| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Chromosome Aberrations | 100 | + + | |
2 | Sex Chromosome Aberrations | 96 | + + | |
3 | Chromosome Deletion | 72 | + + | |
4 | Ring Chromosomes | 67 | + + | |
5 | Chromosome Disorders | 66 | + + | |
6 | Chromosome Inversion | 47 | + + | |
7 | Turner Syndrome | 40 | + + | |
8 | Translocation, Genetic | 35 | + + | |
9 | Intellectual Disability | 33 | + + | |
10 | Chromosome Breakage | 28 | + + | |
11 | Sex Chromosome Disorders | 27 | + + | |
12 | Abnormalities, Multiple | 27 | + + | |
13 | Trisomy | 21 | + + | |
14 | Aneuploidy | 20 | + + | |
15 | Chromosome Fragility | 19 | + + | |
16 | Gonadal Dysgenesis | 17 | + + | |
17 | Fragile X Syndrome | 16 | + + | |
18 | Syndrome | 16 | + + | |
19 | Amenorrhea | 16 | + + | |
20 | Klinefelter Syndrome | 16 | + + | |
21 | Growth Disorders | 16 | + + | |
22 | Mental Retardation, X-Linked | 15 | + + | |
23 | Nondisjunction, Genetic | 15 | + + | |
24 | Developmental Disabilities | 15 | + + | |
25 | Chromosome Duplication | 14 | + + | |
26 | Philadelphia Chromosome | 14 | + + | |
27 | Genetic Diseases, X-Linked | 12 | + + | |
28 | Psychomotor Disorders | 12 | + + | |
29 | Primary Ovarian Insufficiency | 12 | + + | |
30 | Polyploidy | 12 | + + | |
31 | Uniparental Disomy | 11 | + + | |
32 | Monosomy | 11 | + + | |
33 | Choroideremia | 11 | + + | |
34 | Gonadal Dysgenesis, 46,XX | 11 | + + | |
35 | Muscular Dystrophies | 11 | + + | |
36 | Muscle Hypotonia | 10 | + + | |
37 | Disorders of Sex Development | 10 | + + | |
38 | Sex Chromosome Disorders of Sex Development | 10 | + + | |
39 | Mucopolysaccharidosis II | 9 | + + | |
40 | Prader-Willi Syndrome | 9 | + + | |
41 | Craniofacial Abnormalities | 9 | + + | |
42 | Isochromosomes | 9 | + + | |
43 | Oligospermia | 8 | + + | |
44 | Diseases in Twins | 8 | + + | |
45 | Infertility, Male | 8 | + + | |
46 | Microcephaly | 8 | + + | |
47 | Autistic Disorder | 8 | + + | |
48 | Down Syndrome | 8 | + + | |
49 | Azoospermia | 7 | + + | |
50 | Facies | 7 | + + | |
51 | Microphthalmos | 7 | + + | |
52 | Hypogonadism | 6 | + + | |
53 | Dwarfism | 6 | + + | |
54 | Rett Syndrome | 6 | + + | |
55 | Chondrodysplasia Punctata | 6 | + + | |
56 | Fetal Growth Retardation | 6 | + + | |
57 | Leukemia, Myeloid | 6 | + + | |
58 | Genetic Predisposition to Disease | 6 | + + | |
59 | Tetrasomy | 6 | + + | |
60 | Abortion, Spontaneous | 6 | + + | |
61 | Preleukemia | 6 | + + | |
62 | Menopause, Premature | 6 | + + | |
63 | Wiskott-Aldrich Syndrome | 5 | + + | |
64 | Skin Abnormalities | 5 | + + | |
65 | XYY Karyotype | 5 | + + | |
66 | Leukemia, Myeloid, Acute | 5 | + + | |
67 | Abortion, Habitual | 5 | + + | |
68 | Pelizaeus-Merzbacher Disease | 5 | + + | |
69 | Ichthyosis | 5 | + + | |
70 | Leukemia | 5 | + + | |
71 | Leukemia, Myelogenous, Chronic, BCR-ABL Positive | 4 | + + | |
72 | Ichthyosis, X-Linked | 4 | + + | |
73 | Pigmentation Disorders | 4 | + + | |
74 | Cleft Palate | 4 | + + | |
75 | Lesch-Nyhan Syndrome | 4 | + + | |
76 | Beckwith-Wiedemann Syndrome | 4 | + + | |
77 | 46, XX Testicular Disorders of Sex Development | 4 | + + | |
78 | Chromosomal Instability | 4 | + + | |
79 | Fetal Diseases | 4 | + + | |
80 | Limb Deformities, Congenital | 4 | + + | |
81 | Anemia, Sideroblastic | 4 | + + | |
82 | Disease | 4 | + + | |
83 | Myelodysplastic Syndromes | 4 | + + | |
84 | Agenesis of Corpus Callosum | 4 | + + | |
85 | Laryngomalacia | 4 | + + | |
86 | Granulomatous Disease, Chronic | 4 | + + | |
87 | DiGeorge Syndrome | 4 | + + | |
88 | Hemophilia A | 4 | + + | |
89 | Leukemia, Lymphoid | 4 | + + | |
90 | Hemophilia B | 3 | + + | |
91 | Congenital Abnormalities | 3 | + + | |
92 | Focal Dermal Hypoplasia | 3 | + + | |
93 | Angelman Syndrome | 3 | + + | |
94 | Noonan Syndrome | 3 | + + | |
95 | Heart Defects, Congenital | 3 | + + | |
96 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | 3 | + + | |
97 | Abnormal Karyotype | 3 | + + | |
98 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | 3 | + + | |
99 | Gonadal Dysgenesis, Mixed | 3 | + + | |
100 | Hypertelorism | 3 | + + | |
101 | Incontinentia Pigmenti | 3 | + + | |
102 | Adrenal Insufficiency | 3 | + + | |
103 | Cri-du-Chat Syndrome | 3 | + + | |
104 | Kallmann Syndrome | 3 | + + | |
105 | Retinoblastoma | 3 | + + | |
106 | Menkes Kinky Hair Syndrome | 3 | + + | |
107 | Leukemia, Erythroblastic, Acute | 3 | + + | |
108 | Coloboma | 2 | + + | |
109 | Blast Crisis | 2 | + + | |
110 | Eye Abnormalities | 2 | + + | |
111 | Leukemia, Myelomonocytic, Acute | 2 | + + | |
112 | Seizures | 2 | + + | |
113 | Osteochondrodysplasias | 2 | + + | |
114 | Leukemia, Monocytic, Acute | 2 | + + | |
115 | Gynecomastia | 2 | + + | |
116 | Agammaglobulinemia | 2 | + + | |
117 | Nephritis, Hereditary | 2 | + + | |
118 | Factor X Deficiency | 2 | + + | |
119 | Hand Deformities, Congenital | 2 | + + | |
120 | Language Development Disorders | 2 | + + | |
121 | Hypospadias | 2 | + + | |
122 | Primary Myelofibrosis | 2 | + + | |
123 | Ataxia Telangiectasia | 2 | + + | |
124 | Tooth Abnormalities | 2 | + + | |
125 | Learning Disorders | 2 | + + | |
126 | Holoprosencephaly | 2 | + + | |
127 | Myeloproliferative Disorders | 2 | + + | |
128 | Foot Deformities, Congenital | 2 | + + | |
129 | Gonadal Dysgenesis, 46,XY | 2 | + + | |
130 | Mucopolysaccharidosis I | 2 | + + | |
131 | Mental Disorders | 2 | + + | |
132 | Diffuse Cerebral Sclerosis of Schilder | 2 | + + | |
133 | Anemia, Refractory, with Excess of Blasts | 2 | + + | |
134 | Androgen-Insensitivity Syndrome | 2 | + + | |
135 | Micronuclei, Chromosome-Defective | 2 | + + | |
136 | Ectodermal Dysplasia | 2 | + + | |
137 | Speech Disorders | 2 | + + | |
138 | Epilepsy | 2 | + + | |
139 | Pyruvate Dehydrogenase Complex Deficiency Disease | 2 | + + | |
140 | Ornithine Carbamoyltransferase Deficiency Disease | 2 | + + | |
141 | Silver-Russell Syndrome | 2 | + + | |
142 | Anus, Imperforate | 2 | + + | |
143 | Burkitt Lymphoma | 2 | + + | |
144 | Cell Transformation, Neoplastic | 2 | + + | |
145 | Gonadoblastoma | 2 | + + | |
146 | Micrognathism | 1 | + + | |
147 | Failure to Thrive | 1 | + + | |
148 | Cleft Lip | 1 | + + | |
149 | Wilms Tumor | 1 | + + | |
150 | Infertility | 1 | + + | |
151 | Dysgerminoma | 1 | + + | |
152 | Fetal Death | 1 | + + | |
153 | Neoplasms, Adipose Tissue | 1 | + + | |
154 | Clubfoot | 1 | + + | |
155 | Immunologic Deficiency Syndromes | 1 | + + | |
156 | Genetic Diseases, Inborn | 1 | + + | |
157 | Leukemia, Myelomonocytic, Chronic | 1 | + + | |
158 | Body Dysmorphic Disorders | 1 | + + | |
159 | Charcot-Marie-Tooth Disease | 1 | + + | |
160 | Jacobsen Distal 11q Deletion Syndrome | 1 | + + | |
161 | Disease Progression | 1 | + + | |
162 | Kidney Neoplasms | 1 | + + | |
163 | Syndactyly | 1 | + + | |
164 | Leukemia, Promyelocytic, Acute | 1 | + + | |
165 | Craniosynostoses | 1 | + + | |
166 | Obesity | 1 | + + | |
167 | Hematologic Diseases | 1 | + + | |
168 | Aniridia | 1 | + + | |
169 | Wolf-Hirschhorn Syndrome | 1 | + + | |
170 | Craniofacial Dysostosis | 1 | + + | |
171 | Blepharophimosis | 1 | + + | |
172 | Polydactyly | 1 | + + | |
173 | Fanconi Anemia | 1 | + + | |
174 | Dandy-Walker Syndrome | 1 | + + | |
175 | Acute Disease | 1 | + + | |
176 | Language Disorders | 1 | + + | |
177 | Neuroblastoma | 1 | + + | |
178 | Anemia, Refractory | 1 | + + | |
179 | Leukemia, B-Cell | 1 | + + | |
180 | Leukemia, Myeloid, Chronic-Phase | 1 | + + | |
181 | Thrombocythemia, Essential | 1 | + + | |
182 | Eye Neoplasms | 1 | + + | |
183 | Thrombocytosis | 1 | + + | |
184 | Williams Syndrome | 1 | + + | |
185 | Child Behavior Disorders | 1 | + + | |
186 | Muscle Hypertonia | 1 | + + | |
187 | Cryptorchidism | 1 | + + | |
188 | Neoplasms, Second Primary | 1 | + + | |
189 | Neoplasms, Experimental | 1 | + + | |
190 | Leukemia, Lymphocytic, Chronic, B-Cell | 1 | + + | |
191 | Motor Skills Disorders | 1 | + + | |
192 | Dermatofibrosarcoma | 1 | + + | |
193 | Polycythemia Vera | 1 | + + | |
194 | Deafness | 1 | + + | |
195 | Nervous System Malformations | 1 | + + | |
196 | Ovotesticular Disorders of Sex Development | 1 | + + | |
197 | Brain Neoplasms | 1 | + + | |
198 | Child Development Disorders, Pervasive | 1 | + + | |
199 | Leukemia, Megakaryoblastic, Acute | 1 | + + | |
200 | Thalassemia | 1 | + + | |
201 | Skin Neoplasms | 1 | + + | |
202 | Cell Transformation, Viral | 1 | + + | |
203 | Ovarian Neoplasms | 1 | + + | |
204 | Maxillofacial Abnormalities | 1 | + + | |
205 | Lymphoma, Non-Hodgkin | 1 | + + | |
206 | Leukemia, Neutrophilic, Chronic | 1 | + + | |
207 | Neoplasms | 1 | + + | |
208 | Eosinophilia | 1 | + + | |
209 | Disease Models, Animal | 1 | + + | |
210 | Neoplasms, Multiple Primary | 1 | + + | |
211 | Epilepsy, Generalized | 1 | + + | |
212 | Uterine Neoplasms | 1 | + + | |
213 | Cerebellar Ataxia | 1 | + + | |
214 | Pancytopenia | 1 | + + | |
215 | Cataract | 1 | + + | |
216 | Acute Radiation Syndrome | 1 | + + | |
217 | Genetic Diseases, Y-Linked | 1 | + + | |
218 | Soft Tissue Neoplasms | 1 | + + | |
219 | Spasms, Infantile | 1 | + + | |
220 | Acrocallosal Syndrome | 1 | + + | |
221 | Blepharoptosis | 1 | + + | |
222 | Recurrence | 1 | + + | |
223 | Tetralogy of Fallot | 1 | + + | |
224 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 1 | + + | |
225 | Olfaction Disorders | 1 | + + | |
226 | Birth Weight | 1 | + + | |
227 | Hematologic Neoplasms | 1 | + + | |
228 | Urogenital Abnormalities | 1 | + + | |