Disease Name Symbol Acronym
D-2-Hydroxyglutaric Aciduria D2H001 D2HGA1
D-2-Hydroxyglutaric Aciduria 2 D2H003 D2HGA2
D-Bifunctional Protein Deficiency DBF001 DBPD
D-Glyceric Aciduria DGL002 D-GA
D-Glycericacidemia DGL001
Dacryoadenitis DCR003
Dacryocystitis DCR004
Dacryocystocele DCR002
Dandy-Walker Complex DND005
Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures DND017 PGS
Dandy-Walker Syndrome DND001 DWM
Danon Disease DNN001 DAND
Darier Disease DRR010 DD
Dartoic Leiomyoma DRT001
Dcx-Related Disorders DCX001
Ddb2-Related Xeroderma Pigmentosum DDB001
Ddx41-Related Susceptibility to Familial Myeloproliferative/lymphoproliferative Neoplasms DDX002 MPLPF
De Barsy Syndrome DBR002
De Novo Thrombotic Microangiopathy After Kidney Transplantation DNV002
De Quervain Disease DQR001
De Sanctis-Cacchione Syndrome DSN001 DSC
Deafness , Autosomal Recessive 86 DFN275 DFNB86
Deafness and Hereditary Hearing Loss DFN003
Deafness and Myopia DFN256 DFNMYP
Deafness Enamel Hypoplasia Nail Defects DFN007
Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome DFN017
Deafness with Labyrinthine Aplasia Microtia and Microdontia DFN021
Deafness-Infertility Syndrome DFN039 DIS
Deafness-Lymphedema-Leukemia Syndrome DFN299
Deafness, Autosomal Dominant 1 DFN131 DFNA1
Deafness, Autosomal Dominant 10 DFN107 DFNA10
Deafness, Autosomal Dominant 11 DFN251 DFNA11
Deafness, Autosomal Dominant 13 DFN137 DFNA13
Deafness, Autosomal Dominant 15 DFN117 DFNA15
Deafness, Autosomal Dominant 16 DFN148
Deafness, Autosomal Dominant 17 DFN200 DFNA17
Deafness, Autosomal Dominant 18 DFN149
Deafness, Autosomal Dominant 20/26 DFN113 DFNA20
Deafness, Autosomal Dominant 21 DFN150
Deafness, Autosomal Dominant 22 DFN196 DFNA22
Deafness, Autosomal Dominant 23 DFN192 DFNA23
Deafness, Autosomal Dominant 24 DFN151
Deafness, Autosomal Dominant 25 DFN189 DFNA25
Deafness, Autosomal Dominant 27 DFN152
Deafness, Autosomal Dominant 28 DFN094 DFNA28
Deafness, Autosomal Dominant 2a DFN190 DFNA2A
Deafness, Autosomal Dominant 2b DFN099 DFNA2B
Deafness, Autosomal Dominant 30 DFN153
Deafness, Autosomal Dominant 31 DFN154
Deafness, Autosomal Dominant 33 DFN257
Deafness, Autosomal Dominant 36 DFN128 DFNA36
Deafness, Autosomal Dominant 39, with Dentinogenesis DFN282 DFNA39/DGI1
Deafness, Autosomal Dominant 3a DFN098 DFNA3A
Deafness, Autosomal Dominant 3b DFN102 DFNA3B
Deafness, Autosomal Dominant 40 DFN134 DFNA40
Deafness, Autosomal Dominant 41 DFN155 DFNA41
Deafness, Autosomal Dominant 43 DFN156
Deafness, Autosomal Dominant 44 DFN118 DFNA44
Deafness, Autosomal Dominant 47 DFN157
Deafness, Autosomal Dominant 48 DFN202 DFNA48
Deafness, Autosomal Dominant 49 DFN158
Deafness, Autosomal Dominant 4a DFN267 DFNA4A
Deafness, Autosomal Dominant 4b DFN266 DFNA4B
Deafness, Autosomal Dominant 5 DFN159 DFNA5
Deafness, Autosomal Dominant 50 DFN119
Deafness, Autosomal Dominant 51 DFN246
Deafness, Autosomal Dominant 52 DFN160
Deafness, Autosomal Dominant 53 DFN161
Deafness, Autosomal Dominant 54 DFN272
Deafness, Autosomal Dominant 56 DFN274 DFNA56
Deafness, Autosomal Dominant 58 DFN271
Deafness, Autosomal Dominant 59 DFN162
Deafness, Autosomal Dominant 6/14/38 DFN193 DFNA6
Deafness, Autosomal Dominant 64 DFN255 DFNA64
Deafness, Autosomal Dominant 65 DFN278 DFNA65
Deafness, Autosomal Dominant 67 DFN284 DFNA67
Deafness, Autosomal Dominant 7 DFN163 DFNA7
Deafness, Autosomal Dominant 8/12 DFN129 DFNA12
Deafness, Autosomal Dominant 9 DFN136 DFNA9
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 DFN023
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 DFN027 DFNA3
Deafness, Autosomal Recessive DFN280
Deafness, Autosomal Recessive 101 DFN273 DFNB101
Deafness, Autosomal Recessive 102 DFN277 DFNB102
Deafness, Autosomal Recessive 103 DFN281 DFNB103
Deafness, Autosomal Recessive 104 DFN283 DFNB104
Deafness, Autosomal Recessive 12 DFN141 DFNB12
Deafness, Autosomal Recessive 13 DFN164
Deafness, Autosomal Recessive 14 DFN165
Deafness, Autosomal Recessive 15 DFN262 DFNB15
Deafness, Autosomal Recessive 16 DFN143 DFNB16
Deafness, Autosomal Recessive 17 DFN166
Deafness, Autosomal Recessive 18a DFN247 DFNB18A
Deafness, Autosomal Recessive 18b DFN248 DFNB18B
Deafness, Autosomal Recessive 1a DFN097 DFNB1A
Deafness, Autosomal Recessive 1b DFN103 DFNB1B
Deafness, Autosomal Recessive 2 DFN250 DFNB2
Deafness, Autosomal Recessive 20 DFN167
Deafness, Autosomal Recessive 21 DFN130 DFNB21
Deafness, Autosomal Recessive 22 DFN132 DFNB22
Deafness, Autosomal Recessive 23 DFN093 DFNB23
Deafness, Autosomal Recessive 24 DFN252 DFNB24
Deafness, Autosomal Recessive 25 DFN095 DFNB25
Deafness, Autosomal Recessive 26 DFN168
Deafness, Autosomal Recessive 27 DFN169
Deafness, Autosomal Recessive 28 DFN121 DFNB28
Deafness, Autosomal Recessive 29 DFN139 DFNB29
Deafness, Autosomal Recessive 3 DFN201 DFNB3
Deafness, Autosomal Recessive 30 DFN203 DFNB30
Deafness, Autosomal Recessive 31 DFN170 DFNB31
Deafness, Autosomal Recessive 32 DFN241
Deafness, Autosomal Recessive 33 DFN171
Deafness, Autosomal Recessive 35 DFN111 DFNB35
Deafness, Autosomal Recessive 36 DFN109 DFNAWVI
Deafness, Autosomal Recessive 37 DFN197 DFNB37
Deafness, Autosomal Recessive 38 DFN172
Deafness, Autosomal Recessive 39 DFN120 DFNB39
Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct DFN245 DFNB4
Deafness, Autosomal Recessive 40 DFN173
Deafness, Autosomal Recessive 42 DFN244 DFNB42
Deafness, Autosomal Recessive 44 DFN174 DFNB44
Deafness, Autosomal Recessive 45 DFN175
Deafness, Autosomal Recessive 46 DFN261
Deafness, Autosomal Recessive 48 DFN258 DFNB48
Deafness, Autosomal Recessive 49 DFN092 DFNB49
Deafness, Autosomal Recessive 5 DFN177 DFNB5
Deafness, Autosomal Recessive 51 DFN029
Deafness, Autosomal Recessive 53 DFN138 DFNB53
Deafness, Autosomal Recessive 55 DFN030
Deafness, Autosomal Recessive 59 DFN178 DFNB59
Deafness, Autosomal Recessive 6 DFN124 DFNB6
Deafness, Autosomal Recessive 61 DFN188 DFNB61
Deafness, Autosomal Recessive 62 DFN179
Deafness, Autosomal Recessive 63 DFN112 DFNB63
Deafness, Autosomal Recessive 65 DFN180
Deafness, Autosomal Recessive 66 DFN181 DFNB66
Deafness, Autosomal Recessive 67 DFN114 DFNB67
Deafness, Autosomal Recessive 68 DFN263 DFNB68
Deafness, Autosomal Recessive 7 DFN127 DFNB7
Deafness, Autosomal Recessive 70 DFN242 DFNB70
Deafness, Autosomal Recessive 71 DFN182
Deafness, Autosomal Recessive 74 DFN116 DFNB74
Deafness, Autosomal Recessive 76 DFN265 DFNB76
Deafness, Autosomal Recessive 77 DFN108 DFNB77
Deafness, Autosomal Recessive 79 DFN123 DFNB79
Deafness, Autosomal Recessive 8/10 DFN268 DFNB8
Deafness, Autosomal Recessive 83 DFN183
Deafness, Autosomal Recessive 84a DFN253 DFNB84A
Deafness, Autosomal Recessive 84b DFN254 DFNB84B
Deafness, Autosomal Recessive 85 DFN184
Deafness, Autosomal Recessive 88 DFN243 DFNB88
Deafness, Autosomal Recessive 89 DFN260 DFNB89
Deafness, Autosomal Recessive 9 DFN133 AUNB1
Deafness, Autosomal Recessive 91 DFN135 DFNB91
Deafness, Autosomal Recessive 93 DFN249 DFNB93
Deafness, Autosomal Recessive 96 DFN240
Deafness, Autosomal Recessive 98 DFN269 DFNB98
Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities DFN145
Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia DFN206 LAMM
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant DFN314 DDOD
Deafness, Dystonia, and Cerebral Hypomyelination DFN270 DDCH
Deafness, Mitochondrial, Modifier of DFN122
Deafness, Nonsyndromic, Modifier 1 DFN185
Deafness, Progressive, with Stapes Fixation DFN308
Deafness, X-Linked 1 DFN194 DFNX1
Deafness, X-Linked 2 DFN036 DFNX2
Deafness, X-Linked 3 DFN146
Deafness, X-Linked 4 DFN147 DFNX4
Deafness, X-Linked 5 DFN105 DFNX5
Deafness, X-Linked 6 DFN276 DFNX6
Deafness, Y-Linked 1 DFN186
Debrisoquine Sensitivity DBR001
Decubitus Ulcer DCB001
Dedifferentiated Liposarcoma DDF001 DDLS
Deep Angioma DPN002
Deep Dermatophytosis DPD001
Deep Keratitis DPK001
Deep Leiomyoma DPL001
Defective Apolipoprotein B-100 DFC001
Deficiency Anemia DFC004
Degeneration of Macula and Posterior Pole DGN003
Degenerative Disc Disease DGN001
Degenerative Myopia DGN002
Dehydrated Hereditary Stomatocytosis 2 DHY015 DHS2
Dehydrated Hereditary Stomatocytosis with or Without Pseudohyperkalemia and/or Perinatal Edema DHY014 DHS1
Dejerine-Sottas Disease DJR004 DSS
Delayed Sleep Phase Syndrome DLY005 DSPS
Deletion 5q35 DLT013
Delta-Thalassemia DLT012
Delusional Disorder DLS001
Dementia DMN002
Dementia, Familial British DMN032 CAA-ITM2B1
Dementia, Familial Danish DMN004 CAA-ITM2B2
Dementia, Familial, Nonspecific DMN016 FTD3
Dementia, Frontotemporal DMN033 FTD
Dementia, Lewy Body DMN031 DLB
Demyelinating Disease DMY004
Demyelinating Polyneuropathy DMY001
Dendritic Cell Thymoma DND003
Dendritic Cell Tumor DND018
Dengue Disease DNG003 DF
Dengue Fever, Protection Against DNG004 DF
Dengue Hemorrhagic Fever DNG002 DHF
Dengue Shock Syndrome DNG001 DSS
Dense Deposit Disease DNS007 DDD
Dense Deposit Disease/membranoproliferative Glomerulonephritis Type Ii DNS001
Dent Disease DNT015 NPHL2
Dent Disease 2 DNT021 DD2
Dental Abscess DNT046
Dental Anomalies and Short Stature DNT045 DASS
Dental Caries DNT012
Dental Fluorosis DNT001
Dental Pulp Calcification DNT003
Dental Pulp Disease DNT014
Dental Pulp Necrosis DNT006
Dentatorubro-Pallidoluysian Atrophy DNT016 DRPLA
Dentin Caries DNT010
Dentin Dysplasia DNT009 DD
Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth DNT041 DTDP1
Dentin Dysplasia, Type Ii DNT027 DTDP2
Dentin Sensitivity DNT007
Dentine Erosion DNT002
Dentinogenesis Imperfecta DNT011 DI
Dentinogenesis Imperfecta Type 2 DNT047 DI-2
Dentinogenesis Imperfecta Type 3 DNT048
Dentinogenesis Imperfecta, Shields Type Ii DNT033 DGI2
Dentinogenesis Imperfecta, Shields Type Iii DNT044 DGI3
Denture Stomatitis DNT008
Denys-Drash Syndrome DNY001 DDS
Deoxyguanosine Kinase Deficiency DXY001
Depdc5-Related Epilepsy DPD002
Dependent Personality Disorder DPN001
Depersonalization Disorder DPR002
Dermatitis DRM006
Dermatitis Herpetiformis DRM007 DH
Dermatitis, Atopic 2 DRM035 ATOD2
Dermato-Cardio-Skeletal Syndrome, Borrone Type DRM037
Dermatofibrosarcoma Protuberans DRM014 DFSP
Dermatographia DRM008
Dermatomycosis DRM009
Dermatomyositis DRM010 DM
Dermatopathia Pigmentosa Reticularis DRM021 DPR
Dermatophytosis DRM011 TINEA
Dermatosis Papulosa Nigra DRM003
Dermis Tumor DRM012
Dermoid Cyst DRM013
Dermoids of Cornea DRM015 CND
Des-Related Dilated Cardiomyopathy DSR003
Desbuquois Dysplasia DSB002 DBQD
Desbuquois Dysplasia 1 DSB006 DBQD1
Desbuquois Dysplasia 2 DSB005 DBQD2
Descending Colon Cancer DSC005
Desmoid Disease, Hereditary DSM003 HDD
Desmoid Tumor DSM004 FIF
Desmoplastic Infantile Astrocytoma DSM005 DIA
Desmoplastic Infantile Astrocytoma/ganglioglioma DSM014
Desmoplastic Infantile Ganglioglioma DSM006 DIG
Desmoplastic Small Round Cell Tumor DSM007 DSRCT
Desmosterolosis DSM002 DESMOS
Detrusor Sphincter Dyssynergia DTR001
Developmental and Speech Delay Due to Sox5 Deficiency DVL010
Developmental Coordination Disorder DVL001
Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair DVL018 DEDSSH
Developmental Delay-Deafness Syndrome, Hildebrand Type DVL015
Developmental Dysplasia of the Hip 1 DVL012
Developmental Dysplasia of the Hip 2 DVL011
Developmental Dyspraxia DVL005
Dextro-Looped Transposition of the Great Arteries DXT004 D-TGA
Dextrocardia DXT001
Dextrocardia with Situs Inversus DXT002
Dfna 1 Nonsyndromic Hearing Loss and Deafness DFN040
Dfna 2b Nonsyndromic Hearing Loss and Deafness DFN041
Dfna 3 Nonsyndromic Hearing Loss and Deafness DFN042
Dfna 4 Nonsyndromic Hearing Loss and Deafness DFN043
Dfna 4b Nonsyndromic Hearing Loss and Deafness DFN315
Dfna 5 Nonsyndromic Hearing Loss and Deafness DFN044
Dfna 6/14/38 Nonsyndromic Hearing Loss and Deafness DFN045 DFNA6
Dfna 8/12 Nonsyndromic Hearing Loss and Deafness DFN046 DFNA8
Dfna 9 Nonsyndromic Hearing Loss and Deafness DFN047 DFNA9
Dfna10 Nonsyndromic Hearing Loss and Deafness DFN048
Dfna11 Nonsyndromic Hearing Loss and Deafness DFN049
Dfna13 Nonsyndromic Hearing Loss and Deafness DFN050
Dfna15 Nonsyndromic Hearing Loss and Deafness DFN051
Dfna17 Nonsyndromic Hearing Loss and Deafness DFN052
Dfna2 Nonsyndromic Hearing Loss DFN001
Dfna20/26 Nonsyndromic Hearing Loss and Deafness DFN053
Dfna22 Nonsyndromic Hearing Loss and Deafness DFN054
Dfna23 Nonsyndromic Hearing Loss and Deafness DFN055
Dfna25 Nonsyndromic Hearing Loss and Deafness DFN056
Dfna28 Nonsyndromic Hearing Loss and Deafness DFN057
Dfna36 Nonsyndromic Hearing Loss and Deafness DFN058
Dfna40 Nonsyndromic Hearing Loss and Deafness DFN290
Dfna41 Nonsyndromic Hearing Loss and Deafness DFN291
Dfna44 Nonsyndromic Hearing Loss and Deafness DFN059
Dfna48 Nonsyndromic Hearing Loss and Deafness DFN060
Dfna50 Nonsyndromic Hearing Loss and Deafness DFN061
Dfna51 Nonsyndromic Hearing Loss and Deafness DFN316
Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss DFN062
Dfna64 Nonsyndromic Hearing Loss and Deafness DFN292
Dfna65 Nonsyndromic Hearing Loss and Deafness DFN317
Dfna69 Nonsyndromic Hearing Loss and Deafness DFN319 DCUA
Dfna76 Nonsyndromic Hearing Loss and Deafness DFN293
Dfna91 Nonsyndromic Hearing Loss and Deafness DFN294
Dfnb 1 Nonsyndromic Hearing Loss and Deafness DFN063
Dfnb 2 Nonsyndromic Hearing Loss and Deafness DFN064
Dfnb 3 Nonsyndromic Hearing Loss and Deafness DFN065
Dfnb 6 Nonsyndromic Hearing Loss and Deafness DFN066
Dfnb 7/11 Nonsyndromic Hearing Loss and Deafness DFN067
Dfnb 8/10 Nonsyndromic Hearing Loss and Deafness DFN068
Dfnb1 DFN038 DFNB1
Dfnb12 Nonsyndromic Hearing Loss and Deafness DFN069
Dfnb15 Nonsyndromic Hearing Loss and Deafness DFN285
Dfnb16 Nonsyndromic Hearing Loss and Deafness DFN070
Dfnb18 Nonsyndromic Hearing Loss and Deafness DFN071
Dfnb21 Nonsyndromic Hearing Loss and Deafness DFN072
Dfnb22 Nonsyndromic Hearing Loss and Deafness DFN073
Dfnb23 Nonsyndromic Hearing Loss and Deafness DFN074
Dfnb24 Nonsyndromic Hearing Loss and Deafness DFN075
Dfnb25 Nonsyndromic Hearing Loss and Deafness DFN286
Dfnb28 Nonsyndromic Hearing Loss and Deafness DFN076
Dfnb29 Nonsyndromic Hearing Loss and Deafness DFN077
Dfnb30 Nonsyndromic Hearing Loss and Deafness DFN078
Dfnb31 Nonsyndromic Hearing Loss and Deafness DFN079
Dfnb35 Nonsyndromic Hearing Loss and Deafness DFN080
Dfnb36 Nonsyndromic Hearing Loss and Deafness DFN081
Dfnb37 Nonsyndromic Hearing Loss and Deafness DFN082
Dfnb39 Nonsyndromic Hearing Loss and Deafness DFN083
Dfnb42 Nonsyndromic Hearing Loss and Deafness DFN287
Dfnb48 Nonsyndromic Hearing Loss and Deafness DFN320
Dfnb49 Nonsyndromic Hearing Loss and Deafness DFN084
Dfnb53 Nonsyndromic Hearing Loss and Deafness DFN321
Dfnb59 Nonsyndromic Hearing Loss and Deafness DFN085
Dfnb61 Nonsyndromic Hearing Loss and Deafness DFN086
Dfnb63 Nonsyndromic Hearing Loss and Deafness DFN087
Dfnb67 Nonsyndromic Hearing Loss and Deafness DFN088
Dfnb70 Nonsyndromic Hearing Loss and Deafness DFN322
Dfnb74 Nonsyndromic Hearing Loss and Deafness DFN288
Dfnb77 Nonsyndromic Hearing Loss and Deafness DFN089
Dfnb79 Nonsyndromic Hearing Loss and Deafness DFN219
Dfnb84 Nonsyndromic Hearing Loss and Deafness DFN289
Dfnb86 Nonsyndromic Hearing Loss and Deafness DFN318
Dfnb89 Nonsyndromic Hearing Loss and Deafness DFN323
Dfnb93 Nonsyndromic Hearing Loss and Deafness DFN324
Dfnx1 Nonsyndromic Hearing Loss and Deafness DFN002
Dfnx2 Nonsyndromic Hearing Loss and Deafness DFN091
Dfnx4 Nonsyndromic Hearing Loss and Deafness DFN220 DFN6
Dfnx6 Nonsyndromic Hearing Loss and Deafness DFN295 DFNX6
Dhdds-Related Retinitis Pigmentosa DHD001 RP59
Dhh-Related 46,xy Dsd and 46,xy Cgd DHH001
Diabetes and Deafness, Maternally Inherited DBT090 MIDD
Diabetes and Hearing Loss DBT019
Diabetes Insipidus DBT005
Diabetes Insipidus, Nephrogenic DBT088 ANDI
Diabetes Insipidus, Neurohypophyseal DBT087 NDI
Diabetes Mellitus, 6q24-Related Transient Neonatal DBT013 TNDM1
Diabetes Mellitus, Insulin-Dependent DBT085 IDDM
Diabetes Mellitus, Insulin-Dependent, 11 DBT048
Diabetes Mellitus, Insulin-Dependent, 12 DBT082 IDDM12
Diabetes Mellitus, Insulin-Dependent, 13 DBT049
Diabetes Mellitus, Insulin-Dependent, 15 DBT050
Diabetes Mellitus, Insulin-Dependent, 17 DBT051
Diabetes Mellitus, Insulin-Dependent, 18 DBT052
Diabetes Mellitus, Insulin-Dependent, 19 DBT077 IDDM19
Diabetes Mellitus, Insulin-Dependent, 2 DBT040 IDDM2
Diabetes Mellitus, Insulin-Dependent, 20 DBT034 IDDM20
Diabetes Mellitus, Insulin-Dependent, 21 DBT079
Diabetes Mellitus, Insulin-Dependent, 22 DBT032 IDDM22
Diabetes Mellitus, Insulin-Dependent, 23 DBT053
Diabetes Mellitus, Insulin-Dependent, 24 DBT054
Diabetes Mellitus, Insulin-Dependent, 3 DBT055 IDDM3
Diabetes Mellitus, Insulin-Dependent, 4 DBT056 IDDM4
Diabetes Mellitus, Insulin-Dependent, 5 DBT038 IDDM5
Diabetes Mellitus, Insulin-Dependent, 6 DBT057 IDDM6
Diabetes Mellitus, Insulin-Dependent, 7 DBT058 IDDM7
Diabetes Mellitus, Insulin-Dependent, 8 DBT059 IDDM8
Diabetes Mellitus, Insulin-Dependent, X-Linked DBT060
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans DBT020 IRAN TYPE A
Diabetes Mellitus, Kcnj11-Related Transient Neonatal DBT021
Diabetes Mellitus, Ketosis-Prone DBT084 KPD
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism DBT022 NDH
Diabetes Mellitus, Noninsulin-Dependent DBT026 NIDDM
Diabetes Mellitus, Noninsulin-Dependent 1 DBT035 NIDDM1
Diabetes Mellitus, Noninsulin-Dependent, 2 DBT033
Diabetes Mellitus, Noninsulin-Dependent, 5 DBT086 NIDDM5
Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension DBT023
Diabetes Mellitus, Permanent Neonatal DBT083 PNDM
Diabetes Mellitus, Transient Neonatal 2 DBT065 TNDM2
Diabetes Mellitus, Transient Neonatal, 1 DBT064 TNDM1
Diabetes Mellitus, Transient Neonatal, 3 DBT044 TNDM3
Diabetes, Mellitus, Insulin-Dependent 10 DBT074 IDDM10
Diabetic Angiopathy DBT008
Diabetic Autonomic Neuropathy DBT002
Diabetic Cataract DBT007
Diabetic Encephalopathy DBT081
Diabetic Foot Ulcers DBT062
Diabetic Macular Edema DBT006
Diabetic Neuropathy DBT010
Diabetic Polyneuropathy DBT004
Diamond Blackfan Anemia 15 with Mandibulofacial Dysostosis DMN036 DBA15
Diamond-Blackfan Anemia DMN001 BDA
Diamond-Blackfan Anemia 1 DMN023 DBA1
Diamond-Blackfan Anemia 10 DMN017 DBA10
Diamond-Blackfan Anemia 11 DMN029 DBA11
Diamond-Blackfan Anemia 12 DMN028 DBA12
Diamond-Blackfan Anemia 13 DMN030 DBA13
Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis DMN037 DBA14
Diamond-Blackfan Anemia 2 DMN005 DBA2
Diamond-Blackfan Anemia 3 DMN006 DBA3
Diamond-Blackfan Anemia 4 DMN019 DBA4
Diamond-Blackfan Anemia 5 DMN018 DBA5
Diamond-Blackfan Anemia 6 DMN021 DBA6
Diamond-Blackfan Anemia 7 DMN024 DBA7
Diamond-Blackfan Anemia 8 DMN020 DBA8
Diamond-Blackfan Anemia 9 DMN022 DBA9
Dianzani Autoimmune Lymphoproliferative Disease DNZ002 DALD
Diaphanospondylodysostosis DPH019 DSD
Diaphragm Disease DPH021
Diaphragmatic Eventration DPH006
Diaphragmatic Hernia 3 DPH016 DIH3
Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis DPH010
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma DPH007 DMSMFH
Diarrhea DRR001
Diarrhea 1, Secretory Chloride, Congenital DRR008 DIAR1
Diarrhea 3, Secretory Sodium, Congenital, Syndromic DRR004 DIAR3
Diarrhea 4, Malabsorptive, Congenital DRR005 DIAR4
Diarrhea 5, with Tufting Enteropathy, Congenital DRR003 DIAR5
Diarrhea 6 DRR009 DIAR6
Diarrhea 7 DRR007 DIAR7
Diastolic Heart Failure DST006
Diastrophic Dysplasia DST005 DTD
Dic in Newborn DCN001
Dicarboxylic Aminoaciduria DCR008 DCBXA
Dicer1-Related Disorders DCR009
Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome DCR007
Dicrocoeliasis DCR001
Diencephalic Syndrome DNC004
Dientamoebiasis DNT004
Differentiated Thyroid Carcinoma DFF036
Differentiating Neuroblastoma DFF012
Diffuse Alopecia Areata DFF010
Diffuse Alveolar Hemorrhage DFF031
Diffuse Cutaneous Mastocytosis DFF001 DCM
Diffuse Cutaneous Systemic Sclerosis DFF035 DCSSC
Diffuse Gastric Cancer DFF019
Diffuse Glomerulonephritis DFF015
Diffuse Idiopathic Skeletal Hyperostosis DFF006 DISH
Diffuse Infiltrative Lymphocytosis Syndrome DFF007
Diffuse Interstitial Keratitis DFF011
Diffuse Intrinsic Pontine Glioma DFF037 DIPG
Diffuse Large B-Cell Lymphoma DFF005 DLBCL
Diffuse Large B-Cell Lymphoma of the Central Nervous System DFF029
Diffuse Lipomatosis DFF009
Diffuse Lymphatic Malformation DFF027 GLA
Diffuse Meningeal Melanocytosis DFF013
Diffuse Mesangial Sclerosis DFF021 DMS
Diffuse Palmoplantar Keratoderma, Bothnian Type DFF023 PPKB
Diffuse Pulmonary Fibrosis DFF002
Diffuse Scleroderma DFF003
Digeorge Syndrome DGR001 DGS
Digeorge Syndrome/velocardiofacial Syndrome Complex 2 DGR006
Digital Anomalies-Intellectual Disability-Short Stature Syndrome DGT008
Digital Arthropathy-Brachydactyly DGT007
Digital Arthropathy-Brachydactyly, Familial DGT005 FDAB
Digital Clubbing, Isolated Congenital DGT002 ICNC
Dihydrolipoamide Dehydrogenase Deficiency DHY010 DLDD
Dihydrolipoamide Dehydrogenase E3 Deficiency DHY013
Dihydropyrimidine Dehydrogenase Deficiency DHY002 DPYDD
Dihydropyrimidinuria DHY005 DPYSD
Dihydroxyadeninuria DHY008
Dilated Cardiomyopathy DLT002 DCM
Dilated Cardiomyopathy 1aa DLT015
Dilated Cardiomyopathy 1b DLT016
Dilated Cardiomyopathy with Quadriceps Myopathy DLT007
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis DLT011 DCWHKTA
Dimethylglycine Dehydrogenase Deficiency DMT001 DMGDHD
Dipetalonemiasis DPT001
Diphtheria DPH001
Diphyllobothriasis DPH003
Dirofilariasis DRF001
Discharging Ear DSC001
Discitis DSC004
Discoid Lupus Erythematosus DSC009
Discrete Subaortic Stenosis DSC003
Disease of Mental Health DSS008
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase DSR005 DISPORD
Disorders of Intracellular Cobalamin Metabolism DSR002
Disseminated Intravascular Coagulation DSS009 DIC
Dissociated Nystagmus DSS005
Dissociative Amnesia DSS002
Dissociative Disorder DSS010
Distal 17p13.3 Microdeletion Syndrome DST054
Distal Arthrogryposis DST002 FSS
Distal Hereditary Motor Neuropathy DST003 DHMN
Distal Hereditary Motor Neuropathy Type 7 DST092 DHMN7
Distal Hereditary Motor Neuropathy Type V DST022 DHMN5
Distal Hereditary Motor Neuropathy, Type Ii DST027 DHMN2
Distal Monosomy 12p DST058
Distal Muscular Dystrophy DST004
Distal Myopathy with Vocal Cord Weakness DST013 MPD2
Distal Spinal Muscular Atrophy 4 DST026 DSMA4
Distichiasis DST033
Disuse Amblyopia DSS006
Diversion Colitis DVR006
Diverticulitis DVR002
Diverticulitis of Colon DVR001
Dkc1-Related Dyskeratosis Congenita DKC001
Dll3-Related Spondylocostal Dysostosis, Autosomal Recessive DLL001 SCDO1
Dmd-Associated Dilated Cardiomyopathy DMD003 XLCM
Dmd-Related Dilated Cardiomyopathy DMD004
Dnajb6-Related Myofibrillar Myopathy DNJ002
Dnajc6-Related Parkinson Disease DNJ003
Dnase1-Related Susceptibility to Systemic Lupus Erythematosus DNS006
Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy DNM001
Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy DNM002 HSNIE
Dock2 Deficiency DCK001
Dok7-Related Congenital Myasthenic Syndrome DK7001
Dok7-Related Fetal Akinesia Deformation Sequence DK7002
Dominant Dystrophic Epidermolysis Bullosa DMN011 DDEB
Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis DMN034
Dominant Ichthyosis Vulgaris DMN009
Donnai-Barrow Syndrome DNN002 DBS
Door Syndrome DRS004 DOORS
Dopamine Beta-Hydroxylase Deficiency DPM001 DBH DEFICIENCY
Dowling-Degos Disease DWL001 DDD
Dowling-Degos Disease 1 DWL002 DDD1
Dowling-Degos Disease 2 DWL003 DDD2
Dowling-Degos Disease 3 DWL005
Dowling-Degos Disease 4 DWL004 DDD4
Down Syndrome DWN001
Down Syndrome-Related Congenital Heart Disease DWN004 DSCHD
Doxorubicin Induced Cardiomyopathy DXR001
Doyne Honeycomb Degeneration of Retina DYN001 DHRD
Dpyd-Related Altered Drug Metabolism DPY004
Dracunculiasis DRC001 GWD
Dravet Syndrome DRV001 ICEGTC
Dressler's Syndrome DRS001
Drug Addiction DRG011
Drug Dependence DRG003
Drug Psychosis DRG001
Drug-Induced Hepatitis DRG002
Drug-Induced Mental Disorder DRG004
Drug-Induced Vasculitis DRG017
Dry Eye Syndrome DRY001
Dsg2-Related Dilated Cardiomyopathy DSG002
Dsp-Related Ectodermal Dysplasia/skin Fragility Syndrome DSP002
Du Pan Syndrome DPN005 DPS
Duane Retraction Syndrome DNR001 DRS
Duane Retraction Syndrome 1 DNR003
Duane Retraction Syndrome 2 DNR004 DURS2
Duane Syndrome Type 1 DNS003 DURS1
Duane Syndrome Type 2 DNS004 DURS2
Duane Syndrome Type 3 DNS005
Duane-Radial Ray Syndrome DNR002 DRRS
Duarte Variant Galactosemia DRT002
Dubin-Johnson Syndrome DBN001 DJS
Dubowitz Syndrome DBW001
Duchenne Muscular Dystrophy DCH001 DMD
Ductal Carcinoma in Situ DCT002
Dumping Syndrome DMP001
Duodenal Atresia DDN011
Duodenal Disease DDN007
Duodenal Gastrinoma DDN002
Duodenal Obstruction DDN009
Duodenal Somatostatinoma DDN005
Duodenal Ulcer DDN001
Duodenitis DDN006
Duodenogastric Reflux DDN004
Duodenum Cancer DDN010
Dupuytren Contracture DPY001
Dwarfism DWR001
Dyggve-Melchior-Clausen Disease DYG001 DMC
Dyrk1a-Related Intellectual Disability Syndrome DYR001
Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion DYR002
Dysalbuminemic Hyperthyroxinemia DYS070
Dysautonomia DYS021
Dysautonomia, Familial DYS166 HSAN3
Dysbaric Osteonecrosis DYS013 DON
Dyscalculia DYS004
Dyschromatosis Symmetrica Hereditaria DYS022 DSH
Dyschromatosis Universalis DYS133
Dyschromatosis Universalis Hereditaria DYS023 DUH
Dyschromatosis Universalis Hereditaria 1 DYS090
Dyschromatosis Universalis Hereditaria 2 DYS091
Dyschromatosis Universalis Hereditaria 3 DYS139 DUH3
Dysembryoplastic Neuroepithelial Tumor DYS006 DNET
Dysentery DYS015
Dyserythropoietic Anemia and Thrombocytopenia DYS127
Dyserythropoietic Anemia, Congenital, Type Ia DYS156 CDAN1A
Dyserythropoietic Anemia, Congenital, Type Ib DYS155 CDAN1B
Dyserythropoietic Anemia, Congenital, Type Ii DYS170 CDAN2
Dyserythropoietic Anemia, Congenital, Type Iii DYS167
Dyserythropoietic Anemia, Congenital, Type Iv DYS168 CDAN4
Dysferlinopathy DYS030
Dysfibrinogenemia DYS026
Dysfibrinogenemia, Congenital DYS165 DYSFIBRIN
Dysgammaglobulinemia DYS016
Dysgerminoma of Ovary DYS017
Dysgnathia Complex DYS038
Dysgraphia DYS003
Dyshormonogenic Goiter DYS008
Dyskeratosis Congenita DYS007 DC
Dyskeratosis Congenita Autosomal Dominant DYS039 DKCA
Dyskeratosis Congenita Autosomal Recessive DYS040 DKCB
Dyskeratosis Congenita, Autosomal Dominant 1 DYS141
Dyskeratosis Congenita, Autosomal Dominant 2 DYS143 DKCA2
Dyskeratosis Congenita, Autosomal Dominant 3 DYS147 DKCA3
Dyskeratosis Congenita, Autosomal Dominant 6 DYS174 DKCA6
Dyskeratosis Congenita, Autosomal Recessive 1 DYS149 DKCB1
Dyskeratosis Congenita, Autosomal Recessive 2 DYS144 DKCB2
Dyskeratosis Congenita, Autosomal Recessive 3 DYS150 DKCB3
Dyskeratosis Congenita, Autosomal Recessive 5 DYS152 DKCA4
Dyskeratosis Congenita, Autosomal Recessive 6 DYS173 DKCB6
Dyskeratosis Congenita, X-Linked DYS164 HHS
Dyskeratosis, Hereditary Benign Intraepithelial DYS096 DKBI
Dyskinesia of Esophagus DYS011
Dyskinesia, Familial, with Facial Myokymia DYS140 FDFM
Dyskinesia, Limb and Orofacial, Infantile-Onset DYS188 IOLOD
Dyskinetic Cerebral Palsy DYS001
Dyslexia DYS005
Dyslexia 1 DYS121 DYX1
Dyslexia 2 DYS120 DYX2
Dyslexia 3 DYS122
Dyslexia 5 DYS123
Dyslexia 6 DYS124
Dyslexia 8 DYS125
Dyslexia 9 DYS126
Dysosteosclerosis DYS045
Dysostosis DYS018
Dyspepsia DYS014
Dysphagia DYS073
Dysplasia Epiphysealis Hemimelica DYS048
Dysplastic Nevus Syndrome DYS002
Dyssegmental Dysplasia, Silverman-Handmaker Type DYS160 DDSH
Dysspondyloenchondromatosis DYS134
Dysthymic Disorder DYS009
Dystonia DYS154
Dystonia 13, Torsion, Autosomal Dominant DYS185 DYT13
Dystonia 16 DYS059 DYT16
Dystonia 17, Torsion, Autosomal Recessive DYS184
Dystonia 2 DYS186 DYT2
Dystonia 2, Torsion, Autosomal Recessive DYS063 DYT2
Dystonia 21 DYS138 DYT21
Dystonia 23 DYS145 DYT23
Dystonia 24 DYS146 DYT24
Dystonia 25 DYS151 DYT25
Dystonia 26, Myoclonic DYS175 DYT26
Dystonia 27 DYS172 DYT27
Dystonia 4 DYS137 DYT4
Dystonia 4, Torsion, Autosomal Dominant DYS163 DYT4
Dystonia 6, Torsion DYS067 DYT6
Dystonia 7 DYS072
Dystonia 9 DYS119 DYT9
Dystonia-1, Torsion DYS103 DYT1
Dystonia-11, Myoclonic DYS098 DYT11
Dystonia-12 DYS169 DYT12
Dystonia-Parkinsonism, X-Linked DYS171 DYT3
Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities DYS187 DYTOABG
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency DYS161 DRDSPRD
Dystonia, Dopa-Responsive, with or Without Hyperphenylalaninemia DYS148 DRD
Dystonia, Juvenile-Onset DYS162 DJO
Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease DYS031
Dystrophic Epidermolysis Bullosa, Nails Only DYS130
Dystrophinopathies DYS032
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