Disease Name Symbol Acronym
D Ercole Syndrome DRC002
D-2-Hydroxyglutaric Aciduria 1 D2H002 D2HGA1
D-2-Hydroxyglutaric Aciduria 2 D2H003 D2HGA2
Dacryoadenitis DCR003
Dacryocystitis DCR004
Dacryocystocele DCR002
Daentl Towsend Siegel Syndrome DNT019
Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy DND020
Dandy-Walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia DND012
Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant DND021 ADDWOC
Dandy-Walker Malformation with Postaxial Polydactyly DND013
Dandy-Walker Syndrome DND001 DWS
Danon Disease DNN001 DAND
Danubian Endemic Familial Nephropathy DNB001 AAN
Darier-White Disease DRR014 DAR
Dartoic Leiomyoma DRT001
Darwinian Tubercle of Pinna DRW001
Dauwerse-Peters Syndrome DWR002
Davenport Donlan Syndrome DVN001
D-Bifunctional Protein Deficiency DBF001 DBPD
Dcx-Related Disorders DCX001
Ddx3x-Related Intellectual Disability DDX001
Ddx3x-Related Neurodevelopmental Disorder DDX004
De Morsier's Syndrome Information DMR001
De Novo Thrombotic Microangiopathy After Kidney Transplantation DNV002
De Quervain Disease DQR001
De Sanctis-Cacchione Syndrome DSN001 DSC
Deaf1-Associated Disorders DF1001
Deafness and Myopia DFN256 DFNMYP
Deafness Goiter Stippled Epiphyses DFN008
Deafness Hypospadias Metacarpal and Metatarsal Syndrome DFN011
Deafness Mesenteric Diverticula of Small Bowel Neuropathy DFN012
Deafness Mixed with Perilymphatic Gusher, X-Linked DFN013
Deafness Nephritis Anorectal Malformation DFN014
Deafness Peripheral Neuropathy Arterial Disease DFN018
Deafness Progressive Cataract Autosomal Dominant DFN019
Deafness with Anhidrotic Ectodermal Dysplasia DFN342
Deafness X-Linked, Dfn3 DFN022
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 9 DFN136 DFNA9
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 DFN023
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 DFN024
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 23 DFN025
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 24 DFN026
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 DFN027 DFNA3
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 DFN028
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 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 DFN242 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, Retinitis Pigmentosa, and Sperm Abnormalities DFN145
Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy DFN310
Deafness, Conductive, with Malformed External Ear DFN306
Deafness, Conductive, with Ptosis and Skeletal Anomalies DFN309
Deafness, Congenital Heart Defects, and Posterior Embryotoxon DFN191 DCHE
Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy DFN389 DEAPLE
Deafness, Congenital, and Familial Myoclonic Epilepsy DFN343
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia DFN358 LAMM
Deafness, Congenital, with Onychodystrophy, Autosomal Dominant DFN331 DDOD
Deafness, Congenital, with Total Albinism DFN345
Deafness, Congenital, with Vitiligo and Achalasia DFN312
Deafness, Dystonia, and Cerebral Hypomyelination DFN270 DDCH
Deafness, Isolated, Due to Mitochondrial Transmission DFN032
Deafness, Mid-Tone Neural DFN339
Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy DFN305
Deafness, Neural, Congenital Moderate DFN346
Deafness, Neural, with Atypical Atopic Dermatitis DFN347
Deafness, Neurosensory Nonsyndromic Recessive, Dfn DFN033
Deafness, Nonsyndromic Sensorineural, Mitochondrial DFN349 DFNM
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome DFN344 DOORS
Deafness, Progressive, with Stapes Fixation DFN308
Deafness, Sensorineural, Autosomal-Mitochondrial Type DFN348
Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease DFN340
Deafness, Unilateral DFN341
Deafness, Unilateral, with Delayed Endolymphatic Hydrops DFN359
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, X-Linked, Dfn DFN037
Deafness, Y-Linked 1 DFN186 DFNY1
Deafness, Y-Linked 2 DFN372 DFNY2
Deafness-Craniofacial Syndrome DFN311
Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome DFN300
Deafness-Hypogonadism Syndrome DFN313 DHS
Deafness-Infertility Syndrome DFN039 DIS
Deafness-Oligodontia Syndrome DFN307
Deafness-Onychodystrophy Syndrome DFN296
Decubitus Ulcer DCB001
Dedifferentiated Liposarcoma DDF001 DDLS
Deeah Syndrome DHS002 DEEAH
Deep Angioma DPN002
Deep Brain Stimulation for Movement Disorders DPB002
Deep Corneal Vascularisation DPC001
Deep Dermatophytosis DPD001
Deep Keratitis DPK001
Deep Leiomyoma DPL001
Defect in Conserved Oligomeric Golgi Complex DFC008
Defect in V-Atpase DFC009
Defective Apolipoprotein B-100 DFC001
Defective Interfering Particle Induction, Control of DFC006 VDI
Deficiency Anemia DFC004
Deficient Breast Volume or Number DFC007
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
Dehydration Polycythemia DHY001
Delayed Encephalopathy Due to Carbon Monoxide Poisoning DLY009
Delayed Sleep Phase Disorder DLY008 DSPD
Deletion 5q35 DLT013
Delpire-Mcneill Syndrome DLP001 DELMNES
Delta Chain Disease DLT001
Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency DLT004
Delusional Disorder DLS001
Dementia DMN002
Dementia - Subcortical DMN012
Dementia Pugilistica DMN026
Dementia, Lewy Body DMN031 DLB
Dementia/parkinsonism with Non-Alzheimer Amyloid Plaques DMN041
Demodicidosis DMD001
Demyelinating Disease DMY004
Demyelinating Hereditary Motor and Sensory Neuropathy DMY005
Demyelinating Polyneuropathy DMY001
Dendritic Cell Deficiency DND022
Dendritic Cell Thymoma DND003
Dendritic Cell Tumor DND018
Dengue Disease DNG003 DF
Dengue Hemorrhagic Fever DNG002 DHF
Dengue Shock Syndrome DNG001 DSS
Dengue Virus DNG005 DF
Dens Evaginatus DNS009
Dens in Dente and Palatal Invaginations DNS002
Dense Deposit Disease DNS007 DDD
Dense Granule Disease DNS011
Dent Disease 1 DNT020 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
Dentatorubral-Pallidoluysian Atrophy DNT005 DRPLA
Dentin Caries DNT010
Dentin Dysplasia DNT009 DD
Dentin Dysplasia with Sclerotic Bones DNT050
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 Type 2 DNT047 DI-2
Dentinogenesis Imperfecta, Shields Type Iii DNT044 DGI3
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome DNT049
Dentocutaneous Disease with Cataract DNT052
Denture Stomatitis DNT008
Denys-Drash Syndrome DNY001 DDS
Deoxyribose-5-Phosphate Aldolase Deficiency DXY002
Depdc5-Related Epilepsy DPD002
Dependent Personality Disorder DPN001
Depersonalization Disorder DPR002
Depression DPR016 MDD
Der Kaloustian Mcintosh Silver Syndrome DRK001
Dermal Ridges, Nelson Syndrome DRM044
Dermal Ridges, Patternless DRM045
Dermal Ridges-off-the-End DRM046 ROES
Dermal Unilateral Segmental Cavernous Angioma DRM001
Dermatitis DRM006
Dermatitis Herpetiformis DRM007 DH
Dermatitis Herpetiformis, Familial DRM040 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
Dermatocardioskeletal Syndrome Boronne Type DRM018
Dermatofibrosarcoma Protuberans DRM014 DFSP
Dermatoglyphics--Arch on Any Digit DRM047
Dermatoglyphics--Finger Ridge Count DRM048
Dermatoglyphics--Fingerprint Pattern DRM049
Dermatoglyphics--Hypothenar Radial Arch DRM052
Dermatoglyphics--Palmar Triradius D, Absence of DRM051
Dermatographia DRM008
Dermatoleukodystrophy DRM019
Dermatomycosis DRM009
Dermatomyositis DRM010 ADM
Dermatoosteolysis, Kirghizian Type DRM042
Dermatopathia Pigmentosa Reticularis DRM021 DPR
Dermatophytosis DRM011 TINEA
Dermatosis Papulosa Nigra DRM003
Dermis Disorder DRM063
Dermis Elastic Tissue Disorder DRM064
Dermis Tumor DRM012
Dermochondrocorneal Dystrophy DRM043 DCCD
Dermographism, Familial DRM050
Dermoid Cyst of Ovary DRM005
Dermoid Cyst of Skin DRM002
Dermoid Cysts, Familial Frontonasal DRM041
Dermoid or Epidermoid Cyst of the Central Nervous System DRM062
Dermoids of Cornea DRM015 CND
Dermoodontodysplasia DRM023
Dermotrichic Syndrome DRM038
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 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 Epileptic Encephalopathy DVL113
Developmental and Epileptic Encephalopathy 1 DVL033 DEE1
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, with Amelogenesis Imperfecta DVL051 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 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 Anomaly of Metabolic Origin DVL025
Developmental Coordination Disorder DVL001
Developmental Defect of the Eye DVL026
Developmental Delay and Seizures with or Without Movement Abnormalities DVL019 DEDSM
Developmental Delay with or Without Dysmorphic Facies and Autism DVL024 DEDDFA
Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair DVL022 DEDSSH
Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities DVL021 DDVIBA
Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy DVL111 DIGFAN
Developmental Dysplasia of the Hip 1 DVL012 DDH1
Developmental Dysplasia of the Hip 2 DVL011 DDH2
Developmental Dyspraxia DVL005
Devriendt Syndrome DVR003
Dextrocardia DXT001
Dextrocardia with Situs Inversus DXT002
Dextrocardia with Unusual Facies and Microphthalmia DXT003
Dextro-Looped Transposition of the Great Arteries DXT004 TGA
Dextro-Looped Transposition of the Great Arteries 3 DXT005 DTGA3
Dfna2 Nonsyndromic Hearing Loss DFN001
Dfnb1 DFN038 DFNB1
Dfnx1 Nonsyndromic Hearing Loss and Deafness DFN002
D-Glyceric Aciduria DGL002 D-GA
Dhdds-Cdg DHD002
Diabetes and Deafness, Maternally Inherited DBT090 MIDD
Diabetes Insipidus DBT005
Diabetes Insipidus, Nephrogenic, Autosomal DBT091 ANDI
Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification DBT089
Diabetes Insipidus, Nephrogenic, X-Linked DBT092 XNDI
Diabetes Insipidus, Neurohypophyseal DBT087 NDI
Diabetes Mellitus DBT009
Diabetes Mellitus, 6q24-Related Transient Neonatal DBT013
Diabetes Mellitus, Congenital Autoimmune DBT096
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
Diabetes Persistent Mullerian Ducts DBT016
Diabetic Angiopathy DBT008
Diabetic Autonomic Neuropathy DBT002
Diabetic Cataract DBT007
Diabetic Encephalopathy DBT081
Diabetic Macular Edema DBT006
Diabetic Mastopathy DBT018
Diabetic Neuropathy DBT010
Diabetic Polyneuropathy DBT004
Diaminopentanuria DMN042
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 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
Diaphragma Sellae Meningioma DPH002
Diaphragmatic Agenesis Radial Aplasia Omphalocele DPH009
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull DPH023
Diaphragmatic Eventration DPH006
Diaphragmatic Flutter DPH028
Diaphragmatic Hernia 2 DPH025 DIH2
Diaphragmatic Hernia 3 DPH016 DIH3
Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis DPH010
Diaphragmatic Hernia Upper Limb Defects DPH011
Diaphragmatic Hernia, Congenital DPH024 CDH
Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome DPH029
Diaphragmatic or Abdominal Wall Malformation DPH030
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 2, with Microvillus Atrophy DRR016 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
Diarrhea, Chronic, with Villous Atrophy DRR012
Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency DRR015
Diastasis Recti and Weakness of the Linea Alba DST100
Diastema, Dental Medial DST097
Diastematomyelia DST008 SCM
Diastolic Heart Failure DST006
Diastrophic Dysplasia DST005 DTD
Diazoxide-Resistant Diffuse Hyperinsulinism DZX003
Diazoxide-Resistant Focal Hyperinsulinism DZX006
Diazoxide-Resistant Hyperinsulinism DZX005
Diazoxide-Sensitive Diffuse Hyperinsulinism DZX004
Dibasic Amino Aciduria I DBS003
Dic in Newborn DCN001
Dicarboxylic Aminoaciduria DCR008 DCBXA
Dicer1 Tumor Predisposition DCR010
Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome DCR007
Diclofenac Allergy DCL001
Dicrocoeliasis DCR001
Didelphys Uterus DDL001
Didymosis Aplasticosebacea DDY001
Die Smulders Droog Van Dijk Syndrome DSM008
Die Smulders Vles Fryns Syndrome DSM009
Diencephalic Astrocytoma DNC009
Diencephalic Neoplasm DNC002
Diencephalic Syndrome DNC004
Diencephalic-Mesencephalic Junction Dysplasia DNC006
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 DNC007 DMJDS1
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 DNC008 DMJDS2
Dientamoebiasis DNT004
Dieterich's Disease DTR002
Diethylstilbestrol Syndrome DTH005
Diets-Jongmans Syndrome DTS001 DIJOS
Dieulafoy Lesion DLF001
Differentiated Thyroid Carcinoma DFF036
Differentiating Neuroblastoma DFF012
Diffuse Alopecia Areata DFF010
Diffuse Alveolar Hemorrhage DFF031
Diffuse Astrocytoma DFF016
Diffuse Cavernous Hemangioma of the Rectum DFF017
Diffuse Cutaneous Systemic Sclerosis DFF035 DCSSC
Diffuse Dermal Angiomatosis DFF018
Diffuse Gastric Cancer DFF019
Diffuse Glomerulonephritis DFF015
Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia DFF020
Diffuse Idiopathic Skeletal Hyperostosis DFF006 DISH
Diffuse Infiltrative Lymphocytosis Syndrome DFF007
Diffuse Interstitial Keratitis DFF011
Diffuse Large B-Cell Lymphoma DFF005 DLBCL
Diffuse Large B-Cell Lymphoma of the Central Nervous System DFF029
Diffuse Large B-Cell Lymphoma with Chronic Inflammation DFF030
Diffuse Leptomeningeal Melanocytosis DFF028 DLM
Diffuse Lipomatosis DFF009
Diffuse Lymphatic Malformation DFF027 GLA
Diffuse Meningeal Melanocytosis DFF013
Diffuse Mesangial Sclerosis DFF021 DMS
Diffuse Midline Glioma, H3 K27m-Mutant DFF039 DIPG
Diffuse Neonatal Hemangiomatosis DFF022
Diffuse Palmoplantar Keratoderma DFF038
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome DFF032
Diffuse Peritoneal Leiomyomatosis DFF004 DPL
Diffuse Pulmonary Fibrosis DFF002
Diffuse Scleroderma DFF003
Diffuse Secondary Choroid Atrophy DFF008
Digenic Disease DGN006
Digeorge Syndrome DGR001 DGS
Digeorge Syndrome/velocardiofacial Syndrome Complex 2 DGR006 DGS2
Digestive Duplication DGS007
Digestive Duplication Cyst of the Tongue DGS006
Digestive System Melanoma DGS008
Digestive Tract Malformation DGS009
Digital Arthropathy-Brachydactyly, Familial DGT005 FDAB
Digital Clubbing, Isolated Congenital DGT002 DIGC
Digitalis Poisoning DGT004
Digitotalar Dysmorphism DGT009
Dihydrolipoamide Dehydrogenase Deficiency DHY010 DLDD
Dihydropyrimidinase Deficiency DHY011 DPYSD
Dihydropyrimidine Dehydrogenase Deficiency DHY002 DPYDD
Dihydroxyadeninuria DHY008
Dilated Cardiomyopathy DLT002 DCM
Dilated Cardiomyopathy 1t DLT017
Dilution, Pigmentary DLT018
Dimethylglycine Dehydrogenase Deficiency DMT001 DMGDHD
Dimples, Facial DMP002
Dioctophymiasis DCT001
Diomedi Bernardi Placidi Syndrome DMD002
Dipetalonemiasis DPT001
Diphallia DPH012
Diphallus Rachischisis Imperforate Anus DPH013
Diphenylmethane-4,4'-Diisocyanate Allergic Asthma DPH026
Diphenylmethane-4,4'-Diisocyanate Allergic Contact Dermatitis DPH027
Diphtheria DPH001
Diphtheritic Cystitis DPH004
Diphtheritic Peritonitis DPH005
Diphyllobothriasis DPH003
Diplegia of Upper Limb DPL002
Diploid-Triploid Mosaicism DPL003
Diprosopia DPR003
Diprosopus DPR014
Dipsogenic Diabetes Insipidus DPS001
Dirofilariasis DRF001
Discharging Ear DSC001
Discitis DSC004
Discoid Fibromas, Familial Multiple DSC014 FMDF
Discoid Lupus Erythematosus DSC009
Discoid Lupus Erythematosus of Eyelid DSC002
Discrete Fibromuscular Subaortic Stenosis DSC011
Discrete Papular Lichen Myxedematosus DSC010
Discrete Subaortic Stenosis DSC003
Discrimination, Two-Point, Reduction in DSC013
Disease Associated with Non-Acquired Combined Pituitary Hormone Deficiency DSS031
Disease by Infectious Agent DSS032
Disease of Mental Health DSS008
Disease with Diffuse Palmoplantar Keratoderma As a Major Feature DSS028
Disease with Focal Palmoplantar Keratoderma As a Major Feature DSS029
Disease with Punctate Palmoplantar Keratoderma As a Major Feature DSS030
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation DSL004
Dislocation of Ear Ossicle DSL001
Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism DSL002
Disodium Cromoglycate Allergy DSD001
Disorder of Amino Acid Absorption and Transport DSR083
Disorder of Amino Acid and Other Organic Acid Metabolism DSR085
Disorder of Beta and Omega Amino Acid Metabolism DSR050
Disorder of Bile Acid Synthesis DSR081
Disorder of Bilirubin Metabolism and Excretion DSR035
Disorder of Biogenic Amine Metabolism and Transport DSR064
Disorder of Branched-Chain Amino Acid Metabolism DSR078
Disorder of Carbohydrate Absorption and Transport DSR051
Disorder of Carnitine Cycle and Carnitine Transport DSR059
Disorder of Catecholamine Synthesis DSR038
Disorder of Cobalamin Metabolism and Transport DSR080
Disorder of Copper Metabolism DSR031
Disorder of Energy Metabolism DSR072
Disorder of Fatty Acid Oxidation and Ketogenesis DSR053
Disorder of Fatty Acid Oxidation and Ketone Body Metabolism DSR070
Disorder of Folate Metabolism and Transport DSR024
Disorder of Fructose Metabolism DSR056
Disorder of Fucoglycosan Synthesis DSR047
Disorder of Galactose Metabolism DSR055
Disorder of Glutamine Metabolism DSR022
Disorder of Glycerol Metabolism DSR071
Disorder of Glycolysis DSR057
Disorder of Glycosphingolipid and Glycosylphosphatidylinositol Anchor Glycosylation DSR040
Disorder of Glyoxylate Metabolism DSR052
Disorder of Iron Metabolism and Transport DSR030
Disorder of Ketolysis DSR066
Disorder of Keton Body Transport DSR061
Disorder of Lipid Absorption and Transport DSR054
Disorder of Lysine and Hydroxylysine Metabolism DSR021
Disorder of Lysosomal Amino Acid Transport DSR065
Disorder of Lysosomal-Related Organelles DSR044
Disorder of Magnesium Transport DSR028
Disorder of Manganese Transport DSR032
Disorder of Melanin Metabolism DSR014
Disorder of Metabolite Absorption and Transport DSR033
Disorder of Methionine Cycle and Sulfur Amino Acid Metabolism DSR079
Disorder of Mineral Absorption and Transport DSR036
Disorder of Multiple Glycosylation DSR041
Disorder of Neurotransmitter Metabolism and Transport DSR082
Disorder of O-Mannosylglycan Synthesis DSR046
Disorder of O-N-Acetylgalactosaminylglycan Synthesis DSR048
Disorder of Ornithine Metabolism DSR020
Disorder of Ornithine or Proline Metabolism DSR067
Disorder of Other Vitamins and Cofactors Metabolism and Transport DSR037
Disorder of O-Xylosyl/n-Acetylgalactosaminylglycan Synthesis DSR049
Disorder of O-Xylosylglycan Synthesis DSR043
Disorder of Pentose Phosphate Metabolism DSR069
Disorder of Peptide Metabolism DSR068
Disorder of Peroxisomal Alpha-, Beta- and Omega-Oxidation DSR009
Disorder of Phenylalanin or Tyrosine Metabolism DSR073
Disorder of Phenylalanine Metabolism DSR025
Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis DSR015
Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Central Nervous System Predominant Involvement DSR018
Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Peripheral Nerves Predominant Involvement DSR017
Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Skeletal Muscle Predominant Involvement DSR016
Disorder of Plasmalogens Biosynthesis DSR063
Disorder of Proline Metabolism DSR019
Disorder of Protein N-Glycosylation DSR045
Disorder of Protein O-Glycosylation DSR042
Disorder of Pterin Metabolism DSR034
Disorder of Purine Metabolism DSR074
Disorder of Pyridoxine Metabolism DSR075
Disorder of Serine or Glycine Metabolism DSR076
Disorder of Sexual Development DSR090 DSD
Disorder of Sialic Acid Metabolism DSR058
Disorder of the Gamma-Glutamyl Cycle DSR077
Disorder of Thiamine Metabolism and Transport DSR060
Disorder of Tryptophan Metabolism DSR023
Disorder of Tyrosine Metabolism DSR026
Disorder of Urea Cycle Metabolism and Ammonia Detoxification DSR084
Disorder of Vitamin and Non-Protein Cofactor Absorption and Transport DSR039
Disorder of Zinc Metabolism and Transport DSR029
Disorder with Multisystemic Involvement and Glomerulopathy DSR087
Disorder with Multisystemic Involvement and Primary Lymphedema DSR088
Disorder with Optic Nerve Compression DSR086
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency DSR012 DISPORD
Disorders of Gnas Inactivation DSR013
Disorders of Intracellular Cobalamin Metabolism DSR002
Disorders of Pentose/polyol Metabolism DSR062
Disorders of Vitamin D Metabolism DSR027
Disorders with Deficiency of a Single Peroxisomal Enzyme DSR010
Disorganization, Mouse, Homolog of DSR011 DS
Displacement of Cardia Through Esophageal Hiatus DSP001
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions DSP003
Disseminated Chorioretinitis DSS001
Disseminated Eosinophilic Collagen Disease DSS003
Disseminated Infection with Mycobacterium Avium Complex DSS012 DMAC
Disseminated Intravascular Coagulation DSS009 DIC
Disseminated Sclerosis with Narcolepsy DSS026
Dissociated Nystagmus DSS005
Dissociative Amnesia DSS002
Dissociative Disorder DSS010
Dissociative Seizures DSS025 PNES
Distal 17p13.3 Microdeletion Syndrome DST054
Distal 22q11.2 Microduplication Syndrome DST055
Distal 7q11.23 Microduplication Syndrome DST052
Distal Arthrogryposis DST002 AMC
Distal Arthrogryposis with Hypopituitarism, Intellectual Disability and Facial Anomalies DST096
Distal Biliary Tract Carcinoma DST001
Distal Chromosome 18q Deletion Syndrome DST011
Distal Hereditary Motor Neuronopathy Type 2 DST106 HMN2
Distal Hereditary Motor Neuronopathy Type 7 DST105 DHMN7
Distal Hereditary Motor Neuropathies DST101
Distal Hereditary Motor Neuropathy Type 7 DST092 DHMN7
Distal Monosomy 12p DST058
Distal Monosomy 12q DST069
Distal Monosomy 14q DST067
Distal Monosomy 19p13.3 DST071
Distal Monosomy 20q DST066
Distal Monosomy 4q DST070
Distal Monosomy 7p DST073
Distal Monosomy 7q36 DST038
Distal Monosomy 9p DST037
Distal Muscular Dystrophy Tateyama Type DST104
Distal Muscular Dystrophy with Anterior Tibial Onset DST103 DMAT
Distal Myopathy with Vocal Cord Weakness DST013 MPD2
Distal Nebulin Myopathy DST102
Distal Osteosclerosis DST098
Distal Primary Acidosis, Familial DST014
Distal Renal Tubular Acidosis DST107 DRTA
Distal Renal Tubular Acidosis with Hemolytic Anemia DST108
Distal Trisomy 10q DST082
Distal Trisomy 11q DST081
Distal Trisomy 13q DST076
Distal Trisomy 14q DST044
Distal Trisomy 15q DST036
Distal Trisomy 16q DST075
Distal Trisomy 17q DST059
Distal Trisomy 18q DST035
Distal Trisomy 19q DST057
Distal Trisomy 1p36 DST088
Distal Trisomy 20q DST074
Distal Trisomy 22q DST077
Distal Trisomy 2p DST090
Distal Trisomy 2q DST085
Distal Trisomy 3p DST089
Distal Trisomy 5q DST079
Distal Trisomy 6p DST045
Distal Trisomy 6q DST078
Distal Trisomy 7p DST087
Distal Trisomy 8q DST084
Distal Trisomy 9q DST083
Distichiasis DST033
Distichiasis Heart Congenital Anomalies DST015
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature DST099
Distomatosis DST016
Disuse Amblyopia DSS006
Diversion Colitis DVR006
Diverticulitis DVR002
Diverticulitis of Colon DVR001
Diverticulosis of Bowel, Hernia, and Retinal Detachment DVR007
Diverticulosis, Small-Intestinal DVR008
Dk Phocomelia Syndrome DKP001
D-Lactic Aciduria with Gout DLC002 DLACD
D-Mannitol Allergy DMN046
D-Minus Hemolytic Uremic Syndrome DMN007
Dna Repair Defect Other Than Combined T-Cell and B-Cell Immunodeficiencies DNR008
Dna, Low-Repetitive Sequences of DNL003
Dna, Satellite, Alpha Type DNS010
Dna, Satellite, Iii DNS008 HS3
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 DNJ004
Dnmt1-Related Disorder DNM005
Dnmt3a Overgrowth Syndrome DNM004 TBRS
Dobrow Syndrome DBR003
Dock8 Immunodeficiency Syndrome DCK002
Dohle Bodies and Leukemia DHL002
Dominant Cleft Palate DMN008
Dominant Dystrophic Epidermolysis Bullosa, Nails Only DMN044
Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis DMN034
Donnai-Barrow Syndrome DNN002 DBS
Donohue Syndrome DNH001 LEPRCH
Donson-Related Microcephaly-Short Stature-Limb Abnormalities Spectrum DNS012
Dopamine Beta-Hydroxylase Deficiency DPM001
Dopamine Beta-Hydroxylase, Plasma, Thermolability of DPM008
Double Discordia DBL004
Double Fingernail of Fifth Finger DBL005
Double Inferior Vena Cava DBL009
Double Nail for Fifth Toe DBL019
Double Nails on the Fifth Toe DBL006
Double Outlet Left Ventricle DBL007 DOLV
Double Outlet Right Atrium DBL015
Double Outlet Right Ventricle DBL002
Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy DBL016
Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect DBL013
Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect DBL020
Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis DBL018
Double Pterygium DBL001
Double Uterus-Hemivagina-Renal Agenesis DBL008
Double-Orifice Mitral Valve DBL010
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
Doxorubicin Induced Cardiomyopathy DXR001
Doyne Honeycomb Retinal Dystrophy DYN002 DHRD
D-Plus Hemolytic Uremic Syndrome DPL004
Drachtman Weinblatt Sitarz Syndrome DRC003
Dracunculiasis DRC001 GWD
Dravet Syndrome DRV001 DRVT
Dressler's Syndrome DRS001
Drug Allergy DRG024
Drug Dependence DRG003
Drug Induced Dyskinesia DRG016
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 Radiation Exposure-Related Interstitial Lung Disease DRG018
Drug- or Toxin-Induced Pulmonary Arterial Hypertension DRG027
Drug Psychosis DRG001
Drug Reaction with Eosinophilia and Systemic Symptoms DRG026
Drug-Induced Autoimmune Hemolytic Anemia DRG014
Drug-Induced Hearing Loss DRG025
Drug-Induced Hepatitis DRG002
Drug-Induced Lupus Erythematosus DRG013 DIL
Drug-Induced Mental Disorder DRG004
Drug-Induced Vasculitis DRG017
Drug-Related Renal Tubular Dysgenesis DRG019
Dry Beriberi DRY002
Dry Eye Syndrome DRY001
Du Pan Syndrome DPN005 DUPANS
Duane Anomaly-Myopathy-Scoliosis Syndrome DNN007
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
Duarte Variant Galactosemia DRT002
Dubin-Johnson Syndrome DBN001 DJS
Dubowitz Syndrome DBW001
Ductal Carcinoma in Situ DCT002
Duker Weiss Siber Syndrome DKR001
Dumping Syndrome DMP001
Duodenal Atresia DDN011
Duodenal Atresia Tetralogy of Fallot DDN012
Duodenal Benign Neoplasm DDN023
Duodenal Gastrinoma DDN002
Duodenal Neuroendocrine Tumor DDN028
Duodenal Obstruction DDN009
Duodenal Somatostatinoma DDN005
Duodenal Ulcer DDN001
Duodenal Ulcer Due to Antral G-Cell Hyperfunction DDN013
Duodenal Ulcer, Hyperpepsinogenemic I DDN025
Duodenitis DDN006
Duodenogastric Reflux DDN004
Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery, and Absent Superior Mesenteric Artery DDN026
Duodenum Adenocarcinoma DDN003
Duodenum Adenoma DDN022
Duodenum Cancer DDN010
Duodenum Disease DDN027
Duplication of Leg Mirror Foot DPL005
Duplication of the Esophagus DPL010
Duplication of the Pituitary Gland DPL009
Duplication of the Thumb Unilateral Biphalangeal DPL006
Duplication of Urethra DPL007
Dupont Sellier Chochillon Syndrome DPN003
Dupuytren Contracture DPY001
Dural Sinus Malformation DRL001
Dwarfism DWR001
Dwarfism Bluish Sclerae DWR003
Dwarfism Deafness Retinitis Pigmentosa DWR004
Dwarfism Lethal Type Advanced Bone Age DWR006
Dwarfism Thin Bones Multiple Fractures DWR010
Dwarfism with Stiff Joints and Ocular Abnormalities DWR019
Dwarfism with Tall Vertebrae DWR017
Dwarfism, Familial, with Muscle Spasms DWR023
Dwarfism, Levi Type DWR018
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone DWR020
Dwarfism, Mental Retardation, and Eye Abnormality DWR021
Dwarfism, Proportionate, with Hip Dislocation DWR022
Dyggve-Melchior-Clausen Disease DYG001 DMC
Dyggve-Melchior-Clausen Syndrome, X-Linked DYG003
Dyrk1a-Related Intellectual Disability Syndrome DYR001
Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion DYR002
Dysautonomia DYS021
Dysautonomia-Like Disorder DYS194
Dysbaric Osteonecrosis DYS013 DON
Dyscalculia DYS004
Dyschondrosteosis and Nephritis DYS180
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
Dyserythropoiesis, Congenital, with Ultrastructurally Normal Erythroblast Heterochromatin DYS197
Dyserythropoietic Anemia and Thrombocytopenia DYS127
Dysferlinopathy DYS030
Dysfibrinogenemia, Congenital DYS165 DYSFIBRIN
Dysgammaglobulinemia DYS016
Dysgerminoma DYS101
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 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, X-Linked DYS164 DKCX
Dyskeratosis, Hereditary Benign Intraepithelial DYS096 HBID
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 DYX3
Dyslexia 5 DYS123 DYX5
Dyslexia 6 DYS124 DYX6
Dyslexia 8 DYS125 DYX8
Dyslexia 9 DYS126 DYX9
Dysmorphism Cleft Palate Loose Skin DYS044
Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome DYS177
Dysmyelination with Jaundice DYS195
Dysosteosclerosis DYS045
Dysostosis DYS018
Dysostosis of Genetic Origin DYS205
Dysostosis of Genetic Origin with Limb Anomaly As a Major Feature DYS204
Dysostosis with Brachydactyly DYS208
Dysostosis with Brachydactyly with Extraskeletal Manifestations DYS206
Dysostosis with Brachydactyly Without Extraskeletal Manifestations DYS207
Dysostosis with Combined Reduction Defects of Upper and Lower Limbs DYS203
Dysostosis with Limb and Face Anomalies As a Major Feature DYS201
Dysostosis with Limb Anomaly As a Major Feature DYS202
Dysostosis with Predominant Craniofacial Involvement DYS210
Dysostosis with Predominant Vertebral and Costal Involvement DYS209
Dysphagia DYS073
Dysphagia Lusoria DYS135
Dysphasia, Familial Developmental DYS182
Dysplasia Epiphysealis Hemimelica DYS048
Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas DYS183
Dysplasia of Head of Femur, Meyer Type DYS128
Dysplastic Cortical Hyperostosis DYS049
Dysplastic Nevus Syndrome DYS002
Dyssegmental Dysplasia with Glaucoma DYS181
Dyssegmental Dysplasia, Rolland-Desbuquois Type DYS179 DDRD
Dyssegmental Dysplasia, Silverman-Handmaker Type DYS160 DDSH
Dysspondyloenchondromatosis DYS134
Dystelephalangy DYS053
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, Childhood-Onset DYS190 DYT28
Dystonia 3, Torsion, X-Linked DYS064 DYT3
Dystonia 4, Torsion, Autosomal Dominant DYS163 DYT4
Dystonia 6, Torsion DYS067 DYT6
Dystonia 7, Torsion DYS068 DYT7
Dystonia 9 DYS119 DYT9
Dystonia with Cerebellar Atrophy DYS199 DYTCA
Dystonia with Ringbinden DYS196
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, Focal, Task-Specific DYS198 FTSD
Dystonia, Juvenile-Onset DYS162 DJO
Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease DYS031
Dystonia-Aphonia Syndrome DYS158
Dystrophies Primarily Involving the Retinal Pigment Epithelium DYS010
Dystrophinopathies DYS032
Dyt1 Early-Onset Isolated Dystonia DYT002
Dyt-Gnal DYT003 DYT25
Dyt-Thap1 DYT005 DYT6
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