| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Genetic Diseases, Inborn | 100 | + + | |
2 | Genetic Diseases, X-Linked | 93 | + + | |
3 | Genetic Diseases, Y-Linked | 41 | + + | |
4 | Cystic Fibrosis | 21 | + + | |
5 | Abnormalities, Radiation-Induced | 17 | + + | |
6 | Ichthyosis, X-Linked | 14 | + + | |
7 | Mental Retardation, X-Linked | 13 | + + | |
8 | Werner Syndrome | 12 | + + | |
9 | Syndrome | 12 | + + | |
10 | Genetic Predisposition to Disease | 10 | + + | |
11 | Intellectual Disability | 10 | + + | |
12 | Hemochromatosis | 8 | + + | |
13 | Neurofibromatosis 1 | 7 | + + | |
14 | Agammaglobulinemia | 7 | + + | |
15 | Abnormalities, Multiple | 6 | + + | |
16 | X-Linked Combined Immunodeficiency Diseases | 6 | + + | |
17 | Adrenoleukodystrophy | 5 | + + | |
18 | Granulomatous Disease, Chronic | 4 | + + | |
19 | Sex Chromosome Aberrations | 4 | + + | |
20 | Chondrodysplasia Punctata | 3 | + + | |
21 | Retinoschisis | 3 | + + | |
22 | Myopathies, Structural, Congenital | 2 | + + | |
23 | Albinism, Ocular | 2 | + + | |
24 | Muscular Atrophy, Spinal | 2 | + + | |
25 | Ichthyosis | 2 | + + | |
26 | Kallmann Syndrome | 2 | + + | |
27 | Muscular Dystrophy, Emery-Dreifuss | 2 | + + | |
28 | Ectodermal Dysplasia 1, Anhidrotic | 2 | + + | |
29 | Hypophosphatemia, Familial | 2 | + + | |
30 | Fabry Disease | 2 | + + | |
31 | Severe Combined Immunodeficiency | 1 | + + | |
32 | Incontinentia Pigmenti | 1 | + + | |
33 | Rett Syndrome | 1 | + + | |
34 | Charcot-Marie-Tooth Disease | 1 | + + | |
35 | Lymphoproliferative Disorders | 1 | + + | |
36 | Hypogonadism | 1 | + + | |
37 | Ectodermal Dysplasia | 1 | + + | |
38 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | 1 | + + | |
39 | Immunologic Deficiency Syndromes | 1 | + + | |
40 | Retinitis Pigmentosa | 1 | + + | |
41 | Oculocerebrorenal Syndrome | 1 | + + | |
42 | Familial Hypophosphatemic Rickets | 1 | + + | |
43 | Anemia, Sideroblastic | 1 | + + | |
44 | Muscle Hypotonia | 1 | + + | |
45 | Deafness | 1 | + + | |
46 | Muscular Dystrophies | 1 | + + | |
47 | Nephritis, Hereditary | 1 | + + | |
48 | Hypergammaglobulinemia | 1 | + + | |
49 | Hypospadias | 1 | + + | |
50 | Diffuse Cerebral Sclerosis of Schilder | 1 | + + | |
51 | Mucopolysaccharidosis II | 1 | + + | |
52 | Microphthalmos | 1 | + + | |
53 | Adrenal Insufficiency | 1 | + + | |
54 | Hypohidrosis | 1 | + + | |
55 | Coffin-Lowry Syndrome | 1 | + + | |
56 | Hypertelorism | 1 | + + | |
57 | Microcephaly | 1 | + + | |
58 | Focal Dermal Hypoplasia | 1 | + + | |
59 | Hydrocephalus | 1 | + + | |
60 | Nystagmus, Congenital | 1 | + + | |
61 | Agenesis of Corpus Callosum | 1 | + + | |
62 | Muscular Dystrophy, Duchenne | 1 | + + | |
63 | Photophobia | 1 | + + | |
64 | Facies | 1 | + + | |
65 | Growth Disorders | 1 | + + | |
66 | Muscular Diseases | 1 | + + | |
67 | Infectious Mononucleosis | 1 | + + | |
68 | Choroideremia | 1 | + + | |
69 | Glycogen Storage Disease Type IIb | 1 | + + | |
70 | Ornithine Carbamoyltransferase Deficiency Disease | 1 | + + | |
71 | Tooth Abnormalities | 1 | + + | |
72 | Lesch-Nyhan Syndrome | 1 | + + | |