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DiseasesRatingBibliogr.Expand
1Chromosome Duplication100+ 
2Chromosome Aberrations70+ 
3Chromosome Disorders48+ 
4Chromosome Deletion44+ 
5Ring Chromosomes36+ 
6Chromosome Inversion30+ 
7Sex Chromosome Aberrations25+ 
8Abnormalities, Multiple24+ 
9Intellectual Disability21+ 
10Translocation, Genetic19+ 
11Trisomy18+ 
12Chromosome Breakage15+ 
13Developmental Disabilities13+ 
14Aneuploidy12+ 
15Digestive System Abnormalities12+ 
16Syndrome11+ 
17Philadelphia Chromosome10+ 
18Cysts9+ 
19Chromosome Fragility9+ 
20Growth Disorders8+ 
21Psychomotor Disorders8+ 
22Prader-Willi Syndrome8+ 
23Esophageal Cyst7+ 
24Sex Chromosome Disorders7+ 
25Uniparental Disomy7+ 
26Down Syndrome7+ 
27Facies6+ 
28Monosomy6+ 
29Autistic Disorder6+ 
30Microcephaly6+ 
31Congenital Abnormalities6+ 
32Language Development Disorders5+ 
33Nondisjunction, Genetic5+ 
34Abnormal Karyotype5+ 
35Turner Syndrome5+ 
36Mental Retardation, X-Linked5+ 
37Muscle Hypotonia5+ 
38Polyploidy5+ 
39Chromosomal Instability4+ 
40Stomach Diseases4+ 
41Hand Deformities, Congenital4+ 
42Leukemia, Myeloid4+ 
43Urogenital Abnormalities4+ 
44Oligospermia4+ 
45Isochromosomes4+ 
46Heart Defects, Congenital4+ 
47Charcot-Marie-Tooth Disease4+ 
48Sex Chromosome Disorders of Sex Development4+ 
49Leukemia, Myeloid, Acute4+ 
50DiGeorge Syndrome4+ 
51Angelman Syndrome4+ 
52Infertility, Male4+ 
53Abortion, Habitual4+ 
54Genetic Predisposition to Disease4+ 
55Cleft Palate4+ 
56Foot Deformities, Congenital3+ 
57Craniofacial Abnormalities3+ 
58Gonadal Dysgenesis3+ 
59Fetal Growth Retardation3+ 
60Learning Disorders3+ 
61Hypertelorism3+ 
62Polydactyly3+ 
63Hypospadias3+ 
64XYY Karyotype3+ 
65Cri-du-Chat Syndrome3+ 
66Leukemia, Myelogenous, Chronic, BCR-ABL Positive3+ 
67Tetrasomy3+ 
68Beckwith-Wiedemann Syndrome3+ 
69Pelizaeus-Merzbacher Disease3+ 
70Klinefelter Syndrome3+ 
71Eye Abnormalities3+ 
72Epispadias3+ 
73Myelodysplastic Syndromes3+ 
74Agenesis of Corpus Callosum3+ 
75Silver-Russell Syndrome3+ 
76Child Development Disorders, Pervasive3+ 
77Choristoma3+ 
78Fetal Diseases3+ 
79Abortion, Spontaneous2+ 
80Disorders of Sex Development2+ 
81Leukemia, Lymphoid2+ 
82Epilepsy2+ 
83Wolf-Hirschhorn Syndrome2+ 
84Azoospermia2+ 
85Amenorrhea2+ 
86Anus, Imperforate2+ 
87Macrocephaly2+ 
88Limb Deformities, Congenital2+ 
89Duodenal Diseases2+ 
90Precursor Cell Lymphoblastic Leukemia-Lymphoma2+ 
91Coloboma2+ 
92Vesico-Ureteral Reflux2+ 
93Diseases in Twins2+ 
94Speech Disorders2+ 
95Muscular Dystrophy, Duchenne2+ 
96Leukemia2+ 
97Bladder Exstrophy2+ 
98Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative2+ 
99Craniosynostoses2+ 
100Clubfoot2+ 
101Dwarfism2+ 
102Holoprosencephaly2+ 
103Cleft Lip2+ 
104Genetic Diseases, X-Linked2+ 
105Micrognathism2+ 
106Preleukemia2+ 
107Ureterocele2+ 
108Meningomyelocele2+ 
109Rectal Diseases2+ 
110Leukemia, Myelomonocytic, Acute2+ 
111Leukemia, Monocytic, Acute2+ 
112Ileal Diseases2+ 
113Failure to Thrive2+ 
114Gonadal Dysgenesis, 46,XY2+ 
115Motor Skills Disorders2+ 
116Primary Ovarian Insufficiency2+ 
117Retinoblastoma2+ 
118Leukemia, Erythroblastic, Acute1+ 
119Syndactyly1+ 
120Obesity1+ 
121Blast Crisis1+ 
122Gonadal Dysgenesis, Mixed1+ 
123Recurrence1+ 
124Intestinal Diseases1+ 
125Muscle Hypertonia1+ 
126Seizures1+ 
127Maxillofacial Abnormalities1+ 
128Hernia, Umbilical1+ 
129Noonan Syndrome1+ 
130Ataxia Telangiectasia1+ 
131Cell Transformation, Neoplastic1+ 
132Respiratory System Abnormalities1+ 
133Hydronephrosis1+ 
134Myeloproliferative Disorders1+ 
135Burkitt Lymphoma1+ 
136Hypogonadism1+ 
137Dandy-Walker Syndrome1+ 
138Williams Syndrome1+ 
139Lower Extremity Deformities, Congenital1+ 
140Child Behavior Disorders1+ 
141Hereditary Sensory and Motor Neuropathy1+ 
142Disease Progression1+ 
143Mouth Abnormalities1+ 
144Genomic Instability1+ 
145Muscular Dystrophies1+ 
146Fetal Death1+ 
147Anemia, Refractory, with Excess of Blasts1+ 
148Wilms Tumor1+ 
149Mesenteric Cyst1+ 
150Micronuclei, Chromosome-Defective1+ 
151Disease Models, Animal1+ 
152Esophageal Diseases1+ 
153Craniofacial Dysostosis1+ 
154Acute Disease1+ 
155Arthrogryposis1+ 
156Spinal Dysraphism1+ 
157Colonic Diseases1+ 
158Abnormalities, Severe Teratoid1+ 
159Pancreatitis1+ 
160Mediastinal Cyst1+ 
161Leukemia, Myelomonocytic, Chronic1+ 
162Melena1+ 
163Language Disorders1+ 
164Nervous System Malformations1+ 
165Hyperkinesis1+ 
166Gastrointestinal Hemorrhage1+ 
167Epilepsy, Generalized1+ 
168Pigmentation Disorders1+ 
169Sotos Syndrome1+ 
170Gonadal Dysgenesis, 46,XX1+ 
171Spasms, Infantile1+ 
172Neuroblastoma1+ 
173Tongue Diseases1+ 
174Duane Retraction Syndrome1+ 
175Intestinal Obstruction1+ 
176Abdominal Pain1+ 
177Gonadoblastoma1+ 
178Microphthalmos1+ 
179Intussusception1+ 
180Rectal Prolapse1+ 
181Kidney Neoplasms1+ 
182Pancreatic Cyst1+ 
183Cryptorchidism1+ 
184CHARGE Syndrome1+ 
185Musculoskeletal Abnormalities1+ 
186Rare Diseases1+ 
187Rubinstein-Taybi Syndrome1+ 
188Scoliosis1+ 
189Infertility1+ 
190Tetralogy of Fallot1+ 
191Neoplasms, Adipose Tissue1+ 
192Urinary Incontinence1+ 
193Dysgerminoma1+ 
194Precursor B-Cell Lymphoblastic Leukemia-Lymphoma1+ 
195Hearing Loss1+ 
196Hernia, Diaphragmatic1+ 
197Birth Weight1+ 
198Immunologic Deficiency Syndromes1+ 
199Adenocarcinoma1+ 
200Genetic Diseases, Inborn1+ 
201Body Dysmorphic Disorders1+ 
202Rectovaginal Fistula1+ 
203Jacobsen Distal 11q Deletion Syndrome1+ 
204Vomiting1+ 
205Asthenozoospermia1+ 
206Cecal Diseases1+ 
207Deafness1+ 
208Neural Tube Defects1+ 
209Urethral Diseases1+ 
210Leukemia, Promyelocytic, Acute1+ 
211Blepharoptosis1+ 
212Rectal Fistula1+ 
213Puberty, Delayed1+ 
214Primary Myelofibrosis1+ 
215Single Umbilical Artery1+ 
216Aniridia1+ 
21746, XX Disorders of Sex Development1+ 
218Hematologic Diseases1+ 

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