MIM264300	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	3293
MIM300438	17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY	3028
MIM610006	2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	36
MIM201810	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF	3284
MIM246450	3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD	3155
MIM605911	3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2 DEFICIENCY	3158
MIM231530	3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY	3033
MIM210200	3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY	56922
MIM210210	3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY	64087
MIM250950	3-@METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1	549
MIM258501	3-@METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3	80207
MIM610198	3-@METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5	131118
MIM400045	46,XX SEX REVERSAL 1; SRXX1	6736
MIM611812	46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; SERKAL	54361
MIM607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY	50846
MIM400044	46,XY SEX REVERSAL 1; SRXY1	6736
MIM300018	46,XY SEX REVERSAL 2; SRXY2	190
MIM612965	46,XY SEX REVERSAL 3; SRXY3	2516
MIM613080	46,XY SEX REVERSAL 5; SRXY5	84733
MIM613762	46,XY SEX REVERSAL 6; SRXY6	4214
MIM233420	46,XY SEX REVERSAL 7; SRXY7	50846
MIM614279	46,XY SEX REVERSAL 8; SRXY8	1109, 1646
MIM305400	AARSKOG-SCOTT SYNDROME; AAS	2245
MIM600501	ABCD SYNDROME; ABCDS	1910
MIM605552	ABDOMINAL OBESITY-METABOLIC SYNDROME	4547
MIM200100	ABETALIPOPROTEINEMIA; ABL	4547
MIM614097	ACATALASEMIA	847
MIM604290	ACERULOPLASMINEMIA	1356
MIM243400	ACETYLATION, SLOW	10
MIM613933	ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD	31
MIM231550	ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS	8086
MIM200500	ACHEIROPODY	64327
MIM200600	ACHONDROGENESIS, TYPE IA; ACG1A	9321
MIM600972	ACHONDROGENESIS, TYPE IB; ACG1B	1836
MIM200610	ACHONDROGENESIS, TYPE II; ACG2	1280
MIM100800	ACHONDROPLASIA; ACH	2261
MIM216900	ACHROMATOPSIA 2; ACHM2	1261
MIM262300	ACHROMATOPSIA 3; ACHM3	54714
MIM613856	ACHROMATOPSIA 4; ACHM4	2780
MIM142690	ACNE INVERSA, FAMILIAL, 1; ACNINV1	23385
MIM613736	ACNE INVERSA, FAMILIAL, 2; ACNINV2	55851
MIM613737	ACNE INVERSA, FAMILIAL, 3; ACNINV3	5663
MIM200990	ACROCALLOSAL SYNDROME; ACLS	374654, 2737
MIM607778	ACROCAPITOFEMORAL DYSPLASIA; ACFD	3549
MIM201100	ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ	55630
MIM101800	ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1	5573
MIM101900	ACROKERATOSIS VERRUCIFORMIS; AKV	488
MIM201250	ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE	8200
MIM602875	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM	4882
MIM102370	ACROMICRIC DYSPLASIA; ACMICD	2200
MIM201400	ACTH DEFICIENCY, ISOLATED; IAD	1392, 9095
MIM612376	ACUTE PROMYELOCYTIC LEUKEMIA; APL	5914
MIM611126	ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF	28976
MIM201450	ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD	34
MIM201470	ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD	35
MIM201475	ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD	37
MIM614219	ADAMS-OLIVER SYNDROME 2; AOS2	57572
MIM102900	ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES	5313
MIM612631	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	203
MIM103050	ADENYLOSUCCINASE DEFICIENCY	158
MIM136000	ADERMATOGLYPHIA; ADERM	56916
MIM612556	ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1	9370
MIM202110	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY	1586
MIM201910	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	1589
MIM202010	ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY	1584
MIM300200	ADRENAL HYPOPLASIA, CONGENITAL; AHC	190
MIM613743	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE	1583
MIM202300	ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC	7491, 7157
MIM202370	ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM	5189, 5192, 5194, 55670, 5830
MIM300100	ADRENOLEUKODYSTROPHY; ALD	215
MIM103285	ADULT SYNDROME	8626
MIM604348	ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL	8864
MIM202400	AFIBRINOGENEMIA, CONGENITAL	2243, 2244
MIM601495	AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1	3507
MIM613500	AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2	3543
MIM613501	AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3	973
MIM613502	AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4	29760
MIM613506	AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5	56262
MIM612692	AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE; AGM6	974
MIM300755	AGAMMAGLOBULINEMIA, X-LINKED; XLA	695
MIM218000	AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN	9990
MIM202650	AGNATHIA-OTOCEPHALY COMPLEX; AGOTC	5396
MIM608688	AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY	471
MIM225750	AICARDI-GOUTIERES SYNDROME 1; AGS1	11277
MIM610181	AICARDI-GOUTIERES SYNDROME 2; AGS2	79621
MIM610329	AICARDI-GOUTIERES SYNDROME 3; AGS3	84153
MIM610333	AICARDI-GOUTIERES SYNDROME 4; AGS4	10535
MIM612952	AICARDI-GOUTIERES SYNDROME 5; AGS5	25939
MIM118450	ALAGILLE SYNDROME 1; ALGS1	182
MIM610205	ALAGILLE SYNDROME 2; ALGS2	4853
MIM300600	ALAND ISLAND EYE DISEASE; AIED	778
MIM300500	ALBINISM, OCULAR, TYPE I; OA1	4935
MIM103470	ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS	7299, 4286
MIM203100	ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A	7299
MIM606952	ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B	7299
MIM203200	ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2	4157, 4948
MIM203290	ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3	7306
MIM606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4	51151
MIM103780	ALCOHOL DEPENDENCE	3356, 125, 126, 50833, 55213, 2555
MIM610251	ALCOHOL SENSITIVITY, ACUTE	217
MIM203450	ALEXANDER DISEASE	2670, 4723
MIM203500	ALKAPTONURIA	3081
MIM300523	ALLAN-HERNDON-DUDLEY SYNDROME; AHDS	6567
MIM607154	ALLERGIC RHINITIS	3596, 2302
MIM203655	ALOPECIA UNIVERSALIS CONGENITA; ALUNC	55806
MIM612421	ALOPECIA, ANDROGENETIC, 3; AGA3	100270679, 100628314
MIM612079	ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME	55131
MIM609889	ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY	5896
MIM613490	ALPHA-1-ANTITRYPSIN DEFICIENCY	5265
MIM614036	ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD	2
MIM262850	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	5345
MIM203740	ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY	4967
MIM203750	ALPHA-METHYLACETOACETIC ACIDURIA	38
MIM614307	ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD	23600
MIM604131	ALPHA-THALASSEMIA	387281, 3039, 3040, 3043
MIM300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS	546
MIM301040	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX	546
MIM203780	ALPORT SYNDROME, AUTOSOMAL RECESSIVE	1285, 1286
MIM301050	ALPORT SYNDROME, X-LINKED; ATS	1287
MIM203800	ALSTROM SYNDROME; ALMS	7840
MIM104290	ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1	477
MIM265380	ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; ACDMPV	1373, 2294
MIM606243	ALVEOLAR SOFT PART SARCOMA; ASPS	79058
MIM104310	ALZHEIMER DISEASE 2	348
MIM607822	ALZHEIMER DISEASE 3	5663
MIM606889	ALZHEIMER DISEASE 4	5664
MIM104300	ALZHEIMER DISEASE; AD	4353, 2, 3077, 450086, 323, 64851, 351, 1636, 353128, 780912, 642, 8081, 22976, 5328, 4846, 6653
MIM604498	AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT	4352
MIM614253	AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME; AIGFS	54757
MIM204700	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1	9313, 9622
MIM612529	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2	9313
MIM613211	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3; AI2A3	256764
MIM104500	AMELOGENESIS IMPERFECTA, TYPE IB; AI1B	10117
MIM204650	AMELOGENESIS IMPERFECTA, TYPE IC; AI1C	10117
MIM301200	AMELOGENESIS IMPERFECTA, TYPE IE; AI1E	265
MIM130900	AMELOGENESIS IMPERFECTA, TYPE III; AI3	286077
MIM104510	AMELOGENESIS IMPERFECTA, TYPE IV; AI4	1747
MIM609924	AMINOACYLASE 1 DEFICIENCY	95
MIM609056	AMISH INFANTILE EPILEPSY SYNDROME	8869
MIM300194	AMME COMPLEX	9949
MIM105200	AMYLOIDOSIS, FAMILIAL VISCERAL	335, 2243, 4069
MIM105120	AMYLOIDOSIS, FINNISH TYPE	2934
MIM105210	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	7276
MIM105250	AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1	9180
MIM613955	AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2; PLCA2	133396
MIM105400	AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1	283, 1639, 4744, 6647, 5630
MIM612069	AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS10	23435
MIM612577	AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11	9896
MIM613435	AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12	10133
MIM613954	AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS14	7415
MIM300857	AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS15	29978
MIM205100	AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2	57679
MIM602433	AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4	23064
MIM608030	AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS6	2521
MIM608627	AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8	9217
MIM611895	AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9	283
MIM105500	AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1	54822
MIM162100	AMYOTROPHY, HEREDITARY NEURALGIC; HNA	10801
MIM607095	ANAUXETIC DYSPLASIA	6023
MIM170390	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS	3759
MIM300068	ANDROGEN INSENSITIVITY SYNDROME; AIS	367
MIM312300	ANDROGEN INSENSITIVITY, PARTIAL; PAIS	367
MIM224120	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I; CDAN1	146059
MIM224100	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2	10483
MIM613673	ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; CDAN4	10661
MIM206100	ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD	4891
MIM301310	ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT	22
MIM205950	ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE	51218, 54977
MIM300751	ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA	212
MIM105830	ANGELMAN SYNDROME; AS	4204, 6792, 7337
MIM106100	ANGIOEDEMA, HEREDITARY, TYPE I; HAE1	710
MIM610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3	2161
MIM611773	ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS; HANAC	1282
MIM614081	ANHAPTOGLOBINEMIA; AHP	3240
MIM206700	ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION	5080
MIM106210	ANIRIDIA; AN	5080
MIM106260	ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	8626
MIM613726	ANOCTAMIN 10; ANO10	5473
MIM606788	ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1; ANON1	3356, 627
MIM107250	ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD	5309, 2301
MIM613118	ANTITHROMBIN III DEFICIENCY; AT3D	462
MIM201750	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1	5447
MIM207410	ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2	2260, 2263
MIM607834	ANXIETY	6532
MIM132900	AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4	4629
MIM611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6	59
MIM613780	AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7	4638
MIM109730	AORTIC VALVE DISEASE 1; AOVD1	4851
MIM101200	APERT SYNDROME	2263
MIM610256	APHAKIA, CONGENITAL PRIMARY	2301
MIM180920	APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG	2255
MIM609135	APLASTIC ANEMIA	7012, 7015, 3458
MIM117800	APOCRINE GLAND SECRETION, VARIATION IN	85320
MIM207750	APOLIPOPROTEIN C-II DEFICIENCY	344
MIM218030	APPARENT MINERALOCORTICOID EXCESS; AME	3291
MIM612718	ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY	2628
MIM207800	ARGININEMIA	383
MIM207900	ARGININOSUCCINIC ACIDURIA	435
MIM613546	AROMATASE DEFICIENCY	1588
MIM139300	AROMATASE EXCESS SYNDROME; AEXS	1588
MIM608643	AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY	1644
MIM107970	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1	7043
MIM610193	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10	1829
MIM610476	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11	1824
MIM611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12	3728
MIM600996	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2	6262
MIM604400	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5	79188
MIM607450	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8	1832
MIM609040	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9	5318
MIM208000	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1	5167
MIM208050	ARTERIAL TORTUOSITY SYNDROME; ATS	81031
MIM108010	ARTERIOVENOUS MALFORMATIONS OF THE BRAIN	3569
MIM108120	ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A	7169
MIM193700	ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A	4621
MIM601680	ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B	7169, 4621, 7136, 7140
MIM158300	ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7	4626
MIM121050	ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9	2201
MIM208085	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1	26276
MIM613404	ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2	63894
MIM208230	ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC	8838
MIM301835	ARTS SYNDROME; ARTS	5631
MIM208400	ASPARTYLGLUCOSAMINURIA; AGU	175
MIM300494	ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1; ASPGX1	54413
MIM300497	ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2	57502
MIM614079	ASPERGILLOSIS, SUSCEPTIBILITY TO	64581
MIM611263	ASPHYXIATING THORACIC DYSTROPHY 2; ATD2	57560
MIM613091	ASPHYXIATING THORACIC DYSTROPHY 3; ATD3	79659
MIM613819	ASPHYXIATING THORACIC DYSTROPHY 4; ATD4	79809
MIM208550	ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE	30009, 5732
MIM600807	ASTHMA, SUSCEPTIBILITY TO	7941, 3593, 3596, 3135, 3176, 154, 117156, 51131, 7356, 6356, 7124, 4589, 240
MIM607277	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1	5729
MIM608584	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2	387129
MIM611064	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5	11213
MIM611960	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7	1116
MIM208920	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH	54840
MIM208900	ATAXIA-TELANGIECTASIA; AT	472
MIM604391	ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD	4361
MIM108720	ATELOSTEOGENESIS, TYPE I; AOI	2317
MIM256050	ATELOSTEOGENESIS, TYPE II; AOII	1836
MIM108721	ATELOSTEOGENESIS, TYPE III; AOIII	2317
MIM601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS	3198
MIM209300	ATRANSFERRINEMIA	7018
MIM608583	ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1	2702
MIM614022	ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10	6331
MIM614049	ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11	2702
MIM614050	ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12	10060
MIM607554	ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3	9992, 3784
MIM611493	ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4	9992
MIM612201	ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6	4878
MIM612240	ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7	3741
MIM613980	ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9	3759
MIM607941	ATRIAL SEPTAL DEFECT 2; ASD2	2626
MIM614089	ATRIAL SEPTAL DEFECT 3; ASD3	4624
MIM611363	ATRIAL SEPTAL DEFECT 4; ASD4	57057
MIM612794	ATRIAL SEPTAL DEFECT 5; ASD5	70
MIM613087	ATRIAL SEPTAL DEFECT 6; ASD6	7092
MIM108900	ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; ASD7	1482
MIM108770	ATRIAL STANDSTILL	2702
MIM209500	ATRICHIA WITH PAPULAR LESIONS; APL	55806
MIM600309	ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3	2697
MIM606217	ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2	78987
MIM613003	ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7	121278
MIM143465	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD	1815, 1816, 450087, 450088, 450089, 450090, 6531
MIM209950	ATYPICAL MYCOBACTERIOSIS, FAMILIAL	3593, 3594, 6772, 3459, 3460
MIM300636	ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1; AMCBX1	8517
MIM300645	ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2; AMCBX2	1536
MIM609129	AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1	7046, 81624
MIM209850	AUTISM	9378, 2739
MIM611016	AUTISM, SUSCEPTIBILITY TO, 10; AUTS10	2020
MIM612100	AUTISM, SUSCEPTIBILITY TO, 15; AUTS15	26047
MIM613410	AUTISM, SUSCEPTIBILITY TO, 16; AUTS16	285195
MIM613436	AUTISM, SUSCEPTIBILITY TO, 17; AUTS17	22941
MIM611015	AUTISM, SUSCEPTIBILITY TO, 9; AUTS9	4233
MIM300425	AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1	54413
MIM300495	AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2	57502
MIM300496	AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3	4204
MIM300847	AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5	6134
MIM607836	AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1	27022
MIM613551	AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6	54414
MIM613385	AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM	83737
MIM603909	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A	843
MIM601859	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS	355
MIM240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1	326
MIM608175	AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3	57623, 7038
MIM256040	AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD	5696
MIM608805	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY	1280
MIM180500	AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1	5308
MIM602482	AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3	2296
MIM218600	BALLER-GEROLD SYNDROME; BGS	9401
MIM251290	BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA; BLCPMG	100506658
MIM153480	BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS	5728
MIM209900	BARDET-BIEDL SYNDROME; BBS	8195, 91147, 80184, 582, 583, 585, 129880, 27241, 51057, 54903, 79738, 84100, 123016, 22954, 55212, 166379
MIM604571	BARE LYMPHOCYTE SYNDROME, TYPE I	6890, 6891, 6892
MIM209920	BARE LYMPHOCYTE SYNDROME, TYPE II	5993, 5994, 4261, 8625
MIM614266	BARRETT ESOPHAGUS	51008, 4481, 115908
MIM302060	BARTH SYNDROME; BTHS	6901
MIM601678	BARTTER SYNDROME, ANTENATAL, TYPE 1	6557
MIM241200	BARTTER SYNDROME, ANTENATAL, TYPE 2	3758
MIM607364	BARTTER SYNDROME, TYPE 3	1188
MIM602522	BARTTER SYNDROME, TYPE 4A	7809, 1187, 1188
MIM613090	BARTTER SYNDROME, TYPE 4B	1187
MIM605462	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1	5921, 5727, 8643
MIM109400	BASAL CELL NEVUS SYNDROME; BCNS	5727
MIM126700	BASAL LAMINAR DRUSEN	3075
MIM123790	BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS	2263
MIM130650	BECKWITH-WIEDEMANN SYNDROME; BWS	1028, 64324, 10984, 283120
MIM169600	BENIGN CHRONIC PEMPHIGUS; BCPM	27032
MIM153670	BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2	2811
MIM231200	BERNARD-SOULIER SYNDROME; BSS	2811, 2812, 2815
MIM611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB	7439
MIM250620	BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY	26275
MIM613985	BETA-THALASSEMIA	3043
MIM603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE	3043
MIM613161	BETA-UREIDOPROPIONASE DEFICIENCY	51733
MIM158810	BETHLEM MYOPATHY	1291, 1292, 1293
MIM210370	BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY	285440
MIM608980	BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR	158326
MIM613291	BILE ACID MALABSORPTION, PRIMARY; PBAM	6555
MIM607765	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1	80270
MIM235555	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2	6718
MIM613812	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3	9420
MIM214950	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4	23600
MIM601816	BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; BILIQTL1	54658
MIM253260	BIOTINIDASE DEFICIENCY	686
MIM613393	BIRBECK GRANULE DEFICIENCY	50489
MIM612292	BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME	51305
MIM135150	BIRT-HOGG-DUBE SYNDROME; BHD	201163
MIM222800	BISPHOSPHOGLYCERATE MUTASE DEFICIENCY	669
MIM262000	BJORNSTAD SYNDROME; BJS	617
MIM109800	BLADDER CANCER	3845, 5925, 100270680, 3265, 2261, 10460
MIM186580	BLAU SYNDROME	64127
MIM614201	BLEEDING DISORDER, PLATELET-TYPE, 11; BDPLT11	51206
MIM614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13	6915
MIM614158	BLEEDING DISORDER, PLATELET-TYPE, 14; BDPLT14	6916
MIM609821	BLEEDING DISORDER, PLATELET-TYPE, 8; BDPLT8	64805
MIM110100	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES	668
MIM606798	BLEPHAROSPASM, BENIGN ESSENTIAL	1816
MIM111250	BLOOD GROUP SYSTEM, LANDSTEINER-WIENER; LW	3386
MIM613793	BLOOD GROUP, CROMER SYSTEM; CROM	1604
MIM110700	BLOOD GROUP, DUFFY SYSTEM; FY	2532
MIM111400	BLOOD GROUP, P SYSTEM	8706, 53947
MIM110450	BLOOD GROUP--COLTON; CO	358
MIM110500	BLOOD GROUP--DIEGO SYSTEM; DI	6521
MIM601551	BLOOD GROUP--FROESE	6521
MIM110800	BLOOD GROUP--I SYSTEM; Ii	2651
MIM110900	BLOOD GROUP--KELL SYSTEM; KEL	3792
MIM111000	BLOOD GROUP--KIDD SYSTEM; JK	6563
MIM111150	BLOOD GROUP--LUTHERAN INHIBITOR; INLU	10661
MIM111200	BLOOD GROUP--LUTHERAN SYSTEM; LU	4059
MIM111380	BLOOD GROUP--OK; OK	682
MIM111750	BLOOD GROUP--SCIANNA SYSTEM; SC	114625
MIM601550	BLOOD GROUP--SWANN SYSTEM; SW	6521
MIM112010	BLOOD GROUP--WALDNER TYPE; WD	6521
MIM112050	BLOOD GROUP--WRIGHT ANTIGEN; WR	6521
MIM210900	BLOOM SYNDROME; BLM	641
MIM303700	BLUE CONE MONOCHROMACY; BCM	5956, 2652, 100534624
MIM300306	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11; BMIQ11	11254
MIM612362	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12	5122
MIM607447	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4; BMIQ4	7351
MIM602025	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9	4159
MIM606641	BODY MASS INDEX; BMI	338026, 192149, 7351, 337895, 449016, 449017
MIM605039	BOHRING-OPITZ SYNDROME; BOPS	171023, 10225
MIM612394	BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	8985
MIM601884	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1	4041
MIM612560	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12; BMND12	254170
MIM613418	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15; BMND15	100422910
MIM112310	BOOMERANG DYSPLASIA	2317
MIM301900	BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS	84295
MIM607475	BOTHNIA RETINAL DYSTROPHY	6017
MIM211180	BOWEN-CONRADI SYNDROME; BWCNS	10436
MIM112500	BRACHYDACTYLY, TYPE A1; BDA1	3549, 246260
MIM112600	BRACHYDACTYLY, TYPE A2; BDA2	8200, 650, 658
MIM113000	BRACHYDACTYLY, TYPE B1; BDB1	4920
MIM611377	BRACHYDACTYLY, TYPE B2; BDB2	9241
MIM113100	BRACHYDACTYLY, TYPE C; BDC	8200
MIM113200	BRACHYDACTYLY, TYPE D; BDD	3239
MIM113300	BRACHYDACTYLY, TYPE E1; BDE1	3239
MIM613382	BRACHYDACTYLY, TYPE E2; BDE2	5744
MIM600430	BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR	9759
MIM610713	BRACHYDACTYLY-SYNDACTYLY SYNDROME	3239
MIM113500	BRACHYOLMIA TYPE 3	59341
MIM607595	BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE	1282
MIM113620	BRANCHIOOCULOFACIAL SYNDROME; BOFS	7020
MIM608389	BRANCHIOOTIC SYNDROME 3; BOS3	6495
MIM113650	BRANCHIOOTORENAL SYNDROME 1; BOR1	2138
MIM610896	BRANCHIOOTORENAL SYNDROME 2; BOR2	147912
MIM114480	BREAST CANCER	5888, 3845, 83990, 8493, 580, 841, 3161, 7517, 9821, 79728, 5245, 5002, 672, 675, 5290, 11200, 207, 472, 4835, 999, 7157, 8438
MIM604370	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1	4978, 2956, 672, 5290, 207, 5071
MIM612555	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2	675
MIM613399	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3	5889
MIM614291	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4; BROVCA4	5892
MIM229200	BRITTLE CORNEA SYNDROME 1; BCS1	84627
MIM614170	BRITTLE CORNEA SYNDROME 2; BCS2	11107
MIM601003	BRODY MYOPATHY	487
MIM211400	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1	1080, 6338
MIM613021	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2	6337
MIM613071	BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3	6340
MIM605041	BROOKE-SPIEGLER SYNDROME; BRSS	1540
MIM211530	BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1	113278
MIM609220	BRUCK SYNDROME 2; BRKS2	5352
MIM601144	BRUGADA SYNDROME 1; BRGDA1	6331
MIM611777	BRUGADA SYNDROME 2; BRGDA2	23171
MIM611875	BRUGADA SYNDROME 3; BRGDA3	775
MIM611876	BRUGADA SYNDROME 4; BRGDA4	783
MIM612838	BRUGADA SYNDROME 5; BRGDA5	6324
MIM613119	BRUGADA SYNDROME 6; BRGDA6	10008
MIM613120	BRUGADA SYNDROME 7; BRGDA7	55800
MIM613123	BRUGADA SYNDROME 8; BRGDA8	10021
MIM300615	BRUNNER SYNDROME	4128
MIM600880	BUDD-CHIARI SYNDROME; BDCHS	2153, 3717
MIM607499	BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1; BULN1	627
MIM610269	BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2; BULN2	627
MIM113970	BURKITT LYMPHOMA; BL	4609
MIM610446	BURULI ULCER, SUSCEPTIBILITY TO	6556
MIM166700	BUSCHKE-OLLENDORFF SYNDROME; BOS	23592
MIM211750	C SYNDROME	10225
MIM613652	C1q DEFICIENCY; C1QD	712, 713, 714
MIM114030	CAFE-AU-LAIT SPOTS, MULTIPLE	4436, 4292
MIM114000	CAFFEY DISEASE	1277
MIM211800	CALCIFICATION OF JOINTS AND ARTERIES; CALJA	4907
MIM114290	CAMPOMELIC DYSPLASIA	6662
MIM610474	CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	2261
MIM208250	CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP	10216
MIM131300	CAMURATI-ENGELMANN DISEASE; CAEND	7040
MIM271900	CANAVAN DISEASE	443
MIM212050	CANDIDIASIS, FAMILIAL, 2; CANDF2	64170
MIM613108	CANDIDIASIS, FAMILIAL, 4; CANDF4	64581
MIM613953	CANDIDIASIS, FAMILIAL, 5; CANDF5	23765
MIM613956	CANDIDIASIS, FAMILIAL, 6; CANDF6	112744
MIM614162	CANDIDIASIS, FAMILIAL, 7; CANDF7	6772
MIM608354	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION	5921
MIM237300	CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO	1373
MIM212070	CARBOXYPEPTIDASE N DEFICIENCY	1369
MIM114900	CARCINOID TUMORS, INTESTINAL	6392
MIM600919	CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED	287
MIM115080	CARDIAC CONDUCTION DEFECT	11216
MIM314400	CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1	2316
MIM604377	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY	9997
MIM115150	CARDIOFACIOCUTANEOUS SYNDROME	3845, 673, 5604, 5605
MIM115200	CARDIOMYOPATHY, DILATED, 1A; CMD1A	4000, 4607
MIM612158	CARDIOMYOPATHY, DILATED, 1AA; CMD1AA	88
MIM612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB	1829
MIM601493	CARDIOMYOPATHY, DILATED, 1C; CMD1C	11155
MIM613122	CARDIOMYOPATHY, DILATED, 1CC; CMD1CC	91624
MIM601494	CARDIOMYOPATHY, DILATED, 1D; CMD1D	7139
MIM613172	CARDIOMYOPATHY, DILATED, 1DD; CMD1DD	282996
MIM601154	CARDIOMYOPATHY, DILATED, 1E; CMD1E	6331
MIM613252	CARDIOMYOPATHY, DILATED, 1EE; CMD1EE	4624
MIM613286	CARDIOMYOPATHY, DILATED, 1FF; CMD1FF	7137
MIM604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G	7273
MIM613642	CARDIOMYOPATHY, DILATED, 1GG; CMD1GG	6389
MIM613881	CARDIOMYOPATHY, DILATED, 1HH; CMD1HH	9531
MIM604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I	1674
MIM605362	CARDIOMYOPATHY, DILATED, 1J; CMD1J	2070
MIM606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L	6444
MIM607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M	8048
MIM607487	CARDIOMYOPATHY, DILATED, 1N; CMD1N	8557
MIM608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O	10060
MIM609909	CARDIOMYOPATHY, DILATED, 1P; CMD1P	5350
MIM613424	CARDIOMYOPATHY, DILATED, 1R; CMD1R	70
MIM613426	CARDIOMYOPATHY, DILATED, 1S; CMD1S	4625
MIM613740	CARDIOMYOPATHY, DILATED, 1T; CMD1T	7112
MIM613694	CARDIOMYOPATHY, DILATED, 1U; CMD1U	5663
MIM613697	CARDIOMYOPATHY, DILATED, 1V; CMD1V	5664
MIM611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W	7414
MIM611615	CARDIOMYOPATHY, DILATED, 1X; CMD1X	2218
MIM611878	CARDIOMYOPATHY, DILATED, 1Y; CMD1Y	7168
MIM611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z	7134
MIM611880	CARDIOMYOPATHY, DILATED, 2A; CMD2A	7137
MIM302045	CARDIOMYOPATHY, DILATED, 3B; CMD3B	1756
MIM212112	CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM	4000
MIM605676	CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA	1832
MIM192600	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1	4624, 4625, 291, 70, 859, 85366, 7134
MIM608758	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10	4633
MIM612098	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11	70
MIM612124	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12	8048
MIM613243	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13; CMH13	7134
MIM613251	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14; CMH14	4624
MIM613255	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15; CMH15	7414
MIM613838	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16; CMH16	51778
MIM613873	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17	57158
MIM613874	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18	5350
MIM613875	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19; CMH19	125972
MIM115195	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2	7139
MIM613876	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20; CMH20	91624
MIM115196	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3	7168
MIM115197	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4	4607
MIM600858	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6	51422
MIM613690	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7	7137
MIM608751	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8	4634
MIM613765	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9	7273
MIM115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1	7137
MIM612422	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3	7139
MIM608837	CARNEY COMPLEX VARIANT	4626
MIM160980	CARNEY COMPLEX, TYPE 1; CNC1	5573
MIM212140	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP	6584
MIM255120	CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY	1374
MIM600649	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	1376
MIM255110	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	1376
MIM608836	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	1376
MIM212138	CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY	788
MIM609338	CAROTID INTIMAL MEDIAL THICKNESS 1	5468
MIM115430	CARPAL TUNNEL SYNDROME; CTS1	7276
MIM201000	CARPENTER SYNDROME	51715
MIM250250	CARTILAGE-HAIR HYPOPLASIA; CHH	6023
MIM607271	CASPASE 8 DEFICIENCY	841
MIM613020	CATARACT, AGE-RELATED CORTICAL, 2; ARCC2	10306, 1969
MIM604219	CATARACT, AUTOSOMAL DOMINANT	4284, 5080, 8419
MIM611597	CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1	8419
MIM610019	CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2; CATC2	79443
MIM613887	CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 4; CATC4	23424
MIM609741	CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2; CATCN2	1417
MIM611544	CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3	1414
MIM212500	CATARACT, CONGENITAL OR JUVENILE	2651
MIM600881	CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS	1411
MIM601547	CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2	1415
MIM608983	CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3	1421
MIM302200	CATARACT, CONGENITAL, X-LINKED; CXN	4810
MIM604307	CATARACT, COPPOCK-LIKE; CCL	1415, 1420
MIM611391	CATARACT, CORTICAL, JUVENILE-ONSET	631
MIM115700	CATARACT, CRYSTALLINE ACULEIFORM	1421
MIM612018	CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA	387700
MIM116800	CATARACT, LAMELLAR	3299
MIM610425	CATARACT, LAMELLAR 2	1413
MIM601286	CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT	1421
MIM613763	CATARACT, POSTERIOR POLAR, 2; CTPP2	1410
MIM605387	CATARACT, POSTERIOR POLAR, 3; CTPP3	128866
MIM610623	CATARACT, POSTERIOR POLAR, 4; CTPP4	5309
MIM610202	CATARACT, PULVERULENT, JUVENILE-ONSET	4094
MIM607133	CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES	1415
MIM116200	CATARACT, ZONULAR PULVERULENT 1; CZP1	2703
MIM601885	CATARACT, ZONULAR PULVERULENT 3; CZP3	2700
MIM116150	CATARACT-MICROCORNEA SYNDROME	2703
MIM607864	CAUDAL DUPLICATION ANOMALY	8312
MIM612300	CD59 DEFICIENCY	966
MIM608957	CD8 DEFICIENCY, FAMILIAL	925
MIM612011	CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13	10019
MIM609755	CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3	1493
MIM609753	CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4	4650
MIM212750	CELIAC DISEASE; CD	3117, 3119
MIM212780	CENANI-LENZ SYNDACTYLY SYNDROME; CLSS	4038
MIM117000	CENTRAL CORE DISEASE OF MUSCLE	6261
MIM209880	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS	5979, 2668, 627, 1908, 429, 8929
MIM601238	CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY	85300
MIM224050	CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1	7436
MIM613227	CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3	767
MIM605714	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED	351
MIM105150	CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED	1471
MIM176500	CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1	9445
MIM117300	CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2	9445
MIM125310	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL	4854
MIM603284	CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2	83605
MIM603285	CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3	11235
MIM116860	CEREBRAL CAVERNOUS MALFORMATIONS; CCM	889
MIM609528	CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME	9342
MIM603513	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1	2571
MIM612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2	23189
MIM214150	CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1	2073, 2074
MIM610756	CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2	2068
MIM610758	CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4	2067
MIM213700	CEREBROTENDINOUS XANTHOMATOSIS; CTX	1593
MIM256730	CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1	5538
MIM610127	CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10	1509
MIM204500	CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2	1200
MIM204200	CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3	1201
MIM204300	CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A	54982
MIM162350	CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B	80331
MIM256731	CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5	1203
MIM601780	CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6	54982
MIM610951	CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7	256471
MIM610003	CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT	2055
MIM600143	CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8	2055
MIM603956	CERVICAL CANCER	2261
MIM275630	CHANARIN-DORFMAN SYNDROME; CDS	51099
MIM169100	CHAR SYNDROME	7021
MIM118300	CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS	5376
MIM118210	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1	23095
MIM609260	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2	9927
MIM600882	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B	7879
MIM605588	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; CMT2B1	4000
MIM605589	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2	81857
MIM601472	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D	2617
MIM607684	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E	4747
MIM606595	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F	3315
MIM607677	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I	4359
MIM607736	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; CMT2J	4359
MIM607831	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K	54332
MIM608673	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L	26353
MIM613287	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N	16
MIM614228	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O	1778
MIM607706	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE	54332
MIM118220	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A	5376
MIM118200	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B	4359
MIM601098	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C	9516
MIM607678	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D	1959
MIM607734	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F	4747
MIM606482	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB	1785
MIM608323	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC	8565
MIM607791	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D; CMTDID	4359
MIM608340	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA	54332
MIM613641	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB	3735
MIM214400	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A	54332
MIM601382	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1	8898
MIM604563	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2	81846
MIM601596	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C	79628
MIM601455	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D	10397
MIM609311	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H	121512
MIM611228	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J	9896
MIM302800	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1	2705
MIM311070	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5	5631
MIM214800	CHARGE SYNDROME	55636, 9723
MIM214500	CHEDIAK-HIGASHI SYNDROME; CHS	1130
MIM118400	CHERUBISM	6452
MIM610448	CHILBLAIN LUPUS 1; CHBL1	11277
MIM614122	CHITOTRIOSIDASE DEFICIENCY; CHITD	1118
MIM613611	CHOANAL ATRESIA AND LYMPHEDEMA	5784
MIM243300	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1	5205
MIM605479	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2	8647
MIM147480	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP	5244
MIM211600	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1	5205
MIM601847	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2	8647
MIM602347	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3	5244
MIM118600	CHONDROCALCINOSIS 2; CCAL2	56172
MIM302950	CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1	415
MIM302960	CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2	10682
MIM614078	CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE	54928
MIM609441	CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES	658
MIM215045	CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD	5745
MIM200700	CHONDRODYSPLASIA, GREBE TYPE	8200
MIM215300	CHONDROSARCOMA	2131
MIM612237	CHONDROSARCOMA, EXTRASKELETAL MYXOID	8013, 10342, 8148
MIM118700	CHOREA, BENIGN HEREDITARY; BHC	7080
MIM200150	CHOREOACANTHOCYTOSIS; CHAC	23230
MIM610978	CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS	7080
MIM613105	CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2	5961
MIM303100	CHOROIDEREMIA; CHM	1121
MIM612242	CHROMOSOME 10q23 DELETION SYNDROME	5728, 657
MIM606232	CHROMOSOME 22q13.3 DELETION SYNDROME	85358
MIM153550	CHROMOSOME 5q DELETION SYNDROME	6208, 3659
MIM612863	CHROMOSOME 6q24-q25 DELETION SYNDROME	23118
MIM300578	CHROMOSOME Xp11.3 DELETION SYNDROME	6102
MIM246700	CHYLOMICRON RETENTION DISEASE; CMRD	51128
MIM244400	CILIARY DYSKINESIA, PRIMARY, 1; CILD1	27019
MIM612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10	55172
MIM612649	CILIARY DYSKINESIA, PRIMARY, 11; CILD11	345895
MIM612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12	221421
MIM613193	CILIARY DYSKINESIA, PRIMARY, 13; CILD13	123872
MIM613807	CILIARY DYSKINESIA, PRIMARY, 14; CILD14	339829
MIM613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15	55036
MIM614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16	83544
MIM608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3	1767
MIM610852	CILIARY DYSKINESIA, PRIMARY, 6; CILD6	51314
MIM611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7	8701
MIM612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9	64446
MIM607115	CINCA SYNDROME; CINCA	114548
MIM215600	CIRRHOSIS, FAMILIAL	3856, 3875
MIM215700	CITRULLINEMIA, CLASSIC	445
MIM603471	CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2	10165
MIM605814	CITRULLINEMIA, TYPE II, NEONATAL-ONSET	10165
MIM300831	CK SYNDROME	50814
MIM225060	CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1	5818
MIM119540	CLEFT PALATE, ISOLATED; CPI	23314, 7314
MIM303400	CLEFT PALATE, X-LINKED; CPX	50945
MIM119600	CLEIDOCRANIAL DYSPLASIA; CCD	860
MIM119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF	5307
MIM216360	COACH SYNDROME	91147, 23322, 57545
MIM216400	COCKAYNE SYNDROME, TYPE A; CSA	1161
MIM133540	COCKAYNE SYNDROME, TYPE B; CSB	2074
MIM613630	COCOON SYNDROME	1147
MIM607426	COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1	57107, 23590, 54840, 27235, 56997, 57017
MIM612016	COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4	56997
MIM303600	COFFIN-LOWRY SYNDROME; CLS	6197
MIM216550	COHEN SYNDROME; COH1	157680
MIM272430	COLD-INDUCED SWEATING SYNDROME 1; CISS1	9244
MIM610313	COLD-INDUCED SWEATING SYNDROME 2; CISS2	23529
MIM120430	COLOBOMA OF OPTIC NERVE	5080
MIM120200	COLOBOMA, OCULAR	392255, 6469, 5080
MIM303800	COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD	2652
MIM303900	COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP	5956
MIM609310	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2	4292
MIM613244	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8; HNPCC8	4072
MIM608812	COLORECTAL CANCER, SUSCEPTIBILITY TO, 1; CRCS1	79695
MIM612229	COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3	4092
MIM114500	COLORECTAL CANCER; CRC	4893, 5157, 324, 595, 4953, 8313, 6790, 27030, 5795, 5290, 7097, 7099, 701, 5320, 201163, 207, 8915, 2261, 2033, 7157, 4092
MIM233650	COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS; CCHIDG	5896, 5897
MIM312863	COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX	3561
MIM614265	COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA	197322
MIM609060	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1	85476
MIM610498	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2	51021
MIM610505	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3	10102
MIM610678	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4	7284
MIM611719	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5	56945
MIM300816	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6	9131
MIM613559	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7	91574
MIM614096	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8	57505
MIM611721	COMBINED SAPOSIN DEFICIENCY	5660
MIM217000	COMPLEMENT COMPONENT 2 DEFICIENCY; C2D	717
MIM613779	COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D	718
MIM120790	COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF	710
MIM609536	COMPLEMENT COMPONENT 5 DEFICIENCY; C5D	727
MIM612446	COMPLEMENT COMPONENT 6 DEFICIENCY; C6D	729
MIM610102	COMPLEMENT COMPONENT 7 DEFICIENCY; C7D	730
MIM613790	COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1	731
MIM613789	COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2	732
MIM613825	COMPLEMENT COMPONENT 9 DEFICIENCY; C9D	735
MIM216950	COMPLEMENT COMPONENT C1r/C1s DEFICIENCY	715
MIM613783	COMPLEMENT COMPONENT C1s DEFICIENCY; C1SD	716
MIM613912	COMPLEMENT FACTOR D DEFICIENCY; CFDD	1675
MIM609814	COMPLEMENT FACTOR H DEFICIENCY; CFHD	3075
MIM610984	COMPLEMENT FACTOR I DEFICIENCY; CFID	3426
MIM602093	CONE DYSTROPHY 3; COD3	2978
MIM613093	CONE DYSTROPHY 4; COD4	5146
MIM610283	CONE-ROD DYSTROPHY 10; CORD10	64218
MIM610381	CONE-ROD DYSTROPHY 11; CORD11	84839
MIM612657	CONE-ROD DYSTROPHY 12; CORD12	8842
MIM608194	CONE-ROD DYSTROPHY 13; CORD13	57096
MIM613660	CONE-ROD DYSTROPHY 15; CORD15	92211
MIM120970	CONE-ROD DYSTROPHY 2; CORD2	1406
MIM604116	CONE-ROD DYSTROPHY 3; CORD3	24
MIM600977	CONE-ROD DYSTROPHY 5; CORD5	3000, 83394
MIM601777	CONE-ROD DYSTROPHY 6; CORD6	3000
MIM603649	CONE-ROD DYSTROPHY 7; CORD7	22999
MIM612775	CONE-ROD DYSTROPHY 9; CORD9	8754
MIM304020	CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1	6103
MIM300476	CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3	778
MIM604168	CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY	9150
MIM212065	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A	5373
MIM602579	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B	4351
MIM603147	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C	29929
MIM601110	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D	10195
MIM608799	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E	8813
MIM609180	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F	9526
MIM607143	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G	79087
MIM608104	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H	79053
MIM607906	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I	85365
MIM212066	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A	4247
MIM606056	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B	7841
MIM266265	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C	55343
MIM607091	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D	2683
MIM608779	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E	91949
MIM603585	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F	10559
MIM611209	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G	9382
MIM611182	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H	84342
MIM613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I	10466
MIM613489	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J	25839
MIM608093	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J	1798
MIM608540	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K	56052
MIM608776	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L	79796
MIM610768	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M	22845
MIM612015	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N	91869
MIM612937	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O	54344
MIM613661	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P	440138
MIM612379	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q	79644
MIM308050	CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS	50814
MIM217095	CONOTRUNCAL HEART MALFORMATIONS; CTHM	137814, 2657, 55997, 6899
MIM121300	COPROPORPHYRIA, HEREDITARY; HCP	1371
MIM217300	CORNEA PLANA 2; CNA2	11081
MIM217400	CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS	83959
MIM608470	CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1	7045
MIM602082	CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2	7045
MIM607541	CORNEAL DYSTROPHY, AVELLINO TYPE; CDA	7045
MIM610048	CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD	1634
MIM121800	CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER	29914
MIM121820	CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; EBMD	7045
MIM121850	CORNEAL DYSTROPHY, FLECK	200576
MIM136800	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1	1296
MIM613268	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4	83959
MIM613270	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6	6935
MIM204870	CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; GDLD	4070
MIM121900	CORNEAL DYSTROPHY, GROENOUW TYPE I; CDGG1	7045
MIM122200	CORNEAL DYSTROPHY, LATTICE TYPE I; LCD1	7045
MIM608471	CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A	7045
MIM122100	CORNEAL DYSTROPHY, MEESMANN; MECD	3850, 3859
MIM122000	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1	1296, 30813
MIM609140	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2	1296
MIM609141	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3	6935
MIM217700	CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE; CHED2	83959
MIM122470	CORNELIA DE LANGE SYNDROME 1; CDLS1	25836
MIM300590	CORNELIA DE LANGE SYNDROME 2; CDLS2	8243
MIM610759	CORNELIA DE LANGE SYNDROME 3; CDLS3	9126
MIM610947	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2	4040
MIM608320	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1	4205
MIM607339	CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1	1524
MIM608901	CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5	8997
MIM610938	CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7	948
MIM300004	CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA	170302
MIM300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA	3476
MIM304100	CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED	3897
MIM614039	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS; CDCBM	10381
MIM610042	CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME	26047
MIM614115	CORTICAL MALFORMATIONS, OCCIPITAL; OCCM	10319
MIM611489	CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY	866
MIM203400	CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY	1585
MIM610600	CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY	1585
MIM604931	CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1	9563, 3290
MIM218040	COSTELLO SYNDROME	3845, 3265
MIM122700	COUMARIN RESISTANCE	1548, 1559, 2158, 79001
MIM260660	COUSIN SYNDROME	6913
MIM158350	COWDEN DISEASE; CD	5728, 657
MIM612359	COWDEN-LIKE SYNDROME	6390, 6392
MIM218330	CRANIOECTODERMAL DYSPLASIA 1; CED1	55764
MIM613610	CRANIOECTODERMAL DYSPLASIA 2; CED2	57539
MIM614099	CRANIOECTODERMAL DYSPLASIA 3; CED3	112752
MIM614195	CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS	30813
MIM614132	CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR	54499
MIM122880	CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS	5077
MIM304110	CRANIOFRONTONASAL SYNDROME; CFNS	1947
MIM607812	CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD	10484
MIM123000	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD	56172
MIM614188	CRANIOSYNOSTOSIS AND DENTAL ANOMALIES; CRSDA	3590
MIM123100	CRANIOSYNOSTOSIS, TYPE 1; CRS1	7291
MIM604757	CRANIOSYNOSTOSIS, TYPE 2; CRS2	4488
MIM300352	CREATINE DEFICIENCY SYNDROME, X-LINKED	6535
MIM123320	CREATINE PHOSPHOKINASE, ELEVATED SERUM	859
MIM123400	CREUTZFELDT-JAKOB DISEASE; CJD	3119, 5621
MIM123450	CRI-DU-CHAT SYNDROME	1501
MIM218800	CRIGLER-NAJJAR SYNDROME, TYPE I	54658
MIM606785	CRIGLER-NAJJAR SYNDROME, TYPE II	54658
MIM601378	CRISPONI SYNDROME	9244
MIM123500	CROUZON SYNDROME	2263
MIM612247	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN	2261
MIM219050	CRYPTORCHIDISM, UNILATERAL OR BILATERAL	3640, 122042
MIM176450	CURRARINO SYNDROME	3110
MIM613177	CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES	8425
MIM123700	CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1	10516, 2006
MIM219100	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A	10516, 30008, 4015
MIM219200	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A	23545
MIM612940	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B	5831
MIM613977	CYANOSIS, TRANSIENT NEONATAL; TNCY	3048
MIM162800	CYCLIC NEUTROPENIA	1991
MIM132700	CYLINDROMATOSIS, FAMILIAL	1540
MIM219500	CYSTATHIONINURIA	1491
MIM219700	CYSTIC FIBROSIS; CF	1080, 7040
MIM219750	CYSTINOSIS, ADULT NONNEPHROPATHIC	1497
MIM219900	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	1497
MIM219800	CYSTINOSIS, NEPHROPATHIC; CTNS	1497
MIM220100	CYSTINURIA	6519, 11136
MIM609162	CZECH DYSPLASIA	1280
MIM600721	D-2-@HYDROXYGLUTARIC ACIDURIA 1	728294
MIM613657	D-2-@HYDROXYGLUTARIC ACIDURIA 2	3418
MIM300257	DANON DISEASE	3920
MIM124200	DARIER-WHITE DISEASE; DAR	488
MIM261515	D-BIFUNCTIONAL PROTEIN DEFICIENCY	30, 3295
MIM278800	DE SANCTIS-CACCHIONE SYNDROME	2074
MIM580000	DEAFNESS, AMINOGLYCOSIDE-INDUCED	55687
MIM124900	DEAFNESS, AUTOSOMAL DOMINANT 1; DFNA1	1729
MIM601316	DEAFNESS, AUTOSOMAL DOMINANT 10; DFNA10	2070
MIM601317	DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11	4647
MIM601543	DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12	7007
MIM601868	DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13	1302
MIM602459	DEAFNESS, AUTOSOMAL DOMINANT 15; DFNA15	5459
MIM603622	DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17	4627
MIM604717	DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20	71
MIM606346	DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22	4646
MIM605192	DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23	6495
MIM605583	DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25	246213
MIM608641	DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28	79977
MIM600101	DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A	2707, 9132
MIM612644	DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B	2707
MIM606705	DEAFNESS, AUTOSOMAL DOMINANT 36; DFNA36	117531
MIM605594	DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1	1834
MIM601544	DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A	10804, 2706
MIM612643	DEAFNESS, AUTOSOMAL DOMINANT 3B; DFNA3B	10804
MIM607453	DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44	152137
MIM607841	DEAFNESS, AUTOSOMAL DOMINANT 48; DFNA48	4640
MIM600652	DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A	79784
MIM600994	DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5	1687
MIM613074	DEAFNESS, AUTOSOMAL DOMINANT 50; DFNA50	407053
MIM600965	DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6	7466
MIM614152	DEAFNESS, AUTOSOMAL DOMINANT 64; DFNA64	56616
MIM601369	DEAFNESS, AUTOSOMAL DOMINANT 9; DFNA9	1690
MIM605316	DEAFNESS, AUTOSOMAL RECESSIVE 10; DFNB10	64699
MIM601386	DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12	64072, 491
MIM601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15	126326
MIM603720	DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16	161497
MIM602092	DEAFNESS, AUTOSOMAL RECESSIVE 18; DFNB18	10083
MIM220290	DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A	10804, 2706, 2707
MIM612645	DEAFNESS, AUTOSOMAL RECESSIVE 1B; DFNB1B	10804
MIM600060	DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2	4647
MIM603629	DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21	7007
MIM607039	DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22	146183
MIM609533	DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23	65217
MIM611022	DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24	5962
MIM613285	DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25	389207
MIM609823	DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28	11078
MIM614035	DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29	23562
MIM600316	DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3	51168
MIM607101	DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30	53904
MIM607084	DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31	25861
MIM608565	DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35	2103
MIM609006	DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36	83715
MIM607821	DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37	4646
MIM608265	DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39	3082
MIM600791	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4	5172, 3766, 2299
MIM609646	DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42	286676
MIM610153	DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49	153562
MIM609706	DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53	1302
MIM610220	DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59	494513
MIM600971	DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6	259236
MIM613865	DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61	375611
MIM611451	DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63	220074
MIM610265	DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67	222662, 6911
MIM600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7	117531
MIM613718	DEAFNESS, AUTOSOMAL RECESSIVE 74; DFNB74	253827
MIM613079	DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77	125336
MIM613307	DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79	286262
MIM613391	DEAFNESS, AUTOSOMAL RECESSIVE 84; DFNB84	374462
MIM601071	DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9	9381
MIM613453	DEAFNESS, AUTOSOMAL RECESSIVE 91; DFNB91	5269
MIM601072	DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8; DFNB8	64699
MIM610706	DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA	2248
MIM124500	DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES	2706
MIM304400	DEAFNESS, X-LINKED 2; DFNX2	5456
MIM300066	DEAFNESS, X-LINKED 4; DFNX4	23676
MIM603528	DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL EDEMA	10774
MIM614163	DELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO; DSPS	15
MIM601285	DELETED IN SPLIT-HAND/SPLIT-FOOT 1 REGION	7979
MIM127750	DEMENTIA, LEWY BODY; DLB	6620, 6622
MIM614172	DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY; DCML	2624
MIM300009	DENT DISEASE 1	4952, 1184
MIM300555	DENT DISEASE 2	4952
MIM125370	DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA	1822
MIM125420	DENTIN DYSPLASIA, TYPE II	1834
MIM125490	DENTINOGENESIS IMPERFECTA 1; DGI1	1834
MIM125500	DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III	1834
MIM194080	DENYS-DRASH SYNDROME; DDS	7490
MIM603165	DERMATITIS, ATOPIC	2312, 114477, 117187, 117188
MIM605803	DERMATITIS, ATOPIC, 2; ATOD2	2312
MIM605805	DERMATITIS, ATOPIC, 4; ATOD4	9021
MIM125595	DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR	3861
MIM251450	DESBUQUOIS DYSPLASIA; DBQD	124583
MIM135290	DESMOID DISEASE, HEREDITARY	324
MIM602398	DESMOSTEROLOSIS	1718
MIM220120	D-GLYCERIC ACIDURIA	132158
MIM125800	DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL	359
MIM304800	DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED	554
MIM125700	DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	551
MIM601942	DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10	3559
MIM601388	DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12	1493
MIM610155	DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19	64135
MIM125852	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	3630
MIM612520	DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20	6927
MIM612521	DIABETES MELLITUS, INSULIN-DEPENDENT, 21; IDDM21	117289
MIM612522	DIABETES MELLITUS, INSULIN-DEPENDENT, 22; IDDM22	1234
MIM600320	DIABETES MELLITUS, INSULIN-DEPENDENT, 5; IDDM5	387082
MIM222100	DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM	6927, 10019, 3119, 4938, 26191, 3710, 50943
MIM610549	DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS	3643
MIM612227	DIABETES MELLITUS, KETOSIS-PRONE; KPD	5078
MIM610199	DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM	169792
MIM601283	DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1	11132
MIM125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM	2820, 9479, 6927, 6928, 6934, 50982, 7466, 5167, 169026, 3651, 2642, 3667, 2645, 3159, 5468, 3172, 100188782, 6517, 54901, 5770, 10644, 3990, 4760, 56729, 6833, 3767, 208, 8660, 5078, 3569, 7422
MIM606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM	3630, 2645, 6833, 3767
MIM601410	DIABETES MELLITUS, TRANSIENT NEONATAL, 1	346171, 5325, 57061
MIM610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2	6833
MIM610582	DIABETES MELLITUS, TRANSIENT NEONATAL, 3	3767
MIM613309	DIAMOND-BLACKFAN ANEMIA 10; DBA10	6231
MIM610629	DIAMOND-BLACKFAN ANEMIA 3; DBA3	6229
MIM612527	DIAMOND-BLACKFAN ANEMIA 4; DBA4	6218
MIM612528	DIAMOND-BLACKFAN ANEMIA 5; DBA5	6165
MIM612561	DIAMOND-BLACKFAN ANEMIA 6; DBA6	6125
MIM612562	DIAMOND-BLACKFAN ANEMIA 7; DBA7	6135
MIM612563	DIAMOND-BLACKFAN ANEMIA 8; DBA8	6201
MIM613308	DIAMOND-BLACKFAN ANEMIA 9; DBA9	6204
MIM105650	DIAMOND-BLACKFAN ANEMIA; DBA	6223, 114086
MIM608022	DIAPHANOSPONDYLODYSOSTOSIS	168667
MIM610187	DIAPHRAGMATIC HERNIA 3	23414
MIM251850	DIARRHEA 2, WITH MICROVILLUS ATROPHY; DIAR2	4645
MIM270420	DIARRHEA 3, SECRETORY SODIUM, CONGENITAL; DIAR3	10653
MIM610370	DIARRHEA 4, MALABSORPTIVE, CONGENITAL; DIAR4	50674
MIM613217	DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5	4072
MIM222600	DIASTROPHIC DYSPLASIA	1836
MIM188400	DIGEORGE SYNDROME; DGS	6899
MIM119900	DIGITAL CLUBBING, ISOLATED CONGENITAL	3248
MIM222748	DIHYDROPYRIMIDINASE DEFICIENCY	1807
MIM274270	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY	1806
MIM605850	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD	29958
MIM613571	DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	5447
MIM222448	DONNAI-BARROW SYNDROME	4036
MIM246200	DONOHUE SYNDROME	3643
MIM223360	DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL	1621
MIM179850	DOWLING-DEGOS DISEASE; DDD	3852
MIM190685	DOWN SYNDROME	2623, 4548
MIM126600	DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD	2202
MIM607208	DRAVET SYNDROME	2566, 6323
MIM609535	DRUG METABOLISM, POOR, CYP2C19-RELATED	1557
MIM608902	DRUG METABOLISM, POOR, CYP2D6-RELATED	1565
MIM604356	DUANE RETRACTION SYNDROME 2; DURS2	1123
MIM607323	DUANE-RADIAL RAY SYNDROME; DRRS	57167
MIM237500	DUBIN-JOHNSON SYNDROME; DJS	1244
MIM223800	DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC	54808
MIM127400	DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1	103
MIM127550	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; DKCA1	7012, 7015, 26277
MIM613989	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2; DKCA2	7015
MIM613990	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; DKCA3	26277
MIM224230	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1; DKCB1	55651, 55505
MIM613987	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2; DKCB2	55651
MIM613988	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3; DKCB3	55135
MIM305000	DYSKERATOSIS CONGENITA, X-LINKED; DKCX	1736
MIM127700	DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1	161582
MIM600202	DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2	51473, 9856
MIM224410	DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH	3339
MIM128100	DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1	1861
MIM128235	DYSTONIA 12; DYT12	478
MIM612067	DYSTONIA 16; DYT16	8575
MIM314250	DYSTONIA 3, TORSION, X-LINKED; DYT3	6872
MIM602629	DYSTONIA 6, TORSION; DYT6	55145
MIM612716	DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY	6697
MIM128230	DYSTONIA, DOPA-RESPONSIVE; DRD	2643
MIM607371	DYSTONIA, JUVENILE-ONSET	60
MIM145680	DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	7276
MIM300301	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID	8517
MIM612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	4792
MIM129500	ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT	10804
MIM129490	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED	10913, 128178
MIM224900	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE	10913, 128178
MIM300291	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	8517
MIM305100	ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED; XHED	1896
MIM602032	ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE	3891
MIM604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME	5317
MIM613573	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1	81607
MIM129600	ECTOPIA LENTIS, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1	2200
MIM225100	ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2	54507
MIM129750	ECTOPIA PUPILLAE	5080
MIM604292	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3	8626
MIM614303	EDICT SYNDROME; EDICT	406960
MIM225280	EEM SYNDROME	1001
MIM225320	EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM	1278
MIM601776	EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE	113189
MIM130070	EHLERS-DANLOS SYNDROME, PROGEROID FORM	11285
MIM130000	EHLERS-DANLOS SYNDROME, TYPE I	1289, 1290, 1277
MIM130010	EHLERS-DANLOS SYNDROME, TYPE II	1289
MIM130020	EHLERS-DANLOS SYNDROME, TYPE III	1281, 7148
MIM130050	EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT	1281
MIM225400	EHLERS-DANLOS SYNDROME, TYPE VI; EDS6	5351
MIM130060	EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT	1277, 1278
MIM225410	EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE	9509
MIM606408	EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY	7148
MIM600002	EIKEN SKELETAL DYSPLASIA	5745
MIM608053	ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE; ETFA	55215
MIM611804	ELLIPTOCYTOSIS 1; EL1	2035
MIM130600	ELLIPTOCYTOSIS 2; EL2	6708
MIM225500	ELLIS-VAN CREVELD SYNDROME; EVC	132884, 2121
MIM310300	EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1	2010
MIM181350	EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2	4000
MIM612998	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4	23345
MIM612999	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5	23224
MIM608033	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3	5903
MIM614212	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4	1376
MIM602473	ENCEPHALOPATHY, ETHYLMALONIC; EE	23474
MIM604218	ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB	5274
MIM300673	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS	4204
MIM166000	ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE	5745
MIM612651	ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO	22858
MIM608089	ENDOMETRIAL CANCER	5728, 2956, 27030, 999
MIM603034	ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD	8292
MIM268100	ENHANCED S-CONE SYNDROME; ESCS	10002
MIM226200	ENTEROKINASE DEFICIENCY	5651
MIM226300	ENTEROPATHY, PROTEIN-LOSING	4157
MIM226400	EPIDERMODYSPLASIA VERRUCIFORMIS; EV	11322, 147138
MIM131750	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB	1294
MIM226600	EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB	1294, 4312
MIM131850	EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL	1294
MIM226730	EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA	3655, 3691
MIM604129	EPIDERMOLYSIS BULLOSA PRURIGINOSA	1294
MIM609352	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA	3852
MIM131960	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP	3852
MIM226670	EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY	5339
MIM612138	EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA	5339
MIM601001	EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE	3861
MIM131760	EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE	3852, 3861
MIM131900	EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED	3852, 3861
MIM131800	EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED	3852, 3861, 3691
MIM131950	EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE	5339
MIM132000	EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS	1294
MIM226700	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE	3909, 3914, 3918
MIM226650	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	1308, 3909, 3914, 3918, 3691
MIM609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC	1832
MIM113800	EPIDERMOLYTIC HYPERKERATOSIS; EHK	3848, 3858
MIM613971	EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; EPND	2903
MIM607681	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; ECA2	2566
MIM612269	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5	2562
MIM611942	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6	8912
MIM600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1	9211
MIM613060	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10	2563
MIM607628	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11	1181
MIM612899	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8; EIG8	846
MIM607682	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9	785, 1181
MIM600669	EPILEPSY, IDIOPATHIC GENERALIZED; EIG	432400, 785, 353124, 4200, 4988
MIM607631	EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1	114327, 1181
MIM611136	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5; EJM5	2554
MIM254770	EPILEPSY, MYOCLONIC JUVENILE; EJM	785, 114327, 1181, 2554
MIM600513	EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1	1137
MIM605375	EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3	1141
MIM610353	EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4	1135
MIM612437	EPILEPSY, PROGRESSIVE MYOCLONIC 1B; EPM1B	144165
MIM611726	EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3	154881
MIM254900	EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE; EPM4	950
MIM613832	EPILEPSY, PROGRESSIVE MYOCLONIC 5; EPM5	166336
MIM614018	EPILEPSY, PROGRESSIVE MYOCLONIC 6; EPM6	9570
MIM266100	EPILEPSY, PYRIDOXINE-DEPENDENT; EPD	501
MIM300491	EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS	6853
MIM308350	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1	170302, 6792
MIM613402	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10; EIEE10	11284
MIM613721	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11	6326
MIM613722	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12	23236
MIM300672	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2	6792
MIM609304	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3	79751
MIM612164	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4	6812
MIM613477	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5	6709
MIM613720	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE7	3785
MIM300607	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8	23229
MIM300088	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9	57526
MIM606369	EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE	5602
MIM132400	EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1	1311
MIM600204	EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2	1298
MIM600969	EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3	1299
MIM226900	EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4	1836
MIM607078	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5	4148
MIM614135	EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6	1297
MIM226980	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS	9451
MIM132450	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS	1280
MIM160120	EPISODIC ATAXIA, TYPE 1; EA1	3736
MIM108500	EPISODIC ATAXIA, TYPE 2; EA2	773
MIM613855	EPISODIC ATAXIA, TYPE 5; EA5	785
MIM612656	EPISODIC ATAXIA, TYPE 6; EA6	6507
MIM153650	EPSTEIN SYNDROME	4627
MIM133020	ERYTHERMALGIA, PRIMARY	6335
MIM612874	ERYTHROCYTE AMP DEAMINASE DEFICIENCY	272
MIM245340	ERYTHROCYTE LACTATE TRANSPORTER DEFECT	6566
MIM133100	ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1	2057, 10019
MIM263400	ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2	7428
MIM609820	ERYTHROCYTOSIS, FAMILIAL, 3; ECYT3	54583
MIM611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4	2034
MIM609165	ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR; CRIE	3858
MIM133200	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; EKVP	127534, 2707
MIM133239	ESOPHAGEAL CANCER	51741, 50514, 7048, 6049, 11178, 9940
MIM610247	ESOPHAGITIS, EOSINOPHILIC, 1; EOE1	10344
MIM612219	EWING SARCOMA; ES	2130
MIM177650	EXFOLIATION SYNDROME; XFS	4016
MIM612714	EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS	84701
MIM133700	EXOSTOSES, MULTIPLE, TYPE I	2131
MIM133701	EXOSTOSES, MULTIPLE, TYPE II	2132
MIM133780	EXUDATIVE VITREORETINOPATHY 1; EVR1	8322
MIM305390	EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2	4693
MIM601813	EXUDATIVE VITREORETINOPATHY 4; EVR4	4041
MIM613310	EXUDATIVE VITREORETINOPATHY 5; EVR5	23554
MIM301500	FABRY DISEASE	2717
MIM600251	FACIAL CLEFTING, OBLIQUE, 1; OBLFC1	23384
MIM227300	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1; F5F8D1	90411, 3998
MIM613625	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2; F5F8D2	90411
MIM227400	FACTOR V DEFICIENCY	2153
MIM227500	FACTOR VII DEFICIENCY	2155
MIM227600	FACTOR X DEFICIENCY	2159
MIM612416	FACTOR XI DEFICIENCY	2160
MIM234000	FACTOR XII DEFICIENCY	2161
MIM613225	FACTOR XIII, A SUBUNIT, DEFICIENCY OF	2162
MIM613235	FACTOR XIII, B SUBUNIT, DEFICIENCY OF	2165
MIM125350	FAILURE OF TOOTH ERUPTION, PRIMARY; PFE	5745
MIM175100	FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1	324
MIM608456	FAMILIAL ADENOMATOUS POLYPOSIS, 2; FAP2	4595
MIM120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1	114548
MIM611762	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2	91662
MIM174810	FAMILIAL EXPANSILE OSTEOLYSIS; FEO	8792
MIM134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT	4210
MIM249100	FAMILIAL MEDITERRANEAN FEVER; FMF	4210
MIM227650	FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA	2175, 2176, 2177, 2178, 2187, 2188, 2189, 675
MIM300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB	2187
MIM227645	FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC	2176
MIM605724	FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1	675
MIM227646	FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2	2177
MIM600901	FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE	2178
MIM603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF	2188
MIM614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG	2189
MIM609053	FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI	55215
MIM609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ	83990
MIM614083	FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL	55120
MIM614087	FANCONI ANEMIA, COMPLEMENTATION GROUP M; FANCM	57697
MIM610832	FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN	79728
MIM613390	FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO	5889
MIM613951	FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP	84464
MIM613388	FANCONI RENOTUBULAR SYNDROME 2; FRTS2	6569
MIM227810	FANCONI-BICKEL SYNDROME; FBS	6514
MIM228000	FARBER LIPOGRANULOMATOSIS	427
MIM612108	FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1; FGQTL1	57818
MIM613463	FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5; FGQTL5	2646
MIM600072	FATAL FAMILIAL INSOMNIA; FFI	5621
MIM211500	FAZIO-LONDE DISEASE	113278
MIM604352	FEBRILE SEIZURES, FAMILIAL, 4; FEB4	84059
MIM153640	FECHTNER SYNDROME; FTNS	4627
MIM164280	FEINGOLD SYNDROME 1; FGLDS1	4613
MIM228300	FERTILE EUNUCH SYNDROME	2798
MIM208150	FETAL AKINESIA DEFORMATION SEQUENCE; FADS	5913, 285489
MIM141749	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1	3043, 3047, 3048
MIM142335	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5	53335
MIM613566	FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6; HBFQTL6	10661
MIM300321	FG SYNDROME 2; FGS2	2316
MIM300422	FG SYNDROME 4; FGS4	8573
MIM228520	FIBROCHONDROGENESIS 1; FBCG1	1301
MIM135100	FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP	90
MIM135300	FIBROMATOSIS, GINGIVAL, 1; GINGF1	64644, 6654
MIM228600	FIBROMATOSIS, JUVENILE HYALINE	118429
MIM135700	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1	55605
MIM602078	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2	401
MIM600638	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A	26176, 10381
MIM228930	FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY	7476
MIM228900	FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY	8200
MIM136120	FISH-EYE DISEASE; FED	3931
MIM607341	FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT	7248
MIM305600	FOCAL DERMAL HYPOPLASIA; FDH	64840
MIM603278	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1	81
MIM603965	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2	7225
MIM607832	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3	23607
MIM612551	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4	8542
MIM613237	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5	64423
MIM614131	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6	4643
MIM229050	FOLATE MALABSORPTION, HEREDITARY	113235
MIM229070	FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED	2488
MIM229100	FORMIMINOTRANSFERASE DEFICIENCY	10841
MIM136520	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME	5080
MIM300624	FRAGILE X MENTAL RETARDATION SYNDROME	2332
MIM300623	FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS	2332
MIM249420	FRANK-TER HAAR SYNDROME; FTHS	285590
MIM219000	FRASER SYNDROME	80144, 341640
MIM136680	FRASIER SYNDROME	7490
MIM229300	FRIEDREICH ATAXIA 1; FRDA	2395, 2420
MIM305620	FRONTOMETAPHYSEAL DYSPLASIA; FMD	2316
MIM136760	FRONTONASAL DYSPLASIA 1; FND1	257
MIM613451	FRONTONASAL DYSPLASIA 2; FND2	60529
MIM613456	FRONTONASAL DYSPLASIA 3; FND3	8092
MIM600795	FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3	25978
MIM600274	FRONTOTEMPORAL DEMENTIA; FTD	5663, 4137
MIM607485	FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED	2896
MIM229600	FRUCTOSE INTOLERANCE, HEREDITARY	229
MIM229700	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY	2203
MIM229800	FRUCTOSURIA, ESSENTIAL	3795
MIM230000	FUCOSIDOSIS	2517
MIM613852	FUCOSYLTRANSFERASE 6 DEFICIENCY	2528
MIM606812	FUMARASE DEFICIENCY	2271
MIM136880	FUNDUS ALBIPUNCTATUS	5959, 5961, 6010, 6017
MIM136900	FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD	7078
MIM613163	GABA-TRANSAMINASE DEFICIENCY	18
MIM230200	GALACTOKINASE DEFICIENCY	2584
MIM230350	GALACTOSE EPIMERASE DEFICIENCY	2582
MIM230400	GALACTOSEMIA	2592
MIM256540	GALACTOSIALIDOSIS; GSL	5476
MIM600803	GALLBLADDER DISEASE 1; GBD1	5244
MIM611465	GALLBLADDER DISEASE 4; GBD4	64241
MIM612365	GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1	2678
MIM612366	GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2	2678
MIM230450	GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	2729
MIM613659	GASTRIC CANCER	324
MIM137215	GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC	3845, 2064, 1316, 324, 843, 3659, 5290, 2263, 3553, 3557, 999, 4595
MIM606764	GASTROINTESTINAL STROMAL TUMOR; GIST	5156, 3815, 6390, 6391
MIM610539	GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY	5660
MIM608013	GAUCHER DISEASE, PERINATAL LETHAL	2629
MIM230800	GAUCHER DISEASE, TYPE I	2629
MIM230900	GAUCHER DISEASE, TYPE II	2629
MIM231000	GAUCHER DISEASE, TYPE III	2629
MIM231005	GAUCHER DISEASE, TYPE IIIC	2629
MIM607313	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS	64221
MIM231050	GELEOPHYSIC DYSPLASIA 1; GPHYSD1	9719
MIM614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2	2200
MIM609446	GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD	3778
MIM604233	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1	2563, 2566, 6323, 6324
MIM604403	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2	6323, 6335
MIM611277	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3	2566
MIM613863	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7	6335
MIM231070	GERODERMA OSTEODYSPLASTICUM; GO	92344
MIM137440	GERSTMANN-STRAUSSLER DISEASE; GSD	5621
MIM231095	GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD	6916
MIM256850	GIANT AXONAL NEUROPATHY 1; GAN1	8139
MIM607457	GIL BLOOD GROUP	360
MIM143500	GILBERT SYNDROME	54658
MIM137580	GILLES DE LA TOURETTE SYNDROME; GTS	114798
MIM263800	GITELMAN SYNDROME	6559
MIM273800	GLANZMANN THROMBASTHENIA; GT	3674, 3690
MIM137750	GLAUCOMA 1, OPEN ANGLE, A; GLC1A	1545, 4653, 4010
MIM609887	GLAUCOMA 1, OPEN ANGLE, G; GLC1G	134430
MIM613100	GLAUCOMA 1, OPEN ANGLE, O; GLC1O	4909
MIM231300	GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A	1545
MIM613086	GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D	4053
MIM606657	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO	4976, 10133
MIM137760	GLAUCOMA, PRIMARY OPEN ANGLE; POAG	1545, 134430, 10133, 2722
MIM137800	GLIOMA SUSCEPTIBILITY 1; GLM1	2064, 4436, 5468, 5728, 338030, 675, 55717, 404685, 1755, 9211
MIM613028	GLIOMA SUSCEPTIBILITY 2; GLM2	5728
MIM613029	GLIOMA SUSCEPTIBILITY 3; GLM3	675
MIM609886	GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA	7369
MIM601894	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; GFND2	2335
MIM138000	GLOMUVENOUS MALFORMATIONS; GVM	11146
MIM202200	GLUCOCORTICOID DEFICIENCY 1; GCCD1	4158
MIM607398	GLUCOCORTICOID DEFICIENCY 2; GCCD2	56246
MIM103900	GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA	1584
MIM606824	GLUCOSE/GALACTOSE MALABSORPTION; GGM	6523
MIM606777	GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1	6513
MIM612126	GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2	6513
MIM610015	GLUTAMINE DEFICIENCY, CONGENITAL	2752
MIM231670	GLUTARIC ACIDEMIA I	2639
MIM231690	GLUTARIC ACIDURIA III	79783
MIM614164	GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD	2876
MIM266130	GLUTATHIONE SYNTHETASE DEFICIENCY	2937
MIM231900	GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO	2937
MIM231950	GLUTATHIONURIA	2678
MIM605899	GLYCINE ENCEPHALOPATHY; GCE	275, 2653, 2731
MIM606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY	27232
MIM240600	GLYCOGEN STORAGE DISEASE 0, LIVER	2998
MIM611556	GLYCOGEN STORAGE DISEASE 0, MUSCLE	2997
MIM232200	GLYCOGEN STORAGE DISEASE Ia	2538
MIM232220	GLYCOGEN STORAGE DISEASE Ib	2542
MIM232240	GLYCOGEN STORAGE DISEASE Ic	2542
MIM232300	GLYCOGEN STORAGE DISEASE II	2548
MIM232400	GLYCOGEN STORAGE DISEASE III	178
MIM232500	GLYCOGEN STORAGE DISEASE IV	2632
MIM306000	GLYCOGEN STORAGE DISEASE IXa1; GSD9A1	5256
MIM261750	GLYCOGEN STORAGE DISEASE IXb; GSD9B	5257
MIM613027	GLYCOGEN STORAGE DISEASE IXc; GSD9C	5261
MIM261740	GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL	51422
MIM232600	GLYCOGEN STORAGE DISEASE V	5837
MIM232700	GLYCOGEN STORAGE DISEASE VI	5836
MIM232800	GLYCOGEN STORAGE DISEASE VII	5213
MIM261670	GLYCOGEN STORAGE DISEASE X; GSD10	5224
MIM612933	GLYCOGEN STORAGE DISEASE XI; GSD11	3939
MIM611881	GLYCOGEN STORAGE DISEASE XII; GSD12	226
MIM612932	GLYCOGEN STORAGE DISEASE XIII; GSD13	2027
MIM612934	GLYCOGEN STORAGE DISEASE XIV; GSD14	5236
MIM613507	GLYCOGEN STORAGE DISEASE XV; GSD15	2992
MIM300559	GLYCOGEN STORAGE DISEASE, TYPE IXd; GSD9D	5255
MIM610293	GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY	93183
MIM230500	GM1-GANGLIOSIDOSIS, TYPE I	2720
MIM230600	GM1-GANGLIOSIDOSIS, TYPE II	2720
MIM230650	GM1-GANGLIOSIDOSIS, TYPE III	2720
MIM272750	GM2-GANGLIOSIDOSIS, AB VARIANT	2760
MIM166260	GNATHODIAPHYSEAL DYSPLASIA; GDD	203859
MIM138800	GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; MNG1	23405
MIM609460	GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME	26128
MIM603358	GRACILE SYNDROME	617
MIM233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	1535
MIM233700	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I	653361
MIM233710	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II	4688
MIM613960	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III	4689
MIM306400	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD	1536
MIM275000	GRAVES DISEASE	50976, 2638, 64135, 117189, 1493
MIM139090	GRAY PLATELET SYNDROME; GPS	23218
MIM175700	GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS	2737
MIM214450	GRISCELLI SYNDROME, TYPE 1; GS1	4644
MIM607624	GRISCELLI SYNDROME, TYPE 2; GS2	5873
MIM609227	GRISCELLI SYNDROME, TYPE 3; GS3	79083
MIM245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY	6777
MIM612938	GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH; GDFD	79068
MIM612736	GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY	2593
MIM258870	GYRATE ATROPHY OF CHOROID AND RETINA; GACR	4942
MIM245010	HAIM-MUNK SYNDROME; HMS	1075
MIM612630	HAIR MORPHOLOGY 1; HRM1	10913
MIM102500	HAJDU-CHENEY SYNDROME; HJCYS	4853
MIM234100	HALLERMANN-STREIFF SYNDROME; HSS	2697
MIM140000	HAND-FOOT-UTERUS SYNDROME	3209
MIM234500	HARTNUP DISORDER	340024
MIM140300	HASHIMOTO THYROIDITIS	1493
MIM140350	HAWKINSINURIA	3242
MIM610140	HEART-HAND SYNDROME, SLOVENIAN TYPE	4000
MIM140700	HEINZ BODY ANEMIAS	3039, 3040, 3043
MIM600263	HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO	3459, 5803
MIM602089	HEMANGIOMA, CAPILLARY INFANTILE	2324, 84168, 3791
MIM141200	HEMATURIA, BENIGN FAMILIAL; BFH	1285
MIM614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D	3162
MIM602390	HEMOCHROMATOSIS, TYPE 2A; HFE2A	148738, 57817
MIM613313	HEMOCHROMATOSIS, TYPE 2B; HFE2B	57817
MIM604250	HEMOCHROMATOSIS, TYPE 3; HFE3	7036
MIM606069	HEMOCHROMATOSIS, TYPE 4; HFE4	30061
MIM235200	HEMOCHROMATOSIS; HFE	3077, 650
MIM613978	HEMOGLOBIN H DISEASE; HBH	3039, 3040
MIM613470	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	2821
MIM235700	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY	3098
MIM235400	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1	3075, 3078, 4179, 3426, 10878
MIM612922	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2	4179
MIM612923	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3	3426
MIM612924	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4	629
MIM612925	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5	718
MIM612926	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; AHUS6	7056
MIM603553	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2	5551
MIM608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3	201294
MIM603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4	8676
MIM306700	HEMOPHILIA A; HEMA	2157
MIM306900	HEMOPHILIA B; HEMB	2158
MIM613730	HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS	83700
MIM235510	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME	147372
MIM612356	HEPARIN COFACTOR II DEFICIENCY	3053
MIM142330	HEPATIC ADENOMAS, FAMILIAL	6927
MIM614025	HEPATIC LIPASE DEFICIENCY	3990
MIM235550	HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI	3431
MIM610424	HEPATITIS B VIRUS, SUSCEPTIBILITY TO	3588, 3455, 3459
MIM609532	HEPATITIS C VIRUS, SUSCEPTIBILITY TO	3458, 5788, 1234, 282617
MIM114550	HEPATOCELLULAR CARCINOMA	5157, 324, 841, 8312, 4233, 5290, 1499, 7157
MIM150800	HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC	2271
MIM601152	HEREDITARY MOTOR AND SENSORY NEUROPATHY VI	9927
MIM606071	HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C	59341
MIM603689	HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF	7273
MIM203300	HERMANSKY-PUDLAK SYNDROME 1; HPS1	84062, 84343, 89781, 3257, 79803, 388552, 11234
MIM608233	HERMANSKY-PUDLAK SYNDROME 2; HPS2	8546
MIM614072	HERMANSKY-PUDLAK SYNDROME 3; HPS3	84343
MIM614073	HERMANSKY-PUDLAK SYNDROME 4; HPS4	89781
MIM614074	HERMANSKY-PUDLAK SYNDROME 5; HPS5	11234
MIM614075	HERMANSKY-PUDLAK SYNDROME 6; HPS6	79803
MIM614076	HERMANSKY-PUDLAK SYNDROME 7; HPS7	84062
MIM614077	HERMANSKY-PUDLAK SYNDROME 8; HPS8	388552
MIM614171	HERMANSKY-PUDLAK SYNDROME 9; HPS9	26258
MIM610551	HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1	81622
MIM613002	HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2	7098
MIM306955	HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1	7547
MIM605376	HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2	55997
MIM613751	HETEROTAXY, VISCERAL, 4, AUTOSOMAL; HTX4	93
MIM270100	HETEROTAXY, VISCERAL, 5, AUTOSOMAL; HTX5	4838
MIM608097	HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE	10564
MIM300537	HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT	2316
MIM300049	HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT	2316
MIM612797	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12; HDLCQ12	3990
MIM610762	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6; HDLCQ6	949
MIM228960	HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY	3827
MIM613870	HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION	1889
MIM142623	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1	4902, 3897, 5979, 2668, 1908, 8929
MIM600155	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2	1910
MIM613711	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3; HSCR3	2668
MIM613712	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4; HSCR4	1908
MIM235800	HISTIDINEMIA	3034
MIM612160	HISTIOCYTOMA, ANGIOMATOID FIBROUS	1385
MIM253270	HOLOCARBOXYLASE SYNTHETASE DEFICIENCY	3141
MIM236100	HOLOPROSENCEPHALY	117190
MIM614226	HOLOPROSENCEPHALY 11; HPE11	50937
MIM157170	HOLOPROSENCEPHALY 2; HPE2	6496
MIM142945	HOLOPROSENCEPHALY 3; HPE3	6469
MIM142946	HOLOPROSENCEPHALY 4; HPE4	7050
MIM609637	HOLOPROSENCEPHALY 5; HPE5	7546
MIM610828	HOLOPROSENCEPHALY 7; HPE7	5727
MIM610829	HOLOPROSENCEPHALY 9; HPE9	2736
MIM142900	HOLT-ORAM SYNDROME; HOS	6910
MIM236200	HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY	875
MIM236250	HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	4524
MIM236270	HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE	4552
MIM300240	HOYERAAL-HREIDARSSON SYNDROME; HHS	1736
MIM609423	HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO	3107, 30835, 3458, 6347, 6348, 6349, 6356, 3811, 3566, 6387, 1524, 3577
MIM143100	HUNTINGTON DISEASE; HD	3064
MIM603218	HUNTINGTON DISEASE-LIKE 1; HDL1	5621
MIM606438	HUNTINGTON DISEASE-LIKE 2; HDL2	57338
MIM607014	HURLER SYNDROME	3425
MIM607015	HURLER-SCHEIE SYNDROME	3425
MIM176670	HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS	4000
MIM236490	HYALINOSIS, INFANTILE SYSTEMIC; ISH	118429
MIM231090	HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1	199713
MIM614293	HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2	154288
MIM307000	HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS	3897
MIM236680	HYDROLETHALUS SYNDROME 1; HLS1	219844
MIM614120	HYDROLETHALUS SYNDROME 2; HLS2	374654
MIM215140	HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA	3930
MIM614033	HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY	3029
MIM236800	HYDROXYKYNURENINURIA	8942
MIM613677	HYPERALDOSTERONISM, FAMILIAL, TYPE III	3762
MIM143470	HYPERALPHALIPOPROTEINEMIA 1; HALP1	1071
MIM614028	HYPERALPHALIPOPROTEINEMIA 2; HALP2	345
MIM237900	HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL; HBLRTFN	54658
MIM614156	HYPERBILIVERDINEMIA; HBLVD	644
MIM143880	HYPERCALCEMIA, INFANTILE	1591
MIM143870	HYPERCALCIURIA, ABSORPTIVE, 2; HCA2	55811
MIM115300	HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT	53630
MIM143860	HYPERCHLORHIDROSIS, ISOLATED	771
MIM607748	HYPERCHOLANEMIA, FAMILIAL; FHCA	570, 9414
MIM603776	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3	255738
MIM144010	HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B	338
MIM603813	HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH	26119
MIM143890	HYPERCHOLESTEROLEMIA, FAMILIAL	2053, 19, 336, 10842, 3949, 3700, 2690
MIM149400	HYPEREKPLEXIA, HEREDITARY 1; HKPX1	10243, 2741, 2743, 9152
MIM607685	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES	5156
MIM600886	HYPERFERRITINEMIA-CATARACT SYNDROME	2512
MIM307030	HYPERGLYCEROLEMIA	2710
MIM138500	HYPERGLYCINURIA	340024, 153201, 54716
MIM260920	HYPER-IgD SYNDROME; HIDS	4598
MIM147060	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT	6774
MIM243700	HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE	81704
MIM256450	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1	6833
MIM601820	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2	3767
MIM602485	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3	2645
MIM609975	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4	3033
MIM609968	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5	3643
MIM606762	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6	2746
MIM610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7	6566
MIM170500	HYPERKALEMIC PERIODIC PARALYSIS; HYPP	10008, 6329
MIM602491	HYPERLIPIDEMIA, COMBINED, 1	7391
MIM144250	HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL	4023, 7391
MIM238600	HYPERLIPOPROTEINEMIA, TYPE I	4023
MIM144650	HYPERLIPOPROTEINEMIA, TYPE V	116519
MIM238700	HYPERLYSINEMIA	10157
MIM614300	HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	132
MIM613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	191
MIM238970	HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME	10166
MIM239100	HYPEROSTOSIS CORTICALIS GENERALISATA	50964
MIM144750	HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS	4041
MIM259900	HYPEROXALURIA, PRIMARY, TYPE I; HP1	189
MIM260000	HYPEROXALURIA, PRIMARY, TYPE II	9380
MIM613616	HYPEROXALURIA, PRIMARY, TYPE III; HP3	112817
MIM145000	HYPERPARATHYROIDISM 1; HRPT1	4221, 79577
MIM145001	HYPERPARATHYROIDISM 2; HRPT2	79577
MIM239200	HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT	846
MIM261640	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A	5805
MIM233910	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B	2643
MIM261630	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C	5860
MIM264070	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D	5092
MIM239300	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1	55650
MIM145250	HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2; FPH2	4254
MIM239500	HYPERPROLINEMIA, TYPE I; HPI	5625
MIM239510	HYPERPROLINEMIA, TYPE II; HPII	8659
MIM608622	HYPERTENSION, DIASTOLIC, RESISTANCE TO	3779
MIM605115	HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY	4306
MIM145500	HYPERTENSION, ESSENTIAL	6401, 1577, 8490, 50986, 444980, 1889, 5740, 118, 100188807, 100188808, 183, 185, 117191, 2784, 481, 4843, 4846, 387575
MIM611014	HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8; HYT8	51320
MIM603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL	7253
MIM609152	HYPERTHYROIDISM, NONAUTOIMMUNE	7253
MIM145750	HYPERTRIGLYCERIDEMIA, FAMILIAL	116519, 6101, 149998
MIM145900	HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS	5376, 4359, 57716, 1959
MIM259100	HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1	3248
MIM613845	HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS	54938
MIM162000	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; HNFJ1	7369
MIM613092	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2; HNFJ2	5972
MIM604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY	19, 335
MIM605019	HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2	27329
MIM145980	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1	846
MIM146000	HYPOCHONDROPLASIA; HCH	2261
MIM240800	HYPOGLYCEMIA, LEUCINE-INDUCED; LIH	6833
MIM308700	HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1	3730
MIM147950	HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2	2260
MIM244200	HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3	128674
MIM610628	HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4	60675
MIM612370	HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5	55636
MIM612702	HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6	2253
MIM146110	HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7	60675, 55636, 84634, 26012, 6866, 2260, 6870
MIM170400	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1	779, 10008, 6329
MIM613345	HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2	6329
MIM602014	HYPOMAGNESEMIA 1, INTESTINAL; HOMG1	140803
MIM154020	HYPOMAGNESEMIA 2, RENAL; HOMG2	486
MIM248250	HYPOMAGNESEMIA 3, RENAL; HOMG3	10686
MIM611718	HYPOMAGNESEMIA 4, RENAL; HOMG4	1950
MIM248190	HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5	149461
MIM613882	HYPOMAGNESEMIA 6, RENAL; HOMG6	54805
MIM612949	HYPOMYELINATION, GLOBAL CEREBRAL	8604
MIM146200	HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH	846, 5741
MIM146255	HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR	2625
MIM241410	HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD	6905
MIM146300	HYPOPHOSPHATASIA, ADULT	249
MIM241510	HYPOPHOSPHATASIA, CHILDHOOD	249
MIM241500	HYPOPHOSPHATASIA, INFANTILE	249
MIM241530	HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH	142680
MIM193100	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR	8074
MIM241520	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1	1758
MIM613312	HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2	5167
MIM307800	HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR	5251
MIM300554	HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	1184
MIM241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1	2697
MIM607236	HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION	80025
MIM241600	HYPOPROTEINEMIA, HYPERCATABOLIC	567
MIM300633	HYPOSPADIAS 1, X-LINKED; HYSP1	10046, 367
MIM300758	HYPOSPADIAS 2, X-LINKED; HYSP2	10046
MIM241800	HYPOTHALAMIC HAMARTOMAS	2737
MIM241850	HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE	2304
MIM218700	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2	7849
MIM275100	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4	7252
MIM225250	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5	1482
MIM606407	HYPOTONIA-CYSTINURIA SYNDROME	9581, 6519
MIM605389	HYPOTRICHOSIS 1; HYPT1	147495, 7050
MIM146520	HYPOTRICHOSIS 2; HYPT2	1041
MIM613981	HYPOTRICHOSIS 3; HYPT3	121391
MIM146550	HYPOTRICHOSIS 4; HYPT4	55806
MIM607903	HYPOTRICHOSIS 6; HYPT6	147409
MIM604379	HYPOTRICHOSIS 7; HYPT7	200879
MIM278150	HYPOTRICHOSIS 8; HYPT8	10161
MIM613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES	1825
MIM601553	HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD	1001
MIM607823	HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS	54345
MIM220150	HYPOURICEMIA, RENAL, 1; RHUC1	116085
MIM612076	HYPOURICEMIA, RENAL, 2; RHUC2	56606
MIM242100	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1	7051, 59344, 242
MIM242500	ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE	26154
MIM146590	ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM	3848
MIM608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS	10999
MIM146700	ICHTHYOSIS VULGARIS	2312
MIM610765	ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE	6768
MIM146800	ICHTHYOSIS, BULLOUS TYPE	3849
MIM612281	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, NIPAL4-RELATED	348938
MIM607602	ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS	3848, 3858
MIM602540	ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS	2706
MIM242300	ICHTHYOSIS, LAMELLAR, 1; LI1	7051
MIM601277	ICHTHYOSIS, LAMELLAR, 2; LI2	26154
MIM604777	ICHTHYOSIS, LAMELLAR, 3; LI3	126410
MIM613943	ICHTHYOSIS, LAMELLAR, 4; LI4	643418
MIM607626	ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS	9076
MIM308100	ICHTHYOSIS, X-LINKED; XLI	412
MIM308205	IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME	51360
MIM161950	IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1; IGAN1	6401, 6402, 5284
MIM147050	IgE RESPONSIVENESS, ATOPIC; IGER	6403, 7941, 26762, 2206, 50615, 51131, 3566, 11005
MIM242600	IMINOGLYCINURIA	340024, 153201, 54716
MIM612782	IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1	84876
MIM612783	IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2	6786
MIM610163	IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA	919
MIM610798	IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN	28956
MIM613860	IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY	8547
MIM308230	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1	959
MIM605258	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2	57379
MIM606843	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3	958
MIM608106	IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5	7374
MIM300584	IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA	8517
MIM607594	IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1	29851
MIM240500	IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2	23495
MIM613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3	930
MIM613494	IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4	115650
MIM613495	IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5	931
MIM613496	IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6	975
MIM300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN	84061
MIM242860	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1	1789
MIM614069	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2	9841
MIM304790	IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX	50943
MIM609529	IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2	23495
MIM614102	IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY; IGKCD	3514
MIM242900	IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE	50485
MIM600737	INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2	10020
MIM605637	INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT; IBM3	4620
MIM167320	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD	7415
MIM308300	INCONTINENTIA PIGMENTI; IP	8517
MIM613098	INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC	4157
MIM243000	INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE	6335
MIM269920	INFANTILE SIALIC ACID STORAGE DISORDER	26503
MIM613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS	8772
MIM266600	INFLAMMATORY BOWEL DISEASE 1; IBD1	9231, 3378, 170595, 30829, 64127, 1673, 50608, 6583, 57042, 317669, 3569, 149233, 50941, 50942
MIM611081	INFLAMMATORY BOWEL DISEASE 10; IBD10	55054
MIM191390	INFLAMMATORY BOWEL DISEASE 11; IBD11	4584
MIM612244	INFLAMMATORY BOWEL DISEASE 13; IBD13	5243
MIM612245	INFLAMMATORY BOWEL DISEASE 14; IBD14	3663
MIM612261	INFLAMMATORY BOWEL DISEASE 17; IBD17	149233
MIM612278	INFLAMMATORY BOWEL DISEASE 19; IBD19	345611
MIM612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25	3588
MIM613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28	3587
MIM613850	INOSINE TRIPHOSPHATASE DEFICIENCY	3704
MIM256800	INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA	4914
MIM608747	INSULIN-LIKE GROWTH FACTOR I DEFICIENCY	3479
MIM270450	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO	3480
MIM147510	INSULIN-RELATED DNA POLYMORPHISM; IRDN	3630
MIM606367	INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF	3559
MIM603932	INTERVERTEBRAL DISC DISEASE; IDD	1298, 1299, 1301, 8483, 54829, 7058, 4318
MIM300048	INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED	2316
MIM261000	INTRINSIC FACTOR DEFICIENCY; IFD	2694
MIM610799	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1	114609, 51135
MIM300640	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2	8517
MIM607676	IRAK4 DEFICIENCY	51135
MIM601631	IRIDOGONIODYSGENESIS, TYPE 1; IRID1	2296
MIM137600	IRIDOGONIODYSGENESIS, TYPE 2; IRID2	5308
MIM206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA	164656
MIM611283	ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	27034
MIM262400	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A	2688
MIM612781	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B	2688, 2692
MIM173100	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II; IGHD2	2688
MIM307200	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3	695
MIM243500	ISOVALERIC ACIDEMIA; IVA	3712
MIM147750	IVIC SYNDROME	57167
MIM123150	JACKSON-WEISS SYNDROME; JWS	2260, 2263
MIM217080	JALILI SYNDROME	26504
MIM220400	JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1	3753, 3784
MIM612347	JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2	3753
MIM243800	JOHANSON-BLIZZARD SYNDROME; JBS	197131
MIM300804	JOUBERT SYNDROME 10; JBTS10	8481
MIM614173	JOUBERT SYNDROME 13; JBTS13	79600
MIM608091	JOUBERT SYNDROME 2; JBTS2	51259
MIM608629	JOUBERT SYNDROME 3; JBTS3	54806
MIM609583	JOUBERT SYNDROME 4; JBTS4	4867
MIM610188	JOUBERT SYNDROME 5; JBTS5	80184
MIM610688	JOUBERT SYNDROME 6; JBTS6	91147
MIM611560	JOUBERT SYNDROME 7; JBTS7	23322
MIM612291	JOUBERT SYNDROME 8; JBTS8	200894
MIM612285	JOUBERT SYNDROME 9; JBTS9	57545
MIM213300	JOUBERT SYNDROME; JBTS	56623
MIM607785	JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML	23092, 5781, 4763
MIM174900	JUVENILE POLYPOSIS SYNDROME; JPS	5728, 657, 4089
MIM175050	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT	4089
MIM147920	KABUKI SYNDROME 1; KABUK1	8085
MIM609242	KANZAKI DISEASE	4668
MIM148000	KAPOSI SARCOMA, SUSCEPTIBILITY TO	3569
MIM611775	KAWASAKI DISEASE	80271
MIM148050	KBG SYNDROME; KBGS	29123
MIM300323	KELLEY-SEEGMILLER SYNDROME	3251
MIM244460	KENNY-CAFFEY SYNDROME, TYPE 1; KCS1	6905
MIM148190	KERATITIS, HEREDITARY	5080
MIM148210	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT	2706
MIM148300	KERATOCONUS 1; KTCN1	30813
MIM148350	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS	2706
MIM308800	KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX	6303, 51360
MIM601952	KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA	51371
MIM148700	KERATOSIS PALMOPLANTARIS STRIATA I; PPKS1	3848, 1828
MIM612908	KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2	1832
MIM607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3	3848
MIM182000	KERATOSIS, SEBORRHEIC	5290
MIM245150	KEUTEL SYNDROME	4256
MIM173650	KINDLER SYNDROME	55612
MIM610253	KLEEFSTRA SYNDROME	79813
MIM118100	KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1	392255
MIM613702	KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT; KFS3	9573
MIM149000	KLIPPEL-TRENAUNAY-WEBER SYNDROME	55109
MIM156550	KNIEST DYSPLASIA	1280
MIM267750	KNOBLOCH SYNDROME 1; KNO1	80781
MIM608454	KNOBLOCH SYNDROME 2; KNO2	170692
MIM607486	KNOPS BLOOD GROUP SYSTEM; KN	1378
MIM149200	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS	2706
MIM262650	KOWARSKI SYNDROME	2688
MIM245200	KRABBE DISEASE	2581
MIM611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY	5660
MIM606693	KUFOR-RAKEB SYNDROME; KRS	23400
MIM236792	L-2-HYDROXYGLUTARIC ACIDURIA	79944
MIM149730	LACRIMOAURICULODENTODIGITAL SYNDROME; LADD	2255, 2261, 2263
MIM223000	LACTASE DEFICIENCY, CONGENITAL	3938
MIM614128	LACTATE DEHYDROGENASE B DEFICIENCY; LDHBD	3945
MIM223100	LACTOSE INTOLERANCE, ADULT TYPE	4175, 3938
MIM249700	LANGER MESOMELIC DYSPLASIA; LMD	6473
MIM262500	LARON SYNDROME	2690
MIM150250	LARSEN SYNDROME; LRS	2317
MIM245660	LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS	3909
MIM605670	LATE-ONSET RETINAL DEGENERATION; LORD	114902
MIM607330	LATHOSTEROLOSIS	6309
MIM135750	LAURIN-SANDROW SYNDROME	145282
MIM204000	LEBER CONGENITAL AMAUROSIS 1; LCA1	3000
MIM611755	LEBER CONGENITAL AMAUROSIS 10; LCA10	80184
MIM613837	LEBER CONGENITAL AMAUROSIS 11; LCA11	3614
MIM610612	LEBER CONGENITAL AMAUROSIS 12; LCA12	343035
MIM612712	LEBER CONGENITAL AMAUROSIS 13; LCA13	145226
MIM613341	LEBER CONGENITAL AMAUROSIS 14; LCA14	9227
MIM613843	LEBER CONGENITAL AMAUROSIS 15; LCA15	7287
MIM614186	LEBER CONGENITAL AMAUROSIS 16; LCA16	3769
MIM204100	LEBER CONGENITAL AMAUROSIS 2; LCA2	6121
MIM604232	LEBER CONGENITAL AMAUROSIS 3; LCA3	55812, 145226
MIM604393	LEBER CONGENITAL AMAUROSIS 4; LCA4	23746
MIM604537	LEBER CONGENITAL AMAUROSIS 5; LCA5	167691
MIM613826	LEBER CONGENITAL AMAUROSIS 6; LCA6	57096
MIM613829	LEBER CONGENITAL AMAUROSIS 7; LCA7	1406
MIM613835	LEBER CONGENITAL AMAUROSIS 8; LCA8	23418
MIM245900	LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY	3931
MIM604169	LEFT VENTRICULAR NONCOMPACTION 1; LVNC1	1837
MIM150600	LEGG-CALVE-PERTHES DISEASE; LCPD	1280
MIM608556	LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO	7100
MIM611431	LEGIUS SYNDROME	161742
MIM220111	LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC	10128
MIM308930	LEIGH SYNDROME, X-LINKED	5160
MIM256000	LEIGH SYNDROME; LS	374291, 55572, 91942, 1355, 4695, 4705, 617, 4722, 4723, 4724, 4728, 6834, 1738, 137682, 6389
MIM150699	LEIOMYOMA, UTERINE; UL	8091
MIM308940	LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME; DL-ATS	1288
MIM151100	LEOPARD SYNDROME 1	5781
MIM611554	LEOPARD SYNDROME 2	5894
MIM613707	LEOPARD SYNDROME 3	673
MIM607572	LEPROSY, SUSCEPTIBILITY TO, 2; LPRS2	5071, 135138
MIM246300	LEPROSY, SUSCEPTIBILITY TO, 3; LPRS3	7096, 7097
MIM610988	LEPROSY, SUSCEPTIBILITY TO, 4; LPRS4	4049
MIM613223	LEPROSY, SUSCEPTIBILITY TO, 5; LPRS5	7096
MIM127300	LERI-WEILL DYSCHONDROSTEOSIS; LWD	6473
MIM300322	LESCH-NYHAN SYNDROME; LNS	3251
MIM611890	LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; LAAHD	2733
MIM611369	LETHAL CONGENITAL CONTRACTURAL SYNDROME 3; LCCS3	23396
MIM253310	LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1	2733
MIM607598	LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2	2065
MIM613065	LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL	613
MIM601626	LEUKEMIA, ACUTE MYELOID; AML	4869, 2322, 1050, 6455, 64324, 23365, 2120, 8021, 8028, 861, 865, 8301, 54904, 8833, 3717, 26511, 4026, 4291, 9163, 3815
MIM151400	LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL	115761, 595, 5027, 406950
MIM608232	LEUKEMIA, CHRONIC MYELOID; CML	613
MIM116920	LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD	3689
MIM612840	LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3	83706
MIM169500	LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD	4001
MIM608804	LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2	57165
MIM260600	LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3	9255
MIM612233	LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4	3329
MIM610532	LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5	84668
MIM607694	LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7	11128
MIM611105	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL	55157
MIM613724	LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY	6342
MIM603896	LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM	1967, 8890, 8891, 8892, 8893
MIM612951	LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY	8635
MIM614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY	4056
MIM238320	LEYDIG CELL HYPOPLASIA, TYPE I	3973
MIM177200	LIDDLE SYNDROME	6338, 6340
MIM151623	LI-FRAUMENI SYNDROME 1; LFS1	1029, 7157
MIM609265	LI-FRAUMENI SYNDROME 2; LFS2	11200
MIM606593	LIG4 SYNDROME	3981
MIM603543	LIMB-MAMMARY SYNDROME; LMS	8626
MIM246650	LIPASE DEFICIENCY, COMBINED	64788
MIM608594	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1	10555
MIM269700	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2	26580
MIM612526	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3	857
MIM613327	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4	284119
MIM151660	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2	5468, 4000
MIM604367	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3	5468, 5506
MIM613877	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4; FPLD4	5346
MIM608709	LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD	84823
MIM201710	LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH	1583, 6770
MIM247100	LIPOID PROTEINOSIS OF URBACH AND WIETHE	1893
MIM151900	LIPOMATOSIS, MULTIPLE	8091
MIM611771	LIPOPROTEIN GLOMERULOPATHY; LPG	348
MIM607432	LISSENCEPHALY 1; LIS1	5048
MIM257320	LISSENCEPHALY 2; LIS2	5649
MIM611603	LISSENCEPHALY 3; LIS3	7846
MIM614019	LISSENCEPHALY 4; LIS4	54820
MIM300067	LISSENCEPHALY, X-LINKED, 1; LISX1	1641
MIM300215	LISSENCEPHALY, X-LINKED, 2; LISX2	170302
MIM613070	LIVER FAILURE, INFANTILE, TRANSIENT; LFIT	55687
MIM609192	LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A	7046
MIM610168	LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B	7048
MIM608967	LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A	7046
MIM610380	LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B	7048
MIM613795	LOEYS-DIETZ SYNDROME, TYPE 3; LDS3	4088
MIM192500	LONG QT SYNDROME 1; LQT1	3784
MIM611819	LONG QT SYNDROME 10; LQT10	6330
MIM611820	LONG QT SYNDROME 11; LQT11	10142
MIM612955	LONG QT SYNDROME 12; LQT12	6640
MIM613485	LONG QT SYNDROME 13; LQT13	3762
MIM613688	LONG QT SYNDROME 2; LQT2	3757
MIM603830	LONG QT SYNDROME 3; LQT3	6331
MIM613695	LONG QT SYNDROME 5; LQT5	3753
MIM613693	LONG QT SYNDROME 6; LQT6	9992
MIM611818	LONG QT SYNDROME 9; LQT9	859
MIM609016	LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY	3030
MIM152430	LONGEVITY 1	1071, 7099, 11216, 51441
MIM606460	LONGEVITY 2	140802
MIM613589	LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6; LDLCQ6	6272
MIM309000	LOWE OCULOCEREBRORENAL SYNDROME; OCRL	4952
MIM300260	LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL	4204
MIM309520	LUJAN-FRYNS SYNDROME	9968
MIM211980	LUNG CANCER	3845, 1548, 2064, 2074, 1326, 841, 3659, 5002, 5519, 673, 1956, 5290, 11186, 5071, 9940
MIM247420	LUTHERAN NULL	4059
MIM606690	LYMPHANGIOLEIOMYOMATOSIS; LAM	7248, 7249
MIM153100	LYMPHEDEMA, HEREDITARY, IA	2324
MIM613480	LYMPHEDEMA, HEREDITARY, IC	57165
MIM153200	LYMPHEDEMA, HEREDITARY, II	2303
MIM614038	LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA	2624
MIM153400	LYMPHEDEMA-DISTICHIASIS SYNDROME	2303
MIM236000	LYMPHOMA, HODGKIN	200942
MIM605027	LYMPHOMA, NON-HODGKIN, FAMILIAL	843, 5551, 8438
MIM613011	LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1	3702
MIM308240	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1	4068
MIM300635	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2	331
MIM120435	LYNCH SYNDROME I	4436
MIM222700	LYSINURIC PROTEIN INTOLERANCE; LPI	9056
MIM278000	LYSOSOMAL ACID LIPASE DEFICIENCY	3988
MIM109150	MACHADO-JOSEPH DISEASE; MJD	4287
MIM613075	MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS	54453
MIM614192	MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME; MMFD	84282
MIM605309	MACROCEPHALY/AUTISM SYNDROME	5728
MIM613545	MACROSTOMIA, ISOLATED	8643
MIM600208	MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS	4627
MIM613112	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED	81027
MIM603075	MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1	3078, 348, 629, 10878, 83872, 7098, 59338, 717, 1524
MIM611488	MACULAR DEGENERATION, AGE-RELATED, 10; ARMD10	7099
MIM611953	MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11	1471
MIM613784	MACULAR DEGENERATION, AGE-RELATED, 12; ARMD12	1524
MIM153800	MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2	24
MIM608895	MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3	10516
MIM610698	MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4	3075, 60681
MIM613761	MACULAR DEGENERATION, AGE-RELATED, 5; ARMD5	2074
MIM613757	MACULAR DEGENERATION, AGE-RELATED, 6; ARMD6	84839
MIM610149	MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7	5654
MIM613778	MACULAR DEGENERATION, AGE-RELATED, 8; ARMD8	387715
MIM611378	MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9	718
MIM300834	MACULAR DEGENERATION, X-LINKED ATROPHIC	6103
MIM153870	MACULAR DYSTROPHY, CONCENTRIC ANNULAR	7439
MIM217800	MACULAR DYSTROPHY, CORNEAL, 1; MCDC1	4166
MIM608051	MACULAR DYSTROPHY, RETINAL, 2; MCDR2	8842
MIM608161	MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET	7439, 5961
MIM153700	MACULAR DYSTROPHY, VITELLIFORM; VMD	7439
MIM609628	MAJEED SYNDROME	9663
MIM125480	MAJOR AFFECTIVE DISORDER 1; MAFD1	7494, 6531
MIM612371	MAJOR AFFECTIVE DISORDER 7; MAFD7	7494
MIM608516	MAJOR DEPRESSIVE DISORDER; MDD	3356, 431708, 431709, 121278, 2289
MIM248300	MAL DE MELEDA	57152
MIM609148	MALARIA, MILD, SUSCEPTIBILITY TO	259197
MIM611162	MALARIA, SUSCEPTIBILITY TO	3383, 1378, 6521, 1154, 2213, 2993, 114609, 2995, 948, 7124, 2532, 4843
MIM145600	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1	6261
MIM601887	MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5	779
MIM248360	MALONYL-CoA DECARBOXYLASE DEFICIENCY	23417
MIM248370	MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA	4000
MIM608612	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB	10269
MIM248450	MANITOBA OCULOTRICHOANAL SYNDROME; MOTA	158326
MIM248500	MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA	4125
MIM248510	MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB	4126
MIM248600	MAPLE SYRUP URINE DISEASE	593, 594, 1629, 1738
MIM154700	MARFAN SYNDROME; MFS	2200
MIM248800	MARINESCO-SJOGREN SYNDROME; MSS	64374
MIM154780	MARSHALL SYNDROME; MRSHS	1301
MIM212720	MARTSOLF SYNDROME	25782
MIM303350	MASA SYNDROME	3897
MIM613791	MASP2 DEFICIENCY	10747
MIM604308	MASS SYNDROME	2200
MIM248900	MAST SYNDROME	51324
MIM125850	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1	3630, 3172
MIM613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10	3630
MIM613375	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11	640
MIM125851	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2	2645
MIM600496	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3	6927
MIM606392	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4	3651
MIM606394	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6	4760
MIM610508	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7	8462
MIM609812	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION; MODY8	1056
MIM612225	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9	5078
MIM606391	MATURITY-ONSET DIABETES OF THE YOUNG; MODY	2645, 3172
MIM277000	MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME	54361
MIM155100	MAY-HEGGLIN ANOMALY; MHA	4627
MIM174800	MCCUNE-ALBRIGHT SYNDROME; MAS	2778
MIM236700	MCKUSICK-KAUFMAN SYNDROME; MKKS	8195
MIM300842	MCLEOD SYNDROME; MCLDS	7504
MIM600049	MDS1 GENE; MDS1	2122
MIM608978	MEACHAM SYNDROME	7490
MIM249000	MECKEL SYNDROME, TYPE 1; MKS1	54903
MIM614175	MECKEL SYNDROME, TYPE 10; MKS10	80776
MIM603194	MECKEL SYNDROME, TYPE 2; MKS2	51259
MIM607361	MECKEL SYNDROME, TYPE 3; MKS3	91147
MIM611134	MECKEL SYNDROME, TYPE 4; MKS4	80184
MIM611561	MECKEL SYNDROME, TYPE 5; MKS5	23322
MIM612284	MECKEL SYNDROME, TYPE 6; MKS6	57545
MIM267010	MECKEL SYNDROME, TYPE 7; MKS7	27031
MIM613885	MECKEL SYNDROME, TYPE 8; MKS8	79867
MIM614209	MECKEL SYNDROME, TYPE 9; MKS9	27077
MIM603860	MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2	7369
MIM155255	MEDULLOBLASTOMA; MDB	29, 324, 5727, 675, 8643, 1499, 1755, 51684
MIM604004	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1	23209
MIM613925	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A	220296
MIM613926	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B	220296
MIM261100	MEGALOBLASTIC ANEMIA 1	81693, 8029
MIM613839	MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY	1719
MIM224690	MEIER-GORLIN SYNDROME 1; MGORS1	4998
MIM613800	MEIER-GORLIN SYNDROME 2; MGORS2	5000
MIM613803	MEIER-GORLIN SYNDROME 3; MGORS3	23594
MIM613804	MEIER-GORLIN SYNDROME 4; MGORS4	81620
MIM613805	MEIER-GORLIN SYNDROME 5; MGORS5	990
MIM155600	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1	474388, 4157, 5728
MIM155601	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2	1029
MIM609048	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3	1019
MIM613099	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5	4157
MIM613972	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6	7517
MIM155755	MELANOMA-ASTROCYTOMA SYNDROME	1029
MIM606719	MELANOMA-PANCREATIC CANCER SYNDROME	1029
MIM309350	MELNICK-NEEDLES SYNDROME; MNS	2316
MIM155950	MELORHEOSTOSIS, ISOLATED	23592
MIM607174	MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO	5728, 4771, 4330
MIM309400	MENKES DISEASE	538
MIM300749	MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH	8573
MIM613670	MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES	27086
MIM613671	MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS	55084
MIM156200	MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1	55777
MIM614256	MENTAL RETARDATION, AUTOSOMAL DOMINANT 10; MRD10	10369
MIM614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11	2036
MIM614113	MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2	81704
MIM612580	MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3	1013
MIM612581	MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4	84623
MIM612621	MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5	8831
MIM613970	MENTAL RETARDATION, AUTOSOMAL DOMINANT 6; MRD6	2904
MIM614254	MENTAL RETARDATION, AUTOSOMAL DOMINANT 8; MRD8	2902
MIM614255	MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9	547
MIM249500	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1	8492
MIM611090	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12	6487
MIM613192	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13	83696
MIM614020	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14; MRT14	9524
MIM614202	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15	11253
MIM614249	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18; MRT18	9439
MIM607417	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2	51185
MIM608443	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3	54862
MIM611092	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6	2898
MIM611093	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7	7991
MIM136630	MENTAL RETARDATION, FRA12A TYPE	57609
MIM613443	MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS	4208
MIM610156	MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS	56623
MIM309530	MENTAL RETARDATION, X-LINKED 1; MRX1	23096
MIM300705	MENTAL RETARDATION, X-LINKED 17; MRX17	3028
MIM300844	MENTAL RETARDATION, X-LINKED 19; MRX19	6197
MIM300143	MENTAL RETARDATION, X-LINKED 21; MRX21	11141
MIM309541	MENTAL RETARDATION, X-LINKED 3; MRX3	2664
MIM300558	MENTAL RETARDATION, X-LINKED 30; MRX30	5063
MIM300849	MENTAL RETARDATION, X-LINKED 41; MRX41	2664
MIM300498	MENTAL RETARDATION, X-LINKED 45; MRX45	347344
MIM300436	MENTAL RETARDATION, X-LINKED 46; MRX46	9459
MIM300210	MENTAL RETARDATION, X-LINKED 58; MRX58	7102
MIM300387	MENTAL RETARDATION, X-LINKED 63; MRX63	2182
MIM300271	MENTAL RETARDATION, X-LINKED 72; MRX72	116442
MIM300852	MENTAL RETARDATION, X-LINKED 88; MRX88	186
MIM300848	MENTAL RETARDATION, X-LINKED 89; MRX89	7592
MIM309549	MENTAL RETARDATION, X-LINKED 9; MRX9	24140
MIM300850	MENTAL RETARDATION, X-LINKED 90; MRX90	1741
MIM300577	MENTAL RETARDATION, X-LINKED 91; MRX91	158866
MIM300851	MENTAL RETARDATION, X-LINKED 92; MRX92	641339
MIM300659	MENTAL RETARDATION, X-LINKED 93; MRX93	254065
MIM300716	MENTAL RETARDATION, X-LINKED 95; MRX95	84061
MIM300802	MENTAL RETARDATION, X-LINKED 96; MRX96	6855
MIM309548	MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE	2334
MIM300220	MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10	10075, 3028
MIM300055	MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13	4204
MIM300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14	65109
MIM300243	MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH	10479
MIM300534	MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ	8242
MIM300630	MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF	8905
MIM300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH	10159
MIM300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN	7319
MIM300799	MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR	51114
MIM309583	MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR	6611
MIM300706	MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST	10075
MIM300699	MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE; MRXSW	2892
MIM300486	MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE	4983
MIM300419	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX	170302
MIM300123	MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM	6658
MIM300354	MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT	8450
MIM309580	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1	546
MIM156240	MESOTHELIOMA, MALIGNANT; MESOM	7490
MIM156250	METACHONDROMATOSIS; METCDS	5781
MIM250100	METACHROMATIC LEUKODYSTROPHY	410
MIM249900	METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY	5660
MIM613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2	4318
MIM156400	METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE	5745
MIM156500	METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS	1300
MIM250460	METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS	6023
MIM156530	METATROPIC DYSPLASIA	59341
MIM250800	METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE	1727
MIM250790	METHEMOGLOBINEMIA TYPE IV	1528
MIM250850	METHIONINE ADENOSYLTRANSFERASE DEFICIENCY	4143
MIM250940	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	4548
MIM614105	METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; MMSDHD	4329
MIM277400	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE	25974
MIM277410	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE	27249
MIM277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	55788
MIM251000	METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY	4594
MIM613646	METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT	51293
MIM251100	METHYLMALONIC ACIDURIA, cblA TYPE	166785
MIM251110	METHYLMALONIC ACIDURIA, cblB TYPE	326625
MIM251120	METHYLMALONYL-CoA EPIMERASE DEFICIENCY	84693
MIM610377	MEVALONIC ACIDURIA; MEVA	4598
MIM613556	MICRO RNA 659; MIR659	10661
MIM210710	MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1	100151683
MIM210720	MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2	5116
MIM251200	MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1	79648, 23701
MIM604317	MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2	284403
MIM604804	MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3	55755
MIM604321	MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4	22995
MIM608716	MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5	259266
MIM608393	MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6	55835
MIM612703	MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7	6491
MIM607196	MICROCEPHALY, AMISH TYPE; MCPHA	60386
MIM614231	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS	51124
MIM613668	MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY	9440
MIM206920	MICROPHTHALMIA WITH LIMB ANOMALIES	64093
MIM610093	MICROPHTHALMIA, ISOLATED 2; MCOP2	338917
MIM611038	MICROPHTHALMIA, ISOLATED 3; MCOP3	30062
MIM613094	MICROPHTHALMIA, ISOLATED 4; MCOP4	392255
MIM611040	MICROPHTHALMIA, ISOLATED 5; MCOP5	83552
MIM613517	MICROPHTHALMIA, ISOLATED 6; MCOP6	646960
MIM613704	MICROPHTHALMIA, ISOLATED 7; MCOP7	9573
MIM212550	MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2	4990
MIM610426	MICROPHTHALMIA, ISOLATED, WITH CATARACT 4; MCOPCT4	1413
MIM610092	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3	338917
MIM611638	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5	6469
MIM613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6	392255, 9573
MIM300166	MICROPHTHALMIA, SYNDROMIC 2; MCOPS2	54880
MIM206900	MICROPHTHALMIA, SYNDROMIC 3; MCOPS3	6657
MIM610125	MICROPHTHALMIA, SYNDROMIC 5; MCOPS5	5015
MIM607932	MICROPHTHALMIA, SYNDROMIC 6; MCOPS6	652
MIM309801	MICROPHTHALMIA, SYNDROMIC 7; MCOPS7	3052
MIM601349	MICROPHTHALMIA, SYNDROMIC 8; MCOPS8	8724
MIM601186	MICROPHTHALMIA, SYNDROMIC 9; MCOPS9	64220
MIM612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE	3199
MIM603933	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1	1636, 7422
MIM612623	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2	2056
MIM612624	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3	1636
MIM612628	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4; MVCD4	3557
MIM612633	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5; MVCD5	5444
MIM612634	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6; MVCD6	6648
MIM612635	MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7	3077
MIM157300	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1	2099, 1909, 7124
MIM141500	MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1	773
MIM602481	MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2	477
MIM609634	MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3	6323
MIM613656	MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13	338567
MIM247200	MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS	7531, 5048
MIM255320	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA	6261
MIM157600	MIRROR MOVEMENTS 1; MRMV1	1630
MIM276300	MISMATCH REPAIR CANCER SYNDROME	5395, 324, 4436, 2956, 4292
MIM252010	MITOCHONDRIAL COMPLEX I DEFICIENCY	55572, 79133, 91942, 25915, 4694, 80224, 4719, 4720, 4723, 4724, 4726, 126328, 4729, 29078, 51103
MIM252011	MITOCHONDRIAL COMPLEX II DEFICIENCY	644096, 6389
MIM124000	MITOCHONDRIAL COMPLEX III DEFICIENCY	617, 54902, 27089, 7381
MIM220110	MITOCHONDRIAL COMPLEX IV DEFICIENCY	1340, 22868, 493753
MIM604273	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1	54968, 91647
MIM614052	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2	54968
MIM614053	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3	514
MIM603041	MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1	5428, 1890
MIM609560	MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2	8803, 7084
MIM251880	MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3	4358, 56652, 8803, 7084, 1716
MIM203700	MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A	5428
MIM613662	MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B	5428
MIM612073	MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH METHYLMALONIC ACIDURIA); MTDPS5	8803
MIM256810	MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6	4358
MIM271245	MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7	56652
MIM612075	MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A	50484
MIM245400	MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9	8802
MIM610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY	5250
MIM254130	MIYOSHI MUSCULAR DYSTROPHY 1; MMD1	8291
MIM613318	MIYOSHI MUSCULAR DYSTROPHY 2; MMD2	221938
MIM613319	MIYOSHI MUSCULAR DYSTROPHY 3; MMD3	203859
MIM304700	MOHR-TRANEBJAERG SYNDROME; MTS	1678
MIM252150	MOLYBDENUM COFACTOR DEFICIENCY	10243, 4337, 4338
MIM158000	MONILETHRIX	3887, 3889, 3892
MIM613353	MONONEUROPATHY OF THE MEDIAN NERVE, MILD; MNMN	79628
MIM257300	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1	701
MIM614114	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2	9702
MIM600648	MOVED TO 113800	3858
MIM606437	MOVED TO 121200	3785
MIM609569	MOVED TO 132100	100528023
MIM602036	MOVED TO 133200	4014
MIM608637	MOVED TO 143095	9469
MIM607322	MOVED TO 143470	1071
MIM605839	MOVED TO 150800	2271
MIM163955	MOVED TO 163950 AND 610733	5781, 6654
MIM602585	MOVED TO 164280	4613
MIM201460	MOVED TO 201475	33
MIM278400	MOVED TO 203290	7306
MIM610233	MOVED TO 211900	2591
MIM612652	MOVED TO 219150	5832
MIM600095	MOVED TO 246560	6468, 100049542
MIM606858	MOVED TO 251200	79648
MIM613732	MOVED TO 256040	5696
MIM611452	MOVED TO 278150	10161
MIM300639	MOVED TO 300354	8450
MIM300069	MOVED TO 302060	6901
MIM300183	MOVED TO 302060	6901
MIM300432	MOVED TO 308350	170302
MIM611918	MOVED TO 601869	126326
MIM606617	MOVED TO 604169	1837
MIM613557	MOVED TO 604213	29899
MIM610854	MOVED TO 610682	10491
MIM612443	MOVED TO 612319	79152
MIM235730	MOWAT-WILSON SYNDROME	9839
MIM607151	MOYAMOYA DISEASE 2; MYMY2	57674
MIM614042	MOYAMOYA DISEASE 5; MYMY5	59
MIM191900	MUCKLE-WELLS SYNDROME; MWS	114548
MIM252500	MUCOLIPIDOSIS II ALPHA/BETA	79158
MIM252600	MUCOLIPIDOSIS III ALPHA/BETA	79158
MIM252605	MUCOLIPIDOSIS III GAMMA	84572
MIM252650	MUCOLIPIDOSIS IV	57192
MIM309900	MUCOPOLYSACCHARIDOSIS TYPE II	3423
MIM252900	MUCOPOLYSACCHARIDOSIS TYPE IIIA	6448
MIM252920	MUCOPOLYSACCHARIDOSIS TYPE IIIB	4669
MIM252930	MUCOPOLYSACCHARIDOSIS TYPE IIIC	138050
MIM252940	MUCOPOLYSACCHARIDOSIS TYPE IIID	2799
MIM253000	MUCOPOLYSACCHARIDOSIS TYPE IVA	2588
MIM253010	MUCOPOLYSACCHARIDOSIS TYPE IVB	2720
MIM601492	MUCOPOLYSACCHARIDOSIS TYPE IX	3373
MIM253200	MUCOPOLYSACCHARIDOSIS TYPE VI	411
MIM253220	MUCOPOLYSACCHARIDOSIS TYPE VII	2990
MIM602849	MUENKE SYNDROME; MNKES	2261
MIM158320	MUIR-TORRE SYNDROME; MRTES	4436, 4292
MIM253250	MULIBREY NANISM	4591
MIM158330	MULLERIAN APLASIA AND HYPERANDROGENISM	54361
MIM231680	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD	2108, 2109, 2110
MIM614080	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1	23556
MIM131100	MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1	4221
MIM171400	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A	5979
MIM162300	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B	5979
MIM610755	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4	1027
MIM245600	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS	26229
MIM605711	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1	27247
MIM614299	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2; MMDS2	388962
MIM265000	MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS	1146
MIM253290	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS	1134, 1144, 1146
MIM126200	MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS	5133, 3119, 3123, 100133941, 5788, 4261, 3575
MIM132800	MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE	7046
MIM272200	MULTIPLE SULFATASE DEFICIENCY; MSD	285362
MIM186500	MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1	9241
MIM610017	MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2	8200
MIM612961	MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3	2254
MIM613834	MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME	59
MIM614160	MUSCLE HYPERTROPHY; MSLHP	2660
MIM300376	MUSCULAR DYSTROPHY, BECKER TYPE; BMD	4618, 1756
MIM607855	MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A	3908
MIM613204	MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY	3679
MIM613205	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED	4000
MIM602541	MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC	1120
MIM310200	MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD	4618, 1756
MIM159000	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A	9499
MIM159001	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B	4000
MIM607801	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C	859
MIM253600	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A	825
MIM253601	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B	8291
MIM253700	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C	6445
MIM608099	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D	6442
MIM604286	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E	6443
MIM601287	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F	6444
MIM601954	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G	8557
MIM254110	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H	22954
MIM608807	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J	7273
MIM611307	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L; LGMD2L	203859
MIM613723	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q; LGMD2Q	5339
MIM236670	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1	29954, 79147, 10585, 2218, 9215
MIM613150	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2	29954
MIM253280	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3	79147, 55624
MIM253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4	2218
MIM613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5	79147
MIM613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6	9215
MIM613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1	10585
MIM613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2	29954
MIM613151	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3	55624
MIM608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6	9215
MIM606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5	79147
MIM613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4	2218
MIM609308	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1	10585
MIM613158	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2	29954
MIM613157	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3	55624
MIM611588	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MDDGC4	2218
MIM607155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5	79147
MIM613818	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7; MDDGC7	1605
MIM254300	MYASTHENIA, LIMB-GIRDLE, FAMILIAL	285489, 375790
MIM614198	MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE	6329
MIM608931	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	5913, 1140, 1145, 4593
MIM254210	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA	1103
MIM608930	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL	1134, 1144, 1145
MIM601462	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS	1134, 1140, 1144, 1145
MIM613796	MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE	6772
MIM607948	MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO	345611, 4159, 3431, 30835, 1154, 3458, 3459, 6556, 114609, 6347, 1522
MIM612260	MYD88 DEFICIENCY; MYD88D	4615
MIM614286	MYELODYSPLASTIC SYNDROME; MDS	171023, 23451
MIM254450	MYELOFIBROSIS	10019, 3717
MIM254500	MYELOMA, MULTIPLE	3662, 595, 3981
MIM254600	MYELOPEROXIDASE DEFICIENCY; MPOD	4353
MIM131440	MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	5159, 2120
MIM608446	MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	2099, 2155, 7292, 7804, 2729
MIM159900	MYOCLONIC DYSTONIA	1813, 8910
MIM254780	MYOCLONIC EPILEPSY OF LAFORA	378884, 7957
MIM254800	MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG	1476
MIM605021	MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME	57465
MIM268200	MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE	23175
MIM255125	MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML	23479
MIM160150	MYOPATHY, CENTRONUCLEAR, 1; CNM1	4618, 64419, 1785
MIM255200	MYOPATHY, CENTRONUCLEAR, 2; CNM2	274
MIM310400	MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX	4534
MIM612540	MYOPATHY, CONGENITAL, COMPTON-NORTH	1272
MIM255310	MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD	58
MIM160500	MYOPATHY, DISTAL, 1; MPD1	4625
MIM606070	MYOPATHY, DISTAL, 2; MPD2	9782
MIM614065	MYOPATHY, DISTAL, 4; MPD4	2318
MIM606768	MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT	8291
MIM611705	MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY	7273
MIM600462	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1; MLASA1	80324
MIM613561	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2	51067
MIM613076	MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY	2671
MIM612954	MYOPATHY, MYOFIBRILLAR 6, MFM6	9531
MIM601419	MYOPATHY, MYOFIBRILLAR, 1; MFM1	1674
MIM608810	MYOPATHY, MYOFIBRILLAR, 2, MFM2	1410
MIM609200	MYOPATHY, MYOFIBRILLAR, 3; MFM3	9499
MIM609452	MYOPATHY, MYOFIBRILLAR, 4; MFM4	11155
MIM609524	MYOPATHY, MYOFIBRILLAR, 5; MFM5	2318
MIM613869	MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED	1410
MIM608358	MYOPATHY, MYOSIN STORAGE	4625
MIM300718	MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET	2273
MIM300717	MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE	2273
MIM182920	MYOPATHY, SPHEROID BODY	9499
MIM300696	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA	2273
MIM608367	MYOPIA 17, AUTOSOMAL DOMINANT; MYP17	393093
MIM614167	MYOPIA 21, AUTOSOMAL DOMINANT; MYP21	84146
MIM614292	MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION; MCVD	55214
MIM255600	MYOSCLEROSIS, AUTOSOMAL RECESSIVE	1292
MIM160800	MYOTONIA CONGENITA, AUTOSOMAL DOMINANT	1180
MIM255700	MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE	1180
MIM608390	MYOTONIA, POTASSIUM-AGGRAVATED	6329
MIM160900	MYOTONIC DYSTROPHY 1; DM1	1760
MIM602668	MYOTONIC DYSTROPHY 2; DM2	7555
MIM613488	MYXOID LIPOSARCOMA	1649
MIM255960	MYXOMA, INTRACARDIAC	5573
MIM614063	N-ACETYLASPARTATE DEFICIENCY; NACED	339983
MIM237310	N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY	162417
MIM161000	NAEGELI SYNDROME	3861
MIM614157	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10; NDNC10	8323
MIM151600	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3	5333
MIM206800	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4; NDNC4	343637
MIM607523	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8	1294
MIM161200	NAIL-PATELLA SYNDROME; NPS	4010
MIM302350	NANCE-HORAN SYNDROME; NHS	4810
MIM609549	NANOPHTHALMOS 2; NNO2	83552
MIM161400	NARCOLEPSY 1; NRCLP1	100918, 727699, 3060
MIM614250	NARCOLEPSY 7; NRCLP7	4340
MIM607107	NASOPHARYNGEAL CARCINOMA	7157
MIM161550	NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2	7157
MIM601214	NAXOS DISEASE	3728
MIM609284	NEMALINE MYOPATHY 1; NEM1	7170
MIM256030	NEMALINE MYOPATHY 2; NEM2	4703
MIM161800	NEMALINE MYOPATHY 3; NEM3	58
MIM609285	NEMALINE MYOPATHY 4; NEM4	7169
MIM605355	NEMALINE MYOPATHY 5; NEM5	7138
MIM609273	NEMALINE MYOPATHY 6; NEM6	390594
MIM610687	NEMALINE MYOPATHY 7; NEM7	1073
MIM300539	NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD	554
MIM605990	NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO	22891
MIM310468	NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN	1184
MIM612286	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1; NPHLOP1	6569
MIM612287	NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2	9368
MIM256100	NEPHRONOPHTHISIS 1; NPHP1	4867
MIM613550	NEPHRONOPHTHISIS 11; NPHP11	91147
MIM613820	NEPHRONOPHTHISIS 12; NPHP12	79809
MIM602088	NEPHRONOPHTHISIS 2; NPHP2	27130
MIM604387	NEPHRONOPHTHISIS 3; NPHP3	27031
MIM606966	NEPHRONOPHTHISIS 4; NPHP4	261734
MIM611498	NEPHRONOPHTHISIS 7; NPHP7	84662
MIM613824	NEPHRONOPHTHISIS 9; NPHP9	284086
MIM613159	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1	63929
MIM609057	NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS	977
MIM256300	NEPHROTIC SYNDROME, TYPE 1; NPHS1	4868
MIM600995	NEPHROTIC SYNDROME, TYPE 2; NPHS2	7827
MIM610725	NEPHROTIC SYNDROME, TYPE 3; NPHS3	51196
MIM256370	NEPHROTIC SYNDROME, TYPE 4; NPHS4	7490
MIM614199	NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5	3913
MIM614196	NEPHROTIC SYNDROME, TYPE 6; NPHS6	5800
MIM614008	NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS	8815
MIM256500	NETHERTON SYNDROME; NETH	11005
MIM182940	NEURAL TUBE DEFECTS	81839, 6347, 6862
MIM601634	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE	4522, 4524, 4548, 4552
MIM256550	NEURAMINIDASE DEFICIENCY	4758
MIM256700	NEUROBLASTOMA, SUSCEPTIBILITY TO	23095, 4830, 8929, 238
MIM613013	NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2	8929
MIM613014	NEUROBLASTOMA, SUSCEPTIBILITY TO, 3; NBLST3	238
MIM613068	NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY	2348
MIM234200	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1	80025
MIM256600	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A	8398
MIM610217	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B	8398
MIM606159	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3	2512
MIM614298	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4	83636
MIM162210	NEUROFIBROMATOSIS, FAMILIAL SPINAL	4763
MIM162200	NEUROFIBROMATOSIS, TYPE I; NF1	4436, 4763
MIM101000	NEUROFIBROMATOSIS, TYPE II; NF2	4771
MIM601321	NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS	4763
MIM158590	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A	26353
MIM608634	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B	3315
MIM613376	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC; HMN2C	8988
MIM600794	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; HMN5A	2617, 26580
MIM607641	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B	1639
MIM605253	NEUROPATHY, CONGENITAL HYPOMYELINATING	4359, 1959
MIM162400	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A	10558
MIM613640	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C	9517
MIM201300	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A	65125
MIM613115	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B	54463
MIM223900	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3	8518
MIM608654	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5	4803
MIM613708	NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D	51062
MIM614116	NEUROPATHY, HEREDITARY SENSORY, TYPE IE; HSN1E	1786
MIM614213	NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C	547
MIM256840	NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE	22948
MIM162500	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP	5376
MIM610717	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM	57104
MIM607847	NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS	2672
MIM202700	NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1	2672, 1991
MIM613107	NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2	2672
MIM610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3	10456
MIM612541	NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4	92579
MIM300299	NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX	7454
MIM608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME	5880
MIM162830	NEUTROPHILIA, HEREDITARY	1441
MIM601451	NEVO SYNDROME	5351
MIM162900	NEVUS, EPIDERMAL	5290, 2261
MIM607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD	6017
MIM257200	NIEMANN-PICK DISEASE, TYPE A	6609
MIM607616	NIEMANN-PICK DISEASE, TYPE B	6609
MIM257220	NIEMANN-PICK DISEASE, TYPE C1; NPC1	4864
MIM607625	NIEMANN-PICK DISEASE, TYPE C2	10577
MIM610445	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1	6010
MIM163500	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2	5158
MIM610444	NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3	2779
MIM310500	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A	60506
MIM257270	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B	2916
MIM613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C	4308
MIM613830	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D	9187
MIM300071	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A	778
MIM610427	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B; CSNB2B	57010
MIM251260	NIJMEGEN BREAKAGE SYNDROME	4683
MIM613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD	10111
MIM605820	NONAKA MYOPATHY; NM	10020
MIM258660	NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO	2811
MIM163950	NOONAN SYNDROME 1; NS1	5781
MIM609942	NOONAN SYNDROME 3; NS3	3845
MIM610733	NOONAN SYNDROME 4; NS4	6654
MIM611553	NOONAN SYNDROME 5; NS5	5894
MIM613224	NOONAN SYNDROME 6; NS6	4893
MIM613706	NOONAN SYNDROME 7; NS7	673
MIM607721	NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR; NSLH	8036
MIM613563	NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL	867
MIM310600	NORRIE DISEASE; ND	4693
MIM604901	NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC	84916
MIM601696	NOVELTY SEEKING PERSONALITY TRAIT	1815
MIM310700	NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1	90167
MIM300814	NYSTAGMUS 6, CONGENITAL, X-LINKED; NYS6	4935
MIM601665	OBESITY	51738, 5167, 4159, 4160, 5697, 5443, 5468, 6492, 353126, 56694, 9607, 133522, 154, 155, 181, 7350, 7351, 7352, 9672, 404683, 79068, 8431
MIM613886	OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY	4915
MIM164230	OBSESSIVE-COMPULSIVE DISORDER; OCD	3356, 627, 6532
MIM304150	OCCIPITAL HORN SYNDROME; OHS	538
MIM613587	OCCULT MACULAR DYSTROPHY; OCMD	94137
MIM612109	OCULOAURICULAR SYNDROME	3166
MIM257850	OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE	2697
MIM164200	OCULODENTODIGITAL DYSPLASIA; ODDD	2697
MIM164300	OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD	8106
MIM257980	ODONTOONYCHODERMAL DYSPLASIA; OODD	80326
MIM300855	OGDEN SYNDROME; OGDNS	8260
MIM258100	OGUCHI DISEASE 1	6011, 6295
MIM613411	OGUCHI DISEASE 2	6011
MIM613949	OKT4 EPITOPE DEFICIENCY	920
MIM608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME	8313
MIM603554	OMENN SYNDROME	5896, 5897, 64421
MIM258315	OMODYSPLASIA 1; OMOD1	10082
MIM610064	OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1	4200
MIM300000	OPITZ GBBB SYNDROME, X-LINKED	4281
MIM305450	OPITZ-KAVEGGIA SYNDROME; OKS	9968
MIM165500	OPTIC ATROPHY 1; OPA1	4976
MIM165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT	80207
MIM612989	OPTIC ATROPHY 7; OPA7	84233
MIM125250	OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	4976
MIM165550	OPTIC NERVE HYPOPLASIA, BILATERAL	5080
MIM311150	OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA	1678
MIM311250	ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO	5009
MIM119530	OROFACIAL CLEFT 1; OFC1	4524, 4548
MIM613705	OROFACIAL CLEFT 10; OFC10	7341
MIM600625	OROFACIAL CLEFT 11; OFC11	652
MIM608874	OROFACIAL CLEFT 5; OFC5	4487
MIM608864	OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6	3664
MIM311200	OROFACIODIGITAL SYNDROME I; OFD1	8481
MIM258900	OROTIC ACIDURIA	7372
MIM604715	ORTHOSTATIC INTOLERANCE	6530
MIM166350	OSSEOUS HETEROPLASIA, PROGRESSIVE; POH	2778
MIM602475	OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL	1291, 5167
MIM165720	OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1	2487
MIM140600	OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2	4148
MIM607850	OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3	54829, 4148
MIM612400	OSTEOARTHRITIS SUSCEPTIBILITY 5; OS5	8200
MIM604864	OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA	1280
MIM165800	OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS; OD	176
MIM166200	OSTEOGENESIS IMPERFECTA, TYPE I	1277
MIM166210	OSTEOGENESIS IMPERFECTA, TYPE II	1277, 1278
MIM259420	OSTEOGENESIS IMPERFECTA, TYPE III	1277, 1278
MIM166220	OSTEOGENESIS IMPERFECTA, TYPE IV	1277, 1278
MIM259440	OSTEOGENESIS IMPERFECTA, TYPE IX	5479
MIM613982	OSTEOGENESIS IMPERFECTA, TYPE VI; OI6	5176
MIM610682	OSTEOGENESIS IMPERFECTA, TYPE VII	10491
MIM610915	OSTEOGENESIS IMPERFECTA, TYPE VIII	64175
MIM613848	OSTEOGENESIS IMPERFECTA, TYPE X	871
MIM613849	OSTEOGENESIS IMPERFECTA, TYPE XII; OI12	121340
MIM259500	OSTEOGENIC SARCOMA	5925, 8792, 11200, 7157
MIM166250	OSTEOGLOPHONIC DYSPLASIA; OGD	2260
MIM612852	OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP	3557
MIM300373	OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS	139285
MIM607634	OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1	4041
MIM166600	OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2	1186
MIM259700	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1	28962, 10312
MIM259710	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2	8600
MIM259730	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3	760
MIM611490	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4	1186
MIM259720	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5	28962
MIM611497	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6	9842
MIM612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7	8792
MIM166710	OSTEOPOROSIS	799, 8572, 100188853, 100188854, 4041, 3569, 1277, 7421, 1278
MIM259770	OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG	4041
MIM166780	OTOFACIOCERVICAL SYNDROME	2138
MIM311300	OTOPALATODIGITAL SYNDROME, TYPE I; OPD1	2316
MIM304120	OTOPALATODIGITAL SYNDROME, TYPE II; OPD2	2316
MIM215150	OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED	1280, 1302
MIM167000	OVARIAN CANCER	4978, 5290, 207, 5071, 1499, 999
MIM233300	OVARIAN DYSGENESIS 1; ODG1	2492
MIM300510	OVARIAN DYSGENESIS 2; ODG2	9210
MIM608115	OVARIAN HYPERSTIMULATION SYNDROME	2492
MIM600176	PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS	284403
MIM167200	PACHYONYCHIA CONGENITA, TYPE 1; PC1	3853, 3868
MIM167210	PACHYONYCHIA CONGENITA, TYPE 2; PC2	3854, 3872
MIM602080	PAGET DISEASE OF BONE; PDB	94003, 8792, 8878
MIM239000	PAGET DISEASE, JUVENILE	4982
MIM146510	PALLISTER-HALL SYNDROME; PHS	2737
MIM610644	PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL	284654
MIM144200	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK	3848, 3857, 3868
MIM613000	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL; FNEPPK	3868
MIM600962	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK	3848, 3868
MIM260370	PANCREATIC AGENESIS, CONGENITAL; PAGEN	3651
MIM609069	PANCREATIC AND CEREBELLAR AGENESIS; PACA	256297
MIM260350	PANCREATIC CANCER	3845, 675, 7873, 23022, 7157
MIM606856	PANCREATIC CANCER, SUSCEPTIBILITY TO, 1	23022
MIM613347	PANCREATIC CANCER, SUSCEPTIBILITY TO, 2	675
MIM613348	PANCREATIC CANCER, SUSCEPTIBILITY TO, 3	79728
MIM167800	PANCREATITIS, HEREDITARY; PCTT	5644, 6690, 1080, 11330
MIM312000	PANHYPOPITUITARISM, X-LINKED; PHPX	6658
MIM167870	PANIC DISORDER 1; PAND1	1312
MIM260500	PAPILLOMA OF CHOROID PLEXUS	7157
MIM245000	PAPILLON-LEFEVRE SYNDROME; PALS	1075
MIM120330	PAPILLORENAL SYNDROME	5076
MIM606864	PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	6390, 6391, 6392
MIM168000	PARAGANGLIOMAS 1; PGL1	6392
MIM601650	PARAGANGLIOMAS 2; PGL2	54949
MIM605373	PARAGANGLIOMAS 3; PGL3	6391
MIM115310	PARAGANGLIOMAS 4; PGL4	6390
MIM614165	PARAGANGLIOMAS 5; PGL5	6389
MIM168300	PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC	6329
MIM168400	PARASTREMMATIC DWARFISM	59341
MIM608266	PARATHYROID CARCINOMA	79577
MIM609597	PARIETAL FORAMINA 2; PFM2	60529
MIM168550	PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD	4488
MIM168500	PARIETAL FORAMINA; PFM	60529, 4488
MIM608355	PARKES WEBER SYNDROME	5921
MIM168601	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1	6622
MIM607688	PARKINSON DISEASE 11, AUTOSOMAL DOMINANT; PARK11	26058
MIM610297	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13	27429
MIM612953	PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14	8398
MIM260300	PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15	25793
MIM614203	PARKINSON DISEASE 17; PARK17	55737
MIM614251	PARKINSON DISEASE 18; PARK18	1981
MIM600116	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2	5071
MIM605543	PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4	6622
MIM613643	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT; PARK5	7345
MIM605909	PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6	65018
MIM606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7	11315
MIM607060	PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8	120892
MIM168600	PARKINSON DISEASE, LATE-ONSET; PD	1815, 677662, 170534, 4137, 4929, 1621, 4729, 126, 9627, 26281, 7345, 5072, 6908
MIM260540	PARKINSON-DEMENTIA SYNDROME	4137
MIM613135	PARKINSONISM-DYSTONIA, INFANTILE; PKDYS	6531
MIM167400	PAROXYSMAL EXTREME PAIN DISORDER	6335
MIM300818	PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PNH	5277
MIM118800	PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1	25953
MIM309510	PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS	170302
MIM169150	PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM	5961
MIM270300	PEELING SKIN SYNDROME	1041, 9333
MIM609796	PEELING SKIN SYNDROME, ACRAL TYPE	9333
MIM169400	PELGER-HUET ANOMALY; PHA	3930
MIM312080	PELIZAEUS-MERZBACHER DISEASE; PMD	5354
MIM176780	PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO	3915
MIM274600	PENDRED SYNDROME; PDS	5172
MIM260800	PENTOSURIA	51181
MIM142680	PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT	7132
MIM170650	PERIODONTITIS, AGGRESSIVE, 1	1075
MIM609136	PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH	6663
MIM261500	PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS	8288
MIM264470	PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY	51
MIM233400	PERRAULT SYNDROME; PRLTS	3295
MIM168605	PERRY SYNDROME	1639
MIM261550	PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS	268, 269
MIM604229	PETERS ANOMALY	1545, 5308, 5080
MIM261540	PETERS-PLUS SYNDROME	145173
MIM175200	PEUTZ-JEGHERS SYNDROME; PJS	6794
MIM101600	PFEIFFER SYNDROME	2260, 2263
MIM261600	PHENYLKETONURIA; PKU	5053
MIM171300	PHEOCHROMOCYTOMA	7428, 4149, 23095, 5979, 55654, 2668, 6390, 6392
MIM261650	PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL	5106
MIM601815	PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY	26227
MIM300653	PHOSPHOGLYCERATE KINASE 1 DEFICIENCY	5230
MIM300661	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY	5631
MIM610992	PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY	29968
MIM614023	PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD	5723
MIM172700	PICK DISEASE OF BRAIN	5663, 4137
MIM172800	PIEBALD TRAIT; PBT	6591, 3815
MIM609049	PIERSON SYNDROME	3913
MIM610489	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1	5573
MIM610475	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2	50940
MIM614190	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3; PPNAD3	8622
MIM172870	PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA	23418
MIM132600	PILOMATRIXOMA	1499, 4595
MIM262190	PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES	3643
MIM610954	PITT-HOPKINS SYNDROME; PTHS	6925
MIM219090	PITUITARY ADENOMA, ACTH-SECRETING	9049, 2778
MIM102200	PITUITARY ADENOMA, GROWTH HORMONE-SECRETING	9049, 6755, 2778
MIM600634	PITUITARY ADENOMA, PROLACTIN-SECRETING	9049
MIM613038	PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1	5449
MIM262600	PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2	5449, 8022, 5626
MIM221750	PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3	8022
MIM262700	PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4	89884
MIM613986	PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6	5015
MIM614101	PLASMA FIBRONECTIN DEFICIENCY	2335
MIM613329	PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY	5054
MIM217090	PLASMINOGEN DEFICIENCY, TYPE I	5340
MIM248310	PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL	3383, 948, 7124, 4843
MIM601399	PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY	861
MIM608404	PLATELET GLYCOPROTEIN IV DEFICIENCY	948
MIM614278	PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY; PAFAD	7941
MIM151210	PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT	1280
MIM601200	PLEUROPULMONARY BLASTOMA; PPB	23405
MIM173600	PNEUMOTHORAX, PRIMARY SPONTANEOUS	201163
MIM604173	POIKILODERMA WITH NEUTROPENIA; PN	79650
MIM173900	POLYCYSTIC KIDNEY DISEASE 1; PKD1	5310
MIM613095	POLYCYSTIC KIDNEY DISEASE 2; PKD2	5311
MIM263200	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD	5314
MIM221770	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL	7305, 54209
MIM174050	POLYCYSTIC LIVER DISEASE; PCLD	5589, 11231
MIM184700	POLYCYSTIC OVARY SYNDROME 1; PCOS1	10468
MIM263300	POLYCYTHEMIA VERA	3717
MIM174200	POLYDACTYLY, POSTAXIAL, TYPE A1; PAPA1	2737
MIM174500	POLYDACTYLY, PREAXIAL II; PPD2	6469, 64327
MIM174700	POLYDACTYLY, PREAXIAL IV	2737
MIM611087	POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE	92335
MIM613180	POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA	51807
MIM606854	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	9289
MIM300388	POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP	27286
MIM610031	POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC; PMGYSA	347733
MIM612674	POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC	26090
MIM610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2	657
MIM607596	PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A	7443
MIM277470	PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A	283989
MIM612389	PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B	80746
MIM612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C	79042
MIM613811	PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D	51091
MIM225753	PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4	283989
MIM611523	PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6	57038
MIM119500	POPLITEAL PTERYGIUM SYNDROME; PPS	3664
MIM175780	PORENCEPHALY 1; POREN1	1282
MIM175900	POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1	9733
MIM176100	PORPHYRIA CUTANEA TARDA	3077, 7389
MIM176200	PORPHYRIA VARIEGATA	3077, 5498
MIM612740	PORPHYRIA, ACUTE HEPATIC	210
MIM176000	PORPHYRIA, ACUTE INTERMITTENT	3145
MIM263700	PORPHYRIA, CONGENITAL ERYTHROPOIETIC	7390
MIM609033	POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1	28982
MIM152427	POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2	84920
MIM176270	PRADER-WILLI SYNDROME; PWS	4692, 6638
MIM176305	PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS	3209
MIM176400	PRECOCIOUS PUBERTY, CENTRAL	84634
MIM176410	PRECOCIOUS PUBERTY, MALE-LIMITED	3973
MIM189800	PREECLAMPSIA/ECLAMPSIA 1; PEE1	2052, 219736, 4846
MIM609404	PREECLAMPSIA/ECLAMPSIA 4; PEE4	219736
MIM612423	PREKALLIKREIN DEFICIENCY	3818
MIM176430	PREMATURE CHROMATID SEPARATION TRAIT; PCS	701
MIM311360	PREMATURE OVARIAN FAILURE 1; POF1	2332
MIM300511	PREMATURE OVARIAN FAILURE 2A; POF2A	1730
MIM300604	PREMATURE OVARIAN FAILURE 2B; POF2B	79983
MIM608996	PREMATURE OVARIAN FAILURE 3; POF3	668
MIM611548	PREMATURE OVARIAN FAILURE 5; POF5	135935
MIM612310	PREMATURE OVARIAN FAILURE 6; POF6	344018
MIM612964	PREMATURE OVARIAN FAILURE 7; POF7	2516
MIM610504	PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM	871
MIM606353	PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ	57679
MIM157640	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1; PEOA1	291, 5428
MIM609283	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2; PEOA2	291
MIM609286	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3; PEOA3	56652
MIM610131	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4; PEOA4	11232
MIM613077	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 5; PEOA5	50484
MIM258450	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; PEOB	5428
MIM113900	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A	6331, 8184
MIM604559	PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B	54795
MIM170100	PROLIDASE DEFICIENCY	5184
MIM225790	PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH	55640
MIM608415	PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS	8787, 388531
MIM609734	PROOPIOMELANOCORTIN DEFICIENCY	5443
MIM312060	PROPERDIN DEFICIENCY, X-LINKED; CFPD	5199
MIM606054	PROPIONIC ACIDEMIA	5095, 5096
MIM600955	PROPROTEIN CONVERTASE 1/3 DEFICIENCY	5122
MIM176807	PROSTATE CANCER	6928, 3092, 1316, 7991, 9566, 5728, 347747, 367, 60528, 100188789, 4481, 619402, 3732, 7834, 675, 8379, 11200, 408259, 408260, 463, 999, 4601
MIM601518	PROSTATE CANCER, HEREDITARY, 1; HPC1	6041
MIM611955	PROSTATE CANCER, HEREDITARY, 11; HPC11	6928
MIM611868	PROSTATE CANCER, HEREDITARY, 12; HPC12	23301
MIM611928	PROSTATE CANCER, HEREDITARY, 13; HPC13	4477
MIM603688	PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY	2048
MIM614024	PROTEIN Z DEFICIENCY	8858
MIM601698	PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, N, POLYPEPTIDE 2; PTPRN2	60681
MIM308990	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	1184
MIM176920	PROTEUS SYNDROME	5728, 207
MIM613679	PROTHROMBIN DEFICIENCY, CONGENITAL	2147
MIM300752	PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP	212
MIM177000	PROTOPORPHYRIA, ERYTHROPOIETIC; EPP	2235
MIM177170	PSEUDOACHONDROPLASIA; PSACH	1311
MIM612318	PSEUDOFOLLICULITIS BARBAE	9119
MIM177720	PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK	10774
MIM177735	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A	4306
MIM264350	PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B	6337, 6338, 6340
MIM145260	PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A	65125, 65266
MIM103580	PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A	2778
MIM603233	PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B	149775, 2778, 8675
MIM612462	PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C	2778
MIM612463	PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP	2778
MIM264600	PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH	6716
MIM177820	PSEUDO-VON WILLEBRAND DISEASE; VWDP	2811
MIM177850	PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE	368
MIM264800	PSEUDOXANTHOMA ELASTICUM; PXE	368, 64131, 64132
MIM610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY	2677
MIM177900	PSORIASIS SUSCEPTIBILITY 1; PSORS1	3593, 3107, 10547, 503613, 5722, 63869, 63870, 359825, 7889, 65245, 149233
MIM612950	PSORIASIS SUSCEPTIBILITY 12; PSORS12	55905
MIM614070	PSORIASIS SUSCEPTIBILITY 13; PSORS13	10758
MIM605606	PSORIASIS SUSCEPTIBILITY 7; PSORS7	149233
MIM607507	PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO	64127, 4049
MIM265100	PULMONARY ALVEOLAR MICROLITHIASIS	10568
MIM606963	PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD	3162, 5265, 4312
MIM178500	PULMONARY FIBROSIS, IDIOPATHIC; IPF	255520, 6440, 727897, 7012, 7015, 729238, 653509
MIM178600	PULMONARY HYPERTENSION, PRIMARY, 1; PPH1	659, 4093
MIM265450	PULMONARY VENOOCCLUSIVE DISEASE; PVOD	659
MIM613179	PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY	4860
MIM614204	PUSTULAR PSORIASIS, GENERALIZED; PSORP	26525
MIM265800	PYCNODYSOSTOSIS	1513
MIM179010	PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1; IHPS1	4842
MIM604416	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	9051
MIM610090	PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY	55163
MIM266140	PYROPOIKILOCYTOSIS, HEREDITARY; HPP	6708
MIM266150	PYRUVATE CARBOXYLASE DEFICIENCY	5091
MIM312170	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD	5160
MIM614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD	5162
MIM245348	PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD	1737
MIM245349	PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY; PDHXD	8050
MIM608782	PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD	54704
MIM266200	PYRUVATE KINASE DEFICIENCY OF RED CELLS	5313
MIM610141	QT INTERVAL, VARIATION IN	9722
MIM601709	QUEBEC PLATELET DISORDER; QPD	5328
MIM111620	RADIN BLOOD GROUP ANTIGEN; RD	114625
MIM605432	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA	3207
MIM259775	RAINE SYNDROME; RNS	56975
MIM266280	RAPADILINO SYNDROME	9401
MIM179620	RAPH BLOOD GROUP SYSTEM	977
MIM129400	RAPP-HODGKIN SYNDROME; RHS	8626
MIM612042	RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1; RRQTL1	285498
MIM266500	REFSUM DISEASE, ADULT	5191, 5264
MIM266510	REFSUM DISEASE, INFANTILE	5189, 55670, 5828
MIM191830	RENAL ADYSPLASIA	5979, 7380
MIM144700	RENAL CELL CARCINOMA, NONPAPILLARY; RCC	7428, 6927, 6928, 4968, 84925, 201163, 11236
MIM605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1	7030, 4233, 5546
MIM300854	RENAL CELL CARCINOMA, Xp11-ASSOCIATED; RCCX1	7030
MIM137920	RENAL CYSTS AND DIABETES SYNDROME	6928
MIM233100	RENAL GLUCOSURIA; GLYS1	6524
MIM179800	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT	6521
MIM602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR	6521, 50617
MIM611590	RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA	6521
MIM267300	RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS	525
MIM604278	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION	8671
MIM267430	RENAL TUBULAR DYSGENESIS; RTD	5972, 1636, 183, 185
MIM208540	RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD	27031
MIM309500	RENPENNING SYNDROME 1; RENS1	10084
MIM607276	RESTING HEART RATE, VARIATION IN	153
MIM611185	RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; RLS6	114781
MIM275210	RESTRICTIVE DERMOPATHY, LETHAL	10269, 4000
MIM267500	RETICULAR DYSGENESIS	204
MIM614224	RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS; RAMSVPS	3490
MIM610024	RETINAL CONE DYSTROPHY 3A; RCD3A	5149
MIM610356	RETINAL CONE DYSTROPHY 3B; RCD3B	169522
MIM610478	RETINAL CONE DYSTROPHY 4; RCD4	93589
MIM180100	RETINITIS PIGMENTOSA 1; RP1	6101
MIM180105	RETINITIS PIGMENTOSA 10; RP10	3614
MIM600138	RETINITIS PIGMENTOSA 11; RP11	26121
MIM600105	RETINITIS PIGMENTOSA 12; RP12	23418
MIM600059	RETINITIS PIGMENTOSA 13; RP13	10594
MIM600132	RETINITIS PIGMENTOSA 14; RP14	7287
MIM600852	RETINITIS PIGMENTOSA 17; RP17	762
MIM601414	RETINITIS PIGMENTOSA 18; RP18	9129
MIM601718	RETINITIS PIGMENTOSA 19; RP19	24
MIM312600	RETINITIS PIGMENTOSA 2; RP2	6102
MIM613794	RETINITIS PIGMENTOSA 20; RP20	6121
MIM602772	RETINITIS PIGMENTOSA 25; RP25	346007
MIM608380	RETINITIS PIGMENTOSA 26; RP26	375298
MIM613750	RETINITIS PIGMENTOSA 27; RP27	4901
MIM606068	RETINITIS PIGMENTOSA 28; RP28	84140
MIM300029	RETINITIS PIGMENTOSA 3; RP3	6103
MIM607921	RETINITIS PIGMENTOSA 30; RP30	25794
MIM609923	RETINITIS PIGMENTOSA 31; RP31	10210
MIM610359	RETINITIS PIGMENTOSA 33; RP33	23020
MIM610282	RETINITIS PIGMENTOSA 35; RP35	64218
MIM610599	RETINITIS PIGMENTOSA 36; RP36	768206
MIM611131	RETINITIS PIGMENTOSA 37; RP37	10002
MIM613862	RETINITIS PIGMENTOSA 38; RP38	10461
MIM613809	RETINITIS PIGMENTOSA 39; RP39	7399
MIM613731	RETINITIS PIGMENTOSA 4; RP4	6010
MIM613801	RETINITIS PIGMENTOSA 40; RP40	5158
MIM612095	RETINITIS PIGMENTOSA 41; RP41	8842
MIM612943	RETINITIS PIGMENTOSA 42; RP42	55975
MIM613810	RETINITIS PIGMENTOSA 43; RP43	5145
MIM613769	RETINITIS PIGMENTOSA 44; RP44	5995
MIM613767	RETINITIS PIGMENTOSA 45; RP45	1258
MIM613758	RETINITIS PIGMENTOSA 47; RP47	6295
MIM613827	RETINITIS PIGMENTOSA 48; RP48	2979
MIM613756	RETINITIS PIGMENTOSA 49; RP49	1259
MIM613194	RETINITIS PIGMENTOSA 50; RP50	7439
MIM613464	RETINITIS PIGMENTOSA 51; RP51	123016
MIM613428	RETINITIS PIGMENTOSA 54; RP54	388939
MIM613575	RETINITIS PIGMENTOSA 55; RP55	84100
MIM613581	RETINITIS PIGMENTOSA 56; RP56	50939
MIM613582	RETINITIS PIGMENTOSA 57; RP57	5148
MIM613617	RETINITIS PIGMENTOSA 58; RP58	130557
MIM613861	RETINITIS PIGMENTOSA 59; RP59	79947
MIM613983	RETINITIS PIGMENTOSA 60; RP60	24148
MIM614180	RETINITIS PIGMENTOSA 61; RP61	7401
MIM614181	RETINITIS PIGMENTOSA 62; RP62	4117
MIM608133	RETINITIS PIGMENTOSA 7; RP7	5961
MIM180104	RETINITIS PIGMENTOSA 9; RP9	6100
MIM300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS	6103
MIM268000	RETINITIS PIGMENTOSA; RP	55812, 388939, 1406, 6017, 10461, 7399, 1258
MIM180200	RETINOBLASTOMA; RB1	5925
MIM312700	RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1	6247
MIM613454	RETT SYNDROME, CONGENITAL VARIANT	2290
MIM312750	RETT SYNDROME; RTT	4204, 6792
MIM268130	REVESZ SYNDROME	26277
MIM613471	REYNOLDS SYNDROME	3930
MIM609322	RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1	6598
MIM613325	RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2	6597
MIM268210	RHABDOMYOSARCOMA 1; RMS1	5002
MIM268220	RHABDOMYOSARCOMA 2; RMS2	2308, 5077, 5081
MIM604302	RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE	4282, 3569
MIM180300	RHEUMATOID ARTHRITIS; RA	3586, 23569, 51744, 3123, 26191, 861, 6775, 4261, 6583, 4795
MIM215100	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1	5191
MIM222765	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2	8443
MIM600121	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3	8540
MIM268150	RH-NULL, REGULATOR TYPE; RHN	6005
MIM614014	RIBONUCLEASE A FAMILY, 9; RNASE9	1859
MIM608611	RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY	22934
MIM611943	RIDDLE SYNDROME	165918
MIM602771	RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1	57190
MIM180550	RING DERMOID OF CORNEA; RDC	5308
MIM606072	RIPPLING MUSCLE DISEASE; RMD	859, 6022
MIM268300	ROBERTS SYNDROME; RBS	157570
MIM180700	ROBINOW SYNDROME, AUTOSOMAL DOMINANT; DRS	7474
MIM268310	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS	4920
MIM300643	ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX	27286
MIM225000	ROSSELLI-GULIENETTI SYNDROME	5818
MIM268400	ROTHMUND-THOMSON SYNDROME; RTS	9401
MIM180800	ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA	5376, 4359
MIM180849	RUBINSTEIN-TAYBI SYNDROME 1; RSTS1	1387, 2033
MIM613684	RUBINSTEIN-TAYBI SYNDROME 2; RSTS2	2033
MIM268700	SACCHAROPINURIA	10157
MIM600145	SACRAL DEFECT WITH ANTERIOR MENINGOCELE	81839
MIM101400	SAETHRE-CHOTZEN SYNDROME; SCS	7291, 2263
MIM181030	SALIVARY GLAND ADENOMA, PLEOMORPHIC	5324
MIM268800	SANDHOFF DISEASE	3074
MIM609464	SARCOIDOSIS, EARLY-ONSET	64127
MIM181000	SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1	3123, 64127, 56244
MIM612387	SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2	56244
MIM268900	SARCOSINEMIA	1757
MIM269000	SC PHOCOMELIA SYNDROME	157570
MIM609579	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	2263
MIM181430	SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM	4625
MIM300695	SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM	2273
MIM181405	SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA	59341
MIM181400	SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK	1674
MIM607016	SCHEIE SYNDROME	3425
MIM609241	SCHINDLER DISEASE, TYPE I	4668
MIM269150	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME	26040
MIM269160	SCHIZENCEPHALY	6469, 6496, 2018
MIM181510	SCHIZOPHRENIA 1; SCZD1	9685
MIM613950	SCHIZOPHRENIA 15; SCZD15	85358
MIM613959	SCHIZOPHRENIA 16; SCZD16	7434
MIM600850	SCHIZOPHRENIA 4; SCZD4	5625
MIM603175	SCHIZOPHRENIA 5; SCZD5	319100
MIM603013	SCHIZOPHRENIA 6; SCZD6	3084
MIM604906	SCHIZOPHRENIA 9; SCZD9	27185, 5999
MIM181500	SCHIZOPHRENIA; SCZD	267012, 1814, 3356, 1312, 27184, 27185, 65078, 55366, 1610, 1116, 8542, 84062, 8806, 4524, 80832, 6854, 63944, 404686, 207, 8400, 8401, 6365, 619488, 23780, 6377, 6378
MIM269250	SCHNECKENBECKEN DYSPLASIA	23169
MIM224750	SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS	80326
MIM162091	SCHWANNOMATOSIS	4771
MIM255800	SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1	3339
MIM269500	SCLEROSTEOSIS 1; SOST1	50964
MIM614305	SCLEROSTEOSIS 2; SOST2	4038
MIM608765	SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3	55636
MIM262890	SCOTT SYNDROME; SCTS	196527
MIM269600	SEA-BLUE HISTIOCYTE DISEASE	348
MIM605249	SEBASTIAN SYNDROME; SBS	4627
MIM610227	SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS	79755
MIM210600	SECKEL SYNDROME 1; SCKL1	545
MIM613676	SECKEL SYNDROME 4; SCKL4	55835
MIM613823	SECKEL SYNDROME 5; SCKL5	22995
MIM605407	SEGAWA SYNDROME, AUTOSOMAL RECESSIVE	7054
MIM607745	SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3	6326
MIM121200	SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1	3785
MIM121201	SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2	3786
MIM612780	SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES	3766
MIM266900	SENIOR-LOKEN SYNDROME 1; SLSN1	4867
MIM606996	SENIOR-LOKEN SYNDROME 4; SLSN4	261734
MIM609254	SENIOR-LOKEN SYNDROME 5; SLSN5	9657
MIM610189	SENIOR-LOKEN SYNDROME 6; SLSN6	80184
MIM607459	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO	5428, 56652
MIM182230	SEPTOOPTIC DYSPLASIA	8820
MIM611291	SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION	79840
MIM602450	SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION	3981, 64421
MIM102700	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	100
MIM601457	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE	5896, 5897
MIM600802	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE	915, 3575
MIM608971	SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE	915, 916, 5788, 3575
MIM300400	SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1	3561
MIM608579	SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO	3105, 3106
MIM609620	SHORT QT SYNDROME 1; SQT1	3757
MIM609621	SHORT QT SYNDROME 2; SQT2	3784
MIM609622	SHORT QT SYNDROME 3; SQT3	3759
MIM263520	SHORT RIB-POLYDACTYLY SYNDROME, TYPE II	79659, 4750
MIM263510	SHORT RIB-POLYDACTYLY SYNDROME, TYPE III	79659
MIM614091	SHORT RIB-POLYDACTYLY SYNDROME, TYPE V; SRPS5	57539
MIM612975	SHORT SLEEPER	79365
MIM604271	SHORT STATURE, IDIOPATHIC, AUTOSOMAL	6473, 2688, 2690, 2693
MIM300582	SHORT STATURE, IDIOPATHIC, X-LINKED; ISS	6473
MIM182212	SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS	2200
MIM260400	SHWACHMAN-DIAMOND SYNDROME; SDS	51119
MIM269921	SIALURIA	10020
MIM604369	SIALURIA, FINNISH TYPE	26503
MIM608567	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1	6331
MIM163800	SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT; SSS2	10021
MIM614090	SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3	4624
MIM603903	SICKLE CELL ANEMIA	3043
MIM300263	SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD	23133
MIM180860	SILVER-RUSSELL SYNDROME; SRS	283120
MIM312870	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1	2719
MIM300209	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2	8481
MIM210250	SITOSTEROLEMIA	64240, 64241
MIM270200	SJOGREN-LARSSON SYNDROME; SLS	224
MIM612447	SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION	7704
MIM607655	SKIN FRAGILITY-WOOLLY HAIR SYNDROME; SFWHS	1832
MIM227220	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1	4948, 8924
MIM612267	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10	219931
MIM266300	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2	4157
MIM601800	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3	7299
MIM113750	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4	283652
MIM227240	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5	51151
MIM210750	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6	123041
MIM611664	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7	4254
MIM611742	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9	434
MIM608236	SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT	9639
MIM182280	SMALL CELL CANCER OF THE LUNG	5925
MIM147891	SMALL PATELLA SYNDROME; SPS	9496
MIM270400	SMITH-LEMLI-OPITZ SYNDROME; SLOS	1717
MIM182290	SMITH-MAGENIS SYNDROME; SMS	10743
MIM607326	SMITH-MCCORT DYSPLASIA; SMC	54808
MIM612052	SMOKING AS A QUANTITATIVE TRAIT LOCUS 3; SQTL3	1136, 1138
MIM613508	SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1; SSQTL1	59341
MIM147250	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI	6469
MIM117550	SOTOS SYNDROME 1; SOTOS1	64324
MIM613672	SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4	55149
MIM270550	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS	26278
MIM607225	SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP	57679
MIM604187	SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10	3798
MIM604360	SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11	80208
MIM605280	SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13	3329
MIM270700	SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15	23503
MIM270685	SPASTIC PARAPLEGIA 17; SPG17	26580
MIM312920	SPASTIC PARAPLEGIA 2, X-LINKED; SPG2	5354
MIM275900	SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20	23111
MIM182600	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A	51062
MIM610357	SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30	547
MIM610250	SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31	65055
MIM610244	SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33	118813
MIM612319	SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35	79152
MIM612020	SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39	10908
MIM182601	SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4	6683
MIM612539	SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42	9197
MIM613206	SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44	57165
MIM614066	SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47	10717
MIM613647	SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48	9907
MIM612936	SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50	9179
MIM613744	SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51	23431
MIM614067	SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52	11154
MIM270800	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A	9420
MIM600363	SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6	123606
MIM607259	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7	6687
MIM603563	SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8	9897
MIM245480	SPECIFIC GRANULE DEFICIENCY; SGD	1053
MIM602081	SPEECH-LANGUAGE DISORDER 1; SPCH1	93986
MIM270960	SPERMATOGENIC FAILURE 4; SPGF4	50511
MIM243060	SPERMATOGENIC FAILURE 5; SPGF5	6795
MIM102530	SPERMATOGENIC FAILURE 6; SPGF6	83893
MIM612997	SPERMATOGENIC FAILURE 7; SPGF7	117144
MIM613957	SPERMATOGENIC FAILURE 8; SPGF8	2516
MIM613958	SPERMATOGENIC FAILURE 9; SPGF9	283417
MIM305700	SPERMATOGENIC FAILURE, X-LINKED, 1; SPGFX1	83844
MIM415000	SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2	5940, 8287
MIM182900	SPHEROCYTOSIS, TYPE 1; SPH1	286
MIM270970	SPHEROCYTOSIS, TYPE 3; SPH3	6708
MIM612653	SPHEROCYTOSIS, TYPE 4; SPH4	6521
MIM612690	SPHEROCYTOSIS, TYPE 5; SPH5	2038
MIM313200	SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1	367
MIM604320	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1	3508
MIM611067	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4	57449
MIM600175	SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE	59341
MIM300489	SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3	538
MIM182980	SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT	9217
MIM253300	SPINAL MUSCULAR ATROPHY, TYPE I; SMA1	6606
MIM253550	SPINAL MUSCULAR ATROPHY, TYPE II; SMA2	6606
MIM253400	SPINAL MUSCULAR ATROPHY, TYPE III; SMA3	6606, 6607
MIM271150	SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4	6606
MIM301830	SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2	7317
MIM164400	SPINOCEREBELLAR ATAXIA 1; SCA1	6310
MIM603516	SPINOCEREBELLAR ATAXIA 10; SCA10	25814
MIM604432	SPINOCEREBELLAR ATAXIA 11; SCA11	146057
MIM604326	SPINOCEREBELLAR ATAXIA 12; SCA12	5521
MIM605259	SPINOCEREBELLAR ATAXIA 13; SCA13	3748
MIM605361	SPINOCEREBELLAR ATAXIA 14; SCA14	5582
MIM606658	SPINOCEREBELLAR ATAXIA 15; SCA15	3708
MIM607136	SPINOCEREBELLAR ATAXIA 17; SCA17	6908
MIM183090	SPINOCEREBELLAR ATAXIA 2; SCA2	6311
MIM610245	SPINOCEREBELLAR ATAXIA 23; SCA23	5173
MIM609307	SPINOCEREBELLAR ATAXIA 27; SCA27	2259
MIM610246	SPINOCEREBELLAR ATAXIA 28; SCA28	10939
MIM117210	SPINOCEREBELLAR ATAXIA 31; SCA31	25894, 146227
MIM613908	SPINOCEREBELLAR ATAXIA 35; SCA35	343641
MIM614153	SPINOCEREBELLAR ATAXIA 36; SCA36	10528
MIM600223	SPINOCEREBELLAR ATAXIA 4; SCA4	25894
MIM600224	SPINOCEREBELLAR ATAXIA 5; SCA5	6712
MIM183086	SPINOCEREBELLAR ATAXIA 6; SCA6	773
MIM164500	SPINOCEREBELLAR ATAXIA 7; SCA7	6314
MIM608768	SPINOCEREBELLAR ATAXIA 8; SCA8	724066, 6315
MIM606002	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1	23064
MIM613728	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10	55129
MIM614229	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11; SCAR11	255928
MIM606937	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5; SCAR5	9640
MIM610743	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8	23345
MIM607250	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; SCAN1	55775
MIM183600	SPLIT-HAND/FOOT MALFORMATION 1; SHFM1	171157
MIM605289	SPLIT-HAND/FOOT MALFORMATION 4; SHFM4	8626
MIM225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6	7480
MIM106300	SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1	3105, 3106
MIM272460	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT	2317
MIM612350	SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE	91252
MIM277300	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1	10683
MIM608681	SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2	145873
MIM609813	SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3	3955
MIM613686	SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4	84667
MIM122600	SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT; SCDO5	392255
MIM607944	SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI	54
MIM612813	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE	176
MIM608728	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED	4148
MIM602111	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE	4322
MIM612847	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE	9060
MIM184250	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK	1280
MIM183900	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC	1280
MIM313400	SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT	6399
MIM143095	SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS	9469
MIM608361	SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE	176
MIM184095	SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE	59341
MIM613330	SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD	579
MIM271665	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	4921
MIM184252	SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK	1280, 59341
MIM271700	SPONDYLOPERIPHERAL DYSPLASIA	1280
MIM606688	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	5621
MIM275355	SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC	3621, 8795, 5728
MIM184460	STAPES ANKYLOSIS WITH BROAD THUMB AND TOES	9241
MIM248200	STARGARDT DISEASE 1; STGD1	24, 54714
MIM600110	STARGARDT DISEASE 3; STGD3	6785
MIM603786	STARGARDT DISEASE 4; STGD4	8842
MIM606255	STATURE AS A QUANTITATIVE TRAIT	4175
MIM612221	STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10	253461
MIM612223	STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11	1021
MIM612226	STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13	254251
MIM612228	STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14	55245
MIM611547	STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9	8091
MIM184500	STEATOCYSTOMA MULTIPLEX	3872
MIM609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR	1280
MIM108300	STICKLER SYNDROME, TYPE I; STL1	1280
MIM604841	STICKLER SYNDROME, TYPE II; STL2	1301
MIM184840	STICKLER SYNDROME, TYPE III; STL3	1302
MIM614134	STICKLER SYNDROME, TYPE IV; STL4	1297
MIM614284	STICKLER SYNDROME, TYPE V; STL5	1298
MIM184900	STIFF SKIN SYNDROME; SSKS	2200
MIM300434	STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME	57477
MIM609161	STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD	8622
MIM271930	STRIATONIGRAL DEGENERATION, INFANTILE; SNDI	23636
MIM601367	STROKE, ISCHEMIC	2147, 2153, 5583, 4846, 241
MIM606799	STROKE, SUSCEPTIBILITY TO, 1	5144
MIM601559	STUVE-WIEDEMANN SYNDROME	3977
MIM271980	SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY	7915
MIM245050	SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY	5019
MIM222900	SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID	6476
MIM272120	SUDDEN INFANT DEATH SYNDROME	6331
MIM608800	SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT	7259
MIM272300	SULFOCYSTEINURIA	6821
MIM601104	SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1	4137
MIM185500	SUPRAVALVULAR AORTIC STENOSIS; SVAS	2006
MIM265120	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1	6439, 6440, 1439
MIM610913	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2	6440
MIM610921	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3	21
MIM300770	SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4	1438
MIM108985	SVEINSSON CHORIORETINAL ATROPHY; SCRA	7003
MIM185800	SYMPHALANGISM, PROXIMAL; SYM1	8200, 9241
MIM186100	SYNDACTYLY, TYPE III	2697
MIM186200	SYNDACTYLY, TYPE IV	64327
MIM186300	SYNDACTYLY, TYPE V	3239
MIM186000	SYNPOLYDACTYLY 1; SPD1	3239
MIM608180	SYNPOLYDACTYLY 2; SPD2	2192
MIM601744	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1	7100
MIM612251	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10	3663
MIM612253	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11; SLEB11	6775
MIM605218	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2	5133
MIM609939	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6	3684
MIM610927	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9; SLEB9	1380
MIM152700	SYSTEMIC LUPUS ERYTHEMATOSUS; SLE	5133, 11277, 26191, 356, 3687, 6775, 100188798, 7833, 2213, 2214, 64695, 170682, 720, 404714, 1773, 55024
MIM205400	TANGIER DISEASE; TGD	19
MIM311900	TARP SYNDROME; TARPS	8241
MIM186570	TARSAL-CARPAL COALITION SYNDROME; TCC	9241
MIM272800	TAY-SACHS DISEASE; TSD	3073
MIM601705	T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY	8456
MIM187300	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT	2022
MIM600376	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2	94
MIM605282	TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS	22856
MIM300244	TERMINAL OSSEOUS DYSPLASIA; TOD	2316
MIM273300	TESTICULAR GERM CELL TUMOR; TGCT	6794, 2261, 3815
MIM610441	TESTICULAR MICROLITHIASIS	10568
MIM273395	TETRAAMELIA, AUTOSOMAL RECESSIVE	7473
MIM187500	TETRALOGY OF FALLOT; TOF	2657, 23414, 182, 1482
MIM187600	THANATOPHORIC DYSPLASIA, TYPE I; TD1	2261
MIM187601	THANATOPHORIC DYSPLASIA, TYPE II; TD2	2261
MIM607483	THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2	80704
MIM613710	THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE); THMD4	60386
MIM249270	THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA	10560
MIM610460	THIOPURINE S-METHYLTRANSFERASE DEFICIENCY	7172
MIM171200	THIOUREA TASTING	5726
MIM273750	THREE M SYNDROME 1; 3M1	9820
MIM612921	THREE M SYNDROME 2; 3M2	23363
MIM614205	THREE M SYNDROME 3; 3M3	83987
MIM187950	THROMBOCYTHEMIA 1; THCYT1	4352, 10019, 3717, 7066
MIM313900	THROMBOCYTOPENIA 1; THC1	7454
MIM188000	THROMBOCYTOPENIA 2; THC2	22852, 84930
MIM612004	THROMBOCYTOPENIA 4; THC4	54205
MIM314050	THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT	2623
MIM300367	THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA	2623
MIM188030	THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP	9103
MIM188055	THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2	2153
MIM613116	THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; THPH11	3273
MIM176860	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3	5624
MIM612304	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4	5624
MIM612336	THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT; THPH5	5627
MIM188050	THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1	2147, 4524, 3026
MIM612348	THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR; THPH9	5327
MIM300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8	2158
MIM274150	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP	11093
MIM155240	THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC	4914, 5979
MIM188470	THYROID CARCINOMA, FOLLICULAR; FTC	4893, 9562, 5728, 3265
MIM607464	THYROID CARCINOMA, HURTHLE CELL	51079
MIM188550	THYROID CARCINOMA, PAPILLARY	8030, 8031, 8805, 51592, 5573, 9950, 5108
MIM274400	THYROID DYSHORMONOGENESIS 1; TDH1	6528
MIM274500	THYROID DYSHORMONOGENESIS 2A; TDH2A	7173
MIM274700	THYROID DYSHORMONOGENESIS 3; TDH3	7038
MIM274800	THYROID DYSHORMONOGENESIS 4; TDH4	389434
MIM274900	THYROID DYSHORMONOGENESIS 5; TDH5	405753
MIM607200	THYROID DYSHORMONOGENESIS 6; TDH6	50506
MIM609698	THYROID HORMONE METABOLISM, ABNORMAL	79048
MIM188570	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH	7068
MIM274300	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH	7068
MIM145650	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH	7068
MIM188580	THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1	779
MIM613239	THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2; TTPP2	100134444
MIM275120	THYROTROPIN-RELEASING HORMONE DEFICIENCY	7200
MIM600334	TIBIAL MUSCULAR DYSTROPHY, TARDIVE	7273
MIM103500	TIETZ SYNDROME	4286
MIM601005	TIMOTHY SYNDROME; TS	775
MIM300622	TN SYNDROME	29071
MIM188890	TOBACCO ADDICTION, SUSCEPTIBILITY TO	1548, 9568, 1137, 6531
MIM300707	TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; STAR	92002
MIM106600	TOOTH AGENESIS, SELECTIVE, 1; STHAG1	4487, 5083
MIM604625	TOOTH AGENESIS, SELECTIVE, 3; STHAG3	5083
MIM150400	TOOTH AGENESIS, SELECTIVE, 4; STHAG4	80326
MIM613097	TOOTH AGENESIS, SELECTIVE, 6; STHAG6	4054
MIM313500	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1	1896
MIM259600	TORG-WINCHESTER SYNDROME	4313
MIM107480	TOWNES-BROCKS SYNDROME; TBS	6299
MIM606003	TRANSALDOLASE DEFICIENCY	6888
MIM275350	TRANSCOBALAMIN II DEFICIENCY	6948
MIM614193	TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; TFQTL2	3077
MIM190000	TRANSFERRIN; TF	3077
MIM131705	TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN	1294
MIM608808	TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1	23389
MIM613853	TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2; DTGA2	55997
MIM613854	TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3; DTGA3	2657
MIM154500	TREACHER COLLINS SYNDROME 1; TCS1	6949
MIM613717	TREACHER COLLINS SYNDROME 2; TCS2	51082
MIM248390	TREACHER COLLINS SYNDROME 3; TCS3	9533
MIM612119	TREHALASE DEFICIENCY	11181
MIM190300	TREMOR, HEREDITARY ESSENTIAL, 1; ETM1	1814
MIM190320	TRICHODENTOOSSEOUS SYNDROME	1747
MIM601606	TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1	1540
MIM190350	TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1	7227
MIM150230	TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2	7227
MIM190351	TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3	7227
MIM234050	TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1	136647
MIM601675	TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP	2068, 2071, 404672
MIM613229	TRICHOTILLOMANIA; TTM	114798
MIM609015	TRIFUNCTIONAL PROTEIN DEFICIENCY	3030, 3032
MIM190440	TRIGONOCEPHALY 1; TRIGNO1	2260
MIM602079	TRIMETHYLAMINURIA; TMAU	2328
MIM190900	TRITANOPIA	611
MIM608189	TROPICAL CALCIFIC PANCREATITIS	6690
MIM614044	TRYPSINOGEN DEFICIENCY	5644
MIM191100	TUBEROUS SCLEROSIS 1; TSC1	7248, 7249, 3458
MIM613254	TUBEROUS SCLEROSIS 2; TSC2	3458
MIM211900	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC	2591, 8074, 9365
MIM610455	TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC	54809
MIM276400	TWINNING, DIZYGOTIC	2492
MIM611521	TYROSINE KINASE 2 DEFICIENCY	7297
MIM276700	TYROSINEMIA, TYPE I	2184
MIM276600	TYROSINEMIA, TYPE II	6898
MIM276710	TYROSINEMIA, TYPE III	3242
MIM254090	ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD	1291, 1292, 1293
MIM276820	ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY	7476
MIM181450	ULNAR-MAMMARY SYNDROME; UMS	6926
MIM266120	URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	51251
MIM276880	UROCANASE DEFICIENCY	131669
MIM236730	UROFACIAL SYNDROME; UFS	60495
MIM276900	USHER SYNDROME, TYPE I; USH1	4647
MIM276904	USHER SYNDROME, TYPE IC; USH1C	10083
MIM601067	USHER SYNDROME, TYPE ID; USH1D	64072, 65217
MIM602083	USHER SYNDROME, TYPE IF; USH1F	65217
MIM606943	USHER SYNDROME, TYPE IG; USH1G	124590
MIM276901	USHER SYNDROME, TYPE IIA; USH2A	79955, 7399
MIM605472	USHER SYNDROME, TYPE IIC; USH2C	79955, 84059
MIM611383	USHER SYNDROME, TYPE IID; USH2D	25861
MIM276902	USHER SYNDROME, TYPE IIIA; USH3A	7401
MIM600630	UV-SENSITIVE SYNDROME 1; UVSS1	2074
MIM276950	VACTERL ASSOCIATION WITH HYDROCEPHALUS	5728
MIM314390	VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX	2187
MIM607636	VAN BUCHEM DISEASE, TYPE 2	4041
MIM600920	VAN DEN ENDE-GUPTA SYNDROME; VDEGS	91179
MIM119300	VAN DER WOUDE SYNDROME 1; VWS1	3664
MIM606713	VAN DER WOUDE SYNDROME 2; VWS2	149465
MIM277180	VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD	1080
MIM192315	VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL	11277
MIM192350	VATER ASSOCIATION	3239
MIM192430	VELOCARDIOFACIAL SYNDROME	6899
MIM600195	VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM	7010
MIM603829	VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	6331
MIM612956	VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2	1804
MIM604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1	845, 6262
MIM611938	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2	845
MIM192605	VENTRICULAR TACHYCARDIA, FAMILIAL	2771
MIM192950	VERTICAL TALUS, CONGENITAL; CVT	3236
MIM610878	VESICOURETERAL REFLUX 2; VUR2	6092
MIM613674	VESICOURETERAL REFLUX 3; VUR3	64321
MIM612542	VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1	2524
MIM264700	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A	1594
MIM600081	VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B	120227
MIM277440	VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A	7421
MIM277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED	7274
MIM277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1; VKCFD1	2677
MIM607473	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2	79001
MIM606579	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1	22861
MIM193230	VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD	3769
MIM193220	VITREORETINOCHOROIDOPATHY; VRCP	7439
MIM604117	VOHWINKEL SYNDROME, VARIANT FORM	4014
MIM193300	VON HIPPEL-LINDAU SYNDROME; VHL	7428, 595
MIM193400	VON WILLEBRAND DISEASE, TYPE 1; VWD1	7450
MIM613554	VON WILLEBRAND DISEASE, TYPE 2; VWD2	7450
MIM277480	VON WILLEBRAND DISEASE, TYPE 3; VWD3	7450
MIM193500	WAARDENBURG SYNDROME, TYPE 1; WS1	5077
MIM193510	WAARDENBURG SYNDROME, TYPE 2A; WS2A	4286
MIM608890	WAARDENBURG SYNDROME, TYPE 2D; WS2D	6591
MIM611584	WAARDENBURG SYNDROME, TYPE 2E; WS2E	6663
MIM148820	WAARDENBURG SYNDROME, TYPE 3; WS3	5077
MIM277580	WAARDENBURG SYNDROME, TYPE 4A; WS4A	6663, 1908, 1910
MIM613265	WAARDENBURG SYNDROME, TYPE 4B; WS4B	1908
MIM613266	WAARDENBURG SYNDROME, TYPE 4C; WS4C	6663
MIM143200	WAGNER SYNDROME 1; WGN1	1462
MIM600118	WARBURG MICRO SYNDROME 1; WARBM1	22930
MIM614225	WARBURG MICRO SYNDROME 2; WARBM2	25782
MIM614222	WARBURG MICRO SYNDROME 3; WARBM3	22931
MIM613398	WARSAW BREAKAGE SYNDROME	1663
MIM193520	WATSON SYNDROME	4763
MIM277590	WEAVER SYNDROME 1; WVS1	64324
MIM277600	WEILL-MARCHESANI SYNDROME 1; WMS1	81794
MIM608328	WEILL-MARCHESANI SYNDROME 2; WMS2	2200
MIM613195	WEILL-MARCHESANI-LIKE SYNDROME	170691
MIM277610	WEISSENBACHER-ZWEYMULLER SYNDROME; WZS	1302
MIM277700	WERNER SYNDROME; WRN	7486, 4000
MIM277730	WERNICKE-KORSAKOFF SYNDROME	7086
MIM610379	WEST NILE VIRUS, SUSCEPTIBILITY TO	1234
MIM193530	WEYERS ACROFACIAL DYSOSTOSIS	2121
MIM193670	WHIM SYNDROME	7852
MIM611862	WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1	2532
MIM193900	WHITE SPONGE NEVUS; WSN	3851, 3860
MIM194050	WILLIAMS-BEUREN SYNDROME; WBS	9569, 2969, 2006
MIM194070	WILMS TUMOR 1; WT1	7490, 2719, 675
MIM194071	WILMS TUMOR 2; WT2	283120
MIM601583	WILMS TUMOR 5; WT5	11281
MIM194072	WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME; WAGR	7490
MIM612469	WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, MENTAL RETARDATION, AND OBESITY SYNDROME; WAGRO	627
MIM277900	WILSON DISEASE	540
MIM301000	WISKOTT-ALDRICH SYNDROME; WAS	7454
MIM189500	WITKOP SYNDROME	4487
MIM194200	WOLFF-PARKINSON-WHITE SYNDROME	51422
MIM194190	WOLF-HIRSCHHORN SYNDROME; WHS	7468
MIM222300	WOLFRAM SYNDROME 1; WFS1	7466
MIM604928	WOLFRAM SYNDROME 2; WFS2	493856
MIM614296	WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL	54790, 7466
MIM241080	WOODHOUSE-SAKATI SYNDROME	80067
MIM194300	WOOLLY HAIR, AUTOSOMAL DOMINANT; ADWH	121391
MIM278250	WRINKLY SKIN SYNDROME; WSS	23545
MIM300087	X INACTIVATION, FAMILIAL SKEWED, 1; SXI1	7503
MIM278300	XANTHINURIA, TYPE I	7498
MIM278700	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA	7507
MIM610651	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB	2071
MIM278720	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC	7508
MIM278730	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD	2068
MIM278740	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	1643
MIM278760	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF	2072
MIM278780	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG	2073
MIM278750	XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV	5429
MIM610965	XFE PROGEROID SYNDROME	2072
MIM153300	YELLOW NAIL SYNDROME	2303
MIM601706	YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME	6663
MIM112100	YT BLOOD GROUP ANTIGEN	43
MIM214100	ZELLWEGER SYNDROME; ZS	8504, 5189, 5190, 5192, 5193, 5194, 5195, 55670, 5824, 5828, 5830
MIM194470	ZINC, ELEVATED PLASMA	213
