Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)	RAD51D, RAD51L3, BROVCA4	602954	17q12
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)	CFTR, ABCC7, CF, MRP7	602421	7q31.2
{Budd-Chiari syndrome, somatic}, 600880 (3)	JAK2, THCYT3	147796	9p24.1
{Budd-Chiari syndrome}, 600880 (3)	F5, THPH2, RPRGL1	612309	1q24.2
{Bulimia nervosa, susceptibility to} (2)	BULN	607499	10p
{Buruli ulcer, susceptibility to}, 610446 (3)	NRAMP1, NRAMP, SLC11A1	600266	2q35
{Cancer progression/metastasis} (3)	FGFR4	134935	5q35.2
{Cataract 28, age-related cortical, susceptibility to} (2)	CTRCT28, ARCC1	609026	6p12-q12
{Celiac disease, susceptibility to, 10} (2)	CELIAC10	612008	3q25-q26
{Celiac disease, susceptibility to, 11} (2)	CELIAC11	612009	3q28
{Celiac disease, susceptibility to, 12} (2)	CELIAC12	612010	6q25.3
{Celiac disease, susceptibility to, 13} (2)	CELIAC13	612011	12q24
{Celiac disease, susceptibility to, 2} (2)	CELIAC2	609754	5q31-q33
{Celiac disease, susceptibility to, 3}, 609755 (3)	CTLA4, IDDM12, CELIAC3, ALPS5	123890	2q33.2
{Celiac disease, susceptibility to, 4}, 609753 (3)	MYO9B, MYR5, CELIAC4	602129	19p13.11
{Celiac disease, susceptibility to, 5} (2)	CELIAC5, GSES	607202	15q11-q13
{Celiac disease, susceptibility to, 6} (2)	CELIAC6, AIS5	611598	4q27
{Celiac disease, susceptibility to, 7} (2)	CELIAC7	612005	1q31
{Celiac disease, susceptibility to, 8} (2)	CELIAC8	612006	2q11-q12
{Celiac disease, susceptibility to, 9} (2)	CELIAC9	612007	3p21
{Celiac disease, susceptibility to}, 212750 (3)	HLA-DQA1, CELIAC1	146880	6p21.32
{Celiac disease, susceptibility to}, 212750 (3)	HLA-DQB1, CELIAC1	604305	6p21.32
{Centronuclear myopathy, autosomal, modifier of}, 160150 (3)	MTMR14, C3orf29, HJUMPY	611089	3p25.3
{Cerebral infarction, susceptibility to}, 601367 (3)	PRKCH, PKCL, PRKCL	605437	14q23.1
{Chordoma, susceptibility to} (4)	CHDM	215400	6q27
{Choroid plexus papilloma}, 260500 (3)	TP53, P53, LFS1 , BCC7, BMFS5	191170	17p13.1
{Chronic infections, due to MBL deficiency}, 614372 (3)	MBL2, MBL, MBP1, MBL2D, MBPD	154545	10q21.1
{Chronic mountain sickness, susceptibility to} (2)	CMTS	616182	12q13
{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	KRT18	148070	12q13.13
{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	KRT8	148060	12q13.13
{Codeine sensitivity}, 608902 (3)	CYP2D6, CPD6, P450DB1	124030	22q13.2
{Colchicine resistance}, 120080 (3)	ABCB1, PGY1, MDR1, IBD13, CLCs	171050	7q21.12
{Colon cancer, susceptibility to}, 114500 (3)	AURKA, STK15, AURORA2, BTAK, ARK1, STK6, AIK	603072	20q13.2
{Colorectal cancer, susceptibility to, 10}, 612591 (3)	POLD1, CRCS10, MDPL	174761	19q13.33
{Colorectal cancer, susceptibility to, 11} (2)	CRCS11	612592	20p12.3
{Colorectal cancer, susceptibility to, 12}, 615083 (3)	POLE, CRCS12, FILS, IMAGEI	174762	12q24.33
{Colorectal cancer, susceptibility to, 1}, 608812 (3)	GALNT12, CRCS1	610290	9q22.33
{Colorectal cancer, susceptibility to, 2} (2)	CRCS2	611469	8q24
{Colorectal cancer, susceptibility to, 3}, 612229 (3)	SMAD7, MADH7, CRCS3	602932	18q21.1
{Colorectal cancer, susceptibility to, 4} (4)	HMPS1, CRAC1, CRCS4, DUP15q, C15DUPq	601228	15q15.3-q22.1
{Colorectal cancer, susceptibility to, 5} (2)	CRCS5	612230	10p14
{Colorectal cancer, susceptibility to, 6} (2)	CRCS6	612231	8q23
{Colorectal cancer, susceptibility to, 7} (2)	CRCS7	612232	11q23
{Colorectal cancer, susceptibility to, 8} (2)	CRCS8	612589	14q22.2
{Colorectal cancer, susceptibility to, 9} (2)	CRCS9	612590	16q22.1
{Colorectal cancer, susceptibility to}, 114500 (3)	CCND1, PRAD1, BCL1	168461	11q13.3
{Colorectal cancer, susceptibility to}, 114500 (3)	CHEK2, RAD53, CHK2, CDS1, LFS2	604373	22q12.1
{Colorectal cancer, susceptibility to}, 114500 (3)	TLR2, TIL4	603028	4q31.3
{Colorectal cancer}, 114500 (3)	TP53, P53, LFS1 , BCC7, BMFS5	191170	17p13.1
{Congestive heart failure and beta-blocker response, modifier of} (3)	ADRA2C, ADRA2L2	104250	4p16.3
{Coronary artery disease, autosomal dominant, 1}, 608320 (3)	MEF2A, ADCAD1	600660	15q26.3
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)	LRP6, ADCAD2, STHAG7	603507	12p13.2
{Coronary artery disease, modifier of} (3)	CCL2, SCYA2, MCP1, MCAF	158105	17q12
{Coronary artery disease, resistance to}, 607339 (3)	CX3CR1, GPR13, V28	601470	3p22.2
{Coronary artery disease, severe, susceptibility to}, 617347 (3)	APOE, AD2, LPG, LDLCQ5	107741	19q13.32
{Coronary artery disease, susceptibility to} (3)	IRS1	147545	2q36.3
{Coronary artery disease, susceptibility to} (3)	PON1, PON, ESA, MVCD5	168820	7q21.3
{Coronary artery disease, susceptibility to} (3)	PON2	602447	7q21.3
{Coronary artery disease, susceptibility to}, 618807 (3)	LPA	152200	6q25.3-q26
{Coronary artery spasm 1, susceptibility to} (3)	NOS3	163729	7q36.1
{Coronary artery spasm 2, susceptibility to (3)	PON1, PON, ESA, MVCD5	168820	7q21.3
{Coronary heart disease, susceptibility to, 2} (2)	CHDS2	608316	2q21.1-q22
{Coronary heart disease, susceptibility to, 3} (2)	CHDS3	300464	Xq23-q26
{Coronary heart disease, susceptibility to, 4} (2)	CHDS4	608318	14q32
{Coronary heart disease, susceptibility to, 5} (2)	CHDS5	608901	3q13
{Coronary heart disease, susceptibility to, 6}, 614466 (3)	MMP3, STMY1, CHDS6	185250	11q22.2
{Coronary heart disease, susceptibility to, 7}, 610938 (3)	CD36, CHDS7, BDPLT10	173510	7q21.11
{Coronary heart disease, susceptibility to, 8} (2)	CHDS8	611139	9p21
{Coronary heart disease, susceptibility to, 9} (2)	CHDS9	612030	8p22
{Coronary heart disease, susceptibility to} (2)	CHDS1	607339	16pter-p13
{Craniosynostosis 5, susceptibility to}, 615529 (3)	ALX4, PFM2, FPP, FND2, CRS5	605420	11p11.2
{Craniosynostosis 7, susceptibility to}, 617439 (3)	SMAD6, MADH6, AOVD2	602931	15q22.31
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)	HLA-DQB1, CELIAC1	604305	6p21.32
{Crohn disease-associated growth failure}, 266600 (3)	IL6, IFNB2, BSF2, HSF, HGF	147620	7p15.3
{Cystic fibrosis lung disease, modifier of}, 219700 (3)	TGFB1, DPD1, CED, IBDIMDE	190180	19q13.2
{Deafness, autosomal recessive 12, modifier of}, 601386 (3)	ATP2B2, PMCA2, DFNA82	108733	3p25.3
{Deafness, mitochondrial, modifier of}, 580000 (3)	TRMU, MTO2	610230	22q13.31
{Deafness, nonsyndromic, modifier 1} (2)	DFNM1	605429	1q24
{Debrisoquine sensitivity}, 608902 (3)	CYP2D6, CPD6, P450DB1	124030	22q13.2
{Deep venous thrombosis, protection against}, 300807 (3)	F9, HEMB, THPH8	300746	Xq27.1
{Delayed sleep phase disorder, susceptibility to}, 614163 (3)	CRY1, PHLL1, DSPD	601933	12q23.3
{Delayed sleep phase syndrome, susceptibility to} (2)	DSPS	614163	17q25
{Dementia, vascular, susceptibility to} (3)	TNF, TNFA	191160	6p21.33
{Dengue fever, protection against}, 614371 (3)	CD209, CDSIGN	604672	19p13.2
{Dermatitis, atopic, susceptibility to, 1} (2)	ATOD1	603165	3q21
{Dermatitis, atopic, susceptibility to, 2}, 605803 (3)	FLG, ATOD2	135940	1q21.3
{Dermatitis, atopic, susceptibility to, 3} (2)	ATOD3	605804	20p
{Dermatitis, atopic, susceptibility to, 4} (2)	ATOD4	605805	17q25.3
{Dermatitis, atopic, susceptibility to, 5} (2)	ATOD5	605844	13q12-q14
{Dermatitis, atopic, susceptibility to, 6} (2)	ATOD6	605845	5q31-q33
{Dermatitis, atopic, susceptibility to, 7} (2)	ATOD7	613064	11q13.5
{Dermatitis, atopic, susceptibility to, 8} (2)	ATOD8	613518	4q22.1
{Dermatitis, atopic, susceptibility to, 9} (2)	ATOD9	613519	3p24
{Diabetes mellitus, insulin-dependent, 11} (2)	IDDM11	601208	14q24.3-q31
{Diabetes mellitus, insulin-dependent, 12}, 601388 (3)	CTLA4, IDDM12, CELIAC3, ALPS5	123890	2q33.2
{Diabetes mellitus, insulin-dependent, 13} (2)	IDDM13	601318	2q34
{Diabetes mellitus, insulin-dependent, 15} (2)	IDDM15	601666	6q21
{Diabetes mellitus, insulin-dependent, 17} (2)	IDDM17	603266	10q25
{Diabetes mellitus, insulin-dependent, 18} (2)	IDDM18	605598	5q31.1-q33.1
{Diabetes mellitus, insulin-dependent, 19} (2)	IDDM19	610155	2q24.3
{Diabetes mellitus, insulin-dependent, 21} (2)	IDDM21	612521	6q25
{Diabetes mellitus, insulin-dependent, 22}, 612522 (3)	CCR5, CMKBR5, CCCKR5, IDDM22	601373	3p21.31
{Diabetes mellitus, insulin-dependent, 23} (2)	IDDM23	612622	4q27
{Diabetes mellitus, insulin-dependent, 24} (2)	IDDM24	613006	10q23.31
{Diabetes mellitus, insulin-dependent, 3} (2)	IDDM3	600318	15q26
{Diabetes mellitus, insulin-dependent, 4} (2)	IDDM4	600319	11q13
{Diabetes mellitus, insulin-dependent, 5}, 600320 (3)	SUMO4, IDDM5	608829	6q25.1
{Diabetes mellitus, insulin-dependent, 6} (2)	IDDM6	601941	18q21
{Diabetes mellitus, insulin-dependent, 7} (2)	IDDM7	600321	2q31
{Diabetes mellitus, insulin-dependent, 8} (2)	IDDM8	600883	6q25-q27
{Diabetes mellitus, insulin-dependent, X-linked} (2)	IDDMX	300136	Xp11
{Diabetes mellitus, insulin-dependent-1} (2)	IDDM1	222100	6p21.3
{Diabetes mellitus, insulin-dependent}, 222100 (3)	HNF1A, TCF1, MODY3, IDDM20	142410	12q24.31
{Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3)	PAX4, MODY9, KPD	167413	7q32.1
{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3)	ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED	173335	6q23.2
{Diabetes mellitus, noninsulin-dependent 1}, 601283 (3)	CAPN10, NIDDM1	605286	2q37.3
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)	HNF1A, TCF1, MODY3, IDDM20	142410	12q24.31
{Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)	TBC1D4, AS160, KIAA0603, NIDDM5	612465	13q22.2
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)	WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41	606201	4p16.1
{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)	IGF2BP2, IMP2	608289	3q27.2
{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)	RETN, RSTN, FIZZ3	605565	19p13.2
{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)	SLC30A8, ZNT8	611145	8q24.11
{Diabetes mellitus, noninsulin-dependent}, 125853 (2)	NIDDM4	608036	5q34-q35.2
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)	HNF4A, TCF14, MODY1, FRTS4	600281	20q13.12
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)	IRS2	600797	13q34
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)	LIPC, HL, LIPH, HDLCQ12	151670	15q21.3
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)	MAPK8IP1, IB1	604641	11p11.2
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)	SLC2A2, GLUT2	138160	3q26.2
{Diabetes mellitus, transient neonatal 1}, 601410 (4)	TNDM1	601410	6q24
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)	KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13, PNDM2	600937	11p15.1
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)	MTNR1B	600804	11q14.3
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)	TCF7L2, TCF4	602228	10q25.2-q25.3
{Diabetes mellitus, type II, susceptibility to}, 125853 (3)	PDX1, IPF1, MODY4, PAGEN1	600733	13q12.2
{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3)	IL2RA, CD25, IL2R, IDDM10, IMD41	147730	10p15.1
{Diabetes, type 1, susceptibility to}, 222100 (2)	ITPR3	147267	6p21.31
{Diabetes, type 1, susceptibility to}, 222100 (3)	PTPN22, PEP, PTPN8, LYP	600716	1p13.2
{Diabetes, type 2}, 125853 (3)	PPARG, PPARG1, PPARG2, CIMT1, GLM1	601487	3p25.2
{Diphtheria, susceptibility to} (1)	HBEGF, DTR, DTSF, HEGFL	126150	5q31.3
{Drug addiction, susceptibility to}, 606581 (3)	FAAH	602935	1p33
{Drug metabolism, altered, CYP2C8-related}, 618018 (3)	CYP2C8, CYP2C8DM	601129	10q23.33
{Drug-induced liver injury due to flucloxacillin} (3)	HLA-B, SPDA1	142830	6p21.33
{Dyslexia, susceptibility to, 1}, 127700 (3)	DNAAF4, DYX1C1, DYXC1, DYX1, CILD25	608706	15q21.3
{Dyslexia, susceptibility to, 2} (2)	DYX2	600202	6p22-p21
{Dyslexia, susceptibility to, 3} (2)	DYX3	604254	2p16-p15
{Dyslexia, susceptibility to, 5} (2)	DYX5	606896	3p12-q13
{Dyslexia, susceptibility to, 6} (2)	DYX6, DYXQTL18	606616	18p11.2
{Dyslexia, susceptibility to, 8} (2)	DYX8	608995	1p36-p34
{Dyslexia, susceptibility to, 9} (2)	DYX9	300509	Xq27.3
{Dystonia-1, modifier of} (3)	TOR1A, DYT1, AMC5	605204	9q34.11
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)	CYP2B6, CYP2B, EFVM	123930	19q13.2
{Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, 619441 (3)	DBR1	607024	3q22.3
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10}, 619396 (3)	SNORA31, IIAE10	619378	13q14.13
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)	UNC93B1, IIAE1	608204	11q13.2
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)	TICAM1, TRIF, IIAE6	607601	19p13.3
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3)	IRF3, IIAE7	603734	19q13.33
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3)	TBK1, NAK, FTDALS4, IIAE8	604834	12q14.2
{Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3)	RANBP2, NUP358, ANE1, IIAE3	601181	2q13
{Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)	CPT2, IIAE4	600650	1p32.3
{Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426 (3)	NUP214, D9S46E, CAN, CAIN, IIAE9	114350	9q34.13
{End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)	APOL1, FSGS4	603743	22q12.3
{Endometrial cancer, familial}, 608089 (3)	MSH6, GTBP, HNPCC5, MMRCS3	600678	2p16.3
{Endometrial cancer, susceptibility to}, 608089 (3)	MLH3, HNPCC7	604395	14q24.3
{Endometriosis, susceptibility to, 1} (2)	ENDO1	131200	10q26
{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)	MMP1, CLG	120353	11q22.2
{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)	CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1	601199	3q13.33-q21.1
{Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3)	GABRA1, EJM5, ECA4, DEE19	137160	5q34
{Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3)	GABRB3, ECA5, DEE43	137192	15q12
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)	CACNA1H, EIG6, ECA6, HALD4	607904	16p13.3
{Epilepsy, familial temporal lobe, 7}, 616436 (3)	RELN, RL, LIS2, ETL7	600514	7q22.1
{Epilepsy, idiopathic generalized, 10}, 613060 (3)	GABRD, GEFSP5, EIG10, EJM7	137163	1p36.33
{Epilepsy, idiopathic generalized, susceptibility to 4} (2)	EIG4	609750	10q25-q26
{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3)	CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT, HALD2	600570	3q27.1
{Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3)	SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN	138140	1p34.2
{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3)	SLC12A5, KCC2, KIAA1176, DEE34, EIG14	606726	20q13.12
{Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 (3)	RORB, RZRB, EIG15	601972	9q21.13
{Epilepsy, idiopathic generalized, susceptibility to, 16}, 618596 (3)	KCNMA1, SLO, PNKD3, CADEDS, IEG16, LIWAS	600150	10q22.3
{Epilepsy, idiopathic generalized, susceptibility to, 17}, 602477 (3)	HCN2, BCNG2, GEFSP11, FEB2, EIG17	602781	19p13.3
{Epilepsy, idiopathic generalized, susceptibility to, 18}, 619521 (3)	HCN4, SSS2, BRGDA8, EIG18	605206	15q24.1
{Epilepsy, idiopathic generalized, susceptibility to, 1} (2)	EIG1	600669	8q24
{Epilepsy, idiopathic generalized, susceptibility to, 2} (2)	EIG2	606972	14q23
{Epilepsy, idiopathic generalized, susceptibility to, 3} (2)	EIG3	608762	9q32-q33
{Epilepsy, idiopathic generalized, susceptibility to, 5} (2)	EIG5	611934	10p11.22
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)	CACNA1H, EIG6, ECA6, HALD4	607904	16p13.3
{Epilepsy, idiopathic generalized, susceptibility to, 7} (2)	EIG7, EJM2	604827	15q14
{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3)	CACNB4, EJM6, EA5, EIG9	601949	2q23.3
{Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3)	EFHC1, FLJ10466, EJM1, JAE, EJA1	608815	6p12.2
{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3)	CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT, HALD2	600570	3q27.1
{Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3)	ICK, MRK, KIAA0936, ECO, EJM10	612325	6p12.1
{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3)	GABRA1, EJM5, ECA4, DEE19	137160	5q34
{Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3)	CACNB4, EJM6, EA5, EIG9	601949	2q23.3
{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3)	CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT, HALD2	600570	3q27.1
{Epilepsy, juvenile myoclonic, susceptibility to, 9} (2)	EJM9	614280	2q33-q36
{Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3)	GABRD, GEFSP5, EIG10, EJM7	137163	1p36.33
{Esophageal cancer, alcohol-related, susceptibility to} (3)	ALDH2	100650	12q24.12
{Esophagitis, eosinophilic, 1} (2)	EOE1, EE	610247	7q11.2
{Esophagitis, eosinophilic, 2} (2)	EOE2	613412	5q22
{Essential tremor, hereditary, 1}, 190300 (3)	DRD3, ETM1, FET1	126451	3q13.31
{Exfoliation syndrome, susceptibility to}, 177650 (3)	LOXL1, LOXL	153456	15q24.1
{Fatty liver disease, nonalcoholic, susceptibility to, 1} (2)	NAFLD1	613282	22q13
{Fatty liver disease, nonalcoholic, susceptibility to, 2} (2)	NAFLD2	613387	11q23
{Fibrocalculous pancreatic diabetes, susceptibility to}, 608189 (3)	SPINK1, PSTI, PCTT, TATI, TCP	167790	5q32
{Follicular lymphoma, susceptibility to, 1} (2)	FL1	613024	6p21.33
{Gallbladder disease 4}, 611465 (3)	ABCG8, GBD4, STSL1	605460	2p21
{Gastric cancer risk after H. pylori infection}, 613659 (3)	IL1B	147720	2q14.1
{Gastric cancer risk after H. pylori infection}, 613659 (3)	IL1RN, MVCD4, DIRA	147679	2q14.1
{Gene expression, variation in, QTL} (2)	GEVQ1	608875	14q32
{Gene expression, variation in, QTL} (2)	GEVQ2	608878	20q13
{Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}, 613060 (3)	GABRD, GEFSP5, EIG10, EJM7	137163	1p36.33
{Gilles de la Tourette syndrome, susceptibility to}, 137580 (3)	HDC	142704	15q21.2
{Glaucoma, normal tension, susceptibility to}, 606657 (3)	OPA1, NTG, NPG, BERHS, MTDPS14	605290	3q29
{Glaucoma, normal tension, susceptibility to}, 606657 (3)	OPTN, GLC1E, FIP2, HYPL, NRP, ALS12	602432	10p13
{Glioblastoma 3}, 613029 (3)	BRCA2, FANCD1, BROVCA2, GLM3, PNCA2	600185	13q13.1
{Glioma susceptibility 1}, 137800 (3)	TP53, P53, LFS1 , BCC7, BMFS5	191170	17p13.1
{Glioma susceptibility 2}, 613028 (3)	PTEN, MMAC1, GLM2, CWS1	601728	10q23.31
{Glioma susceptibility 4} (2)	GLM4	607248	15q23-q26.3
{Glioma susceptibility 5} (2)	GLM5	613030	9p21.3
{Glioma susceptibility 6} (2)	GLM6	613031	20q13.33
{Glioma susceptibility 7} (2)	GLM7	613032	8q24.21
{Glioma susceptibility 8} (2)	GLM8	613033	5p15.33
{Glioma susceptibility 9}, 616568 (3)	POT1, CMM10, GLM9	606478	7q31.33
{Glioma, susceptibility to, somatic}, 137800 (3)	IDH1	147700	2q34
{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)	APOL1, FSGS4	603743	22q12.3
{Glucocorticoid therapy, response to}, 614400 (3)	GLCCI1, TSSN1, GCTR	614283	7p21.3
{Gout susceptibility 4}, 612671 (3)	SLC17A3, NPT4, UAQTL4, GOUT4	611034	6p22.2
{Graft-versus-host disease, protection against}, 614395 (3)	IL10, CSIF, GVHDS	124092	1q32.1
{Graves disease, susceptibility to, 1} (2)	GRD1	275000	14q31
{Graves disease, susceptibility to, 2} (2)	GRD2	603388	20q13.11
{Graves disease, susceptibility to, X-linked} (2)	GRDX, GD3	300351	Xp11
{H. pylori infection, susceptibility to}, 600263 (3)	IFNGR1, IMD27A, IMD27B	107470	6q23.3
{HFE hemochromatosis, modifier of}, 235200 (3)	BMP2, BMP2A, BDA2, SSFSC1	112261	20p12.3
{HIV infection, resistance to}, 609423 (2)	CCL3, SCYA3, MIP1A	182283	17q12
{HIV infection, susceptibility/resistance to} (3)	CCR2, CMKBR2	601267	3p21.31
{HIV infection, susceptibility/resistance to} (3)	CCR5, CMKBR5, CCCKR5, IDDM22	601373	3p21.31
{HIV type 1, susceptibility to}, 609423 (3)	CD209, CDSIGN	604672	19p13.2
{HIV-1 disease, delayed progression of}, 609423 (3)	CCL5, SCYA5, D17S136E, TCP228	187011	17q12
{HIV-1 disease, rapid progression of}, 609423 (3)	CCL5, SCYA5, D17S136E, TCP228	187011	17q12
{HIV-1 viremia, susceptibility to}, 609423 (3)	HLA-C, PSORS1	142840	6p21.33
{HIV-1, resistance to}, 609423 (3)	CCL2, SCYA2, MCP1, MCAF	158105	17q12
{HIV-1, susceptibility to}, 609423 (3)	IL10, CSIF, GVHDS	124092	1q32.1
{HIV/AIDS, susceptibility to}, 609423 (3)	CCL3L1, SCYA3L1, LD78	601395	17q11.2
{HIV1 infection, resistance to}, 609423 (3)	TLR3, IMD83	603029	4q35.1
{HIV1, resistance to}, 609423 (3)	CCL11, SCYA11	601156	17q12
{Hangover, susceptibility to}, 610251 (3)	ALDH2	100650	12q24.12
{Hashimoto thyroiditis}, 140300 (3)	CTLA4, IDDM12, CELIAC3, ALPS5	123890	2q33.2
{Hemangioma, capillary infantile, susceptibility to}, 602089 (3)	KDR	191306	4q12
{Hemolytic disease of fetus and newborn, RH-induced}, 619462 (3)	RHD, HDFNRH	111680	1p36.11
{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3)	CFH, HF1, HUS, ARMD4, AHUS1	134370	1q31.3
{Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3)	MCP, CD46, AHUS2	120920	1q32.2
{Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)	CFI, FI, AHUS3, ARMD13	217030	4q25
{Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3)	CFB, BF, GBG, AHUS4, ARMD14, CFBD	138470	6p21.33
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)	C3, ARMD9, AHUS5	120700	19p13.3
{Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3)	THBD, THRM, AHUS6, THPH12	188040	20p11.21
{Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)	DGKE, NPHS7, AHUS7	601440	17q22
{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)	CFHR1, FHR1, HFL1, CFHL1	134371	1q31.3
{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)	CFHR3, FHR3, HLF4, CFHL3	605336	1q31.3
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)	COL4A1, BSVD1, HANAC, ICH, BSVD, RATOR, PADMAL	120130	13q34
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)	COL4A2, BSVD2, ICH	120090	13q34
{Hepatic fibrosis susceptibility due to Schistosoma mansoni infection} (2)	SM2	604201	6q22-q23
{Hepatitis B virus infection, susceptibility to}, 610424 (3)	IFNGR1, IMD27A, IMD27B	107470	6q23.3
{Hepatitis B virus, susceptibility to}, 610424 (3)	IFNAR2, IMD45	602376	21q22.11
{Hepatitis B virus, susceptibility to}, 610424 (3)	IL10RB, CRFB4, IBD25	123889	21q22.11
{Hepatitis C virus infection, response to therapy of}, 609532 (3)	IFNL3, IL28B	607402	19q13.2
{Hepatitis C virus, resistance to}, 609532 (3)	CCR5, CMKBR5, CCCKR5, IDDM22	601373	3p21.31
{Hepatitis C virus, response to therapy of}, 609532 (3)	IFNG, IFG, IFI, IMD69	147570	12q15
{Hepatitis C virus, susceptibility to}, 609532 (3)	PTPRC, CD45, LCA	151460	1q31.3-q32.1
{High density lipoprotein cholesterol level QTL 7} (3)	EDN1, ARCND3, QME, HDLCQ7	131240	6p24.1
{High density lipoprotein cholesterol, low serum, 3} (2)	HDLC3	607687	16q24.1
{Hirschsprung disease, protection against}, 142623 (3)	RET, MEN2A, HSCR1	164761	10q11.21
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)	RET, MEN2A, HSCR1	164761	10q11.21
{Hirschsprung disease, susceptibility to, 2}, 600155 (3)	EDNRB, HSCR2, ABCDS, WS4A	131244	13q22.3
{Hirschsprung disease, susceptibility to, 3}, 613711 (3)	GDNF, HSCR3	600837	5p13.2
{Hirschsprung disease, susceptibility to, 4}, 613712 (3)	EDN3, WS4B, HSCR4	131242	20q13.32
{Hirschsprung disease, susceptibility to, 5} (2)	HSCR5	600156	9q31
{Hirschsprung disease, susceptibility to, 6} (2)	HSCR6	606874	3p21
{Hirschsprung disease, susceptibility to, 7} (2)	HSCR7	606875	19q12
{Hirschsprung disease, susceptibility to, 8} (2)	HSCR8	608462	16q23
{Hirschsprung disease, susceptibility to, 9} (2)	HSCR9	611644	4q31.3-q32.3
{Hodgkin disease susceptibility, pseudoautosomal} (2)	HDPA	300221	Xpter-p22.32
{Hodgkin lymphoma, susceptibility to}, 236000 (3)	KLHDC8B, CHL	613169	3p21.31
{Human coronavirus sensitivity} (2)	HCVS	122460	15q11-qter
{Human herpesvirus 8, susceptibility to} (2)	HHV8S	614836	3p22
{Hyperapobetalipoproteinemia, susceptibility to} (3)	PPARA, PPAR	170998	22q13.31
{Hypercalciuria, absorptive, susceptibility to}, 143870 (3)	ADCY10, SAC, HCA2	605205	1q24.2
{Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)	EPHX2	132811	8p21.2-p21.1
{Hypercholesterolemia, familial, modifier of}, 143890 (3)	APOA2	107670	1q23.3
{Hypercholesterolemia, familial, modifier of}, 143890 (3)	GHR, GHIP	600946	5p13.1-p12
{Hypercholesterolemia, susceptibility to}, 143890 (3)	GSBS	604088	7p14.3
{Hyperlipidemia, familial combined, susceptibility to}, 602491 (3)	USF1, HYPLIP1	191523	1q23.3
{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)	HLA-A	142800	6p22.1
{Hypertension, diastolic, resistance to}, 608622 (3)	KCNMB1	603951	5q35.1
{Hypertension, essential, salt-sensitive}, 145500 (3)	ADD1	102680	4p16.3
{Hypertension, essential, susceptibility to, 1}, 145500 (2)	HYT1	603918	17q
{Hypertension, essential, susceptibility to, 2}, 145500 (2)	HYT2	604329	15q
{Hypertension, essential, susceptibility to, 3}, 145500 (2)	HYT3	607329	2p25-p24
{Hypertension, essential, susceptibility to, 4}, 145500 (2)	HYT4	608742	12p12.2-p12.1
{Hypertension, essential, susceptibility to, 5}, 145500 (2)	HYT5	610261	20q11-q13
{Hypertension, essential, susceptibility to, 6}, 145500 (2)	HYT6	610262	5p13-q12
{Hypertension, essential, susceptibility to, 7} (2)	HYT7	610948	3p14.1-q12.3
{Hypertension, essential, susceptibility to, 8} (2)	HYT8	611014	18q21.2
{Hypertension, essential, susceptibility to}, 145500 (3)	AGT, SERPINA8	106150	1q42.2
{Hypertension, essential, susceptibility to}, 145500 (3)	ECE1	600423	1p36.12
{Hypertension, essential, susceptibility to}, 145500 (3)	GNB3, CSNB1H	139130	12p13.31
{Hypertension, essential}, 145500 (3)	AGTR1, AGTR1A, AT2R1	106165	3q24
{Hypertension, insulin resistance-related, susceptibility to}, 125853 (3)	RETN, RSTN, FIZZ3	605565	19p13.2
{Hypertension, pregnancy-induced}, 189800 (3)	NOS3	163729	7q36.1
{Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3)	CYP3A5, P450PCN3	605325	7q22.1
{Hypertension, susceptibility to}, 145500 (3)	NOS3	163729	7q36.1
{Hypertriglyceridemia, susceptibility to}, 145750 (3)	APOA5	606368	11q23.3
{Hypertrypsinemia, neonatal} (3)	CFTR, ABCC7, CF, MRP7	602421	7q31.2
{Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3)	HS6ST1, HS6ST, HH15	604846	2q14.3
{Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)	SEMA3A, SEMAD, COLL1, HH16	603961	7q21.11
{Hypospadias 4, X-linked, susceptibility to} (2)	HYSP4	300856	Xp11.22
{IgA nephropathy, susceptibility to, 1} (2)	IGAN1	161950	6q22-q23
{IgA nephropathy, susceptibility to, 2} (2)	IGAN2	613944	2q36
{Immunodeficiency 83, susceptibility to viral infections}, 613002 (3)	TLR3, IMD83	603029	4q35.1
{Inflammatory bowel disease (Crohn disease) 10}, 611081 (3)	ATG16L1, APG16L, IBD10	610767	2q37.1
{Inflammatory bowel disease (Crohn disease) 19}, 612278 (3)	IRGM, LRG47, IFI1, IBD19	608212	5q33.1
{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)	NOD2, CARD15, IBD1, CD, YAOS, BLAUS	605956	16q12.1
{Inflammatory bowel disease 11} (2)	IBD11	191390	7q22
{Inflammatory bowel disease 12} (2)	IBD12	612241	3p21.3
{Inflammatory bowel disease 13}, 612244 (3)	ABCB1, PGY1, MDR1, IBD13, CLCs	171050	7q21.12
{Inflammatory bowel disease 14}, 612245 (3)	IRF5, IBD14, SLEB10	607218	7q32.1
{Inflammatory bowel disease 15} (2)	IBD15	612255	10q21
{Inflammatory bowel disease 16} (2)	IBD16	612259	9q32
{Inflammatory bowel disease 17, protection against}, 612261 (3)	IL23R, IBD17	607562	1p31.3
{Inflammatory bowel disease 18} (2)	IBD18	612262	5p13.1
{Inflammatory bowel disease 20} (2)	IBD20	612288	10q23-q24
{Inflammatory bowel disease 21} (2)	IBD21	612354	18p11
{Inflammatory bowel disease 22} (2)	IBD22	612380	17q21.2
{Inflammatory bowel disease 23} (2)	IBD23	612381	1q32.1
{Inflammatory bowel disease 24} (2)	IBD24	612566	20q13
{Inflammatory bowel disease 26} (2)	IBD26	612639	12q15
{Inflammatory bowel disease 27} (2)	IBD27	612796	13q13.3
{Inflammatory bowel disease 29}, 618077 (3)	INAVA, C1orf106, IBD29	618051	1q32.1
{Inflammatory bowel disease 2} (2)	IBD2	601458	12p13.2-q24.1
{Inflammatory bowel disease 3} (2)	IBD3	604519	6p21.3
{Inflammatory bowel disease 4} (2)	IBD4	606675	14q11-q12
{Inflammatory bowel disease 5} (2)	IBD5	606348	5q31
{Inflammatory bowel disease 6} (2)	IBD6	606674	19p13
{Inflammatory bowel disease 7} (2)	IBD7	605225	1p36
{Inflammatory bowel disease 8} (2)	IBD8	606668	16p
{Inflammatory bowel disease 9} (2)	IBD9	608448	3p26
{Influenza, severe, susceptibility to}, 614680 (3)	IFITM3	605579	11p15.5
{Insulin resistance, susceptibility to}, 125853 (3)	PTPN1, PTP1B	176885	20q13.13
{Intelligence QTL1} (2)	INTLQ1	603783	4p16-q34
{Intelligence QTL3} (2)	INTLQ2	610295	2q24.1-q31.1
{Intelligence QTL3} (2)	INTLQ3	610294	6p25.3-p22.3
{Intervertebral disc disease, susceptibility to}, 603932 (3)	COL9A3, EDM3, IDD	120270	20q13.33
{Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3)	IL6, IFNB2, BSF2, HSF, HGF	147620	7p15.3
{Ischemic stroke, susceptibility to}, 601367 (3)	NOS3	163729	7q36.1
{Kala-azar, susceptibility to, 1} (2)	KAZA1	608207	22q12
{Kala-azar, susceptibility to, 2} (2)	KAZA2	611381	1p22
{Kala-azar, susceptibility to, 3} (2)	KAZA3	611382	6q27
{Kaposi sarcoma, susceptibility to}, 148000 (3)	IL6, IFNB2, BSF2, HSF, HGF	147620	7p15.3
{Kuru, susceptibility to}, 245300 (3)	PRNP, PRIP, KURU, CJD	176640	20p13
{Lead poisoning, susceptibility to}, 612740 (3)	ALAD, ALADH, PBGS	125270	9q32
{Leanness, inherited}, 601665 (3)	AGRP, ART, AGRT	602311	16q22.1
{Leber hereditary optic neuropathy, modifier of}, 308905 (3)	PRICKLE3, LMO6, LOAM	300111	Xp11.23
{Legionnaire disease, susceptibility to}, 608556 (3)	TLR5, TIL3, SLEB1, MELIOS	603031	1q41
{Leprosy, paucibacillary type, susceptibility to} (2)	LPRS	609888	10p13
{Leprosy, protection against}, 613223 (3)	TLR1, TIL. LPRS5	601194	4p14
{Leprosy, susceptibility to, 2} (2)	LPRS2	607572	6q25
{Leprosy, susceptibility to, 4}, 610988 (3)	LTA, TNFB	153440	6p21.33
{Leprosy, susceptibility to, 5}, 613223 (3)	TLR1, TIL. LPRS5	601194	4p14
{Leprosy, susceptibility to, 6} (2)	LPRS6	613407	13q14.11
{Leprosy, susceptibility to}, 246300 (3)	TLR2, TIL4	603028	4q31.3
{Leukemia, acute lymphoblastic, susceptibility to, 2} (2)	ALL2	613067	7p12.2
{Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)	PAX5, BSAP, ALL3	167414	9p13.2
{Leukemia, acute lymphocytic, susceptibility to, 1} (2)	ALL1	613065	10q21
{Leukemia, acute myeloid, susceptibility to}, 601626 (3)	GATA2, DCML, MONOMAC, IMD21	137295	3q21.3
{Leukemia, acute myeloid}, 601626 (3)	CHIC2, BTL	604332	4q12
{Leukemia, acute myeloid}, 601626 (3)	TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9	187270	5p15.33
{Leukemia, chronic lymphocytic susceptibility to, 4} (2)	CLLS4	612558	6p25
{Leukemia, chronic lymphocytic susceptibility to, 5} (2)	CLLS5	612559	11q24.1
{Leukemia, chronic lymphocytic, susceptibility to, 1} (2)	CLLS1	609630	11p11
{Leukemia, chronic lymphocytic, susceptibility to, 2} (2)	CLLS2, D13S25, DBM	109543	13q14
{Leukemia, chronic lymphocytic, susceptibility to, 3} (2)	CLLS3	612557	9q34.1
{Leukemia, post-chemotherapy, susceptibility to} (3)	NQO1, DIA4, NMOR1	125860	16q22.1
{Lewy body dementia, susceptibility to}, 127750 (3)	GBA	606463	1q22
{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)	LMNB2, LMN2, EPM9, MCPH27	150341	19p13.3
{Long QT syndrome 1, acquired, susceptibility to}, 192500 (3)	KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2	607542	11p15.5-p15.4
{Long QT syndrome 2, acquired, susceptibility to}, 613688 (3)	KCNH2, LQT2, HERG, SQT1	152427	7q36.1
{Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3)	ALG10B, KCR1, ALG10	603313	12q12
{Low density lipoprotein cholesterol level QTL 1}, 603776 (3)	PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1, FHCL3	607786	1p32.3
{Low renin hypertension, susceptibility to} (3)	CYP11B2	124080	8q24.3
{Lumbar disc degeneration}, 603932 (3)	ASPN, PLAP1, OS3	608135	9q22.31
{Lumbar disc disease, susceptibility to}, 603932 (3)	CILP	603489	15q22.31
{Lumbar disc herniation, susceptibility to}, 603932 (3)	COL11A1, STL2, DFNA37	120280	1p21.1
{Lumbar disc herniation, susceptibility to}, 603932 (3)	THBS2	188061	6q27
{Lung cancer susceptibility 2}, 612052 (3)	CHRNA3, LNCR2, PAOD2, BAIPRCK	118503	15q25.1
{Lung cancer susceptibility 2}, 612052 (3)	CHRNA5, LNCR2	118505	15q25.1
{Lung cancer susceptibility 3} (2)	LNCR3	612571	5p15.33
{Lung cancer susceptibility 4} (2)	LNCR4	612593	6p21.33
{Lung cancer susceptibility 5} (2)	LNCR5	614210	3q28
{Lung cancer susceptibility} (2)	LNCR1	608935	6q23-q25
{Lung cancer, protection against, in smokers} (3)	MPO	606989	17q22
{Lung cancer, protection against}, 211980 (3)	CASP8, MCH5, ALPS2B	601763	2q33.1
{Lung cancer, resistance to}, 211980 (3)	CYP2A6, CYP2A3, CYP2A, P450C2A	122720	19q13.2
{Lung cancer, susceptibility to}, 211980 (3)	ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11	609413	10q11.23
{Lung cancer, susceptibility to}, 211980 (3)	FASLG, TNFSF6, APT1LG1, FASL, ALPS1B	134638	1q24.3
{Lupus nephritis, susceptibility to}, 152700 (3)	FCGR2A, IGFR2, CD32	146790	1q23.3
{Lymphoma, follicular, somatic}, 605027 (3)	BCL10, IMD37	603517	1p22.3
{Lysis by alloreactive natural killer cells, susceptibility to} (2)	NKS1, EC1	272370	6p21.3
{Macroglobulinemia, Waldenstrom, susceptibility to, 2} (2)	WM2	610430	4q
{Macular degeneration, age-related, 11}, 611953 (3)	CST3, ARMD11	604312	20p11.21
{Macular degeneration, age-related, 12}, 613784 (3)	CX3CR1, GPR13, V28	601470	3p22.2
{Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)	CFI, FI, AHUS3, ARMD13	217030	4q25
{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)	C2, ARMD14	613927	6p21.33
{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)	CFB, BF, GBG, AHUS4, ARMD14, CFBD	138470	6p21.33
{Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)	C9, C9D, ARMD15	120940	5p13.1
{Macular degeneration, age-related, 1}, 603075 (3)	HMCN1, FBLN6, FIBL6, ARMD1	608548	1q25.3-q31.1
{Macular degeneration, age-related, 2}, 153800 (3)	ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2	601691	1p22.1
{Macular degeneration, age-related, 4}, 610698 (3)	CFH, HF1, HUS, ARMD4, AHUS1	134370	1q31.3
{Macular degeneration, age-related, 7}, 610149 (3)	HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2	602194	10q26.13
{Macular degeneration, age-related, 8}, 613778 (3)	LOC387715, ARMD8	611313	10q26.13
{Macular degeneration, age-related, 9}, 611378 (3)	C3, ARMD9, AHUS5	120700	19p13.3
{Macular degeneration, age-related, neovascular type}, 610149 (3)	HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2	602194	10q26.13
{Macular degeneration, age-related, reduced risk of}, 603075 (3)	CFHR1, FHR1, HFL1, CFHL1	134371	1q31.3
{Macular degeneration, age-related, reduced risk of}, 603075 (3)	CFHR3, FHR3, HLF4, CFHL3	605336	1q31.3
{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3)	ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11	609413	10q11.23
{Major affective disorder 1} (2)	MAFD1, BPAD, MD1	125480	18p
{Major affective disorder 3, early onset} (2)	MAFD3, BPEO	609633	21q22.13
{Major affective disorder 5} (2)	MAFD5	611535	2q22-q24
{Major affective disorder 6} (2)	MAFD6, BPAD	611536	6q23-q24
{Major affective disorder-7, susceptibility to}, 612371 (3)	XBP1, XBP2	194355	22q12.1
{Major affective disorder-8, susceptibility to} (2)	MAFD8	612357	10q21
{Major affective disorder-9, susceptibility to} (2)	MAFD9	612372	12p13.3
{Major depressive disorder and accelerated response to antidepressant drug treatment}, 608516 (3)	FKBP5, FKBP51	602623	6p21.31
{Major depressive disorder, response to citalopram therapy in}, 608516 (3)	HTR2A	182135	13q14.2
{Malaria, cerebral, reduced risk of}, 611162 (3)	CD36, CHDS7, BDPLT10	173510	7q21.11
{Malaria, cerebral, susceptibility to}, 611162 (3)	CD36, CHDS7, BDPLT10	173510	7q21.11
{Malaria, cerebral, susceptibility to}, 611162 (3)	ICAM1	147840	19p13.2
{Malaria, cerebral, susceptibility to}, 611162 (3)	TNF, TNFA	191160	6p21.33
{Malaria, intensity of infection} (2)	PFBI	248310	5q31-q33
{Malaria, mild, susceptibility to}, 609148 (3)	NCR3, 1C7, NKP30, CD337, MALS	611550	6p21.33
{Malaria, protection against}, 611162 (3)	TIRAP, BACTS1	606252	11q24.2
{Malaria, resistance to}, 611162 (3)	FCGR2B, CD32	604590	1q23.3
{Malaria, resistance to}, 611162 (3)	GYPA, MN, GPA	617922	4q31.21
{Malaria, resistance to}, 611162 (3)	GYPB, SS	617923	4q31.21
{Malaria, resistance to}, 611162 (3)	GYPC, GE, GPC	110750	2q14.3
{Malaria, resistance to}, 611162 (3)	HBB, ECYT6	141900	11p15.4
{Malaria, resistance to}, 611162 (3)	NOS2A, NOS2	163730	17q11.2
{Malaria, severe, resistance to}, 611162 (3)	CR1, C3BR	120620	1q32.2
{Malaria, severe, susceptibility to}, 611162 (3)	FCGR2A, IGFR2, CD32	146790	1q23.3
{Malaria, susceptibility to}, 611162 (3)	CISH, BACTS2	602441	3p21.2
{Malaria, vivax, protection against}, 611162 (3)	ACKR1, DARC, FY, GPD, WBCQ1	613665	1q23.2
{Male germ cell tumor, somatic}, 273300 (3)	BCL10, IMD37	603517	1p22.3
{Malignant hyperthermia susceptibility 1}, 145600 (3)	RYR1, MHS, CCO, KDS	180901	19q13.2
{Malignant hyperthermia susceptibility 2} (2)	MHS2	154275	17q11.2-q24
{Malignant hyperthermia susceptibility 3} (2)	MHS3	154276	7q21-q22
{Malignant hyperthermia susceptibility 4} (2)	MHS4	600467	3q13.1
{Malignant hyperthermia susceptibility 5}, 601887 (3)	CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1, MHS5	114208	1q32.1
{Malignant hyperthermia susceptibility 6} (2)	MHS6	601888	5p
{Maturity-onset diabetes of the young, type 14}, 616511 (3)	APPL1, APPL, MODY14	604299	3p14.3
{Meconium ileus in cystic fibrosis, susceptibility to} (2)	CFM1	603855	19q13.2-q13.4
{Medulloblastoma}, 155255 (3)	BRCA2, FANCD1, BROVCA2, GLM3, PNCA2	600185	13q13.1
{Melanoma and neural system tumor syndrome}, 155755 (3)	CDKN2A, MTS1, P16, MLM, CMM2	600160	9p21.3
{Melanoma, cutaneous malignant, 1} (2)	CMM, MLM, DNS	155600	1p36
{Melanoma, cutaneous malignant, 2}, 155601 (3)	CDKN2A, MTS1, P16, MLM, CMM2	600160	9p21.3
{Melanoma, cutaneous malignant, 3}, 609048 (3)	CDK4, CMM3	123829	12q14.1
{Melanoma, cutaneous malignant, 4} (2)	CMM4	608035	1p22
{Melanoma, cutaneous malignant, 5}, 613099 (3)	MC1R, SHEP2, CMM5	155555	16q24.3
{Melanoma, cutaneous malignant, 6}, 613972 (3)	XRCC3, CMM6	600675	14q32.33
{Melanoma, cutaneous malignant, 7} (2)	CMM7	612263	20q11.2
{Melanoma, cutaneous malignant, 9}, 615134 (3)	TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9	187270	5p15.33
{Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3)	POT1, CMM10, GLM9	606478	7q31.33
{Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3)	TYR, SHEP3, CMM8, OCA1A, ATN	606933	11q14.3
{Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 (3)	MITF, WS2A, CMM8, COMMAD	156845	3p13
{Melanoma, uveal, susceptibility to, 1} (2)	UVM1	606660	3q24-q26
{Melanoma, uveal, susceptibility to, 2} (2)	UVM2	606661	3p25.2-p25.1
{Melanoma-pancreatic cancer syndrome}, 606719 (3)	CDKN2A, MTS1, P16, MLM, CMM2	600160	9p21.3
{Melioidosis, susceptibility to}, 615557 (3)	TLR5, TIL3, SLEB1, MELIOS	603031	1q41
{Menarche, age at, QTL2} (2)	MENAQ2	612882	6q21
{Menarche, age at, QTL3} (2)	MENAQ3	612883	9q31.2
{Menarche, age at, QTL} (2)	MENAQ1	610873	22q13
{Meningioma, familial, susceptibility to}, 607174 (3)	SMARCE1, BAF57, CSS5	603111	17q21.2
{Meningioma, familial, susceptibility to}, 607174 (3)	SUFU, SUFUXL, SUFUH, JBTS32	607035	10q24.32
{Meningioma}, 607174 (3)	PTEN, MMAC1, GLM2, CWS1	601728	10q23.31
{Menopause, natural, age at, QTL1} (2)	MENOQ1	300488	Xp21.3
{Menopause, natural, age at, QTL2} (2)	MENOQ2	612884	19q13.4
{Menopause, natural, age at, QTL4} (2)	MENOQ4	612886	5q35.2
{Mental health wellness-1} (2)	MHW1	603663	4p
{Mental health wellness-2} (2)	MHW2	603664	4q
{Mesothelioma, somatic}, 156240 (3)	BCL10, IMD37	603517	1p22.3
{Metabolic syndrome, protection against}, 605552 (3)	MTTP	157147	4q23
{Microvascular complications of diabetes 1}, 603933 (3)	VEGF, MVCD1	192240	6p21.1
{Microvascular complications of diabetes 2}, 612623 (3)	EPO, MVCD2, ECYT5, DBAL	133170	7q22.1
{Microvascular complications of diabetes 3}, 612624 (3)	ACE, DCP1, ACE1, MVCD3, ICH	106180	17q23.3
{Microvascular complications of diabetes 4}, 612628 (3)	IL1RN, MVCD4, DIRA	147679	2q14.1
{Microvascular complications of diabetes 5}, 612633 (3)	PON1, PON, ESA, MVCD5	168820	7q21.3
{Microvascular complications of diabetes 6}, 612634 (3)	SOD2, MNSOD, MVCD6	147460	6q25.3
{Microvascular complications of diabetes 7}, 612635 (3)	HFE, HLA-H, HFE1, MVCD7, TFQTL2	613609	6p22.2
{Migraine with aura, susceptibility to, 7} (2)	MGR7	609179	15q11.2-q12
{Migraine with aura, susceptibility to, 9} (2)	MGR9	609670	11q24
{Migraine with or without aura, susceptibility to, 10} (2)	MGR10	610208	17p13.1
{Migraine with or without aura, susceptibility to, 11} (2)	MGR11	610209	18q12.1
{Migraine with or without aura, susceptibility to, 1} (2)	MGR1, MA	157300	4q24
{Migraine with or without aura, susceptibility to, 3} (2)	MGR3	607498	6p21.1-p12.2
{Migraine with or without aura, susceptibility to, 5} (2)	MGR5	607508	19p13
{Migraine with or without aura, susceptibility to, 6} (2)	MGR6, FHM3	607516	1q31
{Migraine without aura, susceptibility to, 4} (2)	MGR4, MGOA	607501	14q21.2-q22.3
{Migraine without aura, susceptibility to}, 157300 (3)	TNF, TNFA	191160	6p21.33
{Migraine, familial hemiplegic, 4} (2)	MGR6, FHM3	607516	1q31
{Migraine, familial typical, susceptibility to, 2} (2)	MGR2	300125	Xq
{Migraine, resistance to}, 157300 (3)	EDNRA, MFDA	131243	4q31.22-q31.23
{Migraine, susceptibility to, 8} (2)	MGR8	609570	5q21
{Migraine, susceptibility to}, 157300 (3)	ESR1, ESR, ESTRR	133430	6q25.1-q25.2
{Migraine, with or without aura, susceptibility to, 12} (2)	MGR12	611706	10q22-q23
{Migraine, with or without aura, susceptibility to, 13}, 613656 (3)	KCNK18, TRESK, TRIK, MGR13	613655	10q25.3
{Moyamoya disease 2, susceptibility to}, 607151 (3)	RNF213, ALO17, KIAA1618, MYMY2	613768	17q25.3
{Multiple myeloma, resistance to}, 254500 (3)	LIG4, LIG4S	601837	13q33.3
{Multiple myeloma, susceptibility to}, 254500 (3)	CCND1, PRAD1, BCL1	168461	11q13.3
{Multiple sclerosis, disease progression, modifier of}, 126200 (3)	PDCD1, SLEB2	600244	2q37.3
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)	HLA-DQB1, CELIAC1	604305	6p21.32
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)	HLA-DRB1, SS1	142857	6p21.32
{Multiple sclerosis, susceptibility to, 2} (2)	MS2	612594	10p15.1
{Multiple sclerosis, susceptibility to, 3} (2)	MS3	612595	5p13.2
{Multiple sclerosis, susceptibility to, 4} (2)	MS4	612596	1p36
{Multiple sclerosis, susceptibility to, 5}, 614810 (3)	TNFRSF1A, TNFR1, TNFAR, FPF, MS5	191190	12p13.31
{Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3)	TGFBR1, ALK5, AAT5, LDS1, MSSE	190181	9q22.33
{Multiple system atrophy, susceptibility to}, 146500 (3)	COQ2, COQ10D1, MSA1	609825	4q21.23
{Mycobacterium tuberculosis, protection against}, 607948 (3)	IRGM, LRG47, IFI1, IBD19	608212	5q33.1
{Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3)	NRAMP1, NRAMP, SLC11A1	600266	2q35
{Mycobacterium tuberculosis, susceptibility to, 2} (2)	MTBS2	611046	8q12-q13
{Mycobacterium tuberculosis, susceptibility to, 3} (2)	MTBS3	612929	20q13.31-q13.33
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)	CCL2, SCYA2, MCP1, MCAF	158105	17q12
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)	CD209, CDSIGN	604672	19p13.2
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)	SP110, IFI41, IFI75, VODI	604457	2q37.1
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)	TLR2, TIL4	603028	4q31.3
{Mycobacterium tuberculosis, susceptibility, X-linked} (2)	MTBSX	300259	Xq
{Myelodysplastic syndrome, susceptibility to}, 614286 (3)	GATA2, DCML, MONOMAC, IMD21	137295	3q21.3
{Myeloproliferative neoplasms, familial, susceptibility to} (4)	DUP14q32, C14DUPq32	616604	14q32
{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3)	DDX41, ABS, MPLPF	608170	5q35.3
{Myocardial infarction, decreased susceptibility to}, 608446 (3)	F7	613878	13q34
{Myocardial infarction, protection against}, 608446 (3)	F13A1, F13A	134570	6p25.1
{Myocardial infarction, susceptibility to, 2} (2)	MCI2	608557	13q12
{Myocardial infarction, susceptibility to} (3)	ACE, DCP1, ACE1, MVCD3, ICH	106180	17q23.3
{Myocardial infarction, susceptibility to}, 608446 (3)	ESR1, ESR, ESTRR	133430	6q25.1-q25.2
{Myocardial infarction, susceptibility to}, 608446 (3)	GCLC, GLCLC	606857	6p12.1
{Myocardial infarction, susceptibility to}, 608446 (3)	GCLM, GLCLR	601176	1p22.1
{Myocardial infarction, susceptibility to}, 608446 (3)	ITGB3, GP3A, GT2, BDPLT24	173470	17q21.32
{Myocardial infarction, susceptibility to}, 608446 (3)	LGALS2	150571	22q13.1
{Myocardial infarction, susceptibility to}, 608446 (3)	LRP8, APOER2, MCI1	602600	1p32.3
{Myocardial infarction, susceptibility to}, 608446 (3)	LTA, TNFB	153440	6p21.33
{Myocardial infarction, susceptibility to}, 608446 (3)	MIAT, C22orf35	611082	22q12.1
{Myocardial infarction, susceptibility to}, 608446 (3)	OLR1, LOX1	602601	12p13.2
{Myocardial infarction, susceptibility to}, 608446 (3)	PSMA6, PROS27, P27K	602855	14q13.2
{Myocardial infarction, susceptibility to}, 608446 (3)	TNFSF4, GP34, OX4OL	603594	1q25.1
{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3)	EFHC1, FLJ10466, EJM1, JAE, EJA1	608815	6p12.2
{Narcolepsy 4} (2)	NRCLP4	612417	22q13
{Narcolepsy 5} (2)	NRCLP5	612851	14q11.2
{Nasopharyngeal carcinoma 1} (2)	NPC1, NPCA1	607107	4p15.1-q12
{Nasopharyngeal carcinoma, susceptibility to, 2} (2)	NPCA2	161550	6p21.3
{Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)	MST1R, RON, NPCA3	600168	3p21.31
{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)	ZNF365, UAN	607818	10q21.2
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)	MTHFD1, MTHFC, CIMAH	172460	14q23.3
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)	MTR, HMAG	156570	1q43
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)	MTRR	602568	5p15.31
{Neural tube defects, susceptibility to}, 182940 (3)	FUZ, NTD	610622	19q13.33
{Neural tube defects, susceptibility to}, 182940 (3)	TBXT, T, TFT, SAVA	601397	6q27
{Neural tube defects, susceptibility to}, 182940 (3)	VANGL1, STBM2	610132	1p13.1
{Neural tube defects, susceptibility to}, 601634 (3)	MTHFR	607093	1p36.22
{Neuroblastoma, susceptibility to, 1}, 256700 (3)	KIF1B, CMT2A, CMT2A1, NBLST1	605995	1p36.22
{Neuroblastoma, susceptibility to, 2}, 613013 (3)	PHOX2B, NBPHOX, PMX2B, NBLST2, CCHS	603851	4p13
{Neuroblastoma, susceptibility to, 3}, 613014 (3)	ALK, NBLST3	105590	2p23.2-p23.1
{Neuroblastoma, susceptibility to, 4} (2)	NBLST4	613015	6p22
{Neuroblastoma, susceptibility to, 5} (2)	NBLST5	613016	2q35
{Neuroblastoma, susceptibility to, 6} (2)	NBLST6	613017	1q21.1
{Neuroblastoma, susceptibility to, 7} (2)	NBLST7	616792	11p15
{Nicotine addiction, protection from}, 188890 (3)	CYP2A6, CYP2A3, CYP2A, P450C2A	122720	19q13.2
{Nicotine addiction, susceptibility to}, 188890 (3)	CHRNA4, ENFL1	118504	20q13.33
{Nicotine dependence, protection against}, 188890 (3)	GABBR2, GPR51, DEE59, NDPLHS	607340	9q22.33
{Nicotine dependence, protection against}, 188890 (3)	SLC6A3, DAT1, PKDYS1	126455	5p15.33
{Nicotine dependence, susceptibility to}, 188890 (3)	GABBR2, GPR51, DEE59, NDPLHS	607340	9q22.33
{Nicotine dependence, susceptibility to}, 612052 (3)	CHRNA5, LNCR2	118505	15q25.1
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3)	GP1BA, BSS, BDPLT1, VWDP, BDPLT3	606672	17p13.2
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)	EGFR, NISBD2	131550	7p11.2
{Nonsmall cell lung cancer} (2)	TSG11	603040	11q23
{Norwalk virus infection, resistance to} (3)	FUT2, SE, B12QTL1	182100	19q13.33
{Obesity, association with}, 601665 (3)	SDC3, SYND3, SDCN	186357	1p35.2
{Obesity, early-onset, susceptibility to}, 601665 (3)	POMC, OBAIRH	176830	2p23.3
{Obesity, late-onset}, 601665 (3)	AGRP, ART, AGRT	602311	16q22.1
{Obesity, resistance to (BMIQ20)}, 618406 (3)	MC4R, BMIQ20	155541	18q21.32
{Obesity, severe, and type II diabetes}, 601665 (3)	UCP3	602044	11q13.4
{Obesity, severe, susceptibility to, BMIQ9}, 602025 (3)	MC3R, BMIQ9	155540	20q13.2
{Obesity, susceptibility to, BMIQ11} (2)	BMIQ11	300306	Xq24
{Obesity, susceptibility to, BMIQ12}, 612362 (3)	PCSK1, NEC1, PC1, PC3, BMIQ12	162150	5q15
{Obesity, susceptibility to, BMIQ14}, 612460 (3)	FTO, GDFD, BMIQ14	610966	16q12.2
{Obesity, susceptibility to, BMIQ19}, 617885 (3)	ADCY3, BMIQ19	600291	2p23.3
{Obesity, susceptibility to, BMIQ4}, 607447 (3)	UCP2, BMIQ4	601693	11q13.4
{Obesity, susceptibility to, BMIQ7} (2)	BMIQ7	608410	4p15-p14
{Obesity, susceptibility to, BMIQ8} (2)	BMIQ8	603188	10p
{Obesity, susceptibility to}, 601665 (3)	ADRB2	109690	5q32
{Obesity, susceptibility to}, 601665 (3)	ADRB3	109691	8p11.23
{Obesity, susceptibility to}, 601665 (3)	ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED	173335	6q23.2
{Obesity, susceptibility to}, 601665 (3)	GHRL	605353	3p25.3
{Obesity, susceptibility to}, 607514 (3)	FFAR4, O3FAR1, GPR120, PGR4, BMIQ10	609044	10q23.33
{Obsessive-compulsive disorder, susceptibility to}, 164230 (3)	HTR2A	182135	13q14.2
{Obsessive-compulsive disorder}, 164230 (3)	SLC6A4, HTT, OCD1	182138	17q11.2
{Opioid dependence, susceptibility to, 1} (2)	ODS1	610064	Chr.17
{Organophosphate poisoning, sensitivity to} (3)	PON1, PON, ESA, MVCD5	168820	7q21.3
{Orofacial cleft 6}, 608864 (3)	IRF6, VWS1, LPS, PIT, PPS1, OFC6	607199	1q32.2
{Osteoarthritis susceptibility 1}, 165720 (3)	FRZB, FRZB1, SRFP3, OS1	605083	2q32.1
{Osteoarthritis susceptibility 2}, 140600 (3)	MATN3, EDM5, HOA, OS2, SEMDBCD	602109	2p24.1
{Osteoarthritis susceptibility 3}, 607850 (3)	ASPN, PLAP1, OS3	608135	9q22.31
{Osteoarthritis susceptibility 4} (2)	OS4, GOA1	610839	2q33.3
{Osteoarthritis susceptibility 6} (2)	OS6	612401	3p24.3
{Osteoarthritis-5}, 612400 (3)	GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B, DUPANS	601146	20q11.22
{Osteofibrous dysplasia, susceptibility to}, 607278 (3)	MET, DFNB97, OSFD	164860	7q31.2
{Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3)	WNT1, INT1, OI15, BMND16	164820	12q13.12
{Osteoporosis, postmenopausal, susceptibility}, 166710 (3)	CALCR, CRT	114131	7q21.3
{Osteoporosis, postmenopausal}, 166710 (3)	COL1A2, EDSCV, EDSARTH2	120160	7q21.3
{Osteoporosis, susceptibility to}, 166710 (3)	RIL	603422	5q31.1
{Osteoporosis}, 166710 (2)	BMND7	611738	20p12.3
{Osteoporosis}, 166710 (2)	BMND8	611739	11p12
{Osteoporosis}, 166710 (3)	LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4	603506	11q13.2
{Osteosarcoma}, 259500 (3)	TP53, P53, LFS1 , BCC7, BMFS5	191170	17p13.1
{Otitis media, susceptibility to}, 166760 (3)	A2ML1, OMS	610627	12p13.31
{Otosclerosis 4} (2)	OTSC4	611571	16q22.1-q23.1
{Ovarian cancer, susceptibility to} (2)	OVCAS1	607893	3p25-p22
{Paget disease of bone 2, early-onset}, 602080 (3)	TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2	603499	18q21.33
{Pancreatic cancer 2}, 613347 (3)	BRCA2, FANCD1, BROVCA2, GLM3, PNCA2	600185	13q13.1
{Pancreatic cancer, susceptibility to, 1}, 606856 (3)	PALLD, KIAA0992, PNCA1	608092	4q32.3
{Pancreatic cancer, susceptibility to, 3}, 613348 (3)	PALB2, FANCN, PNCA3	610355	16p12.2
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)	BRCA1, PSCP, BROVCA1, PNCA4, FANCS	113705	17q21.31
{Pancreatitis, chronic, protection against}, 167800 (3)	PRSS2, TRY2	601564	7q34
{Pancreatitis, chronic, susceptibility to}, 167800 (3)	CTRC, CLCR	601405	1p36.21
{Pancreatitis, hereditary}, 167800 (3)	CFTR, ABCC7, CF, MRP7	602421	7q31.2
{Panic disorder, susceptibility to}, 167870 (3)	COMT	116790	22q11.21
{Parkinson disease 10} (2)	PARK10, AAOPD	606852	1p32
{Parkinson disease 11}, 607688 (3)	GIGYF2, KIAA0642, PARK11	612003	2q37.1
{Parkinson disease 12} (2)	PARK12	300557	Xq21-q25
{Parkinson disease 13}, 610297 (3)	HTRA2, OMI, PARK13, PRSS25, MGCA8	606441	2p13.1
{Parkinson disease 16} (2)	PARK16	613164	1q32
{Parkinson disease 17}, 614203 (3)	VPS35, MEM3, PARK17	601501	16q11.2
{Parkinson disease 18}, 614251 (3)	EIF4G1, EIF4G, PARK18	600495	3q27.1
{Parkinson disease 24, autosomal dominant, susceptibility to}, 619491 (3)	PSAP, SAP1, PSAPD, PARK24	176801	10q22.1
{Parkinson disease 3} (2)	PARK3	602404	2p13
{Parkinson disease 8}, 607060 (3)	LRRK2, PARK8	609007	12q12
{Parkinson disease, age of onset, modifier}, 168600 (3)	GLUD2	300144	Xq24
{Parkinson disease, late-onset, susceptibility to}, 168600 (3)	ATXN2, ATX2, SCA2, ASL13	601517	12q24.12
{Parkinson disease, late-onset, susceptibility to}, 168600 (3)	GBA	606463	1q22
{Parkinson disease, susceptibility to}, 168600 (3)	ADH1C, ADH3	103730	4q23
{Parkinson disease, susceptibility to}, 168600 (3)	ATXN8OS, SCA8, KLHL1AS	603680	13q21.33
{Parkinson disease, susceptibility to}, 168600 (3)	MAPT, MTBT1, DDPAC, MSTD	157140	17q21.31
{Parkinson disease, susceptibility to}, 168600 (3)	TBP, SCA17, HDL4	600075	6q27
{Patent ductus arteriosus, susceptibility to} (2)	PDA1	607411	12q24
{Pelvic organ prolapse, susceptibility to, 1} (2)	PVOP1	176780	1q31
{Pelvic organ prolapse, susceptibility to, 2} (2)	PVOP2	613088	9q21
{Pheochromocytoma, susceptibility to}, 171300 (3)	MAX	154950	14q23.3
{Pheochromocytoma, susceptibility to}, 171300 (3)	TMEM127	613403	2q11.2
{Pituitary adenoma 5, multiple types}, 617540 (3)	CDH23, USH1D, DFNB12, PITA5	605516	10q22.1
{Placental abruption} (3)	NOS3	163729	7q36.1
{Plasmodium falciparum fever episodes QTL1} (2)	PFFE1	611384	10p15
{Podoconiosis, susceptibility to} (2)	PDCOS	614590	6p21.3
{Porphyria cutanea tarda, susceptibility to}, 176100 (3)	HFE, HLA-H, HFE1, MVCD7, TFQTL2	613609	6p22.2
{Porphyria variegata, susceptibility to}, 176200 (3)	HFE, HLA-H, HFE1, MVCD7, TFQTL2	613609	6p22.2
{Preeclampsia, susceptibility to} (3)	AGT, SERPINA8	106150	1q42.2
{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)	F5, THPH2, RPRGL1	612309	1q24.2
{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)	F2, THPH1, RPRGL2	176930	11p11.2
{Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3)	ANXA5, ENX2, RPRGL3	131230	4q27
{Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)	SERPINH1, SERPINH2, PPROM, CBP2, CBP1, OI10	600943	11q13.5
{Prostate cancer aggressiveness QTL} (2)	HPCQTL19	607592	19q
{Prostate cancer, familial, susceptibility to}, 176807 (3)	CHEK2, RAD53, CHK2, CDS1, LFS2	604373	22q12.1
{Prostate cancer, hereditary, 10} (2)	HPC10	611100	8q24
{Prostate cancer, hereditary, 11} (2)	HPC11	611955	17q12
{Prostate cancer, hereditary, 12}, 611868 (3)	EHBP1, KIAA0903, HPC12	609922	2p15
{Prostate cancer, hereditary, 13}, 611928 (3)	MSMB, HPC13	157145	10q11.22
{Prostate cancer, hereditary, 14} (2)	HPC14	611958	11q13
{Prostate cancer, hereditary, 15} (2)	HPC15	611959	19q13.4
{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3)	ELAC2, HPC2, COXPD17	605367	17p12
{Prostate cancer, hereditary, 5} (2)	HPC5	609299	3p26
{Prostate cancer, hereditary, 7} (2)	HPC7	610321	15q12
{Prostate cancer, hereditary, 9} (2)	HPC9	610997	17q21-q22
{Prostate cancer, hereditary, 9}, 610997 (3)	HOXB13, HPC9	604607	17q21.32
{Prostate cancer, hereditary, X-linked 1} (2)	HPCX1	300147	Xq27-q28
{Prostate cancer, hereditary, X-linked 2} (2)	HPCX2	300704	Xp11.22
{Prostate cancer, susceptibility to, 3} (2)	HPC3	608656	20q13
{Prostate cancer, susceptibility to, 4} (2)	HPC4	608658	7p11-q21
{Prostate cancer, susceptibility to} (2)	HPC6	609558	22q12.3
{Prostate cancer, susceptibility to} (2)	PCAP	602759	1q42.2-q43
{Prostate cancer, susceptibility to}, 176807 (3)	AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1	313700	Xq12
{Prostate cancer, susceptibility to}, 176807 (3)	CDH1, UVO, LCAM, ECAD, BCDS1	192090	16q22.1
{Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)	EPHB2, EPHT3, DRT, ERK, PCBC, CAPB, BDPLT22	600997	1p36.12
{Prostate cancer}, 176807 (3)	BRCA2, FANCD1, BROVCA2, GLM3, PNCA2	600185	13q13.1
{Pseudofolliculitis barbae, susceptibility to}, 612318 (3)	KRT75, K6HF, PFB	609025	12q13.13
{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)	FCGR2A, IGFR2, CD32	146790	1q23.3
{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)	XYLT1, XT1, DBQD2	608124	16p12.3
{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)	XYLT2, XT2, SOS	608125	17q21.33
{Psoriasis 15, pustular, susceptibility to}, 616106 (3)	AP1S3, PSORS15	615781	2q36.1
{Psoriasis susceptibility 10} (2)	PSORS10	612410	18p11.23
{Psoriasis susceptibility 11} (2)	PSORS11	612599	5q31.1-q33.1
{Psoriasis susceptibility 12} (2)	PSORS12	612950	20q13
{Psoriasis susceptibility 13}, 614070 (3)	TRAF3IP2, C6orf5, ACT1, CIKS, C6orf4, C6orf6, PSORS13, CANDF8	607043	6q21
{Psoriasis susceptibility 1}, 177900 (3)	HLA-C, PSORS1	142840	6p21.33
{Psoriasis susceptibility 3} (2)	PSORS3	601454	4q
{Psoriasis susceptibility 4} (2)	PSORS4	603935	1q21
{Psoriasis susceptibility 5} (2)	PSORS5	604316	3q21
{Psoriasis susceptibility 6} (2)	PSORS6	605364	19p13
{Psoriasis susceptibility 7} (2)	PSORS7	605606	1p
{Psoriasis susceptibility 8} (2)	PSORS8	610707	16q
{Psoriasis susceptibility 9} (2)	PSORS9	607857	4q31-q34
{Psoriasis, protection against}, 605606 (3)	IL23R, IBD17	607562	1p31.3
{Psoriatic arthritis, susceptibility to}, 607507 (3)	LTA, TNFB	153440	6p21.33
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3)	HMOX1, HMOX1D	141250	22q12.3
{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)	MUC5B	600770	11p15.5
{Pulmonary fibrosis, idiopathic, susceptibility to}, 614743 (3)	TERC, TRC3, TR, DKCA1, PFBMFT2	602322	3q26.2
{Pulmonary function} (2)	PLF	608852	6q21-q22
{Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to} (2)	CTEPH1	612862	6p21.3
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)	CPS1, PHN	608307	2q34
{Radioulnar synostosis, nonsyndromic}, 179300 (3)	SMAD6, MADH6, AOVD2	602931	15q22.31
{Rapid progression to AIDS from HIV1 infection}, 609423 (3)	CX3CR1, GPR13, V28	601470	3p22.2
{Renal cell carcinoma}, 144700 (3)	HNF1B, TCF2, HNF2, RCAD, T2D, ADTKD3	189907	17q12
{Renal dysplasia, cystic, susceptibility to}, 601331 (3)	BICC1, BICC, CYSRD	614295	10q21.1
{Resistance to malaria due to G6PD deficiency}, 611162 (3)	G6PD, G6PD1	305900	Xq28
{Restless legs syndrome 1} (2)	RLS1	102300	12q12-q21
{Restless legs syndrome 2} (2)	RLS2	608831	14q13-q21
{Restless legs syndrome 3} (2)	RLS3	610438	9p24-p22
{Restless legs syndrome 4} (2)	RLS4	610439	2q33
{Restless legs syndrome 5} (2)	RLS5	611242	20p13
{Restless legs syndrome 6} (2)	RLS6	611185	6p21
{Restless legs syndrome 7} (2)	RLS7	612853	2p14-p13
{Restless legs syndrome 8} (2)	RLS8	615197	5q31
{Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3)	PDZD7, DFNB57	612971	10q24.31
{Rhabdoid tumor predisposition syndrome 1}, 609322 (3)	SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3	601607	22q11.23
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)	SMARCA4, BRG1, RTPS2, MRD16, CSS4	603254	19p13.2
{Rheumatoid arthritis, progression of}, 180300 (3)	IL10, CSIF, GVHDS	124092	1q32.1
{Rheumatoid arthritis, susceptibility to} (2)	RA	180300	6q23
{Rheumatoid arthritis, susceptibility to}, 180300 (3)	CD244, NAIL, NKR2B4, SLAMF4	605554	1q23.3
{Rheumatoid arthritis, susceptibility to}, 180300 (3)	CIITA, MHC2TA, C2TA	600005	16p13.13
{Rheumatoid arthritis, susceptibility to}, 180300 (3)	NFKBIL1	601022	6p21.33
{Rheumatoid arthritis, susceptibility to}, 180300 (3)	PTPN22, PEP, PTPN8, LYP	600716	1p13.2
{Rheumatoid arthritis, susceptibility to}, 180300 (3)	SLC22A4, OCTN1	604190	5q31.1
{Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 (3)	MIF	153620	22q11.23
{Rheumatoid arthritis, systemic juvenile}, 604302 (3)	IL6, IFNB2, BSF2, HSF, HGF	147620	7p15.3
{SARS, progression of} (3)	ACE, DCP1, ACE1, MVCD3, ICH	106180	17q23.3
{Sarcoidosis, susceptibility to, 1}, 181000 (3)	HLA-DRB1, SS1	142857	6p21.32
{Sarcoidosis, susceptibility to, 2}, 612387 (3)	BTNL2, SS2	606000	6p21.32
{Sarcoidosis, susceptibility to, 3} (2)	SS3	612388	10q22.3
{Schistosoma mansoni infection, susceptibility/resistance to} (2)	SM1	181460	5q31-q33
{Schizophrenia 10} (2)	SCZD10	605419	15q15
{Schizophrenia 12}, 181500 (2)	SCZD12	608543	1p36.2
{Schizophrenia 15}, 613950 (3)	SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3, SCZD15	606230	22q13.33
{Schizophrenia 19, susceptibility to}, 617629 (3)	RBM12, KIAA0765, SCZD19	607179	20q11.22
{Schizophrenia 9, susceptibility to}, 604906 (3)	DISC1, SCZD9	605210	1q42.2
{Schizophrenia, susceptibility to, 13} (2)	SCZD13	613025	15q13
{Schizophrenia, susceptibility to, 14} (2)	SCZD14	612361	2q32.1
{Schizophrenia, susceptibility to, 17}, 614332 (3)	NRXN1, PTHSL2, SCZD17	600565	2p16.3
{Schizophrenia, susceptibility to, 4}, 600850 (3)	PRODH, PRODH2, SCZD4	606810	22q11.21
{Schizophrenia, susceptibility to}, 181500 (3)	CHI3L1, GP39, YKL40, ASRT7	601525	1q32.1
{Schizophrenia, susceptibility to}, 181500 (3)	COMT	116790	22q11.21
{Schizophrenia, susceptibility to}, 181500 (3)	DRD3, ETM1, FET1	126451	3q13.31
{Schizophrenia, susceptibility to}, 181500 (3)	HTR2A	182135	13q14.2
{Schizophrenia, susceptibility to}, 181500 (3)	MTHFR	607093	1p36.22
{Schizophrenia, susceptibility to}, 181500 (3)	RTN4R, NOGOR	605566	22q11.21
{Schizophrenia, susceptibility to}, 181500 (3)	SYN2	600755	3p25.2
{Schizophrenia}, 181500 (1)	APOL2	607252	22q12.3
{Schizophrenia}, 181500 (1)	APOL4	607254	22q12.3
{Schizophrenia}, 181500 (2)	DAOA, G72	607408	13q33.2
{Schizophrenia}, 181500 (2)	SCZD1	181510	5q23-q35
{Schizophrenia}, 181500 (2)	SCZD11	608078	10q22.3
{Schizophrenia}, 181500 (2)	SCZD3	600511	6p23
{Schizophrenia}, 181500 (2)	SCZD5	603175	6q13-q26
{Schizophrenia}, 181500 (2)	SCZD6	603013	8p21
{Schizophrenia}, 181500 (2)	SCZD7	603176	13q32
{Schizophrenia}, 181500 (2)	SCZD8	603206	18p
{Schwannomatosis-1, susceptibility to}, 162091 (3)	SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3	601607	22q11.23
{Schwannomatosis-2, susceptibility to}, 615670 (3)	LZTR1, SWNTS2, NS10, NS2	600574	22q11.21
{Scoliosis, idiopathic, susceptibility to, 4} (2)	IS4	612238	9q31.2-q34.2
{Scoliosis, idiopathic, susceptibility to, 5} (2)	IS5	612239	17q25.3
{Scoliosis, isolated, susceptibility to, 3} (2)	IS3	608765	8q12
{Seasonal affective disorder, susceptibility to}, 608516 (3)	HTR2A	182135	13q14.2
{Sepsis, susceptibility to} (3)	CASP12, CASP12P1	608633	11q22.3
{Septic shock, susceptibility to} (3)	TNF, TNFA	191160	6p21.33
{Sezary syndrome, somatic} (3)	BCL10, IMD37	603517	1p22.3
{Sick sinus syndrome 3}, 614090 (3)	MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3	160710	14q11.2
{Smoking as a quantitative trait locus 1} (2)	SQTL1	611003	10q22
{Smoking as a quantitative trait locus 2} (2)	SQTL2	611004	22q12
{Specific language impairment 4} (2)	SLI4	612514	7q35-q36
{Specific language impairment 5}, 615432 (3)	TM4SF20, SLI5	615404	2q36.3
{Speech-sound disorder} (2)	SSD	608445	3p12-q13
{Spermatogenic failure, susceptibility to} (3)	DAZL, DAZH, SPGYLA	601486	3p24.3
{Spina bifida, susceptibility to}, 182940 (3)	CCL2, SCYA2, MCP1, MCAF	158105	17q12
{Spinal muscular atrophy, type III, modifier of}, 253400 (3)	SMN2	601627	5q13.2
{Spondyloarthropathy, susceptibility to, 1}, 106300 (3)	HLA-B, SPDA1	142830	6p21.33
{Spondyloarthropathy, susceptibility to, 2} (2)	SPDA2	183840	9q31-q34
{Spondyloarthropathy, susceptibility to, 3} (2)	SPDA3	613238	2q36.1-q36.3
{Stature QTL 10} (2)	STQTL10	612221	3q23
{Stature QTL 11} (2)	STQTL11	612223	7q21
{Stature QTL 12} (2)	STQTL12	612224	4q31
{Stature QTL 13} (2)	STQTL13	612226	4p15.3
{Stature QTL 14} (2)	STQTL14	612228	20q11.22
{Stature QTL 15} (2)	STQTL15	612578	8q21.13
{Stature QTL 16} (2)	STQTL16	612579	15q22.32
{Stature QTL 17} (2)	STQTL17	612737	7p15
{Stature QTL 18} (2)	STQTL18	612892	6p22.1
{Stature QTL 19} (2)	STQTL19	612893	6p21.31
{Stature QTL 1} (2)	STQTL1	606255	6q24-q25
{Stature QTL 20} (2)	STQTL20	612894	13q14.3
{Stature QTL 21} (2)	STQTL21	613440	2q37.1
{Stature QTL 22} (2)	STQTL22	613547	16q24
{Stature QTL 23} (2)	STQTL23	613548	1p32
{Stature QTL 24} (2)	STQTL24	613549	2p16
{Stature QTL 2} (2)	STQTL2	606256	7q31.3
{Stature QTL 3} (2)	STQTL3	606257	12p11.2-q14
{Stature QTL 4} (2)	STQTL4	606258	13q32-q33
{Stature QTL 5} (2)	STQTL5	608982	3p26
{Stature QTL 6} (2)	STQTL6	300591	Xq24-q25
{Stature QTL 7} (2)	STQTL7	609822	1p21
{Stature QTL 8} (2)	STQTL8	610114	9q22
{Stature QTL 9} (2)	STQTL9	611547	12q14.3
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)	HLA-B, SPDA1	142830	6p21.33
{Strabismus, susceptibility to, 1} (2)	STBMS1	185100	7p22.1
{Stroke, hemorrhagic}, 614519 (3)	ACE, DCP1, ACE1, MVCD3, ICH	106180	17q23.3
{Stroke, ischemic, susceptibility to}, 601367 (3)	F2, THPH1, RPRGL2	176930	11p11.2
{Stroke, ischemic, susceptibility to}, 601367 (3)	F5, THPH2, RPRGL1	612309	1q24.2
{Stroke, susceptibility to, 1} (2)	STRK1	606799	5q12
{Stroke, susceptibility to}, 601367 (3)	ALOX5AP, FLAP	603700	13q12.3
{Sublingual nitroglycerin, susceptibility to poor response to} (3)	ALDH2	100650	12q24.12
{Sudden infant death syndrome, susceptibility to}, 272120 (3)	SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2	600163	3p22.2
{Synovitis, chronic, susceptibility to} (3)	HLA-B, SPDA1	142830	6p21.33
{Systemic lupus erythematosus susceptibility to}, 152700 (3)	PTPN22, PEP, PTPN8, LYP	600716	1p13.2
{Systemic lupus erythematosus with hemolytic anemia} (2)	SLEH1	607279	11q14
{Systemic lupus erythematosus with nephritis, susceptibility to, 1} (2)	SLEN1	607965	10q22.3
{Systemic lupus erythematosus with nephritis, susceptibility to, 2} (2)	SLEN2	607966	2q34-q35
{Systemic lupus erythematosus with nephritis, susceptibility to, 3} (2)	SLEN3	607967	11p15.5
{Systemic lupus erythematosus, resistance to}, 601744 (3)	TLR5, TIL3, SLEB1, MELIOS	603031	1q41
{Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)	IRF5, IBD14, SLEB10	607218	7q32.1
{Systemic lupus erythematosus, susceptibility to, 11}, 612253 (3)	STAT4, SLEB11	600558	2q32.2-q32.3
{Systemic lupus erythematosus, susceptibility to, 12} (2)	SLEB12	612254	8p23.1
{Systemic lupus erythematosus, susceptibility to, 13} (2)	SLEB13	612378	6q23
{Systemic lupus erythematosus, susceptibility to, 14} (2)	SLEB14	613145	1q21-q23
{Systemic lupus erythematosus, susceptibility to, 15} (2)	SLEB15	300809	Xq28
{Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3)	TLR5, TIL3, SLEB1, MELIOS	603031	1q41
{Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3)	PDCD1, SLEB2	600244	2q37.3
{Systemic lupus erythematosus, susceptibility to, 3} (2)	SLEB3	605480	4p16-p15.2
{Systemic lupus erythematosus, susceptibility to, 4} (2)	SLEB4	608437	12q24
{Systemic lupus erythematosus, susceptibility to, 5} (2)	SLEB5	609903	13q32
{Systemic lupus erythematosus, susceptibility to, 6} (2)	SLEB6	609939	16p12.3-q12.2
{Systemic lupus erythematosus, susceptibility to, 7} (2)	SLEB7	610065	20p12
{Systemic lupus erythematosus, susceptibility to, 8} (2)	SLEB8	610066	20q13
{Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3)	CR2, C3DR, SLEB9, CVID7	120650	1q32.2
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)	CTLA4, IDDM12, CELIAC3, ALPS5	123890	2q33.2
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)	DNASE1, DNL1	125505	16p13.3
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)	FCGR2B, CD32	604590	1q23.3
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)	TREX1, AGS1, CRV, HERNS, RVCLS	606609	3p21.31
{T-cell acute lymphoblastic leukemia} (3)	MYB	189990	6q23.3
{TSC2 angiomyolipomas, renal, modifier of}, 613254 (3)	IFNG, IFG, IFI, IMD69	147570	12q15
{Thiopurines, poor metabolism of, 1}, 610460 (3)	TPMT, TPMTD	187680	6p22.3
{Thiopurines, poor metabolism of, 2}, 616903 (3)	NUDT15, MTH2, NUDT15D	615792	13q14.2
{Thromboembolism, susceptibility to}, 188050 (3)	MTHFR	607093	1p36.22
{Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)	F5, THPH2, RPRGL1	612309	1q24.2
{Thyroid cancer, nonmedullary, 1}, 188550 (3)	NKX2-1, TITF1, NKX2A, TTF1, NMTC1	600635	14q13.3
{Thyroid cancer, nonmedullary, 2}, 188470 (3)	SRGAP1, KIAA1304, NMTC2	606523	12q14.2
{Thyroid cancer, nonmedullary, 4}, 616534 (3)	FOXE1, FKHL15, TITF2, TTF2, NMTC4	602617	9q22.33
{Thyroid carcinoma, Hurthle cell}, 607464 (3)	NDUFA13, GRIM19, MC1DN28	609435	19p13.11
{Thyroid carcinoma, follicular}, 188470 (3)	MINPP1, HIPER1, PCH16	605391	10q23.2
{Thyroid carcinoma, nonmedullary, 3} (2)	NMTC3	606240	2q21
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)	CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1, MHS5	114208	1q32.1
{Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3)	KCNJ18, KIR2.6, TTPP2	613236	17p11.2
{Thyrotoxic periodic paralysis, susceptibility to, 3} (2)	TTPP3	614834	17q24.3
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)	HLA-B, SPDA1	142830	6p21.33
{Transcription of plasminogen activator inhibitor, modulator of} (3)	PAI1, PLANH1, SERPINE1	173360	7q22.1
{Tuberculosis infection, protection against}, 607948 (3)	IFNGR1, IMD27A, IMD27B	107470	6q23.3
{Tuberculosis, protection against}, 607948 (3)	IFNG, IFG, IFI, IMD69	147570	12q15
{Tuberculosis, protection against}, 607948 (3)	TIRAP, BACTS1	606252	11q24.2
{Tuberculosis, susceptibility to} (2)	MTBS1	607949	2q35
{Tuberculosis, susceptibility to}, 607948 (3)	CISH, BACTS2	602441	3p21.2
{Tuberculosis, susceptibility to}, 607948 (3)	IFNGR1, IMD27A, IMD27B	107470	6q23.3
{Type 1 diabetes mellitus}, 222100 (3)	IL6, IFNB2, BSF2, HSF, HGF	147620	7p15.3
{Type 2 diabetes mellitus 3} (2)	T2D3	603694	20q12-q13.1
{Type 2 diabetes mellitus, susceptibility to}, 125853 (3)	GPD2	138430	2q24.1
{Type 2 diabetes mellitus, susceptibility to}, 125853 (3)	HMGA1, HMGIY	600701	6p21.31
{Type 2 diabetes mellitus, susceptibility to}, 125853 (3)	IRS1	147545	2q36.3
{Type 2 diabetes mellitus, susceptibility to}, 125853 (3)	NEUROD1, T2D	601724	2q31.3
{Type 2 diabetes mellitus}, 125853 (3)	IL6, IFNB2, BSF2, HSF, HGF	147620	7p15.3
{UV-induced skin damage}, 266300 (3)	MC1R, SHEP2, CMM5	155555	16q24.3
{Unipolar depression, susceptibility to}, 608516 (3)	TPH2, NTPH, ADHD7	607478	12q21.1
{Uric acid concentration, serum, QTL 2}, 612076 (3)	SLC2A9, GLUT9, UAQTL2	606142	4p16.1
{Vascular disease, susceptibility to} (3)	MTHFR	607093	1p36.22
{Venous thromboembolism, susceptibility to}, 188050 (3)	HABP2, PHBP, HGFAL, FSAP, NMTC5	603924	10q25.3
{Venous thrombosis, protection against}, 188050 (3)	F13A1, F13A	134570	6p25.1
{Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)	DPP6, VF2, MRD33	126141	7q36.2
{Vitamin B12 plasma level QTL1}, 612542 (3)	FUT2, SE, B12QTL1	182100	19q13.33
{Vitamin B6 plasma level QTL 1} (2)	B6QTL1	612957	1p36.12
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)	NLRP1, NALP1, KIAA0926, DEFCAP, CARD7, VAMAS1, MSPC, AIADK, JRRP	606636	17p13.2
{Vitiligo-associated multiple autoimmune disease susceptibility 6} (2)	VAMAS6	193200	6p21.3
{Warfarin sensitivity}, 301052 (3)	F9, HEMB, THPH8	300746	Xq27.1
{West nile virus, susceptibility to}, 610379 (3)	CCR5, CMKBR5, CCCKR5, IDDM22	601373	3p21.31
{Wilms tumor 6, susceptibility to}, 616806 (3)	REST, NRSF, WT6, GINGF5, HGF5, DFNA27	600571	4q12
{Wilms tumor susceptibility-5}, 601583 (3)	POU6F2, WTSL, WT5	609062	7p14.1
{Yao syndrome}, 617321 (3)	NOD2, CARD15, IBD1, CD, YAOS, BLAUS	605956	16q12.1
{von Hippel-Lindau syndrome, modifier of}, 193300 (3)	CCND1, PRAD1, BCL1	168461	11q13.3
#
#
#
#
# Phenotypes :
# ------------
#
# Each Phenotype is followed by its MIM number, if different from that
# of the locus/gene, and then followed by its phenotype mapping
# key in parentheses (explanation below).
#
#
# Phenotype Mapping key - Appears in parentheses after a disorder :
# -----------------------------------------------------------------
#
# 1 - The disorder is placed on the map based on its association with
# a gene, but the underlying defect is not known.
# 2 - The disorder has been placed on the map by linkage or other
# statistical method; no mutation has been found.
# 3 - The molecular basis for the disorder is known; a mutation has been
# found in the gene.
# 4 - A contiguous gene deletion or duplication syndrome, multiple genes
# are deleted or duplicated causing the phenotype.
#