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Human Disease Vocabulary Browser
The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).

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Human Diseases/Syndromes Beginning with "D"

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OMIM IDHuman Disease
OMIM:600721 D-2-Hydroxyglutaric Aciduria 1; D2HGA1
OMIM:613657 D-2-Hydroxyglutaric Aciduria 2; D2HGA2
OMIM:220219 Dandy-Walker Malformation with Impaired Intellectual Development, Macrocephaly, Myopia, and Brachytelephalangy
OMIM:609222 Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant; ADDWOC
OMIM:220220 Dandy-Walker Malformation with Postaxial Polydactyly
OMIM:220200 Dandy-Walker Syndrome; DWS
OMIM:300257 Danon Disease
OMIM:124100 Danubian Endemic Familial Nephropathy
OMIM:124200 Darier-White Disease; DAR
OMIM:124300 Darwinian Tubercle of Pinna
OMIM:611733 Dauwerse-Peters Syndrome
OMIM:261515 D-Bifunctional Protein Deficiency
OMIM:601151 Dead/H-Box Helicase 12, Pseudogene; DDX12P
OMIM:580000 Deafness, Aminoglycoside-Induced
OMIM:221200 Deafness and Myopia; DFNMYP
OMIM:601316 Deafness, Autosomal Dominant 10; DFNA10
OMIM:601317 Deafness, Autosomal Dominant 11; DFNA11
OMIM:601543 Deafness, Autosomal Dominant 12; DFNA12
OMIM:601868 Deafness, Autosomal Dominant 13; DFNA13
OMIM:602459 Deafness, Autosomal Dominant 15; DFNA15
OMIM:603964 Deafness, Autosomal Dominant 16; DFNA16
OMIM:603622 Deafness, Autosomal Dominant 17; DFNA17
OMIM:606012 Deafness, Autosomal Dominant 18; DFNA18
OMIM:124900 Deafness, Autosomal Dominant 1, with or without Thrombocytopenia;
OMIM:604717 Deafness, Autosomal Dominant 20; DFNA20
OMIM:607017 Deafness, Autosomal Dominant 21; DFNA21
OMIM:606346 Deafness, Autosomal Dominant 22; DFNA22
OMIM:605192 Deafness, Autosomal Dominant 23; DFNA23
OMIM:606282 Deafness, Autosomal Dominant 24; DFNA24
OMIM:605583 Deafness, Autosomal Dominant 25; DFNA25
OMIM:612431 Deafness, Autosomal Dominant 27; DFNA27
OMIM:608641 Deafness, Autosomal Dominant 28; DFNA28
OMIM:600101 Deafness, Autosomal Dominant 2A; DFNA2A
OMIM:612644 Deafness, Autosomal Dominant 2B; DFNA2B
OMIM:606451 Deafness, Autosomal Dominant 30; DFNA30
OMIM:608645 Deafness, Autosomal Dominant 31; DFNA31
OMIM:614211 Deafness, Autosomal Dominant 33; DFNA33
OMIM:617772 Deafness, Autosomal Dominant 34, with or without Inflammation; DFNA34
OMIM:606705 Deafness, Autosomal Dominant 36; DFNA36
OMIM:618533 Deafness, Autosomal Dominant 37; DFNA37
OMIM:605594 Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
OMIM:601544 Deafness, Autosomal Dominant 3A; DFNA3A
OMIM:612643 Deafness, Autosomal Dominant 3b; DFNA3B
OMIM:616357 Deafness, Autosomal Dominant 40; DFNA40
OMIM:608224 Deafness, Autosomal Dominant 41; DFNA41
OMIM:608394 Deafness, Autosomal Dominant 43; DFNA43
OMIM:607453 Deafness, Autosomal Dominant 44; DFNA44
OMIM:608652 Deafness, Autosomal Dominant 47; DFNA47
OMIM:607841 Deafness, Autosomal Dominant 48; DFNA48
OMIM:608372 Deafness, Autosomal Dominant 49; DFNA49
OMIM:600652 Deafness, Autosomal Dominant 4A; DFNA4A
OMIM:614614 Deafness, Autosomal Dominant 4b; DFNA4B
OMIM:613074 Deafness, Autosomal Dominant 50; DFNA50
OMIM:613558 Deafness, Autosomal Dominant 51; DFNA51
OMIM:609965 Deafness, Autosomal Dominant 53; DFNA53
OMIM:615649 Deafness, Autosomal Dominant 54; DFNA54
OMIM:615629 Deafness, Autosomal Dominant 56; DFNA56
OMIM:615654 Deafness, Autosomal Dominant 58; DFNA58
OMIM:612642 Deafness, Autosomal Dominant 59; DFNA59
OMIM:600994 Deafness, Autosomal Dominant 5; DFNA5
OMIM:614152 Deafness, Autosomal Dominant 64; DFNA64
OMIM:616044 Deafness, Autosomal Dominant 65; DFNA65
OMIM:616969 Deafness, Autosomal Dominant 66; DFNA66
OMIM:616340 Deafness, Autosomal Dominant 67; DFNA67
OMIM:616707 Deafness, Autosomal Dominant 68; DFNA68
OMIM:616697 Deafness, Autosomal Dominant 69; DFNA69
OMIM:600965 Deafness, Autosomal Dominant 6; DFNA6
OMIM:616968 Deafness, Autosomal Dominant 70; DFNA70
OMIM:617605 Deafness, Autosomal Dominant 71; DFNA71
OMIM:617606 Deafness, Autosomal Dominant 72; DFNA72
OMIM:617663 Deafness, Autosomal Dominant 73; DFNA73
OMIM:618140 Deafness, Autosomal Dominant 74; DFNA74
OMIM:618778 Deafness, Autosomal Dominant 75; DFNA75
OMIM:618787 Deafness, Autosomal Dominant 76; DFNA76
OMIM:618915 Deafness, Autosomal Dominant 77; DFNA77
OMIM:619081 Deafness, Autosomal Dominant 78; DFNA78
OMIM:619086 Deafness, Autosomal Dominant 79; DFNA79
OMIM:601412 Deafness, Autosomal Dominant 7; DFNA7
OMIM:619274 Deafness, Autosomal Dominant 80; DFNA80
OMIM:619500 Deafness, Autosomal Dominant 81; DFNA81
OMIM:619804 Deafness, Autosomal Dominant 82; DFNA82
OMIM:619808 Deafness, Autosomal Dominant 83; DFNA83
OMIM:619810 Deafness, Autosomal Dominant 84; DFNA84
OMIM:620227 Deafness, Autosomal Dominant 85; DFNA85
OMIM:620280 Deafness, Autosomal Dominant 86; DFNA86
OMIM:620281 Deafness, Autosomal Dominant 87; DFNA87
OMIM:620283 Deafness, Autosomal Dominant 88; DFNA88
OMIM:620284 Deafness, Autosomal Dominant 89; DFNA89
OMIM:620722 Deafness, Autosomal Dominant 90; DFNA90
OMIM:601369 Deafness, Autosomal Dominant 9; DFNA9
OMIM:607197 Deafness, Autosomal Recessive
OMIM:618422 Deafness, Autosomal Recessive 100; DFNB100
OMIM:615837 Deafness, Autosomal Recessive 101; DFNB101
OMIM:615974 Deafness, Autosomal Recessive 102; DFNB102
OMIM:616042 Deafness, Autosomal Recessive 103; DFNB103
OMIM:616515 Deafness, Autosomal Recessive 104; DFNB104
OMIM:617637 Deafness, Autosomal Recessive 106; DFNB106
OMIM:617639 Deafness, Autosomal Recessive 107; DFNB107
OMIM:617654 Deafness, Autosomal Recessive 108; DFNB108
OMIM:618013 Deafness, Autosomal Recessive 109; DFNB109
OMIM:618094 Deafness, Autosomal Recessive 110; DFNB110
OMIM:618145 Deafness, Autosomal Recessive 111; DFNB111
OMIM:618257 Deafness, Autosomal Recessive 112; DFNB112
OMIM:618410 Deafness, Autosomal Recessive 113; DFNB113
OMIM:618456 Deafness, Autosomal Recessive 114; DFNB114
OMIM:618457 Deafness, Autosomal Recessive 115; DFNB115
OMIM:619093 Deafness, Autosomal Recessive 116; DFNB116
OMIM:619174 Deafness, Autosomal Recessive 117; DFNB117
OMIM:619553 Deafness, Autosomal Recessive 118, with Cochlear Aplasia; DFNB118
OMIM:619615 Deafness, Autosomal Recessive 119; DFNB119
OMIM:620238 Deafness, Autosomal Recessive 120; DFNB120
OMIM:620551 Deafness, Autosomal Recessive 121; DFNB121
OMIM:620714 Deafness, Autosomal Recessive 122; DFNB122
OMIM:620745 Deafness, Autosomal Recessive 123; DFNB123
OMIM:620794 Deafness, Autosomal Recessive 124; DFNB124
OMIM:620877 Deafness, Autosomal Recessive 125; DFNB125
OMIM:601386 Deafness, Autosomal Recessive 12; DFNB12
OMIM:603098 Deafness, Autosomal Recessive 13; DFNB13
OMIM:603678 Deafness, Autosomal Recessive 14; DFNB14
OMIM:601869 Deafness, Autosomal Recessive 15; DFNB15
OMIM:603720 Deafness, Autosomal Recessive 16; DFNB16
OMIM:603010 Deafness, Autosomal Recessive 17; DFNB17
OMIM:602092 Deafness, Autosomal Recessive 18a; DFNB18A
OMIM:614945 Deafness, Autosomal Recessive 18b; DFNB18B
OMIM:220290 Deafness, Autosomal Recessive 1A; DFNB1A
OMIM:612645 Deafness, Autosomal Recessive 1B; DFNB1B
OMIM:604060 Deafness, Autosomal Recessive 20; DFNB20
OMIM:603629 Deafness, Autosomal Recessive 21; DFNB21
OMIM:607039 Deafness, Autosomal Recessive 22; DFNB22
OMIM:609533 Deafness, Autosomal Recessive 23; DFNB23
OMIM:611022 Deafness, Autosomal Recessive 24; DFNB24
OMIM:613285 Deafness, Autosomal Recessive 25; DFNB25
OMIM:605428 Deafness, Autosomal Recessive 26; DFNB26
OMIM:605429 Deafness, Autosomal Recessive 26, Modifier Of; DFNB26M
OMIM:605818 Deafness, Autosomal Recessive 27; DFNB27
OMIM:609823 Deafness, Autosomal Recessive 28; DFNB28
OMIM:614035 Deafness, Autosomal Recessive 29; DFNB29
OMIM:600060 Deafness, Autosomal Recessive 2; DFNB2
OMIM:607101 Deafness, Autosomal Recessive 30; DFNB30
OMIM:607084 Deafness, Autosomal Recessive 31; DFNB31
OMIM:608653 Deafness, Autosomal Recessive 32, with or without Immotile Sperm;
OMIM:607239 Deafness, Autosomal Recessive 33; DFNB33
OMIM:608565 Deafness, Autosomal Recessive 35; DFNB35
OMIM:609006 Deafness, Autosomal Recessive 36, with or without Vestibular Involvement; DFNB36
OMIM:607821 Deafness, Autosomal Recessive 37; DFNB37
OMIM:608219 Deafness, Autosomal Recessive 38; DFNB38
OMIM:608265 Deafness, Autosomal Recessive 39; DFNB39
OMIM:600316 Deafness, Autosomal Recessive 3; DFNB3
OMIM:608264 Deafness, Autosomal Recessive 40; DFNB40
OMIM:609646 Deafness, Autosomal Recessive 42; DFNB42
OMIM:610154 Deafness, Autosomal Recessive 44; DFNB44
OMIM:612433 Deafness, Autosomal Recessive 45; DFNB45
OMIM:609647 Deafness, Autosomal Recessive 46; DFNB46
OMIM:609946 Deafness, Autosomal Recessive 47; DFNB47
OMIM:609439 Deafness, Autosomal Recessive 48; DFNB48
OMIM:610153 Deafness, Autosomal Recessive 49; DFNB49
OMIM:600791 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct;
OMIM:609941 Deafness, Autosomal Recessive 51; DFNB51
OMIM:609706 Deafness, Autosomal Recessive 53; DFNB53
OMIM:609952 Deafness, Autosomal Recessive 55; DFNB55
OMIM:618003 Deafness, Autosomal Recessive 57; DFNB57
OMIM:610220 Deafness, Autosomal Recessive 59; DFNB59
OMIM:600792 Deafness, Autosomal Recessive 5; DFNB5
OMIM:613865 Deafness, Autosomal Recessive 61; DFNB61
OMIM:610143 Deafness, Autosomal Recessive 62; DFNB62
OMIM:611451 Deafness, Autosomal Recessive 63; DFNB63
OMIM:610248 Deafness, Autosomal Recessive 65; DFNB65
OMIM:610212 Deafness, Autosomal Recessive 66; DFNB66
OMIM:610265 Deafness, Autosomal Recessive 67; DFNB67
OMIM:610419 Deafness, Autosomal Recessive 68; DFNB68
OMIM:600971 Deafness, Autosomal Recessive 6; DFNB6
OMIM:614934 Deafness, Autosomal Recessive 70, with or without Adult-Onset Neurodegeneration; DFNB70
OMIM:612789 Deafness, Autosomal Recessive 71; DFNB71
OMIM:613718 Deafness, Autosomal Recessive 74; DFNB74
OMIM:615540 Deafness, Autosomal Recessive 76; DFNB76
OMIM:613079 Deafness, Autosomal Recessive 77; DFNB77
OMIM:613307 Deafness, Autosomal Recessive 79; DFNB79
OMIM:600974 Deafness, Autosomal Recessive 7; DFNB7
OMIM:613685 Deafness, Autosomal Recessive 83; DFNB83
OMIM:613391 Deafness, Autosomal Recessive 84a; DFNB84A
OMIM:614944 Deafness, Autosomal Recessive 84b; DFNB84B
OMIM:613392 Deafness, Autosomal Recessive 85; DFNB85
OMIM:614617 Deafness, Autosomal Recessive 86; DFNB86
OMIM:615429 Deafness, Autosomal Recessive 88; DFNB88
OMIM:613916 Deafness, Autosomal Recessive 89; DFNB89
OMIM:601072 Deafness, Autosomal Recessive 8; DFNB8
OMIM:613453 Deafness, Autosomal Recessive 91; DFNB91
OMIM:614899 Deafness, Autosomal Recessive 93; DFNB93
OMIM:618434 Deafness, Autosomal Recessive 94; DFNB94
OMIM:614414 Deafness, Autosomal Recessive 96; DFNB96
OMIM:616705 Deafness, Autosomal Recessive 97; DFNB97
OMIM:614861 Deafness, Autosomal Recessive 98; DFNB98
OMIM:618481 Deafness, Autosomal Recessive 99; DFNB99
OMIM:601071 Deafness, Autosomal Recessive 9; DFNB9
OMIM:619354 Deafness, Cataract, Impaired Intellectual Development, and Polyneuropathy; DCIDP
OMIM:300719 Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities
OMIM:124490 Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy
OMIM:221300 Deafness, Conductive, with Malformed External Ear
OMIM:221320 Deafness, Conductive, with Ptosis and Skeletal Anomalies
OMIM:619196 Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy; DEAPLE
OMIM:220300 Deafness, Congenital, and Familial Myoclonic Epilepsy
OMIM:617992 Deafness, Congenital Heart Defects, and Posterior Embryotoxon; DCHE
OMIM:610706 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
OMIM:124480 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant; DDOD
OMIM:220900 Deafness, Congenital, with Total Albinism
OMIM:221350 Deafness, Congenital, with Vitiligo and Achalasia
OMIM:125230 Deafness-Craniofacial Syndrome
OMIM:300475 Deafness, Dystonia, and Cerebral Hypomyelination; DDCH
OMIM:304350 Deafness-Hypogonadism Syndrome
OMIM:611102 Deafness-Infertility Syndrome; DIS
OMIM:124700 Deafness, Mid-Tone Neural
OMIM:221400 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy
OMIM:221500 Deafness, Neural, Congenital Moderate
OMIM:221700 Deafness, Neural, with Atypical Atopic Dermatitis
OMIM:500008 Deafness, Nonsyndromic Sensorineural, Mitochondrial
OMIM:221740 Deafness-Oligodontia Syndrome
OMIM:220500 Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, and Seizures Syndrome; DOORS
OMIM:601449 Deafness, Progressive, with Stapes Fixation
OMIM:221745 Deafness, Sensorineural, Autosomal-Mitochondrial Type
OMIM:124950 Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease
OMIM:125000 Deafness, Unilateral
OMIM:612097 Deafness, Unilateral, with Delayed Endolymphatic Hydrops
OMIM:125050 Deafness with Anhidrotic Ectodermal Dysplasia
OMIM:304500 Deafness, X-Linked 1; DFNX1
OMIM:304400 Deafness, X-Linked 2; DFNX2
OMIM:300030 Deafness, X-Linked 3; DFNX3
OMIM:300066 Deafness, X-Linked 4; DFNX4
OMIM:300614 Deafness, X-Linked 5, with Peripheral Neuropathy; DFNX5
OMIM:300914 Deafness, X-Linked 6; DFNX6
OMIM:301018 Deafness, X-Linked 7; DFNX7
OMIM:400043 Deafness, Y-Linked 1; DFNY1
OMIM:400047 Deafness, Y-Linked 2; DFNY2
OMIM:619004 Deeah Syndrome; DEEAH
OMIM:619488 Degcags Syndrome; DEGCAGS
OMIM:194380 Dehydrated Hereditary Stomatocytosis 1 with or without Pseudohyperkalemia and/or Perinatal Edema; DHS1
OMIM:616689 Dehydrated Hereditary Stomatocytosis 2; DHS2
OMIM:619613 Delayed Puberty, Self-Limited; DPSL
OMIM:614163 Delayed Sleep Phase Disorder, Susceptibility To; DSPD
OMIM:619083 Delpire-Mcneill Syndrome; DELMNES
OMIM:127750 Dementia, Lewy Body; DLB
OMIM:125320 Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques
OMIM:614371 Dengue Virus, Susceptibility to
OMIM:619229 Den Hoed-De Boer-Voisin Syndrome; DHDBV
OMIM:125280 Dens Evaginatus
OMIM:125300 Dens in Dente and Palatal Invaginations
OMIM:601216 Dental Anomalies and Short Stature; DASS
OMIM:125370 Dentatorubral-Pallidoluysian Atrophy; DRPLA
OMIM:300009 Dent Disease 1; DENT1
OMIM:300555 Dent Disease 2; DENT2
OMIM:619877 Dentici-Novelli Neurodevelopmental Syndrome; DENNED
OMIM:125400 Dentin Dysplasia, Type I; DTDP1
OMIM:125420 Dentin Dysplasia, Type II; DTDP2
OMIM:125440 Dentin Dysplasia with Sclerotic Bones
OMIM:125490 Dentinogenesis Imperfecta 1; DGI1
OMIM:125500 Dentinogenesis Imperfecta, Shields Type III
OMIM:194080 Denys-Drash Syndrome; DDS
OMIM:125460 Deoxyribose-5-Phosphate Aldolase Deficiency
OMIM:125540 Dermal Ridges, Patternless
OMIM:603165 Dermatitis, Atopic
OMIM:605803 Dermatitis, Atopic, 2; ATOD2
OMIM:605804 Dermatitis, Atopic, 3; ATOD3
OMIM:605805 Dermatitis, Atopic, 4; ATOD4
OMIM:605844 Dermatitis, Atopic, 5; ATOD5
OMIM:605845 Dermatitis, Atopic, 6; ATOD6
OMIM:613064 Dermatitis, Atopic, 7; ATOD7
OMIM:613518 Dermatitis, Atopic, 8; ATOD8
OMIM:613519 Dermatitis, Atopic, 9; ATOD9
OMIM:601230 Dermatitis Herpetiformis, Familial
OMIM:607907 Dermatofibrosarcoma Protuberans; DFSP
OMIM:221790 Dermatoleukodystrophy
OMIM:221810 Dermatoosteolysis, Kirghizian Type
OMIM:125595 Dermatopathia Pigmentosa Reticularis; DPR
OMIM:125600 Dermatosis Papulosa Nigra
OMIM:221800 Dermochondrocorneal Dystrophy
OMIM:125635 Dermographism, Familial
OMIM:600679 Dermoid Cysts, Familial Frontonasal
OMIM:304730 Dermoids of Cornea; CND
OMIM:125640 Dermoodontodysplasia
OMIM:278800 De Sanctis-Cacchione Syndrome
OMIM:616708 Desanto-Shinawi Syndrome; DESSH
OMIM:251450 Desbuquois Dysplasia 1; DBQD1
OMIM:615777 Desbuquois Dysplasia 2; DBQD2
OMIM:135290 Desmoid Disease, Hereditary; DESMD
OMIM:602398 Desmosterolosis
OMIM:619777 Developmental and Epileptic Encephalopathy 100; DEE100
OMIM:619814 Developmental and Epileptic Encephalopathy 101; DEE101
OMIM:619881 Developmental and Epileptic Encephalopathy 102; DEE102
OMIM:619913 Developmental and Epileptic Encephalopathy 103; DEE103
OMIM:619970 Developmental and Epileptic Encephalopathy 104; DEE104
OMIM:619983 Developmental and Epileptic Encephalopathy 105 with Hypopituitarism;
OMIM:620028 Developmental and Epileptic Encephalopathy 106; DEE106
OMIM:620033 Developmental and Epileptic Encephalopathy 107; DEE107
OMIM:620115 Developmental and Epileptic Encephalopathy 108; DEE108
OMIM:620145 Developmental and Epileptic Encephalopathy 109; DEE109
OMIM:620149 Developmental and Epileptic Encephalopathy 110; DEE110
OMIM:620504 Developmental and Epileptic Encephalopathy 111; DEE111
OMIM:620537 Developmental and Epileptic Encephalopathy 112; DEE112
OMIM:620772 Developmental and Epileptic Encephalopathy 113; DEE113
OMIM:620774 Developmental and Epileptic Encephalopathy 114; DEE114
OMIM:620783 Developmental and Epileptic Encephalopathy 115; DEE115
OMIM:620806 Developmental and Epileptic Encephalopathy 116; DEE116
OMIM:613721 Developmental and Epileptic Encephalopathy 11; DEE11
OMIM:613722 Developmental and Epileptic Encephalopathy 12; DEE12
OMIM:614558 Developmental and Epileptic Encephalopathy 13; DEE13
OMIM:614959 Developmental and Epileptic Encephalopathy 14; DEE14
OMIM:615006 Developmental and Epileptic Encephalopathy 15; DEE15
OMIM:615338 Developmental and Epileptic Encephalopathy 16; DEE16
OMIM:615473 Developmental and Epileptic Encephalopathy 17; DEE17
OMIM:615476 Developmental and Epileptic Encephalopathy 18; DEE18
OMIM:615744 Developmental and Epileptic Encephalopathy 19; DEE19
OMIM:308350 Developmental and Epileptic Encephalopathy 1; DEE1
OMIM:615833 Developmental and Epileptic Encephalopathy 21; DEE21
OMIM:615859 Developmental and Epileptic Encephalopathy 23; DEE23
OMIM:615871 Developmental and Epileptic Encephalopathy 24; DEE24
OMIM:615905 Developmental and Epileptic Encephalopathy 25 with Amelogenesis Imperfecta; DEE25
OMIM:616056 Developmental and Epileptic Encephalopathy 26; DEE26
OMIM:616139 Developmental and Epileptic Encephalopathy 27; DEE27
OMIM:616211 Developmental and Epileptic Encephalopathy 28; DEE28
OMIM:616339 Developmental and Epileptic Encephalopathy 29; DEE29
OMIM:300672 Developmental and Epileptic Encephalopathy 2; DEE2
OMIM:616341 Developmental and Epileptic Encephalopathy 30; DEE30
OMIM:616346 Developmental and Epileptic Encephalopathy 31a; DEE31A
OMIM:620352 Developmental and Epileptic Encephalopathy 31b; DEE31B
OMIM:616366 Developmental and Epileptic Encephalopathy 32; DEE32
OMIM:616409 Developmental and Epileptic Encephalopathy 33; DEE33
OMIM:616645 Developmental and Epileptic Encephalopathy 34; DEE34
OMIM:616647 Developmental and Epileptic Encephalopathy 35; DEE35
OMIM:300884 Developmental and Epileptic Encephalopathy 36; DEE36
OMIM:616981 Developmental and Epileptic Encephalopathy 37; DEE37
OMIM:617020 Developmental and Epileptic Encephalopathy 38; DEE38
OMIM:612949 Developmental and Epileptic Encephalopathy 39 with Leukodystrophy;
OMIM:609304 Developmental and Epileptic Encephalopathy 3; DEE3
OMIM:617065 Developmental and Epileptic Encephalopathy 40; DEE40
OMIM:617105 Developmental and Epileptic Encephalopathy 41; DEE41
OMIM:617106 Developmental and Epileptic Encephalopathy 42; DEE42
OMIM:617113 Developmental and Epileptic Encephalopathy 43; DEE43
OMIM:617132 Developmental and Epileptic Encephalopathy 44; DEE44
OMIM:617153 Developmental and Epileptic Encephalopathy 45; DEE45
OMIM:617162 Developmental and Epileptic Encephalopathy 46; DEE46
OMIM:617166 Developmental and Epileptic Encephalopathy 47; DEE47
OMIM:617276 Developmental and Epileptic Encephalopathy 48; DEE48
OMIM:617281 Developmental and Epileptic Encephalopathy 49; DEE49
OMIM:612164 Developmental and Epileptic Encephalopathy 4; DEE4
OMIM:616457 Developmental and Epileptic Encephalopathy 50; DEE50
OMIM:617339 Developmental and Epileptic Encephalopathy 51; DEE51
OMIM:617350 Developmental and Epileptic Encephalopathy 52; DEE52
OMIM:617389 Developmental and Epileptic Encephalopathy 53; DEE53
OMIM:617391 Developmental and Epileptic Encephalopathy 54; DEE54
OMIM:617599 Developmental and Epileptic Encephalopathy 55; DEE55
OMIM:617665 Developmental and Epileptic Encephalopathy 56; DEE56
OMIM:617771 Developmental and Epileptic Encephalopathy 57; DEE57
OMIM:617830 Developmental and Epileptic Encephalopathy 58; DEE58
OMIM:617904 Developmental and Epileptic Encephalopathy 59; DEE59
OMIM:613477 Developmental and Epileptic Encephalopathy 5; DEE5
OMIM:617929 Developmental and Epileptic Encephalopathy 60; DEE60
OMIM:617933 Developmental and Epileptic Encephalopathy 61; DEE61
OMIM:617938 Developmental and Epileptic Encephalopathy 62; DEE62
OMIM:617976 Developmental and Epileptic Encephalopathy 63; DEE63
OMIM:618004 Developmental and Epileptic Encephalopathy 64; DEE64
OMIM:618008 Developmental and Epileptic Encephalopathy 65; DEE65
OMIM:618067 Developmental and Epileptic Encephalopathy 66; DEE66
OMIM:618141 Developmental and Epileptic Encephalopathy 67; DEE67
OMIM:618201 Developmental and Epileptic Encephalopathy 68; DEE68
OMIM:618285 Developmental and Epileptic Encephalopathy 69; DEE69
OMIM:619317 Developmental and Epileptic Encephalopathy 6b; DEE6B
OMIM:618298 Developmental and Epileptic Encephalopathy 70; DEE70
OMIM:618328 Developmental and Epileptic Encephalopathy 71; DEE71
OMIM:618374 Developmental and Epileptic Encephalopathy 72; DEE72
OMIM:618379 Developmental and Epileptic Encephalopathy 73; DEE73
OMIM:618396 Developmental and Epileptic Encephalopathy 74; DEE74
OMIM:618437 Developmental and Epileptic Encephalopathy 75; DEE75
OMIM:618468 Developmental and Epileptic Encephalopathy 76; DEE76
OMIM:618557 Developmental and Epileptic Encephalopathy 78; DEE78
OMIM:618559 Developmental and Epileptic Encephalopathy 79; DEE79
OMIM:613720 Developmental and Epileptic Encephalopathy 7; DEE7
OMIM:618580 Developmental and Epileptic Encephalopathy 80; DEE80
OMIM:618663 Developmental and Epileptic Encephalopathy 81; DEE81
OMIM:618721 Developmental and Epileptic Encephalopathy 82; DEE82
OMIM:618744 Developmental and Epileptic Encephalopathy 83; DEE83
OMIM:618792 Developmental and Epileptic Encephalopathy 84; DEE84
OMIM:301044 Developmental and Epileptic Encephalopathy 85 with or without Midline Brain Defects; DEE85
OMIM:618910 Developmental and Epileptic Encephalopathy 86; DEE86
OMIM:618916 Developmental and Epileptic Encephalopathy 87; DEE87
OMIM:618959 Developmental and Epileptic Encephalopathy 88; DEE88
OMIM:619124 Developmental and Epileptic Encephalopathy 89; DEE89
OMIM:300607 Developmental and Epileptic Encephalopathy 8; DEE8
OMIM:301058 Developmental and Epileptic Encephalopathy 90; DEE90
OMIM:617711 Developmental and Epileptic Encephalopathy 91; DEE91
OMIM:617829 Developmental and Epileptic Encephalopathy 92; DEE92
OMIM:618012 Developmental and Epileptic Encephalopathy 93; DEE93
OMIM:615369 Developmental and Epileptic Encephalopathy 94; DEE94
OMIM:618143 Developmental and Epileptic Encephalopathy 95; DEE95
OMIM:619340 Developmental and Epileptic Encephalopathy 96; DEE96
OMIM:619561 Developmental and Epileptic Encephalopathy 97; DEE97
OMIM:619605 Developmental and Epileptic Encephalopathy 98; DEE98
OMIM:619606 Developmental and Epileptic Encephalopathy 99; DEE99
OMIM:300088 Developmental and Epileptic Encephalopathy 9; DEE9
OMIM:617836 Developmental Delay and Seizures with or without Movement Abnormalities; DEDSM
OMIM:620065 Developmental Delay, Behavioral Abnormalities, and Neuropsychiatric Disorders; DEDBANP
OMIM:620535 Developmental Delay, Dysmorphic Facies, and Brain Anomalies; DEVDFB
OMIM:620012 Developmental Delay, Hypotonia, and Impaired Language; DEDHIL
OMIM:619595 Developmental Delay, Hypotonia, Musculoskeletal Defects, and Behavioral Abnormalities; DEHMBA
OMIM:619090 Developmental Delay, Impaired Growth, Dysmorphic Facies, and Axonal Neuropathy; DIGFAN
OMIM:619475 Developmental Delay, Impaired Speech, and Behavioral Abnormalities;
OMIM:619964 Developmental Delay, Impaired Speech, and Behavioral Abnormalities, with or without Seizures; DEDISB
OMIM:620141 Developmental Delay, Language Impairment, and Ocular Abnormalities;
OMIM:619228 Developmental Delay with Dysmorphic Facies and Dental Anomalies;
OMIM:620240 Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities; DEDHMB
OMIM:618454 Developmental Delay with or without Dysmorphic Facies and Autism;
OMIM:620540 Developmental Delay with or without Epilepsy; DEVEP
OMIM:619575 Developmental Delay with or without Intellectual Impairment or Behavioral Abnormalities; DDIB
OMIM:616901 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 1; DEDSSH1
OMIM:620062 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2; DEDSSH2
OMIM:620098 Developmental Delay with Variable Intellectual Disability and Dysmorphic Facies; DIDDF
OMIM:618430 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities; DDVIBA
OMIM:619694 Developmental Delay with Variable Neurologic and Brain Abnormalities;
OMIM:142700 Developmental Dysplasia of the Hip 1; DDH1
OMIM:615612 Developmental Dysplasia of the Hip 2; DDH2
OMIM:620690 Developmental Dysplasia of the Hip 3; DDH3
OMIM:610136 Devriendt Syndrome
OMIM:221950 Dextrocardia with Unusual Facies and Microphthalmia
OMIM:220120 D-Glyceric Aciduria
OMIM:520000 Diabetes and Deafness, Maternally Inherited; MIDD
OMIM:620651 Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome;
OMIM:304800 Diabetes Insipidus, Nephrogenic, 1, X-Linked; NDI1
OMIM:125800 Diabetes Insipidus, Nephrogenic, 2, Autosomal; NDI2
OMIM:221995 Diabetes Insipidus, Nephrogenic, with Impaired Intellectual Development and Intracerebral Calcification
OMIM:125700 Diabetes Insipidus, Neurohypophyseal
OMIM:304900 Diabetes Insipidus, Neurohypophyseal, X-Linked
OMIM:605026 Diabetes Mellitus, Congenital Autoimmune
OMIM:610549 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
OMIM:612227 Diabetes Mellitus, Ketosis-Prone; KPD
OMIM:610199 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; NDH
OMIM:606176 Diabetes Mellitus, Permanent Neonatal, 1; PNDM1
OMIM:618856 Diabetes Mellitus, Permanent Neonatal, 2; PNDM2
OMIM:618857 Diabetes Mellitus, Permanent Neonatal, 3; PNDM3
OMIM:618858 Diabetes Mellitus, Permanent Neonatal, 4; PNDM4
OMIM:601410 Diabetes Mellitus, Transient Neonatal, 1; TNDM1
OMIM:610374 Diabetes Mellitus, Transient Neonatal, 2; TNDM2
OMIM:610582 Diabetes Mellitus, Transient Neonatal, 3
OMIM:222350 Diaminopentanuria
OMIM:613309 Diamond-Blackfan Anemia 10; DBA10
OMIM:614900 Diamond-Blackfan Anemia 11; DBA11
OMIM:615550 Diamond-Blackfan Anemia 12; DBA12
OMIM:615909 Diamond-Blackfan Anemia 13; DBA13
OMIM:300946 Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis; DBA14
OMIM:606164 Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis; DBA15
OMIM:617408 Diamond-Blackfan Anemia 16; DBA16
OMIM:617409 Diamond-Blackfan Anemia 17; DBA17
OMIM:618310 Diamond-Blackfan Anemia 18; DBA18
OMIM:618312 Diamond-Blackfan Anemia 19; DBA19
OMIM:105650 Diamond-Blackfan Anemia 1; DBA1
OMIM:618313 Diamond-Blackfan Anemia 20; DBA20
OMIM:620072 Diamond-Blackfan Anemia 21; DBA21
OMIM:606129 Diamond-Blackfan Anemia 2; DBA2
OMIM:610629 Diamond-Blackfan Anemia 3; DBA3
OMIM:612527 Diamond-Blackfan Anemia 4; DBA4
OMIM:612528 Diamond-Blackfan Anemia 5; DBA5
OMIM:612561 Diamond-Blackfan Anemia 6; DBA6
OMIM:612562 Diamond-Blackfan Anemia 7; DBA7
OMIM:612563 Diamond-Blackfan Anemia 8; DBA8
OMIM:613308 Diamond-Blackfan Anemia 9; DBA9
OMIM:617911 Diamond-Blackfan Anemia-Like; DBAL
OMIM:605233 Dianzani Autoimmune Lymphoproliferative Disease
OMIM:608022 Diaphanospondylodysostosis
OMIM:601163 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull
OMIM:222400 Diaphragmatic Hernia 2; DIH2
OMIM:610187 Diaphragmatic Hernia 3; DIH3
OMIM:620025 Diaphragmatic Hernia 4, with Cardiovascular Defects; DIH4
OMIM:306950 Diaphragmatic Hernia 5, X-Linked; DIH5
OMIM:142340 Diaphragmatic Hernia, Congenital
OMIM:112250 Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma;
OMIM:618183 Diarrhea 10, Protein-Losing Enteropathy Type; DIAR10
OMIM:618662 Diarrhea 11, Malabsorptive, Congenital; DIAR11
OMIM:619445 Diarrhea 12, with Microvillus Atrophy; DIAR12
OMIM:620357 Diarrhea 13; DIAR13
OMIM:214700 Diarrhea 1, Secretory Chloride, Congenital; DIAR1
OMIM:251850 Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis;
OMIM:270420 Diarrhea 3, Secretory Sodium, Congenital, with or without Other Congenital Anomalies; DIAR3
OMIM:610370 Diarrhea 4, Malabsorptive, Congenital; DIAR4
OMIM:613217 Diarrhea 5, with Tufting Enteropathy, Congenital; DIAR5
OMIM:614616 Diarrhea 6; DIAR6
OMIM:615863 Diarrhea 7, Protein-Losing Enteropathy Type; DIAR7
OMIM:616868 Diarrhea 8, Secretory Sodium, Congenital; DIAR8
OMIM:618168 Diarrhea 9; DIAR9
OMIM:520100 Diarrhea, Chronic, with Villous Atrophy
OMIM:125890 Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency
OMIM:612198 Diastasis Recti and Weakness of the Linea Alba
OMIM:125900 Diastema, Dental Medial
OMIM:222500 Diastematomyelia
OMIM:222600 Diastrophic Dysplasia; DTD
OMIM:222690 Dibasic Amino Aciduria I
OMIM:222730 Dicarboxylic Aminoaciduria; DCBXA
OMIM:251280 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1; DMJDS1
OMIM:618646 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2; DMJDS2
OMIM:618846 Diets-Jongmans Syndrome; DIJOS
OMIM:137215 Diffuse Gastric and Lobular Breast Cancer Syndrome; DGLBC
OMIM:188400 DiGeorge Syndrome; DGS
OMIM:601362 Digeorge Syndrome/Velocardiofacial Syndrome Complex 2
OMIM:606835 Digital Arthropathy-Brachydactyly, Familial; FDAB
OMIM:119900 Digital Clubbing, Isolated Congenital; DIGC
OMIM:126050 Digitotalar Dysmorphism
OMIM:246900 Dihydrolipoamide Dehydrogenase Deficiency; DLDD
OMIM:222748 Dihydropyrimidinase Deficiency; DPYSD
OMIM:274270 Dihydropyrimidine Dehydrogenase Deficiency; DPYDD
OMIM:126070 Dilution, Pigmentary
OMIM:605850 Dimethylglycine Dehydrogenase Deficiency; DMGDHD
OMIM:620443 Disabling Pansclerotic Morphea of Childhood; DPMC
OMIM:190340 Discoid Fibromas, Familial Multiple; FMDF
OMIM:126180 Discrimination, Two-Point, Reduction in
OMIM:603133 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Impaired Intellectual Development
OMIM:601450 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism
OMIM:613571 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency
OMIM:223200 Disorganization, Mouse, Homolog of
OMIM:126190 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
OMIM:223300 Disseminated Sclerosis with Narcolepsy
OMIM:126250 Distal Osteosclerosis
OMIM:126300 Distichiasis
OMIM:126320 Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
OMIM:223330 Diverticulosis of Bowel, Hernia, and Retinal Detachment
OMIM:223320 Diverticulosis, Small-Intestinal
OMIM:223340 DK Phocomelia Syndrome
OMIM:245450 D-Lactic Aciduria with Gout; DLACD
OMIM:126390 DNA, Low-Repetitive Sequences of
OMIM:126410 DNA, Satellite, Alpha Type
OMIM:126370 DNA, Satellite, III; HS3; D1Z1
OMIM:223350 Dohle Bodies and Leukemia
OMIM:222448 Donnai-Barrow Syndrome; DBS
OMIM:246200 Donohue Syndrome
OMIM:223380 Dopamine Beta-Hydroxylase, Plasma, Thermolability of
OMIM:126500 Double Nail for Fifth Toe
OMIM:179850 Dowling-Degos Disease 1; DDD1
OMIM:615327 Dowling-Degos Disease 2; DDD2
OMIM:615674 Dowling-Degos Disease 3; DDD3
OMIM:615696 Dowling-Degos Disease 4; DDD4
OMIM:190685 Down Syndrome
OMIM:126600 Doyne Honeycomb Retinal Dystrophy; DHRD
OMIM:607208 Dravet Syndrome; DRVT
OMIM:618057 Drug Metabolism, Altered, Ces1-Related
OMIM:618018 Drug Metabolism, Altered, Cyp2c8-Related
OMIM:609535 Drug Metabolism, Poor, Cyp2c19-Related
OMIM:608902 Drug Metabolism, Poor, Cyp2d6-Related
OMIM:607323 Duane-Radial Ray Syndrome; DRRS
OMIM:126800 Duane Retraction Syndrome 1; DURS1
OMIM:604356 Duane Retraction Syndrome 2; DURS2
OMIM:617041 Duane Retraction Syndrome 3 with or without Deafness; DURS3
OMIM:237500 Dubin-Johnson Syndrome; DJS
OMIM:223370 Dubowitz Syndrome
OMIM:223400 Duodenal Atresia
OMIM:126840 Duodenal Ulcer Due to Antral G-Cell Hyperfunction
OMIM:126850 Duodenal Ulcer, Hyperpepsinogenemic I
OMIM:606894 Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery, and Absent Superior Mesenteric Artery
OMIM:126900 Dupuytren Contracture
OMIM:600771 Dwarfism, Familial, with Muscle Spasms
OMIM:127100 Dwarfism, Levi Type
OMIM:223500 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
OMIM:223550 Dwarfism, Proportionate, with Hip Dislocation
OMIM:127200 Dwarfism with Stiff Joints and Ocular Abnormalities
OMIM:126950 Dwarfism with Tall Vertebrae
OMIM:619955 Dworschak-Punetha Neurodevelopmental Syndrome; DWOPNED
OMIM:223800 Dyggve-Melchior-Clausen Disease; DMC
OMIM:304950 Dyggve-Melchior-Clausen Syndrome, X-Linked
OMIM:224000 Dysautonomia-Like Disorder
OMIM:127350 Dyschondrosteosis and Nephritis
OMIM:127400 Dyschromatosis Symmetrica Hereditaria; DSH
OMIM:127500 Dyschromatosis Universalis Hereditaria 1; DUH1
OMIM:612715 Dyschromatosis Universalis Hereditaria 2; DUH2
OMIM:615402 Dyschromatosis Universalis Hereditaria 3; DUH3
OMIM:603529 Dyserythropoiesis, Congenital, with Ultrastructurally Normal Erythroblast Heterochromatin
OMIM:616004 Dysfibrinogenemia, Congenital
OMIM:127550 Dyskeratosis Congenita, Autosomal Dominant 1; DKCA1
OMIM:613989 Dyskeratosis Congenita, Autosomal Dominant 2; DKCA2
OMIM:613990 Dyskeratosis Congenita, Autosomal Dominant 3; DKCA3
OMIM:616553 Dyskeratosis Congenita, Autosomal Dominant 6; DKCA6
OMIM:224230 Dyskeratosis Congenita, Autosomal Recessive 1; DKCB1
OMIM:613987 Dyskeratosis Congenita, Autosomal Recessive 2; DKCB2
OMIM:613988 Dyskeratosis Congenita, Autosomal Recessive 3; DKCB3
OMIM:615190 Dyskeratosis Congenita, Autosomal Recessive 5; DKCB5
OMIM:616353 Dyskeratosis Congenita, Autosomal Recessive 6; DKCB6
OMIM:620133 Dyskeratosis Congenita, Autosomal Recessive 8; DKCB8
OMIM:620040 Dyskeratosis Congenita, Digenic; DKCD
OMIM:305000 Dyskeratosis Congenita, X-Linked; DKCX
OMIM:127600 Dyskeratosis, Hereditary Benign Intraepithelial; HBID
OMIM:616921 Dyskinesia, Limb and Orofacial, Infantile-Onset; IOLOD
OMIM:606703 Dyskinesia with Orofacial Involvement, Autosomal Dominant; DSKOD
OMIM:619647 Dyskinesia with Orofacial Involvement, Autosomal Recessive; DSKOR
OMIM:127700 Dyslexia, Susceptibility to, 1; DYX1
OMIM:600202 Dyslexia, Susceptibility to, 2; DYX2
OMIM:604254 Dyslexia, Susceptibility to, 3; DYX3
OMIM:606896 Dyslexia, Susceptibility to, 5; DYX5
OMIM:606616 Dyslexia, Susceptibility to, 6; DYX6
OMIM:608995 Dyslexia, Susceptibility to, 8; DYX8
OMIM:300509 Dyslexia, Susceptibility to, 9; DYX9
OMIM:224250 Dysmyelination with Jaundice
OMIM:224300 Dysosteosclerosis
OMIM:619345 Dysostosis Multiplex, Ain-Naz Type; DMAN
OMIM:600117 Dysphasia, Familial Developmental
OMIM:127800 Dysplasia Epiphysealis Hemimelica
OMIM:127820 Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas
OMIM:224400 Dyssegmental Dysplasia, Rolland-Desbuquois Type; DDRD
OMIM:224410 Dyssegmental Dysplasia, Silverman-Handmaker Type; DDSH
OMIM:601561 Dyssegmental Dysplasia with Glaucoma
OMIM:213400 Dyssynergia Cerebellaris Myoclonica of Hunt
OMIM:128000 Dystelephalangy
OMIM:159900 Dystonia 11, Myoclonic; DYT11
OMIM:128235 Dystonia 12; DYT12
OMIM:607671 Dystonia 13, Torsion, Autosomal Dominant; DYT13
OMIM:607488 Dystonia 15, Myoclonic; DYT15
OMIM:612067 Dystonia 16; DYT16
OMIM:612406 Dystonia 17, Torsion, Autosomal Recessive; DYT17
OMIM:128100 Dystonia 1, Torsion, Autosomal Dominant; DYT1
OMIM:614588 Dystonia 21; DYT21
OMIM:620456 Dystonia 22, Adult-Onset; DYT22AO
OMIM:620453 Dystonia 22, Juvenile-Onset; DYT22JO
OMIM:614860 Dystonia 23; DYT23
OMIM:615034 Dystonia 24; DYT24
OMIM:615073 Dystonia 25; DYT25
OMIM:616398 Dystonia 26, Myoclonic; DYT26
OMIM:616411 Dystonia 27; DYT27
OMIM:617284 Dystonia 28, Childhood-Onset; DYT28
OMIM:224500 Dystonia 2, Torsion, Autosomal Recessive; DYT2
OMIM:619291 Dystonia 30; DYT30
OMIM:619565 Dystonia 31; DYT31
OMIM:619637 Dystonia 32; DYT32
OMIM:619687 Dystonia 33; DYT33
OMIM:619724 Dystonia 34, Myoclonic; DYT34
OMIM:619921 Dystonia 35, Childhood-Onset; DYT35
OMIM:620427 Dystonia 37, Early-Onset, with Striatal Lesions; DYT37
OMIM:314250 Dystonia 3, Torsion, X-Linked; DYT3
OMIM:128101 Dystonia 4, Torsion, Autosomal Dominant; DYT4
OMIM:602629 Dystonia 6, Torsion; DYT6
OMIM:602124 Dystonia 7, Torsion; DYT7
OMIM:601042 Dystonia 9; DYT9
OMIM:617282 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities; DYTOABG
OMIM:607371 Dystonia-Deafness Syndrome 1; DDS1
OMIM:128230 Dystonia, Dopa-Responsive; DRD
OMIM:612716 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency
OMIM:619681 Dystonia, Early-Onset, and/or Spastic Paraplegia; DYTSPG
OMIM:611284 Dystonia, Focal, Task-Specific; FTSD
OMIM:611694 Dystonia with Cerebellar Atrophy; DYTCA
OMIM:224550 Dystonia with Ringbinden

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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory