| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Mannosidase Deficiency Diseases | 100 | + + | |
2 | Deficiency Diseases | 51 | + + | |
3 | Multiple Sulfatase Deficiency Disease | 48 | + + | |
4 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 32 | + + | |
5 | Pyruvate Carboxylase Deficiency Disease | 22 | + + | |
6 | Vitamin B 12 Deficiency | 15 | + + | |
7 | Ornithine Carbamoyltransferase Deficiency Disease | 13 | + + | |
8 | Pyruvate Dehydrogenase Complex Deficiency Disease | 12 | + + | |
9 | alpha 1-Antitrypsin Deficiency | 11 | + + | |
10 | IgA Deficiency | 11 | + + | |
11 | Protein C Deficiency | 9 | + + | |
12 | Protein S Deficiency | 8 | + + | |
13 | Factor VII Deficiency | 7 | + + | |
14 | Immunologic Deficiency Syndromes | 7 | + + | |
15 | Vitamin A Deficiency | 7 | + + | |
16 | Metabolism, Inborn Errors | 6 | + + | |
17 | IgG Deficiency | 6 | + + | |
18 | Factor XI Deficiency | 6 | + + | |
19 | Vitamin D Deficiency | 6 | + + | |
20 | Factor X Deficiency | 6 | + + | |
21 | Folic Acid Deficiency | 6 | + + | |
22 | Antithrombin III Deficiency | 6 | + + | |
23 | Vitamin K Deficiency | 5 | + + | |
24 | Factor V Deficiency | 5 | + + | |
25 | Factor XIII Deficiency | 5 | + + | |
26 | Factor XII Deficiency | 5 | + + | |
27 | Thiamine Deficiency | 5 | + + | |
28 | Glucosephosphate Dehydrogenase Deficiency | 4 | + + | |
29 | Biotinidase Deficiency | 4 | + + | |
30 | Vitamin B Deficiency | 4 | + + | |
31 | Vitamin E Deficiency | 4 | + + | |
32 | Cytochrome-c Oxidase Deficiency | 4 | + + | |
33 | Adrenal Hyperplasia, Congenital | 4 | + + | |
34 | Dysgammaglobulinemia | 4 | + + | |
35 | Anemia, Iron-Deficiency | 3 | + + | |
36 | Lecithin Acyltransferase Deficiency | 3 | + + | |
37 | Protein Deficiency | 3 | + + | |
38 | Fructose-1,6-Diphosphatase Deficiency | 3 | + + | |
39 | Leukocyte-Adhesion Deficiency Syndrome | 3 | + + | |
40 | Vitamin B 6 Deficiency | 3 | + + | |
41 | Dihydropyrimidine Dehydrogenase Deficiency | 3 | + + | |
42 | Carbohydrate Metabolism, Inborn Errors | 2 | + + | |
43 | Lipid Metabolism, Inborn Errors | 2 | + + | |
44 | Ascorbic Acid Deficiency | 2 | + + | |
45 | Dwarfism, Pituitary | 2 | + + | |
46 | Purine-Pyrimidine Metabolism, Inborn Errors | 2 | + + | |
47 | Anemia, Hypochromic | 2 | + + | |
48 | Magnesium Deficiency | 2 | + + | |
49 | Brain Diseases, Metabolic | 2 | + + | |
50 | Metabolic Diseases | 2 | + + | |
51 | Growth Disorders | 2 | + + | |
52 | Acquired Immunodeficiency Syndrome | 2 | + + | |
53 | Phenylketonurias | 2 | + + | |
54 | Syndrome | 1 | + + | |
55 | Hypoprothrombinemias | 1 | + + | |
56 | Multiple Carboxylase Deficiency | 1 | + + | |
57 | Muscular Diseases | 1 | + + | |
58 | Hyperammonemia | 1 | + + | |
59 | Holocarboxylase Synthetase Deficiency | 1 | + + | |
60 | Muscle Hypotonia | 1 | + + | |
61 | Glycogen Storage Disease | 1 | + + | |
62 | Hyperargininemia | 1 | + + | |
63 | Genetic Predisposition to Disease | 1 | + + | |
64 | Mitochondrial Diseases | 1 | + + | |
65 | Malabsorption Syndromes | 1 | + + | |
66 | Genetic Diseases, Inborn | 1 | + + | |
67 | Severe Combined Immunodeficiency | 1 | + + | |
68 | Brain Diseases, Metabolic, Inborn | 1 | + + | |
69 | Anemia, Hemolytic | 1 | + + | |
70 | Anemia, Hemolytic, Congenital Nonspherocytic | 1 | + + | |
71 | Disease | 1 | + + | |
72 | Recurrence | 1 | + + | |
73 | Disorders of Sex Development | 1 | + + | |
74 | Acidosis, Lactic | 1 | + + | |
75 | Agammaglobulinemia | 1 | + + | |
76 | Hypopituitarism | 1 | + + | |
77 | Anemia, Hemolytic, Congenital | 1 | + + | |
78 | Anemia, Megaloblastic | 1 | + + | |
79 | Leigh Disease | 1 | + + | |
80 | Failure to Thrive | 1 | + + | |
81 | Lactose Intolerance | 1 | + + | |
82 | Anemia, Pernicious | 1 | + + | |
83 | Acidosis | 1 | + + | |
84 | Vitamin K Deficiency Bleeding | 1 | + + | |
85 | Myoglobinuria | 1 | + + | |
86 | Rickets | 1 | + + | |
87 | Pregnancy Complications, Hematologic | 1 | + + | |
88 | Thrombophlebitis | 1 | + + | |
89 | Hypolipoproteinemias | 1 | + + | |
90 | Adrenal Insufficiency | 1 | + + | |
91 | Homocystinuria | 1 | + + | |
92 | Nervous System Diseases | 1 | + + | |
93 | Glycogen Storage Disease Type VII | 1 | + + | |
94 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | 1 | + + | |
95 | Infant Nutrition Disorders | 1 | + + | |
96 | Anemia, Macrocytic | 1 | + + | |
97 | Angioedema | 1 | + + | |
98 | Mitochondrial Myopathies | 1 | + + | |
99 | Developmental Disabilities | 1 | + + | |
100 | Hyperlipoproteinemia Type I | 1 | + + | |
101 | Intellectual Disability | 1 | + + | |
102 | Metal Metabolism, Inborn Errors | 1 | + + | |
103 | Hypoglycemia | 1 | + + | |
104 | Lymphopenia | 1 | + + | |
105 | Disease Susceptibility | 1 | + + | |
106 | Psychomotor Disorders | 1 | + + | |
107 | Ketosis | 1 | + + | |
108 | Steroid Metabolism, Inborn Errors | 1 | + + | |
109 | Hemophilia A | 1 | + + | |
110 | Hemorrhagic Disorders | 1 | + + | |
111 | Ataxia | 1 | + + | |
112 | Hypogonadism | 1 | + + | |
113 | Thrombosis | 1 | + + | |
114 | Hypothyroidism | 1 | + + | |
115 | Coagulation Protein Disorders | 1 | + + | |
116 | Anemia | 1 | + + | |
117 | Thrombophilia | 1 | + + | |
118 | Hemophilia B | 1 | + + | |
119 | Neuromuscular Diseases | 1 | + + | |
120 | Lesch-Nyhan Syndrome | 1 | + + | |
121 | Infant, Newborn, Diseases | 1 | + + | |
122 | Hemolysis | 1 | + + | |
123 | Spherocytosis, Hereditary | 1 | + + | |
124 | Acrodermatitis | 1 | + + | |
125 | Riboflavin Deficiency | 1 | + + | |
126 | Xerophthalmia | 1 | + + | |
127 | Leukodystrophy, Metachromatic | 1 | + + | |
128 | Abnormalities, Multiple | 1 | + + | |
129 | Glycogen Storage Disease Type V | 1 | + + | |
130 | Respiratory Tract Infections | 1 | + + | |
131 | Infection | 1 | + + | |
132 | Hemorrhage | 1 | + + | |
133 | Avitaminosis | 1 | + + | |
134 | Glycogen Storage Disease Type II | 1 | + + | |
135 | Mevalonate Kinase Deficiency | 1 | + + | |
136 | Pregnancy Complications | 1 | + + | |