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DiseasesRatingBibliogr.Expand
1Carcinoma in Situ100+ 
2Translocation, Genetic76+ 
3Chromosome Aberrations73+ 
4Chromosome Deletion51+ 
5Aneuploidy47+ 
6Chromosome Disorders44+ 
7Trisomy43+ 
8Abnormalities, Multiple37+ 
9Ring Chromosomes37+ 
10Chromosome Breakage32+ 
11Intellectual Disability32+ 
12Tumor Virus Infections29+ 
13Monosomy29+ 
14Chromosome Inversion28+ 
15Developmental Disabilities27+ 
16Sex Chromosome Aberrations24+ 
17Epstein-Barr Virus Infections23+ 
18Isochromosomes23+ 
19Leukemia, Myeloid, Acute21+ 
20Syndrome20+ 
21Herpesviridae Infections19+ 
22Papillomavirus Infections18+ 
23Leukemia, Myelogenous, Chronic, BCR-ABL Positive18+ 
24Oligospermia17+ 
25DiGeorge Syndrome17+ 
26Myelodysplastic Syndromes17+ 
27Craniofacial Abnormalities16+ 
28Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative16+ 
29Infertility, Male16+ 
30Prader-Willi Syndrome16+ 
31XYY Karyotype15+ 
32Down Syndrome14+ 
33Chromosome Duplication14+ 
34Facies14+ 
35Lymphoma, Mantle-Cell14+ 
36Infertility14+ 
37Growth Disorders14+ 
38Turner Syndrome14+ 
39Abnormal Karyotype13+ 
40Lymphoma, Follicular13+ 
41Precursor Cell Lymphoblastic Leukemia-Lymphoma13+ 
42Philadelphia Chromosome13+ 
43Lymphoma, B-Cell13+ 
44Lymphoproliferative Disorders13+ 
45Skin Neoplasms13+ 
46Lymphoma, T-Cell12+ 
47Leukemia, Lymphocytic, Chronic, B-Cell12+ 
48Congenital Abnormalities12+ 
49Carcinoma, Squamous Cell12+ 
50Polyploidy12+ 
51Leukemia, Myelomonocytic, Acute12+ 
52Williams Syndrome11+ 
53Abortion, Habitual11+ 
54Gonadal Dysgenesis, 46,XX11+ 
55Sex Chromosome Disorders11+ 
56Cell Transformation, Neoplastic11+ 
57Leukemia, Promyelocytic, Acute11+ 
58Lymphoma, Large B-Cell, Diffuse11+ 
59Angelman Syndrome11+ 
60Leukemia, Monocytic, Acute11+ 
61Neoplasms, Second Primary10+ 
62Burkitt Lymphoma10+ 
63Psychomotor Disorders10+ 
64Microcephaly10+ 
65Chromosomal Instability10+ 
66Primary Ovarian Insufficiency10+ 
67Condylomata Acuminata10+ 
68Muscle Hypotonia10+ 
69Fetal Diseases10+ 
70Warts9+ 
71Anemia, Refractory9+ 
72Disease Progression9+ 
73Hypertelorism9+ 
74Myopia9+ 
75Cri-du-Chat Syndrome9+ 
76Neoplasms, Multiple Primary9+ 
77Genetic Predisposition to Disease9+ 
78Autistic Disorder8+ 
79Sarcoma, Synovial8+ 
80Leukemia, Myeloid8+ 
81Nondisjunction, Genetic8+ 
82Leukemia, Erythroblastic, Acute8+ 
83Uterine Cervical Neoplasms8+ 
84Cytomegalovirus Infections8+ 
85Leukemia, B-Cell8+ 
86Klinefelter Syndrome8+ 
87Sarcoma, Ewing8+ 
88Cleft Palate8+ 
89Language Development Disorders8+ 
90Precancerous Conditions8+ 
91Uniparental Disomy8+ 
92Blast Crisis8+ 
93Gonadoblastoma8+ 
94Heart Defects, Congenital8+ 
95Bowen's Disease7+ 
96Lymphoma, Large-Cell, Immunoblastic7+ 
97Abortion, Spontaneous7+ 
98Mental Retardation, X-Linked7+ 
99Holoprosencephaly7+ 
100Leukemia, Myelomonocytic, Chronic7+ 
101Brain Neoplasms7+ 
102Diseases in Twins7+ 
103Carcinoma7+ 
104Lymphoma, AIDS-Related7+ 
105Micronuclei, Chromosome-Defective7+ 
106Infectious Mononucleosis7+ 
107Gonadal Dysgenesis7+ 
108Asthenozoospermia6+ 
109Gonadal Dysgenesis, Mixed6+ 
110Fetal Growth Retardation6+ 
111Chromosome Fragility6+ 
112Neuroectodermal Tumors, Primitive6+ 
113Breast Neoplasms6+ 
114Lymphoma6+ 
115Neoplasms, Adipose Tissue6+ 
116Cell Transformation, Viral6+ 
117Jacobsen Distal 11q Deletion Syndrome6+ 
118Papilloma6+ 
119Adenocarcinoma6+ 
120Genetic Diseases, Inborn6+ 
121Tetraploidy6+ 
122Disorders of Sex Development6+ 
123Lymphoma, Non-Hodgkin6+ 
12446, XX Testicular Disorders of Sex Development6+ 
125Azoospermia6+ 
126Tetrasomy6+ 
127Stomach Neoplasms6+ 
128Neoplasm Recurrence, Local6+ 
129Hematologic Neoplasms6+ 
130Leukemia, Biphenotypic, Acute6+ 
131Leukemia, Myeloid, Chronic-Phase6+ 
132Urogenital Neoplasms6+ 
133Acute Disease6+ 
134Acquired Immunodeficiency Syndrome6+ 
135Gonadal Dysgenesis, 46,XY6+ 
136Anus Neoplasms6+ 
137Leukemia6+ 
138Melanoma6+ 
139Liver Neoplasms6+ 
140Sarcoma, Clear Cell6+ 
141Soft Tissue Neoplasms6+ 
142Cleft Lip5+ 
143Sarcoma5+ 
144Lung Neoplasms5+ 
145Hyperplasia5+ 
146Lymphoma, T-Cell, Peripheral5+ 
147Coloboma5+ 
148Rhabdomyosarcoma, Alveolar5+ 
149Recurrence5+ 
150Hodgkin Disease5+ 
151Neuroblastoma5+ 
152Oligodendroglioma5+ 
153Cervical Intraepithelial Neoplasia5+ 
154Precursor T-Cell Lymphoblastic Leukemia-Lymphoma5+ 
155Lymphoma, B-Cell, Marginal Zone5+ 
156Bone Neoplasms5+ 
157Learning Disorders5+ 
158Oligohydramnios5+ 
159Vulvar Neoplasms5+ 
160WAGR Syndrome5+ 
161Neoplasm Invasiveness5+ 
162Bone Marrow Neoplasms5+ 
163Lymphoma, T-Cell, Cutaneous5+ 
164Myeloproliferative Disorders5+ 
165Anemia, Refractory, with Excess of Blasts5+ 
166Eye Abnormalities5+ 
167Herpes Simplex5+ 
168Ichthyosis, X-Linked5+ 
169Multiple Myeloma5+ 
170Nasopharyngeal Neoplasms5+ 
171Leukoencephalopathy, Progressive Multifocal5+ 
172Disease Models, Animal5+ 
173HIV Seropositivity4+ 
174Splenic Neoplasms4+ 
175Leukemia-Lymphoma, Adult T-Cell4+ 
176Neoplasm Metastasis4+ 
177Noonan Syndrome4+ 
178Agenesis of Corpus Callosum4+ 
179Leukoplakia, Oral4+ 
180Postoperative Complications4+ 
181Skin Diseases, Viral4+ 
182Neoplasm, Residual4+ 
183Skin Abnormalities4+ 
184Obesity4+ 
185Musculoskeletal Abnormalities4+ 
186Limb Deformities, Congenital4+ 
187Astigmatism4+ 
188Uterine Neoplasms4+ 
189Pyelectasis4+ 
190Dwarfism4+ 
191Lymphoma, Extranodal NK-T-Cell4+ 
192Foot Deformities, Congenital4+ 
193Abdominal Neoplasms4+ 
194Histiocytosis, Non-Langerhans-Cell4+ 
195Chronic Disease4+ 
196Precursor B-Cell Lymphoblastic Leukemia-Lymphoma4+ 
197Nevus, Epithelioid and Spindle Cell4+ 
198Clubfoot4+ 
199Hand Deformities, Congenital4+ 
200Carcinoma, Intraductal, Noninfiltrating4+ 
201Carcinoma, Ductal, Breast4+ 
202Fetal Death4+ 
203Leukemia, Prolymphocytic4+ 
204Hearing Loss4+ 
205Dermatofibrosarcoma4+ 
206Leukemia, Megakaryoblastic, Acute4+ 
20722q11 Deletion Syndrome4+ 
208Viremia4+ 
209Metaplasia4+ 
210Urinary Bladder Neoplasms4+ 
211Lymphatic Metastasis4+ 
212Neuroectodermal Tumors, Primitive, Peripheral4+ 
213Sarcoma, Myeloid4+ 
214Adenoma, Oxyphilic4+ 
215Medulloblastoma4+ 
216Immunoblastic Lymphadenopathy4+ 
217Dandy-Walker Syndrome4+ 
218Smooth Muscle Tumor4+ 
219Liposarcoma4+ 
220Fragile X Syndrome3+ 
221Hepatitis, Viral, Human3+ 
222Fanconi Anemia3+ 
223Gliosarcoma3+ 
224Lymphoma, Large-Cell, Anaplastic3+ 
225Vaginal Neoplasms3+ 
226HIV Infections3+ 
227Epilepsy3+ 
228Failure to Thrive3+ 
229Granuloma, Plasma Cell3+ 
230Amenorrhea3+ 
231Wolf-Hirschhorn Syndrome3+ 
232Mouth Neoplasms3+ 
233Adenoma3+ 
234Graft vs Host Disease3+ 
235Necrosis3+ 
236Corneal Diseases3+ 
237Tetralogy of Fallot3+ 
238Speech Disorders3+ 
239Syndactyly3+ 
240Fibrosarcoma3+ 
241Polyhydramnios3+ 
242Tongue Neoplasms3+ 
243Testicular Neoplasms3+ 
244Kidney Neoplasms3+ 
245Carcinoma, Renal Cell3+ 
246Histiocytic Sarcoma3+ 
247Immunologic Deficiency Syndromes3+ 
248Nose Neoplasms3+ 
249Leiomyosarcoma3+ 
250Parotid Neoplasms3+ 
251Ovarian Neoplasms3+ 
252Hypogonadism3+ 
253Pregnancy Complications, Infectious3+ 
254Epidermodysplasia Verruciformis3+ 
255Neoplasms, Muscle Tissue3+ 
256Horse Diseases3+ 
257Carcinoma, Papillary3+ 
258Velopharyngeal Insufficiency3+ 
259Pancytopenia3+ 
260Neoplasms, Complex and Mixed3+ 
261Smith-Magenis Syndrome3+ 
262Composite Lymphoma3+ 
263Central Nervous System Neoplasms3+ 
264Carcinoma, Verrucous3+ 
265Rhabdoid Tumor3+ 
266Hypereosinophilic Syndrome3+ 
267Carcinoma, Lobular3+ 
268Severe Combined Immunodeficiency3+ 
269Hydroa Vacciniforme3+ 
270Lipoma3+ 
271Pigmentation Disorders3+ 
272Encephalitis, Viral3+ 
273Pneumonia3+ 
274Leukemia, Plasma Cell3+ 
275Language Disorders3+ 
276Intestinal Neoplasms3+ 
277Anus, Imperforate3+ 
278Tonsillar Neoplasms3+ 
279Rhabdomyosarcoma, Embryonal3+ 
280Empyema, Tuberculous3+ 
281Seizures3+ 
282Neurofibromatosis 13+ 
283Ulcer3+ 
284Wilms Tumor3+ 
285Retroperitoneal Neoplasms3+ 
286Esophageal Neoplasms3+ 
287Charcot-Marie-Tooth Disease3+ 
288Sarcoma, Kaposi3+ 
289AIDS-Related Opportunistic Infections2+ 
290Ganglioglioma2+ 
291Craniosynostoses2+ 
292Pseudolymphoma2+ 
293Leukoplakia, Hairy2+ 
294Endometrial Neoplasms2+ 
295Cerebellar Neoplasms2+ 
296Skin Diseases2+ 
297Mediastinal Neoplasms2+ 
298Glioblastoma2+ 
299Laryngeal Neoplasms2+ 
300Osteoarthritis2+ 
301Keratitis, Herpetic2+ 
302Beckwith-Wiedemann Syndrome2+ 
303Carcinoma, Hepatocellular2+ 
304Pneumonia, Viral2+ 
305Dysgerminoma2+ 
306Eosinophilia2+ 
307Meningeal Neoplasms2+ 
308Lymphadenitis2+ 
309Histiocytoma, Malignant Fibrous2+ 
310Genetic Diseases, X-Linked2+ 
311Leukemic Infiltration2+ 
312Eye Neoplasms2+ 
313Body Dysmorphic Disorders2+ 
314Retinoblastoma2+ 
315Inflammation2+ 
316Blepharophimosis2+ 
317Rett Syndrome2+ 
318Hydatidiform Mole2+ 
319Chlamydia Infections2+ 
320Parvoviridae Infections2+ 
321Dilatation, Pathologic2+ 
322Plasmacytoma2+ 
323Salivary Gland Neoplasms2+ 
324Encephalitis2+ 
325Pituitary Neoplasms2+ 
326Lymphomatoid Granulomatosis2+ 
327Carcinoma, Small Cell2+ 
328Thalassemia2+ 
329Penile Neoplasms2+ 
330Sclerosis2+ 
331Teratoma2+ 
332Leukemia, Radiation-Induced2+ 
333Perivascular Epithelioid Cell Neoplasms2+ 
334Polycythemia Vera2+ 
335Cholangiocarcinoma2+ 
336Genital Neoplasms, Male2+ 
337Thyroid Neoplasms2+ 
338Adenoviridae Infections2+ 
339Opportunistic Infections2+ 
340Pleural Neoplasms2+ 
341Pelizaeus-Merzbacher Disease2+ 
342Wiskott-Aldrich Syndrome2+ 
343Meningioma2+ 
344Gastrointestinal Neoplasms2+ 
345Sarcoma, Small Cell2+ 
346Rectal Neoplasms2+ 
347Anemia, Aplastic2+ 
348Liver Diseases2+ 
349Liposarcoma, Myxoid2+ 
350Retinal Neoplasms2+ 
351Germinoma2+ 
352Classical Lissencephalies and Subcortical Band Heterotopias2+ 
353Deafness2+ 
354Periventricular Nodular Heterotopia2+ 
355Cushing Syndrome2+ 
356Muscle Neoplasms2+ 
357Neoplasms, Experimental2+ 
358Lymphoma, Primary Effusion2+ 
359Hypoparathyroidism2+ 
360Arachnodactyly2+ 
361Leukemia, Lymphoid2+ 
362Eye Infections, Bacterial2+ 
363Diffuse Cerebral Sclerosis of Schilder2+ 
364Microphthalmos2+ 
365Leiomyoma2+ 
366Arthritis, Rheumatoid2+ 
367Conjunctival Neoplasms2+ 
368Aneurysm, Infected2+ 
369Rhabdomyosarcoma2+ 
370Histiocytoma, Benign Fibrous2+ 
371Corneal Edema2+ 
372Head and Neck Neoplasms2+ 
373Placenta Diseases2+ 
374Blepharoptosis2+ 
375Myocarditis1+ 
376beta-Thalassemia1+ 
377Carcinoma, Transitional Cell1+ 
378Prostatic Neoplasms1+ 
379Genital Neoplasms, Female1+ 
380Adenovirus Infections, Human1+ 
381Astrocytoma1+ 
382Lung Diseases1+ 
383Pancreatic Neoplasms1+ 
384Child Development Disorders, Pervasive1+ 
385Mycobacterium Infections, Nontuberculous1+ 
386Hamartoma1+ 
387Malformations of Cortical Development1+ 
388Surgical Wound Dehiscence1+ 
389Adrenal Gland Neoplasms1+ 
390Muscular Dystrophy, Duchenne1+ 
391Vascular Neoplasms1+ 
392Hypopigmentation1+ 
393Aniridia1+ 
394Lymphocytosis1+ 
395Motor Skills Disorders1+ 
396Adenocarcinoma, Mucinous1+ 
397Pregnancy Complications1+ 
398Bronchial Neoplasms1+ 
399Eye Injuries1+ 
400Empyema, Pleural1+ 
401Heart Septal Defects, Ventricular1+ 
402Nervous System Malformations1+ 
403Polydactyly1+ 
404Tibial Neuropathy1+ 
405Paget Disease, Extramammary1+ 
406Liver Failure1+ 
407Mandibular Neoplasms1+ 
408Keratosis1+ 
409Iatrogenic Disease1+ 
410Carcinoma, Merkel Cell1+ 
411Hyperventilation1+ 
412Nail Diseases1+ 
413Phyllodes Tumor1+ 
414Mitochondrial Diseases1+ 
415Child Behavior Disorders1+ 
416Kearns-Sayre Syndrome1+ 
417Li-Fraumeni Syndrome1+ 
418Corneal Ulcer1+ 
419AIDS Dementia Complex1+ 
420Macrocephaly1+ 
421Leg Ulcer1+ 
422Puberty, Delayed1+ 
423Micrognathism1+ 
424Pulmonary Blastoma1+ 
425Carcinoma, Neuroendocrine1+ 
426Elliptocytosis, Hereditary1+ 
427Neoplasms1+ 
428Hypospadias1+ 
429Anus Diseases1+ 
430Carcinoma, Large Cell1+ 
431Hutchinson's Melanotic Freckle1+ 
432Mouth Diseases1+ 
433Skin Diseases, Bacterial1+ 
434Hepatoblastoma1+ 
435Placenta, Retained1+ 
436Lip Neoplasms1+ 
437Dry Eye Syndromes1+ 
438Facial Neoplasms1+ 
439Leukemia, T-Cell1+ 
440Ocular Hypertension1+ 
441Epiphyses, Slipped1+ 
442Colonic Neoplasms1+ 
443Hernia, Diaphragmatic1+ 
444Hemophilia A1+ 
445Bone Marrow Diseases1+ 
446Infertility, Female1+ 
447Acrocephalosyndactylia1+ 
448Neoplasms, Germ Cell and Embryonal1+ 
449Coinfection1+ 
450Carcinosarcoma1+ 
451Insect Bites and Stings1+ 
452Hernia, Umbilical1+ 
453Uterine Cervical Dysplasia1+ 
454Wound Infection1+ 
455Hydrocephalus1+ 
456Adenoma, Pleomorphic1+ 
457Rare Diseases1+ 
45846, XY Disorders of Sex Development1+ 
459Papilloma, Inverted1+ 
460Peritoneal Neoplasms1+ 
461Osteosarcoma1+ 
462AIDS-Related Complex1+ 
463Spasms, Infantile1+ 
464Muscular Dystrophies1+ 
465Rubinstein-Taybi Syndrome1+ 
466Paraparesis, Tropical Spastic1+ 
467Legionellosis1+ 
468Deltaretrovirus Infections1+ 
469Neural Tube Defects1+ 
470Corneal Opacity1+ 
471Prolactinoma1+ 
472Uveal Neoplasms1+ 
473Pleural Effusion, Malignant1+ 
474Prosthesis-Related Infections1+ 
475Aortic Aneurysm, Abdominal1+ 
476Hand Dermatoses1+ 
477Leukemia, Prolymphocytic, T-Cell1+ 
478Adenomatous Polyposis Coli1+ 
479Arthritis, Reactive1+ 
480Primary Myelofibrosis1+ 
481Hepatitis B1+ 
482Anisometropia1+ 
483Neurofibromatosis 21+ 
484Hepatitis A1+ 
485Persistent Fetal Circulation Syndrome1+ 
486Glioma1+ 
487Kidney Diseases1+ 
488Chondrosarcoma1+ 
489von Hippel-Lindau Disease1+ 
490Breast Neoplasms, Male1+ 
491Fibrous Dysplasia, Polyostotic1+ 
492Mycosis Fungoides1+ 
493Fallopian Tube Neoplasms1+ 
494Erythema Infectiosum1+ 
495Nerve Sheath Neoplasms1+ 
496Neuromuscular Diseases1+ 
497Barrett Esophagus1+ 
498Synostosis1+ 
499Hypothyroidism1+ 
500Fibroadenoma1+ 
501Apraxias1+ 
502Eye Infections, Fungal1+ 
503Cardiomyopathy, Dilated1+ 
504Facial Dermatoses1+ 
505Nervous System Diseases1+ 

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