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DiseasesRatingBibliogr.Expand
1Torsades de Pointes100+ 
2De Lange Syndrome46+ 
3De Quervain Disease22+ 
4Long QT Syndrome16+ 
5Chromosome Deletion16+ 
6Abnormalities, Multiple14+ 
7Intellectual Disability14+ 
8Translocation, Genetic12+ 
9Tourette Syndrome12+ 
10Chromosome Aberrations10+ 
11Developmental Disabilities10+ 
12Chromosome Disorders9+ 
13Scleroderma, Localized9+ 
14Trisomy8+ 
15Syndrome8+ 
16Tachycardia8+ 
17Facies7+ 
18Psychomotor Disorders6+ 
19Chromosome Breakage6+ 
20Chromosome Inversion6+ 
21Microcephaly5+ 
22Craniofacial Abnormalities5+ 
23Growth Disorders5+ 
24Monosomy5+ 
25Genetic Predisposition to Disease5+ 
26Chromosome Duplication4+ 
27Muscle Hypotonia4+ 
28Autistic Disorder4+ 
29Tenosynovitis4+ 
30Recurrence4+ 
31Arrhythmias, Cardiac4+ 
32Hernia, Femoral4+ 
33Motion Sickness4+ 
34Epilepsy4+ 
35Thyroiditis, Subacute3+ 
36Hyperkinesis3+ 
37Body Dysmorphic Disorders3+ 
38Prader-Willi Syndrome3+ 
39Tics3+ 
40Postoperative Complications3+ 
41Sex Chromosome Aberrations3+ 
42Rett Syndrome3+ 
43Diseases in Twins3+ 
44Child Development Disorders, Pervasive3+ 
45Syncope3+ 
46Aneuploidy3+ 
47Ring Chromosomes3+ 
48Hepatitis, Autoimmune3+ 
49Genetic Diseases, X-Linked2+ 
50Progeria2+ 
51Holoprosencephaly2+ 
52Fetal Growth Retardation2+ 
53Foot Deformities, Congenital2+ 
54Hand Deformities, Congenital2+ 
55Heart Defects, Congenital2+ 
56Agenesis of Corpus Callosum2+ 
57Down Syndrome2+ 
58Limb Deformities, Congenital2+ 
59Keratoderma, Palmoplantar2+ 
60Language Development Disorders2+ 
61Scleroderma, Limited2+ 
62Speech Disorders2+ 
63Atrial Fibrillation2+ 
64Facial Hemiatrophy2+ 
65Seizures2+ 
66Mental Retardation, X-Linked2+ 
67Hypertelorism2+ 
68Hypokalemia2+ 
69Bradycardia2+ 
70Eye Abnormalities2+ 
71Cleft Palate2+ 
72Congenital Abnormalities2+ 
73Blepharophimosis2+ 
74Leukemia, Myeloid, Acute2+ 
75Tic Disorders2+ 
76Fanconi Syndrome2+ 
77Ventricular Fibrillation2+ 
78Coloboma2+ 
79Fetal Diseases2+ 
80Failure to Thrive2+ 
81Hereditary Sensory and Motor Neuropathy2+ 
82Hemangioma, Cavernous, Central Nervous System2+ 
83Intracranial Aneurysm2+ 
84Deafness2+ 
85Spasms, Infantile2+ 
86Aniridia2+ 
87Nephrosis2+ 
88Disease Progression2+ 
89Skin Abnormalities2+ 
90Isochromosomes1+ 
91Obsessive-Compulsive Disorder1+ 
92Drug Overdose1+ 
93Abnormal Karyotype1+ 
94Feeding and Eating Disorders of Childhood1+ 
95CHARGE Syndrome1+ 
96Campomelic Dysplasia1+ 
97Neoplasms, Second Primary1+ 
98Classical Lissencephalies and Subcortical Band Heterotopias1+ 
99Craniosynostoses1+ 
100Epilepsies, Myoclonic1+ 
101Attention Deficit Disorder with Hyperactivity1+ 
102Respiratory System Abnormalities1+ 
103Angelman Syndrome1+ 
104Subarachnoid Hemorrhage1+ 
105Learning Disorders1+ 
106Cri-du-Chat Syndrome1+ 
107Obesity1+ 
108Cutis Laxa1+ 
109Seizures, Febrile1+ 
110Cleft Lip1+ 
111Dwarfism1+ 
112Heart Arrest1+ 
113Blepharoptosis1+ 
114Aneurysm, Ruptured1+ 
115Musculoskeletal Abnormalities1+ 
116Language Disorders1+ 
117Microphthalmos1+ 
118Acrocallosal Syndrome1+ 
119Hypertrichosis1+ 
120Chromosome Fragility1+ 
121Oculocerebrorenal Syndrome1+ 
122Anophthalmos1+ 
123Epilepsy, Generalized1+ 
124Glomerulonephritis, Membranous1+ 
125Costello Syndrome1+ 
126Rhinitis, Vasomotor1+ 
127Scalp Dermatoses1+ 
128Acute Disease1+ 
129Thrombotic Microangiopathies1+ 
130Charcot-Marie-Tooth Disease1+ 
131Primary Ovarian Insufficiency1+ 
132Dandy-Walker Syndrome1+ 
133Spherocytosis, Hereditary1+ 
134Myelodysplastic Syndromes1+ 
135Marfan Syndrome1+ 
136Leukemia, Myelomonocytic, Acute1+ 
137Disease Models, Animal1+ 
138Atrophy1+ 
139Cadaver1+ 
140Clubfoot1+ 
141Intracranial Arteriovenous Malformations1+ 
142Death, Sudden1+ 
143Liver Cirrhosis1+ 
144Brachydactyly1+ 
145Liver Cirrhosis, Biliary1+ 
146Osteochondrodysplasias1+ 
147Heroin Dependence1+ 
148Ectodermal Dysplasia1+ 
149Birth Weight1+ 
150Cell Transformation, Neoplastic1+ 
151Syndactyly1+ 
152Bipolar Disorder1+ 
153Kidney Failure, Chronic1+ 
154Schizophrenia1+ 
155Ectromelia1+ 
156Nervous System Malformations1+ 
157Somatoform Disorders1+ 
158Hematologic Diseases1+ 
159Atrial Flutter1+ 
16046, XX Disorders of Sex Development1+ 
161Tachycardia, Ventricular1+ 
162Lesch-Nyhan Syndrome1+ 
163Nausea1+ 
164Ventricular Premature Complexes1+ 
165Genetic Diseases, Inborn1+ 
166Myopathies, Nemaline1+ 
167Water-Electrolyte Imbalance1+ 
168Epilepsy, Complex Partial1+ 
169Arthrogryposis1+ 
170DiGeorge Syndrome1+ 
171Schizophrenia, Paranoid1+ 
172Sotos Syndrome1+ 
173Delirium, Dementia, Amnestic, Cognitive Disorders1+ 
174Leukemia, B-Cell1+ 
175Hypocalcemia1+ 
176Hypertension1+ 
177Hepatitis B1+ 
178Upper Extremity Deformities, Congenital1+ 
179Septo-Optic Dysplasia1+ 
180Cognition Disorders1+ 
181Hearing Loss, Sensorineural1+ 
182Hirschsprung Disease1+ 
183Beckwith-Wiedemann Syndrome1+ 
184Genetic Diseases, Y-Linked1+ 
185Heart Block1+ 
186Renal Insufficiency1+ 
187Abortion, Habitual1+ 
188Acrocephalosyndactylia1+ 
189Cardiac Complexes, Premature1+ 
190Status Epilepticus1+ 
191Lissencephaly1+ 
192Bell Palsy1+ 
193Oligospermia1+ 
194Polydactyly1+ 
195Leukemia, Myeloid1+ 
196Mitochondrial Diseases1+ 
197Gonadal Dysgenesis, 46,XY1+ 
198Genomic Instability1+ 
199Proteinuria1+ 
200Waardenburg Syndrome1+ 
201Takotsubo Cardiomyopathy1+ 
202Substance Withdrawal Syndrome1+ 
203Asymptomatic Infections1+ 
204Rubinstein-Taybi Syndrome1+ 
205Facial Dermatoses1+ 
206Fetal Death1+ 
207Bone Diseases, Developmental1+ 
208Cerebral Hemorrhage1+ 
209Leukemia, Basophilic, Acute1+ 
210Atrioventricular Block1+ 
211Hypothyroidism1+ 
212Nephrosis, Lipoid1+ 
213Tooth Abnormalities1+ 
214Basal Ganglia Hemorrhage1+ 
215Heart Failure1+ 
216Psychotic Disorders1+ 
217Retinoblastoma1+ 
218Abnormalities, Radiation-Induced1+ 
219Glomerulonephritis1+ 
220Uniparental Disomy1+ 
221Kearns-Sayre Syndrome1+ 
222Disorders of Sex Development1+ 
223Mandibulofacial Dysostosis1+ 
224Adenocarcinoma1+ 
225Hypospadias1+ 
226Neoplasm Recurrence, Local1+ 
227Abortion, Spontaneous1+ 
228Anus, Imperforate1+ 
229Noonan Syndrome1+ 
230Kidney Diseases1+ 
231Death, Sudden, Cardiac1+ 
232Urogenital Abnormalities1+ 
233Single Umbilical Artery1+ 
234Cardiomyopathy, Dilated1+ 
235Muscular Diseases1+ 
236Pneumonia1+ 
237Neoplasms, Hormone-Dependent1+ 
238Kallmann Syndrome1+ 
239Hypoparathyroidism1+ 
240Facial Asymmetry1+ 
241Jacobsen Distal 11q Deletion Syndrome1+ 
242Leukemia, Monocytic, Acute1+ 
243Diabetic Nephropathies1+ 
244Hip Contracture1+ 
245Hearing Loss1+ 
246Rare Diseases1+ 
247Klinefelter Syndrome1+ 
248Tricuspid Valve Insufficiency1+ 

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