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Symptoms:

    


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DiseasesRatingBibliogr.Expand
1Mannosidase Deficiency Diseases100+ 
2Deficiency Diseases51+ 
3Multiple Sulfatase Deficiency Disease48+ 
4Carbamoyl-Phosphate Synthase I Deficiency Disease32+ 
5Pyruvate Carboxylase Deficiency Disease22+ 
6Vitamin B 12 Deficiency15+ 
7Ornithine Carbamoyltransferase Deficiency Disease13+ 
8Pyruvate Dehydrogenase Complex Deficiency Disease12+ 
9alpha 1-Antitrypsin Deficiency11+ 
10IgA Deficiency11+ 
11Protein C Deficiency9+ 
12Protein S Deficiency8+ 
13Factor VII Deficiency7+ 
14Immunologic Deficiency Syndromes7+ 
15Vitamin A Deficiency7+ 
16Metabolism, Inborn Errors6+ 
17IgG Deficiency6+ 
18Factor XI Deficiency6+ 
19Vitamin D Deficiency6+ 
20Factor X Deficiency6+ 
21Folic Acid Deficiency6+ 
22Antithrombin III Deficiency6+ 
23Vitamin K Deficiency5+ 
24Factor V Deficiency5+ 
25Factor XIII Deficiency5+ 
26Factor XII Deficiency5+ 
27Thiamine Deficiency5+ 
28Glucosephosphate Dehydrogenase Deficiency4+ 
29Biotinidase Deficiency4+ 
30Vitamin B Deficiency4+ 
31Vitamin E Deficiency4+ 
32Cytochrome-c Oxidase Deficiency4+ 
33Adrenal Hyperplasia, Congenital4+ 
34Dysgammaglobulinemia4+ 
35Anemia, Iron-Deficiency3+ 
36Lecithin Acyltransferase Deficiency3+ 
37Protein Deficiency3+ 
38Fructose-1,6-Diphosphatase Deficiency3+ 
39Leukocyte-Adhesion Deficiency Syndrome3+ 
40Vitamin B 6 Deficiency3+ 
41Dihydropyrimidine Dehydrogenase Deficiency3+ 
42Carbohydrate Metabolism, Inborn Errors2+ 
43Lipid Metabolism, Inborn Errors2+ 
44Ascorbic Acid Deficiency2+ 
45Dwarfism, Pituitary2+ 
46Purine-Pyrimidine Metabolism, Inborn Errors2+ 
47Anemia, Hypochromic2+ 
48Magnesium Deficiency2+ 
49Brain Diseases, Metabolic2+ 
50Metabolic Diseases2+ 
51Growth Disorders2+ 
52Acquired Immunodeficiency Syndrome2+ 
53Phenylketonurias2+ 
54Syndrome1+ 
55Hypoprothrombinemias1+ 
56Multiple Carboxylase Deficiency1+ 
57Muscular Diseases1+ 
58Hyperammonemia1+ 
59Holocarboxylase Synthetase Deficiency1+ 
60Muscle Hypotonia1+ 
61Glycogen Storage Disease1+ 
62Hyperargininemia1+ 
63Genetic Predisposition to Disease1+ 
64Mitochondrial Diseases1+ 
65Malabsorption Syndromes1+ 
66Genetic Diseases, Inborn1+ 
67Severe Combined Immunodeficiency1+ 
68Brain Diseases, Metabolic, Inborn1+ 
69Anemia, Hemolytic1+ 
70Anemia, Hemolytic, Congenital Nonspherocytic1+ 
71Disease1+ 
72Recurrence1+ 
73Disorders of Sex Development1+ 
74Acidosis, Lactic1+ 
75Agammaglobulinemia1+ 
76Hypopituitarism1+ 
77Anemia, Hemolytic, Congenital1+ 
78Anemia, Megaloblastic1+ 
79Leigh Disease1+ 
80Failure to Thrive1+ 
81Lactose Intolerance1+ 
82Anemia, Pernicious1+ 
83Acidosis1+ 
84Vitamin K Deficiency Bleeding1+ 
85Myoglobinuria1+ 
86Rickets1+ 
87Pregnancy Complications, Hematologic1+ 
88Thrombophlebitis1+ 
89Hypolipoproteinemias1+ 
90Adrenal Insufficiency1+ 
91Homocystinuria1+ 
92Nervous System Diseases1+ 
93Glycogen Storage Disease Type VII1+ 
94Multiple Acyl Coenzyme A Dehydrogenase Deficiency1+ 
95Infant Nutrition Disorders1+ 
96Anemia, Macrocytic1+ 
97Angioedema1+ 
98Mitochondrial Myopathies1+ 
99Developmental Disabilities1+ 
100Hyperlipoproteinemia Type I1+ 
101Intellectual Disability1+ 
102Metal Metabolism, Inborn Errors1+ 
103Hypoglycemia1+ 
104Lymphopenia1+ 
105Disease Susceptibility1+ 
106Psychomotor Disorders1+ 
107Ketosis1+ 
108Steroid Metabolism, Inborn Errors1+ 
109Hemophilia A1+ 
110Hemorrhagic Disorders1+ 
111Ataxia1+ 
112Hypogonadism1+ 
113Thrombosis1+ 
114Hypothyroidism1+ 
115Coagulation Protein Disorders1+ 
116Anemia1+ 
117Thrombophilia1+ 
118Hemophilia B1+ 
119Neuromuscular Diseases1+ 
120Lesch-Nyhan Syndrome1+ 
121Infant, Newborn, Diseases1+ 
122Hemolysis1+ 
123Spherocytosis, Hereditary1+ 
124Acrodermatitis1+ 
125Riboflavin Deficiency1+ 
126Xerophthalmia1+ 
127Leukodystrophy, Metachromatic1+ 
128Abnormalities, Multiple1+ 
129Glycogen Storage Disease Type V1+ 
130Respiratory Tract Infections1+ 
131Infection1+ 
132Hemorrhage1+ 
133Avitaminosis1+ 
134Glycogen Storage Disease Type II1+ 
135Mevalonate Kinase Deficiency1+ 
136Pregnancy Complications1+ 

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