| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Torsades de Pointes | 100 | + + | |
2 | De Lange Syndrome | 46 | + + | |
3 | De Quervain Disease | 22 | + + | |
4 | Long QT Syndrome | 16 | + + | |
5 | Chromosome Deletion | 16 | + + | |
6 | Abnormalities, Multiple | 14 | + + | |
7 | Intellectual Disability | 14 | + + | |
8 | Translocation, Genetic | 12 | + + | |
9 | Tourette Syndrome | 12 | + + | |
10 | Chromosome Aberrations | 10 | + + | |
11 | Developmental Disabilities | 10 | + + | |
12 | Chromosome Disorders | 9 | + + | |
13 | Scleroderma, Localized | 9 | + + | |
14 | Trisomy | 8 | + + | |
15 | Syndrome | 8 | + + | |
16 | Tachycardia | 8 | + + | |
17 | Facies | 7 | + + | |
18 | Psychomotor Disorders | 6 | + + | |
19 | Chromosome Breakage | 6 | + + | |
20 | Chromosome Inversion | 6 | + + | |
21 | Microcephaly | 5 | + + | |
22 | Craniofacial Abnormalities | 5 | + + | |
23 | Growth Disorders | 5 | + + | |
24 | Monosomy | 5 | + + | |
25 | Genetic Predisposition to Disease | 5 | + + | |
26 | Chromosome Duplication | 4 | + + | |
27 | Muscle Hypotonia | 4 | + + | |
28 | Autistic Disorder | 4 | + + | |
29 | Tenosynovitis | 4 | + + | |
30 | Recurrence | 4 | + + | |
31 | Arrhythmias, Cardiac | 4 | + + | |
32 | Hernia, Femoral | 4 | + + | |
33 | Motion Sickness | 4 | + + | |
34 | Epilepsy | 4 | + + | |
35 | Thyroiditis, Subacute | 3 | + + | |
36 | Hyperkinesis | 3 | + + | |
37 | Body Dysmorphic Disorders | 3 | + + | |
38 | Prader-Willi Syndrome | 3 | + + | |
39 | Tics | 3 | + + | |
40 | Postoperative Complications | 3 | + + | |
41 | Sex Chromosome Aberrations | 3 | + + | |
42 | Rett Syndrome | 3 | + + | |
43 | Diseases in Twins | 3 | + + | |
44 | Child Development Disorders, Pervasive | 3 | + + | |
45 | Syncope | 3 | + + | |
46 | Aneuploidy | 3 | + + | |
47 | Ring Chromosomes | 3 | + + | |
48 | Hepatitis, Autoimmune | 3 | + + | |
49 | Genetic Diseases, X-Linked | 2 | + + | |
50 | Progeria | 2 | + + | |
51 | Holoprosencephaly | 2 | + + | |
52 | Fetal Growth Retardation | 2 | + + | |
53 | Foot Deformities, Congenital | 2 | + + | |
54 | Hand Deformities, Congenital | 2 | + + | |
55 | Heart Defects, Congenital | 2 | + + | |
56 | Agenesis of Corpus Callosum | 2 | + + | |
57 | Down Syndrome | 2 | + + | |
58 | Limb Deformities, Congenital | 2 | + + | |
59 | Keratoderma, Palmoplantar | 2 | + + | |
60 | Language Development Disorders | 2 | + + | |
61 | Scleroderma, Limited | 2 | + + | |
62 | Speech Disorders | 2 | + + | |
63 | Atrial Fibrillation | 2 | + + | |
64 | Facial Hemiatrophy | 2 | + + | |
65 | Seizures | 2 | + + | |
66 | Mental Retardation, X-Linked | 2 | + + | |
67 | Hypertelorism | 2 | + + | |
68 | Hypokalemia | 2 | + + | |
69 | Bradycardia | 2 | + + | |
70 | Eye Abnormalities | 2 | + + | |
71 | Cleft Palate | 2 | + + | |
72 | Congenital Abnormalities | 2 | + + | |
73 | Blepharophimosis | 2 | + + | |
74 | Leukemia, Myeloid, Acute | 2 | + + | |
75 | Tic Disorders | 2 | + + | |
76 | Fanconi Syndrome | 2 | + + | |
77 | Ventricular Fibrillation | 2 | + + | |
78 | Coloboma | 2 | + + | |
79 | Fetal Diseases | 2 | + + | |
80 | Failure to Thrive | 2 | + + | |
81 | Hereditary Sensory and Motor Neuropathy | 2 | + + | |
82 | Hemangioma, Cavernous, Central Nervous System | 2 | + + | |
83 | Intracranial Aneurysm | 2 | + + | |
84 | Deafness | 2 | + + | |
85 | Spasms, Infantile | 2 | + + | |
86 | Aniridia | 2 | + + | |
87 | Nephrosis | 2 | + + | |
88 | Disease Progression | 2 | + + | |
89 | Skin Abnormalities | 2 | + + | |
90 | Isochromosomes | 1 | + + | |
91 | Obsessive-Compulsive Disorder | 1 | + + | |
92 | Drug Overdose | 1 | + + | |
93 | Abnormal Karyotype | 1 | + + | |
94 | Feeding and Eating Disorders of Childhood | 1 | + + | |
95 | CHARGE Syndrome | 1 | + + | |
96 | Campomelic Dysplasia | 1 | + + | |
97 | Neoplasms, Second Primary | 1 | + + | |
98 | Classical Lissencephalies and Subcortical Band Heterotopias | 1 | + + | |
99 | Craniosynostoses | 1 | + + | |
100 | Epilepsies, Myoclonic | 1 | + + | |
101 | Attention Deficit Disorder with Hyperactivity | 1 | + + | |
102 | Respiratory System Abnormalities | 1 | + + | |
103 | Angelman Syndrome | 1 | + + | |
104 | Subarachnoid Hemorrhage | 1 | + + | |
105 | Learning Disorders | 1 | + + | |
106 | Cri-du-Chat Syndrome | 1 | + + | |
107 | Obesity | 1 | + + | |
108 | Cutis Laxa | 1 | + + | |
109 | Seizures, Febrile | 1 | + + | |
110 | Cleft Lip | 1 | + + | |
111 | Dwarfism | 1 | + + | |
112 | Heart Arrest | 1 | + + | |
113 | Blepharoptosis | 1 | + + | |
114 | Aneurysm, Ruptured | 1 | + + | |
115 | Musculoskeletal Abnormalities | 1 | + + | |
116 | Language Disorders | 1 | + + | |
117 | Microphthalmos | 1 | + + | |
118 | Acrocallosal Syndrome | 1 | + + | |
119 | Hypertrichosis | 1 | + + | |
120 | Chromosome Fragility | 1 | + + | |
121 | Oculocerebrorenal Syndrome | 1 | + + | |
122 | Anophthalmos | 1 | + + | |
123 | Epilepsy, Generalized | 1 | + + | |
124 | Glomerulonephritis, Membranous | 1 | + + | |
125 | Costello Syndrome | 1 | + + | |
126 | Rhinitis, Vasomotor | 1 | + + | |
127 | Scalp Dermatoses | 1 | + + | |
128 | Acute Disease | 1 | + + | |
129 | Thrombotic Microangiopathies | 1 | + + | |
130 | Charcot-Marie-Tooth Disease | 1 | + + | |
131 | Primary Ovarian Insufficiency | 1 | + + | |
132 | Dandy-Walker Syndrome | 1 | + + | |
133 | Spherocytosis, Hereditary | 1 | + + | |
134 | Myelodysplastic Syndromes | 1 | + + | |
135 | Marfan Syndrome | 1 | + + | |
136 | Leukemia, Myelomonocytic, Acute | 1 | + + | |
137 | Disease Models, Animal | 1 | + + | |
138 | Atrophy | 1 | + + | |
139 | Cadaver | 1 | + + | |
140 | Clubfoot | 1 | + + | |
141 | Intracranial Arteriovenous Malformations | 1 | + + | |
142 | Death, Sudden | 1 | + + | |
143 | Liver Cirrhosis | 1 | + + | |
144 | Brachydactyly | 1 | + + | |
145 | Liver Cirrhosis, Biliary | 1 | + + | |
146 | Osteochondrodysplasias | 1 | + + | |
147 | Heroin Dependence | 1 | + + | |
148 | Ectodermal Dysplasia | 1 | + + | |
149 | Birth Weight | 1 | + + | |
150 | Cell Transformation, Neoplastic | 1 | + + | |
151 | Syndactyly | 1 | + + | |
152 | Bipolar Disorder | 1 | + + | |
153 | Kidney Failure, Chronic | 1 | + + | |
154 | Schizophrenia | 1 | + + | |
155 | Ectromelia | 1 | + + | |
156 | Nervous System Malformations | 1 | + + | |
157 | Somatoform Disorders | 1 | + + | |
158 | Hematologic Diseases | 1 | + + | |
159 | Atrial Flutter | 1 | + + | |
160 | 46, XX Disorders of Sex Development | 1 | + + | |
161 | Tachycardia, Ventricular | 1 | + + | |
162 | Lesch-Nyhan Syndrome | 1 | + + | |
163 | Nausea | 1 | + + | |
164 | Ventricular Premature Complexes | 1 | + + | |
165 | Genetic Diseases, Inborn | 1 | + + | |
166 | Myopathies, Nemaline | 1 | + + | |
167 | Water-Electrolyte Imbalance | 1 | + + | |
168 | Epilepsy, Complex Partial | 1 | + + | |
169 | Arthrogryposis | 1 | + + | |
170 | DiGeorge Syndrome | 1 | + + | |
171 | Schizophrenia, Paranoid | 1 | + + | |
172 | Sotos Syndrome | 1 | + + | |
173 | Delirium, Dementia, Amnestic, Cognitive Disorders | 1 | + + | |
174 | Leukemia, B-Cell | 1 | + + | |
175 | Hypocalcemia | 1 | + + | |
176 | Hypertension | 1 | + + | |
177 | Hepatitis B | 1 | + + | |
178 | Upper Extremity Deformities, Congenital | 1 | + + | |
179 | Septo-Optic Dysplasia | 1 | + + | |
180 | Cognition Disorders | 1 | + + | |
181 | Hearing Loss, Sensorineural | 1 | + + | |
182 | Hirschsprung Disease | 1 | + + | |
183 | Beckwith-Wiedemann Syndrome | 1 | + + | |
184 | Genetic Diseases, Y-Linked | 1 | + + | |
185 | Heart Block | 1 | + + | |
186 | Renal Insufficiency | 1 | + + | |
187 | Abortion, Habitual | 1 | + + | |
188 | Acrocephalosyndactylia | 1 | + + | |
189 | Cardiac Complexes, Premature | 1 | + + | |
190 | Status Epilepticus | 1 | + + | |
191 | Lissencephaly | 1 | + + | |
192 | Bell Palsy | 1 | + + | |
193 | Oligospermia | 1 | + + | |
194 | Polydactyly | 1 | + + | |
195 | Leukemia, Myeloid | 1 | + + | |
196 | Mitochondrial Diseases | 1 | + + | |
197 | Gonadal Dysgenesis, 46,XY | 1 | + + | |
198 | Genomic Instability | 1 | + + | |
199 | Proteinuria | 1 | + + | |
200 | Waardenburg Syndrome | 1 | + + | |
201 | Takotsubo Cardiomyopathy | 1 | + + | |
202 | Substance Withdrawal Syndrome | 1 | + + | |
203 | Asymptomatic Infections | 1 | + + | |
204 | Rubinstein-Taybi Syndrome | 1 | + + | |
205 | Facial Dermatoses | 1 | + + | |
206 | Fetal Death | 1 | + + | |
207 | Bone Diseases, Developmental | 1 | + + | |
208 | Cerebral Hemorrhage | 1 | + + | |
209 | Leukemia, Basophilic, Acute | 1 | + + | |
210 | Atrioventricular Block | 1 | + + | |
211 | Hypothyroidism | 1 | + + | |
212 | Nephrosis, Lipoid | 1 | + + | |
213 | Tooth Abnormalities | 1 | + + | |
214 | Basal Ganglia Hemorrhage | 1 | + + | |
215 | Heart Failure | 1 | + + | |
216 | Psychotic Disorders | 1 | + + | |
217 | Retinoblastoma | 1 | + + | |
218 | Abnormalities, Radiation-Induced | 1 | + + | |
219 | Glomerulonephritis | 1 | + + | |
220 | Uniparental Disomy | 1 | + + | |
221 | Kearns-Sayre Syndrome | 1 | + + | |
222 | Disorders of Sex Development | 1 | + + | |
223 | Mandibulofacial Dysostosis | 1 | + + | |
224 | Adenocarcinoma | 1 | + + | |
225 | Hypospadias | 1 | + + | |
226 | Neoplasm Recurrence, Local | 1 | + + | |
227 | Abortion, Spontaneous | 1 | + + | |
228 | Anus, Imperforate | 1 | + + | |
229 | Noonan Syndrome | 1 | + + | |
230 | Kidney Diseases | 1 | + + | |
231 | Death, Sudden, Cardiac | 1 | + + | |
232 | Urogenital Abnormalities | 1 | + + | |
233 | Single Umbilical Artery | 1 | + + | |
234 | Cardiomyopathy, Dilated | 1 | + + | |
235 | Muscular Diseases | 1 | + + | |
236 | Pneumonia | 1 | + + | |
237 | Neoplasms, Hormone-Dependent | 1 | + + | |
238 | Kallmann Syndrome | 1 | + + | |
239 | Hypoparathyroidism | 1 | + + | |
240 | Facial Asymmetry | 1 | + + | |
241 | Jacobsen Distal 11q Deletion Syndrome | 1 | + + | |
242 | Leukemia, Monocytic, Acute | 1 | + + | |
243 | Diabetic Nephropathies | 1 | + + | |
244 | Hip Contracture | 1 | + + | |
245 | Hearing Loss | 1 | + + | |
246 | Rare Diseases | 1 | + + | |
247 | Klinefelter Syndrome | 1 | + + | |
248 | Tricuspid Valve Insufficiency | 1 | + + | |