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Symptoms:

    


DiseasesRatingBibliogr.Expand
1Chromosome Aberrations100+ 
2Viremia96+ 
3Chromosome Deletion94+ 
4Gonorrhea81+ 
5HIV Seropositivity77+ 
6HIV Infections71+ 
7Translocation, Genetic65+ 
8Intellectual Disability59+ 
9Abnormalities, Multiple58+ 
10Developmental Disabilities57+ 
11Aneuploidy55+ 
12Chromosome Duplication50+ 
13Chromosome Disorders49+ 
14Trisomy49+ 
15Genomic Instability47+ 
16Abnormal Karyotype46+ 
17Chromosome Breakage44+ 
18Hepatitis B41+ 
19Ring Chromosomes39+ 
20Facies37+ 
21Syndrome35+ 
22Craniofacial Abnormalities31+ 
23Chromosome Inversion29+ 
24Monosomy28+ 
25Sex Chromosome Aberrations26+ 
26Sex Chromosome Disorders25+ 
27Smith-Magenis Syndrome23+ 
28Genetic Predisposition to Disease22+ 
29Microcephaly22+ 
30Mental Retardation, X-Linked21+ 
31Congenital Abnormalities21+ 
32Language Development Disorders21+ 
33Muscle Hypotonia20+ 
34Autistic Disorder19+ 
35Psychomotor Disorders19+ 
36Primary Ovarian Insufficiency19+ 
37Prader-Willi Syndrome19+ 
38Tumor Virus Infections18+ 
39DiGeorge Syndrome18+ 
40Genetic Diseases, X-Linked16+ 
41Leukemia, Myeloid, Acute16+ 
42Uniparental Disomy15+ 
43Rett Syndrome15+ 
44Cleft Palate14+ 
45Limb Deformities, Congenital14+ 
46Disease Progression14+ 
47Nevus, Epithelioid and Spindle Cell14+ 
48Periventricular Nodular Heterotopia14+ 
49Growth Disorders14+ 
50Leukemia, Promyelocytic, Acute13+ 
51Skin Neoplasms13+ 
52Pyelectasis13+ 
53Epstein-Barr Virus Infections13+ 
54Pelizaeus-Merzbacher Disease13+ 
55Leukemia, Lymphocytic, Chronic, B-Cell13+ 
56Cell Transformation, Neoplastic12+ 
57Body Dysmorphic Disorders12+ 
58Child Development Disorders, Pervasive12+ 
59Isochromosomes12+ 
60Skin Abnormalities12+ 
61Herpesviridae Infections11+ 
62Neoplasms, Multiple Primary11+ 
63Agenesis of Corpus Callosum11+ 
64Tibial Neuropathy11+ 
65Heart Defects, Congenital11+ 
66Neoplasms, Second Primary11+ 
67Fetal Diseases11+ 
68Macrocephaly11+ 
69Mitochondrial Diseases10+ 
70Leukemia, Myelogenous, Chronic, BCR-ABL Positive10+ 
71Papillomavirus Infections10+ 
72Infertility, Male10+ 
73Hyperventilation10+ 
74Epilepsy10+ 
75Myelodysplastic Syndromes10+ 
76Brain Neoplasms10+ 
77Cleft Lip9+ 
78Oligospermia9+ 
79Eye Abnormalities9+ 
80Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative9+ 
81Down Syndrome9+ 
82Infertility9+ 
83XYY Karyotype8+ 
84Gonadal Dysgenesis, 46,XX8+ 
85Precursor Cell Lymphoblastic Leukemia-Lymphoma8+ 
86Obesity8+ 
87Turner Syndrome8+ 
88Lymphoma, B-Cell8+ 
89Philadelphia Chromosome8+ 
90Carcinoma, Large Cell8+ 
91Hand Deformities, Congenital8+ 
92Lymphoproliferative Disorders7+ 
93Child Behavior Disorders7+ 
94Lung Neoplasms7+ 
95Williams Syndrome7+ 
96Lymphoma, Mantle-Cell7+ 
97Lymphoma, T-Cell7+ 
98Polydactyly7+ 
99Glioblastoma7+ 
100Liver Neoplasms7+ 
101Abortion, Habitual7+ 
102Polyploidy7+ 
103Lymphoma, Follicular7+ 
104Fibrosarcoma7+ 
105Bone Neoplasms7+ 
106Leiomyosarcoma7+ 
107Breast Neoplasms7+ 
108Persistent Fetal Circulation Syndrome7+ 
109Chromosomal Instability7+ 
110Warts7+ 
111Neoplasm Recurrence, Local7+ 
112Adenocarcinoma7+ 
113Amino Acid Metabolism, Inborn Errors7+ 
114Angelman Syndrome7+ 
115Carcinoma, Neuroendocrine7+ 
116Melanoma7+ 
117Lymphoma, Large B-Cell, Diffuse6+ 
118Carcinoma, Squamous Cell6+ 
119Leukemia, Myelomonocytic, Acute6+ 
120Diseases in Twins6+ 
121Uterine Neoplasms6+ 
122Cri-du-Chat Syndrome6+ 
123Condylomata Acuminata6+ 
124Nondisjunction, Genetic6+ 
125Burkitt Lymphoma6+ 
126Leukemia, Monocytic, Acute5+ 
127Jacobsen Distal 11q Deletion Syndrome5+ 
128Hernia, Diaphragmatic5+ 
129Leukemia, Myeloid5+ 
130Osteosarcoma5+ 
131Hypertelorism5+ 
132Ovarian Neoplasms5+ 
133Klinefelter Syndrome5+ 
134Anemia, Refractory5+ 
135Fetal Growth Retardation5+ 
136Cell Transformation, Viral5+ 
137Cytomegalovirus Infections5+ 
138Metabolism, Inborn Errors5+ 
139Holoprosencephaly5+ 
140Disorders of Sex Development4+ 
141Lymphoma, Large-Cell, Immunoblastic4+ 
142Abortion, Spontaneous4+ 
143Chromosome Fragility4+ 
144Recurrence4+ 
145Precancerous Conditions4+ 
146Leukemia, Erythroblastic, Acute4+ 
147Leukemia, B-Cell4+ 
148Lymphoma4+ 
149Acute Disease4+ 
150Lymphoma, Non-Hodgkin4+ 
151Sarcoma, Synovial4+ 
152Gonadal Dysgenesis4+ 
153Carcinoma4+ 
154Kidney Neoplasms4+ 
155Neuroblastoma4+ 
156Blast Crisis4+ 
157Acquired Immunodeficiency Syndrome4+ 
158Sarcoma, Ewing4+ 
159Tetraploidy4+ 
160Tetrasomy4+ 
161Gonadoblastoma4+ 
162Gonadal Dysgenesis, 46,XY4+ 
163Infectious Mononucleosis4+ 
164Learning Disorders4+ 
165Stomach Neoplasms4+ 
166Genetic Diseases, Inborn4+ 
167Papilloma4+ 
168Micronuclei, Chromosome-Defective4+ 
169Neoplasms, Adipose Tissue4+ 
170Ichthyosis, X-Linked4+ 
171Aniridia4+ 
172Coloboma4+ 
173Arachnodactyly4+ 
174Classical Lissencephalies and Subcortical Band Heterotopias3+ 
175Disease Models, Animal3+ 
176Sarcoma3+ 
177Leukemia, Myelomonocytic, Chronic3+ 
178Hearing Loss3+ 
179Urogenital Neoplasms3+ 
180Hodgkin Disease3+ 
181Thalassemia3+ 
182Gonadal Dysgenesis, Mixed3+ 
183Muscular Dystrophy, Duchenne3+ 
184Lymphoma, AIDS-Related3+ 
185Neuroectodermal Tumors, Primitive3+ 
186Chronic Disease3+ 
187Precursor T-Cell Lymphoblastic Leukemia-Lymphoma3+ 
188Hyperplasia3+ 
189Leukemia-Lymphoma, Adult T-Cell3+ 
190Dwarfism3+ 
191Asthenozoospermia3+ 
192Azoospermia3+ 
193Leukemia3+ 
19446, XY Disorders of Sex Development3+ 
195Wolf-Hirschhorn Syndrome3+ 
196Beckwith-Wiedemann Syndrome3+ 
197Bowen's Disease3+ 
198Seizures3+ 
199Soft Tissue Neoplasms3+ 
200Epidermodysplasia Verruciformis3+ 
201Neoplasm Metastasis3+ 
202Liposarcoma3+ 
203Fragile X Syndrome3+ 
204Failure to Thrive3+ 
205Carcinoma in Situ3+ 
20646, XX Testicular Disorders of Sex Development3+ 
207Leukemia, Biphenotypic, Acute3+ 
208Medulloblastoma3+ 
209Noonan Syndrome3+ 
210Microphthalmos3+ 
211Hematologic Neoplasms3+ 
212Uterine Cervical Neoplasms3+ 
213Leukemia, Myeloid, Chronic-Phase3+ 
214Sarcoma, Clear Cell3+ 
215Rhabdomyosarcoma, Alveolar3+ 
216Lymphoma, B-Cell, Marginal Zone3+ 
217Dandy-Walker Syndrome3+ 
218Oligohydramnios3+ 
219Immunologic Deficiency Syndromes3+ 
220beta-Thalassemia3+ 
221Lymphoma, T-Cell, Cutaneous3+ 
222Lymphoma, T-Cell, Peripheral3+ 
223Oligodendroglioma3+ 
224Severe Combined Immunodeficiency3+ 
225Leukoplakia, Oral3+ 
226WAGR Syndrome3+ 
227Anus Neoplasms3+ 
228Li-Fraumeni Syndrome3+ 
229Skin Diseases, Viral3+ 
230Multiple Myeloma3+ 
231Muscular Dystrophies2+ 
232Leukoencephalopathy, Progressive Multifocal2+ 
233Myeloproliferative Disorders2+ 
234Nasopharyngeal Neoplasms2+ 
235Fanconi Anemia2+ 
236Nervous System Malformations2+ 
237Hypogonadism2+ 
238Lymphatic Metastasis2+ 
239Abdominal Neoplasms2+ 
240Anemia, Refractory, with Excess of Blasts2+ 
241Bone Marrow Neoplasms2+ 
242Herpes Simplex2+ 
243Histiocytosis, Non-Langerhans-Cell2+ 
244Parvoviridae Infections2+ 
245Burns, Chemical2+ 
246Clubfoot2+ 
247Motor Skills Disorders2+ 
248Splenic Neoplasms2+ 
249Fetal Death2+ 
250Craniosynostoses2+ 
251Neoplasms, Experimental2+ 
252Neoplasm, Residual2+ 
253Neurofibromatosis 12+ 
254Horse Diseases2+ 
255Language Disorders2+ 
256Speech Disorders2+ 
257Cerebellar Neoplasms2+ 
258Foot Deformities, Congenital2+ 
259Adenoma2+ 
260Elliptocytosis, Hereditary2+ 
261Vulvar Neoplasms2+ 
262Wilms Tumor2+ 
26322q11 Deletion Syndrome2+ 
264Precursor B-Cell Lymphoblastic Leukemia-Lymphoma2+ 
265Dermatofibrosarcoma2+ 
266Adenoma, Oxyphilic2+ 
267Micrognathism2+ 
268Carcinoma, Renal Cell2+ 
269Carcinoma, Hepatocellular2+ 
270Musculoskeletal Abnormalities2+ 
271Metaplasia2+ 
272Anus, Imperforate2+ 
273Neuroectodermal Tumors, Primitive, Peripheral2+ 
274Deafness2+ 
275Osteogenesis Imperfecta2+ 
276Metabolic Diseases2+ 
277Lymphoma, Extranodal NK-T-Cell2+ 
278Acrocephalosyndactylia2+ 
279Osteochondrodysplasias2+ 
280Leukemia, Megakaryoblastic, Acute2+ 
281Necrosis2+ 
282Lipid Metabolism, Inborn Errors2+ 
283Leukemia, Prolymphocytic2+ 
284Amenorrhea2+ 
285Pneumonia2+ 
286Velopharyngeal Insufficiency2+ 
287Sarcoma, Myeloid2+ 
288Retroperitoneal Neoplasms2+ 
289Keratitis, Herpetic2+ 
290Pregnancy Complications, Infectious2+ 
291Kidney Diseases2+ 
292Cervical Intraepithelial Neoplasia2+ 
293Pancytopenia2+ 
294Liver Diseases2+ 
295Epilepsies, Myoclonic2+ 
296AIDS-Related Opportunistic Infections2+ 
297Nervous System Diseases2+ 
298Immunoblastic Lymphadenopathy2+ 
299Retinoblastoma2+ 
300Gliosarcoma2+ 
301Malformations of Cortical Development2+ 
302Syndactyly2+ 
303Fibrous Dysplasia, Polyostotic2+ 
304Nose Neoplasms2+ 
305Lymphoma, Large-Cell, Anaplastic2+ 
306Leukemia, Plasma Cell2+ 
307Hepatitis, Viral, Human2+ 
308Ganglioglioma2+ 
309Polyhydramnios2+ 
310Hemophilia A2+ 
311Smooth Muscle Tumor2+ 
312Pleural Neoplasms2+ 
313Central Nervous System Neoplasms2+ 
314Carcinosarcoma2+ 
315Granuloma, Plasma Cell2+ 
316Tongue Neoplasms2+ 
317Intestinal Neoplasms2+ 
318Tonsillar Neoplasms2+ 
319Tetralogy of Fallot2+ 
320Graft vs Host Disease2+ 
321Thyroid Neoplasms2+ 
322Urinary Bladder Neoplasms1+ 
323Diffuse Cerebral Sclerosis of Schilder1+ 
324Ulcer1+ 
325Rhabdoid Tumor1+ 
326Neoplasm Invasiveness1+ 
327Parotid Neoplasms1+ 
328Liver Failure1+ 
329Carcinoma, Verrucous1+ 
330Empyema, Pleural1+ 
331Acidosis1+ 
332Pituitary Neoplasms1+ 
333Adenomatous Polyposis Coli1+ 
334Osteoarthritis1+ 
335Lipoma1+ 
336Hydroa Vacciniforme1+ 
337Hepatitis A1+ 
338Histiocytic Sarcoma1+ 
339Postoperative Complications1+ 
340Kearns-Sayre Syndrome1+ 
341Mouth Neoplasms1+ 
342Neoplasms, Muscle Tissue1+ 
343Esophageal Neoplasms1+ 
344Meningeal Neoplasms1+ 
345Charcot-Marie-Tooth Disease1+ 
346Leukemia, Lymphoid1+ 
347Hydrocephalus1+ 
348Vaginal Neoplasms1+ 
349Pigmentation Disorders1+ 
350Thrombocytopenia1+ 
351Skin Diseases, Bacterial1+ 
352Encephalitis, Viral1+ 
353Gaucher Disease1+ 
354Carcinoma, Papillary1+ 
355Lymphadenitis1+ 
356Spasms, Infantile1+ 
357Adrenal Gland Neoplasms1+ 
358Puberty, Delayed1+ 
359Bacteremia1+ 
360Thrombasthenia1+ 
361Hypothyroidism1+ 
362Pulmonary Blastoma1+ 
363Hypereosinophilic Syndrome1+ 
364Refsum Disease1+ 
365Bone Marrow Diseases1+ 
366Genital Neoplasms, Female1+ 
367Blepharophimosis1+ 
368Skin Diseases1+ 
369Histiocytoma, Malignant Fibrous1+ 
370Lymphocytosis1+ 
371Sialic Acid Storage Disease1+ 
372Leukemic Infiltration1+ 
373Mediastinal Neoplasms1+ 
374Chlamydia Infections1+ 
375Hypopigmentation1+ 
376Sarcoma, Kaposi1+ 
377Hyperargininemia1+ 
378Placenta Diseases1+ 
379Prostatic Neoplasms1+ 
380Teratoma1+ 
381Eosinophilia1+ 
382Neoplasms, Complex and Mixed1+ 
383Rare Diseases1+ 
384Encephalitis1+ 
385Granulomatous Disease, Chronic1+ 
386Pneumonia, Viral1+ 
387Laryngeal Neoplasms1+ 
388Hepatoblastoma1+ 
389Coinfection1+ 
390Hand Dermatoses1+ 
391Glycogen Storage Disease Type II1+ 
392Meningioma1+ 
393Multiple Endocrine Neoplasia Type 11+ 
394Inflammation1+ 
395Composite Lymphoma1+ 
396Facial Dermatoses1+ 
397Lesch-Nyhan Syndrome1+ 
398Wound Infection1+ 
399Neuromuscular Diseases1+ 
400Rhabdomyosarcoma, Embryonal1+ 
401Pseudolymphoma1+ 
402Empyema, Tuberculous1+ 
403Carcinoma, Ductal, Breast1+ 
404Papilloma, Inverted1+ 
405Silver-Russell Syndrome1+ 
406Hydatidiform Mole1+ 
407Keratosis1+ 
408Malabsorption Syndromes1+ 
409Leg Ulcer1+ 
41046, XX Disorders of Sex Development1+ 
411Opportunistic Infections1+ 
412Cushing Syndrome1+ 
413Lymphomatoid Granulomatosis1+ 
414Leukoplakia, Hairy1+ 
415Anemia, Aplastic1+ 
416Testicular Neoplasms1+ 
417Hypobetalipoproteinemias1+ 
418Gastrointestinal Neoplasms1+ 
419Holocarboxylase Synthetase Deficiency1+ 
420AIDS-Related Complex1+ 
421Uveal Neoplasms1+ 
422Plasmacytoma1+ 
423Rectal Neoplasms1+ 
424Pancreatic Neoplasms1+ 
425Rotavirus Infections1+ 
426Barrett Esophagus1+ 
427AIDS Dementia Complex1+ 
428Salivary Gland Neoplasms1+ 
429Polycythemia Vera1+ 
430Adenoviridae Infections1+ 
431Rubinstein-Taybi Syndrome1+ 
432Carcinoma, Small Cell1+ 
433Adrenoleukodystrophy1+ 
434Endometrial Neoplasms1+ 
435Pleural Effusion, Malignant1+ 
436Infertility, Female1+ 
437Neoplasms1+ 
438Legionellosis1+ 
439Deltaretrovirus Infections1+ 
440Retinal Neoplasms1+ 
441Adenovirus Infections, Human1+ 
442Infant, Newborn, Diseases1+ 
443Conjunctival Neoplasms1+ 
444Wiskott-Aldrich Syndrome1+ 
445Gastrointestinal Stromal Tumors1+ 
446Eye Neoplasms1+ 
447Campomelic Dysplasia1+ 
448Muscle Neoplasms1+ 
449Corneal Dystrophies, Hereditary1+ 
450Cardiomyopathy, Dilated1+ 
451Genital Neoplasms, Male1+ 
452Mycobacterium Infections, Nontuberculous1+ 
453Carcinoma, Merkel Cell1+ 
454Muscular Diseases1+ 
455Leukemia, T-Cell1+ 
456Hypoparathyroidism1+ 
457Ornithine Carbamoyltransferase Deficiency Disease1+ 
458Leukemia, Radiation-Induced1+ 
459Lung Diseases1+ 
460Leukemia, Prolymphocytic, T-Cell1+ 
461Sclerosis1+ 
462Dysgerminoma1+ 
463Perivascular Epithelioid Cell Neoplasms1+ 
464von Hippel-Lindau Disease1+ 
465Neurofibromatosis 21+ 
466Cholestasis, Intrahepatic1+ 
467Neural Tube Defects1+ 
468Insect Bites and Stings1+ 
469Arthritis, Rheumatoid1+ 
470Hernia, Umbilical1+ 
471Rhabdomyosarcoma1+ 
472Glioma1+ 
473Lip Neoplasms1+ 
474Anus Diseases1+ 
475Zellweger Syndrome1+ 
476Edema1+ 
477Sarcoma, Small Cell1+ 
478Astrocytoma1+ 
479Adenoma, Pleomorphic1+ 
480Hantavirus Pulmonary Syndrome1+ 
481beta-Mannosidosis1+ 
482Liposarcoma, Myxoid1+ 
483Myocarditis1+ 
484Germinoma1+ 
485Erythema Infectiosum1+ 
486Microsatellite Instability1+ 
487Skin Ulcer1+ 
488Cross Infection1+ 
489Primary Myelofibrosis1+ 
490Hypophosphatasia1+ 
491Congenital Hypothyroidism1+ 
492Neoplasms, Germ Cell and Embryonal1+ 
493Leiomyoma1+ 
494Epidermolysis Bullosa Dystrophica1+ 
495Peritoneal Neoplasms1+ 
496Colonic Neoplasms1+ 
497Synostosis1+ 
498Apraxias1+ 
499Gout1+ 
500Lymphoma, Primary Effusion1+ 
501Branchio-Oto-Renal Syndrome1+ 
502Bronchial Neoplasms1+ 
503Kidney Failure, Chronic1+ 
504Maple Syrup Urine Disease1+ 
505Cerebellar Ataxia1+ 
506Liver Cirrhosis1+ 
507Diarrhea1+ 
508Paraparesis, Tropical Spastic1+ 
509Ependymoma1+ 
510Dysgammaglobulinemia1+ 
511Superinfection1+ 
512Cholestasis1+ 
513Enterovirus Infections1+ 
514Neoplasms, Neuroepithelial1+ 
515Hartnup Disease1+ 
516Head and Neck Neoplasms1+ 
517Histiocytoma, Benign Fibrous1+ 
518Blepharoptosis1+ 
519Mouth Diseases1+ 
520Eye Diseases, Hereditary1+ 
521Phyllodes Tumor1+ 
522Hyperammonemia1+ 
523Glycogen Storage Disease1+ 
524Nephritis, Hereditary1+ 
525Prolactinoma1+ 
526Hyperkinesis1+ 
527Jaundice, Chronic Idiopathic1+ 
528Carcinoma, Lobular1+ 
529Peroxisomal Disorders1+ 
530Mycosis Fungoides1+ 
531Arthritis, Reactive1+ 
532Helicobacter Infections1+ 
533Carcinoid Tumor1+ 
534Heart Septal Defects, Ventricular1+ 
535Cholangiocarcinoma1+ 
536Skin Diseases, Genetic1+ 
537Penile Neoplasms1+ 
538Lymphatic Diseases1+ 
539Hamartoma1+ 
540Nystagmus, Congenital1+ 
541Adrenal Hyperplasia, Congenital1+ 
542Nerve Sheath Neoplasms1+ 
543Adenocarcinoma, Mucinous1+ 
544Chondrosarcoma1+ 
545Goiter1+ 
546Leukocyte-Adhesion Deficiency Syndrome1+ 
547Night Blindness1+ 

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