| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Sex Chromosome Aberrations | 100 | + + | |
2 | Chromosome Aberrations | 83 | + + | |
3 | Chromosome Deletion | 63 | + + | |
4 | Chromosome Disorders | 52 | + + | |
5 | Ring Chromosomes | 47 | + + | |
6 | Oligospermia | 46 | + + | |
7 | Turner Syndrome | 38 | + + | |
8 | Chromosome Inversion | 35 | + + | |
9 | Sex Chromosome Disorders of Sex Development | 33 | + + | |
10 | Azoospermia | 31 | + + | |
11 | Gonadal Dysgenesis, 46,XY | 28 | + + | |
12 | Translocation, Genetic | 28 | + + | |
13 | Gonadal Dysgenesis, Mixed | 26 | + + | |
14 | Infertility, Male | 26 | + + | |
15 | XYY Karyotype | 26 | + + | |
16 | Sex Chromosome Disorders | 25 | + + | |
17 | Gonadoblastoma | 25 | + + | |
18 | Gonadal Dysgenesis | 24 | + + | |
19 | Disorders of Sex Development | 22 | + + | |
20 | Chromosome Breakage | 21 | + + | |
21 | Aneuploidy | 20 | + + | |
22 | Dysgerminoma | 17 | + + | |
23 | Abnormalities, Multiple | 17 | + + | |
24 | Intellectual Disability | 16 | + + | |
25 | Trisomy | 16 | + + | |
26 | Genetic Diseases, Y-Linked | 12 | + + | |
27 | Hypospadias | 11 | + + | |
28 | Growth Disorders | 11 | + + | |
29 | Philadelphia Chromosome | 10 | + + | |
30 | Chromosome Duplication | 10 | + + | |
31 | Polyploidy | 10 | + + | |
32 | Syndrome | 10 | + + | |
33 | Developmental Disabilities | 10 | + + | |
34 | Chromosome Fragility | 10 | + + | |
35 | Klinefelter Syndrome | 10 | + + | |
36 | Gonadal Dysgenesis, 46,XX | 10 | + + | |
37 | Urogenital Neoplasms | 9 | + + | |
38 | Isochromosomes | 9 | + + | |
39 | Ovotesticular Disorders of Sex Development | 9 | + + | |
40 | Abnormal Karyotype | 9 | + + | |
41 | Noonan Syndrome | 8 | + + | |
42 | Amenorrhea | 8 | + + | |
43 | Chromosomal Instability | 8 | + + | |
44 | Leukemia, Myeloid | 8 | + + | |
45 | Monosomy | 8 | + + | |
46 | Hypogonadism | 7 | + + | |
47 | Leukemia, Myeloid, Acute | 7 | + + | |
48 | Uniparental Disomy | 7 | + + | |
49 | Ovarian Neoplasms | 6 | + + | |
50 | Cryptorchidism | 6 | + + | |
51 | Down Syndrome | 6 | + + | |
52 | Psychomotor Disorders | 5 | + + | |
53 | Prader-Willi Syndrome | 5 | + + | |
54 | Cell Transformation, Viral | 5 | + + | |
55 | Language Development Disorders | 5 | + + | |
56 | Nondisjunction, Genetic | 5 | + + | |
57 | Genetic Predisposition to Disease | 5 | + + | |
58 | Gynecomastia | 4 | + + | |
59 | Dwarfism | 4 | + + | |
60 | Microcephaly | 4 | + + | |
61 | Craniofacial Abnormalities | 4 | + + | |
62 | 46, XX Testicular Disorders of Sex Development | 4 | + + | |
63 | Abortion, Habitual | 4 | + + | |
64 | Muscle Hypotonia | 3 | + + | |
65 | Facies | 3 | + + | |
66 | Leukemia, Myelogenous, Chronic, BCR-ABL Positive | 3 | + + | |
67 | Virilism | 3 | + + | |
68 | Fetal Growth Retardation | 3 | + + | |
69 | Autistic Disorder | 3 | + + | |
70 | Abortion, Spontaneous | 3 | + + | |
71 | Myelodysplastic Syndromes | 3 | + + | |
72 | DiGeorge Syndrome | 3 | + + | |
73 | Leukemia, Lymphoid | 2 | + + | |
74 | Congenital Abnormalities | 2 | + + | |
75 | Angelman Syndrome | 2 | + + | |
76 | Heart Defects, Congenital | 2 | + + | |
77 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | 2 | + + | |
78 | Leukemia | 2 | + + | |
79 | Preleukemia | 2 | + + | |
80 | Cleft Palate | 2 | + + | |
81 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | 2 | + + | |
82 | Hypertelorism | 2 | + + | |
83 | Tetrasomy | 2 | + + | |
84 | Cri-du-Chat Syndrome | 2 | + + | |
85 | Diseases in Twins | 2 | + + | |
86 | Retinoblastoma | 2 | + + | |
87 | Leukemia, Erythroblastic, Acute | 2 | + + | |
88 | Coloboma | 2 | + + | |
89 | Blast Crisis | 2 | + + | |
90 | Leukemia, Myelomonocytic, Acute | 2 | + + | |
91 | Eye Abnormalities | 2 | + + | |
92 | Leukemia, Monocytic, Acute | 2 | + + | |
93 | Hand Deformities, Congenital | 2 | + + | |
94 | Beckwith-Wiedemann Syndrome | 2 | + + | |
95 | Ataxia Telangiectasia | 2 | + + | |
96 | Holoprosencephaly | 1 | + + | |
97 | Learning Disorders | 1 | + + | |
98 | Myeloproliferative Disorders | 1 | + + | |
99 | Foot Deformities, Congenital | 1 | + + | |
100 | Anemia, Refractory, with Excess of Blasts | 1 | + + | |
101 | Fetal Diseases | 1 | + + | |
102 | Agenesis of Corpus Callosum | 1 | + + | |
103 | Micronuclei, Chromosome-Defective | 1 | + + | |
104 | Speech Disorders | 1 | + + | |
105 | Epilepsy | 1 | + + | |
106 | Anus, Imperforate | 1 | + + | |
107 | Primary Ovarian Insufficiency | 1 | + + | |
108 | Silver-Russell Syndrome | 1 | + + | |
109 | Mental Retardation, X-Linked | 1 | + + | |
110 | Limb Deformities, Congenital | 1 | + + | |
111 | Pigmentation Disorders | 1 | + + | |
112 | Burkitt Lymphoma | 1 | + + | |
113 | Infertility | 1 | + + | |
114 | Microphthalmos | 1 | + + | |
115 | Cell Transformation, Neoplastic | 1 | + + | |
116 | Failure to Thrive | 1 | + + | |
117 | Micrognathism | 1 | + + | |
118 | Cleft Lip | 1 | + + | |
119 | Muscular Dystrophies | 1 | + + | |
120 | Wilms Tumor | 1 | + + | |
121 | Fetal Death | 1 | + + | |
122 | Genetic Diseases, Inborn | 1 | + + | |
123 | Neoplasms, Adipose Tissue | 1 | + + | |
124 | Clubfoot | 1 | + + | |
125 | Immunologic Deficiency Syndromes | 1 | + + | |
126 | Disease Progression | 1 | + + | |
127 | Body Dysmorphic Disorders | 1 | + + | |
128 | Jacobsen Distal 11q Deletion Syndrome | 1 | + + | |
129 | Seizures | 1 | + + | |
130 | Leukemia, Myelomonocytic, Chronic | 1 | + + | |
131 | Genetic Diseases, X-Linked | 1 | + + | |
132 | Kidney Neoplasms | 1 | + + | |
133 | Charcot-Marie-Tooth Disease | 1 | + + | |
134 | Craniosynostoses | 1 | + + | |
135 | Leukemia, Promyelocytic, Acute | 1 | + + | |
136 | Syndactyly | 1 | + + | |
137 | Primary Myelofibrosis | 1 | + + | |
138 | Aniridia | 1 | + + | |
139 | Obesity | 1 | + + | |
140 | Hematologic Diseases | 1 | + + | |
141 | Wolf-Hirschhorn Syndrome | 1 | + + | |
142 | Craniofacial Dysostosis | 1 | + + | |
143 | Blepharophimosis | 1 | + + | |
144 | Acute Disease | 1 | + + | |
145 | Polydactyly | 1 | + + | |
146 | Fanconi Anemia | 1 | + + | |
147 | Dandy-Walker Syndrome | 1 | + + | |
148 | Anemia, Refractory | 1 | + + | |
149 | Language Disorders | 1 | + + | |
150 | Neuroblastoma | 1 | + + | |
151 | Leukemia, Myeloid, Chronic-Phase | 1 | + + | |
152 | Leukemia, B-Cell | 1 | + + | |
153 | Eye Neoplasms | 1 | + + | |
154 | Skin Abnormalities | 1 | + + | |
155 | Rett Syndrome | 1 | + + | |
156 | Thrombocythemia, Essential | 1 | + + | |
157 | Williams Syndrome | 1 | + + | |
158 | Anemia, Sideroblastic | 1 | + + | |
159 | Leukemia, Lymphocytic, Chronic, B-Cell | 1 | + + | |
160 | Muscle Hypertonia | 1 | + + | |