| Diseases | Rating | Bibliogr. | Expand |
---|
1 | Diabetes Mellitus | 100 | + + | |
2 | Fanconi Syndrome | 95 | + + | |
3 | Metabolism, Inborn Errors | 95 | + + | |
4 | Carbohydrate Metabolism, Inborn Errors | 94 | + + | |
5 | Amino Acid Metabolism, Inborn Errors | 44 | + + | |
6 | Lipid Metabolism, Inborn Errors | 20 | + + | |
7 | Purine-Pyrimidine Metabolism, Inborn Errors | 17 | + + | |
8 | Metal Metabolism, Inborn Errors | 14 | + + | |
9 | Homocystinuria | 11 | + + | |
10 | Refractive Errors | 10 | + + | |
11 | Steroid Metabolism, Inborn Errors | 10 | + + | |
12 | Fructose Intolerance | 8 | + + | |
13 | Brain Diseases, Metabolic, Inborn | 8 | + + | |
14 | Ornithine Carbamoyltransferase Deficiency Disease | 8 | + + | |
15 | Hyperammonemia | 8 | + + | |
16 | Acidosis | 7 | + + | |
17 | Metabolic Diseases | 7 | + + | |
18 | Congenital Disorders of Glycosylation | 7 | + + | |
19 | Failure to Thrive | 7 | + + | |
20 | Acidosis, Respiratory | 6 | + + | |
21 | Fructose Metabolism, Inborn Errors | 6 | + + | |
22 | Hypophosphatasia | 6 | + + | |
23 | Lesch-Nyhan Syndrome | 6 | + + | |
24 | Hypoglycemia | 6 | + + | |
25 | Psychomotor Disorders | 6 | + + | |
26 | Hyperargininemia | 5 | + + | |
27 | Smith-Lemli-Opitz Syndrome | 5 | + + | |
28 | Pyruvate Metabolism, Inborn Errors | 5 | + + | |
29 | Lipodystrophy | 5 | + + | |
30 | Hyperglycinemia, Nonketotic | 4 | + + | |
31 | Ketosis | 4 | + + | |
32 | Reye Syndrome | 4 | + + | |
33 | Hyperglycemia | 4 | + + | |
34 | Fabry Disease | 4 | + + | |
35 | Muscle Hypotonia | 4 | + + | |
36 | Calcium Metabolism Disorders | 4 | + + | |
37 | Diabetes Mellitus, Type 2 | 4 | + + | |
38 | Genetic Diseases, Inborn | 4 | + + | |
39 | Short Bowel Syndrome | 4 | + + | |
40 | Syndrome | 4 | + + | |
41 | Obesity | 4 | + + | |
42 | Lactose Intolerance | 4 | + + | |
43 | Renal Aminoacidurias | 4 | + + | |
44 | Phenylketonurias | 4 | + + | |
45 | Anemia, Megaloblastic | 3 | + + | |
46 | Brain Diseases, Metabolic | 3 | + + | |
47 | Tyrosinemias | 3 | + + | |
48 | Malabsorption Syndromes | 3 | + + | |
49 | Hyperhomocysteinemia | 3 | + + | |
50 | Maple Syrup Urine Disease | 3 | + + | |
51 | Citrullinemia | 3 | + + | |
52 | Agraphia | 3 | + + | |
53 | Acidosis, Lactic | 3 | + + | |
54 | Body Weight | 3 | + + | |
55 | Mucopolysaccharidosis I | 3 | + + | |
56 | Hyperinsulinism | 3 | + + | |
57 | Nutrition Disorders | 3 | + + | |
58 | Splenic Diseases | 3 | + + | |
59 | Hypokalemic Periodic Paralysis | 3 | + + | |
60 | Kwashiorkor | 3 | + + | |
61 | Holocarboxylase Synthetase Deficiency | 3 | + + | |
62 | Argininosuccinic Aciduria | 3 | + + | |
63 | Diseases in Twins | 3 | + + | |
64 | Intellectual Disability | 3 | + + | |
65 | Liver Diseases | 3 | + + | |
66 | Adenocarcinoma, Papillary | 3 | + + | |
67 | Seizures | 3 | + + | |
68 | Diabetes Complications | 3 | + + | |
69 | Insulin Resistance | 3 | + + | |
70 | Respiratory Hypersensitivity | 3 | + + | |
71 | Articulation Disorders | 3 | + + | |
72 | Dyslexia | 3 | + + | |
73 | Diabetic Ketoacidosis | 3 | + + | |
74 | Disease Progression | 3 | + + | |
75 | Ochronosis | 3 | + + | |
76 | Hyperlipidemias | 3 | + + | |
77 | Basal Ganglia Diseases | 2 | + + | |
78 | Porphyria, Erythropoietic | 2 | + + | |
79 | Sudden Infant Death | 2 | + + | |
80 | Epilepsy | 2 | + + | |
81 | Hypercapnia | 2 | + + | |
82 | Glycogen Storage Disease | 2 | + + | |
83 | Hypercholesterolemia | 2 | + + | |
84 | Aphasia | 2 | + + | |
85 | Dyslexia, Acquired | 2 | + + | |
86 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | 2 | + + | |
87 | Deficiency Diseases | 2 | + + | |
88 | Glucose Metabolism Disorders | 2 | + + | |
89 | Thyrotoxicosis | 2 | + + | |
90 | Urologic Diseases | 2 | + + | |
91 | Genetic Predisposition to Disease | 2 | + + | |
92 | Pancreatic Neoplasms | 2 | + + | |
93 | Mitochondrial Diseases | 2 | + + | |
94 | Movement Disorders | 2 | + + | |
95 | Muscular Diseases | 2 | + + | |
96 | Developmental Disabilities | 2 | + + | |
97 | Coagulation Protein Disorders | 2 | + + | |
98 | Renal Tubular Transport, Inborn Errors | 2 | + + | |
99 | Alcoholism | 2 | + + | |
100 | Anomia | 2 | + + | |
101 | Menkes Kinky Hair Syndrome | 2 | + + | |
102 | Bronchogenic Cyst | 2 | + + | |
103 | Crigler-Najjar Syndrome | 2 | + + | |
104 | Aphasia, Wernicke | 2 | + + | |
105 | Nervous System Diseases | 2 | + + | |
106 | Ichthyosis | 2 | + + | |
107 | Dehydration | 2 | + + | |
108 | Recurrence | 2 | + + | |
109 | Seasonal Affective Disorder | 2 | + + | |
110 | Adenocarcinoma | 2 | + + | |
111 | Eczema | 2 | + + | |
112 | Weight Loss | 2 | + + | |
113 | Cysts | 2 | + + | |
114 | Hyperopia | 2 | + + | |
115 | Anorexia Nervosa | 2 | + + | |
116 | Porphyrias | 2 | + + | |
117 | Pancreatic Cyst | 2 | + + | |
118 | Diabetes Mellitus, Type 1 | 2 | + + | |
119 | Hydronephrosis | 1 | + + | |
120 | Growth Disorders | 1 | + + | |
121 | Deafness | 1 | + + | |
122 | Myopia | 1 | + + | |
123 | Cholangiocarcinoma | 1 | + + | |
124 | Cholestasis | 1 | + + | |
125 | Cardiomyopathies | 1 | + + | |
126 | Chronic Disease | 1 | + + | |
127 | Phosphorus Metabolism Disorders | 1 | + + | |
128 | Liver Neoplasms | 1 | + + | |
129 | Aphasia, Broca | 1 | + + | |
130 | Hepatolenticular Degeneration | 1 | + + | |
131 | Brain Damage, Chronic | 1 | + + | |
132 | Apraxias | 1 | + + | |
133 | Bile Duct Neoplasms | 1 | + + | |
134 | Diarrhea | 1 | + + | |
135 | Abnormalities, Multiple | 1 | + + | |
136 | Nondisjunction, Genetic | 1 | + + | |
137 | Carcinoma, Hepatocellular | 1 | + + | |
138 | Occupational Diseases | 1 | + + | |
139 | Carcinoma, Pancreatic Ductal | 1 | + + | |
140 | Paralysis | 1 | + + | |
141 | Drug Overdose | 1 | + + | |
142 | Perceptual Disorders | 1 | + + | |
143 | Ovarian Neoplasms | 1 | + + | |
144 | Lipid Metabolism Disorders | 1 | + + | |
145 | Brain Diseases | 1 | + + | |
146 | Ureteral Neoplasms | 1 | + + | |
147 | Language Disorders | 1 | + + | |
148 | Astigmatism | 1 | + + | |
149 | Stomach Neoplasms | 1 | + + | |
150 | Cerebral Infarction | 1 | + + | |
151 | Gallbladder Neoplasms | 1 | + + | |
152 | Iron Metabolism Disorders | 1 | + + | |
153 | Anisometropia | 1 | + + | |
154 | Multiple Sclerosis | 1 | + + | |
155 | Hyperlipidemia, Familial Combined | 1 | + + | |
156 | Speech Disorders | 1 | + + | |
157 | Bone Diseases, Metabolic | 1 | + + | |
158 | Anemia, Macrocytic | 1 | + + | |
159 | Calcinosis | 1 | + + | |
160 | Galactosemias | 1 | + + | |
161 | Amblyopia | 1 | + + | |
162 | Hypoxia-Ischemia, Brain | 1 | + + | |
163 | Coma | 1 | + + | |