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DiseasesRatingBibliogr.Expand
1Chromosome Aberrations100+ 
2Translocation, Genetic97+ 
3Chromosome Deletion75+ 
4Aneuploidy63+ 
5Chromosome Disorders58+ 
6Trisomy56+ 
7Abnormalities, Multiple52+ 
8Ring Chromosomes48+ 
9Intellectual Disability46+ 
10Chromosome Breakage44+ 
11Developmental Disabilities42+ 
12Tumor Virus Infections40+ 
13Monosomy37+ 
14Chromosome Inversion37+ 
15Sex Chromosome Aberrations33+ 
16Syndrome29+ 
17Epstein-Barr Virus Infections29+ 
18Isochromosomes28+ 
19Leukemia, Myeloid, Acute27+ 
20Chromosome Duplication25+ 
21Herpesviridae Infections25+ 
22Craniofacial Abnormalities23+ 
23Papillomavirus Infections23+ 
24DiGeorge Syndrome23+ 
25Abnormal Karyotype23+ 
26Facies23+ 
27Prader-Willi Syndrome22+ 
28Oligospermia22+ 
29Infertility, Male22+ 
30Leukemia, Myelogenous, Chronic, BCR-ABL Positive21+ 
31Myelodysplastic Syndromes21+ 
32Infertility20+ 
33XYY Karyotype20+ 
34Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative19+ 
35Down Syndrome19+ 
36Turner Syndrome18+ 
37Congenital Abnormalities18+ 
38Growth Disorders18+ 
39Lymphoma, Mantle-Cell17+ 
40Sex Chromosome Disorders17+ 
41Gonadal Dysgenesis, 46,XX17+ 
42Lymphoproliferative Disorders17+ 
43Precursor Cell Lymphoblastic Leukemia-Lymphoma17+ 
44Lymphoma, B-Cell17+ 
45Leukemia, Lymphocytic, Chronic, B-Cell16+ 
46Lymphoma, T-Cell16+ 
47Philadelphia Chromosome16+ 
48Microcephaly16+ 
49Lymphoma, Follicular15+ 
50Skin Neoplasms15+ 
51Polyploidy15+ 
52Abortion, Habitual15+ 
53Primary Ovarian Insufficiency15+ 
54Williams Syndrome15+ 
55Psychomotor Disorders15+ 
56Muscle Hypotonia15+ 
57Warts14+ 
58Leukemia, Myelomonocytic, Acute14+ 
59Leukemia, Promyelocytic, Acute14+ 
60Cell Transformation, Neoplastic14+ 
61Lymphoma, Large B-Cell, Diffuse14+ 
62Angelman Syndrome14+ 
63Genetic Predisposition to Disease14+ 
64Nondisjunction, Genetic13+ 
65Autistic Disorder13+ 
66Carcinoma, Squamous Cell13+ 
67Fetal Diseases13+ 
68Chromosomal Instability13+ 
69Condylomata Acuminata13+ 
70Neoplasms, Second Primary13+ 
71Leukemia, Monocytic, Acute13+ 
72Burkitt Lymphoma13+ 
73Language Development Disorders12+ 
74Mental Retardation, X-Linked12+ 
75Klinefelter Syndrome12+ 
76Cleft Palate12+ 
77Disease Progression12+ 
78Anemia, Refractory11+ 
79Cri-du-Chat Syndrome11+ 
80Hypertelorism11+ 
81Uniparental Disomy11+ 
82Cytomegalovirus Infections11+ 
83Cell Transformation, Viral11+ 
84Abortion, Spontaneous10+ 
85Heart Defects, Congenital10+ 
86Leukemia, Myeloid10+ 
87Leukemia, Erythroblastic, Acute10+ 
88Sarcoma, Synovial10+ 
89Leukemia, B-Cell10+ 
90Neoplasms, Multiple Primary10+ 
91Lymphoma10+ 
92Jacobsen Distal 11q Deletion Syndrome10+ 
93Diseases in Twins10+ 
94Brain Neoplasms10+ 
95Sarcoma, Ewing9+ 
96Blast Crisis9+ 
97Tetraploidy9+ 
98Gonadoblastoma9+ 
99Holoprosencephaly9+ 
100Infectious Mononucleosis9+ 
101Lymphoma, Large-Cell, Immunoblastic9+ 
102Micronuclei, Chromosome-Defective9+ 
103Lymphoma, Non-Hodgkin9+ 
104Neoplasms, Adipose Tissue9+ 
105Gonadal Dysgenesis9+ 
106Papilloma9+ 
107Fetal Growth Retardation9+ 
108Acquired Immunodeficiency Syndrome8+ 
109Leukemia, Myelomonocytic, Chronic8+ 
110Cleft Lip8+ 
111Carcinoma8+ 
112Disorders of Sex Development8+ 
113Smith-Magenis Syndrome8+ 
114Chromosome Fragility8+ 
115Gonadal Dysgenesis, Mixed8+ 
116Lymphoma, AIDS-Related8+ 
117Urogenital Neoplasms8+ 
118Precancerous Conditions8+ 
119Neuroectodermal Tumors, Primitive8+ 
120Lung Neoplasms8+ 
121Asthenozoospermia8+ 
122Tetrasomy8+ 
123Azoospermia8+ 
124Liver Neoplasms8+ 
125Stomach Neoplasms7+ 
126Gonadal Dysgenesis, 46,XY7+ 
127Skin Abnormalities7+ 
128Limb Deformities, Congenital7+ 
129Agenesis of Corpus Callosum7+ 
130Epidermodysplasia Verruciformis7+ 
131Sarcoma7+ 
132Soft Tissue Neoplasms7+ 
133Leukemia7+ 
134Bowen's Disease7+ 
135Acute Disease7+ 
13646, XX Testicular Disorders of Sex Development7+ 
137Nevus, Epithelioid and Spindle Cell7+ 
138Neuroblastoma7+ 
139Leukemia, Biphenotypic, Acute7+ 
140Eye Abnormalities7+ 
141Hodgkin Disease7+ 
142Genetic Diseases, Inborn7+ 
143Learning Disorders7+ 
144Coloboma7+ 
145Leukemia, Myeloid, Chronic-Phase7+ 
146Sarcoma, Clear Cell7+ 
147Neoplasm Recurrence, Local7+ 
148Rhabdomyosarcoma, Alveolar7+ 
149Bone Neoplasms7+ 
150Genetic Diseases, X-Linked7+ 
151Uterine Cervical Neoplasms7+ 
152Lymphoma, B-Cell, Marginal Zone7+ 
153Hematologic Neoplasms7+ 
154Recurrence7+ 
155Body Dysmorphic Disorders7+ 
156Rett Syndrome7+ 
157Leukemia-Lymphoma, Adult T-Cell7+ 
158Lymphoma, T-Cell, Peripheral7+ 
159Oligodendroglioma6+ 
160Ichthyosis, X-Linked6+ 
161WAGR Syndrome6+ 
162Oligohydramnios6+ 
163Adenocarcinoma6+ 
164Anus Neoplasms6+ 
165Lymphoma, T-Cell, Cutaneous6+ 
166Hyperplasia6+ 
167HIV Seropositivity6+ 
168Thalassemia6+ 
169Leukoplakia, Oral6+ 
170Obesity6+ 
171Disease Models, Animal6+ 
172Skin Diseases, Viral6+ 
173Precursor T-Cell Lymphoblastic Leukemia-Lymphoma6+ 
174Leukoencephalopathy, Progressive Multifocal6+ 
175Myeloproliferative Disorders6+ 
176Anemia, Refractory, with Excess of Blasts6+ 
177Pyelectasis6+ 
178Hand Deformities, Congenital6+ 
179Bone Marrow Neoplasms6+ 
180Herpes Simplex6+ 
181Noonan Syndrome6+ 
182Hearing Loss6+ 
183Parvoviridae Infections6+ 
184Histiocytosis, Non-Langerhans-Cell6+ 
185Nasopharyngeal Neoplasms6+ 
186Pelizaeus-Merzbacher Disease6+ 
187Clubfoot6+ 
188Splenic Neoplasms6+ 
189Multiple Myeloma6+ 
190Breast Neoplasms6+ 
191Chronic Disease6+ 
192Abdominal Neoplasms6+ 
193Dwarfism6+ 
194Epilepsy6+ 
195Uterine Neoplasms6+ 
196Horse Diseases6+ 
197Carcinoma in Situ6+ 
198Classical Lissencephalies and Subcortical Band Heterotopias5+ 
199Periventricular Nodular Heterotopia5+ 
200Viremia5+ 
201Fragile X Syndrome5+ 
202Neoplasm Metastasis5+ 
203Neoplasm, Residual5+ 
204Fetal Death5+ 
20522q11 Deletion Syndrome5+ 
206Medulloblastoma5+ 
207Precursor B-Cell Lymphoblastic Leukemia-Lymphoma5+ 
208Melanoma5+ 
209Neoplasms, Experimental5+ 
210Foot Deformities, Congenital5+ 
211Dandy-Walker Syndrome5+ 
212Dermatofibrosarcoma5+ 
213Adenoma, Oxyphilic5+ 
214Vulvar Neoplasms5+ 
215Arachnodactyly5+ 
216Musculoskeletal Abnormalities5+ 
217Fibrosarcoma5+ 
218Liposarcoma5+ 
219Immunologic Deficiency Syndromes5+ 
220Speech Disorders5+ 
221Neuroectodermal Tumors, Primitive, Peripheral5+ 
222Wolf-Hirschhorn Syndrome5+ 
223Lymphatic Metastasis5+ 
224Fanconi Anemia5+ 
225Microphthalmos5+ 
226Lymphoma, Extranodal NK-T-Cell5+ 
227Leiomyosarcoma5+ 
228Leukemia, Megakaryoblastic, Acute5+ 
229Failure to Thrive5+ 
230Leukemia, Prolymphocytic5+ 
231Metaplasia5+ 
232beta-Thalassemia5+ 
233Velopharyngeal Insufficiency5+ 
234Sarcoma, Myeloid5+ 
235Keratitis, Herpetic5+ 
236Amenorrhea4+ 
237Immunoblastic Lymphadenopathy4+ 
238Gliosarcoma4+ 
239Child Development Disorders, Pervasive4+ 
240Malformations of Cortical Development4+ 
241Nose Neoplasms4+ 
242Lymphoma, Large-Cell, Anaplastic4+ 
243Leukemia, Plasma Cell4+ 
244Pregnancy Complications, Infectious4+ 
245Cervical Intraepithelial Neoplasia4+ 
246Carcinoma, Renal Cell4+ 
247HIV Infections4+ 
248Muscular Dystrophy, Duchenne4+ 
249Polyhydramnios4+ 
250Smooth Muscle Tumor4+ 
251Syndactyly4+ 
252Aniridia4+ 
253Hypogonadism4+ 
254AIDS-Related Opportunistic Infections4+ 
255Granuloma, Plasma Cell4+ 
256Glioblastoma4+ 
257Motor Skills Disorders4+ 
258Hepatitis, Viral, Human4+ 
259Tonsillar Neoplasms4+ 
260Tetralogy of Fallot4+ 
261Adenoma4+ 
262Seizures4+ 
263Language Disorders4+ 
264Pneumonia4+ 
265Intestinal Neoplasms4+ 
266Ganglioglioma4+ 
267Ovarian Neoplasms4+ 
268Tongue Neoplasms4+ 
269Rhabdoid Tumor4+ 
270Parotid Neoplasms4+ 
271Graft vs Host Disease4+ 
272Carcinoma, Verrucous4+ 
273Empyema, Pleural4+ 
274Nervous System Malformations4+ 
275Cerebellar Neoplasms4+ 
276Anus, Imperforate4+ 
277Lipoma4+ 
278Central Nervous System Neoplasms4+ 
279Hydroa Vacciniforme4+ 
280Carcinoma, Hepatocellular4+ 
281Polydactyly4+ 
282Neurofibromatosis 14+ 
283Tibial Neuropathy4+ 
284Neoplasms, Muscle Tissue4+ 
285Necrosis4+ 
286Severe Combined Immunodeficiency4+ 
287Neoplasm Invasiveness4+ 
288Pancytopenia4+ 
289Craniosynostoses4+ 
290Beckwith-Wiedemann Syndrome4+ 
291Hyperventilation4+ 
292Vaginal Neoplasms4+ 
293Urinary Bladder Neoplasms4+ 
294Mouth Neoplasms4+ 
295Wilms Tumor4+ 
296Mitochondrial Diseases4+ 
297Child Behavior Disorders4+ 
298Histiocytic Sarcoma4+ 
299Kearns-Sayre Syndrome4+ 
300Li-Fraumeni Syndrome4+ 
301Macrocephaly3+ 
302Puberty, Delayed3+ 
303Retroperitoneal Neoplasms3+ 
304Meningeal Neoplasms3+ 
305Micrognathism3+ 
306Pulmonary Blastoma3+ 
307Hypereosinophilic Syndrome3+ 
308Carcinoma, Papillary3+ 
309Ulcer3+ 
310Elliptocytosis, Hereditary3+ 
311Blepharophimosis3+ 
312Skin Diseases3+ 
313Lymphocytosis3+ 
314Encephalitis, Viral3+ 
315Lymphadenitis3+ 
316Hypopigmentation3+ 
317Sarcoma, Kaposi3+ 
318Charcot-Marie-Tooth Disease3+ 
319Placenta Diseases3+ 
320Carcinoma, Large Cell3+ 
321Neoplasms, Complex and Mixed3+ 
322Skin Diseases, Bacterial3+ 
323Pneumonia, Viral3+ 
324Hepatoblastoma3+ 
325Histiocytoma, Malignant Fibrous3+ 
326Retinoblastoma3+ 
327Osteoarthritis3+ 
328Genital Neoplasms, Female3+ 
329Composite Lymphoma3+ 
330Chlamydia Infections3+ 
331Mediastinal Neoplasms3+ 
332Deafness3+ 
333Rhabdomyosarcoma, Embryonal3+ 
334Pigmentation Disorders3+ 
335Pseudolymphoma3+ 
336Hernia, Diaphragmatic3+ 
337Teratoma3+ 
338Bone Marrow Diseases3+ 
339Empyema, Tuberculous3+ 
340Leukemia, Lymphoid3+ 
341Acrocephalosyndactylia3+ 
342Laryngeal Neoplasms3+ 
343Coinfection3+ 
344Liver Failure3+ 
345Pleural Neoplasms3+ 
346Postoperative Complications3+ 
347Wound Infection3+ 
348Lymphomatoid Granulomatosis3+ 
349Leukoplakia, Hairy3+ 
35046, XY Disorders of Sex Development3+ 
351Pituitary Neoplasms3+ 
352Eosinophilia3+ 
353Encephalitis3+ 
354Papilloma, Inverted3+ 
355Carcinoma, Ductal, Breast3+ 
356Meningioma3+ 
357Leukemic Infiltration3+ 
358AIDS-Related Complex3+ 
359Plasmacytoma3+ 
360Spasms, Infantile3+ 
361Hydatidiform Mole3+ 
362Cushing Syndrome3+ 
363Thyroid Neoplasms3+ 
364Anemia, Aplastic3+ 
365Salivary Gland Neoplasms3+ 
366Adenoviridae Infections3+ 
367Rubinstein-Taybi Syndrome3+ 
368Testicular Neoplasms3+ 
369Opportunistic Infections3+ 
370Leg Ulcer3+ 
371Legionellosis3+ 
372Deltaretrovirus Infections3+ 
373Retinal Neoplasms3+ 
374Adenovirus Infections, Human3+ 
375Conjunctival Neoplasms3+ 
376Gastrointestinal Neoplasms3+ 
377Carcinoma, Small Cell3+ 
378Carcinoma, Neuroendocrine3+ 
379Endometrial Neoplasms3+ 
380Hemophilia A3+ 
381Uveal Neoplasms3+ 
382Polycythemia Vera3+ 
383Esophageal Neoplasms3+ 
384Muscle Neoplasms3+ 
385Pleural Effusion, Malignant3+ 
386Inflammation3+ 
387Carcinoma, Merkel Cell3+ 
388Hand Dermatoses3+ 
389Infertility, Female3+ 
390Liver Diseases3+ 
391Leukemia, T-Cell3+ 
392Carcinosarcoma3+ 
393Leukemia, Radiation-Induced3+ 
394AIDS Dementia Complex3+ 
395Leukemia, Prolymphocytic, T-Cell3+ 
396Adenomatous Polyposis Coli3+ 
397Perivascular Epithelioid Cell Neoplasms3+ 
398Hepatitis B2+ 
399Neurofibromatosis 22+ 
400Hepatitis A2+ 
401Genital Neoplasms, Male2+ 
402Persistent Fetal Circulation Syndrome2+ 
403Eye Neoplasms2+ 
404Osteosarcoma2+ 
405Hydrocephalus2+ 
406Rectal Neoplasms2+ 
407Sclerosis2+ 
408Dysgerminoma2+ 
409Insect Bites and Stings2+ 
410Hernia, Umbilical2+ 
411Rhabdomyosarcoma2+ 
412Wiskott-Aldrich Syndrome2+ 
413Lip Neoplasms2+ 
414Anus Diseases2+ 
415Muscular Dystrophies2+ 
416Sarcoma, Small Cell2+ 
417Adenoma, Pleomorphic2+ 
418von Hippel-Lindau Disease2+ 
419Neoplasms2+ 
420Fibrous Dysplasia, Polyostotic2+ 
421Mycobacterium Infections, Nontuberculous2+ 
422Liposarcoma, Myxoid2+ 
423Rare Diseases2+ 
424Germinoma2+ 
425Erythema Infectiosum2+ 
426Neuromuscular Diseases2+ 
427Hypoparathyroidism2+ 
428Leiomyoma2+ 
429Barrett Esophagus2+ 
430Diffuse Cerebral Sclerosis of Schilder2+ 
431Synostosis2+ 
432Apraxias2+ 
433Lymphoma, Primary Effusion2+ 
434Cardiomyopathy, Dilated2+ 
435Lung Diseases2+ 
436Paraparesis, Tropical Spastic2+ 
437Neural Tube Defects2+ 
438Nervous System Diseases2+ 
439Dysgammaglobulinemia2+ 
440Myocarditis2+ 
441Keratosis2+ 
442Neoplasms, Neuroepithelial2+ 
443Adrenal Gland Neoplasms2+ 
444Peritoneal Neoplasms2+ 
445Primary Myelofibrosis2+ 
446Mouth Diseases2+ 
447Arthritis, Rheumatoid2+ 
448Neoplasms, Germ Cell and Embryonal2+ 
449Phyllodes Tumor2+ 
450Epilepsies, Myoclonic2+ 
451Astrocytoma2+ 
452Prolactinoma2+ 
453Carcinoma, Lobular2+ 
454Glioma2+ 
455Bronchial Neoplasms2+ 
456Histiocytoma, Benign Fibrous2+ 
457Head and Neck Neoplasms2+ 
458Blepharoptosis2+ 
459Heart Septal Defects, Ventricular2+ 
460Ependymoma2+ 
461Cholangiocarcinoma2+ 
462Penile Neoplasms2+ 
463Nerve Sheath Neoplasms2+ 
464Colonic Neoplasms2+ 
465Osteogenesis Imperfecta2+ 
466Prostatic Neoplasms2+ 
467Arthritis, Reactive2+ 
468Mycosis Fungoides2+ 
469Bacteremia2+ 
470Osteochondrodysplasias2+ 
471Chickenpox2+ 
472Vascular Neoplasms2+ 
473Edema2+ 
474Hypothyroidism2+ 
475Gastrointestinal Stromal Tumors2+ 
476Chondrosarcoma2+ 
477Multiple Endocrine Neoplasia Type 12+ 
478Hamartoma2+ 
479Pregnancy Complications2+ 
480Helicobacter Infections2+ 
481Facial Dermatoses2+ 
482Pancreatic Neoplasms2+ 
483Adenocarcinoma, Mucinous2+ 
484Skin Ulcer2+ 
485Thymus Neoplasms2+ 
486Kidney Diseases2+ 
487Carcinoma, Transitional Cell2+ 
488Herpes Zoster2+ 
489Lymphatic Diseases1+ 
490Liver Cirrhosis1+ 
491Facial Neoplasms1+ 
492Hydrops Fetalis1+ 
493Carcinoma, Non-Small-Cell Lung1+ 
494Heart Septal Defects, Atrial1+ 
495Mandibular Neoplasms1+ 
496Carcinoid Tumor1+ 
497Granuloma1+ 
498Spinal Cord Neoplasms1+ 
499Vasculitis1+ 
500Hypertension, Pulmonary1+ 
501Thrombocytopenia1+ 
502Kidney Failure, Chronic1+ 
503Heart Neoplasms1+ 
504Lupus Erythematosus, Systemic1+ 

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