Disease Name Symbol Acronym
D-2-Hydroxyglutaric Aciduria 1 D2H002 D2HGA1
D-2-Hydroxyglutaric Aciduria 2 D2H003 D2HGA2
Dacryoadenitis DCR003
Dacryocystitis DCR004
Dacryocystocele DCR002
Dandy-Walker Syndrome DND001 DWS
Danon Disease DNN001 DAND
Danubian Endemic Familial Nephropathy DNB001 AAN
Darier-White Disease DRR014 DAR
Dartoic Leiomyoma DRT001
D-Bifunctional Protein Deficiency DBF001 DBPD
Dctn1-Related Neurodegeneration DCT005
De Novo Thrombotic Microangiopathy After Kidney Transplantation DNV002
De Quervain Disease DQR001
De Sanctis-Cacchione Syndrome DSN001 DSC
Deafness and Myopia DFN256 DFNMYP
Deafness, Aminoglycoside-Induced DFN350 DFNI
Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia DFN384 DFNA1
Deafness, Autosomal Dominant 10 DFN107 DFNA10
Deafness, Autosomal Dominant 11 DFN251 DFNA11
Deafness, Autosomal Dominant 12 DFN353 DFNA12
Deafness, Autosomal Dominant 13 DFN137 DFNA13
Deafness, Autosomal Dominant 15 DFN117 DFNA15
Deafness, Autosomal Dominant 16 DFN148 DFNA16
Deafness, Autosomal Dominant 17 DFN200 DFNA17
Deafness, Autosomal Dominant 18 DFN149 DFNA18
Deafness, Autosomal Dominant 20 DFN354 DFNA20
Deafness, Autosomal Dominant 21 DFN150 DFNA21
Deafness, Autosomal Dominant 22 DFN196 DFNA22
Deafness, Autosomal Dominant 23 DFN192 DFNA23
Deafness, Autosomal Dominant 24 DFN151 DFNA24
Deafness, Autosomal Dominant 25 DFN189 DFNA25
Deafness, Autosomal Dominant 27 DFN152 DFNA27
Deafness, Autosomal Dominant 28 DFN094 DFNA28
Deafness, Autosomal Dominant 2a DFN190 DFNA2A
Deafness, Autosomal Dominant 2b DFN099 DFNA2B
Deafness, Autosomal Dominant 30 DFN153 DFNA30
Deafness, Autosomal Dominant 31 DFN154 DFNA31
Deafness, Autosomal Dominant 33 DFN257 DFNA33
Deafness, Autosomal Dominant 34, with or Without Inflammation DFN362 DFNA34
Deafness, Autosomal Dominant 36 DFN128 DFNA36
Deafness, Autosomal Dominant 37 DFN379 DFNA37
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 DFN355 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 DFNA43
Deafness, Autosomal Dominant 44 DFN118 DFNA44
Deafness, Autosomal Dominant 47 DFN157 DFNA47
Deafness, Autosomal Dominant 48 DFN202 DFNA48
Deafness, Autosomal Dominant 49 DFN158 DFNA49
Deafness, Autosomal Dominant 4a DFN267 DFNA4A
Deafness, Autosomal Dominant 4b DFN266 DFNA4B
Deafness, Autosomal Dominant 5 DFN159 DFNA5
Deafness, Autosomal Dominant 50 DFN119 DFNA50
Deafness, Autosomal Dominant 51 DFN246 DFNA51
Deafness, Autosomal Dominant 52 DFN160 DFNA52
Deafness, Autosomal Dominant 53 DFN161 DFNA53
Deafness, Autosomal Dominant 54 DFN272 DFNA54
Deafness, Autosomal Dominant 56 DFN274 DFNA56
Deafness, Autosomal Dominant 58 DFN271 DFNA58
Deafness, Autosomal Dominant 59 DFN162 DFNA59
Deafness, Autosomal Dominant 6 DFN351 DFNA6
Deafness, Autosomal Dominant 64 DFN255 DFNA64
Deafness, Autosomal Dominant 65 DFN278 DFNA65
Deafness, Autosomal Dominant 66 DFN329 DFNA66
Deafness, Autosomal Dominant 67 DFN284 DFNA67
Deafness, Autosomal Dominant 68 DFN336 DFNA68
Deafness, Autosomal Dominant 69 DFN360 DFNA69
Deafness, Autosomal Dominant 7 DFN163 DFNA7
Deafness, Autosomal Dominant 70 DFN327 DFNA70
Deafness, Autosomal Dominant 71 DFN335 DFNA71
Deafness, Autosomal Dominant 72 DFN328 DFNA72
Deafness, Autosomal Dominant 73 DFN333 DFNA73
Deafness, Autosomal Dominant 74 DFN368 DFNA74
Deafness, Autosomal Dominant 75 DFN381 DFNA75
Deafness, Autosomal Dominant 76 DFN382 DFNA76
Deafness, Autosomal Dominant 77 DFN383 DFNA77
Deafness, Autosomal Dominant 78 DFN385 DFNA78
Deafness, Autosomal Dominant 79 DFN386 DFNA79
Deafness, Autosomal Dominant 80 DFN390 DFNA80
Deafness, Autosomal Dominant 81 DFN392 DFNA81
Deafness, Autosomal Dominant 82 DFN395 DFNA82
Deafness, Autosomal Dominant 83 DFN396 DFNA83
Deafness, Autosomal Dominant 84 DFN397 DFNA84
Deafness, Autosomal Dominant 9 DFN136 DFNA9
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 DFN024
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 DFN027 DFNA3
Deafness, Autosomal Recessive DFN280
Deafness, Autosomal Recessive 100 DFN374 DFNB100
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 106 DFN361 DFNB106
Deafness, Autosomal Recessive 107 DFN337 DFNB107
Deafness, Autosomal Recessive 108 DFN325 DFNB108
Deafness, Autosomal Recessive 109 DFN365 DFNB109
Deafness, Autosomal Recessive 110 DFN367 DFNB110
Deafness, Autosomal Recessive 111 DFN369 DFNB111
Deafness, Autosomal Recessive 112 DFN371 DFNB112
Deafness, Autosomal Recessive 113 DFN373 DFNB113
Deafness, Autosomal Recessive 114 DFN376 DFNB114
Deafness, Autosomal Recessive 115 DFN377 DFNB115
Deafness, Autosomal Recessive 116 DFN387 DFNB116
Deafness, Autosomal Recessive 117 DFN388 DFNB117
Deafness, Autosomal Recessive 118, with Cochlear Aplasia DFN393 DFNB118
Deafness, Autosomal Recessive 119 DFN394 DFNB119
Deafness, Autosomal Recessive 12 DFN141 DFNB12
Deafness, Autosomal Recessive 13 DFN164 DFNB13
Deafness, Autosomal Recessive 14 DFN165 DFNB14
Deafness, Autosomal Recessive 15 DFN262 DFNB15
Deafness, Autosomal Recessive 16 DFN143 DFNB16
Deafness, Autosomal Recessive 17 DFN166 DFNB17
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 DFNB20
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 DFNB26
Deafness, Autosomal Recessive 26, Modifier of DFN363 DFNB26M
Deafness, Autosomal Recessive 27 DFN169 DFNB27
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, with or Without Immotile Sperm DFN366 DFNB32
Deafness, Autosomal Recessive 33 DFN171 DFNB33
Deafness, Autosomal Recessive 35 DFN111 DFNB35
Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement DFN356 DFNB36
Deafness, Autosomal Recessive 37 DFN197 DFNB37
Deafness, Autosomal Recessive 38 DFN172 DFNB38
Deafness, Autosomal Recessive 39 DFN120 DFNB39
Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct DFN245 DFNB4
Deafness, Autosomal Recessive 40 DFN173 DFNB40
Deafness, Autosomal Recessive 42 DFN244 DFNB42
Deafness, Autosomal Recessive 44 DFN174 DFNB44
Deafness, Autosomal Recessive 45 DFN175 DFNB45
Deafness, Autosomal Recessive 46 DFN261 DFNB46
Deafness, Autosomal Recessive 47 DFN357 DFNB47
Deafness, Autosomal Recessive 48 DFN258 DFNB48
Deafness, Autosomal Recessive 49 DFN092 DFNB49
Deafness, Autosomal Recessive 5 DFN177 DFNB5
Deafness, Autosomal Recessive 51 DFN029 DFNB51
Deafness, Autosomal Recessive 53 DFN138 DFNB53
Deafness, Autosomal Recessive 55 DFN030 DFNB55
Deafness, Autosomal Recessive 57 DFN364 DFNB57
Deafness, Autosomal Recessive 59 DFN178 DFNB59
Deafness, Autosomal Recessive 6 DFN124 DFNB6
Deafness, Autosomal Recessive 61 DFN188 DFNB61
Deafness, Autosomal Recessive 62 DFN179 DFNB62
Deafness, Autosomal Recessive 63 DFN112 DFNB63
Deafness, Autosomal Recessive 65 DFN180 DFNB65
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, with or Without Adult-Onset Neurodegeneration DFN398 DFNB70
Deafness, Autosomal Recessive 71 DFN182 DFNB71
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 DFN352 DFNB8
Deafness, Autosomal Recessive 83 DFN183 DFNB83
Deafness, Autosomal Recessive 84a DFN253 DFNB84A
Deafness, Autosomal Recessive 84b DFN254 DFNB84B
Deafness, Autosomal Recessive 85 DFN184 DFNB85
Deafness, Autosomal Recessive 86 DFN259 DFNB86
Deafness, Autosomal Recessive 88 DFN243 DFNB88
Deafness, Autosomal Recessive 89 DFN260 DFNB89
Deafness, Autosomal Recessive 9 DFN133 DFNB9
Deafness, Autosomal Recessive 91 DFN135 DFNB91
Deafness, Autosomal Recessive 93 DFN249 DFNB93
Deafness, Autosomal Recessive 94 DFN375 DFNB94
Deafness, Autosomal Recessive 96 DFN240 DFNB96
Deafness, Autosomal Recessive 97 DFN330 DFNB97
Deafness, Autosomal Recessive 98 DFN269 DFNB98
Deafness, Autosomal Recessive 99 DFN378 DFNB99
Deafness, Cataract, Impaired Intellectual Development, and Polyneuropathy DFN391 DCIDP
Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities DFN145
Deafness, Congenital Heart Defects, and Posterior Embryotoxon DFN191 DCHE
Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy DFN389 DEAPLE
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia DFN358 LAMM
Deafness, Congenital, with Onychodystrophy, Autosomal Dominant DFN331 DDOD
Deafness, Dystonia, and Cerebral Hypomyelination DFN270 DDCH
Deafness, Nonsyndromic Sensorineural, Mitochondrial DFN349 DFNM
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome DFN344 DOORS
Deafness, Unilateral DFN341
Deafness, X-Linked 1 DFN194 DFNX1
Deafness, X-Linked 2 DFN036 DFNX2
Deafness, X-Linked 3 DFN146 DFNX3
Deafness, X-Linked 4 DFN147 DFNX4
Deafness, X-Linked 5, with Peripheral Neuropathy DFN380 DFNX5
Deafness, X-Linked 6 DFN276 DFNX6
Deafness, X-Linked 7 DFN370 DFNX7
Deafness, Y-Linked 1 DFN186 DFNY1
Deafness, Y-Linked 2 DFN372 DFNY2
Deafness-Infertility Syndrome DFN039 DIS
Decubitus Ulcer DCB001
Dedifferentiated Liposarcoma DDF001 DDLS
Deeah Syndrome DHS002 DEEAH
Deep Corneal Vascularisation DPC001
Deep Keratitis DPK001
Deep Leiomyoma DPL001
Deficiency Anemia DFC004
Degcags Syndrome DGC001 DEGCAGS
Degeneration of Macula and Posterior Pole DGN003
Degenerative Disc Disease DGN001
Degenerative Myopia DGN002
Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema DHY016 DHS1
Dehydrated Hereditary Stomatocytosis 2 DHY015 DHS2
Delayed Puberty, Self-Limited DLY011 DPSL
Delayed Sleep Phase Disorder DLY008 DSPD
Deletion 5q35 DLT013
Delpire-Mcneill Syndrome DLP001 DELMNES
Delusional Disorder DLS001
Dementia DMN002
Dementia, Lewy Body DMN031 DLB
Demyelinating Disease DMY004
Demyelinating Polyneuropathy DMY001
Dendritic Cell Deficiency DND022
Dendritic Cell Thymoma DND003
Dengue Disease DNG003 DF
Dengue Hemorrhagic Fever DNG002 DHF
Dengue Shock Syndrome DNG001 DSS
Dengue Virus DNG005
Dens Evaginatus DNS009
Dent Disease 1 DNT020 DENT1
Dent Disease 2 DNT021 DENT2
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
Dentatorubral-Pallidoluysian Atrophy DNT005 DRPLA
Dentici-Novelli Neurodevelopmental Syndrome DNT053 DENNED
Dentin Caries DNT010
Dentin Dysplasia DNT009 DD
Dentin Dysplasia, Type I DNT051 DTDP1
Dentin Dysplasia, Type Ii DNT027 DTDP2
Dentin Sensitivity DNT007
Dentine Erosion DNT002
Dentinogenesis Imperfecta DNT011 DI
Dentinogenesis Imperfecta 1 DNT025 DGI1
Dentinogenesis Imperfecta, Shields Type Iii DNT044 DGI3
Denture Stomatitis DNT008
Denys-Drash Syndrome DNY001 DDS
Dependent Personality Disorder DPN001
Depersonalization Disorder DPR002
Deprivation Amblyopia DPR017
Dermatitis DRM006
Dermatitis Herpetiformis DRM007 DH
Dermatitis, Atopic DRM053 ATOD
Dermatitis, Atopic, 2 DRM054 ATOD2
Dermatitis, Atopic, 3 DRM055 ATOD3
Dermatitis, Atopic, 4 DRM056 ATOD4
Dermatitis, Atopic, 5 DRM057 ATOD5
Dermatitis, Atopic, 6 DRM058 ATOD6
Dermatitis, Atopic, 7 DRM059 ATOD7
Dermatitis, Atopic, 8 DRM060 ATOD8
Dermatitis, Atopic, 9 DRM061 ATOD9
Dermatofibrosarcoma Protuberans DRM014 DFSP
Dermatographia DRM008
Dermatomycosis DRM009
Dermatomyositis DRM010
Dermatopathia Pigmentosa Reticularis DRM021 DPR
Dermatophytosis DRM011 TINEA
Dermatosis Papulosa Nigra DRM003
Dermis Tumor DRM012
Dermoid Cyst of Ovary DRM005
Dermoids of Cornea DRM015 CND
Dermoodontodysplasia DRM023
Desanto-Shinawi Syndrome DSN002 DESSH
Desbuquois Dysplasia DSB002
Desbuquois Dysplasia 1 DSB006 DBQD1
Desbuquois Dysplasia 2 DSB005 DBQD2
Descending Colon Cancer DSC005
Desmoid Disease, Hereditary DSM003 DESMD
Desmoid Tumor DSM004 FIF
Desmoplastic Nodular Medulloblastoma DSM017 MBEN
Desmoplastic Small Round Cell Tumor DSM007 DSRCT
Desmosterolosis DSM002 DESMOS
Detrusor Sphincter Dyssynergia DTR001
Developmental and Epileptic Encephalopathy DVL113
Developmental and Epileptic Encephalopathy 1 DVL033 DEE1
Developmental and Epileptic Encephalopathy 100 DVL131 DEE100
Developmental and Epileptic Encephalopathy 101 DVL132 DEE101
Developmental and Epileptic Encephalopathy 102 DVL134 DEE102
Developmental and Epileptic Encephalopathy 103 DVL135 DEE103
Developmental and Epileptic Encephalopathy 104 DVL136 DEE104
Developmental and Epileptic Encephalopathy 105 with Hypopituitarism DVL139 DEE105
Developmental and Epileptic Encephalopathy 106 DVL141 DEE106
Developmental and Epileptic Encephalopathy 107 DVL142 DEE107
Developmental and Epileptic Encephalopathy 11 DVL039 DEE11
Developmental and Epileptic Encephalopathy 12 DVL040 DEE12
Developmental and Epileptic Encephalopathy 13 DVL041 DEE13
Developmental and Epileptic Encephalopathy 14 DVL042 DEE14
Developmental and Epileptic Encephalopathy 15 DVL043 DEE15
Developmental and Epileptic Encephalopathy 16 DVL044 DEE16
Developmental and Epileptic Encephalopathy 17 DVL045 DEE17
Developmental and Epileptic Encephalopathy 18 DVL046 DEE18
Developmental and Epileptic Encephalopathy 19 DVL047 DEE19
Developmental and Epileptic Encephalopathy 2 DVL029 DEE2
Developmental and Epileptic Encephalopathy 21 DVL048 DEE21
Developmental and Epileptic Encephalopathy 23 DVL049 DEE23
Developmental and Epileptic Encephalopathy 24 DVL050 DEE24
Developmental and Epileptic Encephalopathy 25 DVL129 DEE25
Developmental and Epileptic Encephalopathy 25 with Amelogenesis Imperfecta DVL123 DEE25
Developmental and Epileptic Encephalopathy 26 DVL052 DEE26
Developmental and Epileptic Encephalopathy 27 DVL053 DEE27
Developmental and Epileptic Encephalopathy 28 DVL054 DEE28
Developmental and Epileptic Encephalopathy 29 DVL055 DEE29
Developmental and Epileptic Encephalopathy 3 DVL034 DEE3
Developmental and Epileptic Encephalopathy 30 DVL056 DEE30
Developmental and Epileptic Encephalopathy 31 DVL057 DEE31
Developmental and Epileptic Encephalopathy 32 DVL058 DEE32
Developmental and Epileptic Encephalopathy 33 DVL059 DEE33
Developmental and Epileptic Encephalopathy 34 DVL061 DEE34
Developmental and Epileptic Encephalopathy 35 DVL062 DEE35
Developmental and Epileptic Encephalopathy 36 DVL030 DEE36
Developmental and Epileptic Encephalopathy 37 DVL063 DEE37
Developmental and Epileptic Encephalopathy 38 DVL064 DEE38
Developmental and Epileptic Encephalopathy 39 DVL036 DEE39
Developmental and Epileptic Encephalopathy 4 DVL035 DEE4
Developmental and Epileptic Encephalopathy 40 DVL065 DEE40
Developmental and Epileptic Encephalopathy 41 DVL066 DEE41
Developmental and Epileptic Encephalopathy 42 DVL067 DEE42
Developmental and Epileptic Encephalopathy 43 DVL068 DEE43
Developmental and Epileptic Encephalopathy 44 DVL069 DEE44
Developmental and Epileptic Encephalopathy 45 DVL070 DEE45
Developmental and Epileptic Encephalopathy 46 DVL071 DEE46
Developmental and Epileptic Encephalopathy 47 DVL072 DEE47
Developmental and Epileptic Encephalopathy 48 DVL073 DEE48
Developmental and Epileptic Encephalopathy 49 DVL074 DEE49
Developmental and Epileptic Encephalopathy 5 DVL037 DEE5
Developmental and Epileptic Encephalopathy 50 DVL060 DEE50
Developmental and Epileptic Encephalopathy 51 DVL075 DEE51
Developmental and Epileptic Encephalopathy 52 DVL076 DEE52
Developmental and Epileptic Encephalopathy 53 DVL077 DEE53
Developmental and Epileptic Encephalopathy 54 DVL078 DEE54
Developmental and Epileptic Encephalopathy 55 DVL079 DEE55
Developmental and Epileptic Encephalopathy 56 DVL080 DEE56
Developmental and Epileptic Encephalopathy 57 DVL081 DEE57
Developmental and Epileptic Encephalopathy 58 DVL082 DEE58
Developmental and Epileptic Encephalopathy 59 DVL083 DEE59
Developmental and Epileptic Encephalopathy 60 DVL084 DEE60
Developmental and Epileptic Encephalopathy 61 DVL085 DEE61
Developmental and Epileptic Encephalopathy 62 DVL086 DEE62
Developmental and Epileptic Encephalopathy 63 DVL087 DEE63
Developmental and Epileptic Encephalopathy 64 DVL088 DEE64
Developmental and Epileptic Encephalopathy 65 DVL089 DEE65
Developmental and Epileptic Encephalopathy 66 DVL090 DEE66
Developmental and Epileptic Encephalopathy 67 DVL091 DEE67
Developmental and Epileptic Encephalopathy 68 DVL092 DEE68
Developmental and Epileptic Encephalopathy 69 DVL093 DEE69
Developmental and Epileptic Encephalopathy 6b DVL119 DEE6B
Developmental and Epileptic Encephalopathy 7 DVL038 DEE7
Developmental and Epileptic Encephalopathy 70 DVL094 DEE70
Developmental and Epileptic Encephalopathy 71 DVL095 DEE71
Developmental and Epileptic Encephalopathy 72 DVL096 DEE72
Developmental and Epileptic Encephalopathy 73 DVL097 DEE73
Developmental and Epileptic Encephalopathy 74 DVL098 DEE74
Developmental and Epileptic Encephalopathy 75 DVL099 DEE75
Developmental and Epileptic Encephalopathy 76 DVL100 DEE76
Developmental and Epileptic Encephalopathy 78 DVL101 DEE78
Developmental and Epileptic Encephalopathy 79 DVL102 DEE79
Developmental and Epileptic Encephalopathy 8 DVL028 DEE8
Developmental and Epileptic Encephalopathy 80 DVL103 DEE80
Developmental and Epileptic Encephalopathy 81 DVL104 DEE81
Developmental and Epileptic Encephalopathy 82 DVL105 DEE82
Developmental and Epileptic Encephalopathy 83 DVL106 DEE83
Developmental and Epileptic Encephalopathy 84 DVL107 DEE84
Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects DVL031 DEE85
Developmental and Epileptic Encephalopathy 86 DVL108 DEE86
Developmental and Epileptic Encephalopathy 87 DVL109 DEE87
Developmental and Epileptic Encephalopathy 88 DVL110 DEE88
Developmental and Epileptic Encephalopathy 89 DVL112 DEE89
Developmental and Epileptic Encephalopathy 9 DVL027 DEE9
Developmental and Epileptic Encephalopathy 90 DVL032 DEE90
Developmental and Epileptic Encephalopathy 91 DVL114 DEE91
Developmental and Epileptic Encephalopathy 92 DVL115 DEE92
Developmental and Epileptic Encephalopathy 93 DVL116 DEE93
Developmental and Epileptic Encephalopathy 94 DVL118 DEE94
Developmental and Epileptic Encephalopathy 95 DVL120 DEE95
Developmental and Epileptic Encephalopathy 96 DVL121 DEE96
Developmental and Epileptic Encephalopathy 97 DVL124 DEE97
Developmental and Epileptic Encephalopathy 98 DVL127 DEE98
Developmental and Epileptic Encephalopathy 99 DVL128 DEE99
Developmental Coordination Disorder DVL001
Developmental Defect of the Eye DVL026
Developmental Delay and Seizures with or Without Movement Abnormalities DVL019 DEDSM
Developmental Delay with Dysmorphic Facies and Dental Anomalies DVL117 DEFDA
Developmental Delay with or Without Dysmorphic Facies and Autism DVL024 DEDDFA
Developmental Delay with or Without Intellectual Impairment or Behavioral Abnormalities DVL125 DDIB
Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 1 DVL137 DEDSSH1
Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2 DVL143 DEDSSH2
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities DVL021 DDVIBA
Developmental Delay with Variable Neurologic and Brain Abnormalities DVL130 DENBA
Developmental Delay, Behavioral Abnormalities, and Neuropsychiatric Disorders DVL144 DEDBANP
Developmental Delay, Hypotonia, and Impaired Language DVL140 DEDHIL
Developmental Delay, Hypotonia, Musculoskeletal Defects, and Behavioral Abnormalities DVL126 DEHMBA
Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy DVL111 DIGFAN
Developmental Delay, Impaired Speech, and Behavioral Abnormalities DVL122 DDISBA
Developmental Delay, Impaired Speech, and Behavioral Abnormalities, with or Without Seizures DVL138 DEDISB
Developmental Dysplasia of the Hip 1 DVL012 DDH1
Developmental Dysplasia of the Hip 2 DVL011 DDH2
Dextrocardia DXT001
Dextrocardia with Situs Inversus DXT002
Dfna2 Nonsyndromic Hearing Loss DFN001
Dfnb1 DFN038 DFNB1
D-Glyceric Aciduria DGL002 D-GA
Diabetes and Deafness, Maternally Inherited DBT090 MIDD
Diabetes Insipidus DBT005
Diabetes Insipidus, Nephrogenic, 1, X-Linked DBT110 NDI1
Diabetes Insipidus, Nephrogenic, 2, Autosomal DBT108 NDI2
Diabetes Insipidus, Neurohypophyseal DBT087 NDI
Diabetes Mellitus DBT009
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans DBT020 IRAN TYPE A
Diabetes Mellitus, Ketosis-Prone DBT084 KPD
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism DBT022 NDH
Diabetes Mellitus, Permanent Neonatal, 1 DBT104 PNDM1
Diabetes Mellitus, Permanent Neonatal, 2 DBT105 PNDM2
Diabetes Mellitus, Permanent Neonatal, 3 DBT106 PNDM3
Diabetes Mellitus, Permanent Neonatal, 4 DBT107 PNDM4
Diabetes Mellitus, Transient Neonatal, 1 DBT064 TNDM1
Diabetes Mellitus, Transient Neonatal, 2 DBT098 TNDM2
Diabetes Mellitus, Transient Neonatal, 3 DBT044 TNDM3
Diabetic Angiopathy DBT008
Diabetic Autonomic Neuropathy DBT002
Diabetic Cataract DBT007
Diabetic Encephalopathy DBT081
Diabetic Macular Edema DBT006
Diabetic Neuropathy DBT010
Diabetic Polyneuropathy DBT004
Dialysis-Related Amyloidosis DLY010 DRA
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 15 with Mandibulofacial Dysostosis DMN043 DBA15
Diamond-Blackfan Anemia 16 DMN040 DBA16
Diamond-Blackfan Anemia 17 DMN039 DBA17
Diamond-Blackfan Anemia 18 DMN047 DBA18
Diamond-Blackfan Anemia 19 DMN048 DBA19
Diamond-Blackfan Anemia 2 DMN005 DBA2
Diamond-Blackfan Anemia 20 DMN049 DBA20
Diamond-Blackfan Anemia 21 DMN050 DBA21
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
Diamond-Blackfan Anemia-Like DMN045 DBAL
Dianzani Autoimmune Lymphoproliferative Disease DNZ002 DALD
Diaphanospondylodysostosis DPH019 DSD
Diaphragm Disease DPH021
Diaphragmatic Eventration DPH006
Diaphragmatic Hernia 2 DPH025 DIH2
Diaphragmatic Hernia 3 DPH016 DIH3
Diaphragmatic Hernia 4, with Cardiovascular Defects DPH031 DIH4
Diaphragmatic Hernia, Congenital DPH024 CDH
Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome DPH029
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma DPH007 DMSMFH
Diarrhea DRR001
Diarrhea 1, Secretory Chloride, Congenital DRR008 DIAR1
Diarrhea 10, Protein-Losing Enteropathy Type DRR020 DIAR10
Diarrhea 11, Malabsorptive, Congenital DRR021 DIAR11
Diarrhea 12, with Microvillus Atrophy DRR022 DIAR12
Diarrhea 2, with Microvillus Atrophy, with or Without Cholestasis DRR023 DIAR2
Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies DRR017 DIAR3
Diarrhea 4, Malabsorptive, Congenital DRR005 DIAR4
Diarrhea 5, with Tufting Enteropathy, Congenital DRR003 DIAR5
Diarrhea 6 DRR009 DIAR6
Diarrhea 7, Protein-Losing Enteropathy Type DRR019 DIAR7
Diarrhea 8, Secretory Sodium, Congenital DRR013 DIAR8
Diarrhea 9 DRR018 DIAR9
Diastolic Heart Failure DST006
Diastrophic Dysplasia DST005 DTD
Dic in Newborn DCN001
Dicarboxylic Aminoaciduria DCR008 DCBXA
Dicer1 Syndrome DCR011
Diclofenac Allergy DCL001
Dicrocoeliasis DCR001
Diencephalic Astrocytoma DNC009
Diencephalic Neoplasm DNC002
Diencephalic-Mesencephalic Junction Dysplasia DNC006
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 DNC007 DMJDS1
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 DNC008 DMJDS2
Dientamoebiasis DNT004
Diets-Jongmans Syndrome DTS001 DIJOS
Dieulafoy Lesion DLF001
Differentiated Thyroid Carcinoma DFF036
Differentiating Neuroblastoma DFF012
Diffuse Alopecia Areata DFF010
Diffuse Astrocytoma DFF016
Diffuse Cutaneous Systemic Sclerosis DFF035 DCSSC
Diffuse Gastric and Lobular Breast Cancer Syndrome DFF043 DGLBC
Diffuse Gastric Cancer DFF019 FDGC
Diffuse Glioma, H3 G34 Mutant DFF040
Diffuse Glomerulonephritis DFF015
Diffuse Idiopathic Skeletal Hyperostosis DFF006 DISH
Diffuse Infiltrative Lymphocytosis Syndrome DFF007
Diffuse Large B-Cell Lymphoma DFF005 DLBCL
Diffuse Large B-Cell Lymphoma Activated B-Cell Type DFF041
Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type DFF042
Diffuse Lipomatosis DFF009
Diffuse Meningeal Melanocytosis DFF013
Diffuse Mesangial Sclerosis DFF021 DMS
Diffuse Midline Glioma, H3 K27m-Mutant DFF039 DIPG
Diffuse Palmoplantar Keratoderma DFF038
Diffuse Peritoneal Leiomyomatosis DFF004 DPL
Diffuse Pulmonary Fibrosis DFF002
Diffuse Scleroderma DFF003
Digenic Disease DGN006
Digeorge Syndrome DGR001 DGS
Digeorge Syndrome/velocardiofacial Syndrome Complex 2 DGR006 DGS2
Digital Arthropathy-Brachydactyly, Familial DGT005 FDAB
Digital Clubbing, Isolated Congenital DGT002 DIGC
Dihydrolipoamide Dehydrogenase Deficiency DHY010 DLDD
Dihydropyrimidinase Deficiency DHY011 DPYSD
Dihydropyrimidine Dehydrogenase Deficiency DHY002 DPYDD
Dilated Cardiomyopathy DLT002 DCM
Dilated Cardiomyopathy 1t DLT017
Dimethylglycine Dehydrogenase Deficiency DMT001 DMGDHD
Dioctophymiasis DCT001
Dipetalonemiasis DPT001
Diphtheria DPH001
Diphyllobothriasis DPH003
Diplegia of Upper Limb DPL002
Dipsogenic Diabetes Insipidus DPS001
Dirofilariasis DRF001
Discitis DSC004
Discoid Lupus Erythematosus DSC009
Discrete Subaortic Stenosis DSC003
Disease by Infectious Agent DSS032
Disease of Mental Health DSS008
Disorder of Copper Metabolism DSR031
Disorder of Ornithine Metabolism DSR020
Disorder of Purine Metabolism DSR074
Disorder of Sexual Development DSR090 DSD
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency DSR012 DISPORD
Disorders of Intracellular Cobalamin Metabolism DSR002
Displacement of Cardia Through Esophageal Hiatus DSP001
Disseminated Chorioretinitis DSS001
Disseminated Eosinophilic Collagen Disease DSS003
Disseminated Intravascular Coagulation DSS009 DIC
Dissociated Nystagmus DSS005
Dissociative Amnesia DSS002
Dissociative Disorder DSS010
Distal 17p13.3 Microdeletion Syndrome DST054
Distal Arthrogryposis DST002 AMC
Distal Biliary Tract Carcinoma DST001
Distal Hereditary Motor Neuronopathy Type 2 DST106 HMN2
Distal Hereditary Motor Neuronopathy Type 7 DST105 DHMN7
Distal Hereditary Motor Neuropathy Type 7 DST092 DHMN7
Distal Monosomy 12p DST058
Distal Muscular Dystrophy with Anterior Tibial Onset DST103 DMAT
Distal Myopathy with Vocal Cord Weakness DST013 MPD2
Distal Nebulin Myopathy DST102
Distal Renal Tubular Acidosis DST107 DRTA
Distal Renal Tubular Acidosis with Hemolytic Anemia DST108
Distichiasis DST033
Diversion Colitis DVR006
Diverticulitis DVR002
Diverticulitis of Colon DVR001
D-Lactic Aciduria with Gout DLC002 DLACD
D-Minus Hemolytic Uremic Syndrome DMN007 AHUS
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 DNJ004
Dock8 Immunodeficiency Syndrome DCK002
Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis DMN034
Donnai-Barrow Syndrome DNN002 DBS
Donohue Syndrome DNH001 LEPRCH
Dopamine Beta-Hydroxylase Deficiency DPM001
Double Outlet Right Ventricle DBL002 DORV
Double Pterygium DBL001
Dowling-Degos Disease DWL001 DDD
Dowling-Degos Disease 1 DWL002 DDD1
Dowling-Degos Disease 2 DWL003 DDD2
Dowling-Degos Disease 3 DWL005 DDD3
Dowling-Degos Disease 4 DWL004 DDD4
Down Syndrome DWN001
Doyne Honeycomb Retinal Dystrophy DYN002 DHRD
Dracunculiasis DRC001 GWD
Dravet Syndrome DRV001 DRVT
Dressler's Syndrome DRS001
Drug Allergy DRG024
Drug Dependence DRG003
Drug Metabolism, Altered, Ces1-Related DRG023
Drug Metabolism, Altered, Cyp2c8-Related DRG022
Drug Metabolism, Poor, Cyp2c19-Related DRG021
Drug Metabolism, Poor, Cyp2d6-Related DRG020
Drug- or Toxin-Induced Pulmonary Arterial Hypertension DRG027
Drug Psychosis DRG001
Drug-Induced Hearing Loss DRG025
Drug-Induced Hepatitis DRG002
Drug-Induced Lupus Erythematosus DRG013 DIL
Drug-Induced Mental Disorder DRG004
Dry Beriberi DRY002
Dry Eye Syndrome DRY001
Duane Retraction Syndrome DNR001 DRS
Duane Retraction Syndrome 1 DNR003 DURS1
Duane Retraction Syndrome 2 DNR004 DURS2
Duane Retraction Syndrome 3 with or Without Deafness DNR006 DURS3
Duane-Radial Ray Syndrome DNR002 DRRS
Dubin-Johnson Syndrome DBN001 DJS
Dubowitz Syndrome DBW001
Ductal Carcinoma in Situ DCT002
Dumping Syndrome DMP001
Duodenal Atresia DDN011
Duodenal Benign Neoplasm DDN023
Duodenal Gastrinoma DDN002
Duodenal Obstruction DDN009
Duodenal Somatostatinoma DDN005
Duodenal Ulcer DDN001
Duodenitis DDN006
Duodenogastric Reflux DDN004
Duodenum Adenocarcinoma DDN003
Duodenum Adenoma DDN022
Duodenum Cancer DDN010
Duodenum Disease DDN027
Dupuytren Contracture DPY001
Dworschak-Punetha Neurodevelopmental Syndrome DWR024 DWOPNED
Dyggve-Melchior-Clausen Disease DYG001 DMC
Dyrk1a-Related Intellectual Disability Syndrome DYR001
Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion DYR002
Dysautonomia DYS021
Dysbaric Osteonecrosis DYS013 DON
Dyscalculia DYS004
Dyschromatosis Symmetrica Hereditaria DYS022 DSH
Dyschromatosis Universalis Hereditaria DYS023 DUH
Dyschromatosis Universalis Hereditaria 1 DYS090 DUH1
Dyschromatosis Universalis Hereditaria 2 DYS091 DUH2
Dyschromatosis Universalis Hereditaria 3 DYS139 DUH3
Dysembryoplastic Neuroepithelial Tumor DYS006 DNET
Dysentery DYS015
Dyserythropoietic Anemia and Thrombocytopenia DYS127
Dysferlinopathy DYS030
Dysfibrinogenemia, Congenital DYS165 DYSFIBRIN
Dysgammaglobulinemia DYS016
Dysgerminoma DYS101
Dysgerminoma of Ovary DYS017
Dysgraphia DYS003
Dyshormonogenic Goiter DYS008
Dyskeratosis Congenita DYS007 DC
Dyskeratosis Congenita Autosomal Recessive DYS040 DKCB
Dyskeratosis Congenita, Autosomal Dominant 1 DYS141 DKCA1
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 DKCB5
Dyskeratosis Congenita, Autosomal Recessive 6 DYS173 DKCB6
Dyskeratosis Congenita, Digenic DYS224 DKCD
Dyskeratosis Congenita, X-Linked DYS164 DKCX
Dyskeratosis, Hereditary Benign Intraepithelial DYS096 HBID
Dyskinesia of Esophagus DYS011
Dyskinesia with Orofacial Involvement, Autosomal Dominant DYS215 DSKOD
Dyskinesia with Orofacial Involvement, Autosomal Recessive DYS217 DSKOR
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 DYX3
Dyslexia 5 DYS123 DYX5
Dyslexia 6 DYS124 DYX6
Dyslexia 8 DYS125 DYX8
Dyslexia 9 DYS126 DYX9
Dysosteosclerosis DYS045
Dysostosis DYS018
Dysostosis Multiplex, Ain-Naz Type DYS213 DMAN
Dysplastic Nevus Syndrome DYS002
Dyssegmental Dysplasia, Silverman-Handmaker Type DYS160 DDSH
Dysspondyloenchondromatosis DYS134
Dysthymic Disorder DYS009
Dystonia DYS154
Dystonia 1, Torsion, Autosomal Dominant DYS191 DYT1
Dystonia 11, Myoclonic DYS193 DYT11
Dystonia 12 DYS056 DYT12
Dystonia 13, Torsion, Autosomal Dominant DYS185 DYT13
Dystonia 15, Myoclonic DYS058 DYT15
Dystonia 16 DYS059 DYT16
Dystonia 17, Torsion, Autosomal Recessive DYS184 DYT17
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 28 DYS223 DYT28
Dystonia 28, Childhood-Onset DYS190 DYT28
Dystonia 3, Torsion, X-Linked DYS064 DYT3
Dystonia 30 DYS212 DYT30
Dystonia 31 DYS214 DYT31
Dystonia 32 DYS216 DYT32
Dystonia 33 DYS219 DYT33
Dystonia 34, Myoclonic DYS220 DYT34
Dystonia 35, Childhood-Onset DYS222 DYT35
Dystonia 4, Torsion, Autosomal Dominant DYS163 DYT4
Dystonia 6, Torsion DYS067 DYT6
Dystonia 7, Torsion DYS068 DYT7
Dystonia 9 DYS119 DYT9
Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities DYS187 DYTOABG
Dystonia, Dopa-Responsive DYS192 DRD
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency DYS161 DRDSPRD
Dystonia, Early-Onset, and/or Spastic Paraplegia DYS218 DYTSPG
Dystonia, Juvenile-Onset DYS162 DJO
Dystrophinopathies DYS032
Dyt1 Early-Onset Isolated Dystonia DYT002 DYT1
Dyt-Gnal DYT003 DYT25
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