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DiseasesRatingBibliogr.Expand
1Translocation, Genetic100+ 
2Chromosome Aberrations85+ 
3Aneuploidy59+ 
4Chromosome Deletion51+ 
5Trisomy48+ 
6Chromosome Disorders48+ 
7Chromosome Breakage41+ 
8Ring Chromosomes39+ 
9Abnormalities, Multiple38+ 
10Chromosome Inversion37+ 
11Monosomy35+ 
12Leukemia, Myeloid, Acute31+ 
13Isochromosomes31+ 
14Intellectual Disability30+ 
15Sex Chromosome Aberrations30+ 
16Developmental Disabilities26+ 
17Leukemia, Myelogenous, Chronic, BCR-ABL Positive25+ 
18Infertility, Male25+ 
19Myelodysplastic Syndromes23+ 
20Oligospermia22+ 
21XYY Karyotype21+ 
22Infertility20+ 
23DiGeorge Syndrome20+ 
24Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative20+ 
25Syndrome19+ 
26Lymphoma, Mantle-Cell19+ 
27Polyploidy18+ 
28Growth Disorders18+ 
29Leukemia, Myelomonocytic, Acute18+ 
30Precursor Cell Lymphoblastic Leukemia-Lymphoma17+ 
31Down Syndrome17+ 
32Leukemia, Promyelocytic, Acute17+ 
33Philadelphia Chromosome16+ 
34Craniofacial Abnormalities16+ 
35Leukemia, Lymphocytic, Chronic, B-Cell16+ 
36Leukemia, Erythroblastic, Acute15+ 
37Lymphoma, Follicular15+ 
38Angelman Syndrome14+ 
39Gonadal Dysgenesis, 46,XX14+ 
40Abortion, Habitual14+ 
41Chromosomal Instability14+ 
42Leukemia, Monocytic, Acute14+ 
43Chromosome Duplication14+ 
44Klinefelter Syndrome14+ 
45Anemia, Refractory14+ 
46Neoplasms, Adipose Tissue13+ 
47Primary Ovarian Insufficiency13+ 
48Turner Syndrome13+ 
49Sarcoma, Synovial13+ 
50Abnormal Karyotype13+ 
51Nondisjunction, Genetic13+ 
52Facies12+ 
53Genetic Diseases, Inborn12+ 
54Sex Chromosome Disorders12+ 
55Uniparental Disomy12+ 
56Leukemia, Myeloid12+ 
57Sarcoma, Ewing11+ 
58Cell Transformation, Neoplastic11+ 
59Blast Crisis11+ 
60Micronuclei, Chromosome-Defective11+ 
61Burkitt Lymphoma10+ 
62Williams Syndrome10+ 
63Brain Neoplasms10+ 
64Leukemia, Myelomonocytic, Chronic10+ 
65Tetraploidy10+ 
66Neoplasms, Second Primary10+ 
67Congenital Abnormalities10+ 
68Hypertelorism10+ 
69Holoprosencephaly10+ 
70Gonadal Dysgenesis, Mixed10+ 
71Glioblastoma10+ 
72Dental Fissures10+ 
73Microcephaly10+ 
74Cri-du-Chat Syndrome10+ 
75Neuroectodermal Tumors, Primitive10+ 
76Sarcoma, Clear Cell10+ 
77Psychomotor Disorders9+ 
78Fetal Diseases9+ 
79Muscle Hypotonia9+ 
80Leukemia, Biphenotypic, Acute9+ 
81Disease Progression9+ 
82Neoplasm, Residual9+ 
83Hematologic Neoplasms9+ 
84Azoospermia8+ 
85Leukemia, Myeloid, Chronic-Phase8+ 
86Lymphoma, B-Cell8+ 
87Chromosome Fragility8+ 
88Genetic Predisposition to Disease8+ 
89Skin Neoplasms8+ 
90Autistic Disorder8+ 
91Fetal Growth Retardation8+ 
92Diseases in Twins8+ 
93Oligodendroglioma8+ 
94Leukemia, B-Cell8+ 
95Neoplasm Recurrence, Local8+ 
96Heart Defects, Congenital8+ 
97Gonadoblastoma8+ 
98Neoplasms, Squamous Cell8+ 
99Acute Disease8+ 
100Cleft Palate8+ 
101Language Development Disorders7+ 
102Kidney Neoplasms7+ 
103Epiretinal Membrane7+ 
104Tetrasomy7+ 
105Pigmentation Disorders7+ 
106Medulloblastoma7+ 
107Soft Tissue Neoplasms7+ 
108Precursor T-Cell Lymphoblastic Leukemia-Lymphoma7+ 
109Lead Poisoning7+ 
110Asthenozoospermia7+ 
111Myeloproliferative Disorders7+ 
112Osteoradionecrosis7+ 
113Neuroblastoma7+ 
114Gonadal Dysgenesis, 46,XY7+ 
115Anetoderma7+ 
116Meningeal Neoplasms7+ 
117Disorders of Sex Development7+ 
118Erythrasma7+ 
119Oligohydramnios7+ 
120Melanoma6+ 
121Leukemia6+ 
122Gonadal Dysgenesis6+ 
123Dermatofibrosarcoma6+ 
124Anemia, Refractory, with Excess of Blasts6+ 
125Leukemia, Megakaryoblastic, Acute6+ 
126Pyelectasis6+ 
127Precancerous Conditions6+ 
128Ichthyosis, X-Linked6+ 
129Jacobsen Distal 11q Deletion Syndrome6+ 
130Musculoskeletal Abnormalities6+ 
131Multiple Myeloma6+ 
132Meningioma6+ 
133Rhabdomyosarcoma, Alveolar6+ 
134Gliosarcoma6+ 
135Abortion, Spontaneous6+ 
136Bone Neoplasms6+ 
137Learning Disorders6+ 
138Sarcoma6+ 
139Coloboma6+ 
140Papilloma, Intraductal6+ 
141Cleft Lip6+ 
142Leukemia-Lymphoma, Adult T-Cell6+ 
143Relapsing Fever6+ 
144Porphyria, Erythropoietic5+ 
145Retinal Diseases5+ 
146Adenoma, Oxyphilic5+ 
147Lymphoma, Large B-Cell, Diffuse5+ 
148Neuroectodermal Tumors, Primitive, Peripheral5+ 
149Porphyrias5+ 
150Myopia, Degenerative5+ 
151Fanconi Anemia5+ 
152Mental Retardation, X-Linked5+ 
153Liposarcoma5+ 
154Sarcoma, Myeloid5+ 
155Lung Neoplasms5+ 
156Obesity5+ 
157WAGR Syndrome5+ 
158Retinal Perforations5+ 
159Amenorrhea4+ 
160Cerebellar Neoplasms4+ 
161Lymphoma, B-Cell, Marginal Zone4+ 
162Carcinoma4+ 
163Recurrence4+ 
164Neoplasms, Multiple Primary4+ 
165Lipoma4+ 
166Histiocytoma, Malignant Fibrous4+ 
167Uterine Neoplasms4+ 
168Charcot-Marie-Tooth Disease4+ 
169Nevus, Epithelioid and Spindle Cell4+ 
170Breast Neoplasms4+ 
171Leukemia, Prolymphocytic4+ 
172Rhabdoid Tumor4+ 
173Clubfoot4+ 
174Hearing Loss4+ 
175Neoplasm Invasiveness4+ 
176Paget Disease, Extramammary4+ 
177Syndactyly4+ 
178Extravasation of Diagnostic and Therapeutic Materials4+ 
179Adenocarcinoma4+ 
180Splenic Neoplasms4+ 
181Hyperpigmentation4+ 
182Osteonecrosis4+ 
183Neoplasm Metastasis4+ 
184Eye Abnormalities4+ 
185Leukemia, Plasma Cell4+ 
186Hemangioblastoma4+ 
187Tetralogy of Fallot4+ 
188Skull Base Neoplasms4+ 
189Bronchial Neoplasms4+ 
190Stomach Neoplasms4+ 
191Dandy-Walker Syndrome4+ 
192Nevus, Pigmented4+ 
193Precursor B-Cell Lymphoblastic Leukemia-Lymphoma4+ 
194Skin Abnormalities4+ 
195Carcinoma, Renal Cell3+ 
196Retinal Degeneration3+ 
197Anus Neoplasms3+ 
198Hand Deformities, Congenital3+ 
199Lymphoma, Non-Hodgkin3+ 
200Choroid Neoplasms3+ 
201Perivascular Epithelioid Cell Neoplasms3+ 
202Limb Deformities, Congenital3+ 
203Liver Neoplasms3+ 
204Lymphoma, T-Cell3+ 
205Lymphoproliferative Disorders3+ 
206Atrophy3+ 
207Ganglioglioma3+ 
208Abdominal Neoplasms3+ 
209Fibrosarcoma3+ 
210Severe Combined Immunodeficiency3+ 
211Eosinophilia3+ 
212Fragile X Syndrome3+ 
213Carcinoma in Situ3+ 
214Craniosynostoses3+ 
215Hypereosinophilic Syndrome3+ 
216Fetal Death3+ 
217Diffuse Cerebral Sclerosis of Schilder3+ 
218Neoplasms, Muscle Tissue3+ 
219Dwarfism3+ 
220Polycythemia Vera3+ 
221Retinal Neoplasms3+ 
222Lymphoma3+ 
223Macular Degeneration3+ 
224Carcinoma, Small Cell3+ 
225Carcinoma, Squamous Cell3+ 
226Hydrocephalus3+ 
227Hypogonadism3+ 
228Hamartoma3+ 
229Carcinoma, Ductal, Breast3+ 
230Seizures3+ 
231Parotid Neoplasms3+ 
232Mouth Neoplasms3+ 
233Esophageal Neoplasms3+ 
234Retroperitoneal Neoplasms3+ 
235Astrocytoma3+ 
236Retinal Detachment3+ 
237Leukemic Infiltration3+ 
238Immunologic Deficiency Syndromes3+ 
239Rectal Neoplasms3+ 
240Primary Myelofibrosis3+ 
241Epilepsy2+ 
242Postoperative Complications2+ 
243Adenoma2+ 
244Dilatation, Pathologic2+ 
245Mandibular Diseases2+ 
246Skin Diseases2+ 
247Wilms Tumor2+ 
248Carcinoma, Basal Cell2+ 
249Retinal Hemorrhage2+ 
250Head and Neck Neoplasms2+ 
251Liver Diseases2+ 
252Thrombocytopenia2+ 
253Lymphatic Metastasis2+ 
254Endometrial Neoplasms2+ 
255Mediastinal Neoplasms2+ 
256Urinary Bladder Neoplasms2+ 
257Anemia, Aplastic2+ 
258Pregnancy Complications2+ 
259Chronic Disease2+ 
260Graft vs Host Disease2+ 
261Carcinoma, Papillary2+ 
262Ovarian Neoplasms2+ 
263Brain Diseases1+ 
264Arteriovenous Fistula1+ 

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