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DiseasesRatingBibliogr.Expand
1Amino Acid Metabolism, Inborn Errors100+ 
2Metabolism, Inborn Errors93+ 
3Hypolipoproteinemias61+ 
4Hypobetalipoproteinemias55+ 
5Hyperlipoproteinemias55+ 
6Hyperlipoproteinemia Type III53+ 
7Hyperlipoproteinemia Type II50+ 
8Hypercholesterolemia45+ 
9Acidosis44+ 
10Xanthomatosis44+ 
11Dihydropyrimidine Dehydrogenase Deficiency42+ 
12Lipid Metabolism, Inborn Errors37+ 
13Fabry Disease36+ 
14Metal Metabolism, Inborn Errors20+ 
15Calcium Metabolism Disorders16+ 
16Metabolic Diseases10+ 
17Glucose Metabolism Disorders10+ 
18Carbohydrate Metabolism, Inborn Errors9+ 
19Menkes Kinky Hair Syndrome9+ 
20Purine-Pyrimidine Metabolism, Inborn Errors8+ 
21Brain Diseases, Metabolic7+ 
22Homocystinuria7+ 
23Phosphorus Metabolism Disorders6+ 
24Hepatolenticular Degeneration6+ 
25Syndrome6+ 
26Lesch-Nyhan Syndrome5+ 
27Hyperlipidemias5+ 
28Lipid Metabolism Disorders5+ 
29Calcinosis4+ 
30Chronic Disease4+ 
31Fructose Intolerance4+ 
32Brain Diseases4+ 
33Brain Diseases, Metabolic, Inborn4+ 
34Hyperglycemia4+ 
35Iron Metabolism Disorders4+ 
36Diabetes Mellitus4+ 
37Bone Diseases, Metabolic4+ 
38Hyperlipidemia, Familial Combined4+ 
39Cognition Disorders4+ 
40Ketosis4+ 
41Seizures4+ 
42Muscle Hypotonia3+ 
43Diabetes Complications3+ 
44Phenylketonurias3+ 
45Hyperglycinemia, Nonketotic3+ 
46Disease Progression3+ 
47Diabetes Mellitus, Type 23+ 
48Muscular Diseases3+ 
49Hemochromatosis3+ 
50Alcoholism3+ 
51Lipodystrophy3+ 
52Epilepsy3+ 
53Ochronosis3+ 
54Basal Ganglia Diseases3+ 
55Steroid Metabolism, Inborn Errors3+ 
56Insulin Resistance3+ 
57Bone Diseases3+ 
58Hypoglycemia3+ 
59Hypophosphatasia3+ 
60Hyperammonemia3+ 
61Atrophy3+ 
62Acute Disease3+ 
63Hypocalcemia3+ 
64Hypertension3+ 
65Kidney Diseases3+ 
66Acidosis, Lactic3+ 
67Alzheimer Disease3+ 
68Coma3+ 
69Hypercalcemia3+ 
70Hypoparathyroidism3+ 
71Kidney Failure, Chronic3+ 
72Nervous System Diseases3+ 
73Diabetes Mellitus, Lipoatrophic3+ 
74Disease Models, Animal3+ 
75Alcohol-Related Disorders3+ 
76Alkaptonuria3+ 
77Tyrosinemias3+ 
78Recurrence3+ 
79Pregnancy Complications3+ 
80Anemia, Megaloblastic3+ 
81Galactosemias3+ 
82Body Weight2+ 
83Genetic Predisposition to Disease2+ 
84Mental Disorders2+ 
85Korsakoff Syndrome2+ 
86Hyperhomocysteinemia2+ 
87Inflammation2+ 
88Glycosuria2+ 
89Intellectual Disability2+ 
90Smith-Lemli-Opitz Syndrome2+ 
91Necrosis2+ 
92Osteoporosis2+ 
93Neurotic Disorders2+ 
94Gout2+ 
95Anemia, Macrocytic2+ 
96Brain Injuries2+ 
97Diabetic Ketoacidosis2+ 
98Hyperparathyroidism, Secondary2+ 
99Skin Diseases2+ 
100Aphasia2+ 
101Postmortem Changes2+ 
102Rhabdomyolysis2+ 
103Osteomalacia2+ 
104Dyslipidemias2+ 
105Postoperative Complications2+ 
106Fatigue2+ 
107MELAS Syndrome2+ 
108Psychomotor Disorders2+ 
109Maple Syrup Urine Disease2+ 
110Hypothyroidism2+ 
111Glycogen Storage Disease2+ 
112Diabetes Mellitus, Type 12+ 
113Mucopolysaccharidosis I2+ 
114Cerebral Infarction2+ 
115Nerve Degeneration2+ 
116Dementia2+ 
117Neurodegenerative Diseases2+ 
118Liver Diseases2+ 
119Neuromuscular Diseases2+ 
120Pain2+ 
121Mitochondrial Diseases2+ 
122Malabsorption Syndromes2+ 
123Chorea2+ 
124Persistent Vegetative State2+ 
125Failure to Thrive2+ 
126Tangier Disease2+ 
127Bone Resorption2+ 
128Fanconi Syndrome2+ 
129Zellweger Syndrome2+ 
130Uremia2+ 
131Cerebellar Ataxia2+ 
132Infant, Newborn, Diseases2+ 
133Myocardial Stunning2+ 
134Liver Cirrhosis2+ 
135Ornithine Carbamoyltransferase Deficiency Disease2+ 
136Alcoholic Intoxication2+ 
137Diseases in Twins2+ 
138Ataxia2+ 
139Depressive Disorder2+ 
140Acrodermatitis2+ 
141Growth Disorders2+ 
142Developmental Disabilities2+ 
143Reye Syndrome2+ 
144Mitochondrial Myopathies2+ 
145Liver Failure2+ 
146Niemann-Pick Diseases2+ 
147Fractures, Bone2+ 
148Neuroaxonal Dystrophies2+ 
149Ichthyosis2+ 
150Cerebrovascular Disorders2+ 
151Photosensitivity Disorders2+ 
152Anorexia2+ 
153Fibrosis2+ 
154Rickets2+ 
155Hyperoxaluria2+ 
156Hypoxia, Brain2+ 
157Hypoxia-Ischemia, Brain2+ 
158Substance-Related Disorders2+ 
159Hyperbilirubinemia2+ 
160Cerebral Palsy2+ 
161Deafness2+ 
162Joint Diseases2+ 
163Neoplasms2+ 
164Ichthyosiform Erythroderma, Congenital2+ 
165Demyelinating Diseases2+ 
166Occupational Diseases2+ 
167Schizophrenia2+ 
168Dysarthria2+ 
169Brain Ischemia2+ 
170Fructose Metabolism, Inborn Errors2+ 
171Hyperparathyroidism2+ 
172Urolithiasis2+ 
173Amnesia2+ 
174Drug-Induced Liver Injury2+ 
175Parkinson Disease2+ 
176Cardiomyopathies2+ 
177Hepatomegaly2+ 
178Renal Insufficiency, Chronic1+ 
179Hypophosphatemia, Familial1+ 
180Diffuse Cerebral Sclerosis of Schilder1+ 
181Hyperplasia1+ 
182Obesity1+ 
183Lecithin Acyltransferase Deficiency1+ 
184Nephrocalcinosis1+ 
185Abnormalities, Multiple1+ 
186Ossification, Heterotopic1+ 
187Leukodystrophy, Metachromatic1+ 
188Renal Osteodystrophy1+ 
189Leigh Disease1+ 
190Metabolic Syndrome X1+ 
191Vitamin B 12 Deficiency1+ 
192Poisoning1+ 
193Genetic Diseases, Inborn1+ 
194Disease1+ 
195Sarcoidosis1+ 
196Abetalipoproteinemia1+ 
197Porphyria, Erythropoietic1+ 
198Nutrition Disorders1+ 
199Pellagra1+ 
200Brain Neoplasms1+ 
201Death1+ 
202Migraine Disorders1+ 
203Epilepsies, Partial1+ 
204Progeria1+ 
205Opioid-Related Disorders1+ 
206Porphyrias1+ 
207Psychotic Disorders1+ 
208Huntington Disease1+ 
209Hyperoxaluria, Primary1+ 
210Lipodystrophy, Congenital Generalized1+ 
211Renal Aminoacidurias1+ 
212Eye Diseases1+ 
213Prediabetic State1+ 
214Hypertriglyceridemia1+ 
215Drug Overdose1+ 
216Brain Damage, Chronic1+ 
217Hyperlipoproteinemia Type IV1+ 
218Movement Disorders1+ 
219Tooth Diseases1+ 
220Pyruvate Dehydrogenase Complex Deficiency Disease1+ 
221Calciphylaxis1+ 
222Central Nervous System Diseases1+ 
223Hyperinsulinism1+ 
224Epilepsy, Tonic-Clonic1+ 
225Fatty Liver1+ 
226Pseudohypoparathyroidism1+ 
227Glycogen Storage Disease Type I1+ 
228Urinary Calculi1+ 
229Parkinson Disease, Secondary1+ 
230Propionic Acidemia1+ 
231Neck Pain1+ 
232Fractures, Spontaneous1+ 
233Pyruvate Metabolism, Inborn Errors1+ 
234Hypertrophy1+ 
235Lung Diseases1+ 
236Holocarboxylase Synthetase Deficiency1+ 
237Personality Disorders1+ 
238Renal Insufficiency1+ 
239Granuloma1+ 
240Adenoma1+ 
241Facial Pain1+ 
242Lipomatosis, Multiple Symmetrical1+ 
243Mucopolysaccharidoses1+ 
244Memory Disorders1+ 
245Porphyrias, Hepatic1+ 
246Blood Platelet Disorders1+ 
247Adrenoleukodystrophy1+ 
248Asthma1+ 
249Alkalosis, Respiratory1+ 
250Leukopenia1+ 
251Anorexia Nervosa1+ 
252Arthritis, Rheumatoid1+ 
253Hirsutism1+ 
254Diabetic Coma1+ 
255HIV Infections1+ 
256Gilbert Disease1+ 
257Werner Syndrome1+ 
258Stroke1+ 
259Peripheral Nervous System Diseases1+ 
260Unconsciousness1+ 
261Thalamic Diseases1+ 
262Short Bowel Syndrome1+ 
263Vision Disorders1+ 
264Magnesium Deficiency1+ 
265Dementia, Multi-Infarct1+ 
266Osteogenesis Imperfecta1+ 
267Pancreatitis1+ 
268Dystonia1+ 
269Exostoses1+ 
270Mitochondrial Encephalomyopathies1+ 
271Oculocerebrorenal Syndrome1+ 
272Ergotism1+ 
273Bone Neoplasms1+ 
274Spinal Fractures1+ 
275Myoclonus1+ 
276Muscular Atrophy1+ 
277Akinetic Mutism1+ 
278Dog Diseases1+ 
279Trismus1+ 
280Intestinal Diseases1+ 
281Renal Tubular Transport, Inborn Errors1+ 
282Kidney Calculi1+ 
283Astrocytoma1+ 
284Pigmentation Disorders1+ 
285Multiple Acyl Coenzyme A Dehydrogenase Deficiency1+ 
286Arteriosclerosis1+ 
287Bone Diseases, Developmental1+ 
288Hypophosphatemia1+ 
289Acute Kidney Injury1+ 
290Folic Acid Deficiency1+ 
291Hematologic Diseases1+ 
292Tetany1+ 
293Anemia, Hypochromic1+ 
294Lysosomal Storage Diseases1+ 
295Osteopetrosis1+ 
296Dissociative Disorders1+ 
297Gliosis1+ 
298Hyperthyroidism1+ 
299Stupor1+ 
300Cataract1+ 
301Citrullinemia1+ 
302Jaundice1+ 
303Deficiency Diseases1+ 
304Fever1+ 
305Epilepsy, Temporal Lobe1+ 
306Infant, Premature, Diseases1+ 
307Retinitis Pigmentosa1+ 
308Brain Edema1+ 
309Hyperbilirubinemia, Hereditary1+ 
310Cardiomyopathy, Dilated1+ 
311Muscle Weakness1+ 
312Hyperostosis1+ 
313Diabetes, Gestational1+ 
314Spinocerebellar Degenerations1+ 
315Edema1+ 
316Drug-Related Side Effects and Adverse Reactions1+ 
317Iron Overload1+ 
318Dislocations1+ 
319Alcohol Amnestic Disorder1+ 
320Peroxisomal Disorders1+ 
321Respiratory Insufficiency1+ 
322Nausea1+ 
323Inflammatory Bowel Diseases1+ 
324Mandibular Diseases1+ 
325Arsenic Poisoning1+ 
326Vitamin B 6 Deficiency1+ 
327Anemia1+ 
328Porphyria, Acute Intermittent1+ 
329Splenomegaly1+ 
330Cholestasis1+ 
331Multiple Sclerosis1+ 
332Apraxias1+ 
333Skin Neoplasms1+ 
334Muscle Spasticity1+ 
335Eczema1+ 
336Blood Coagulation Disorders1+ 
337Cystic Fibrosis1+ 
338Subarachnoid Hemorrhage1+ 
339Anemia, Iron-Deficiency1+ 
340Sjogren-Larsson Syndrome1+ 
341Mandibular Fractures1+ 
342Anoxia1+ 
343Congenital Abnormalities1+ 
344Autistic Disorder1+ 
345Carbon Monoxide Poisoning1+ 
346Bacterial Infections1+ 
347Hyperphosphatemia1+ 
348Masochism1+ 
349Self Mutilation1+ 
350Dwarfism1+ 
351Sadism1+ 
352Vestibular Diseases1+ 
353Cardiovascular Diseases1+ 
354Liver Neoplasms1+ 
355Fluoride Poisoning1+ 
356Status Epilepticus1+ 
357Cytochrome-c Oxidase Deficiency1+ 
358Mucopolysaccharidosis VI1+ 
359Cerebellar Diseases1+ 
360Gingival Hypertrophy1+ 
361Parkinsonian Disorders1+ 
362Malnutrition1+ 
363Hypokalemia1+ 
364Adenocarcinoma1+ 
365Heart Failure1+ 
366Lung Neoplasms1+ 
367Weight Loss1+ 
368Mucolipidoses1+ 
369Craniosynostoses1+ 
370Child Behavior Disorders1+ 
371Retinal Degeneration1+ 
372Nephrotic Syndrome1+ 
373Proteinuria1+ 
374Osteochondroma1+ 
375Osteitis Deformans1+ 
376Polyneuropathies1+ 
377Argininosuccinic Aciduria1+ 
378Glycogen Storage Disease Type V1+ 
379Hyperlipoproteinemia Type V1+ 
380Scleroderma, Localized1+ 
381Osteomyelitis1+ 
382Crigler-Najjar Syndrome1+ 
383Mucopolysaccharidosis II1+ 
384Bipolar Disorder1+ 
385Alopecia1+ 
386Refsum Disease1+ 
387Anemia, Hemolytic1+ 
388Brain Death1+ 
389Pancreatic Neoplasms1+ 
390Thrombocytopenia1+ 
391Optic Atrophy1+ 
392Fractures, Closed1+ 
393Glycogen Storage Disease Type VII1+ 
394Delirium, Dementia, Amnestic, Cognitive Disorders1+ 
395Thyrotoxicosis1+ 
396Disease Susceptibility1+ 
397Polycythemia1+ 
398Livedo Reticularis1+ 
399Ischemia1+ 
400Hepatic Encephalopathy1+ 
401Language Disorders1+ 
402Psoriasis1+ 
403Spinal Diseases1+ 
404Hearing Loss, Sensorineural1+ 
405Dysostoses1+ 
406Sudden Infant Death1+ 
407Breast Neoplasms1+ 
408Arthritis, Gouty1+ 
409Cystinuria1+ 
410Abscess1+ 
411Lung Diseases, Obstructive1+ 
412Wounds and Injuries1+ 
413Vomiting1+ 
414Vitamin D Deficiency1+ 
415Glioma1+ 
416Pneumonia1+ 
417Lens Subluxation1+ 
418Colitis, Ulcerative1+ 
419Neoplasm Recurrence, Local1+ 
420Myoglobinuria1+ 
421Psychophysiologic Disorders1+ 
422Dehydration1+ 
423Cushing Syndrome1+ 
424Glucosephosphate Dehydrogenase Deficiency1+ 
425Crohn Disease1+ 
426Obsessive-Compulsive Disorder1+ 
427Sclerosis1+ 
428Stress Disorders, Post-Traumatic1+ 
429Thyroid Diseases1+ 
430Lipidoses1+ 
431Neoplasm Metastasis1+ 
432Corneal Opacity1+ 
433Paresis1+ 
434Gastrointestinal Diseases1+ 
435Nondisjunction, Genetic1+ 
436Disorders of Excessive Somnolence1+ 
437Porphyria Cutanea Tarda1+ 
438Cholestasis, Intrahepatic1+ 
439Hyperventilation1+ 
440Learning Disorders1+ 
441Acidosis, Respiratory1+ 
442Diabetic Nephropathies1+ 
443Protein-Energy Malnutrition1+ 
444Liver Diseases, Alcoholic1+ 
445Epilepsy, Complex Partial1+ 
446Hemorrhage1+ 
447Familial Hypophosphatemic Rickets1+ 
448Epilepsies, Myoclonic1+ 
449Ventricular Remodeling1+ 
450Cardiomyopathy, Hypertrophic1+ 
451Prostatic Neoplasms1+ 
452Euthyroid Sick Syndromes1+ 
453Pathologic Processes1+ 
454Speech Disorders1+ 
455Tay-Sachs Disease1+ 
456Heredodegenerative Disorders, Nervous System1+ 
457Brain Infarction1+ 
458Lupus Erythematosus, Systemic1+ 
459Anemia, Sideroblastic1+ 
460Mineralocorticoid Excess Syndrome, Apparent1+ 
461Dyslexia1+ 
462Kearns-Sayre Syndrome1+ 
463Convalescence1+ 
464Retroperitoneal Fibrosis1+ 
465Liver Cirrhosis, Alcoholic1+ 

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