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Symptoms:

    


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DiseasesRatingBibliogr.Expand
1Syndrome100+ 
2Abnormalities, Multiple80+ 
3Death69+ 
4Genetic Diseases, Inborn67+ 
5Chromosome Aberrations66+ 
6Translocation, Genetic62+ 
7Chromosome Disorders59+ 
8Intellectual Disability58+ 
9Fetishism (Psychiatric)55+ 
10Diseases in Twins54+ 
11Uniparental Disomy52+ 
12Foot Deformities, Congenital51+ 
13Thalassemia49+ 
14Chromosome Inversion49+ 
15Trisomy48+ 
16beta-Thalassemia48+ 
17Anxiety, Separation45+ 
18Myotonic Dystrophy45+ 
19Chromosome Deletion45+ 
20Hand Deformities, Congenital42+ 
21Elliptocytosis, Hereditary41+ 
22Growth Disorders38+ 
23Osteochondrodysplasias38+ 
24Paraphilias38+ 
25Erythroblastosis, Fetal37+ 
26alpha-Thalassemia37+ 
27Abortion, Habitual36+ 
28Syndactyly36+ 
29Thrombocytopenia, Neonatal Alloimmune35+ 
30Neoplastic Syndromes, Hereditary35+ 
31Hypospadias35+ 
32Hypertelorism34+ 
33Facies34+ 
34Oligospermia34+ 
35Transvestism33+ 
36Eye Abnormalities32+ 
37Sex Chromosome Aberrations31+ 
38Developmental Disabilities30+ 
39Hemoglobinopathies30+ 
40Polydactyly30+ 
41Charcot-Marie-Tooth Disease30+ 
42Huntington Disease30+ 
43Gonadal Dysgenesis, 46,XY28+ 
44Tooth Abnormalities28+ 
45Anticipation, Genetic28+ 
46Dysostoses26+ 
47Craniofacial Abnormalities26+ 
48Infertility, Male26+ 
49Dysgerminoma26+ 
50Marfan Syndrome26+ 
51Mental Disorders26+ 
52XYY Karyotype26+ 
53Muscle Hypotonia26+ 
54Congenital Hypothyroidism26+ 
55Child Behavior Disorders26+ 
56Macrostomia25+ 
57Chromosome Fragility25+ 
58Disease Susceptibility25+ 
59Bone Diseases, Developmental25+ 
60Limb Deformities, Congenital25+ 
61Craniosynostoses24+ 
62Hyperlipidemia, Familial Combined24+ 
63Nondisjunction, Genetic24+ 
64Learning Disorders24+ 
65Sex Chromosome Disorders24+ 
66LEOPARD Syndrome24+ 
67Cystic Fibrosis24+ 
68Blood Coagulation Disorders24+ 
69Seizures, Febrile24+ 
70Spinocerebellar Ataxias24+ 
71Immunologic Deficiency Syndromes24+ 
72Metabolism, Inborn Errors23+ 
73Down Syndrome23+ 
74Pseudohypoaldosteronism23+ 
75Nails, Malformed23+ 
76Chromosome Duplication23+ 
77DiGeorge Syndrome23+ 
78Infant, Newborn, Diseases23+ 
79Cleft Palate23+ 
80Afibrinogenemia22+ 
81Angelman Syndrome22+ 
82Factor VII Deficiency22+ 
83Microcephaly22+ 
84Olfaction Disorders22+ 
85Synostosis22+ 
86Adjustment Disorders21+ 
87Diabetes Mellitus21+ 
88Achondroplasia21+ 
89Masochism21+ 
90Monosomy21+ 
91Language Development Disorders21+ 
92Psychomotor Disorders21+ 
93Child Development Disorders, Pervasive20+ 
94Hearing Loss, Sensorineural20+ 
95Retinitis Pigmentosa20+ 
96Hypertrichosis20+ 
97Hemoglobin C Disease20+ 
98Muscular Dystrophy, Facioscapulohumeral20+ 
99Prader-Willi Syndrome20+ 
100Dwarfism20+ 
101Disorders of Sex Development20+ 
102Puberty, Precocious20+ 
103Aneuploidy20+ 
104Tay-Sachs Disease20+ 
105Hypobetalipoproteinemias20+ 
106Hypogonadism19+ 
107Fetal Diseases19+ 
108Deafness19+ 
109Ectodermal Dysplasia19+ 
110Neurofibromatosis 119+ 
111Renal Aminoacidurias19+ 
112Chromosome Breakage19+ 
113Spherocytosis, Hereditary18+ 
114Muscular Diseases18+ 
115Adenomatous Polyposis Coli18+ 
116Noonan Syndrome18+ 
117Retinoblastoma18+ 
118Hypophosphatasia18+ 
119Hemorrhagic Disorders18+ 
120Hyperlipoproteinemia Type II18+ 
121Autistic Disorder18+ 
122Ehlers-Danlos Syndrome17+ 
123Pigmentation Disorders17+ 
124Cleft Lip17+ 
125Hypoprothrombinemias17+ 
126Thrombocytopenia17+ 
127Abnormal Karyotype17+ 
128Carbohydrate Metabolism, Inborn Errors17+ 
129Feminization17+ 
130Recurrence17+ 
131Muscular Atrophy, Spinal17+ 
132Eczema17+ 
133Hypophosphatemia, Familial17+ 
134Muscular Atrophy16+ 
135Failure to Thrive16+ 
136Exostoses, Multiple Hereditary16+ 
137Personality Disorders16+ 
138Spinocerebellar Degenerations16+ 
139Thyroid Hormone Resistance Syndrome16+ 
140Azoospermia16+ 
141Retinal Degeneration16+ 
142Goiter16+ 
143Pachyonychia Congenita16+ 
144Munchausen Syndrome16+ 
145Atrophy16+ 
146Muscular Dystrophies16+ 
147Attention Deficit and Disruptive Behavior Disorders16+ 
148Craniofacial Dysostosis15+ 
149Diabetes Mellitus, Type 215+ 
150Abortion, Spontaneous15+ 
151Speech Disorders15+ 
152Arthrogryposis15+ 
153Hyperlipoproteinemia Type I15+ 
154Myotonia Congenita15+ 
155Testicular Neoplasms15+ 
156Protein C Deficiency15+ 
157Chronic Disease15+ 
15846, XY Disorders of Sex Development15+ 
159Muscle Weakness15+ 
160Genomic Instability15+ 
161Blood Protein Disorders15+ 
162Cerebellar Ataxia15+ 
163Turner Syndrome15+ 
164Micrognathism15+ 
165Coloboma15+ 
166Beckwith-Wiedemann Syndrome15+ 
167Gonadal Dysgenesis, Mixed14+ 
168von Willebrand Diseases14+ 
169Leukodystrophy, Metachromatic14+ 
170Acrocephalosyndactylia14+ 
171Amyloidosis, Familial14+ 
172Attention Deficit Disorder with Hyperactivity14+ 
173Porphyria, Erythropoietic14+ 
174Hypothyroidism14+ 
175Chromosomal Instability14+ 
176Hair Diseases14+ 
177Hereditary Sensory and Autonomic Neuropathies14+ 
178Substance-Related Disorders14+ 
179Kallmann Syndrome14+ 
180Apnea14+ 
181Gilbert Disease14+ 
182Adrenal Hyperplasia, Congenital14+ 
183Autoimmune Diseases14+ 
184Myoclonic Epilepsies, Progressive13+ 
185Heart Defects, Congenital13+ 
186Hemophilia A13+ 
187Shaken Baby Syndrome13+ 
188Neoplasms, Multiple Primary13+ 
189Blepharophimosis13+ 
190Cystinuria13+ 
191Epidermolysis Bullosa Dystrophica13+ 
192Kidney Failure, Chronic13+ 
193Klinefelter Syndrome13+ 
194Factor V Deficiency13+ 
195Genetic Diseases, X-Linked13+ 
196Peutz-Jeghers Syndrome13+ 
197Gynecomastia13+ 
198Teratoma13+ 
199Unconsciousness13+ 
200Kidney Diseases13+ 
201Gardner Syndrome13+ 
202Thrombasthenia12+ 
203Aniridia12+ 
204Thrombophilia12+ 
205Machado-Joseph Disease12+ 
206Familial Hypophosphatemic Rickets12+ 
207Disease Progression12+ 
208Nephritis, Hereditary12+ 
209De Lange Syndrome12+ 
210Factor XI Deficiency12+ 
211Cataract12+ 
212Hemophilia B12+ 
213Seizures12+ 
214Hyperuricemia12+ 
215Epilepsies, Myoclonic12+ 
216Gonadal Dysgenesis12+ 
217Facial Asymmetry12+ 
218Gigantism12+ 
219Cherubism12+ 
220Vesico-Ureteral Reflux12+ 
221Ectopia Lentis12+ 
222Psychophysiologic Disorders12+ 
223Diabetes Mellitus, Type 112+ 
224Keratosis12+ 
225Porphyrias12+ 
226Neutropenia12+ 
227Alopecia11+ 
228Multiple Endocrine Neoplasia Type 111+ 
229Jaundice, Neonatal11+ 
230Fragile X Syndrome11+ 
231Blood Group Incompatibility11+ 
232Cafe-au-Lait Spots11+ 
233Bernard-Soulier Syndrome11+ 
234Fetal Death11+ 
235Anemia, Hemolytic11+ 
236Factor X Deficiency11+ 
237Proteinuria11+ 
238Anemia11+ 
239Dental Enamel Hypoplasia11+ 
240Keratoderma, Palmoplantar11+ 
241Ataxia11+ 
242Hypertrophy11+ 
243Neuromuscular Diseases11+ 
244Hearing Loss11+ 
245Cardiomyopathies11+ 
246Lipid Metabolism, Inborn Errors11+ 
247Epilepsy, Generalized11+ 
248Skin Diseases10+ 
249Anus, Imperforate10+ 
250Polycythemia10+ 
251Cardiomyopathy, Hypertrophic10+ 
252Blepharoptosis10+ 
253Holoprosencephaly10+ 
254Hyperparathyroidism10+ 
255Polycystic Kidney Diseases10+ 
256Hypocalcemia10+ 
257Spasms, Infantile10+ 
258Fabry Disease10+ 
259Lymphoproliferative Disorders10+ 
260Malignant Hyperthermia10+ 
261Connective Tissue Diseases10+ 
262Pseudohypoparathyroidism10+ 
263Epidermolysis Bullosa Simplex10+ 
264Infectious Mononucleosis10+ 
265Intracranial Hemorrhages10+ 
266Alcoholism10+ 
267Purpura, Thrombocytopenic10+ 
268alpha 1-Antitrypsin Deficiency10+ 
269Hyperthyroidism10+ 
270Brain Diseases10+ 
271Amino Acid Metabolism, Inborn Errors9+ 
272Antithrombin III Deficiency9+ 
273Cardiomegaly9+ 
274Eye Diseases9+ 
275Sickle Cell Trait9+ 
276Corneal Opacity9+ 
277Stress Disorders, Post-Traumatic9+ 
278Lacrimal Apparatus Diseases9+ 
279Protein S Deficiency9+ 
280Colorectal Neoplasms, Hereditary Nonpolyposis9+ 
281Obesity9+ 
282Skin Neoplasms9+ 
283Pheochromocytoma9+ 
284Optic Atrophy9+ 
285Fanconi Anemia9+ 
286Long QT Syndrome9+ 
287Anemia, Sickle Cell9+ 
288Graft vs Host Disease8+ 
289Hyperplasia8+ 
290Scoliosis8+ 
291Glomerulonephritis, Membranous8+ 
292Gaucher Disease8+ 
293Epilepsy8+ 
294Glomerulosclerosis, Focal Segmental8+ 
295Pregnancy Complications8+ 
296Glomerulonephritis8+ 
297Anodontia8+ 
298Corneal Dystrophies, Hereditary8+ 
299Retinal Hemorrhage8+ 
300von Hippel-Lindau Disease8+ 
301Thrombophlebitis8+ 
302Thrombosis7+ 
303Basal Cell Nevus Syndrome7+ 
304Hemolytic-Uremic Syndrome7+ 
305Glaucoma7+ 
306Pregnancy Complications, Hematologic7+ 
307Neoplasms, Germ Cell and Embryonal7+ 
308Corneal Diseases7+ 
309Adrenal Gland Neoplasms7+ 
310Hypertension7+ 
311Tuberous Sclerosis7+ 
312Acute Disease6+ 
313Hypercalcemia6+ 
314Calcinosis6+ 
315Leukemia, Myeloid, Acute6+ 
316Brain Neoplasms6+ 
317Anemia, Aplastic5+ 
318HIV Infections5+ 
319Adenoma5+ 

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