| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Chromosome Duplication | 100 | + + | |
2 | Chromosome Aberrations | 70 | + + | |
3 | Chromosome Disorders | 48 | + + | |
4 | Chromosome Deletion | 44 | + + | |
5 | Ring Chromosomes | 36 | + + | |
6 | Chromosome Inversion | 30 | + + | |
7 | Sex Chromosome Aberrations | 25 | + + | |
8 | Abnormalities, Multiple | 24 | + + | |
9 | Intellectual Disability | 21 | + + | |
10 | Translocation, Genetic | 19 | + + | |
11 | Trisomy | 18 | + + | |
12 | Chromosome Breakage | 15 | + + | |
13 | Developmental Disabilities | 13 | + + | |
14 | Aneuploidy | 12 | + + | |
15 | Digestive System Abnormalities | 12 | + + | |
16 | Syndrome | 11 | + + | |
17 | Philadelphia Chromosome | 10 | + + | |
18 | Cysts | 9 | + + | |
19 | Chromosome Fragility | 9 | + + | |
20 | Growth Disorders | 8 | + + | |
21 | Psychomotor Disorders | 8 | + + | |
22 | Prader-Willi Syndrome | 8 | + + | |
23 | Esophageal Cyst | 7 | + + | |
24 | Sex Chromosome Disorders | 7 | + + | |
25 | Uniparental Disomy | 7 | + + | |
26 | Down Syndrome | 7 | + + | |
27 | Facies | 6 | + + | |
28 | Monosomy | 6 | + + | |
29 | Autistic Disorder | 6 | + + | |
30 | Microcephaly | 6 | + + | |
31 | Congenital Abnormalities | 6 | + + | |
32 | Language Development Disorders | 5 | + + | |
33 | Nondisjunction, Genetic | 5 | + + | |
34 | Abnormal Karyotype | 5 | + + | |
35 | Turner Syndrome | 5 | + + | |
36 | Mental Retardation, X-Linked | 5 | + + | |
37 | Muscle Hypotonia | 5 | + + | |
38 | Polyploidy | 5 | + + | |
39 | Chromosomal Instability | 4 | + + | |
40 | Stomach Diseases | 4 | + + | |
41 | Hand Deformities, Congenital | 4 | + + | |
42 | Leukemia, Myeloid | 4 | + + | |
43 | Urogenital Abnormalities | 4 | + + | |
44 | Oligospermia | 4 | + + | |
45 | Isochromosomes | 4 | + + | |
46 | Heart Defects, Congenital | 4 | + + | |
47 | Charcot-Marie-Tooth Disease | 4 | + + | |
48 | Sex Chromosome Disorders of Sex Development | 4 | + + | |
49 | Leukemia, Myeloid, Acute | 4 | + + | |
50 | DiGeorge Syndrome | 4 | + + | |
51 | Angelman Syndrome | 4 | + + | |
52 | Infertility, Male | 4 | + + | |
53 | Abortion, Habitual | 4 | + + | |
54 | Genetic Predisposition to Disease | 4 | + + | |
55 | Cleft Palate | 4 | + + | |
56 | Foot Deformities, Congenital | 3 | + + | |
57 | Craniofacial Abnormalities | 3 | + + | |
58 | Gonadal Dysgenesis | 3 | + + | |
59 | Fetal Growth Retardation | 3 | + + | |
60 | Learning Disorders | 3 | + + | |
61 | Hypertelorism | 3 | + + | |
62 | Polydactyly | 3 | + + | |
63 | Hypospadias | 3 | + + | |
64 | XYY Karyotype | 3 | + + | |
65 | Cri-du-Chat Syndrome | 3 | + + | |
66 | Leukemia, Myelogenous, Chronic, BCR-ABL Positive | 3 | + + | |
67 | Tetrasomy | 3 | + + | |
68 | Beckwith-Wiedemann Syndrome | 3 | + + | |
69 | Pelizaeus-Merzbacher Disease | 3 | + + | |
70 | Klinefelter Syndrome | 3 | + + | |
71 | Eye Abnormalities | 3 | + + | |
72 | Epispadias | 3 | + + | |
73 | Myelodysplastic Syndromes | 3 | + + | |
74 | Agenesis of Corpus Callosum | 3 | + + | |
75 | Silver-Russell Syndrome | 3 | + + | |
76 | Child Development Disorders, Pervasive | 3 | + + | |
77 | Choristoma | 3 | + + | |
78 | Fetal Diseases | 3 | + + | |
79 | Abortion, Spontaneous | 2 | + + | |
80 | Disorders of Sex Development | 2 | + + | |
81 | Leukemia, Lymphoid | 2 | + + | |
82 | Epilepsy | 2 | + + | |
83 | Wolf-Hirschhorn Syndrome | 2 | + + | |
84 | Azoospermia | 2 | + + | |
85 | Amenorrhea | 2 | + + | |
86 | Anus, Imperforate | 2 | + + | |
87 | Macrocephaly | 2 | + + | |
88 | Limb Deformities, Congenital | 2 | + + | |
89 | Duodenal Diseases | 2 | + + | |
90 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | 2 | + + | |
91 | Coloboma | 2 | + + | |
92 | Vesico-Ureteral Reflux | 2 | + + | |
93 | Diseases in Twins | 2 | + + | |
94 | Speech Disorders | 2 | + + | |
95 | Muscular Dystrophy, Duchenne | 2 | + + | |
96 | Leukemia | 2 | + + | |
97 | Bladder Exstrophy | 2 | + + | |
98 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | 2 | + + | |
99 | Craniosynostoses | 2 | + + | |
100 | Clubfoot | 2 | + + | |
101 | Dwarfism | 2 | + + | |
102 | Holoprosencephaly | 2 | + + | |
103 | Cleft Lip | 2 | + + | |
104 | Genetic Diseases, X-Linked | 2 | + + | |
105 | Micrognathism | 2 | + + | |
106 | Preleukemia | 2 | + + | |
107 | Ureterocele | 2 | + + | |
108 | Meningomyelocele | 2 | + + | |
109 | Rectal Diseases | 2 | + + | |
110 | Leukemia, Myelomonocytic, Acute | 2 | + + | |
111 | Leukemia, Monocytic, Acute | 2 | + + | |
112 | Ileal Diseases | 2 | + + | |
113 | Failure to Thrive | 2 | + + | |
114 | Gonadal Dysgenesis, 46,XY | 2 | + + | |
115 | Motor Skills Disorders | 2 | + + | |
116 | Primary Ovarian Insufficiency | 2 | + + | |
117 | Retinoblastoma | 2 | + + | |
118 | Leukemia, Erythroblastic, Acute | 1 | + + | |
119 | Syndactyly | 1 | + + | |
120 | Obesity | 1 | + + | |
121 | Blast Crisis | 1 | + + | |
122 | Gonadal Dysgenesis, Mixed | 1 | + + | |
123 | Recurrence | 1 | + + | |
124 | Intestinal Diseases | 1 | + + | |
125 | Muscle Hypertonia | 1 | + + | |
126 | Seizures | 1 | + + | |
127 | Maxillofacial Abnormalities | 1 | + + | |
128 | Hernia, Umbilical | 1 | + + | |
129 | Noonan Syndrome | 1 | + + | |
130 | Ataxia Telangiectasia | 1 | + + | |
131 | Cell Transformation, Neoplastic | 1 | + + | |
132 | Respiratory System Abnormalities | 1 | + + | |
133 | Hydronephrosis | 1 | + + | |
134 | Myeloproliferative Disorders | 1 | + + | |
135 | Burkitt Lymphoma | 1 | + + | |
136 | Hypogonadism | 1 | + + | |
137 | Dandy-Walker Syndrome | 1 | + + | |
138 | Williams Syndrome | 1 | + + | |
139 | Lower Extremity Deformities, Congenital | 1 | + + | |
140 | Child Behavior Disorders | 1 | + + | |
141 | Hereditary Sensory and Motor Neuropathy | 1 | + + | |
142 | Disease Progression | 1 | + + | |
143 | Mouth Abnormalities | 1 | + + | |
144 | Genomic Instability | 1 | + + | |
145 | Muscular Dystrophies | 1 | + + | |
146 | Fetal Death | 1 | + + | |
147 | Anemia, Refractory, with Excess of Blasts | 1 | + + | |
148 | Wilms Tumor | 1 | + + | |
149 | Mesenteric Cyst | 1 | + + | |
150 | Micronuclei, Chromosome-Defective | 1 | + + | |
151 | Disease Models, Animal | 1 | + + | |
152 | Esophageal Diseases | 1 | + + | |
153 | Craniofacial Dysostosis | 1 | + + | |
154 | Acute Disease | 1 | + + | |
155 | Arthrogryposis | 1 | + + | |
156 | Spinal Dysraphism | 1 | + + | |
157 | Colonic Diseases | 1 | + + | |
158 | Abnormalities, Severe Teratoid | 1 | + + | |
159 | Pancreatitis | 1 | + + | |
160 | Mediastinal Cyst | 1 | + + | |
161 | Leukemia, Myelomonocytic, Chronic | 1 | + + | |
162 | Melena | 1 | + + | |
163 | Language Disorders | 1 | + + | |
164 | Nervous System Malformations | 1 | + + | |
165 | Hyperkinesis | 1 | + + | |
166 | Gastrointestinal Hemorrhage | 1 | + + | |
167 | Epilepsy, Generalized | 1 | + + | |
168 | Pigmentation Disorders | 1 | + + | |
169 | Sotos Syndrome | 1 | + + | |
170 | Gonadal Dysgenesis, 46,XX | 1 | + + | |
171 | Spasms, Infantile | 1 | + + | |
172 | Neuroblastoma | 1 | + + | |
173 | Tongue Diseases | 1 | + + | |
174 | Duane Retraction Syndrome | 1 | + + | |
175 | Intestinal Obstruction | 1 | + + | |
176 | Abdominal Pain | 1 | + + | |
177 | Gonadoblastoma | 1 | + + | |
178 | Microphthalmos | 1 | + + | |
179 | Intussusception | 1 | + + | |
180 | Rectal Prolapse | 1 | + + | |
181 | Kidney Neoplasms | 1 | + + | |
182 | Pancreatic Cyst | 1 | + + | |
183 | Cryptorchidism | 1 | + + | |
184 | CHARGE Syndrome | 1 | + + | |
185 | Musculoskeletal Abnormalities | 1 | + + | |
186 | Rare Diseases | 1 | + + | |
187 | Rubinstein-Taybi Syndrome | 1 | + + | |
188 | Scoliosis | 1 | + + | |
189 | Infertility | 1 | + + | |
190 | Tetralogy of Fallot | 1 | + + | |
191 | Neoplasms, Adipose Tissue | 1 | + + | |
192 | Urinary Incontinence | 1 | + + | |
193 | Dysgerminoma | 1 | + + | |
194 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 1 | + + | |
195 | Hearing Loss | 1 | + + | |
196 | Hernia, Diaphragmatic | 1 | + + | |
197 | Birth Weight | 1 | + + | |
198 | Immunologic Deficiency Syndromes | 1 | + + | |
199 | Adenocarcinoma | 1 | + + | |
200 | Genetic Diseases, Inborn | 1 | + + | |
201 | Body Dysmorphic Disorders | 1 | + + | |
202 | Rectovaginal Fistula | 1 | + + | |
203 | Jacobsen Distal 11q Deletion Syndrome | 1 | + + | |
204 | Vomiting | 1 | + + | |
205 | Asthenozoospermia | 1 | + + | |
206 | Cecal Diseases | 1 | + + | |
207 | Deafness | 1 | + + | |
208 | Neural Tube Defects | 1 | + + | |
209 | Urethral Diseases | 1 | + + | |
210 | Leukemia, Promyelocytic, Acute | 1 | + + | |
211 | Blepharoptosis | 1 | + + | |
212 | Rectal Fistula | 1 | + + | |
213 | Puberty, Delayed | 1 | + + | |
214 | Primary Myelofibrosis | 1 | + + | |
215 | Single Umbilical Artery | 1 | + + | |
216 | Aniridia | 1 | + + | |
217 | 46, XX Disorders of Sex Development | 1 | + + | |
218 | Hematologic Diseases | 1 | + + | |