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DiseasesRatingBibliogr.Expand
1Genetic Predisposition to Disease100+ 
2Tay-Sachs Disease67+ 
3Gaucher Disease64+ 
4Fragile X Syndrome64+ 
5Friedreich Ataxia55+ 
6Elliptocytosis, Hereditary49+ 
7Spinocerebellar Ataxias49+ 
8Leukodystrophy, Metachromatic48+ 
9Spherocytosis, Hereditary47+ 
10beta-Thalassemia47+ 
11alpha 1-Antitrypsin Deficiency43+ 
12Machado-Joseph Disease41+ 
13Huntington Disease40+ 
14Uniparental Disomy37+ 
15alpha-Thalassemia36+ 
16Porphyria, Hepatoerythropoietic34+ 
17Anticipation, Genetic33+ 
18Cystic Fibrosis30+ 
19Adrenal Hyperplasia, Congenital29+ 
20Syndrome29+ 
21Chromosome Deletion27+ 
22Genomic Instability27+ 
23Thrombocytopenia, Neonatal Alloimmune26+ 
24Congenital Hypothyroidism26+ 
25Insulin Resistance24+ 
26Osteogenesis Imperfecta24+ 
27Hyperlipoproteinemia Type III24+ 
28Protoporphyria, Erythropoietic24+ 
29Thrombasthenia22+ 
30Severe Combined Immunodeficiency21+ 
31Sandhoff Disease21+ 
32Muscular Atrophy, Spinal21+ 
33Amino Acid Metabolism, Inborn Errors21+ 
34Diseases in Twins21+ 
35Spinocerebellar Degenerations20+ 
36Muscular Dystrophy, Facioscapulohumeral20+ 
37Porphyrias, Hepatic20+ 
38Binge Drinking20+ 
39Epidermolysis Bullosa Dystrophica19+ 
40Gait Ataxia19+ 
41Fructose Intolerance18+ 
42Metabolism, Inborn Errors18+ 
43Bernard-Soulier Syndrome18+ 
44Cell Transformation, Viral18+ 
45Ehlers-Danlos Syndrome18+ 
46Hyperlipoproteinemia Type II17+ 
47Growth Disorders17+ 
48Abnormalities, Multiple17+ 
49Retinoblastoma17+ 
50Prader-Willi Syndrome17+ 
51Intellectual Disability16+ 
52Beckwith-Wiedemann Syndrome16+ 
53Nondisjunction, Genetic16+ 
54Chromosome Aberrations16+ 
55Atrophy16+ 
56Glycogen Storage Disease Type II16+ 
57Albinism, Ocular16+ 
58Goiter16+ 
59Translocation, Genetic16+ 
60Genetic Diseases, Inborn15+ 
61Myotonic Dystrophy15+ 
62Gangliosidosis, GM115+ 
63Dystonic Disorders15+ 
64Xeroderma Pigmentosum15+ 
65Postphlebitic Syndrome15+ 
66Cockayne Syndrome15+ 
67Mucopolysaccharidosis II15+ 
68Muscular Dystrophy, Oculopharyngeal14+ 
69Cerebellar Ataxia14+ 
70Muscular Dystrophies, Limb-Girdle14+ 
71Hypothyroidism14+ 
72Coproporphyria, Hereditary14+ 
73Adenomatous Polyposis Coli14+ 
74Osteochondrodysplasias14+ 
75Myoclonic Epilepsies, Progressive14+ 
76Granulomatous Disease, Chronic14+ 
77Li-Fraumeni Syndrome13+ 
78Porphyria, Variegate13+ 
79Gilbert Disease13+ 
80Mucopolysaccharidosis I13+ 
81Thrombophilia13+ 
82Marfan Syndrome13+ 
83Hemochromatosis13+ 
84Ataxia13+ 
85Lipid Metabolism, Inborn Errors13+ 
86Achondroplasia13+ 
87Tangier Disease13+ 
88Lesch-Nyhan Syndrome13+ 
89Hypobetalipoproteinemias13+ 
90Muscular Dystrophies12+ 
91Myasthenic Syndromes, Congenital12+ 
92Diabetes Mellitus, Type 112+ 
93Phenylketonurias12+ 
94Rett Syndrome12+ 
95Angelman Syndrome12+ 
96Disorders of Sex Development12+ 
97Aspartylglucosaminuria12+ 
98Mucopolysaccharidosis IV12+ 
99Neoplastic Syndromes, Hereditary12+ 
100Primary Ovarian Insufficiency12+ 
101Cholesterol Ester Storage Disease12+ 
102Immunologic Deficiency Syndromes12+ 
103Tyrosinemias11+ 
104von Willebrand Diseases11+ 
105Homocystinuria11+ 
106Azoospermia11+ 
107Deficiency Diseases11+ 
108Developmental Disabilities11+ 
109Wilms Tumor11+ 
110Disease Susceptibility11+ 
111Galactosemias11+ 
112Chromosome Disorders11+ 
113Urinary Calculi11+ 
114Aneuploidy10+ 
115Demyelinating Autoimmune Diseases, CNS10+ 
116Gangliosidoses10+ 
117Genetic Diseases, X-Linked10+ 
118Mucopolysaccharidosis VII10+ 
119Neurofibromatosis 210+ 
120Retinitis Pigmentosa10+ 
121Crigler-Najjar Syndrome10+ 
122Hyperlipoproteinemia Type I10+ 
123Thalassemia10+ 
124Hyperlipoproteinemias10+ 
125Alzheimer Disease10+ 
126Disease Progression10+ 
127Glycosuria, Renal10+ 
128Gerstmann-Straussler-Scheinker Disease10+ 
129Hyperbilirubinemia10+ 
130Porphyrias10+ 
131Ornithine Carbamoyltransferase Deficiency Disease10+ 
132Anemia, Hemolytic10+ 
133Isochromosomes10+ 
134Myositis, Inclusion Body9+ 
135Metabolic Diseases9+ 
136Disease Models, Animal9+ 
137Prion Diseases9+ 
138Polyploidy9+ 
139Hyperinsulinism9+ 
140Charcot-Marie-Tooth Disease9+ 
141Retinal Neoplasms9+ 
142Cutis Laxa9+ 
143Pseudohypoaldosteronism9+ 
144Anemia, Hypochromic9+ 
145Hydatidiform Mole9+ 
146Factor V Deficiency9+ 
147Ichthyosis9+ 
148Porphyria, Erythropoietic9+ 
149Congenital Disorders of Glycosylation9+ 
150Thyroid Hormone Resistance Syndrome9+ 
151Photosensitivity Disorders9+ 
152Emphysema9+ 
153Muscular Diseases9+ 
154Hyperlipidemia, Familial Combined9+ 
155Hemorrhagic Disorders8+ 
156Diabetes Mellitus8+ 
157Retinal Degeneration8+ 
158Hypertriglyceridemia8+ 
159Glycogen Storage Disease Type VII8+ 
160Neuromuscular Diseases8+ 
161Glycogen Storage Disease Type V8+ 
162Diabetes Mellitus, Type 28+ 
163Sex Chromosome Aberrations8+ 
164Respiratory Distress Syndrome, Newborn8+ 
165Factor XIII Deficiency8+ 
166Neurofibromatosis 18+ 
167Erythroblastosis, Fetal8+ 
168Tremor8+ 
169Mucopolysaccharidosis III8+ 
170XYY Karyotype8+ 
171Leukemia, Myelogenous, Chronic, BCR-ABL Positive8+ 
172Parkinson Disease7+ 
173Aniridia7+ 
174Hypercholesterolemia7+ 
175Wiskott-Aldrich Syndrome7+ 
176TDP-43 Proteinopathies7+ 
177Albinism7+ 
178Congenital Abnormalities7+ 
179Fibrous Dysplasia, Polyostotic7+ 
180Craniofacial Abnormalities7+ 
181Facies7+ 
182Bone Diseases, Developmental7+ 
183Autoimmune Diseases7+ 
184Anemia, Hemolytic, Congenital7+ 
185Recurrence7+ 
186Creutzfeldt-Jakob Syndrome7+ 
187Hair Diseases7+ 
188von Hippel-Lindau Disease7+ 
189Hyperlipidemias7+ 
190Chromosome Breakage7+ 
191Toxocariasis7+ 
192Factor VII Deficiency7+ 
193Kidney Diseases7+ 
194Hypophosphatasia7+ 
195Amyloid Neuropathies7+ 
196Nervous System Diseases7+ 
197Muscle Hypotonia7+ 
198Pseudohypoparathyroidism7+ 
199Hemophilia A7+ 
200Fetal Diseases7+ 
201Ataxia Telangiectasia7+ 
202Abetalipoproteinemia7+ 
203Arthritis, Rheumatoid7+ 
204Mitochondrial Diseases7+ 
205Neoplasms, Multiple Primary7+ 
206Hereditary Sensory and Motor Neuropathy7+ 
207Multiple Endocrine Neoplasia Type 17+ 
208Myoclonus7+ 
209Pyruvate Dehydrogenase Complex Deficiency Disease6+ 
210Dementia6+ 
211Turner Syndrome6+ 
212Precursor Cell Lymphoblastic Leukemia-Lymphoma6+ 
213Dyskeratosis Congenita6+ 
214Hearing Loss, Sensorineural6+ 
215Ring Chromosomes6+ 
216Multiple Endocrine Neoplasia Type 2a6+ 
217Chromosome Fragility6+ 
218Hyperoxaluria, Primary6+ 
219Lecithin Acyltransferase Deficiency6+ 
220Schizophrenia6+ 
221Chromosome Inversion6+ 
222Pemphigoid, Benign Mucous Membrane6+ 
223Iron Overload6+ 
224Limb Deformities, Congenital6+ 
225Thrombocytopenia6+ 
226Polycystic Kidney, Autosomal Dominant6+ 
227Peutz-Jeghers Syndrome6+ 
228Cataract6+ 
229Peroxisomal Disorders6+ 
230Graft vs Host Disease6+ 
231Microcephaly6+ 
232Colorectal Neoplasms6+ 
233Lipodystrophy6+ 
234Rheumatoid Nodule6+ 
235Epidermolysis Bullosa Simplex6+ 
236Protein S Deficiency6+ 
237Pulmonary Emphysema6+ 
238Long QT Syndrome6+ 
239Klinefelter Syndrome6+ 
240Anemia, Hemolytic, Congenital Nonspherocytic6+ 
241Colorectal Neoplasms, Hereditary Nonpolyposis6+ 
242Parkinsonian Disorders5+ 
243Liver Failure5+ 
244Connective Tissue Diseases5+ 
245Fetal Growth Retardation5+ 
246Hamartoma Syndrome, Multiple5+ 
247Deafness5+ 
248Leukemia, Lymphocytic, Chronic, B-Cell5+ 
249Polycystic Kidney, Autosomal Recessive5+ 
250Hearing Loss5+ 
251Trisomy5+ 
252Uterine Neoplasms5+ 
253Adenoma5+ 
254Muscle Weakness5+ 
255Factor X Deficiency5+ 
256Obesity5+ 
257Hirschsprung Disease5+ 
258Protein C Deficiency5+ 
259Seizures5+ 
260Hypogonadism5+ 
261Glomerulonephritis, Membranoproliferative5+ 
262Mycobacterium Infections5+ 
263Liver Cirrhosis5+ 
264Cognition Disorders5+ 
265Monosomy5+ 
266Ectodermal Dysplasia5+ 
267Cardiomyopathies5+ 
268Breast Neoplasms5+ 
269Puberty, Precocious5+ 
270Splenomegaly5+ 
271Macular Degeneration5+ 
272Blood Group Incompatibility5+ 
273Eye Abnormalities4+ 
274Anemia4+ 
275Leukemia4+ 
276Osteosarcoma4+ 
277Venous Thrombosis4+ 
278Alcoholism4+ 
279Neoplasms, Second Primary4+ 
280Kidney Neoplasms4+ 
281Epilepsy4+ 
282Liver Diseases4+ 
283Colonic Neoplasms4+ 
284Leukemia, Myeloid, Acute4+ 
285Myelodysplastic Syndromes4+ 
286Pregnancy Complications4+ 
287HIV Infections4+ 
288Lung Diseases4+ 
289Cell Transformation, Neoplastic4+ 
290Cleft Palate4+ 
291Neutropenia4+ 
292Hydrops Fetalis3+ 
293Chronic Disease3+ 
294Stroke3+ 
295Telangiectasia, Hereditary Hemorrhagic3+ 
296Hemorrhage3+ 
297Lupus Erythematosus, Systemic3+ 
298Skin Neoplasms3+ 
299Carcinoma3+ 
300Acute Disease3+ 
301Adenocarcinoma3+ 
302Liver Neoplasms3+ 
303Thrombosis2+ 
304Thyroid Neoplasms2+ 
305Brain Neoplasms2+ 
306Lung Neoplasms2+ 

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