| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Genetic Predisposition to Disease | 100 | + + | |
2 | Tay-Sachs Disease | 67 | + + | |
3 | Gaucher Disease | 64 | + + | |
4 | Fragile X Syndrome | 64 | + + | |
5 | Friedreich Ataxia | 55 | + + | |
6 | Elliptocytosis, Hereditary | 49 | + + | |
7 | Spinocerebellar Ataxias | 49 | + + | |
8 | Leukodystrophy, Metachromatic | 48 | + + | |
9 | Spherocytosis, Hereditary | 47 | + + | |
10 | beta-Thalassemia | 47 | + + | |
11 | alpha 1-Antitrypsin Deficiency | 43 | + + | |
12 | Machado-Joseph Disease | 41 | + + | |
13 | Huntington Disease | 40 | + + | |
14 | Uniparental Disomy | 37 | + + | |
15 | alpha-Thalassemia | 36 | + + | |
16 | Porphyria, Hepatoerythropoietic | 34 | + + | |
17 | Anticipation, Genetic | 33 | + + | |
18 | Cystic Fibrosis | 30 | + + | |
19 | Adrenal Hyperplasia, Congenital | 29 | + + | |
20 | Syndrome | 29 | + + | |
21 | Chromosome Deletion | 27 | + + | |
22 | Genomic Instability | 27 | + + | |
23 | Thrombocytopenia, Neonatal Alloimmune | 26 | + + | |
24 | Congenital Hypothyroidism | 26 | + + | |
25 | Insulin Resistance | 24 | + + | |
26 | Osteogenesis Imperfecta | 24 | + + | |
27 | Hyperlipoproteinemia Type III | 24 | + + | |
28 | Protoporphyria, Erythropoietic | 24 | + + | |
29 | Thrombasthenia | 22 | + + | |
30 | Severe Combined Immunodeficiency | 21 | + + | |
31 | Sandhoff Disease | 21 | + + | |
32 | Muscular Atrophy, Spinal | 21 | + + | |
33 | Amino Acid Metabolism, Inborn Errors | 21 | + + | |
34 | Diseases in Twins | 21 | + + | |
35 | Spinocerebellar Degenerations | 20 | + + | |
36 | Muscular Dystrophy, Facioscapulohumeral | 20 | + + | |
37 | Porphyrias, Hepatic | 20 | + + | |
38 | Binge Drinking | 20 | + + | |
39 | Epidermolysis Bullosa Dystrophica | 19 | + + | |
40 | Gait Ataxia | 19 | + + | |
41 | Fructose Intolerance | 18 | + + | |
42 | Metabolism, Inborn Errors | 18 | + + | |
43 | Bernard-Soulier Syndrome | 18 | + + | |
44 | Cell Transformation, Viral | 18 | + + | |
45 | Ehlers-Danlos Syndrome | 18 | + + | |
46 | Hyperlipoproteinemia Type II | 17 | + + | |
47 | Growth Disorders | 17 | + + | |
48 | Abnormalities, Multiple | 17 | + + | |
49 | Retinoblastoma | 17 | + + | |
50 | Prader-Willi Syndrome | 17 | + + | |
51 | Intellectual Disability | 16 | + + | |
52 | Beckwith-Wiedemann Syndrome | 16 | + + | |
53 | Nondisjunction, Genetic | 16 | + + | |
54 | Chromosome Aberrations | 16 | + + | |
55 | Atrophy | 16 | + + | |
56 | Glycogen Storage Disease Type II | 16 | + + | |
57 | Albinism, Ocular | 16 | + + | |
58 | Goiter | 16 | + + | |
59 | Translocation, Genetic | 16 | + + | |
60 | Genetic Diseases, Inborn | 15 | + + | |
61 | Myotonic Dystrophy | 15 | + + | |
62 | Gangliosidosis, GM1 | 15 | + + | |
63 | Dystonic Disorders | 15 | + + | |
64 | Xeroderma Pigmentosum | 15 | + + | |
65 | Postphlebitic Syndrome | 15 | + + | |
66 | Cockayne Syndrome | 15 | + + | |
67 | Mucopolysaccharidosis II | 15 | + + | |
68 | Muscular Dystrophy, Oculopharyngeal | 14 | + + | |
69 | Cerebellar Ataxia | 14 | + + | |
70 | Muscular Dystrophies, Limb-Girdle | 14 | + + | |
71 | Hypothyroidism | 14 | + + | |
72 | Coproporphyria, Hereditary | 14 | + + | |
73 | Adenomatous Polyposis Coli | 14 | + + | |
74 | Osteochondrodysplasias | 14 | + + | |
75 | Myoclonic Epilepsies, Progressive | 14 | + + | |
76 | Granulomatous Disease, Chronic | 14 | + + | |
77 | Li-Fraumeni Syndrome | 13 | + + | |
78 | Porphyria, Variegate | 13 | + + | |
79 | Gilbert Disease | 13 | + + | |
80 | Mucopolysaccharidosis I | 13 | + + | |
81 | Thrombophilia | 13 | + + | |
82 | Marfan Syndrome | 13 | + + | |
83 | Hemochromatosis | 13 | + + | |
84 | Ataxia | 13 | + + | |
85 | Lipid Metabolism, Inborn Errors | 13 | + + | |
86 | Achondroplasia | 13 | + + | |
87 | Tangier Disease | 13 | + + | |
88 | Lesch-Nyhan Syndrome | 13 | + + | |
89 | Hypobetalipoproteinemias | 13 | + + | |
90 | Muscular Dystrophies | 12 | + + | |
91 | Myasthenic Syndromes, Congenital | 12 | + + | |
92 | Diabetes Mellitus, Type 1 | 12 | + + | |
93 | Phenylketonurias | 12 | + + | |
94 | Rett Syndrome | 12 | + + | |
95 | Angelman Syndrome | 12 | + + | |
96 | Disorders of Sex Development | 12 | + + | |
97 | Aspartylglucosaminuria | 12 | + + | |
98 | Mucopolysaccharidosis IV | 12 | + + | |
99 | Neoplastic Syndromes, Hereditary | 12 | + + | |
100 | Primary Ovarian Insufficiency | 12 | + + | |
101 | Cholesterol Ester Storage Disease | 12 | + + | |
102 | Immunologic Deficiency Syndromes | 12 | + + | |
103 | Tyrosinemias | 11 | + + | |
104 | von Willebrand Diseases | 11 | + + | |
105 | Homocystinuria | 11 | + + | |
106 | Azoospermia | 11 | + + | |
107 | Deficiency Diseases | 11 | + + | |
108 | Developmental Disabilities | 11 | + + | |
109 | Wilms Tumor | 11 | + + | |
110 | Disease Susceptibility | 11 | + + | |
111 | Galactosemias | 11 | + + | |
112 | Chromosome Disorders | 11 | + + | |
113 | Urinary Calculi | 11 | + + | |
114 | Aneuploidy | 10 | + + | |
115 | Demyelinating Autoimmune Diseases, CNS | 10 | + + | |
116 | Gangliosidoses | 10 | + + | |
117 | Genetic Diseases, X-Linked | 10 | + + | |
118 | Mucopolysaccharidosis VII | 10 | + + | |
119 | Neurofibromatosis 2 | 10 | + + | |
120 | Retinitis Pigmentosa | 10 | + + | |
121 | Crigler-Najjar Syndrome | 10 | + + | |
122 | Hyperlipoproteinemia Type I | 10 | + + | |
123 | Thalassemia | 10 | + + | |
124 | Hyperlipoproteinemias | 10 | + + | |
125 | Alzheimer Disease | 10 | + + | |
126 | Disease Progression | 10 | + + | |
127 | Glycosuria, Renal | 10 | + + | |
128 | Gerstmann-Straussler-Scheinker Disease | 10 | + + | |
129 | Hyperbilirubinemia | 10 | + + | |
130 | Porphyrias | 10 | + + | |
131 | Ornithine Carbamoyltransferase Deficiency Disease | 10 | + + | |
132 | Anemia, Hemolytic | 10 | + + | |
133 | Isochromosomes | 10 | + + | |
134 | Myositis, Inclusion Body | 9 | + + | |
135 | Metabolic Diseases | 9 | + + | |
136 | Disease Models, Animal | 9 | + + | |
137 | Prion Diseases | 9 | + + | |
138 | Polyploidy | 9 | + + | |
139 | Hyperinsulinism | 9 | + + | |
140 | Charcot-Marie-Tooth Disease | 9 | + + | |
141 | Retinal Neoplasms | 9 | + + | |
142 | Cutis Laxa | 9 | + + | |
143 | Pseudohypoaldosteronism | 9 | + + | |
144 | Anemia, Hypochromic | 9 | + + | |
145 | Hydatidiform Mole | 9 | + + | |
146 | Factor V Deficiency | 9 | + + | |
147 | Ichthyosis | 9 | + + | |
148 | Porphyria, Erythropoietic | 9 | + + | |
149 | Congenital Disorders of Glycosylation | 9 | + + | |
150 | Thyroid Hormone Resistance Syndrome | 9 | + + | |
151 | Photosensitivity Disorders | 9 | + + | |
152 | Emphysema | 9 | + + | |
153 | Muscular Diseases | 9 | + + | |
154 | Hyperlipidemia, Familial Combined | 9 | + + | |
155 | Hemorrhagic Disorders | 8 | + + | |
156 | Diabetes Mellitus | 8 | + + | |
157 | Retinal Degeneration | 8 | + + | |
158 | Hypertriglyceridemia | 8 | + + | |
159 | Glycogen Storage Disease Type VII | 8 | + + | |
160 | Neuromuscular Diseases | 8 | + + | |
161 | Glycogen Storage Disease Type V | 8 | + + | |
162 | Diabetes Mellitus, Type 2 | 8 | + + | |
163 | Sex Chromosome Aberrations | 8 | + + | |
164 | Respiratory Distress Syndrome, Newborn | 8 | + + | |
165 | Factor XIII Deficiency | 8 | + + | |
166 | Neurofibromatosis 1 | 8 | + + | |
167 | Erythroblastosis, Fetal | 8 | + + | |
168 | Tremor | 8 | + + | |
169 | Mucopolysaccharidosis III | 8 | + + | |
170 | XYY Karyotype | 8 | + + | |
171 | Leukemia, Myelogenous, Chronic, BCR-ABL Positive | 8 | + + | |
172 | Parkinson Disease | 7 | + + | |
173 | Aniridia | 7 | + + | |
174 | Hypercholesterolemia | 7 | + + | |
175 | Wiskott-Aldrich Syndrome | 7 | + + | |
176 | TDP-43 Proteinopathies | 7 | + + | |
177 | Albinism | 7 | + + | |
178 | Congenital Abnormalities | 7 | + + | |
179 | Fibrous Dysplasia, Polyostotic | 7 | + + | |
180 | Craniofacial Abnormalities | 7 | + + | |
181 | Facies | 7 | + + | |
182 | Bone Diseases, Developmental | 7 | + + | |
183 | Autoimmune Diseases | 7 | + + | |
184 | Anemia, Hemolytic, Congenital | 7 | + + | |
185 | Recurrence | 7 | + + | |
186 | Creutzfeldt-Jakob Syndrome | 7 | + + | |
187 | Hair Diseases | 7 | + + | |
188 | von Hippel-Lindau Disease | 7 | + + | |
189 | Hyperlipidemias | 7 | + + | |
190 | Chromosome Breakage | 7 | + + | |
191 | Toxocariasis | 7 | + + | |
192 | Factor VII Deficiency | 7 | + + | |
193 | Kidney Diseases | 7 | + + | |
194 | Hypophosphatasia | 7 | + + | |
195 | Amyloid Neuropathies | 7 | + + | |
196 | Nervous System Diseases | 7 | + + | |
197 | Muscle Hypotonia | 7 | + + | |
198 | Pseudohypoparathyroidism | 7 | + + | |
199 | Hemophilia A | 7 | + + | |
200 | Fetal Diseases | 7 | + + | |
201 | Ataxia Telangiectasia | 7 | + + | |
202 | Abetalipoproteinemia | 7 | + + | |
203 | Arthritis, Rheumatoid | 7 | + + | |
204 | Mitochondrial Diseases | 7 | + + | |
205 | Neoplasms, Multiple Primary | 7 | + + | |
206 | Hereditary Sensory and Motor Neuropathy | 7 | + + | |
207 | Multiple Endocrine Neoplasia Type 1 | 7 | + + | |
208 | Myoclonus | 7 | + + | |
209 | Pyruvate Dehydrogenase Complex Deficiency Disease | 6 | + + | |
210 | Dementia | 6 | + + | |
211 | Turner Syndrome | 6 | + + | |
212 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | 6 | + + | |
213 | Dyskeratosis Congenita | 6 | + + | |
214 | Hearing Loss, Sensorineural | 6 | + + | |
215 | Ring Chromosomes | 6 | + + | |
216 | Multiple Endocrine Neoplasia Type 2a | 6 | + + | |
217 | Chromosome Fragility | 6 | + + | |
218 | Hyperoxaluria, Primary | 6 | + + | |
219 | Lecithin Acyltransferase Deficiency | 6 | + + | |
220 | Schizophrenia | 6 | + + | |
221 | Chromosome Inversion | 6 | + + | |
222 | Pemphigoid, Benign Mucous Membrane | 6 | + + | |
223 | Iron Overload | 6 | + + | |
224 | Limb Deformities, Congenital | 6 | + + | |
225 | Thrombocytopenia | 6 | + + | |
226 | Polycystic Kidney, Autosomal Dominant | 6 | + + | |
227 | Peutz-Jeghers Syndrome | 6 | + + | |
228 | Cataract | 6 | + + | |
229 | Peroxisomal Disorders | 6 | + + | |
230 | Graft vs Host Disease | 6 | + + | |
231 | Microcephaly | 6 | + + | |
232 | Colorectal Neoplasms | 6 | + + | |
233 | Lipodystrophy | 6 | + + | |
234 | Rheumatoid Nodule | 6 | + + | |
235 | Epidermolysis Bullosa Simplex | 6 | + + | |
236 | Protein S Deficiency | 6 | + + | |
237 | Pulmonary Emphysema | 6 | + + | |
238 | Long QT Syndrome | 6 | + + | |
239 | Klinefelter Syndrome | 6 | + + | |
240 | Anemia, Hemolytic, Congenital Nonspherocytic | 6 | + + | |
241 | Colorectal Neoplasms, Hereditary Nonpolyposis | 6 | + + | |
242 | Parkinsonian Disorders | 5 | + + | |
243 | Liver Failure | 5 | + + | |
244 | Connective Tissue Diseases | 5 | + + | |
245 | Fetal Growth Retardation | 5 | + + | |
246 | Hamartoma Syndrome, Multiple | 5 | + + | |
247 | Deafness | 5 | + + | |
248 | Leukemia, Lymphocytic, Chronic, B-Cell | 5 | + + | |
249 | Polycystic Kidney, Autosomal Recessive | 5 | + + | |
250 | Hearing Loss | 5 | + + | |
251 | Trisomy | 5 | + + | |
252 | Uterine Neoplasms | 5 | + + | |
253 | Adenoma | 5 | + + | |
254 | Muscle Weakness | 5 | + + | |
255 | Factor X Deficiency | 5 | + + | |
256 | Obesity | 5 | + + | |
257 | Hirschsprung Disease | 5 | + + | |
258 | Protein C Deficiency | 5 | + + | |
259 | Seizures | 5 | + + | |
260 | Hypogonadism | 5 | + + | |
261 | Glomerulonephritis, Membranoproliferative | 5 | + + | |
262 | Mycobacterium Infections | 5 | + + | |
263 | Liver Cirrhosis | 5 | + + | |
264 | Cognition Disorders | 5 | + + | |
265 | Monosomy | 5 | + + | |
266 | Ectodermal Dysplasia | 5 | + + | |
267 | Cardiomyopathies | 5 | + + | |
268 | Breast Neoplasms | 5 | + + | |
269 | Puberty, Precocious | 5 | + + | |
270 | Splenomegaly | 5 | + + | |
271 | Macular Degeneration | 5 | + + | |
272 | Blood Group Incompatibility | 5 | + + | |
273 | Eye Abnormalities | 4 | + + | |
274 | Anemia | 4 | + + | |
275 | Leukemia | 4 | + + | |
276 | Osteosarcoma | 4 | + + | |
277 | Venous Thrombosis | 4 | + + | |
278 | Alcoholism | 4 | + + | |
279 | Neoplasms, Second Primary | 4 | + + | |
280 | Kidney Neoplasms | 4 | + + | |
281 | Epilepsy | 4 | + + | |
282 | Liver Diseases | 4 | + + | |
283 | Colonic Neoplasms | 4 | + + | |
284 | Leukemia, Myeloid, Acute | 4 | + + | |
285 | Myelodysplastic Syndromes | 4 | + + | |
286 | Pregnancy Complications | 4 | + + | |
287 | HIV Infections | 4 | + + | |
288 | Lung Diseases | 4 | + + | |
289 | Cell Transformation, Neoplastic | 4 | + + | |
290 | Cleft Palate | 4 | + + | |
291 | Neutropenia | 4 | + + | |
292 | Hydrops Fetalis | 3 | + + | |
293 | Chronic Disease | 3 | + + | |
294 | Stroke | 3 | + + | |
295 | Telangiectasia, Hereditary Hemorrhagic | 3 | + + | |
296 | Hemorrhage | 3 | + + | |
297 | Lupus Erythematosus, Systemic | 3 | + + | |
298 | Skin Neoplasms | 3 | + + | |
299 | Carcinoma | 3 | + + | |
300 | Acute Disease | 3 | + + | |
301 | Adenocarcinoma | 3 | + + | |
302 | Liver Neoplasms | 3 | + + | |
303 | Thrombosis | 2 | + + | |
304 | Thyroid Neoplasms | 2 | + + | |
305 | Brain Neoplasms | 2 | + + | |
306 | Lung Neoplasms | 2 | + + | |