Disease Name Symbol Acronym
D Ercole Syndrome DRC002
D-2-Hydroxyglutaric Aciduria 1 D2H002
D-2-Hydroxyglutaric Aciduria 2 D2H003
D-Bifunctional Protein Deficiency DBF001
D-Glyceric Aciduria DGL002
D-Minus Hemolytic Uremic Syndrome DMN007
D-Plus Hemolytic Uremic Syndrome DPL004
Dacryoadenitis DCR003
Dacryocystitis DCR004
Dacryocystocele DCR002
Daentl Towsend Siegel Syndrome DNT019
Dahlberg Borer Newcomer Syndrome DHL001
Daish Hardman Lamont Syndrome DSH001
Dandy-Walker Complex DND005
Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures DND017
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
Dandy-Walker Malformation with Postaxial Polydactyly DND013
Dandy-Walker Malformation with Sagittal Craniosynostosis and Hydrocephalus DND014
Dandy-Walker Syndrome DND001
Daneman Davy Mancer Syndrome DNM003
Danon Disease DNN001
Danubian Endemic Familial Nephropathy DNB001 AAN
Darier-White Disease DRR014 DD
Dartoic Leiomyoma DRT001
Darwinian Tubercle of Pinna DRW001
Dauwerse-Peters Syndrome DWR002
Davenport Donlan Syndrome DVN001
Dcx-Related Disorders DCX001
Ddx3x-Related Intellectual Disability DDX001
De Morsier's Syndrome Information DMR001
De Novo Thrombotic Microangiopathy After Kidney Transplantation DNV002
De Quervain Disease DQR001
De Sanctis-Cacchione Syndrome DSN001
Deaf1-Associated Disorders DF1001
Deafness and Myopia DFN256
Deafness Enamel Hypoplasia Nail Defects DFN007
Deafness Goiter Stippled Epiphyses DFN008
Deafness Hyperuricemia Neurologic Ataxia DFN009
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 with Labyrinthine Aplasia Microtia and Microdontia DFN021
Deafness X-Linked, Dfn3 DFN022
Deafness-Craniofacial Syndrome DFN311
Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome DFN300
Deafness-Hypogonadism Syndrome DFN313
Deafness-Infertility Syndrome DFN039
Deafness-Lymphedema-Leukemia Syndrome DFN299
Deafness-Oligodontia Syndrome DFN307
Deafness, Aminoglycoside-Induced DFN350
Deafness, Autosomal Dominant 1 DFN131 DFNA1
Deafness, Autosomal Dominant 10 DFN107
Deafness, Autosomal Dominant 11 DFN251
Deafness, Autosomal Dominant 12 DFN353
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 DFN354
Deafness, Autosomal Dominant 21 DFN150
Deafness, Autosomal Dominant 22 DFN196
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 33 DFN257
Deafness, Autosomal Dominant 34, with or Without Inflammation DFN362
Deafness, Autosomal Dominant 36 DFN128
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 DFN355
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 4a DFN267
Deafness, Autosomal Dominant 4b DFN266
Deafness, Autosomal Dominant 5 DFN159
Deafness, Autosomal Dominant 50 DFN119
Deafness, Autosomal Dominant 51 DFN246
Deafness, Autosomal Dominant 52 DFN160
Deafness, Autosomal Dominant 53 DFN161
Deafness, Autosomal Dominant 54 DFN272
Deafness, Autosomal Dominant 56 DFN274
Deafness, Autosomal Dominant 58 DFN271
Deafness, Autosomal Dominant 59 DFN162
Deafness, Autosomal Dominant 6 DFN351
Deafness, Autosomal Dominant 64 DFN255
Deafness, Autosomal Dominant 65 DFN278
Deafness, Autosomal Dominant 66 DFN329
Deafness, Autosomal Dominant 67 DFN284
Deafness, Autosomal Dominant 68 DFN336
Deafness, Autosomal Dominant 69 DFN360
Deafness, Autosomal Dominant 7 DFN163
Deafness, Autosomal Dominant 70 DFN327
Deafness, Autosomal Dominant 71 DFN335
Deafness, Autosomal Dominant 72 DFN328
Deafness, Autosomal Dominant 73 DFN333
Deafness, Autosomal Dominant 9 DFN136
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
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 DFN028
Deafness, Autosomal Recessive DFN280
Deafness, Autosomal Recessive 101 DFN273
Deafness, Autosomal Recessive 102 DFN277
Deafness, Autosomal Recessive 103 DFN281
Deafness, Autosomal Recessive 104 DFN283
Deafness, Autosomal Recessive 105 DFN326
Deafness, Autosomal Recessive 106 DFN361
Deafness, Autosomal Recessive 107 DFN337
Deafness, Autosomal Recessive 108 DFN325
Deafness, Autosomal Recessive 109 DFN365
Deafness, Autosomal Recessive 12 DFN141
Deafness, Autosomal Recessive 13 DFN164
Deafness, Autosomal Recessive 14 DFN165
Deafness, Autosomal Recessive 15 DFN262
Deafness, Autosomal Recessive 16 DFN143
Deafness, Autosomal Recessive 17 DFN166
Deafness, Autosomal Recessive 18a DFN247
Deafness, Autosomal Recessive 18b DFN248
Deafness, Autosomal Recessive 1a DFN097
Deafness, Autosomal Recessive 1b DFN103
Deafness, Autosomal Recessive 2 DFN250
Deafness, Autosomal Recessive 20 DFN167
Deafness, Autosomal Recessive 21 DFN130
Deafness, Autosomal Recessive 22 DFN132
Deafness, Autosomal Recessive 23 DFN093
Deafness, Autosomal Recessive 24 DFN252
Deafness, Autosomal Recessive 25 DFN095
Deafness, Autosomal Recessive 26 DFN168
Deafness, Autosomal Recessive 26, Modifier of DFN363
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 32 DFN241
Deafness, Autosomal Recessive 33 DFN171
Deafness, Autosomal Recessive 35 DFN111
Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement DFN356
Deafness, Autosomal Recessive 37 DFN197
Deafness, Autosomal Recessive 38 DFN172
Deafness, Autosomal Recessive 39 DFN120
Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct DFN245
Deafness, Autosomal Recessive 40 DFN173
Deafness, Autosomal Recessive 42 DFN244
Deafness, Autosomal Recessive 44 DFN174
Deafness, Autosomal Recessive 45 DFN175
Deafness, Autosomal Recessive 46 DFN261
Deafness, Autosomal Recessive 47 DFN357
Deafness, Autosomal Recessive 48 DFN258
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 57 DFN364
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 68 DFN263
Deafness, Autosomal Recessive 7 DFN127
Deafness, Autosomal Recessive 70 DFN242
Deafness, Autosomal Recessive 71 DFN182
Deafness, Autosomal Recessive 74 DFN116
Deafness, Autosomal Recessive 76 DFN265
Deafness, Autosomal Recessive 77 DFN108
Deafness, Autosomal Recessive 79 DFN123
Deafness, Autosomal Recessive 8 DFN352
Deafness, Autosomal Recessive 83 DFN183
Deafness, Autosomal Recessive 84a DFN253
Deafness, Autosomal Recessive 84b DFN254
Deafness, Autosomal Recessive 85 DFN184
Deafness, Autosomal Recessive 86 DFN259
Deafness, Autosomal Recessive 88 DFN243
Deafness, Autosomal Recessive 89 DFN260
Deafness, Autosomal Recessive 9 DFN133
Deafness, Autosomal Recessive 91 DFN135
Deafness, Autosomal Recessive 93 DFN249
Deafness, Autosomal Recessive 96 DFN240
Deafness, Autosomal Recessive 97 DFN330
Deafness, Autosomal Recessive 98 DFN269
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
Deafness, Congenital, and Familial Myoclonic Epilepsy DFN343
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia DFN358
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
Deafness, Epiphyseal Dysplasia, Short Stature DFN031
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
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome DFN344
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
Deafness, X-Linked 2 DFN036
Deafness, X-Linked 3 DFN146
Deafness, X-Linked 4 DFN147
Deafness, X-Linked 5 DFN105
Deafness, X-Linked 6 DFN276
Deafness, X-Linked, Dfn DFN037
Deafness, Y-Linked 1 DFN186
Decubitus Ulcer DCB001
Dedifferentiated Liposarcoma DDF001
Deep Angioma DPN002
Deep Corneal Vascularisation DPC001
Deep Dermatophytosis DPD001
Deep Keratitis DPK001
Deep Leiomyoma DPL001
Defective Apolipoprotein B-100 DFC001
Deficiency Anemia DFC004
Degeneration of Macula and Posterior Pole DGN003
Degenerative Disc Disease DGN001
Degenerative Myopia DGN002
Degos 'en Cocarde' Erythrokeratoderma DGS002
Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema DHY016
Dehydrated Hereditary Stomatocytosis 2 DHY015
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema DHY006
Dehydration Polycythemia DHY001
Delayed Sleep Phase Disorder DLY008
Deletion 5q35 DLT013
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 Polyneuropathy DMY001
Dendritic Cell Thymoma DND003
Dendritic Cell Tumor DND018
Dengue Disease DNG003
Dengue Hemorrhagic Fever DNG002
Dengue Shock Syndrome DNG001
Dengue Virus DNG005
Dennis Fairhurst Moore Syndrome DNN003
Dens Evaginatus DNS009
Dens in Dente and Palatal Invaginations DNS002
Dense Deposit Disease DNS007
Dent Disease 1 DNT020
Dent Disease 2 DNT021
Dental Abscess DNT046
Dental Anomalies and Short Stature DNT045
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
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
Dentinogenesis Imperfecta 1 DNT025 DGI2
Dentinogenesis Imperfecta Type 2 DNT047
Dentinogenesis Imperfecta Type 3 DNT048
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome DNT049
Dentinogenesis Imperfecta, Shields Type Iii DNT044 DGI3
Denture Stomatitis DNT008
Denys-Drash Syndrome DNY001
Deoxyguanosine Kinase Deficiency DXY001
Deoxyribose-5-Phosphate Aldolase Deficiency DXY002
Depdc5-Related Epilepsy DPD002
Dependent Personality Disorder DPN001
Depersonalization Disorder DPR002
Depersonalization/derealization Disorder DPR015
Depressed Scar DPR012
Depression DPR016
Der Kaloustian Mcintosh Silver Syndrome DRK001
Dermal Ridges-off-the-End DRM046 ROES
Dermal Ridges, Nelson Syndrome DRM044
Dermal Ridges, Patternless DRM045
Dermal Unilateral Segmental Cavernous Angioma DRM001
Dermatitis DRM006
Dermatitis Herpetiformis DRM007
Dermatitis Herpetiformis, Familial DRM040
Dermatitis, Atopic DRM053
Dermatitis, Atopic, 2 DRM054
Dermatitis, Atopic, 3 DRM055
Dermatitis, Atopic, 4 DRM056
Dermatitis, Atopic, 5 DRM057
Dermatitis, Atopic, 6 DRM058
Dermatitis, Atopic, 7 DRM059
Dermatitis, Atopic, 8 DRM060
Dermatitis, Atopic, 9 DRM061
Dermatocardioskeletal Syndrome Boronne Type DRM018
Dermatofibrosarcoma Protuberans DRM014
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
Dermatoosteolysis, Kirghizian Type DRM042
Dermatopathia Pigmentosa Reticularis DRM021 DPR
Dermatophytosis DRM011
Dermatosis Papulosa Nigra DRM003
Dermis Tumor DRM012
Dermochondrocorneal Dystrophy DRM043
Dermochondrocorneal Dystrophy of François DRM036
Dermographism, Familial DRM050
Dermoid Cyst DRM013
Dermoid Cyst of Skin DRM002
Dermoid Cysts, Familial Frontonasal DRM041
Dermoids of Cornea DRM015
Dermoodontodysplasia DRM023
Dermotrichic Syndrome DRM038
Desanto-Shinawi Syndrome DSN002
Desbuquois Dysplasia DSB002
Desbuquois Dysplasia 1 DSB006
Desbuquois Dysplasia 2 DSB005
Descending Colon Cancer DSC005
Desmoid Disease, Hereditary DSM003
Desmoid Tumor DSM004
Desmoplastic Infantile Astrocytoma DSM005
Desmoplastic Infantile Astrocytoma/ganglioglioma DSM014
Desmoplastic Infantile Ganglioglioma DSM006
Desmoplastic Small Round Cell Tumor DSM007
Desmosterolosis DSM002
Desquamative Interstitial Pneumonia DSQ001
Detrusor Sphincter Dyssynergia DTR001
Developmental Coordination Disorder DVL001
Developmental Delay and Seizures with or Without Movement Abnormalities DVL019
Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair DVL018
Developmental Delay-Deafness Syndrome, Hildebrand Type DVL015
Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features DVL020
Developmental Dysplasia of the Hip 1 DVL012
Developmental Dysplasia of the Hip 2 DVL011
Developmental Dyspraxia DVL005
Devriendt Syndrome DVR003
Dextro-Looped Transposition of the Great Arteries DXT004
Dextro-Looped Transposition of the Great Arteries 3 DXT005
Dextrocardia DXT001
Dextrocardia with Situs Inversus DXT002
Dextrocardia with Unusual Facies and Microphthalmia DXT003
Dfna2 Nonsyndromic Hearing Loss DFN001
Dfnb1 DFN038
Dfnx1 Nonsyndromic Hearing Loss and Deafness DFN002
Dhdds-Cdg DHD002
Diabetes and Deafness, Maternally Inherited DBT090
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
Diabetes Insipidus, Neurohypophyseal DBT087 NDI
Diabetes Mellitus DBT009
Diabetes Mellitus, 6q24-Related Transient Neonatal DBT013
Diabetes Mellitus, Congenital Autoimmune DBT096
Diabetes Mellitus, Insulin-Dependent DBT085
Diabetes Mellitus, Insulin-Dependent, 10 DBT094
Diabetes Mellitus, Insulin-Dependent, 11 DBT048
Diabetes Mellitus, Insulin-Dependent, 12 DBT082
Diabetes Mellitus, Insulin-Dependent, 13 DBT049
Diabetes Mellitus, Insulin-Dependent, 15 DBT050
Diabetes Mellitus, Insulin-Dependent, 17 DBT051
Diabetes Mellitus, Insulin-Dependent, 18 DBT052
Diabetes Mellitus, Insulin-Dependent, 19 DBT077
Diabetes Mellitus, Insulin-Dependent, 2 DBT040 IDDM2
Diabetes Mellitus, Insulin-Dependent, 20 DBT034
Diabetes Mellitus, Insulin-Dependent, 21 DBT079
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, X-Linked DBT060
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans DBT020
Diabetes Mellitus, Ketosis-Prone DBT084
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism DBT022
Diabetes Mellitus, Noninsulin-Dependent DBT026 NIDDM
Diabetes Mellitus, Noninsulin-Dependent, 1 DBT093
Diabetes Mellitus, Noninsulin-Dependent, 2 DBT033
Diabetes Mellitus, Noninsulin-Dependent, 3 DBT095
Diabetes Mellitus, Noninsulin-Dependent, 4 DBT097
Diabetes Mellitus, Noninsulin-Dependent, 5 DBT086
Diabetes Mellitus, Permanent Neonatal DBT083
Diabetes Mellitus, Transient Neonatal, 1 DBT064
Diabetes Mellitus, Transient Neonatal, 2 DBT098
Diabetes Mellitus, Transient Neonatal, 3 DBT044
Diabetes Persistent Mullerian Ducts DBT016
Diabetic Angiopathy DBT008
Diabetic Autonomic Neuropathy DBT002
Diabetic Cataract DBT007
Diabetic Encephalopathy DBT081
Diabetic Foot Ulcers DBT062
Diabetic Macular Edema DBT006
Diabetic Mastopathy DBT018
Diabetic Neuropathy DBT010
Diabetic Peripheral Angiopathy DBT003
Diabetic Polyneuropathy DBT004
Diaminopentanuria DMN042
Diamond-Blackfan Anemia DMN001
Diamond-Blackfan Anemia 1 DMN023 DBA1
Diamond-Blackfan Anemia 10 DMN017
Diamond-Blackfan Anemia 11 DMN029
Diamond-Blackfan Anemia 12 DMN028
Diamond-Blackfan Anemia 13 DMN030
Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis DMN037
Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis DMN043
Diamond-Blackfan Anemia 16 DMN040
Diamond-Blackfan Anemia 17 DMN039
Diamond-Blackfan Anemia 2 DMN005
Diamond-Blackfan Anemia 3 DMN006
Diamond-Blackfan Anemia 4 DMN019
Diamond-Blackfan Anemia 5 DMN018
Diamond-Blackfan Anemia 6 DMN021
Diamond-Blackfan Anemia 7 DMN024
Diamond-Blackfan Anemia 8 DMN020
Diamond-Blackfan Anemia 9 DMN022
Diamond-Blackfan Anemia-Like DMN045
Dianzani Autoimmune Lymphoproliferative Disease DNZ002
Diaphanospondylodysostosis DPH019
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 Hernia 2 DPH025
Diaphragmatic Hernia 3 DPH016
Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis DPH010
Diaphragmatic Hernia Upper Limb Defects DPH011
Diaphragmatic Hernia, Congenital DPH024
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma DPH007 DMSMFH
Diarrhea DRR001
Diarrhea 1, Secretory Chloride, Congenital DRR008
Diarrhea 2, with Microvillus Atrophy DRR016
Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies DRR017
Diarrhea 4, Malabsorptive, Congenital DRR005
Diarrhea 5, with Tufting Enteropathy, Congenital DRR003
Diarrhea 6 DRR009
Diarrhea 7 DRR007
Diarrhea 8, Secretory Sodium, Congenital DRR013
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
Diastolic Heart Failure DST006
Diastrophic Dysplasia DST005
Dibasic Amino Aciduria I DBS003
Dic in Newborn DCN001
Dicarboxylic Aminoaciduria DCR008
Dicer1-Related Disorders DCR009
Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome DCR007
Dicrocoeliasis DCR001
Didelphys Uterus DDL001
Didymosis Aplasticosebacea DDY001
Die Smulders Droog Van Dijk Syndrome DSM008
Die Smulders Vles Fryns Syndrome DSM009
Diencephalic Astrocytomas DNC001
Diencephalic Neoplasm DNC002
Diencephalic Syndrome DNC004
Diencephalic-Mesencephalic Junction Dysplasia DNC006
Dientamoebiasis DNT004
Dieterich's Disease DTR002
Diethylstilbestrol Syndrome DTH005
Dieulafoy Lesion DLF001
Differentiated Thyroid Carcinoma DFF036
Differentiating Neuroblastoma DFF012
Diffuse Alopecia Areata DFF010
Diffuse Alveolar Hemorrhage DFF031
Diffuse Cavernous Hemangioma of the Rectum DFF017
Diffuse Cutaneous Mastocytosis DFF001
Diffuse Cutaneous Systemic Sclerosis DFF035
Diffuse Dermal Angiomatosis DFF018
Diffuse Gastric Cancer DFF019
Diffuse Glomerulonephritis DFF015
Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia DFF020
Diffuse Idiopathic Skeletal Hyperostosis DFF006
Diffuse Infiltrative Lymphocytosis Syndrome DFF007
Diffuse Interstitial Keratitis DFF011
Diffuse Intraductal Papillomatosis DFF014
Diffuse Intrinsic Pontine Glioma DFF037
Diffuse Large B-Cell Lymphoma DFF005
Diffuse Large B-Cell Lymphoma of the Central Nervous System DFF029
Diffuse Large B-Cell Lymphoma with Chronic Inflammation DFF030
Diffuse Leptomeningeal Melanocytosis DFF028
Diffuse Lipomatosis DFF009
Diffuse Lymphatic Malformation DFF027
Diffuse Meningeal Melanocytosis DFF013
Diffuse Mesangial Sclerosis DFF021
Diffuse Neonatal Hemangiomatosis DFF022
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome DFF032
Diffuse Palmoplantar Keratoderma, Bothnian Type DFF023
Diffuse Peritoneal Leiomyomatosis DFF004
Diffuse Pulmonary Fibrosis DFF002
Diffuse Scleroderma DFF003
Diffuse Secondary Choroid Atrophy DFF008
Digeorge Syndrome DGR001
Digeorge Syndrome/velocardiofacial Syndrome Complex 2 DGR006
Digestive Duplication DGS007
Digestive Duplication Cyst of the Tongue DGS006
Digestive System Melanoma DGS008
Digital Anomalies-Intellectual Disability-Short Stature Syndrome DGT008
Digital Arthropathy-Brachydactyly, Familial DGT005
Digital Clubbing, Isolated Congenital DGT002 ICNC
Digitalis Poisoning DGT004
Digitotalar Dysmorphism DGT009 DA1
Dihydrolipoamide Dehydrogenase Deficiency DHY010
Dihydropyrimidinase Deficiency DHY011
Dihydropyrimidine Dehydrogenase Deficiency DHY002
Dihydroxyadeninuria DHY008
Dilated Cardiomyopathy DLT002
Dilated Cardiomyopathy 1t DLT017
Dilution, Pigmentary DLT018
Dimethylglycine Dehydrogenase Deficiency DMT001
Dimples, Facial DMP002
Dioctophymiasis DCT001
Diomedi Bernardi Placidi Syndrome DMD002
Dipetalonemiasis DPT001
Diphallia DPH012
Diphallus Rachischisis Imperforate Anus DPH013
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
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 of Mental Health DSS008
Disease_ontology DSS023
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
Disorder of Peroxisomal Alpha-, Beta- and Omega-Oxidation DSR009
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency DSR012
Disorders of Gnas Inactivation DSR013
Disorders of Intracellular Cobalamin Metabolism DSR002
Disorders with Deficiency of a Single Peroxisomal Enzyme DSR010
Disorganization, Mouse, Homolog of DSR011
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
Disseminated Intravascular Coagulation DSS009
Disseminated Peritoneal Leiomyomatosis DSS022
Disseminated Sclerosis with Narcolepsy DSS026
Dissociated Nystagmus DSS005
Dissociative Amnesia DSS002
Dissociative Disorder DSS010
Dissociative Seizures DSS025
Distal 17p13.3 Microdeletion Syndrome DST054
Distal 22q11.2 Microduplication Syndrome DST055
Distal 7q11.23 Microduplication Syndrome DST052
Distal Arthrogryposis DST002
Distal Arthrogryposis with Hypopituitarism, Intellectual Disability and Facial Anomalies DST096
Distal Biliary Tract Carcinoma DST001
Distal Chromosome 18q Deletion Syndrome DST011
Distal Hereditary Motor Neuropathies DST101
Distal Hereditary Motor Neuropathy Type 7 DST092
Distal Hereditary Motor Neuropathy, Type Ii DST027
Distal Hereditary Motor Neuropathy, Type V DST030
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 DST004
Distal Myopathy with Vocal Cord Weakness DST013
Distal Osteosclerosis DST098
Distal Primary Acidosis, Familial DST014
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
Distal Xq28 Microduplication Syndrome DST061
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
Dmd-Related Dilated Cardiomyopathy DMD004
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
Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy DNM001
Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy DNM002
Dnmt3a Overgrowth Syndrome DNM004
Dobrow Syndrome DBR003
Dock2 Deficiency DCK001
Dohle Bodies and Leukemia DHL002
Dolk-Congenital Disorder of Glycosylation DLK002
Dominant Cleft Palate DMN008
Dominant Dystrophic Epidermolysis Bullosa DMN011
Dominant Dystrophic Epidermolysis Bullosa, Nails Only DMN044
Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis DMN034
Dominant Ichthyosis Vulgaris DMN009
Donnai-Barrow Syndrome DNN002
Donohue Syndrome DNH001
Dopa-Responsive Dystonia; Segawa Syndrome Ad DPR013
Dopamine Beta-Hydroxylase Deficiency, Congenital DPM007
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
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 with Pulmonary Stenosis DBL018
Double Pterygium DBL001
Double Uterus-Hemivagina-Renal Agenesis DBL008
Double-Orifice Mitral Valve DBL010
Doughnut Lesions of Skull, Familial DGH001
Dowling-Degos Disease DWL001
Dowling-Degos Disease 1 DWL002
Dowling-Degos Disease 2 DWL003
Dowling-Degos Disease 3 DWL005
Dowling-Degos Disease 4 DWL004
Down Syndrome DWN001
Doxorubicin Induced Cardiomyopathy DXR001
Doyne Honeycomb Retinal Dystrophy DYN002 DHRD
Drachtman Weinblatt Sitarz Syndrome DRC003
Dracunculiasis DRC001
Dressler's Syndrome DRS001
Drug Dependence DRG003
Drug Induced Dyskinesia DRG016
Drug Metabolism, Poor, Cyp2c19-Related DRG021
Drug Metabolism, Poor, Cyp2d6-Related DRG020
Drug or Radiation Exposure-Related Interstitial Lung Disease DRG018
Drug Psychosis DRG001
Drug Rash with Eosinophilia and Systemic Symptoms DRG012
Drug-Induced Autoimmune Hemolytic Anemia DRG014
Drug-Induced Hepatitis DRG002
Drug-Induced Lupus Erythematosus DRG013
Drug-Induced Mental Disorder DRG004
Drug-Induced Vasculitis DRG017
Drug-Related Renal Tubular Dysgenesis DRG019
Dry Eye Syndrome DRY001
Duane Anomaly-Myopathy-Scoliosis Syndrome DNN007
Duane Retraction Syndrome DNR001
Duane Retraction Syndrome 1 DNR003 DRS
Duane Retraction Syndrome 2 DNR004
Duane Retraction Syndrome 3 with or Without Deafness DNR006
Duane Syndrome Type 1 DNS003
Duane Syndrome Type 2 DNS004
Duane Syndrome Type 3 DNS005
Duane-Radial Ray Syndrome DNR002
Duarte Variant Galactosemia DRT002
Dubin-Johnson Syndrome DBN001
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 Disease DDN007
Duodenal Gastrinoma DDN002
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 Adenoma DDN022
Duodenum Cancer DDN010
Duplication of Leg Mirror Foot DPL005
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
Dyggve-Melchior-Clausen Syndrome, X-Linked DYG003
Dykes Markes Harper Syndrome DYK001
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
Dyscalculia DYS004
Dyschondrosteosis and Nephritis DYS180
Dyschromatosis Symmetrica Hereditaria DYS022 DSH
Dyschromatosis Universalis Hereditaria DYS023
Dyschromatosis Universalis Hereditaria 1 DYS090 DUH1
Dyschromatosis Universalis Hereditaria 2 DYS091
Dyschromatosis Universalis Hereditaria 3 DYS139
Dysembryoplastic Neuroepithelial Tumor DYS006
Dysentery DYS015
Dyserythropoiesis, Congenital, with Ultrastructurally Normal Erythroblast Heterochromatin DYS197
Dyserythropoietic Anemia and Thrombocytopenia DYS127
Dysferlinopathy DYS030
Dysfibrinogenemia DYS026
Dysfibrinogenemia, Congenital DYS165
Dysgammaglobulinemia DYS016
Dysgerminoma of Ovary DYS017
Dysgnathia Complex DYS038
Dysgraphia DYS003
Dyshormonogenic Goiter DYS008
Dyskeratosis Congenita DYS007
Dyskeratosis Congenita Autosomal Dominant DYS039
Dyskeratosis Congenita Autosomal Recessive DYS040
Dyskeratosis Congenita, Autosomal Dominant 1 DYS141 DKCA1
Dyskeratosis Congenita, Autosomal Dominant 2 DYS143
Dyskeratosis Congenita, Autosomal Dominant 3 DYS147
Dyskeratosis Congenita, Autosomal Dominant 6 DYS174
Dyskeratosis Congenita, Autosomal Recessive 1 DYS149
Dyskeratosis Congenita, Autosomal Recessive 2 DYS144
Dyskeratosis Congenita, Autosomal Recessive 3 DYS150
Dyskeratosis Congenita, Autosomal Recessive 5 DYS152
Dyskeratosis Congenita, Autosomal Recessive 6 DYS173
Dyskeratosis Congenita, X-Linked DYS164
Dyskeratosis, Hereditary Benign Intraepithelial DYS096 DKBI
Dyskinesia of Esophagus DYS011
Dyskinesia, Familial, with Facial Myokymia DYS140
Dyskinesia, Limb and Orofacial, Infantile-Onset DYS188
Dyskinesia, Seizures, and Intellectual Developmental Disorder DYS189
Dyskinetic Cerebral Palsy DYS001
Dyslexia DYS005
Dyslexia 1 DYS121 DYX1
Dyslexia 2 DYS120
Dyslexia 3 DYS122
Dyslexia 5 DYS123
Dyslexia 6 DYS124
Dyslexia 8 DYS125
Dyslexia 9 DYS126
Dysmorphism Cleft Palate Loose Skin DYS044
Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome DYS177
Dysmyelination with Jaundice DYS195
Dysosteosclerosis DYS045
Dysostosis DYS018
Dyspepsia DYS014
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
Dyssegmental Dysplasia, Silverman-Handmaker Type DYS160
Dysspondyloenchondromatosis DYS134
Dystelephalangy DYS053
Dysthymic Disorder DYS009
Dystonia DYS154
Dystonia 1, Torsion, Autosomal Dominant DYS191 DYT1
Dystonia 11, Myoclonic DYS193
Dystonia 12 DYS056 DYT12
Dystonia 13, Torsion, Autosomal Dominant DYS185
Dystonia 15, Myoclonic DYS058
Dystonia 16 DYS059
Dystonia 17, Torsion, Autosomal Recessive DYS184
Dystonia 2, Torsion, Autosomal Recessive DYS063
Dystonia 21 DYS138
Dystonia 23 DYS145
Dystonia 24 DYS146
Dystonia 25 DYS151
Dystonia 26, Myoclonic DYS175
Dystonia 27 DYS172
Dystonia 28, Childhood-Onset DYS190
Dystonia 3, Torsion, X-Linked DYS064
Dystonia 4, Torsion, Autosomal Dominant DYS163 DYT4
Dystonia 6, Torsion DYS067
Dystonia 7, Torsion DYS068
Dystonia 9 DYS119
Dystonia with Cerebellar Atrophy DYS199
Dystonia with Ringbinden DYS196
Dystonia-Aphonia Syndrome DYS158
Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities DYS187
Dystonia, Dopa-Responsive DYS192 DRD
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency DYS161
Dystonia, Focal, Task-Specific DYS198
Dystonia, Juvenile-Onset DYS162
Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease DYS031
Dystrophies Primarily Involving the Retinal Pigment Epithelium DYS010
Dystrophinopathies DYS032
Dyt1 Early-Onset Isolated Dystonia DYT002
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