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DiseasesRatingBibliogr.Expand
1Chromosome Deletion100+ 
2Translocation, Genetic76+ 
3Intellectual Disability66+ 
4Syndrome65+ 
5Genetic Predisposition to Disease62+ 
6Chromosome Aberrations60+ 
7Abnormalities, Multiple55+ 
8Chromosome Disorders48+ 
9Muscular Dystrophies47+ 
10Sex Chromosome Aberrations44+ 
11Dystonia Musculorum Deformans32+ 
12Retinitis Pigmentosa29+ 
13Beckwith-Wiedemann Syndrome29+ 
14Microcephaly29+ 
15Spinocerebellar Degenerations28+ 
16Diseases in Twins28+ 
17Chromosome Breakage26+ 
18Ring Chromosomes26+ 
19DiGeorge Syndrome26+ 
20Angelman Syndrome25+ 
21Growth Disorders25+ 
22Retinoblastoma24+ 
23Spinocerebellar Ataxias24+ 
24Chromosome Inversion24+ 
25Facies24+ 
26Developmental Disabilities23+ 
27Uniparental Disomy23+ 
28Trisomy23+ 
29Williams Syndrome23+ 
30Choroideremia23+ 
31Huntington Disease22+ 
32Craniofacial Abnormalities22+ 
33Precursor T-Cell Lymphoblastic Leukemia-Lymphoma22+ 
34Muscle Hypotonia21+ 
35Thalassemia21+ 
36Fragile X Syndrome21+ 
37Aneuploidy20+ 
38Hand Deformities, Congenital20+ 
39Parkinsonian Disorders20+ 
40Dementia20+ 
41Cleft Palate20+ 
42Polydactyly19+ 
43Hearing Loss19+ 
44Disorders of Sex Development19+ 
45Disease Susceptibility19+ 
46Genetic Diseases, X-Linked19+ 
47Foot Deformities, Congenital19+ 
48Cataract18+ 
49Charcot-Marie-Tooth Disease18+ 
50Reflex, Babinski18+ 
51Deafness18+ 
52Wiskott-Aldrich Syndrome17+ 
53Autistic Disorder17+ 
54Myotonic Dystrophy17+ 
55Machado-Joseph Disease17+ 
56Eye Diseases, Hereditary17+ 
57Gonadoblastoma17+ 
58Skin Abnormalities16+ 
59Microphthalmos16+ 
60Lewy Body Disease16+ 
61Psychomotor Disorders16+ 
62Parkinson Disease16+ 
63Aniridia16+ 
64Alzheimer Disease16+ 
65Eye Abnormalities15+ 
66Hypopigmentation15+ 
67Hereditary Sensory and Motor Neuropathy15+ 
68Monosomy15+ 
69Leukemia-Lymphoma, Adult T-Cell15+ 
70Albinism, Oculocutaneous15+ 
71Nails, Malformed15+ 
72Holoprosencephaly15+ 
73Cerebral Amyloid Angiopathy, Familial15+ 
74Hypogonadism15+ 
75Silver-Russell Syndrome15+ 
76Turner Syndrome15+ 
77Dwarfism15+ 
78Craniomandibular Disorders15+ 
79Epilepsy, Benign Neonatal15+ 
80Language Development Disorders14+ 
81Pigmentation Disorders14+ 
82Craniosynostoses14+ 
83Limb Deformities, Congenital14+ 
84Gonadal Dysgenesis14+ 
85Hirschsprung Disease14+ 
86Kallmann Syndrome14+ 
87Color Vision Defects14+ 
88Failure to Thrive14+ 
89Hearing Loss, Sensorineural14+ 
90Seizures, Febrile13+ 
91Cerebellar Ataxia13+ 
92Chromosome Fragility13+ 
93WAGR Syndrome13+ 
94Nervous System Malformations13+ 
95Precursor B-Cell Lymphoblastic Leukemia-Lymphoma13+ 
96Polycystic Kidney, Autosomal Dominant13+ 
97Wilms Tumor13+ 
98Disease Progression13+ 
99Chondrodysplasia Punctata13+ 
100Hand Deformities13+ 
101Achondroplasia13+ 
102Precursor Cell Lymphoblastic Leukemia-Lymphoma13+ 
103Neuromuscular Diseases12+ 
104Neurofibromatosis 212+ 
105Atrophy12+ 
106Waardenburg Syndrome12+ 
107Epilepsy12+ 
108Speech Disorders12+ 
109Oligospermia12+ 
110Disease Models, Animal12+ 
111Nondisjunction, Genetic12+ 
112Gonadal Dysgenesis, 46,XY12+ 
113Genomic Instability11+ 
114Nerve Degeneration11+ 
115Sex Chromosome Disorders11+ 
116Ichthyosis11+ 
117Multiple Endocrine Neoplasia Type 111+ 
118Ataxia Telangiectasia11+ 
119Lymphoma, Follicular11+ 
120Muscular Dystrophy, Duchenne11+ 
121Agenesis of Corpus Callosum11+ 
122Microsatellite Instability11+ 
123Anomia11+ 
124Immunologic Deficiency Syndromes11+ 
125Amyotrophic Lateral Sclerosis11+ 
126Muscular Diseases11+ 
127Apraxias11+ 
128Osteochondrodysplasias11+ 
129Albinism11+ 
130Malignant Hyperthermia11+ 
131Leukemia, Lymphocytic, Chronic, B-Cell11+ 
132Ectodermal Dysplasia10+ 
133Primary Ovarian Insufficiency10+ 
134Mental Retardation, X-Linked10+ 
135Chorea10+ 
136Menkes Kinky Hair Syndrome10+ 
137Oculocerebrorenal Syndrome10+ 
138Hypospadias10+ 
139Ovotesticular Disorders of Sex Development10+ 
140Cleft Lip10+ 
141Nail-Patella Syndrome10+ 
142Genetic Diseases, Inborn10+ 
143Adrenal Insufficiency10+ 
144Adenomatous Polyposis Coli10+ 
145Bloom Syndrome10+ 
146Lymphoma, Mantle-Cell10+ 
147Optic Atrophy, Autosomal Dominant10+ 
148Respiration Disorders9+ 
149Neurofibromatosis 19+ 
150Epilepsy, Generalized9+ 
151Agammaglobulinemia9+ 
152Abnormal Karyotype9+ 
153beta-Thalassemia9+ 
154Dystonia9+ 
155Gait Ataxia9+ 
156Syndactyly9+ 
157Cystic Fibrosis9+ 
158Down Syndrome9+ 
159Noonan Syndrome9+ 
160Mucopolysaccharidosis II9+ 
161Burkitt Lymphoma9+ 
162Heart Defects, Congenital9+ 
163Coloboma9+ 
164Skin Diseases, Genetic9+ 
165Pseudohypoparathyroidism9+ 
166Frontotemporal Lobar Degeneration9+ 
167Seizures9+ 
168Ataxia9+ 
169Retinal Degeneration9+ 
170Asperger Syndrome9+ 
171Cardiomyopathy, Restrictive9+ 
172Birth Weight9+ 
173Galactosemias9+ 
174Leukemia, T-Cell8+ 
175Leukemia, Myeloid8+ 
176Scotoma8+ 
177Granulomatous Disease, Chronic8+ 
178Muscular Dystrophy, Facioscapulohumeral8+ 
179Lymphoma, B-Cell8+ 
180Severe Combined Immunodeficiency8+ 
181Vitreoretinopathy, Proliferative8+ 
182Crigler-Najjar Syndrome8+ 
183Leukemia, Myeloid, Acute8+ 
184Myopathies, Nemaline8+ 
185Neoplastic Syndromes, Hereditary8+ 
186Focal Dermal Hypoplasia8+ 
187Acrocephalosyndactylia8+ 
188Eye Neoplasms8+ 
189Neoplasms, Multiple Primary8+ 
190Spinal Muscular Atrophies of Childhood8+ 
191Polycystic Kidney, Autosomal Recessive8+ 
192Aphasia8+ 
193Multiple System Atrophy8+ 
194Rett Syndrome8+ 
195Retinal Neoplasms8+ 
196Blindness8+ 
197Micrognathism8+ 
198alpha-Thalassemia8+ 
199Graft vs Host Disease8+ 
200Fetal Diseases8+ 
201Contracture8+ 
202Dandy-Walker Syndrome8+ 
203Leukemia, Lymphoid8+ 
204Hemoglobinopathies8+ 
205Muscular Atrophy, Spinal7+ 
206Diffuse Cerebral Sclerosis of Schilder7+ 
207Friedreich Ataxia7+ 
208Muscle Spasticity7+ 
209Ellis-Van Creveld Syndrome7+ 
210Albinism, Ocular7+ 
211Fibromatosis, Gingival7+ 
212Plaque, Amyloid7+ 
213Congenital Abnormalities7+ 
214Mental Disorders7+ 
215Memory Disorders7+ 
216Chromosome Duplication7+ 
217Language Disorders7+ 
218Learning Disorders7+ 
219Hypotrichosis7+ 
220Leukemia, Prolymphocytic7+ 
221Myeloproliferative Disorders7+ 
222Metabolic Diseases7+ 
223Exostoses, Multiple Hereditary7+ 
224Lymphoma, Non-Hodgkin7+ 
225Isochromosomes7+ 
226Pierre Robin Syndrome7+ 
227Epilepsies, Myoclonic7+ 
228Hypertelorism7+ 
229Bone Diseases, Developmental7+ 
230Schizophrenia7+ 
231Blepharoptosis7+ 
232Supranuclear Palsy, Progressive7+ 
233Macular Degeneration7+ 
234Nephritis, Hereditary7+ 
235Hemophilia A7+ 
236Blepharophimosis7+ 
237Ectromelia7+ 
238Porokeratosis7+ 
239Anus, Imperforate6+ 
240Leukemia, B-Cell6+ 
241Muscular Atrophy6+ 
242Osteopetrosis6+ 
243Skin Neoplasms6+ 
244Cafe-au-Lait Spots6+ 
245Cell Transformation, Neoplastic6+ 
246Muscle Weakness6+ 
247Cell Transformation, Viral6+ 
248Anemia, Hemolytic, Congenital6+ 
249Ornithine Carbamoyltransferase Deficiency Disease6+ 
250Gliosis6+ 
251Obesity6+ 
252von Hippel-Lindau Disease6+ 
253Tuberous Sclerosis6+ 
254Anophthalmos6+ 
255Melanoma6+ 
256Marfan Syndrome6+ 
257Alopecia6+ 
258Adenoma6+ 
259Spasms, Infantile6+ 
260Oligodendroglioma6+ 
261Corneal Dystrophies, Hereditary6+ 
262Diabetes Mellitus6+ 
263Leukemia, Myelogenous, Chronic, BCR-ABL Positive6+ 
264Brain Diseases6+ 
265Fetal Growth Retardation6+ 
266Endocrine Gland Neoplasms6+ 
267Infertility, Male6+ 
268Brain Neoplasms6+ 
269Hamartoma Syndrome, Multiple6+ 
270Retinal Diseases6+ 
271Leukemia, Monocytic, Acute6+ 
272Colorectal Neoplasms, Hereditary Nonpolyposis6+ 
273Urinary Incontinence6+ 
274Klinefelter Syndrome6+ 
275Lymphocytosis6+ 
276Hydatidiform Mole6+ 
277Polycystic Kidney Diseases6+ 
278Recurrence6+ 
279Hemochromatosis5+ 
280Demyelinating Diseases5+ 
281Infant, Newborn, Diseases5+ 
282Myelodysplastic Syndromes5+ 
283Leukemia, Myelomonocytic, Acute5+ 
284Neuronal Ceroid-Lipofuscinoses5+ 
285Cardiomyopathy, Hypertrophic5+ 
286Ocular Motility Disorders5+ 
287Hypoparathyroidism5+ 
288Tooth Abnormalities5+ 
289Leukemia5+ 
290Myoclonus5+ 
291Neuroblastoma5+ 
292Abdominal Neoplasms5+ 
293Anxiety Disorders5+ 
294Neoplasms, Second Primary5+ 
295Osteogenesis Imperfecta5+ 
296Philadelphia Chromosome5+ 
297Hemophilia B5+ 
298Ovarian Neoplasms5+ 
299Kidney Neoplasms5+ 
300Cerebral Infarction5+ 
301Adrenal Cortex Neoplasms5+ 
302Metabolism, Inborn Errors5+ 
303Meningioma5+ 
304Tourette Syndrome5+ 
305Cognition Disorders5+ 
306Cardiomyopathy, Dilated5+ 
307Diabetes Mellitus, Type 15+ 
308Paraplegia5+ 
309Autonomic Nervous System Diseases5+ 
310Basal Ganglia Diseases5+ 
311Fetal Death5+ 
312Amino Acid Metabolism, Inborn Errors5+ 
313Nervous System Diseases5+ 
314Acromegaly5+ 
315Meningeal Neoplasms4+ 
316Breast Neoplasms4+ 
317Hamartoma4+ 
318Hernia, Diaphragmatic4+ 
319Eye Diseases4+ 
320Hypertrophy4+ 
321Long QT Syndrome4+ 
322Adrenal Hyperplasia, Congenital4+ 
323Nephritis, Interstitial4+ 
324Pain, Intractable4+ 
325Bipolar Disorder4+ 
326Colonic Neoplasms4+ 
327Blast Crisis4+ 
328Lymphoproliferative Disorders4+ 
329Diabetes Mellitus, Type 24+ 
330Anemia4+ 
331Stomach Neoplasms4+ 
332Lymphoma, Large B-Cell, Diffuse3+ 
333Carcinoma3+ 
334Uterine Neoplasms3+ 
335Kidney Diseases3+ 
336Hydrocephalus3+ 
337Lymphoma3+ 
338Adenocarcinoma3+ 
339Autoimmune Diseases3+ 
340Carcinoma, Squamous Cell3+ 
341Chronic Disease3+ 
342Liver Neoplasms3+ 
343Kidney Failure, Chronic3+ 
344Acute Disease2+ 
345Neoplasm Recurrence, Local2+ 
346Lung Neoplasms2+ 
347Postoperative Complications1+ 

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