OMIM ID | Human 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
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OMIM:224250 |
Dysmyelination with Jaundice
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OMIM:224300 |
Dysosteosclerosis
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OMIM:619345 |
Dysostosis Multiplex, Ain-Naz Type; DMAN
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OMIM:600117 |
Dysphasia, Familial Developmental
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OMIM:127800 |
Dysplasia Epiphysealis Hemimelica
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OMIM:127820 |
Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas
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OMIM:224400 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type; DDRD
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OMIM:224410 |
Dyssegmental Dysplasia, Silverman-Handmaker Type; DDSH
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OMIM:601561 |
Dyssegmental Dysplasia with Glaucoma
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OMIM:213400 |
Dyssynergia Cerebellaris Myoclonica of Hunt
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OMIM:128000 |
Dystelephalangy
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OMIM:159900 |
Dystonia 11, Myoclonic; DYT11
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OMIM:128235 |
Dystonia 12; DYT12
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OMIM:607671 |
Dystonia 13, Torsion, Autosomal Dominant; DYT13
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OMIM:607488 |
Dystonia 15, Myoclonic; DYT15
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OMIM:612067 |
Dystonia 16; DYT16
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OMIM:612406 |
Dystonia 17, Torsion, Autosomal Recessive; DYT17
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OMIM:128100 |
Dystonia 1, Torsion, Autosomal Dominant; DYT1
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OMIM:614588 |
Dystonia 21; DYT21
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OMIM:620456 |
Dystonia 22, Adult-Onset; DYT22AO
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OMIM:620453 |
Dystonia 22, Juvenile-Onset; DYT22JO
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OMIM:614860 |
Dystonia 23; DYT23
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OMIM:615034 |
Dystonia 24; DYT24
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OMIM:615073 |
Dystonia 25; DYT25
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OMIM:616398 |
Dystonia 26, Myoclonic; DYT26
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OMIM:616411 |
Dystonia 27; DYT27
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OMIM:617284 |
Dystonia 28, Childhood-Onset; DYT28
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OMIM:224500 |
Dystonia 2, Torsion, Autosomal Recessive; DYT2
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OMIM:619291 |
Dystonia 30; DYT30
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OMIM:619565 |
Dystonia 31; DYT31
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OMIM:619637 |
Dystonia 32; DYT32
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OMIM:619687 |
Dystonia 33; DYT33
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OMIM:619724 |
Dystonia 34, Myoclonic; DYT34
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OMIM:619921 |
Dystonia 35, Childhood-Onset; DYT35
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OMIM:620427 |
Dystonia 37, Early-Onset, with Striatal Lesions; DYT37
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OMIM:314250 |
Dystonia 3, Torsion, X-Linked; DYT3
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OMIM:128101 |
Dystonia 4, Torsion, Autosomal Dominant; DYT4
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OMIM:602629 |
Dystonia 6, Torsion; DYT6
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OMIM:602124 |
Dystonia 7, Torsion; DYT7
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OMIM:601042 |
Dystonia 9; DYT9
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OMIM:617282 |
Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities; DYTOABG
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OMIM:607371 |
Dystonia-Deafness Syndrome 1; DDS1
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OMIM:128230 |
Dystonia, Dopa-Responsive; DRD
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OMIM:612716 |
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency
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OMIM:619681 |
Dystonia, Early-Onset, and/or Spastic Paraplegia; DYTSPG
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OMIM:611284 |
Dystonia, Focal, Task-Specific; FTSD
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OMIM:611694 |
Dystonia with Cerebellar Atrophy; DYTCA
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OMIM:224550 |
Dystonia with Ringbinden
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