ClinVar Miner

Variants with conflicting interpretations studied for not provided

Coded as:
Minimum review status of the submission for not provided: Y axis collection method of the submission for not provided:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
223874 48217 961 28128 25038 499 4676 51655

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
not provided pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 459 3798 955 66 49 11 7 51 6 82 60
likely pathogenic 2520 28 1653 101 53 0 1 17 1 17 13
uncertain significance 1127 1365 261 12056 3839 3 5 16 3 43 59
likely benign 323 243 14966 52 6887 1 5 15 3 46 31
benign 347 168 8334 19536 164 6 9 23 8 54 28
risk factor 5 3 1 2 1 0 0 2 0 0 2
other 30 11 16 39 27 2 1 24 0 8 0

Condition to condition summary #

Total conditions: 4892
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 22612 179 13675 7995 28 457 20101
not provided 294943 13770 192 4601 10269 51 676 15033
Hereditary cancer-predisposing syndrome 0 14986 205 2633 2723 3 230 5264
Cardiovascular phenotype 0 2915 0 1205 865 2 98 1990
History of neurodevelopmental disorder 0 1164 0 816 447 0 14 1156
Hypertrophic cardiomyopathy 0 599 0 417 476 1 103 971
Dilated Cardiomyopathy, Dominant 0 188 0 324 533 0 3 847
Cardiomyopathy 0 1020 3 401 410 2 37 766
Breast-ovarian cancer, familial 2 0 1436 40 404 427 0 51 663
Limb-Girdle Muscular Dystrophy, Recessive 0 158 0 215 429 0 4 639
Distal myopathy Markesbery-Griggs type 0 107 2 184 338 0 3 522
Myopathy, myofibrillar, 9, with early respiratory failure 0 107 0 184 334 0 4 517
Myopathy, early-onset, with fatal cardiomyopathy 0 103 0 182 333 0 3 514
Breast-ovarian cancer, familial 1 0 869 28 290 298 1 54 463
Hereditary breast and ovarian cancer syndrome 0 1851 41 253 160 0 35 419
Seizures 0 483 0 269 158 0 19 406
Inborn genetic diseases 0 529 2 171 123 1 122 395
Nonsyndromic Hearing Loss, Recessive 0 65 0 95 288 0 3 382
Long QT syndrome 0 362 0 172 153 2 56 370
Lynch syndrome 0 453 81 208 151 0 18 365
Primary ciliary dyskinesia 0 115 0 115 229 0 4 346
Fanconi anemia 0 150 10 186 148 1 7 327
Familial hypercholesterolemia 1 0 89 1 204 168 0 75 325
Thoracic aortic aneurysm and aortic dissection 0 277 0 145 161 0 21 304
Familial cancer of breast 0 984 21 193 85 3 27 298
Emery-Dreifuss muscular dystrophy 0 134 0 189 135 0 0 294
Nonsyndromic Hearing Loss, Dominant 0 70 1 193 85 0 4 270
Arrhythmogenic right ventricular cardiomyopathy 0 91 0 127 145 0 8 269
Retinitis Pigmentosa, Recessive 0 121 4 95 172 0 4 263
Ataxia-telangiectasia syndrome 0 753 0 157 82 0 10 231
Collagen VI-related myopathy 0 80 0 120 122 0 3 231
Joubert syndrome 0 74 2 84 140 0 4 225
Charcot-Marie-Tooth disease, type 2 0 216 0 123 91 0 19 224
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 841 0 41 150 0 21 211
Brugada syndrome 0 211 1 95 78 0 33 199
Malignant hyperthermia susceptibility 0 104 0 110 90 0 0 188
Retinitis pigmentosa-deafness syndrome 0 34 1 48 138 0 2 186
Cerebellar ataxia 0 79 0 109 100 0 0 184
Congenital disorder of glycosylation 0 33 0 32 144 0 3 179
Macular degeneration 0 46 4 115 61 0 3 172
Spinocerebellar Ataxia, Dominant 0 30 0 112 64 0 1 171
Tuberous sclerosis syndrome 0 386 15 103 74 0 0 165
Connective tissue disorder 0 106 0 102 72 0 2 162
Charcot-Marie-Tooth disease 0 65 0 7 34 0 123 158
Familial hypercholesterolemia 0 211 0 109 51 0 4 157
Primary familial hypertrophic cardiomyopathy 0 151 0 61 62 0 40 157
Marfan syndrome 0 111 2 100 38 0 26 156
Myopathy, Central Core 0 119 13 80 67 0 12 156
Bardet-Biedl syndrome 0 75 1 59 94 0 4 154
Spastic Paraplegia, Recessive 0 18 0 38 115 0 0 153
Leigh syndrome 0 58 0 70 66 0 9 145
Neoplasm of the breast 0 107 7 79 66 0 8 145
Primary dilated cardiomyopathy 0 129 0 73 43 0 31 144
Primary Microcephaly, Recessive 0 33 0 36 103 0 1 140
Breast and/or ovarian cancer 0 155 14 76 73 0 11 139
Cystic fibrosis 0 198 2 80 43 3 48 138
Charcot-Marie-Tooth disease type 4 0 139 0 51 77 0 7 134
Familial adenomatous polyposis 1 0 484 32 68 55 1 5 133
Rasopathy 0 250 6 79 40 0 17 132
Romano-Ward syndrome 0 36 0 66 64 1 0 128
Meckel-Gruber syndrome 0 50 1 35 89 0 2 126
Multiminicore Disease 0 76 0 70 66 0 0 126
Neuromuscular disease, congenital, with uniform type 1 fiber 0 79 0 69 67 0 0 126
Autosomal recessive polycystic kidney disease 0 97 0 62 46 0 23 124
Nephronophthisis 0 107 1 41 79 0 4 121
Hereditary nonpolyposis colon cancer 0 1302 13 74 13 0 20 117
Fraser syndrome 1 0 11 0 44 72 0 1 116
Progressive sclerosing poliodystrophy 0 133 0 56 48 0 32 115
Intellectual Disability, Dominant 0 11 0 29 85 0 0 114
Retinitis pigmentosa 0 101 2 56 20 0 49 113
Ehlers-Danlos syndrome, type 7A 0 32 0 71 43 0 0 112
Cohen syndrome 0 39 1 56 55 0 5 111
Catecholaminergic polymorphic ventricular tachycardia 0 114 0 51 52 0 9 110
Jeune thoracic dystrophy 0 44 0 38 59 0 17 110
Holoprosencephaly sequence 0 6 2 72 40 0 0 109
Neurofibromatosis, type 1 0 229 5 63 34 0 17 108
Nemaline Myopathy, Recessive 0 35 0 25 82 0 0 107
Retinitis Pigmentosa, Dominant 0 28 3 64 41 0 1 107
Peroxisome biogenesis disorder 1A (Zellweger) 0 48 0 34 72 0 2 106
Leber congenital amaurosis 0 67 1 40 59 1 2 99
Lynch syndrome I 0 162 16 37 50 0 6 98
Epidermolysis bullosa, junctional 0 5 0 18 79 0 0 97
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 22 0 63 35 0 0 95
Noonan syndrome 0 106 0 65 27 0 5 95
Pheochromocytoma 0 28 0 65 33 0 5 95
Limb-girdle muscular dystrophy, type 2A 0 75 4 55 13 0 26 91
Left ventricular noncompaction cardiomyopathy 0 54 0 49 42 0 2 90
Hypokalemic periodic paralysis 0 38 0 60 34 0 0 89
Mitochondrial complex I deficiency 0 20 0 30 53 0 7 87
Renal dysplasia and retinal aplasia 0 38 0 26 60 0 1 87
Hermansky-Pudlak syndrome 0 10 0 24 62 0 0 86
Schwartz Jampel syndrome type 1 0 31 0 19 66 0 0 84
Monogenic diabetes 0 52 0 36 44 0 4 82
Cone-Rod Dystrophy, Recessive 0 41 4 33 50 0 3 81
Dyssegmental Dysplasia 0 29 0 17 64 0 0 81
Hereditary nonpolyposis colorectal cancer type 5 0 189 8 45 40 0 1 81
Glycogen storage disease, type II 0 104 3 50 13 3 16 79
Short Rib Polydactyly Syndrome 0 22 0 22 56 0 1 79
Spastic paraplegia, autosomal dominant 0 23 0 62 19 0 0 79
Familial hypobetalipoproteinemia 0 7 0 33 43 0 1 76
Spastic ataxia Charlevoix-Saguenay type 0 13 1 32 42 0 3 75
Hereditary diffuse gastric cancer 0 224 3 49 36 0 3 74
Congenital contractural arachnodactyly 0 78 0 55 19 0 2 73
Phenylketonuria 0 241 1 58 4 0 16 73
Familial hypertrophic cardiomyopathy 4 0 50 0 45 14 0 20 71
Maple syrup urine disease 0 25 4 40 19 0 15 71
Congenital ichthyosiform erythroderma 0 1 0 17 53 0 0 70
Li-Fraumeni syndrome 0 137 3 27 23 0 23 70
Stargardt disease 1 0 92 0 35 12 3 31 70
Very long chain acyl-CoA dehydrogenase deficiency 0 26 4 31 15 0 26 70
Early infantile epileptic encephalopathy 0 150 0 21 15 0 36 69
Ectodermal dysplasia skin fragility syndrome 0 15 0 39 31 0 0 69
Ellis-van Creveld syndrome 0 22 0 26 42 0 4 69
Congenital Myasthenic Syndrome, Recessive 0 15 0 29 43 0 0 68
Hereditary sensory and autonomic neuropathy type II 0 22 0 32 39 0 0 68
Lissencephaly, Recessive 0 14 0 22 46 0 0 68
Weill-Marchesani syndrome 0 16 0 41 28 0 0 68
Bethlem myopathy 1 0 283 0 22 24 0 24 67
Seckel syndrome 0 14 0 24 43 0 0 67
Stickler Syndrome, Dominant 0 21 0 31 38 0 0 67
Arrhythmia 0 138 0 41 28 0 6 66
Kabuki syndrome 0 30 0 42 21 0 2 64
Donnai Barrow syndrome 0 6 0 20 43 0 0 63
Lynch syndrome II 0 105 5 35 32 0 6 63
Metachromatic leukodystrophy 0 33 10 45 8 2 6 63
MYH-associated polyposis 0 130 10 33 17 0 12 62
Amyotrophic Lateral Sclerosis, Dominant 0 25 0 47 18 0 1 61
Epidermolysis bullosa, lethal acantholytic 0 16 0 39 23 0 0 61
Hypogonadism with anosmia 0 13 0 42 19 0 3 61
Porencephalic cyst 0 34 0 56 7 0 0 61
Familial hypertrophic cardiomyopathy 1 0 47 0 39 10 0 15 60
Multiple Epiphyseal Dysplasia, Dominant 0 14 0 48 12 0 0 60
Pendred syndrome 0 23 3 32 22 0 6 60
Severe myoclonic epilepsy in infancy 0 90 0 29 27 0 11 60
Skin fragility woolly hair syndrome 0 15 0 38 23 0 0 60
Wilson disease 0 43 3 26 24 0 18 60
Myosclerosis 0 29 0 27 35 0 2 59
Timothy syndrome 0 27 2 32 29 0 1 58
Alport syndrome 0 15 0 20 35 0 2 57
Kabuki syndrome 1 0 32 0 25 28 0 8 57
Xeroderma pigmentosum 0 7 0 15 42 0 0 57
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 0 27 0 35 0 3 27 56
Ectopia lentis 0 16 0 36 21 0 0 56
Galactosylceramide beta-galactosidase deficiency 0 27 0 37 16 1 7 56
Gorlin syndrome 0 26 5 33 24 0 2 56
RYR1-Related Disorders 0 178 0 24 11 0 22 56
Combined oxidative phosphorylation deficiency 0 24 0 15 39 0 1 55
Biotinidase deficiency 0 12 5 35 6 1 20 54
CHARGE association 0 57 0 32 26 0 2 54
Malignant hyperthermia, susceptibility to, 1 0 33 0 16 26 14 8 54
Rare genetic deafness 0 141 0 40 0 0 16 54
APC-Associated Polyposis Disorders 0 16 1 39 19 0 0 53
Limb-girdle muscular dystrophy, type 2B 0 54 0 35 11 0 12 53
Niemann-Pick disease type C1 0 40 5 30 7 0 16 53
Cranioectodermal dysplasia 0 5 0 10 41 0 1 52
Distal spinal muscular atrophy 0 17 0 17 25 0 11 52
Neoplasm of the large intestine 0 34 2 41 0 0 9 51
Renal cell carcinoma, papillary, 1 0 25 11 25 19 0 2 51
Atrial septal defect 0 9 0 16 34 0 0 50
Disorders of Intracellular Cobalamin Metabolism 0 5 0 15 34 0 1 50
Peutz-Jeghers syndrome 0 116 0 32 23 0 2 50
Congenital hypothyroidism 0 3 0 6 43 0 0 49
Microcephaly, normal intelligence and immunodeficiency 0 147 0 27 22 0 3 49
Multiple endocrine neoplasia, type 2a 0 42 9 28 21 0 3 49
Rolandic epilepsy 0 2 0 2 0 0 48 49
Squamous cell carcinoma of the head and neck 0 31 0 39 5 0 7 49
Tuberous sclerosis 2 0 112 9 23 18 0 8 49
Brugada syndrome 1 0 25 0 15 25 0 13 48
Cone-Rod Dystrophy, Dominant 0 31 2 31 15 0 2 48
Dilated cardiomyopathy 0 31 0 30 33 0 4 48
Intellectual Disability, Recessive 0 6 0 10 38 0 0 48
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 133 0 24 6 0 19 48
Adenocarcinoma of stomach 0 15 2 36 1 0 8 47
Hereditary nonpolyposis colorectal cancer type 4 0 89 14 25 20 0 2 47
Lung adenocarcinoma 0 19 3 38 0 0 7 47
Malignant melanoma of skin 0 8 3 38 0 1 6 47
Three M syndrome 0 6 0 10 37 0 0 47
Arthrogryposis multiplex congenita 0 6 0 17 29 0 0 46
Colorectal cancer, susceptibility to, 12 0 271 0 19 26 1 1 46
Deafness, autosomal recessive 1A 0 28 12 30 7 0 9 46
Megaloblastic anemia 0 11 0 5 41 0 0 46
Miyoshi myopathy 0 28 0 4 42 0 2 46
Rubinstein-Taybi syndrome 1 0 17 0 35 8 0 3 46
Cockayne syndrome 0 13 0 19 27 0 0 45
Fibrochondrogenesis 1 0 17 0 23 24 0 0 45
Finnish congenital nephrotic syndrome 0 5 2 26 20 0 3 45
Maturity onset diabetes mellitus in young 0 12 0 35 9 0 1 45
PTEN hamartoma tumor syndrome 0 100 1 27 11 0 12 45
Primary autosomal recessive microcephaly 5 0 42 13 7 26 0 1 45
Progressive familial heart block 0 5 0 18 27 0 0 45
Retinal dystrophy 0 33 0 25 3 2 17 45
Dilated cardiomyopathy 3B 0 10 0 22 21 0 1 44
Elliptocytosis 0 4 0 30 18 0 0 44
Geleophysic dysplasia 0 20 0 34 11 0 0 44
Atypical hemolytic uremic syndrome 0 11 0 35 10 0 0 43
Congenital Muscular Dystrophy, LAMA2-related 0 8 0 9 34 0 0 43
Epidermolysis bullosa junctionalis with pyloric atresia 0 3 1 9 33 0 0 43
Spherocytosis, Recessive 0 2 0 28 19 0 0 43
Stargardt Disease, Recessive 0 28 4 24 20 0 3 43
Acromicric dysplasia 0 15 0 32 11 0 0 42
Chédiak-Higashi syndrome 0 18 1 13 32 0 0 42
Familial dysautonomia 0 19 0 20 22 0 1 42
Familial hemiplegic migraine 0 23 0 29 16 0 0 42
Bloom syndrome 0 37 0 19 25 0 2 41
Familial Mediterranean fever 0 42 2 13 23 0 22 41
Focal cortical dysplasia type II 0 8 5 27 20 0 2 41
MASS syndrome 0 14 0 32 10 0 1 41
Parkinson disease 8, autosomal dominant 0 4 6 20 30 1 5 41
Permanent neonatal diabetes mellitus 0 14 5 29 9 0 0 41
Pitt-Hopkins-like syndrome 0 10 0 12 29 0 0 41
Pseudohypoaldosteronism type 2A 0 20 0 32 12 0 0 41
Smith-Lemli-Opitz syndrome 0 19 8 19 12 0 10 41
Stiff skin syndrome 0 14 0 32 10 0 0 41
Transitional cell carcinoma of the bladder 0 13 3 32 0 0 6 41
Congenital Myasthenic Syndrome, Dominant/Recessive 0 1 0 5 35 0 0 40
Gastrointestinal stroma tumor 0 11 8 21 12 2 0 40
Generalized epilepsy with febrile seizures plus 0 27 0 26 19 0 0 40
Hereditary pyropoikilocytosis 0 3 0 28 16 0 0 40
Malignant neoplasm of body of uterus 0 12 4 32 0 0 5 40
Multiple endocrine neoplasia 0 8 4 25 16 0 1 40
Neuroblastoma 0 11 0 26 13 0 2 40
Renal carnitine transport defect 0 23 0 27 6 0 13 40
Spherocytosis, Dominant 0 4 1 25 14 0 0 40
Autism spectrum disorder 0 55 0 27 8 5 2 39
Cardio-facio-cutaneous syndrome 0 28 0 32 7 0 0 39
Familial cold autoinflammatory syndrome 0 17 0 31 10 0 0 39
Familial hemophagocytic lymphohistiocytosis 0 1 0 7 32 0 1 39
Hepatocellular carcinoma 0 17 4 29 1 0 7 39
Hereditary hemorrhagic telangiectasia type 1 0 21 0 23 15 0 3 39
Myofibrillar Myopathy, Dominant 0 23 0 27 15 0 0 39
Ovarian Neoplasms 0 114 2 35 0 0 3 39
Rett syndrome 0 70 0 20 9 0 15 39
See cases 0 82 4 2 15 0 20 39
Severe Combined Immune Deficiency 0 3 0 12 27 0 0 39
WFS1-Related Spectrum Disorders 0 7 1 33 9 0 2 39
beta Thalassemia 0 53 6 26 4 0 5 39
Cerebrooculofacioskeletal Syndrome 0 11 0 18 21 0 0 38
Choreoacanthocytosis 0 4 0 19 23 0 0 38
Citrullinemia type I 0 10 0 19 12 0 12 38
Dyskeratosis Congenita, Recessive 0 8 0 21 17 0 0 38
Ehlers-Danlos syndrome, type 4 0 43 0 26 13 0 1 38
Freeman-Sheldon syndrome 0 0 0 15 23 0 0 38
Glycogen storage disease type III 0 24 8 22 12 0 1 38
Medium-chain acyl-coenzyme A dehydrogenase deficiency 0 25 0 23 3 0 19 38
Microcephalic Osteodysplastic Primordial Dwarfism 0 7 0 14 24 0 0 38
Osteopetrosis 0 2 0 9 29 0 0 38
Pontoneocerebellar hypoplasia 0 20 0 12 24 0 3 38
Sanfilippo syndrome 0 13 0 10 28 0 0 38
Squamous cell lung carcinoma 0 13 0 29 0 0 9 38
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 39 0 23 13 0 4 38
von Willebrand disorder 0 52 0 26 7 0 6 38
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 0 6 0 8 29 0 0 37
Fabry disease 0 54 0 21 8 1 13 37
Loeys-Dietz syndrome 0 22 0 19 18 0 2 37
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 0 1 0 19 20 0 0 37
Retinoblastoma 0 18 2 20 18 0 2 37
Charcot-Marie-Tooth, Intermediate 0 14 0 22 15 0 0 36
Colorectal cancer 10 0 185 0 24 17 0 0 36
Congenital cataract 0 16 0 12 24 0 0 36
Familial atrial fibrillation 0 12 0 22 16 0 0 36
Neuropathy, hereditary sensory and autonomic, type VI 0 2 0 12 26 0 0 36
Non-ketotic hyperglycinemia 0 14 3 17 19 0 3 36
Noonan syndrome with multiple lentigines 0 7 5 20 11 0 1 36
Acute myeloid leukemia 0 8 0 30 4 0 2 35
Autosomal recessive cerebellar ataxia 0 17 0 14 20 0 1 35
Coffin-Siris syndrome 0 15 0 26 11 0 0 35
Duchenne muscular dystrophy 0 183 0 16 17 0 7 35
Glycogen storage disease, type V 0 13 0 11 19 0 5 35
Merosin deficient congenital muscular dystrophy 0 31 2 20 8 0 6 35
Morquio syndrome 0 13 0 17 17 0 1 35
Myopathy, distal, 1 0 34 0 21 15 0 2 35
Neuroblastoma Susceptibility 0 17 0 27 8 0 0 35
Neuronal Ceroid-Lipofuscinosis, Recessive 0 13 0 11 24 0 0 35
Charcot-Marie-Tooth disease, type I 0 29 0 20 9 0 7 34
Marshall syndrome 0 8 0 20 16 0 0 34
Multiple myeloma 0 5 0 34 0 0 0 34
Osteogenesis Imperfecta, Dominant 0 4 0 17 18 0 0 34
Paramyotonia congenita of von Eulenburg 0 19 0 24 13 0 1 34
Potassium aggravated myotonia 0 17 0 25 13 0 0 34
Propionyl-CoA carboxylase deficiency 0 8 5 13 15 0 4 34
Spinal muscular atrophy 0 7 0 5 27 0 2 34
Alternating hemiplegia of childhood 0 6 0 20 14 0 0 33
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 66 0 21 9 0 4 33
Dystrophic epidermolysis bullosa 0 4 0 3 30 0 1 33
Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 0 241 0 1 32 0 0 33
FLNB-Related Spectrum Disorders 0 5 0 23 10 0 0 33
Hyperkalemic Periodic Paralysis 0 12 0 24 13 0 0 33
Myosin storage myopathy 0 30 0 20 15 0 1 33
Nemaline myopathy 2 0 84 0 19 11 0 5 33
Alport syndrome 1, X-linked recessive 0 34 9 15 9 0 4 32
Bare lymphocyte syndrome 2 0 5 0 7 24 0 1 32
Familial Atypical Mycobacteriosis, Autosomal Recessive 0 1 0 11 21 0 0 32
Focal segmental glomerulosclerosis 0 18 0 28 4 0 0 32
Glioblastoma 0 14 0 26 0 1 5 32
Juvenile Polyposis 0 5 1 19 14 0 0 32
Neoplasm of brain 0 16 0 28 0 0 5 32
Oligodontia-colorectal cancer syndrome 0 81 0 21 15 0 0 32
Paroxysmal familial ventricular fibrillation 0 5 0 12 20 0 0 32
Scapuloperoneal myopathy 0 28 0 19 15 0 1 32
Sick sinus syndrome 0 5 0 12 20 0 0 32
Spastic paraplegia 11, autosomal recessive 0 32 14 17 4 0 4 32
Treacher Collins Syndrome, Dominant 0 1 0 29 3 0 0 32
Brachydactyly 0 17 0 22 9 0 0 31
Cutis laxa, recessive 0 10 0 7 24 0 0 31
Ehlers-Danlos syndrome, classic type 0 142 0 7 16 0 9 31
Familial colorectal cancer 0 18 0 1 19 10 2 31
Fanconi anemia, complementation group A 0 36 1 17 12 0 5 31
Fumarase deficiency 0 38 5 15 4 0 13 31
Hereditary pancreatitis 0 18 2 13 8 2 13 31
Hirschsprung Disease, Dominant 0 2 0 23 12 0 0 31
I cell disease 0 3 8 9 14 0 1 31
Multiple endocrine neoplasia, type 1 0 50 3 21 6 0 4 31
Myotonia congenita 0 10 10 14 6 0 4 31
Ovarian Serous Cystadenocarcinoma 0 17 0 25 0 0 6 31
Pancreatic adenocarcinoma 0 17 1 25 0 0 6 31
Renal hypodysplasia/aplasia 1 0 1 0 22 12 0 0 31
Thyroid dyshormonogenesis 0 2 0 2 29 0 0 31
Achondrogenesis 0 7 0 17 13 0 0 30
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 0 11 0 24 8 0 0 30
Brain small vessel disease with hemorrhage 0 10 0 25 7 0 0 30
Carcinoma of esophagus 0 17 1 23 0 0 6 30
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 6 0 10 20 0 0 30
Congenital adrenal hyperplasia 0 11 1 12 18 0 0 30
Epilepsy, focal, with speech disorder and with or without mental retardation 0 27 0 17 14 0 3 30
Fanconi anemia, complementation group J 0 56 0 22 8 0 1 30
Hyper-IgE syndrome 0 7 0 13 17 0 0 30
Kleefstra syndrome 1 0 24 0 17 16 0 0 30
Venous thrombosis 0 3 0 6 23 1 0 30
Werner syndrome 0 19 0 10 20 0 1 30
Aortic aneurysm, familial thoracic 4 0 58 0 14 15 0 2 29
Benign familial neonatal-infantile seizures 0 14 0 19 11 0 1 29
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 0 21 0 21 6 0 3 29
Cholestanol storage disease 0 11 14 13 9 0 2 29
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 0 71 0 17 0 1 16 29
Familial Candidiasis, Recessive 0 1 0 3 26 0 0 29
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 0 16 0 14 15 0 0 29
Hyperinsulinism, Dominant/Recessive 0 12 0 22 9 0 0 29
Marles Greenberg Persaud syndrome 0 3 0 14 15 0 0 29
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 0 15 0 10 19 0 0 29
Occult macular dystrophy 0 10 1 14 16 1 3 29
Waardenburg syndrome 0 1 0 24 6 0 0 29
Breast-ovarian cancer, familial 4 0 84 0 11 11 2 4 28
CFTR-related disorders 0 14 0 10 2 0 21 28
Cone dystrophy 3 0 6 0 12 17 0 1 28
Deficiency of butyryl-CoA dehydrogenase 0 4 0 13 2 0 17 28
Familial dilated cardiomyopathy 0 29 0 7 16 0 6 28
Familial hypokalemia-hypomagnesemia 0 12 1 10 15 0 5 28
Floating-Harbor syndrome 0 14 2 21 6 0 0 28
Glutaric aciduria, type 1 0 12 0 17 2 0 10 28
Homocystinuria due to CBS deficiency 0 28 0 25 1 0 5 28
Inherited Erythromelalgia 0 23 0 17 16 0 0 28
Long QT syndrome 1 0 45 0 15 5 0 8 28
MYH9-related disorder 0 15 0 21 9 0 0 28
Mitochondrial DNA depletion syndrome 0 18 0 10 17 0 1 28
Neoplasm of ovary 0 49 0 22 6 0 2 28
Nephrotic syndrome 0 7 0 8 20 0 0 28
Nonsyndromic Hearing Loss, Mixed 0 7 0 13 15 0 0 28
Osteogenesis Imperfecta, Recessive 0 10 0 11 17 0 0 28
Pol III-related leukodystrophy 0 1 0 6 22 0 0 28
Pseudoxanthoma elasticum 0 18 1 14 1 0 19 28
Pyruvate dehydrogenase complex deficiency 0 22 0 10 18 0 0 28
Transient Neonatal Diabetes, Dominant 0 12 0 22 8 0 0 28
desflurane response - Toxicity/ADR 0 12 0 0 0 28 0 28
enflurane response - Toxicity/ADR 0 12 0 0 0 28 0 28
halothane response - Toxicity/ADR 0 12 0 0 0 28 0 28
isoflurane response - Toxicity/ADR 0 12 0 0 0 28 0 28
methoxyflurane response - Toxicity/ADR 0 12 0 0 0 28 0 28
sevoflurane response - Toxicity/ADR 0 12 0 0 0 28 0 28
succinylcholine response - Toxicity/ADR 0 12 0 0 0 28 0 28
Achromatopsia 0 17 0 4 19 0 4 27
Crohn disease 0 12 0 15 12 0 0 27
Dilated cardiomyopathy 1G 0 15 0 18 9 0 5 27
Juvenile polyposis syndrome 0 115 5 12 14 0 4 27
Multiple fibrofolliculomas 0 55 5 12 11 0 3 27
Paroxysmal extreme pain disorder 0 24 0 16 15 0 1 27
Budd-Chiari syndrome 0 2 0 7 19 0 0 26
CDH23-Related Disorders 0 11 0 1 25 0 0 26
Congenital Indifference to Pain 0 24 0 15 15 0 0 26
Cornelia de Lange Syndrome 0 4 0 23 3 0 0 26
Dementia, Deafness, and Sensory Neuropathy 0 12 0 13 14 0 0 26
Familial febrile seizures 0 23 0 15 15 0 0 26
Fanconi anemia, complementation group C 0 18 0 17 11 0 1 26
Hereditary insensitivity to pain with anhidrosis 0 12 1 10 15 0 0 26
Mononeuropathy of the Median Nerve 0 5 0 7 19 0 0 26
Multiple endocrine neoplasia, type 2b 0 18 5 15 7 0 1 26
Neurofibromatosis-Noonan syndrome 0 2 0 17 10 0 0 26
Robinow syndrome, autosomal dominant 1 0 9 0 14 12 0 0 26
Small fiber neuropathy 0 23 0 15 15 0 2 26
Thrombophilia due to activated protein C resistance 0 2 0 6 20 0 0 26
Usher syndrome, type 2A 0 26 0 18 6 1 3 26
Adenocarcinoma of prostate 0 9 4 17 0 0 5 25
Alstrom syndrome 0 82 0 6 16 0 5 25
Blau syndrome 0 22 0 13 12 0 1 25
Café-au-lait macules with pulmonary stenosis 0 2 0 16 10 0 0 25
Congenital Stationary Night Blindness, Dominant 0 10 1 23 4 0 0 25
Congenital hyperammonemia, type I 0 9 0 8 17 0 1 25
Dilated cardiomyopathy 1DD 0 44 1 10 12 0 5 25
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 4 0 12 13 0 0 25
Familial restrictive cardiomyopathy 0 3 0 13 11 0 1 25
Glycogen phosphorylase kinase deficiency 0 5 0 6 19 0 0 25
Greig cephalopolysyndactyly syndrome 0 8 0 17 8 0 1 25
Hyperinsulinism, Dominant 0 1 0 16 9 0 0 25
Neurofibromatosis, familial spinal 0 1 0 16 10 0 0 25
POLG-Related Spectrum Disorders 0 7 0 10 11 0 6 25
Progressive familial intrahepatic cholestasis 0 13 0 11 14 0 0 25
Pyruvate carboxylase deficiency 0 6 1 4 15 0 6 25
Stickler Syndrome, Recessive 0 9 0 20 5 0 0 25
Ataxia with Oculomotor Apraxia 0 12 0 15 10 0 1 24
Ciliary dyskinesia, primary, 3 0 11 1 12 9 0 3 24
Congenital Stationary Night Blindness, Recessive 0 13 0 8 16 0 0 24
Curry-Hall syndrome 0 15 0 17 8 0 0 24
Dystonia 12 0 11 0 15 7 0 2 24
Ehlers-Danlos syndrome dermatosparaxis type 0 23 0 3 21 0 0 24
Factor V deficiency 0 3 0 6 18 0 0 24
Frontotemporal dementia 0 30 0 20 4 0 1 24
Jervell and Lange-Nielsen syndrome 0 9 0 19 7 1 0 24
Methylmalonic acidemia 0 15 0 4 20 0 0 24
Niemann-Pick disease, type A 0 19 0 14 3 0 8 24
Usher syndrome 0 22 0 11 5 0 10 24
Von Hippel-Lindau syndrome 0 54 0 13 7 0 8 24
Weaver syndrome 0 10 0 20 4 0 0 24
Autosomal recessive congenital ichthyosis 1 0 8 0 18 3 0 3 23
Congenital disorder of glycosylation, type Ia 0 6 8 13 2 0 4 23
Congenital dyserythropoietic anemia 0 2 0 6 17 0 0 23
Corneal Dystrophy, Recessive 0 0 0 6 16 0 1 23
Deafness, autosomal recessive 77 0 14 0 14 10 0 1 23
Early-Onset Familial Alzheimer Disease 0 0 0 12 11 0 0 23
Familial cancer of breast; Fanconi anemia, complementation group J 0 236 0 11 7 0 5 23
Gaze palsy, familial horizontal, with progressive scoliosis 1 0 2 0 2 21 0 0 23
Hyperaldosteronism, familial, type I 0 10 0 22 1 0 0 23
Malignant Melanoma Susceptibility 0 2 0 19 3 0 7 23
Mowat-Wilson syndrome 0 20 0 16 8 0 1 23
Mucolipidosis, Type III Alpha/Beta 0 3 0 9 14 0 0 23
Mucopolysaccharidosis type VI 0 8 0 9 7 0 7 23
Multiple pterygium syndrome Escobar type 0 5 0 2 21 0 0 23
Non-syndromic X-linked intellectual disability 0 5 0 18 7 0 0 23
Pallister-Hall syndrome 0 6 0 16 8 0 0 23
Parkinson disease 9 0 11 0 10 14 0 1 23
Polydactyly 0 7 0 16 8 0 0 23
Primary hyperoxaluria 0 4 0 8 15 0 0 23
Pyogenic arthritis, pyoderma gangrenosum and acne 0 9 0 18 6 0 0 23
Retinitis pigmentosa 25 0 17 0 16 8 0 1 23
Segawa syndrome, autosomal recessive 0 8 1 11 13 0 0 23
Tay-Sachs disease 0 16 0 12 8 2 3 23
Type II Collagenopathies 0 4 0 8 15 0 0 23
Uterine Carcinosarcoma 0 11 0 20 0 0 3 23
ivacaftor response - Efficacy 0 1 0 0 0 23 0 23
short QT syndrome 0 10 0 17 8 0 0 23
Aicardi Goutieres syndrome 0 10 0 12 12 0 1 22
Brittle cornea syndrome 1 0 24 0 3 18 0 1 22
Congenital Muscular Dystrophy, ITGA7-related 0 4 0 0 22 0 0 22
Deficiency of alpha-mannosidase 0 5 0 12 10 0 0 22
Distal spinal muscular atrophy, congenital nonprogressive 0 23 0 20 2 0 1 22
Familial isolated hypoparathyroidism 0 7 0 14 9 0 0 22
Laryngoonychocutaneous syndrome 0 2 0 4 18 0 0 22
Li-Fraumeni syndrome 1 0 53 1 8 10 0 5 22
Niemann-Pick disease, type C 0 17 0 8 12 0 2 22
Primary hyperoxaluria, type I 0 6 0 6 17 0 3 22
Adrenoleukodystrophy 0 27 0 15 5 0 4 21
Arteriohepatic dysplasia 0 6 0 14 8 0 1 21
Bardet-Biedl syndrome 1 0 33 0 18 4 0 1 21
Centronuclear Myopathy, Dominant 0 6 0 14 8 0 0 21
Craniosynostosis 0 18 0 17 3 0 1 21
Dilated cardiomyopathy 1JJ 0 33 0 13 8 0 0 21
Distal hereditary motor neuronopathy 0 8 0 17 8 0 0 21
Epilepsy 0 8 0 15 7 0 2 21
Epileptic encephalopathy 0 25 0 12 8 0 4 21
GNE myopathy 0 18 3 12 3 0 5 21
Hereditary Multiple Osteochondromatosis 0 8 0 18 5 0 0 21
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 20 4 11 1 0 6 21
Heterotaxia 0 6 0 15 5 0 1 21
Infantile cortical hyperostosis 0 4 1 8 12 0 0 21
Junctional epidermolysis bullosa gravis of Herlitz 0 6 3 13 5 0 1 21
KCNQ2-Related Disorders 0 10 0 15 6 0 0 21
Limb-girdle muscular dystrophy, type 2D 0 24 0 13 3 0 5 21
Long QT syndrome 2 0 25 0 7 9 1 7 21
Metatrophic dysplasia 0 21 0 20 2 0 0 21
Neoplasm 0 1 0 16 0 0 5 21
Neuronal ceroid lipofuscinosis 0 121 0 10 6 0 6 21
Pfeiffer syndrome 0 11 0 18 3 0 0 21
Pseudohypoaldosteronism type 1 autosomal recessive 0 15 0 17 4 0 0 21
Spondylometaphyseal dysplasia 0 23 0 19 2 0 1 21
Supravalvar aortic stenosis 0 15 0 15 5 0 1 21
Alpha-1-antitrypsin deficiency 0 8 0 6 8 2 6 20
Amyloidogenic transthyretin amyloidosis 0 20 0 8 8 0 7 20
Arterial tortuosity syndrome 0 19 0 9 11 0 4 20
Brachyolmia 0 20 0 19 2 0 0 20
Combined oxidative phosphorylation deficiency 14 0 6 0 9 5 0 9 20
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 0 29 0 12 0 0 9 20
Diarrhea with Microvillus Atrophy 0 0 0 4 16 0 0 20
Dilated cardiomyopathy 1KK 0 57 0 9 11 0 4 20
Enlarged vestibular aqueduct 0 6 2 8 1 12 3 20
Hereditary hemochromatosis 0 12 0 6 12 2 1 20
Hereditary spastic paraplegia 0 7 0 7 12 0 1 20
Hirschsprung disease 1 0 1 0 1 12 4 4 20
Hyperinsulinemic hypoglycemia, familial, 1 0 13 0 13 5 0 2 20
Idiopathic fibrosing alveolitis, chronic form 0 10 2 16 3 0 0 20
Isolated Nonsyndromic Congenital Heart Disease 0 6 0 13 8 0 1 20
Liver failure acute infantile 0 8 0 10 9 0 1 20
Majeed syndrome 0 14 1 7 16 0 1 20
Mitochondrial trifunctional protein deficiency 0 5 0 6 14 0 0 20
Primary pulmonary hypertension 0 19 0 11 7 0 3 20
Pulmonary Surfactant Metabolism Dysfunction, Recessive 0 2 0 6 14 0 0 20
Renal dysplasia 0 8 0 9 10 0 1 20
Scapuloperoneal spinal muscular atrophy 0 23 0 19 2 0 0 20
Sitosterolemia 0 10 0 5 13 1 1 20
Sphingomyelin/cholesterol lipidosis 0 8 0 7 13 0 0 20
Thrombocytopenia 0 1 0 13 6 0 2 20
Alport syndrome, autosomal recessive 0 19 0 10 1 0 9 19
Bifunctional peroxisomal enzyme deficiency 0 6 0 10 7 0 2 19
Diamond-Blackfan anemia 0 4 0 16 3 0 0 19
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 0 24 0 8 0 0 11 19
Gaucher disease 0 2 12 5 0 0 4 19
Generalized epilepsy and paroxysmal dyskinesia 0 7 0 10 10 0 1 19
Glycogen storage disease of heart, lethal congenital 0 17 0 7 11 0 1 19
Histiocytic medullary reticulosis 0 3 0 6 13 0 1 19
Hurler syndrome 0 15 1 9 9 2 2 19
Hypophosphatemic Rickets, Recessive 0 0 0 9 10 0 0 19
Macular dystrophy 0 12 0 15 1 0 5 19
Mucopolysaccharidosis type I 0 21 0 7 8 3 1 19
Multiple cutaneous leiomyomas 0 27 0 11 4 0 4 19
Phytanic acid storage disease 0 10 0 8 14 0 1 19
Pitt-Hopkins-like syndrome 1 0 69 0 7 12 0 0 19
Pleuropulmonary blastoma 0 8 0 18 6 0 0 19
Rhizomelic chondrodysplasia punctata 0 10 0 7 12 0 0 19
Squamous cell carcinoma of the skin 0 5 0 16 0 0 3 19
Tumor susceptibility linked to germline BAP1 mutations 0 19 0 14 7 0 0 19
Walker-Warburg congenital muscular dystrophy 0 65 0 8 7 0 4 19
Acrocallosal syndrome, Schinzel type 0 4 0 6 10 0 2 18
Charcot-Marie-Tooth Neuropathy X 0 25 0 7 1 0 10 18
Coenzyme Q10 deficiency, primary 0 3 0 4 14 0 0 18
Congenital generalized lipodystrophy 0 2 0 9 10 0 0 18
Dystonia 0 21 0 14 5 0 2 18
Ehlers-Danlos syndrome, hydroxylysine-deficient 0 16 0 5 13 0 0 18
Familial cancer of breast; Ataxia-telangiectasia syndrome 0 67 0 4 14 0 0 18
Glutaric aciduria, type 2 0 15 0 6 6 0 6 18
Hereditary diffuse leukoencephalopathy with spheroids 0 10 0 17 1 0 0 18
Idiopathic hypereosinophilic syndrome 0 4 1 12 7 0 0 18
Insulin-resistant diabetes mellitus AND acanthosis nigricans 0 3 0 13 5 0 0 18
Isovaleryl-CoA dehydrogenase deficiency 0 4 0 9 4 0 5 18
Limb-girdle muscular dystrophy, type 2J 0 6 0 7 7 0 4 18
Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 0 7 0 0 18 0 0 18
Maturity-onset diabetes of the young, type 2 0 19 2 11 1 0 4 18
Medulloblastoma 0 3 2 5 7 0 4 18
Mesangiocapillary glomerulonephritis, type II 0 4 0 14 4 0 0 18
Mucolipidosis type IV 0 1 0 11 7 0 0 18
Netherton syndrome 0 8 0 12 8 0 0 18
Ornithine carbamoyltransferase deficiency 0 37 0 11 2 0 7 18
Pyridoxine-dependent epilepsy 0 24 0 7 7 0 5 18
Retinitis pigmentosa 39 0 24 0 15 1 0 5 18
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 189 0 0 17 0 1 18
Stargardt disease 0 30 0 11 0 1 9 18
Tuberous sclerosis 1 0 53 2 7 10 0 2 18
Usher syndrome, type 1 0 7 0 9 0 0 10 18
Xanthinuria 0 0 0 3 15 0 0 18
Age-related cortical cataract 0 13 0 16 1 0 0 17
Amyotrophic Lateral Sclerosis, Recessive 0 3 0 9 8 0 0 17
Ataxia-telangiectasia-like disorder 1 0 23 0 12 7 0 3 17
Atypical Gaucher Disease 0 8 0 16 1 0 0 17
Breast cancer, susceptibility to 0 4 0 4 1 13 1 17
Cardiac arrhythmia 0 17 0 8 7 0 3 17
Chronic infantile neurological, cutaneous and articular syndrome 0 9 0 13 5 0 0 17
Colorectal cancer 0 15 0 4 11 1 2 17
Combined saposin deficiency 0 8 0 16 1 0 0 17
Cutis laxa, autosomal dominant 0 7 0 11 5 0 1 17
Deficiency of ferroxidase 0 0 1 6 11 0 2 17
Dubin-Johnson syndrome 0 13 0 7 8 0 3 17
Dysferlinopathy 0 116 0 9 3 0 5 17
Early infantile epileptic encephalopathy 10 0 6 0 6 11 0 2 17
Familial adenomatous polyposis 0 34 3 10 5 1 4 17
Familial amyloid nephropathy with urticaria AND deafness 0 10 0 13 5 0 0 17
Familial partial lipodystrophy 0 7 0 10 9 0 0 17
Familial platelet disorder with associated myeloid malignancy 0 17 0 13 3 0 2 17
Fanconi anemia, complementation group J; Neoplasm of ovary 0 56 0 9 5 0 3 17
Fanconi anemia, complementation group O 0 100 0 10 3 0 5 17
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 0 3 0 6 11 0 1 17
GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 0 4 0 10 2 0 5 17
Glycogen storage disease, type VI 0 5 1 6 7 0 3 17
Juvenile myoclonic epilepsy 0 7 0 3 13 0 1 17
Leukocyte adhesion deficiency 0 1 0 5 12 0 1 17
Leukoencephalopathy with vanishing white matter 0 11 0 10 4 0 3 17
Limb-Girdle Muscular Dystrophy, Dominant 0 11 0 12 5 0 0 17
Mitochondrial complex III deficiency, nuclear type 1 0 5 0 7 8 0 3 17
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 0 3 0 1 16 0 0 17
Optic Atrophy, Dominant 0 7 0 12 5 0 1 17
Osteogenesis imperfecta 0 8 1 12 4 0 1 17
Pierson syndrome 0 0 0 3 14 0 0 17
Pigmented paravenous chorioretinal atrophy 0 6 0 11 6 0 1 17
Primary Microcephaly 2 With or Without Cortical Malformations 0 9 0 1 16 0 0 17
Primary congenital glaucoma 0 1 0 3 13 1 0 17
Sandhoff disease 0 9 0 10 4 1 2 17
Schinzel-Giedion syndrome 0 9 0 14 3 0 1 17
Spastic paraplegia 7 0 19 0 12 1 0 5 17
Syndromic intellectual disability 0 15 0 13 4 0 0 17
Upshaw-Schulman syndrome 0 6 0 8 8 0 2 17
Warburg micro syndrome 0 4 0 4 13 0 0 17
Wolff-Parkinson-White syndrome 0 3 0 7 10 0 0 17
Adams-Oliver syndrome 0 9 0 14 2 0 0 16
Alexander Disease 0 80 0 14 2 0 1 16
Angelman syndrome 0 20 0 3 10 0 3 16
Antenatal Bartter Syndrome 0 0 1 8 7 0 0 16
Aplastic anemia 0 6 0 10 2 0 5 16
C3 deficiency 0 3 0 14 3 0 0 16
Ceroid lipofuscinosis neuronal 1 0 6 5 11 2 0 0 16
Ceroid lipofuscinosis neuronal 2 0 9 2 9 1 0 4 16
Cholestasis, progressive familial intrahepatic 1 0 12 0 6 6 0 6 16
Chronic lymphocytic leukemia 0 5 0 14 0 0 3 16
Dilated cardiomyopathy 1A 0 13 3 10 3 0 2 16
Glycogen storage disease, type IV 0 6 3 6 6 0 1 16
Hereditary motor and sensory neuropathy 0 3 0 12 6 0 0 16
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 0 3 0 8 8 0 1 16
Leprechaunism syndrome 0 3 0 11 4 0 1 16
Liddle syndrome 1 0 15 0 13 3 0 0 16
Long QT syndrome 11 0 18 0 8 9 0 1 16
Metaphyseal chondrodysplasia 0 7 0 14 2 0 0 16
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 0 9 2 11 3 0 5 16
Mitochondrial complex II deficiency 0 3 0 14 2 0 1 16
Mitochondrial myopathy and sideroblastic anemia 0 1 0 5 11 0 0 16
Mucopolysaccharidosis, MPS-III-A 0 11 0 11 0 0 6 16
Nijmegen breakage syndrome-like disorder 0 22 0 7 10 0 0 16
Obesity 0 2 0 8 6 2 3 16
Parkinson Disease, Dominant 0 0 0 9 8 0 0 16
Polycystic kidney disease, adult type 0 59 0 9 6 0 5 16
Polycystic liver disease 1 0 2 0 15 2 0 0 16
Polyglandular autoimmune syndrome, type 1 0 13 0 12 2 0 2 16
Renal-hepatic-pancreatic dysplasia 1 0 11 0 7 9 0 0 16
Sjögren-Larsson syndrome 0 4 0 13 4 0 0 16
Sotos syndrome 0 7 0 12 4 0 0 16
Spastic paraplegia 0 58 0 12 3 0 3 16
Townes-Brocks syndrome 1 0 4 0 13 3 0 0 16
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 0 4 0 11 6 0 0 16
Arterial calcification, generalized, of infancy, 1 0 0 0 8 6 0 1 15
Atransferrinemia 0 0 0 5 10 0 0 15
Carcinoma of colon 0 17 3 4 4 1 4 15
Cardiac arrhythmia, ankyrin B-related 0 18 0 10 5 0 3 15
Cataract 0 3 0 13 1 0 1 15
Chitotriosidase deficiency 0 0 0 2 12 2 0 15
Colorectal cancer, non-polyposis 0 5 4 4 13 0 1 15
Cowden syndrome 1 0 39 1 7 6 0 3 15
Familial erythrocytosis 0 3 0 15 0 0 0 15
Gamma-aminobutyric acid transaminase deficiency 0 6 0 5 9 0 1 15
Glanzmann thrombasthenia 0 1 0 8 7 0 0 15
Glycogen storage disease 0, muscle 0 2 0 7 8 0 0 15
Hereditary factor XI deficiency disease 0 18 0 9 4 0 4 15
Hyperphosphatasia-intellectual disability syndrome 0 3 0 3 12 0 0 15
Inclusion Body Myopathy, Dominant 0 5 0 11 4 0 0 15
Lig4 syndrome 0 4 0 5 9 0 1 15
Localized AR Hypotrichosis 0 0 0 3 12 0 0 15
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 0 10 0 5 10 0 1 15
Mitochondrial diseases 0 16 2 11 4 0 4 15
Mucolipidosis III Gamma 0 4 1 2 10 0 2 15
Myelodysplastic syndrome 0 2 0 14 0 1 0 15
Myoclonic epilepsy, familial infantile 0 2 0 2 12 0 1 15
Neutral lipid storage disease with myopathy 0 1 0 3 13 0 0 15
Nonsyndromic hearing loss and deafness 0 10 0 5 6 0 6 15
Oculocutaneous albinism 0 8 0 5 10 0 0 15
Perrault syndrome 0 6 0 8 7 0 0 15
Pineal hyperplasia AND diabetes mellitus syndrome 0 3 0 11 4 0 0 15
Polycystic kidney disease, autosomal dominant 0 8 0 8 6 0 1 15
Primary autosomal recessive microcephaly 1 0 10 0 2 10 0 3 15
Primary open angle glaucoma 0 4 0 11 4 0 1 15
Renal hamartomas nephroblastomatosis and fetal gigantism 0 2 0 0 15 0 0 15
Severe combined immunodeficiency with sensitivity to ionizing radiation 0 5 0 5 9 0 1 15
Stuve-Wiedemann syndrome 0 4 0 4 11 0 1 15
Syndactyly Cenani Lenz type 0 0 0 3 12 0 0 15
Transcobalamin II deficiency 0 0 0 4 10 0 1 15
Vitelliform macular dystrophy type 2 0 26 0 11 2 0 2 15
Vitreoretinopathy 0 16 0 13 3 0 1 15
Wilms Tumor 0 3 0 9 6 1 0 15
Wolff-Parkinson-White pattern 0 10 0 2 5 0 8 15
Abnormality of brain morphology 0 2 0 2 1 0 12 14
Adenylosuccinate lyase deficiency 0 22 0 6 5 0 4 14
Argininosuccinate lyase deficiency 0 7 1 8 2 0 3 14
Benign familial neonatal seizures 1 0 19 0 8 1 0 6 14
Carcinoma of pancreas 0 12 0 4 11 0 0 14
Cerebral cavernous malformation 0 18 0 12 3 0 2 14
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 0 5 11 0 3 0 0 14
Congenital fibrosis of the extraocular muscles 0 2 0 11 3 0 0 14
D-2-hydroxyglutaric aciduria 0 5 0 7 8 0 0 14
Deafness, autosomal recessive 2; Usher syndrome, type 1 0 15 0 8 5 0 2 14
Deafness, autosomal recessive 3 0 6 0 7 4 0 4 14
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 0 62 0 2 11 0 1 14
Ehlers-Danlos syndrome, procollagen proteinase deficient 0 0 0 9 6 0 0 14
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 0 50 0 4 8 0 2 14
GRACILE syndrome 0 2 1 7 4 0 3 14
Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 0 49 0 7 1 0 6 14
Hereditary fructosuria 0 5 0 6 6 0 2 14
Hypercholesterolaemia 0 9 0 4 6 0 4 14
Hypoglycemia with deficiency of glycogen synthetase in the liver 0 5 0 6 8 0 0 14
Intellectual disability 0 14 0 9 3 0 3 14
Joubert syndrome 17 0 13 0 8 3 0 4 14
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0 5 0 9 0 0 5 14
Muscle AMP deaminase deficiency 0 0 0 1 9 1 5 14
Nemaline Myopathy, Dominant 0 10 0 9 6 0 0 14
Noonan syndrome 1 0 43 1 11 1 0 2 14
Paget disease of bone 0 1 0 9 5 0 0 14
Periventricular Heterotopia 0 3 0 1 13 0 0 14
Pigmentary retinal dystrophy 0 9 1 8 5 0 1 14
Pitt-Hopkins syndrome 0 15 0 11 4 0 0 14
Popliteal pterygium syndrome 0 6 0 5 9 0 0 14
Progressive myoclonic epilepsy 0 47 0 4 9 0 1 14
Progressive myoclonus epilepsy with ataxia 0 21 0 6 6 0 3 14
Pseudoneonatal adrenoleukodystrophy 0 2 0 3 11 0 0 14
Renal tubular acidosis with progressive nerve deafness 0 4 0 7 7 0 0 14
Rotor syndrome 0 3 0 5 7 1 1 14
Schimke immunoosseous dysplasia 0 7 0 2 11 0 1 14
Small cell lung cancer 0 6 0 12 0 0 2 14
Sotos syndrome 1 0 34 0 3 11 0 1 14
Stargardt Disease, Dominant 0 10 0 9 4 0 1 14
Uterine cervical neoplasms 0 5 2 10 0 0 2 14
Wagner syndrome 0 15 0 12 3 0 0 14
Arrhythmogenic right ventricular cardiomyopathy, type 11 0 31 0 7 8 0 0 13
Branchiootorenal Spectrum Disorders 0 4 0 9 5 0 0 13
Brody myopathy 0 11 0 6 4 0 3 13
Catecholaminergic polymorphic ventricular tachycardia type 1 0 11 1 3 7 0 3 13
Cholestasis, intrahepatic, of pregnancy 3 0 2 0 5 1 0 7 13
Congenital amegakaryocytic thrombocytopenia 0 3 0 10 4 0 0 13
Congenital disorder of glycosylation type 1t 0 5 0 9 4 0 0 13
Corticosterone methyloxidase type 2 deficiency 0 3 0 13 0 0 0 13
Deafness, autosomal recessive 2 0 4 0 10 2 0 2 13
Deafness, autosomal recessive 9 0 14 3 4 2 1 4 13
Diffuse mesangial sclerosis 0 5 0 9 5 0 0 13
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 0 90 0 8 4 0 1 13
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 50 1 5 2 0 6 13
Familial hypercholesterolemia 3 0 9 0 7 5 0 1 13
Familial hypocalciuric hypercalcemia 0 10 0 8 6 0 0 13
GM1 gangliosidosis 0 8 0 5 7 0 1 13
Glucocorticoid deficiency with achalasia 0 2 0 6 6 0 1 13
Hereditary acrodermatitis enteropathica 0 0 0 4 9 0 0 13
Hereditary cutaneous melanoma 0 82 1 4 6 0 3 13
Hirschsprung disease 0 4 1 4 5 1 5 13
Hyperekplexia 0 16 0 12 1 0 0 13
Hyperkalemic Periodic Paralysis Type 1 0 41 0 4 4 0 5 13
Hypocalcemia 0 6 0 8 6 0 0 13
Hypophosphatasia 0 10 0 8 6 0 0 13
Idiopathic basal ganglia calcification 1 0 6 0 12 2 0 1 13
Long QT syndrome 3 0 15 0 8 1 0 5 13
Maturity-onset diabetes of the young, type 3 0 12 0 4 5 0 5 13
Meacham syndrome 0 4 0 9 5 0 0 13
Melanoma-pancreatic cancer syndrome 0 15 4 8 6 0 0 13
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 0 25 0 10 2 0 2 13
Myofibrillar myopathy 1 0 21 0 11 3 0 1 13
Neonatal severe hyperparathyroidism 0 7 0 8 6 0 0 13
Nephropathic cystinosis 0 7 1 5 6 0 1 13
Otospondylomegaepiphyseal dysplasia, autosomal dominant 0 12 0 6 8 0 0 13
Otospondylomegaepiphyseal dysplasia, autosomal recessive 0 10 0 6 8 0 0 13
Peripheral axonal neuropathy 0 13 0 10 4 0 0 13
Perry syndrome 0 3 0 12 5 0 0 13
Renal Hypomagnesemia, Recessive 0 0 0 6 7 0 0 13
Rett syndrome, congenital variant 0 12 0 5 8 0 2 13
Roberts-SC phocomelia syndrome 0 1 1 4 7 0 1 13
SALL4-Related Spectrum Disorders 0 7 0 9 4 0 0 13
Severe combined immunodeficiency due to ADA deficiency 0 6 0 9 5 0 1 13
Severe congenital neutropenia 0 3 0 6 7 0 0 13
Syndromic Microphthalmia, Recessive 0 0 0 2 11 0 0 13
Usher syndrome, type 1F 0 7 0 8 3 0 3 13
4p partial monosomy syndrome 0 5 0 9 3 0 0 12
Acrodysostosis 0 2 0 8 4 0 0 12
Acute intermittent porphyria 0 6 0 8 6 0 2 12
Adrenocortical carcinoma 0 1 2 8 0 0 3 12
Andermann syndrome 0 3 0 2 11 0 0 12
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0 1 0 0 11 0 1 12
Autoimmune lymphoproliferative syndrome 0 7 0 9 5 0 0 12
Autosomal dominant distal hereditary motor neuropathy 0 1 0 1 1 0 10 12
Breast-ovarian cancer, familial 3 0 19 0 6 3 4 1 12
Bronchiectasis with or without elevated sweat chloride 1 0 6 0 9 3 0 2 12
C-like syndrome 0 15 0 9 2 0 1 12
Capillary malformation-arteriovenous malformation 1 0 4 0 10 3 0 1 12
Carnitine palmitoyltransferase II deficiency 0 11 0 6 2 1 3 12
Chondrodysplasia 0 7 0 10 2 0 0 12
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 0 6 0 4 8 0 0 12
Colorectal adenoma 0 1 2 2 7 0 1 12
Cornelia de Lange syndrome 1 0 21 0 5 7 0 1 12
Corticosterone methyloxidase type 1 deficiency 0 3 0 12 0 0 0 12
Cystic fibrosis; CFTR-related disorders 0 13 0 5 0 0 7 12
Deafness, autosomal dominant 3a 0 9 0 9 0 0 3 12
Diabetes mellitus, neonatal, with congenital hypothyroidism 0 0 0 2 10 0 0 12
Diastrophic dysplasia 0 2 6 4 3 0 0 12
Dilated Cardiomyopathy, Recessive 0 4 0 6 6 0 0 12
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 0 13 0 6 6 0 0 12
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 39 0 6 6 0 1 12
Fatal Infantile Cardioencephalomyopathy 0 5 0 6 6 0 0 12
Hemolytic anemia 0 0 1 9 2 0 0 12
Histiocytosis-lymphadenopathy plus syndrome 0 4 0 7 4 0 2 12
Holocarboxylase synthetase deficiency 0 3 0 3 9 0 0 12
Holt-Oram syndrome 0 15 0 10 4 0 0 12
Hyperprolinemia 0 0 0 0 12 0 0 12
Hypertrichotic osteochondrodysplasia 0 1 0 5 7 0 0 12
Infantile neuroaxonal dystrophy 0 12 0 4 6 0 4 12
Lymphoproliferative syndrome 0 1 0 5 7 0 0 12
Meier-Gorlin syndrome 0 2 0 3 9 0 0 12
Microcephalic osteodysplastic primordial dwarfism type 2 0 15 0 10 2 0 0 12
Multiple Cutaneous and Uterine Leiomyomas 0 5 0 7 4 0 1 12
Multiple endocrine neoplasia, type 4 0 6 0 11 0 0 2 12
Myofibrillar myopathy, ZASP-related 0 27 0 4 8 0 1 12
Nephrotic syndrome, idiopathic, steroid-resistant 0 5 0 8 0 0 4 12
Neurofibromatosis, type 2 0 15 1 6 6 0 1 12
Neurologic Disorders/Seipinopathy 0 2 0 6 7 0 0 12
Orthostatic hypotension 1 0 1 0 3 9 0 0 12
Selective tooth agenesis 0 3 0 9 3 0 3 12
Tramadol response 0 0 0 0 0 12 0 12
Tyrosinase-positive oculocutaneous albinism 0 5 0 6 1 0 9 12
Tyrosinemia type I 0 2 4 6 1 1 1 12
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 9 0 4 1 0 6 11
Basal laminar drusen 0 3 0 10 1 0 0 11
Benign Neonatal Epilepsy 0 10 0 6 5 0 0 11
Benign familial neonatal seizures 0 21 0 6 5 0 0 11
Bietti crystalline corneoretinal dystrophy 0 1 2 5 3 0 3 11
Brainstem glioma 0 6 0 9 0 0 2 11
Ceroid lipofuscinosis neuronal 5 0 7 3 8 3 0 1 11
Charcot-Marie-Tooth disease, type 4B3 0 5 0 5 6 0 0 11
Chronic granulomatous disease 0 2 0 1 10 0 0 11
Common Variable Immune Deficiency, Recessive 0 2 0 5 7 0 0 11
Cutaneous melanoma 0 18 1 10 0 0 0 11
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 0 1 0 3 8 0 0 11
Cystinosis 0 5 0 5 6 0 0 11
Cystinuria 0 5 0 4 7 0 1 11
Deficiency of acetyl-CoA acetyltransferase 0 7 0 7 3 0 1 11
Dihydropyrimidine dehydrogenase deficiency 0 16 0 6 2 0 4 11
Dilated cardiomyopathy 1AA 0 7 0 10 0 0 1 11
Distal Renal Tubular Acidosis, Recessive 0 0 0 6 5 0 0 11
Early infantile epileptic encephalopathy 2 0 30 0 9 2 0 2 11
Early infantile epileptic encephalopathy 7 0 25 0 7 0 0 4 11
Epidermolysis bullosa simplex 0 12 0 11 0 0 0 11
Epilepsy, familial focal, with variable foci 1 0 26 0 3 7 0 1 11
Episodic ataxia 0 10 0 8 3 0 0 11
Familial medullary thyroid carcinoma 0 12 1 1 6 0 3 11
Familial multiple polyposis syndrome 0 15 2 3 8 1 0 11
Frank Ter Haar syndrome 0 5 0 7 4 0 0 11
Glucose transporter type 1 deficiency syndrome 0 7 0 8 5 0 0 11
Glycogen storage disease type 13 0 2 0 8 2 0 1 11
Gray platelet syndrome 0 0 0 2 9 0 0 11
Hereditary Neuralgic Amyotrophy (HNA) 0 6 0 11 0 0 0 11
Hereditary sensory and autonomic neuropathy type IC 0 2 0 8 2 0 1 11
Homocystinuria 0 10 0 3 8 0 0 11
Howel-Evans syndrome 0 3 0 11 0 0 0 11
Hypertyrosinemia 0 5 0 6 5 0 0 11
Inflammatory bowel disease 0 0 0 1 10 0 0 11
Jarcho-Levin syndrome 0 3 0 6 5 0 0 11
Kohlschutter's syndrome 0 2 0 5 8 0 0 11
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 0 18 0 8 1 0 2 11
Loeys-Dietz syndrome 4 0 18 0 8 4 0 1 11
Lysinuric protein intolerance 0 1 0 1 10 0 1 11
Mandibuloacral dysplasia 0 12 0 6 6 0 1 11
Medullary thyroid carcinoma 0 2 0 9 0 0 2 11
Metachondromatosis 0 3 0 5 5 0 1 11
Monogenic Non-Syndromic Obesity 0 0 0 3 8 0 0 11
Mulibrey nanism syndrome 0 0 1 3 8 0 0 11
Muscle eye brain disease 0 0 0 10 1 0 1 11
Muscular Diseases 0 8 0 2 5 0 4 11
Nonsyndromic Trigonocephaly 0 2 0 8 3 0 0 11
Noonan-Like Syndrome Disorder 0 7 0 10 1 0 0 11
Osteoglophonic dysplasia 0 2 0 8 3 0 0 11
Otofaciocervical syndrome 1 0 4 0 7 5 0 0 11
Parkes Weber syndrome 0 0 0 9 2 0 0 11
Parkinson Disease, Recessive 0 2 0 1 10 0 0 11
Paroxysmal familial ventricular fibrillation 1 0 1 0 4 5 0 2 11
Pseudohypoaldosteronism type 1 autosomal dominant 0 7 0 11 0 0 0 11
Striatal Degeneration 0 5 0 10 1 0 0 11
Symmetrical dyschromatosis of extremities 0 3 0 7 6 0 1 11
Tetralogy of Fallot 0 1 0 0 2 0 9 11
Thrombocythemia 1 0 2 0 10 1 0 0 11
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 0 2 0 9 2 0 0 11
Treacher Collins syndrome 1 0 7 0 9 2 0 1 11
Tubulinopathies 0 26 0 10 0 0 1 11
Abetalipoproteinaemia 0 3 0 4 7 0 0 10
Abnormality of coagulation 0 3 0 3 2 0 5 10
Achromatopsia 3 0 3 1 4 2 0 4 10
Arthrogryposis with renal dysfunction and cholestasis syndrome 0 2 0 4 6 0 0 10
Aspartylglucosaminuria 0 5 0 4 6 0 1 10
Autosomal recessive centronuclear myopathy 0 6 0 1 9 0 0 10
Beta-D-mannosidosis 0 6 0 7 3 0 0 10
Breast and Ovarian Cancer Susceptibility 0 1 0 6 4 0 0 10
Charcot-Marie-Tooth disease, axonal, type 2O 0 18 0 2 6 0 2 10
Citrin deficiency 0 8 0 4 6 0 0 10
Combined Pituitary Hormone Deficiency, Recessive 0 2 0 4 6 0 0 10
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 0 29 0 7 2 0 2 10
Deficiency of malonyl-CoA decarboxylase 0 4 0 3 6 0 1 10
Distal Renal Tubular Acidosis, Dominant 0 0 1 8 1 0 0 10
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 0 24 0 2 6 0 3 10
Familial Atypical Mycobacteriosis, Autosomal Dominant 0 4 0 9 1 0 0 10
Familial hypercholesterolemia - homozygous 0 25 0 10 0 0 0 10
Familial hypertrophic cardiomyopathy 14 0 26 0 2 7 0 2 10
Fucosidosis 0 4 0 6 4 0 0 10
Glycogen storage disease type X 0 1 0 4 5 0 2 10
Hecht syndrome 0 2 0 4 6 0 0 10
Hypomagnesemia 1, intestinal 0 0 0 5 5 0 0 10
Hypoparathyroidism retardation dysmorphism syndrome 0 2 0 5 5 0 1 10
Immunodeficiency with Hyper-IgM 0 4 0 3 7 0 0 10
Infantile hypophosphatasia 0 12 0 7 1 0 2 10
Insulin-like growth factor 1 resistance to 0 1 0 4 5 1 0 10
Joubert syndrome; Meckel-Gruber syndrome 0 33 0 4 1 0 5 10
LCHAD Deficiency 0 1 0 2 8 0 0 10
Leber congenital amaurosis 1 0 13 0 7 3 0 1 10
Lethal tight skin contracture syndrome 0 19 0 6 6 0 0 10
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 0 2 2 4 4 0 0 10
Lung cancer 0 3 0 7 3 0 1 10
MASP2 deficiency 0 1 0 6 4 0 0 10
Malignant tumor of prostate 0 1 0 1 5 0 4 10
Maturity-onset diabetes of the young, type 1 0 5 1 5 1 0 3 10
Mental retardation, X-linked, syndromic 13 0 11 0 3 6 0 2 10
Microphthalmia, isolated 6 0 5 1 1 8 0 0 10
Motor neuron disease 0 1 0 2 3 1 4 10
Pancreatic cancer 3 0 6 0 4 2 4 0 10
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 0 28 0 3 6 0 2 10
Polyglucosan body disease, adult 0 5 0 5 5 0 0 10
Primary autosomal recessive microcephaly 9 0 0 0 2 8 0 2 10
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 0 16 0 4 6 0 0 10
Progressive familial heart block type 1B 0 12 0 2 7 0 5 10
Protein S deficiency 0 3 0 5 6 1 0 10
Retinal Macular Dystrophy 0 8 0 6 3 0 1 10
Short-rib thoracic dysplasia 3 with or without polydactyly 0 4 0 5 3 0 2 10
Shprintzen-Goldberg syndrome 0 17 0 3 6 0 1 10
Spastic paraplegia 4, autosomal dominant 0 23 0 6 1 0 6 10
Spontaneous pneumothorax 0 8 1 4 8 0 0 10
UDPglucose-4-epimerase deficiency 0 2 3 2 5 2 2 10
Ulnar-mammary syndrome 0 2 0 8 2 0 0 10
Ventricular fibrillation 0 4 0 3 8 0 0 10
White sponge nevus of cannon 0 1 0 8 2 0 0 10
ALS2-Related Disorders 0 3 0 1 8 0 0 9
Acrocephalosyndactyly type I 0 7 0 9 0 0 0 9
Acyl-CoA dehydrogenase family, member 9, deficiency of 0 10 0 3 7 0 0 9
Afibrinogenemia, congenital 0 1 0 7 0 0 2 9
Anophthalmia - microphthalmia 0 2 0 3 5 0 2 9
Arrhythmogenic right ventricular cardiomyopathy, type 10 0 39 0 3 2 0 6 9
Breast carcinoma 0 5 8 1 1 0 0 9
CC2D2A-Related Disorders 0 8 0 1 8 0 0 9
Camptomelic dysplasia 0 6 2 3 4 0 1 9
Ceroid lipofuscinosis neuronal 6 0 11 1 0 4 0 5 9
Congenital lactase deficiency 0 0 0 3 6 0 0 9
Congenital muscular dystrophy, LMNA-related 0 12 0 7 4 0 0 9
Congenital secretory diarrhea, chloride type 0 1 1 6 2 0 0 9
Crouzon syndrome 0 10 0 9 0 0 0 9
Cutaneous malignant melanoma 2 0 2 0 0 2 7 0 9
Cutis Gyrata syndrome of Beare and Stevenson 0 6 0 9 0 0 0 9
Danon disease 0 14 0 7 4 0 0 9
Deficiency of isobutyryl-CoA dehydrogenase 0 4 0 4 3 0 4 9
EEM syndrome 0 10 0 2 7 0 0 9
Early infantile epileptic encephalopathy 11 0 4 0 6 0 0 3 9
Early infantile epileptic encephalopathy 4 0 12 0 8 1 0 1 9
Episodic ataxia type 2 0 5 0 3 3 0 3 9
Familial High Density Lipoprotein Deficiency 0 3 0 7 3 0 0 9
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 23 0 8 0 0 2 9
Familial hypertrophic cardiomyopathy 17 0 13 0 6 4 0 0 9
Fanconi Anemia, X-Linked 0 3 0 9 1 0 0 9
Farber disease 0 6 0 4 3 0 2 9
Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 0 27 3 5 0 0 2 9
Gaucher's disease, type 1; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Gaucher disease type 3C 0 13 0 4 0 1 6 9
Glucocorticoid Deficiency 0 0 0 4 5 0 0 9
Glycogen storage disease type 1A 0 4 0 6 1 0 2 9
Greenberg dysplasia 0 3 0 1 8 0 0 9
Hemophilia B, Factor IX Deficiency 0 0 0 9 1 0 0 9
Hepatic venoocclusive disease with immunodeficiency 0 1 0 4 5 0 0 9
Hereditary Angioedema 0 6 0 8 1 0 0 9
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 0 0 0 4 5 0 0 9
Hutchinson-Gilford syndrome 0 16 0 7 4 0 0 9
Hyperferritinemia cataract syndrome 0 1 0 8 1 0 0 9
Hystrix-like ichthyosis with deafness 0 6 0 5 4 0 2 9
Irido-corneo-trabecular dysgenesis 0 2 0 5 2 1 1 9
Isolated coronal synostosis 0 5 0 9 0 0 0 9
Jackson-Weiss syndrome 0 6 0 9 0 0 0 9
Keratitis ichthyosis and deafness syndrome 0 5 0 5 4 0 2 9
LEOPARD syndrome 1 0 2 8 2 0 0 0 9
Lactose intolerance 0 0 0 3 6 0 0 9
Leber congenital amaurosis 2; Retinitis pigmentosa 20 0 13 0 9 0 0 0 9
Left ventricular noncompaction 0 7 0 2 4 1 2 9
Left ventricular noncompaction 10 0 4 0 2 4 0 4 9
Levy-Hollister syndrome 0 8 0 9 0 0 0 9
Marinesco-Sjögren syndrome 0 3 0 4 5 0 0 9
Martsolf syndrome 0 1 0 0 9 0 0 9
McKusick Kaufman syndrome 0 2 1 6 3 0 0 9
Megalencephalic leukoencephalopathy with subcortical cysts 0 2 0 2 7 0 0 9
Mitochondrial DNA depletion syndrome 2 0 0 5 3 1 0 0 9
Moyamoya disease 2 0 0 0 0 8 0 1 9
Multiple endocrine neoplasia, type 2 0 63 5 3 1 0 0 9
Multiple epiphyseal dysplasia 4 0 6 0 6 3 0 0 9
Multiple sulfatase deficiency 0 3 0 4 5 0 1 9
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 0 56 0 3 6 0 1 9
Natural killer cell and glucocorticoid deficiency with DNA repair defect 0 0 0 2 7 0 0 9
Navajo neurohepatopathy 0 4 4 3 0 0 2 9
Naxos disease 0 4 1 3 5 0 0 9
Neuroferritinopathy 0 1 0 8 1 0 0 9
Neuropathy hereditary sensory and autonomic type 1 0 4 0 7 2 0 1 9
Odontoonychodermal dysplasia 0 6 0 7 3 0 3 9
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 0 7 0 9 0 0 0 9
Paragangliomas 5 0 10 0 4 5 0 1 9
Parathyroid carcinoma 0 4 1 4 5 0 0 9
Parkinson Disease, Dominant/Recessive 0 1 0 7 2 0 0 9
Partial albinism 0 0 0 5 4 0 0 9
Peeling skin syndrome 1 0 0 0 5 4 0 0 9
Pena-Shokeir syndrome type I 0 0 0 2 7 0 1 9
Platelet-type bleeding disorder 9 0 4 0 9 0 0 0 9
Reduced antithrombin III activity 0 1 0 6 3 0 3 9
Retinal degeneration 0 6 1 4 4 0 0 9
SEPN1-Related Disorders 0 6 0 2 7 0 0 9
Saethre-Chotzen syndrome 0 6 0 9 0 0 0 9
Schopf-Schulz-Passarge syndrome 0 4 0 7 2 0 3 9
Severe autosomal recessive muscular dystrophy of childhood - North African type 0 18 0 7 2 0 0 9
Severe neonatal-onset encephalopathy with microcephaly 0 27 0 2 4 0 3 9
Skeletal dysplasia 0 3 0 2 8 0 1 9
Spondyloepiphyseal dysplasia 0 2 0 1 7 0 1 9
Sudden cardiac death 0 2 0 1 6 0 2 9
T-cell immunodeficiency, congenital alopecia and nail dystrophy 0 0 0 2 6 0 1 9
Thiamine Metabolism Dysfunction Syndrome 0 3 0 4 5 0 0 9
Trichorhinophalangeal Syndrome 0 6 0 8 2 0 0 9
Turcot syndrome; Muir-Torré syndrome; Lynch syndrome II 0 24 1 3 6 0 0 9
VACTERL association with hydrocephalus 0 4 0 9 1 0 0 9
Vesicoureteral reflux 0 2 0 8 1 0 0 9
Vitreoretinochoroidopathy 0 10 0 6 2 0 1 9
Weill-Marchesani syndrome 4 0 0 0 2 7 0 0 9
X-linked hereditary motor and sensory neuropathy 0 8 5 4 0 0 1 9
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 1 0 2 6 0 1 9
3-methylcrotonyl CoA carboxylase 2 deficiency 0 5 0 4 1 0 6 8
ABCA4-Related Disorders 0 15 0 1 3 0 5 8
Adams-Oliver syndrome 5 0 30 0 5 3 0 1 8
Amyloidosis 0 3 0 8 0 0 0 8
Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 11 0 0 8 0 0 8
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 5 0 2 3 0 3 8
Ataxia with vitamin E deficiency 0 2 4 6 0 0 2 8
Baller-Gerold syndrome 0 26 0 7 1 0 0 8
Becker muscular dystrophy 0 10 0 3 2 0 4 8
Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 0 18 0 7 2 0 0 8
Cardiac arrest 0 5 0 4 3 0 1 8
Cardiomyopathy; Dilated cardiomyopathy 0 3 0 5 3 0 0 8
Cardiomyopathy; Hypertrophic cardiomyopathy 0 4 0 6 3 0 0 8
Congenital Bile Acid Synthesis Defect 0 4 0 2 5 0 1 8
Costello syndrome 0 18 0 2 4 0 2 8
Cowden syndrome 0 6 2 2 5 0 0 8
Craniofacial deafness hand syndrome 0 0 0 8 0 0 0 8
Cutaneous malignant melanoma 3 0 7 0 4 4 1 0 8
Cutis Laxa, Dominant/Recessive 0 1 0 5 4 0 0 8
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 2 0 3 4 0 2 8
Deficiency of guanidinoacetate methyltransferase 0 6 2 2 4 0 0 8
Deoxygalactonojirimycin response 0 0 0 0 0 8 0 8
Diabetes mellitus AND insipidus with optic atrophy AND deafness 0 3 0 5 3 0 1 8
Dilated cardiomyopathy 1S 0 13 0 3 1 0 4 8
Distal arthrogryposis 0 2 0 6 2 0 0 8
Dyskeratosis congenita autosomal dominant 0 1 3 1 0 0 4 8
Early infantile epileptic encephalopathy 13 0 5 0 5 1 0 4 8
Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 0 17 2 3 0 0 3 8
Fleck corneal dystrophy 0 2 0 8 0 0 0 8
Galactosemia 0 1 0 4 4 2 1 8
Global developmental delay 0 2 0 5 4 0 3 8
Hyperlipoproteinemia, type I 0 2 0 5 2 1 0 8
Hyperthyroidism, nonautoimmune 0 0 0 3 3 0 2 8
Hypohidrotic X-linked ectodermal dysplasia 0 14 0 3 3 0 4 8
Hypomyelination, global cerebral 0 1 0 1 7 0 0 8
Joubert syndrome 1 0 13 0 5 4 0 1 8
Joubert syndrome 3 0 6 1 5 1 0 3 8
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 12 0 4 5 0 2 8
Juvenile neuronal ceroid lipofuscinosis 0 6 1 4 0 0 3 8
Laron-type isolated somatotropin defect 0 1 0 3 4 0 1 8
Legius syndrome 0 4 0 4 4 0 0 8
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 0 6 0 6 4 0 0 8
Localized epidermolytic hyperkeratosis 0 13 0 1 7 0 0 8
Mastocytosis 0 0 0 5 3 0 0 8
Mental retardation, autosomal dominant 6 0 2 0 8 0 0 1 8
Mental retardation, autosomal dominant 7 0 9 0 5 3 0 0 8
Methylmalonic aciduria cblB type 0 6 0 5 0 0 4 8
Microcytic anemia 0 0 0 4 4 0 0 8
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 0 6 0 3 5 0 0 8
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 0 3 0 3 5 0 0 8
Mucopolysaccharidosis type VII 0 2 0 3 5 0 0 8
Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders 0 0 0 3 5 0 0 8
Multiple Cutaneous and Mucosal Venous Malformations 0 4 0 8 0 0 0 8
Mutilating keratoderma 0 5 0 5 3 0 2 8
Myhre syndrome 0 4 0 3 5 0 0 8
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 0 42 0 4 1 0 3 8
Nasopharyngeal Neoplasms 0 0 0 7 0 0 1 8
Neoplasm of the thyroid gland 0 5 0 7 0 0 1 8
Nephrogenic diabetes insipidus 0 8 0 7 1 0 0 8
Newfoundland rod-cone dystrophy 0 3 0 6 3 0 0 8
Noonan syndrome-like disorder with loose anagen hair 1 0 1 0 5 2 0 1 8
Noonan syndrome; Cardio-facio-cutaneous syndrome 0 12 0 8 0 0 0 8
Osteogenesis imperfecta type I 0 51 0 3 4 0 2 8
Ovarian dysgenesis 0 1 0 7 1 0 0 8
Papillary renal cell carcinoma, sporadic 0 4 0 8 0 0 0 8
Paraganglioma and gastric stromal sarcoma 0 4 0 7 4 0 0 8
Paragangliomas 4 0 11 1 5 3 0 1 8
Parkinson disease 2 0 3 0 6 0 0 4 8
Primary hyperoxaluria, type II 0 2 1 5 1 0 1 8
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 0 0 5 0 0 7 8
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 0 0 0 6 1 0 1 8
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 0 0 0 2 6 0 0 8
Salla disease 0 3 2 6 1 0 0 8
Scapuloperoneal weakness 0 6 0 7 3 0 0 8
Severe combined immunodeficiency disease 0 4 0 8 0 0 0 8
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 0 8 0 1 4 0 4 8
Spheroid body myopathy 0 4 0 5 3 0 0 8
Spinal muscular atrophy, X-linked 2 0 3 0 7 1 0 0 8
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 2 0 1 7 0 0 8
Succinate-semialdehyde dehydrogenase deficiency 0 12 0 4 4 0 0 8
Succinyl-CoA acetoacetate transferase deficiency 0 2 0 4 5 0 0 8
Sucrase-isomaltase deficiency 0 2 0 1 4 0 3 8
Tyrosinase-negative oculocutaneous albinism 0 41 0 5 1 1 2 8
Ventricular tachycardia 0 13 0 0 8 0 0 8
Wolman disease 0 3 0 1 7 0 0 8
3 Methylcrotonyl-CoA carboxylase 1 deficiency 0 16 0 3 1 0 3 7
Acid-labile subunit deficiency 0 0 0 4 3 0 0 7
Acromesomelic Dysplasia 0 3 0 3 4 0 0 7
Adenoid cystic carcinoma 0 2 0 5 0 0 2 7
Alagille syndrome 1 0 25 0 1 3 0 3 7
Alkaptonuria 0 1 0 2 5 0 0 7
Alport syndrome 3, autosomal dominant 0 5 0 4 1 0 3 7
Alzheimer disease, type 3 0 21 3 4 0 0 0 7
Amyotrophic lateral sclerosis type 1 0 14 1 6 1 0 1 7
Angiokeratoma corporis diffusum with arteriovenous fistulas 0 5 0 6 2 0 0 7
Aortic aneurysm, familial thoracic 6 0 15 0 5 0 0 2 7
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 4 0 3 4 0 0 7
Autism 15; Pitt-Hopkins-like syndrome 1 0 16 0 0 7 0 0 7
Bardet-Biedl syndrome 10 0 10 0 6 1 0 0 7
Behcet's syndrome 0 0 0 0 0 0 7 7
Benign familial neonatal seizures 2 0 4 0 4 1 0 3 7
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 0 26 0 1 3 0 3 7
Breast and colorectal cancer, susceptibility to 0 3 0 2 0 1 5 7
Bullous ichthyosiform erythroderma 0 20 0 6 1 0 0 7
CHEK2-Related Cancer Susceptibility 0 2 0 4 2 0 1 7
Cancer of the pancreas 0 5 1 2 5 0 0 7
Carcinoma 0 0 0 5 0 0 2 7
Cardiofaciocutaneous syndrome 1 0 11 0 7 0 0 0 7
Cerebellar ataxia infantile with progressive external ophthalmoplegia 0 1 2 7 0 0 3 7
Charcot-Marie-Tooth disease type 2C 0 26 0 5 1 0 1 7
Charcot-Marie-Tooth disease, demyelinating, type 1b 0 12 2 3 0 0 4 7
Charcot-Marie-Tooth disease, type 4C 0 1 2 3 1 0 3 7
Charcot-Marie-Tooth, X-linked 0 1 0 7 0 0 0 7
Coenzyme Q10 deficiency, primary, 4 0 10 0 6 0 0 3 7
Common Variable Immune Deficiency, Dominant 0 1 0 3 4 0 3 7
Common variable immunodeficiency 2 0 9 0 4 0 1 5 7
Common variable immunodeficiency 8, with autoimmunity 0 13 0 3 5 0 1 7
Cone/cone-rod dystrophy 0 7 0 2 0 0 6 7
Congenital bilateral aplasia of vas deferens from CFTR mutation 0 1 0 1 0 0 6 7
Congenital cerebellar hypoplasia 0 6 0 3 4 0 0 7
Congenital long QT syndrome 0 289 0 7 0 0 0 7
Congenital myotonia, autosomal recessive form 0 6 0 3 1 0 4 7
Cornelia de Lange syndrome 3 0 0 0 0 7 0 0 7
Craniopharyngioma 0 4 0 0 7 0 0 7
DE SANCTIS-CACCHIONE SYNDROME 0 2 0 4 3 0 0 7
Death in infancy 0 1 0 0 0 0 7 7
Deficiency of hydroxymethylglutaryl-CoA lyase 0 4 0 3 2 0 2 7
Deficiency of steroid 11-beta-monooxygenase 0 7 0 6 1 0 0 7
Dejerine-Sottas disease 0 0 1 0 1 0 6 7
Dyggve-Melchior-Clausen syndrome 0 3 0 2 5 0 0 7
Dyskeratosis Congenita, Dominant 0 3 0 7 0 0 0 7
Dyskeratosis congenita X-linked 0 1 2 2 0 0 3 7
Early infantile epileptic encephalopathy 9 0 18 0 3 3 0 2 7
Encephalopathy, familial, with neuroserpin inclusion bodies 0 4 0 7 0 0 0 7
Endometrial carcinoma; Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 5 0 19 1 1 6 0 0 7
Enhanced s-cone syndrome 0 0 0 2 5 0 0 7
Enhanced s-cone syndrome; Retinitis pigmentosa 37 0 3 1 5 2 0 0 7
Epilepsy, childhood absence 2; Familial febrile seizures 8 0 7 0 3 1 0 4 7
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 0 23 0 1 2 0 4 7
Factor X deficiency 0 0 0 4 3 0 1 7
Familial Mediterranean fever; Familial mediterranean fever, autosomal dominant 0 5 0 1 4 0 4 7
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 4 0 1 0 0 6 7
Fibrous dysplasia of jaw 0 9 0 5 3 0 0 7
Fukuyama congenital muscular dystrophy 0 6 0 4 3 0 0 7
Gingival fibromatosis 0 2 0 4 4 0 0 7
Glucose-6-phosphate transport defect 0 16 0 2 5 0 0 7
Glycogen storage disease, type VII 0 5 0 5 3 0 0 7
Hereditary coproporphyria 0 4 0 5 2 0 0 7
Hereditary hemorrhagic telangiectasia type 2 0 22 0 7 2 0 0 7
Hirschsprung Disease, Recessive 0 0 0 7 1 0 0 7
Hyperparathyroidism 0 0 1 2 4 0 0 7
Hyperparathyroidism 2 0 3 0 3 5 0 0 7
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 0 1 0 1 5 0 1 7
Hypomyelinating leukodystrophy 7 0 2 2 4 1 0 1 7
Iron accumulation in brain 0 9 0 3 3 0 1 7
Ischiopatellar dysplasia 0 3 0 7 0 0 0 7
Isolated Hyperparathyroidism 0 2 0 3 5 0 0 7
Kanzaki disease 0 4 0 3 4 0 0 7
Kartagener syndrome 0 15 0 3 2 0 2 7
Keratoconus 1 0 0 0 1 2 0 5 7
Keratosis follicularis 0 2 0 5 2 0 0 7
Knobloch syndrome 1 0 7 0 7 0 0 1 7
Koolen-de Vries syndrome 0 5 2 1 4 0 0 7
Lafora disease 0 16 0 4 2 0 2 7
Laminin alpha 2-related dystrophy 0 63 0 5 1 0 2 7
Larsen syndrome 0 1 0 0 7 0 0 7
Leukoencephalopathy with ataxia 0 4 0 1 6 0 0 7
Limb-girdle muscular dystrophy, type 2L 0 9 2 6 0 0 1 7
Loeys-Dietz syndrome 1 0 9 0 3 4 0 0 7
Lynch syndrome I; Turcot syndrome; Muir-Torré syndrome 0 11 2 0 7 0 0 7
Malignant hypothermia 0 4 0 1 6 0 1 7
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 0 18 0 7 0 0 0 7
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 0 2 0 3 4 0 0 7
Mental retardation, X-linked 1 0 10 0 2 3 0 2 7
Metaphyseal anadysplasia 0 1 0 6 1 0 0 7
Metaphyseal chondrodysplasia, McKusick type 0 0 1 3 0 0 3 7
Miller syndrome 0 1 0 2 4 0 1 7
Mitochondrial complex II deficiency; Paragangliomas 5 0 22 0 2 1 0 4 7
Mucopolysaccharidosis, MPS-III-C 0 5 0 6 1 0 2 7
Myoclonic dystonia 0 11 0 6 2 0 2 7
Neural tube defects, folate-sensitive 0 0 0 0 6 3 0 7
Neuroblastoma 3 0 19 0 3 4 0 2 7
Nocturnal frontal lobe epilepsy 0 4 0 4 4 0 0 7
Nonepidermolytic palmoplantar keratoderma 0 5 0 6 1 0 0 7
Nonsyndromic Oculocutaneous Albinism 0 4 0 6 0 0 1 7
Noonan syndrome 3 0 20 0 7 0 0 0 7
Noonan syndrome and Noonan-related syndrome 0 7 0 5 1 0 1 7
Osteopetrosis autosomal recessive 1 0 4 0 3 3 0 1 7
Periventricular nodular heterotopia 1 0 3 0 1 4 0 2 7
Phosphoenolpyruvate carboxykinase (GTP) deficiency 0 0 0 2 5 0 0 7
Pigmentary pallidal degeneration 0 4 0 5 1 0 1 7
Premature ovarian insufficiency 0 2 0 1 5 0 2 7
Primary autosomal recessive microcephaly 3 0 6 0 1 6 0 0 7
Primary autosomal recessive microcephaly 6 0 7 0 1 6 0 1 7
Progressive pseudorheumatoid dysplasia 0 1 0 3 4 0 0 7
Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 6 0 2 5 0 1 7
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1 (MNGIE type); Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 16 0 5 1 0 1 7
Prolidase deficiency 0 2 0 1 6 0 0 7
Renal Hypomagnesemia, Dominant 0 3 0 6 1 0 0 7
Renal cysts and diabetes syndrome 0 19 0 4 2 0 2 7
Retinitis Pigmentosa, Dominant/Recessive 0 0 1 7 1 0 0 7
Revesz syndrome 0 3 0 7 0 0 0 7
Rhizomelic chondrodysplasia punctata type 1 0 0 4 4 0 0 1 7
Schindler disease, type 1 0 5 0 3 4 0 0 7
Sideroblastic Anemia and Ataxia 0 6 0 6 2 0 0 7
Smith-McCort dysplasia 0 2 0 2 5 0 0 7
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 40 0 4 2 0 3 7
Spastic paraplegia 35 0 3 0 1 6 0 0 7
Spondyloepimetaphyseal dysplasia 0 1 0 4 3 0 0 7
Spongy degeneration of central nervous system 0 2 0 4 2 0 2 7
Surfactant metabolism dysfunction, pulmonary, 3 0 3 0 3 4 0 0 7
Tangier disease 0 3 0 5 3 0 0 7
Thanatophoric dysplasia type 1 0 0 7 0 0 0 1 7
Thiamine-responsive megaloblastic anemia 0 0 0 3 4 0 0 7
Tietz syndrome 0 0 0 4 3 0 0 7
Transient Neonatal Diabetes, Recessive 0 1 0 7 0 0 0 7
Tumoral calcinosis, hyperphosphatemic, familial 0 0 0 3 3 0 1 7
Ullrich congenital muscular dystrophy 1 0 4 0 2 1 0 4 7
Usher syndrome, type 1C; Deafness, autosomal recessive 18 0 5 1 1 5 0 1 7
Wolcott-Rallison dysplasia 0 0 0 2 5 0 0 7
3-Methylglutaconic aciduria type 2 0 8 0 4 1 0 1 6
Alpha-methylacyl-CoA racemase deficiency 0 5 0 5 1 0 0 6
Amish lethal microcephaly 0 3 0 3 3 0 0 6
Andersen Tawil syndrome; Short QT syndrome 3 0 11 0 0 1 0 5 6
Arginase deficiency 0 3 0 2 3 0 1 6
Arthrogryposis multiplex congenita distal 0 4 0 2 4 0 0 6
Atelosteogenesis 0 3 0 3 3 0 0 6
Auriculocondylar syndrome 0 4 0 5 1 0 0 6
Autistic disorder of childhood onset 0 0 0 1 6 0 1 6
Baraitser-Winter syndrome 1 0 4 0 4 0 0 2 6
Beckwith-Wiedemann syndrome 0 22 0 5 0 0 2 6
Beta-sarcoglycanopathy 0 4 0 2 4 0 0 6
Brown-Vialetto-Van Laere syndrome 2 0 4 0 4 2 0 1 6
COACH syndrome; Meckel syndrome type 6; Joubert syndrome 9 0 5 0 1 5 0 0 6
Cardiac conduction defect, nonspecific 0 3 0 5 0 0 1 6
Carney complex, type 1 0 3 4 0 1 0 1 6
Carnitine palmitoyltransferase I deficiency 0 2 3 3 0 0 3 6
Carnitine palmitoyltransferase II deficiency, infantile 0 5 0 4 2 0 0 6
Cerebellar ataxia, Cayman type 0 0 0 2 4 0 0 6
Cerebral palsy spastic quadriplegic 0 1 0 0 6 0 0 6
Ceroid lipofuscinosis neuronal 10 0 5 0 6 0 0 0 6
Ceroid lipofuscinosis neuronal 8 0 2 0 1 3 0 4 6
Char syndrome 0 1 0 3 3 0 0 6
Charcot-Marie-Tooth disease, type 4A 0 11 1 1 1 0 3 6
Chondrocalcinosis 0 3 0 5 1 0 0 6
Combined oxidative phosphorylation deficiency 1 0 5 0 4 1 0 1 6
Cone-rod dystrophy 0 7 0 3 1 0 2 6
Cone-rod dystrophy 3 0 14 0 6 0 0 0 6
Congenital nuclear cataract 0 2 0 2 4 0 0 6
Craniometaphyseal dysplasia 0 3 0 5 1 0 0 6
Deafness, autosomal recessive 12 0 1 0 3 0 0 3 6
Deficiency of beta-ureidopropionase 0 4 0 0 5 0 1 6
Delta-sarcoglycanopathy 0 1 0 4 3 0 0 6
Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension 0 0 0 2 4 0 0 6
Diabetes mellitus type 2 0 3 0 1 3 2 2 6
Dicarboxylic aminoaciduria 0 0 0 2 4 0 0 6
Dihydropyrimidinase deficiency 0 7 0 4 2 0 0 6
Dyskeratosis congenita, autosomal recessive, 5 0 1 0 2 1 0 3 6
Dystonia, dopa-responsive 0 2 0 1 4 0 1 6
Early infantile epileptic encephalopathy 14 0 4 0 4 1 0 1 6
Early infantile epileptic encephalopathy 5 0 6 0 1 5 0 0 6
Emery-Dreifuss muscular dystrophy 1, X-linked 0 18 0 2 3 0 1 6
Epilepsy, hearing loss, and mental retardation syndrome 0 5 0 2 0 0 4 6
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 18 0 1 5 0 0 6
Familial hypertrophic cardiomyopathy 10 0 16 0 3 1 0 3 6
Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 0 8 0 1 0 0 5 6
Familial hypertrophic cardiomyopathy 16 0 7 0 3 2 0 2 6
Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 0 7 0 6 0 0 0 6
Familial hypoplastic, glomerulocystic kidney 0 3 1 2 3 0 0 6
Familial renal hypouricemia 0 2 0 4 2 0 0 6
Fructose-biphosphatase deficiency 0 1 0 3 3 0 1 6
GNE myopathy; Sialuria 0 18 0 3 0 0 3 6
GTP cyclohydrolase I deficiency 0 2 0 3 3 0 1 6
Genetic prion diseases 0 2 0 5 1 0 0 6
Giant axonal neuropathy 1 0 1 0 2 3 0 2 6
Gilbert's syndrome 0 4 0 1 1 5 3 6
Glaucoma 0 1 0 4 2 0 0 6
Glucocorticoid resistance, generalized 0 0 0 6 0 0 0 6
Glucose 6 phosphate dehydrogenase deficiency 0 7 0 2 4 0 1 6
Hearing impairment 0 20 0 5 1 0 1 6
Heart failure 0 2 0 5 3 0 0 6
Hennekam lymphangiectasia-lymphedema syndrome 1 0 1 0 2 3 0 1 6
Hereditary factor II deficiency disease 0 1 0 0 6 0 0 6
Hereditary sensory and autonomic neuropathy type IIA 0 4 3 2 2 0 0 6
Hyaline fibromatosis syndrome 0 0 0 3 3 0 0 6
Hyperimmunoglobulin D with periodic fever 0 13 0 3 3 0 0 6
Hypermethioninemia 0 0 0 0 6 0 0 6
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 0 3 0 2 4 0 0 6
Hypocalciuric hypercalcemia, familial, type 1 0 6 0 3 2 0 2 6
Hypogonadotropic hypogonadism 7 with or without anosmia 0 2 0 4 2 0 0 6
Ichthyosis bullosa of Siemens 0 7 0 5 1 0 0 6
Infantile nephronophthisis 0 8 0 4 1 0 2 6
Intrinsic factor deficiency 0 4 0 2 4 0 0 6
Isolated GnRH Deficiency 0 1 0 1 5 0 0 6
Joubert syndrome 9 0 8 0 3 0 0 4 6
Juvenile hemochromatosis 0 0 0 2 4 0 0 6
KBG syndrome 0 11 0 5 0 0 1 6
Kindler's syndrome 0 2 0 1 5 0 0 6
Lethal Encephalopathy 0 3 0 4 2 0 0 6
Lethal multiple pterygium syndrome 0 7 0 2 2 0 3 6
Leukodystrophy, hypomyelinating, 6 0 6 0 6 0 0 0 6
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 0 1 0 4 0 0 2 6
Lissencephaly 2 0 6 0 4 4 0 0 6
Lissencephaly 3 0 4 0 3 1 0 2 6
Lissencephaly, Dominant 0 2 0 5 1 0 0 6
Lysosomal acid lipase deficiency 0 3 0 2 3 0 1 6
Male infertility 0 0 0 1 5 0 0 6
Meckel syndrome type 6 0 1 0 5 0 0 1 6
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 4 2 3 1 0 1 6
Mental retardation, autosomal dominant 1 0 21 0 0 6 0 0 6
Mental retardation, autosomal dominant 9 0 5 0 5 1 0 0 6
Methylmalonic acidemia with homocystinuria 0 20 0 3 2 0 1 6
Microcephaly with mental retardation and digital anomalies 0 2 0 2 4 0 0 6
Mitochondrial complex I deficiency, nuclear type 1 0 5 0 4 1 0 1 6
Mucopolysaccharidosis, MPS-III-B 0 9 0 6 1 0 0 6
Mucopolysaccharidosis, MPS-IV-A 0 12 1 4 0 0 1 6
Multiple gastrointestinal atresias 0 3 0 3 3 0 0 6
Muscular dystrophy 0 15 0 1 3 0 2 6
Myasthenic syndrome, congenital, 8 0 8 0 4 2 0 0 6
Myostatin-related muscle hypertrophy 0 0 0 5 1 0 0 6
Niemann-Pick disease, type B 0 8 0 4 0 0 2 6
Optic nerve hypoplasia 0 1 0 1 3 0 4 6
Osteochondrodysplasia 0 8 0 3 3 0 0 6
Otitis media, susceptibility to 0 2 0 0 5 0 1 6
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease 0 0 0 5 1 0 0 6
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 0 1 0 4 4 0 0 6
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 3 0 3 3 0 1 6
Pontocerebellar hypoplasia type 6 0 6 0 3 0 0 4 6
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 0 0 0 6 0 0 0 6
Reduced protein S activity 0 0 0 2 3 0 2 6
Retinitis pigmentosa 66 0 4 0 0 6 0 0 6
Rigidity and multifocal seizure syndrome, lethal neonatal 0 19 0 3 0 0 4 6
Rippling muscle disease 2 0 7 0 2 1 0 3 6
Short rib-polydactyly syndrome, Majewski type 0 5 0 4 2 0 1 6
Shwachman-Diamond syndrome 1 0 1 4 3 0 0 0 6
Speech-language disorder 1 0 4 0 5 1 0 1 6
Spinocerebellar ataxia 14 0 3 2 1 0 0 3 6
Sulfite oxidase deficiency 0 2 0 2 5 0 1 6
Troyer syndrome 0 4 0 1 5 0 0 6
Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 4 0 23 2 2 3 0 1 6
Usher syndrome, type 2C 0 4 0 4 4 0 0 6
VSX2-related Microphthalmia 0 0 0 1 5 0 0 6
Vasculopathy, retinal, with cerebral leukodystrophy 0 3 0 3 3 0 1 6
WFS1-Related Disorders 0 1 0 3 1 0 2 6
Warfarin response 0 0 0 0 0 6 0 6
Xeroderma pigmentosum, group G 0 1 0 5 1 0 0 6
3-Methylglutaconic aciduria type 1 0 4 0 3 2 0 0 5
Abnormality of the eye 0 3 0 2 0 0 4 5
Acute Recurrent Myoglobinuria 0 1 0 2 3 0 0 5
Adrenocorticotropic hormone deficiency 0 1 0 1 4 0 0 5
Alopecia universalis 0 0 0 3 2 0 0 5
Alzheimer disease, type 4 0 7 1 3 0 0 1 5
Amelogenesis Imperfecta, Recessive 0 0 0 1 4 0 0 5
Amyotrophic lateral sclerosis type 10 0 2 0 4 0 0 1 5
Amyotrophic lateral sclerosis type 4 0 3 0 4 1 0 1 5
Anterior segment mesenchymal dysgenesis 0 1 0 3 1 0 1 5
Aortic aneurysm, familial thoracic 7 0 38 0 0 4 0 1 5
Aromatase deficiency 0 0 0 3 2 0 0 5
Arts syndrome 0 0 0 4 0 0 1 5
Astrocytoma 0 1 0 3 0 0 2 5
Atrial fibrillation, familial, 7 0 4 0 0 3 0 2 5
Atrial septal defect 7 with or without atrioventricular conduction defects 0 8 0 3 2 0 1 5
Atrichia with papular lesions 0 0 0 3 2 0 0 5
Autosomal recessive cutis laxa type 1B 0 7 0 3 3 0 0 5
Axenfeld-Rieger Syndrome 0 0 0 3 1 0 1 5
Bartter syndrome 0 0 0 1 4 0 0 5
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 0 27 0 1 3 0 1 5
Brown-Vialetto-Van Laere syndrome 1 0 2 0 2 1 0 4 5
Brugada syndrome 4 0 9 0 3 2 0 1 5
Brugada syndrome 5 0 14 0 2 3 0 1 5
C syndrome 0 3 0 4 1 0 0 5
Carney complex 0 4 0 3 2 0 0 5
Caveolinopathy 0 5 0 4 1 0 0 5
Charcot-Marie-Tooth disease, type 2A2A 0 9 0 3 2 0 2 5
Cholesterol monooxygenase (side-chain cleaving) deficiency 0 5 0 4 1 0 0 5
Ciliary dyskinesia, primary, 7 0 0 0 2 2 0 2 5
Ciliary dyskinesia, primary, 9 0 5 0 3 1 0 1 5
Citrullinemia type II 0 2 2 0 1 0 2 5
Cockayne syndrome type A 0 3 0 4 0 0 2 5
Combined cellular and humoral immune defects with granulomas; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 0 6 0 1 0 0 4 5
Combined molybdoflavoprotein enzyme deficiency 0 4 0 2 3 0 0 5
Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 0 14 0 3 2 0 0 5
Congenital Muscular Dystrophy, CHKB-related 0 2 0 0 5 0 0 5
Congenital diaphragmatic hernia 0 0 0 0 3 2 0 5
Congenital disorder of deglycosylation 0 9 0 5 0 0 0 5
Congenital disorder of glycosylation type 1K 0 0 0 4 0 0 1 5
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 0 0 0 4 0 0 1 5
Congenital muscular hypertrophy-cerebral syndrome 0 4 0 2 3 0 1 5
Congenital myopathy with fiber type disproportion 0 11 4 1 0 0 2 5
Congenital ocular coloboma 0 0 0 0 3 1 2 5
Cutaneous malignant melanoma 5 0 3 0 0 1 1 3 5
Cystic Fibrosis-Like Syndrome 0 1 0 4 1 0 0 5
Debrisoquine, poor metabolism of 0 0 0 0 0 5 0 5
Deficiency of hyaluronoglucosaminidase 0 0 0 4 1 0 0 5
Dermatofibrosis lenticularis disseminata 0 1 0 3 2 0 0 5
Diaphanospondylodysostosis 0 0 0 3 2 0 0 5
Distal myopathy 0 3 0 5 0 0 0 5
Early infantile epileptic encephalopathy 12 0 43 0 3 3 0 0 5
Early infantile epileptic encephalopathy 18 0 4 0 0 3 0 2 5
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 0 9 0 2 2 0 1 5
Ellis-van Creveld syndrome; Curry-Hall syndrome 0 7 0 2 3 0 1 5
Epilepsy, nocturnal frontal lobe, type 1 0 1 2 1 3 0 0 5
Epilepsy, progressive myoclonic 3 0 5 0 2 2 0 2 5
Epileptic encephalopathy, childhood-onset 0 17 0 2 2 0 1 5
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 0 7 0 0 3 0 2 5
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 15 0 3 0 0 3 5
Erythrokeratodermia variabilis et progressiva 1 0 5 0 4 2 0 0 5
Factor VII Marburg I Variant Thrombophilia 0 0 0 4 1 0 0 5
Familial Isolated Pituitary Adenomas 0 5 0 4 2 0 0 5
Familial cold autoinflammatory syndrome 2 0 14 0 3 2 0 1 5
Familial hypertrophic cardiomyopathy 19 0 10 0 4 1 0 0 5
Familial hypertrophic cardiomyopathy 7 0 2 0 3 0 1 1 5
Familial hypertrophic cardiomyopathy 8 0 5 0 2 0 0 4 5
Familial infantile myasthenia 0 11 0 3 0 0 4 5
Familial temporal lobe epilepsy 2 0 3 0 2 3 0 0 5
Fanconi anemia, complementation group D1 0 9 0 4 0 0 1 5
Febrile seizures, familial, 4 0 1 0 0 5 0 0 5
Flurbiprofen response 0 0 0 0 0 5 0 5
Gaucher's disease, type 1 0 10 0 3 0 0 2 5
Glycogen storage disease IXb 0 1 0 1 3 0 1 5
Gonadotropin-independent familial sexual precocity 0 4 0 4 2 0 0 5
Hb SS disease 0 31 0 3 0 0 2 5
Hearing loss 0 19 0 3 1 0 3 5
Hemochromatosis type 1 0 5 0 1 2 2 2 5
Hemophagocytic lymphohistiocytosis, familial, 3 0 8 0 0 5 0 0 5
Hemophilia A, FVIII Deficiency 0 1 0 5 0 0 0 5
Hereditary factor VIII deficiency disease 0 13 0 5 0 0 0 5
Hermansky-Pudlak syndrome 1 0 1 3 2 1 0 0 5
Holoprosencephaly 3 0 1 3 1 1 0 1 5
Hyperalphalipoproteinemia 1 0 5 0 4 1 0 0 5
Hypergonadotropic hypogonadism 0 2 0 4 2 0 0 5
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 0 0 1 0 4 0 0 5
Hyperphosphatasia with mental retardation syndrome 2 0 12 0 2 0 0 3 5
Hyperthyroxinemia, dysalbuminemic 0 0 0 0 5 0 0 5
Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1 0 10 0 1 0 0 4 5
Hypophosphatemic Nephrolithiasis/Osteoporosis 0 3 0 4 1 0 0 5
Ichthyosis vulgaris 0 6 0 4 0 0 2 5
Idiopathic generalized epilepsy 0 6 0 1 4 0 0 5
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 0 21 0 4 1 0 0 5
Inclusion body myopathy 3 0 7 0 2 2 0 3 5
Infantile hypercalcemia 0 0 0 1 4 0 0 5
Iridogoniodysgenesis, dominant type 0 1 0 3 1 0 1 5
Joubert syndrome 2 0 0 1 3 0 0 2 5
Kallmann syndrome 3 0 3 0 3 1 0 3 5
Keutel syndrome 0 0 0 3 2 0 0 5
Klippel Feil syndrome 0 0 0 3 2 0 0 5
Leber's optic atrophy 0 2 3 1 0 0 2 5
Left ventricular hypertrophy 0 5 0 0 3 0 2 5
Left ventricular noncompaction 1 0 9 0 3 3 0 0 5
Leptin receptor deficiency 0 0 0 3 2 0 1 5
Lesinurad response 0 0 0 0 0 5 0 5
Leydig cell agenesis 0 2 0 4 2 0 0 5
Limb-girdle muscular dystrophy, type 2E 0 20 0 4 0 0 1 5
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 0 34 0 2 2 0 1 5
Lissencephaly/Subcortical Band Heterotopia 0 0 0 5 1 0 0 5
Lymphedema, primary, with myelodysplasia 0 3 0 4 1 0 0 5
MUTYH-associated polyposis 0 15 0 5 0 0 0 5
Macular corneal dystrophy Type I 0 0 0 2 3 0 0 5
Maple syrup urine disease, type 3 0 6 0 4 0 0 1 5
Meckel syndrome type 1 0 0 0 1 0 0 4 5
Megaloblastic anemia due to inborn errors of metabolism 0 1 0 1 2 0 2 5
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 0 7 0 2 1 0 2 5
Mental retardation, autosomal dominant 5 0 13 0 3 1 0 1 5
Mental retardation, autosomal recessive 37 0 5 0 0 5 0 0 5
Methylmalonate semialdehyde dehydrogenase deficiency 0 0 0 3 2 0 0 5
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 0 2 0 4 0 0 1 5
Mucopolysaccharidosis, MPS-IV-B 0 7 0 5 0 0 0 5
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 13 0 2 0 0 4 5
Multiple mitochondrial dysfunctions syndrome 0 3 0 3 2 0 0 5
Myasthenic syndrome, congenital, 4a, slow-channel 0 15 0 2 0 0 3 5
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES 0 0 0 0 0 0 5 5
Neonatal diabetes mellitus 0 0 0 3 2 0 0 5
Neonatal pseudo-hydrocephalic progeroid syndrome 0 2 0 5 0 0 1 5
Nephronophthisis 4 0 3 0 1 4 0 0 5
Nephronophthisis-Like Nephropathy 0 0 0 2 3 0 0 5
Neural tube defect 0 0 0 4 0 1 0 5
Neurodegeneration with brain iron accumulation 4 0 2 0 3 3 0 1 5
Neurodegeneration with brain iron accumulation 5 0 9 0 2 2 0 1 5
Nonsyndromic Hearing Loss, X-Linked 0 1 0 5 0 0 0 5
Orofaciodigital syndrome I 0 0 5 0 0 0 0 5
Orotic aciduria 0 5 0 2 2 0 1 5
Ovarian hyperstimulation syndrome 0 0 0 5 0 0 0 5
PITX2-Related Eye Abnormalities 0 0 0 3 1 0 1 5
Papillon-Lefèvre syndrome 0 0 0 1 4 0 0 5
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 0 18 1 0 0 0 4 5
Parkinson disease, late-onset 0 2 0 0 2 3 1 5
Paroxysmal nonkinesigenic dyskinesia 1 0 11 0 3 1 0 1 5
Peroxisome biogenesis disorder 1B 0 3 0 4 1 0 0 5
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 0 16 0 4 0 0 2 5
Phosphoglycerate dehydrogenase deficiency 0 3 0 1 4 0 0 5
Piroxicam response 0 0 0 0 0 5 0 5
Premature ovarian failure 2b 0 0 0 4 0 0 1 5
Primary hyperoxaluria, type III 0 6 0 4 0 0 1 5
Progressive cone dystrophy (without rod involvement) 0 2 0 1 3 0 1 5
Prostate cancer, somatic 0 1 0 0 0 0 5 5
Proteinuria 0 0 0 1 3 0 1 5
Pulmonary Surfactant Metabolism Dysfunction, Dominant 0 1 0 5 0 0 0 5
Restrictive cardiomyopathy 0 4 0 4 1 0 0 5
Retinitis pigmentosa 76 0 2 0 4 0 0 1 5
Ring dermoid of cornea 0 0 0 3 1 0 1 5
Rubinstein-Taybi syndrome 2 0 2 0 1 2 0 2 5
Sengers syndrome 0 3 0 0 5 0 0 5
Short-rib polydactyly syndrome type III 0 4 0 4 0 0 1 5
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 0 7 0 0 5 0 1 5
Spastic paraplegia 10 0 2 0 4 0 0 1 5
Spastic paraplegia 3 0 8 2 3 0 0 1 5
Spermatogenic Failure 0 0 0 2 2 0 1 5
Spinocerebellar ataxia, autosomal recessive 8 0 13 0 3 3 0 0 5
Supraventricular tachycardia 0 0 0 1 5 0 0 5
TNF receptor-associated periodic fever syndrome (TRAPS) 0 16 0 2 2 0 3 5
Total anomalous pulmonary venous return 0 1 0 5 1 0 0 5
Transient Neonatal Diabetes, Dominant/Recessive 0 1 0 5 0 0 0 5
Triglyceride storage disease with ichthyosis 0 0 0 2 3 0 0 5
Trimethylaminuria 0 0 0 1 4 0 0 5
Unverricht-Lundborg syndrome 0 3 0 4 2 0 0 5
Uromodulin-associated kidney disease 0 3 0 4 1 0 0 5
Vici syndrome 0 8 0 1 4 0 1 5
Wieacker Wolff syndrome 0 2 0 5 0 0 1 5
Zunich neuroectodermal syndrome 0 0 0 1 4 0 0 5
warfarin response - Dosage 0 0 0 0 0 5 0 5
3-MCC Deficiency 0 0 0 0 4 0 0 4
46,XY sex reversal, type 3 0 5 0 3 1 0 0 4
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 0 1 0 0 3 1 0 4
Abnormal bleeding 0 4 0 2 1 0 3 4
Acute monocytic leukemia; Acute monoblastic leukemia 0 1 0 0 4 0 0 4
Aicardi Goutieres syndrome 2 0 1 0 3 1 0 1 4
Andersen Tawil syndrome 0 8 0 2 2 0 1 4
Aniridia 1 0 13 0 2 0 0 2 4
Arrhythmogenic right ventricular dysplasia, familial 1 0 2 0 3 1 0 0 4
Asparagine synthetase deficiency 0 3 0 3 0 0 1 4
Ataxia Neuropathy Spectrum Disorders 0 6 0 1 3 0 0 4
Ataxia-oculomotor apraxia type 1 0 4 0 3 1 0 0 4
Atrial fibrillation 0 13 0 3 2 0 1 4
Atrial fibrillation, familial, 10 0 1 0 1 0 0 3 4
Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome 2 0 8 0 2 2 0 0 4
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 0 2 1 2 1 0 0 4
Autosomal recessive congenital ichthyosis 5 0 5 0 0 1 0 4 4
Autosomal recessive hypophosphatemic bone disease 0 2 0 4 0 0 0 4
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 1 0 0 4 0 0 4
BCS1L-Related Disorders 0 1 0 1 0 0 3 4
Bardet-Biedl syndrome 12 0 3 0 1 1 0 2 4
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 0 5 0 1 1 0 2 4
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 0 7 0 3 0 0 1 4
Beta-plus-thalassemia 0 18 0 3 0 0 1 4
Bile acid synthesis defect, congenital, 2 0 0 0 1 0 0 4 4
Biotin-thiamine-responsive basal ganglia disease 0 8 0 2 4 0 1 4
Bladder carcinoma 0 0 0 4 0 0 0 4
Bone marrow failure syndrome 1 0 1 0 4 0 0 0 4
Brugada syndrome 8 0 30 0 1 2 0 1 4
Brugada syndrome 9 0 1 0 1 1 0 2 4
CEP290-Related Disorders 0 1 0 2 1 0 1 4
CHUNG-JANSEN SYNDROME 0 2 0 3 0 0 1 4
CYP2C19: no function 0 0 0 0 0 4 0 4
Cardiomyopathy; Long QT syndrome 0 2 0 4 0 0 0 4
Caspase-8 deficiency 0 1 0 1 3 0 0 4
Caudal dysgenesis syndrome 0 0 0 4 0 0 0 4
Cerebral cavernous malformations 2 0 10 0 4 0 0 0 4
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 0 2 0 2 1 0 1 4
Cerebral folate deficiency 0 4 0 1 4 0 1 4
Cerebroretinal microangiopathy with calcifications and cysts 1 0 2 0 2 2 0 0 4
Charcot-Marie-Tooth disease, type 1C 0 8 2 0 1 0 1 4
Charcot-Marie-Tooth disease, type 2N 0 4 0 4 1 0 0 4
Charcot-Marie-Tooth disease, type 4B2 0 4 0 1 3 0 0 4
Chondrodysplasia punctata 1, X-linked recessive 0 3 1 1 1 0 1 4
Cleft Lip +/- Cleft Palate, Autosomal Dominant 0 7 0 4 0 0 0 4
Coenzyme Q10 deficiency, Oculomotor Apraxia Type 0 1 0 1 2 0 1 4
Coenzyme Q10 deficiency, primary, 7 0 2 0 2 0 0 2 4
Colorectal cancer, susceptibility to 0 8 1 0 2 2 0 4
Combined Pituitary Hormone Deficiency, Dominant 0 1 0 3 1 0 0 4
Combined deficiency of sialidase AND beta galactosidase 0 5 0 2 2 0 0 4
Combined oxidative phosphorylation deficiency 12 0 0 0 4 0 0 0 4
Cone-rod dystrophy 15 0 1 0 1 4 0 1 4
Congenital central hypoventilation 0 7 0 2 0 0 2 4
Congenital myasthenic syndrome 0 8 0 2 0 0 3 4
Congenital myopathy 0 4 0 0 2 0 2 4
Congenital stationary night blindness, type 1B 0 6 0 4 0 0 0 4
Congenital stationary night blindness, type 1C 0 1 0 2 1 0 1 4
Congestive heart failure 0 3 0 1 4 0 0 4
Creatine deficiency, X-linked 0 5 2 0 2 0 0 4
Deafness, autosomal recessive 12; Usher syndrome, type 1D; PITUITARY ADENOMA 5, MULTIPLE TYPES 0 9 0 0 4 0 0 4
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 0 13 0 3 0 0 1 4
Deficiency of aromatic-L-amino-acid decarboxylase 0 3 0 3 2 0 0 4
Deficiency of galactokinase 0 0 0 0 3 0 1 4
Deficiency of transaldolase 0 1 0 1 1 0 2 4
Dent's disease 0 2 0 4 0 0 0 4
Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 0 19 3 1 2 0 0 4
Desmosterolosis 0 1 0 0 4 0 0 4
Dilated cardiomyopathy 1W 0 22 0 1 3 0 0 4
Dilated cardiomyopathy with woolly hair and keratoderma 0 2 0 4 0 0 0 4
Dominant hereditary optic atrophy 0 13 0 2 2 0 2 4
Ductal breast carcinoma 0 1 0 0 4 0 1 4
Dyskeratosis congenita, autosomal dominant, 2 0 0 0 2 1 0 1 4
Dystonia 5, Dopa-responsive type; GTP cyclohydrolase I deficiency 0 2 0 0 1 0 3 4
Early myoclonic encephalopathy 0 4 0 0 3 0 1 4
Ectodermal dysplasia and immunodeficiency 2 0 3 0 3 1 0 0 4
Ehlers-Danlos syndrome progeroid type 0 3 0 2 1 0 1 4
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 0 14 0 4 0 0 0 4
Eichsfeld type congenital muscular dystrophy 0 23 0 1 2 0 1 4
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 0 0 0 2 1 0 1 4
Endocardial fibroelastosis 0 0 0 3 1 0 0 4
Endometrial carcinoma 0 7 0 1 1 0 3 4
Epilepsy, familial temporal lobe, 5 0 0 0 0 1 0 3 4
Epilepsy, nocturnal frontal lobe, type 1; Tobacco addiction, susceptibility to 0 2 0 0 4 0 0 4
Epilepsy, nocturnal frontal lobe, type 3 0 2 0 2 1 0 1 4
Epilepsy, progressive myoclonic 4, with or without renal failure 0 5 0 1 3 0 0 4
Epileptic encephalopathy, early infantile, 1 0 4 0 1 3 0 2 4
Epileptic encephalopathy, early infantile, 19 0 0 0 1 0 0 3 4
Epileptic encephalopathy, early infantile, 26 0 8 0 2 0 0 3 4
Epileptic encephalopathy, early infantile, 36 0 8 0 0 4 0 0 4
Erythrocyte AMP deaminase deficiency 0 0 0 0 4 0 0 4
FG syndrome 1 0 6 0 1 2 0 1 4
Factor VII deficiency 0 2 0 3 0 1 0 4
Factor XIII subunit A deficiency 0 0 0 0 3 0 1 4
Familial adenomatous polyposis 3 0 3 0 1 2 0 1 4
Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 0 33 0 1 2 0 1 4
Familial exudative vitreoretinopathy 0 2 1 3 0 0 0 4
Familial hyperaldosteronism 0 9 0 3 1 0 0 4
Familial hypercholesterolemia 2 0 3 0 0 2 0 2 4
Familial hypercholesterolemia 4 0 2 0 1 2 0 2 4
Familial hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Familial hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 4 0 0 4 0 0 4
Familial hypertrophic cardiomyopathy 2 0 5 0 3 0 0 2 4
Familial temporal lobe epilepsy 1; Lissencephaly 2; Epilepsy, familial temporal lobe, 7 0 24 0 0 4 0 0 4
Familial visceral amyloidosis, Ostertag type 0 1 0 4 0 0 0 4
Focal epilepsy 0 2 0 2 1 0 2 4
Frontotemporal dementia, ubiquitin-positive 0 22 1 3 1 0 0 4
Gallbladder disease 1 0 2 0 1 0 0 3 4
Gastrointestinal stroma tumor; Paragangliomas 3 0 7 1 0 0 0 3 4
Geroderma osteodysplastica 0 0 0 2 2 0 0 4
Glaucoma 3, primary congenital, A 0 5 0 0 2 1 2 4
Glomuvenous malformations 0 2 0 4 0 0 0 4
Glycogen storage disease, type I 0 2 0 2 2 0 0 4
Griscelli syndrome type 2 0 1 0 3 1 0 1 4
Haemorrhagic telangiectasia 1 0 1 0 1 3 0 0 4
Haim-Munk syndrome 0 1 0 0 4 0 0 4
Hemochromatosis type 3 0 3 0 3 0 0 1 4
Hemorrhage, intracerebral, susceptibility to 0 0 0 0 0 4 0 4
Hereditary factor IX deficiency disease 0 5 0 3 1 0 1 4
Hereditary nonpolyposis colorectal cancer type 7 0 0 0 0 2 0 2 4
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 0 52 0 1 1 0 3 4
Holoprosencephaly 2 0 0 3 0 0 0 1 4
Holoprosencephaly 7 0 0 0 0 0 0 4 4
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 0 2 3 1 0 0 0 4
Hyperammonemia, type III 0 4 0 1 3 0 0 4
Hypercalcemia, infantile, 1 0 1 0 2 1 0 1 4
Hypercholanemia 0 1 0 1 2 0 1 4
Hyperphosphatasemia with bone disease 0 0 0 1 3 0 0 4
Hypobetalipoproteinemia, familial, 1 0 1 0 1 2 0 2 4
Hypochondroplasia 0 3 2 2 0 0 0 4
Hypohidrotic Ectodermal Dysplasia, Dominant 0 2 0 2 2 0 0 4
Hypokalemic periodic paralysis 1 0 1 4 0 0 0 0 4
Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 0 36 0 1 2 0 1 4
IRAK4 deficiency 0 0 0 1 3 0 0 4
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 0 8 0 1 1 0 2 4
Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 0 6