| Sjukdomar | Betyg | Bibliogr. | Expandera |
---|
1 | | 100 | + | |
2 | | 46 | + | |
3 | | 41 | + | |
4 | Cystisk fibros | 21 | + | |
5 | Missbildningar, strålningsframkallade | 17 | + | |
6 | Iktyos, X-bunden | 14 | + | |
7 | Psykisk utvecklingsstörning, X-bunden | 13 | + | |
8 | Werners syndrom | 12 | + | |
9 | Syndrom | 12 | + | |
10 | Genetiska sjukdomsanlag | 10 | + | |
11 | Intellectual Disability | 10 | + | |
12 | Bronsdiabetes | 8 | + | |
13 | Neurofibromatos 1 | 7 | + | |
14 | Gammaglobulinbrist | 7 | + | |
15 | Missbildningar, multipla | 6 | + | |
16 | X-Linked Combined Immunodeficiency Diseases | 6 | + | |
17 | Adrenoleukodystrofi | 5 | + | |
18 | Granulomatös sjukdom, kronisk | 4 | + | |
19 | Könskromosomavvikelser | 4 | + | |
20 | Chondodysplasia punctata | 3 | + | |
21 | Retinoschis | 3 | + | |
22 | Myopatier, strukturella, medfödda | 2 | + | |
23 | Albinism, okulär | 2 | + | |
24 | Muskelatrofi, spinal | 2 | + | |
25 | Fiskfjällshud | 2 | + | |
26 | Kallmanns syndrom | 2 | + | |
27 | Muskeldystrofi, Emery-Dreifuss | 2 | + | |
28 | Ektodermal dysplasi 1, anhidrotisk | 2 | + | |
29 | Hypofosfatemi, familjär | 2 | + | |
30 | Fabrys sjukdom | 2 | + | |
31 | Svår kombinerad immunbrist | 1 | + | |
32 | Incontinentia pigmenti | 1 | + | |
33 | Retts syndrom | 1 | + | |
34 | Charcot-Marie-Tooths sjukdom | 1 | + | |
35 | Lymfoproliferativa sjukdomar | 1 | + | |
36 | Hypogonadism | 1 | + | |
37 | Ektodermal dysplasi | 1 | + | |
38 | Hyper-IgM syndrom, typ 1 | 1 | + | |
39 | Immunbristsyndrom | 1 | + | |
40 | Retinitis pigmentosa | 1 | + | |
41 | Okulocerebrorenalt syndrom | 1 | + | |
42 | Familial Hypophosphatemic Rickets | 1 | + | |
43 | Anemi, sideroblastisk | 1 | + | |
44 | Muskelhypotoni | 1 | + | |
45 | Dövhet | 1 | + | |
46 | Muskeldystrofier | 1 | + | |
47 | Nefrit, ärftlig | 1 | + | |
48 | Hypergammaglobulinemi | 1 | + | |
49 | Hypospadi | 1 | + | |
50 | Schilders diffusa cerebrala skleros | 1 | + | |
51 | Mukopolysackaridos II | 1 | + | |
52 | Mikroftalmi | 1 | + | |
53 | Binjurehypofunktion | 1 | + | |
54 | Hypohidros | 1 | + | |
55 | Coffin-Lowrys syndrom | 1 | + | |
56 | Hypertelorism | 1 | + | |
57 | Mikrocefali | 1 | + | |
58 | Fokal hudhypoplasi | 1 | + | |
59 | Vattenskalle | 1 | + | |
60 | Nystagmus, medfödd | 1 | + | |
61 | Agenesis of Corpus Callosum | 1 | + | |
62 | Muskeldystrofi, Duchenne | 1 | + | |
63 | Ljuskänslighet | 1 | + | |
64 | Utseende hos de sjuka | 1 | + | |
65 | Tillväxtstörningar | 1 | + | |
66 | Muskelsjukdomar | 1 | + | |
67 | Körtelfeber | 1 | + | |
68 | Koroideremi | 1 | + | |
69 | Glykogenupplagringssjukdom typ IIb | 1 | + | |
70 | Ornitinkarbamoyltransferasbristsjukdom | 1 | + | |
71 | Tandmissbildningar | 1 | + | |
72 | Lesch-Nyhans syndrom | 1 | + | |