Disease Name Symbol Acronym
D-2-hydrosyglutaric Aciduria 2 D2H004
D-2-hydroxyglutaric Aciduria D2H001
D-bifunctional Protein Deficiency DBF001
Dacryoadenitis DCR003
Dacryocystitis DCR004
Dacryocystocele DCR002
Dandy-walker Complex DND005
Dandy-walker Malformation DND004
Dandy-walker Syndrome DND001
Danon Disease DNN001
Darsun Syndrome DRS002
Dcx-related Disorders DCX001
De Barsy Syndrome DBR002
De Sanctis-cacchione Syndrome DSN001
Deafness and Male Infertility DFN187
Deafness with Labyrinthine Aplasia Microtia and Microdontia (lamm) DFN021
Deafness-infertility Syndrome DFN039 DIS
Deafness, Autosomal Dominant 1 DFN131
Deafness, Autosomal Dominant 10 DFN107
Deafness, Autosomal Dominant 11, Neurosensory DFN205
Deafness, Autosomal Dominant 13 DFN137
Deafness, Autosomal Dominant 15 DFN117
Deafness, Autosomal Dominant 16 DFN148
Deafness, Autosomal Dominant 17 DFN200
Deafness, Autosomal Dominant 18 DFN149
Deafness, Autosomal Dominant 20/26 DFN113
Deafness, Autosomal Dominant 21 DFN150
Deafness, Autosomal Dominant 22 DFN196
Deafness, Autosomal Dominant 22, with Hypertrophic Cardiomyopathy DFN198
Deafness, Autosomal Dominant 23 DFN192
Deafness, Autosomal Dominant 24 DFN151
Deafness, Autosomal Dominant 25 DFN189
Deafness, Autosomal Dominant 27 DFN152
Deafness, Autosomal Dominant 28 DFN094
Deafness, Autosomal Dominant 2a DFN190
Deafness, Autosomal Dominant 2b DFN099
Deafness, Autosomal Dominant 30 DFN153
Deafness, Autosomal Dominant 31 DFN154
Deafness, Autosomal Dominant 36 DFN128
Deafness, Autosomal Dominant 36, with Dentinogenesis DFN144
Deafness, Autosomal Dominant 3a DFN098
Deafness, Autosomal Dominant 3b DFN102
Deafness, Autosomal Dominant 40 DFN134
Deafness, Autosomal Dominant 41 DFN155
Deafness, Autosomal Dominant 43 DFN156
Deafness, Autosomal Dominant 44 DFN118
Deafness, Autosomal Dominant 47 DFN157
Deafness, Autosomal Dominant 48 DFN202
Deafness, Autosomal Dominant 49 DFN158
Deafness, Autosomal Dominant 5 DFN159
Deafness, Autosomal Dominant 50 DFN119
Deafness, Autosomal Dominant 52 DFN160
Deafness, Autosomal Dominant 53 DFN161
Deafness, Autosomal Dominant 59 DFN162
Deafness, Autosomal Dominant 6/14/38 DFN193
Deafness, Autosomal Dominant 7 DFN163
Deafness, Autosomal Dominant 8/12 DFN129
Deafness, Autosomal Dominant 9 DFN136
Deafness, Autosomal Dominant, with Peripheral Neuropathy DFN100
Deafness, Autosomal Recessive 10, Congenital DFN126
Deafness, Autosomal Recessive 12 DFN141
Deafness, Autosomal Recessive 12, Modifier of DFN106
Deafness, Autosomal Recessive 13 DFN164
Deafness, Autosomal Recessive 14 DFN165
Deafness, Autosomal Recessive 16 DFN143
Deafness, Autosomal Recessive 17 DFN166
Deafness, Autosomal Recessive 18 DFN195
Deafness, Autosomal Recessive 1a DFN097
Deafness, Autosomal Recessive 1b DFN103
Deafness, Autosomal Recessive 2, Neurosensory DFN204
Deafness, Autosomal Recessive 20 DFN167
Deafness, Autosomal Recessive 21 DFN130
Deafness, Autosomal Recessive 22 DFN132
Deafness, Autosomal Recessive 23 DFN093
Deafness, Autosomal Recessive 25 DFN095
Deafness, Autosomal Recessive 26 DFN168
Deafness, Autosomal Recessive 27 DFN169
Deafness, Autosomal Recessive 28 DFN121
Deafness, Autosomal Recessive 29 DFN139
Deafness, Autosomal Recessive 3 DFN201
Deafness, Autosomal Recessive 30 DFN203
Deafness, Autosomal Recessive 31 DFN170
Deafness, Autosomal Recessive 33 DFN171
Deafness, Autosomal Recessive 35 DFN111
Deafness, Autosomal Recessive 36 DFN109
Deafness, Autosomal Recessive 37 DFN197
Deafness, Autosomal Recessive 38 DFN172
Deafness, Autosomal Recessive 39 DFN120
Deafness, Autosomal Recessive 40 DFN173
Deafness, Autosomal Recessive 44 DFN174
Deafness, Autosomal Recessive 45 DFN175
Deafness, Autosomal Recessive 49 DFN092
Deafness, Autosomal Recessive 5 DFN177
Deafness, Autosomal Recessive 51 DFN029
Deafness, Autosomal Recessive 53 DFN138
Deafness, Autosomal Recessive 55 DFN030
Deafness, Autosomal Recessive 59 DFN178
Deafness, Autosomal Recessive 6 DFN124
Deafness, Autosomal Recessive 61 DFN188
Deafness, Autosomal Recessive 62 DFN179
Deafness, Autosomal Recessive 63 DFN112
Deafness, Autosomal Recessive 65 DFN180
Deafness, Autosomal Recessive 66 DFN181
Deafness, Autosomal Recessive 67 DFN114
Deafness, Autosomal Recessive 7 DFN127
Deafness, Autosomal Recessive 71 DFN182
Deafness, Autosomal Recessive 74 DFN116
Deafness, Autosomal Recessive 77 DFN108
Deafness, Autosomal Recessive 79 DFN123
Deafness, Autosomal Recessive 8, Childhood Onset DFN125
Deafness, Autosomal Recessive 82 DFN096
Deafness, Autosomal Recessive 83 DFN183
Deafness, Autosomal Recessive 84 DFN140
Deafness, Autosomal Recessive 85 DFN184
Deafness, Autosomal Recessive 9 DFN133
Deafness, Autosomal Recessive 91 DFN135
Deafness, Autosomal Recessive, 24 DFN115
Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities DFN145
Deafness, Congenital Heart Defects, and Posterior Embryotoxon DFN191
Deafness, Mitochondrial, Modifier of DFN122
Deafness, Neurosensory, Autosomal Recessive 46 DFN176
Deafness, Neurosensory, Autosomal Recessive 47 DFN034
Deafness, Neurosensory, Without Vestibular Involvement, Autosomal Dominant DFN110
Deafness, Nonsyndromic, Modifier 1 DFN185
Deafness, X-linked 1 DFN194
Deafness, X-linked 1, Progressive DFN142
Deafness, X-linked 2 DFN036 DFN3
Deafness, X-linked 3 DFN146
Deafness, X-linked 4 DFN147
Deafness, X-linked 5 DFN105
Deafness, Y-linked 1 DFN186
Debrisoquine Sensitivity DBR001
Decr Deficiency DCR005
Decubitus Ulcer DCB001
Deep Brain Stimulation for Parkinson's Disease DPB001
Deep Vein Thrombosis DPV001
Defective Apolipoprotein B-100 DFC001
Deficiency of Interleukin-1 Receptor Antagonist DFC002 DIRA
Degenerative Disc Disease DGN001
Degenerative Myopia DGN002
Degos Disease DGS001
Dehydrated Hereditary Stomatocytosis DHY004
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema DHY006
Dejerine-sottas Neuropathy, Autosomal Recessive DJR002
Delayed Puberty DLY004
Delayed Sleep Phase Syndrome DLY005
Delusional Disorder DLS001
Dementia DMN002
Dementia - Subcortical DMN012
Dementia Familial British DMN003 FBD
Dementia, Early-onset Progressive, Autosomal Recessive DMN015
Dementia, Familial Danish DMN004 FDD
Dementia, Familial, Nonspecific DMN016
Dementia, Frontotemporal, with or Without Parkinsonism DMN013
Demyelinating Polyneuropathy DMY001
Dendritic Cell Sarcoma DND002
Dendritic Cell Thymoma DND003
Dengue Disease DNG003
Dengue Fever, Protection Against DNG004
Dengue Hemorrhagic Fever DNG002
Dengue Shock Syndrome DNG001 DSS
Dent Disease DNT015
Dent Disease 1 DNT020 NPHL2
Dent Disease 2 DNT021
Dental Anomalies, Isolated DNT032
Dental Caries DNT012
Dental Enamel Hypoplasia DNT013
Dental Fluorosis DNT001
Dental Pulp Calcification DNT003
Dental Pulp Necrosis DNT006
Dentatorubral-pallidoluysian Atrophy DNT005 NOD
Dentatorubro-pallidoluysian Atrophy DNT016
Dentin Caries DNT010
Dentin Dysplasia DNT009
Dentin Dysplasia, Type Ii DNT027 DTDP2
Dentin Sensitivity DNT007
Dentine Erosion DNT002
Dentinogenesis Imperfecta DNT011 DGI
Dentinogenesis Imperfecta 1 DNT025 DGI1
Dentinogenesis Imperfecta Shields Type 3 DNT026
Denture Stomatitis DNT008
Denys-drash Syndrome DNY001
Dependent Personality Disorder DPN001
Dermatitis DRM006
Dermatitis Herpetiformis DRM007
Dermatitis, Atopic 3 DRM033
Dermatitis, Atopic 5 DRM034
Dermatitis, Atopic 6 DRM032
Dermatofibrosarcoma DRM004
Dermatofibrosarcoma Protuberans DRM014 DFSP
Dermatographia DRM008
Dermatomycosis DRM009
Dermatomyositis DRM010
Dermatopathia Pigmentosa Reticularis DRM021 DPR
Dermatophytosis DRM011
Dermatosis Papulosa Nigra DRM003
Dermoid Cyst DRM013
Dermoid Cyst of Ovary DRM005
Dermoids of Cornea DRM015 CND
Desmoid Disease DSM001
Desmoid Disease, Hereditary DSM003 FIF
Desmoid Tumor DSM004
Desmoplastic Infantile Ganglioglioma DSM006 DIG
Desmoplastic Medulloblastoma DSM012
Desmoplastic Melanoma DSM011
Desmoplastic Small Round Cell Tumor DSM007 DSRCT
Desmosterolosis DSM002
Desquamative Interstitial Pneumonia DSQ001
Detrusor Sphincter Dyssynergia DTR001
Developmental Disabilities DVL002
Developmental Dysplasia of Hip DVL004
Devic Disease DVC001 NMO
Dextrocardia DXT001
Dfna 3 Nonsyndromic Hearing Loss and Deafness DFN042
Dfnb 1 Nonsyndromic Hearing Loss and Deafness DFN063
Dfnb1 DFN038 DFNB1
Dguok-related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form DGK001
Diabetes and Pancreatic Exocrine Dysfunction DBT012
Diabetes Insipidus DBT005
Diabetes Mellitus DBT009
Diabetes Mellitus, Insulin-dependent, 11 DBT048
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, 2 DBT040
Diabetes Mellitus, Insulin-dependent, 20 DBT034
Diabetes Mellitus, Insulin-dependent, 22 DBT032
Diabetes Mellitus, Insulin-dependent, 23 DBT053
Diabetes Mellitus, Insulin-dependent, 24 DBT054
Diabetes Mellitus, Insulin-dependent, 3 DBT055
Diabetes Mellitus, Insulin-dependent, 4 DBT056
Diabetes Mellitus, Insulin-dependent, 5 DBT038
Diabetes Mellitus, Insulin-dependent, 6 DBT057
Diabetes Mellitus, Insulin-dependent, 7 DBT058
Diabetes Mellitus, Insulin-dependent, 8 DBT059
Diabetes Mellitus, Insulin-dependent, Neonatal DBT027
Diabetes Mellitus, Insulin-dependent, X-linked DBT060
Diabetes Mellitus, Insulin-resistant, with Acanthosis Nigricans DBT020
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism DBT022
Diabetes Mellitus, Noninsulin-dependent DBT026
Diabetes Mellitus, Noninsulin-dependent 1 DBT035
Diabetes Mellitus, Noninsulin-dependent, 2 DBT033
Diabetes Mellitus, Noninsulin-dependent, Association with DBT047
Diabetes Mellitus, Noninsulin-dependent, Late Onset DBT029
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis DBT024
Diabetes Mellitus, Permanent Neonatal, with Neurologic Features DBT043
Diabetes Mellitus, Transient Neonatal, 3 DBT044
Diabetes, Permanent Neonatal DBT042
Diabetes, Type 1 DBT073
Diabetes, Type 2 DBT031
Diabetic Angiopathy DBT008
Diabetic Autonomic Neuropathy DBT002
Diabetic Cataract DBT007
Diabetic Foot Ulcers DBT062
Diabetic Ketoacidosis DBT001
Diabetic Macular Edema DBT006
Diabetic Neuropathy DBT010
Diabetic Polyneuropathy DBT004
Diabetic Retinopathy DBT011
Diamond-blackfan Anemia DMN001
Diamond-blackfan Anemia 2 DMN005 DBA2
Diaper Rash DPR001
Diaphanospondylodysostosis DPH019
Diaphragmatic Eventration DPH006
Diaphragmatic Hernia 3 DPH016
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma DPH007 BDMF
Diarrhea DRR001
Diarrhea 3, Secretory Sodium, Congenital, Syndromic DRR004
Diarrhea 4, Malabsorptive, Congenital DRR005
Diarrhea 5, with Tufting Enteropathy, Congenital DRR003
Diastematomyelia DST008
Diastolic Heart Failure DST006
Diastrophic Dysplasia DST005 DD
Diastrophic Dysplasia, Broad Bone-platyspondylic Variant DST028
Dicarboxylicaminoaciduria DCR006
Diencephalic Neoplasm DNC002
Diencephalic Syndrome DNC004
Dientamoebiasis DNT004
Dieulafoy Lesion DLF001
Differentiating Neuroblastoma DFF012
Diffuse Astrocytoma DFF016
Diffuse Cutaneous Mastocytosis DFF001
Diffuse Gastric Cancer DFF019
Diffuse Glomerulonephritis DFF015
Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia DFF020
Diffuse Idiopathic Skeletal Hyperostosis DFF006 DISH
Diffuse Large B-cell Lymphoma DFF005
Diffuse Mesangial Sclerosis DFF021 DMS
Diffuse Panbronchiolitis DFF024 PBLT
Diffuse Pulmonary Fibrosis DFF002
Diffuse Scleroderma DFF003 DCSSC
Digeorge Syndrome DGR001 DGS
Digeorge Syndrome/velocardiofacial Syndrome Complex DGR002
Digeorge Syndrome/velocardiofacial Syndrome Complex-2 DGR005
Digestive Diseases DGS003
Dihydropteridine Reductase Deficiency DHY007
Dihydropyrimidinase Deficiency DHY011
Dihydropyrimidine Dehydrogenase Deficiency DHY002
Dihydropyrimidinuria DHY005
Dihydroxyadeninuria DHY008
Dilated Cardiomyopathy DLT002 DCM
Dilated Cardiomyopathy with Woolly Hair and Keratoderma DLT003
Dimethylglycine Dehydrogenase Deficiency DMT001
Diphenylhydantoin Toxicity DPH008
Diphtheria DPH001
Diphyllobothriasis DPH003
Dirofilariasis DRF001
Discharging Ear DSC001
Discitis DSC004
Discrete Subaortic Stenosis DSC003
Disordered Steroidogenesis DSR001
Disorders of Intracellular Cobalamin Metabolism DSR002
Disorders of Sex Development DSR004
Dissecting Aortic Aneurysm DSS004
Dissecting Cellulitis of the Scalp DSS011
Disseminated Intravascular Coagulation DSS009 DIC
Dissociative Amnesia DSS002
Distal Arthrogryposis DST002
Distal Hereditary Motor Neuronopathy Type Viib DST018
Distal Hereditary Motor Neuropathy DST003
Distal Hereditary Motor Neuropathy Type V DST022 DSMAV
Distal Hereditary Motor Neuropathy, Type Ii DST027
Distal Muscular Dystrophy DST004
Distal Spinal Muscular Atrophy, Type V DST007 DSMAV
Disuse Ambylopia DSS014
Diverticulitis DVR002
Dna Ligase I Deficiency DNL002
Dna Ligase Iv Deficiency DNL001
Dna Topoisomerase I DNT017
Dna Topoisomerase I, Camptothecin-resistant DNT030
Dna Topoisomerase Ii DNT018
Dna Topoisomerase Ii, Resistance to Inhibition of, by Amsacrine DNT031
Dominant Cleft Palate DMN008
Dominant Dystrophic Epidermolysis Bullosa DMN011 DDEB
Dominant Ichthyosis Vulgaris DMN009
Donnai-barrow Syndrome DNN002 DBS
Donohue Syndrome DNH001
Dopa-responsive Dystonia DPR006 DRD
Dopamine Beta-hydroxylase Deficiency DPM001 DBH
Dopamine-beta-hydroxylase Activity Levels, Plasma DPM005
Dosage-sensitive Sex Reversal DSG001 DSS
Double Outlet Right Ventricle DBL002
Dowling-degos Disease DWL001 DDD
Down Syndrome DWN001
Down Syndrome Critical Region DWN002
Doxorubicin Induced Cardiomyopathy DXR001
Doyne Honeycomb Degeneration of Retina DYN001
Doyne Honeycomb Retinal Dystrophy DYN002 DHD
Dracunculiasis DRC001
Dravet Syndrome DRV001 SME
Drug Addiction DRG011
Drug Dependence DRG003
Drug Psychosis DRG001
Drug-induced Hepatitis DRG002
Drug-induced Liver Injury Due to Flucloxacillin DRG006
Dry Eye Syndrome DRY001
Duane Retraction Syndrome DNR001 DRS
Duane-radial Ray Syndrome DNR002 DRRS
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 Adenocarcinoma DDN003
Duodenum Cancer DDN010
Dupuytren Contracture DPY001
Dupuytren Contracture 1 DPY003
Dwarfism DWR001
Dyggve-melchior-clausen Disease DYG001
Dysalbuminemic Hyperthyroxinemia DYS070
Dysalbuminemic Hyperzincemia DYS076
Dysautonomia DYS021
Dyscalculia DYS004
Dyschromatosis Symmetrica Hereditaria DYS022
Dyschromatosis Universalis Hereditaria DYS023 DUH
Dyschromatosis Universalis Hereditaria 1 DYS090
Dyschromatosis Universalis Hereditaria 2 DYS091
Dysembryoplastic Neuroepithelial Tumor DYS006
Dysentery DYS015
Dysequilibrium Syndrome DYS036
Dyserythropoietic Anemia DYS025
Dyserythropoietic Anemia with Thrombocytopenia DYS024
Dysferlinopathy DYS030
Dysfibrinogenemia DYS026
Dysfibrinogenemia, Alpha Type, Causing Bleeding Diathesis DYS077
Dysfibrinogenemia, Alpha Type, Causing Recurrent Thrombosis DYS078
Dysfibrinogenemia, Beta Type DYS079
Dysfibrinogenemia, Gamma Type DYS080
Dysgammaglobulinemia DYS016
Dysgerminoma DYS101
Dysgerminoma of Ovary DYS017
Dysgraphia DYS003
Dyshidrosis DYS012
Dyshormonogenic Goiter DYS008
Dyskeratosis DYS027
Dyskeratosis Congenita DYS007 DKC
Dyskeratosis Congenita Autosomal Dominant DYS039 DKCA
Dyskeratosis Congenita Autosomal Recessive DYS040 DKCB
Dyskeratosis Congenita X-linked DYS041 DKCX
Dyskeratosis Congenita-1 DYS097
Dyskinesia of Esophagus DYS011
Dyskinetic Cerebral Palsy DYS001
Dyslexia DYS005
Dysostosis DYS018
Dyspepsia DYS014
Dysphagia DYS073
Dysplasia Epiphysealis Hemimelica DYS048
Dysplasia of Cervix DYS102
Dysplastic Nevus Syndrome DYS002
Dysprothrombinemia DYS028
Dyssegmental Dysplasia DYS029
Dyssegmental Dysplasia Silverman-handmaker Type DYS052 DDSH
Dysthymic Disorder DYS009
Dystonia 1 DYS054 DYT1
Dystonia 10 DYS055 PKC
Dystonia 12 DYS056 RDP
Dystonia 13 DYS057 DYT13
Dystonia 15, Myoclonic DYS058 DYT15
Dystonia 16 DYS059 DYT16
Dystonia 17 DYS060 DYT17
Dystonia 18 DYS061 PED
Dystonia 2, Torsion, Autosomal Recessive DYS063 DYT2
Dystonia 6 DYS071 DYT6
Dystonia 6, Torsion DYS067 DYT6
Dystonia 7 DYS072
Dystonia 7, Torsion DYS068 DYT7
Dystonia Musculorum Deformans DYS019
Dystonia-1, Modifier of DYS095
Dystonia-11, Myoclonic DYS098
Dystonia-17, Primary Torsion DYS082
Dystonia, Dopa-responsive, with or Without Hyperphenylalainemia DYS075
Dystonia, Early-onset Atypical, with Myoclonic Features DYS094
Dystonia, Primary Cervical DYS092
Dystransthyretinemic Hyperthyroxinemia DYS093
Dystrophinopathies DYS032