Search results for Acetoacetic acid

358 hits were found for Acetoacetic acid

# Family MCID Name MIFTS Score
1
SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 34 28.133
2
P MPL001 Maple Syrup Urine Disease 69 26.997
3
LPD008 Lipid Metabolism Disorder 61 26.822
4
ALK013 Alkaptonuria 58 19.903
5
FTT001 Fatty Liver Disease 61 19.696
6
NNL005 Non-Alcoholic Fatty Liver Disease 63 19.253
7
RPD005 Rapidly Involuting Congenital Hemangioma 48 18.822
8
CHL068 Cholestasis 61 17.493
9
MTB004 Metabolic Acidosis 48 16.248
10
c TYP009 Type 2 Diabetes Mellitus 91 15.890
11
P LVR013 Liver Disease 68 15.806
12
P NRB001 Neuroblastoma 66 15.767
13
LVR012 Liver Cirrhosis 62 15.006
14
ORG002 Organic Acidemia 43 14.889
15
OST012 Osteoarthritis 77 14.251
16
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 14.231
17
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 14.108
18
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 14.107
19
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 14.107
20
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 14.107
21
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 14.107
22
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 14.107
23
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 14.107
24
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 14.106
25
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 14.104
26
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 14.101
27
CTR172 Citrullinemia, Classic 64 13.831
28
P SZR006 Seizure Disorder 69 13.671
29
HLX001 Helix Syndrome 47 13.663
30
CLT003 Colitis 63 13.619
31
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 13.473
32
48X005 48,xyyy 39 13.395
33
HYP066 Hyperglycemia 60 13.360
34
P BRS047 Breast Cancer 97 13.303
35
P HYP750 Hypertriglyceridemia, Familial 61 13.288
36
c HYP836 Hypercholesterolemia, Familial, 1 73 13.104
37
GLL048 Glial Tumor 51 13.100
38
P DBT009 Diabetes Mellitus 67 13.023
39
GLM045 Glioma 62 12.992
40
ATH013 Atherosclerosis Susceptibility 63 12.903
41
PRM236 Primary Biliary Cholangitis 62 12.892
42
ISC004 Ischemia 61 12.087
43
P KDN018 Kidney Disease 71 12.000
44
AGN016 Aging 53 11.876
45
BNR002 Bone Resorption Disease 47 11.866
46
P HPT023 Hepatocellular Carcinoma 95 11.790
47
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 11.641
48
NNL006 Non-Alcoholic Steatohepatitis 54 11.543
49
c CHR684 Chronic Kidney Disease 73 11.490
50
PHN003 Phenylketonuria 76 11.228
51
P DRR001 Diarrhea 55 11.182
52
P ENC018 Encephalopathy 62 11.121
53
ULC004 Ulcerative Colitis 74 11.088
54
GLB002 Glioblastoma 67 11.029
55
P HPT021 Hepatitis 68 11.024
56
PPT005 Peptic Ulcer Disease 58 11.023
57
P PRS040 Prostate Cancer 95 10.987
58
c TYP008 Type 1 Diabetes Mellitus 77 10.864
59
HYP056 Hypoglycemia 65 10.791
60
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 10.740
61
P ALZ034 Alzheimer Disease 87 10.717
62
P VSC007 Vascular Disease 62 10.688
63
P PRD008 Periodontitis 63 10.617
64
P HRT032 Heart Disease 84 10.186
65
P PNC035 Pancreatic Cancer 87 10.087
66
P ART022 Arthritis 70 10.011
67
P EPL164 Epilepsy 70 9.866
68
P BPL003 Bipolar Disorder 56 9.770
69
c MJR022 Major Affective Disorder 8 37 9.742
70
c MJR024 Major Affective Disorder 9 40 9.742
71
PRT037 Pertussis 49 9.715
72
HYP266 Hypoxia 56 9.588
73
c ACT027 Acute Pancreatitis 60 9.588
74
ALC007 Alcohol Dependence 65 9.571
75
HYP060 Hyperinsulinism 53 9.560
76
c INH020 Inherited Metabolic Disorder 47 9.536
77
P PNC044 Pancreatitis 61 9.423
78
CYT002 Cytokine Deficiency 43 9.407
79
P MYP004 Myopathy 67 9.346
80
P LCT001 Lactic Acidosis 50 9.336
81
P RHM011 Rheumatoid Arthritis 81 9.194
82
HPT019 Hepatic Encephalopathy 59 9.169
83
P MYC007 Myocardial Infarction 69 9.091
84
BRN071 Brain Injury 50 9.087
85
HPT004 Hepatic Coma 43 9.016
86
P NRP001 Neuropathy 59 9.002
87
P MYC084 Mycobacterium Tuberculosis 1 68 8.942
88
P ADN016 Adenocarcinoma 63 8.931
89
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 8.875
90
RCK004 Rickets 64 8.862
91
47X002 47,xyy 47 8.800
92
BCT022 Bacterial Infectious Disease 55 8.775
93
c ACT071 Acute Kidney Failure 60 8.744
94
P GLM040 Glioma Susceptibility 1 70 8.580
95
c ATS007 Autism Spectrum Disorder 71 8.544
96
URM002 Uremia 47 8.535
97
TRM010 Traumatic Brain Injury 50 8.498
98
c MCR120 Microvascular Complications of Diabetes 7 47 8.448
99
HRW001 Hair Whorl 35 8.412
100
P ALC033 Alcohol Use Disorder 67 8.321
101
c MCR113 Microvascular Complications of Diabetes 3 52 8.314
102
CNG034 Congestive Heart Failure 69 8.294
103
DWN001 Down Syndrome 70 8.285
104
c HPT001 Hepatitis C 61 8.236
105
PRT251 Proteinuria, Chronic Benign 58 8.149
106
c MCR133 Microvascular Complications of Diabetes 4 41 8.139
107
c MCR130 Microvascular Complications of Diabetes 6 41 8.138
108
c HPT073 Hepatitis C Virus 70 8.122
109
P CRD246 Cardiovascular System Disease 55 8.102
110
RNL114 Renal Cell Carcinoma, Nonpapillary 79 8.036
111
c HPT016 Hepatitis B 62 8.026
112
TXC005 Toxic Shock Syndrome 61 7.935
113
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 7.906
114
GLC003 Glucose Intolerance 53 7.905
115
PRT036 Peritonitis 65 7.903
116
STT001 Status Epilepticus 58 7.870
117
DBT084 Diabetes Mellitus, Ketosis-Prone 59 7.864
118
P URN019 Urinary Tract Infection 48 7.817
119
INS024 Insulin-Like Growth Factor I 77 7.772
120
CRB039 Cerebrovascular Disease 65 7.758
121
HGH043 High Grade Glioma 46 7.622
122
PRP001 Propionic Acidemia 65 7.550
123
OCL069 Ocular Motor Apraxia 57 7.543
124
P MSC003 Muscular Atrophy 52 7.504
125
SPN186 Spinal Cord Injury 60 7.486
126
PLM129 Pulmonary Disease, Chronic Obstructive 74 7.472
127
c PCH010 Pachyonychia Congenita 3 43 7.425
128
SVR001 Severe Acute Respiratory Syndrome 68 7.418
129
P MLT020 Multiple Sclerosis 79 7.374
130
P ZLL001 Zellweger Syndrome 65 7.320
131
P ADL010 Adult Respiratory Distress Syndrome 70 7.208
132
PPL052 Papillomatosis, Confluent and Reticulated 34 7.206
133
P GLY013 Glycogen Storage Disease 59 7.166
134
HYP005 Hypokalemia 55 7.096
135
P HYP086 Hypothyroidism 68 7.092
136
LNG099 Lung Disease 62 7.021
137
P ATT013 Attention Deficit-Hyperactivity Disorder 65 7.015
138
MLG169 Malignant Astrocytoma 57 7.014
139
c DWL002 Dowling-Degos Disease 1 58 6.991
141
HMP009 Haemophilus Influenzae 41 6.873
142
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 58 6.859
143
c ACT075 Acute Myocardial Infarction 55 6.805
144
ATM095 Autoimmune Disease 61 6.803
145
P MSC005 Muscular Dystrophy 66 6.681
146
GST033 Gestational Diabetes 60 6.672
147
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 6.571
148
P PNM007 Pneumonia 64 6.498
149
P DMN002 Dementia 65 6.469
150
P TRM003 Tremor 50 6.375
151
IRR002 Irritable Bowel Syndrome 64 6.307
152
P LKM062 Leukemia, Acute Lymphoblastic 69 6.225
153
P GLM007 Glomerulonephritis 59 6.130
154
LPT014 Leptin Deficiency or Dysfunction 77 6.093
155
MLD018 Mild Cognitive Impairment 48 6.074
156
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62 6.072
157
ATS010 Autosomal Recessive Disease 42 6.063
158
P ART023 Arthropathy 59 6.026
159
ANX004 Anoxia 40 5.982
160
P TYR004 Tyrosinemia 49 5.936
161
ANG054 Angina Pectoris 65 5.871
162
P EYD002 Eye Disease 57 5.864
163
DSS032 Disease by Infectious Agent 55 5.855
164
P HYP265 Hypotonia 42 5.802
165
P NPH012 Nephrotic Syndrome 61 5.691
166
INS001 Insulinoma 59 5.689
167
P FNC004 Fanconi Syndrome 60 5.650
168
BRN028 Brain Cancer 73 5.642
169
PLM010 Pulmonary Edema 54 5.615
170
SVR004 Severe Combined Immunodeficiency 70 5.579
171
P OBS001 Obstructive Jaundice 49 5.481
172
P BRS044 Breast Adenocarcinoma 58 5.464
173
GST045 Gastroenteritis 58 5.353
174
ALL014 Allergic Encephalomyelitis 34 5.325
175
P MLN007 Male Infertility 56 5.286
176
PNG002 Pain Agnosia 51 5.270
177
ANX010 Anxiety 70 5.219
178
P RNL007 Renal Tubular Acidosis 52 5.153
179
P HYP076 Hyperthyroidism 53 5.102
180
P MNN013 Meningitis 65 5.099
181
c FML021 Familial Hypercholesterolemia 71 5.091
182
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 5.011
183
c LKM005 Leukemia, T-Cell, Chronic 33 4.979
184
INT323 Intraocular Pressure Quantitative Trait Locus 63 4.973
185
c ACT134 Acute Liver Failure 57 4.972
186
BRN004 Brain Edema 54 4.942
187
c TYR012 Tyrosinemia, Type I 61 4.836
188
P CRD119 Cardiac Arrest 68 4.775
189
MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 42 4.718
190
NWC001 Newcastle Disease 47 4.692
191
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 51 4.638
192
c DLT002 Dilated Cardiomyopathy 79 4.625
193
AMN006 Aminoaciduria 37 4.605
194
MST005 Mastitis 52 4.604
195
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 4.567
196
P SRC025 Sarcoidosis 1 70 4.527
197
RNL077 Renal Fibrosis 46 4.459
198
MSL001 Measles 61 4.451
199
PRP080 Peripheral Artery Disease 54 4.450
200
c 3MT015 3-Methylglutaconic Aciduria, Type I 51 4.444
201
HDN002 Head Injury 44 4.437
202
RYS001 Reye Syndrome 49 4.436
203
P CLC063 Celiac Disease 1 65 4.364
204
P ANP001 Anaplastic Large Cell Lymphoma 59 4.338
205
CHR074 Choriocarcinoma 46 4.298
206
CYS010 Cystinosis 61 4.244
207
PST092 Posttransplant Acute Limbic Encephalitis 29 4.236
208
c ATM011 Autoimmune Hepatitis 62 4.201
209
IGG001 Iga Glomerulonephritis 50 4.191
210
HYP141 Hyperphenylalaninemia 42 4.131
211
DYS015 Dysentery 49 4.112
212
ALP077 Alpha-Methylacetoacetic Aciduria 52 4.102
213
PRT013 Portal Hypertension 59 4.099
214
HYP017 Hypophosphatemia 49 4.040
215
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 3.951
216
SPS057 Spasticity 43 3.945
217
PYR037 Pyruvate Carboxylase Deficiency 45 3.935
218
P HML002 Hemolytic Anemia 62 3.932
219
3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 51 3.923
220
PNC041 Pancreatic Ductal Adenocarcinoma 51 3.913
221
MSC157 Muscular Dystrophy, Duchenne Type 78 3.905
222
ANR007 Anorexia Nervosa 59 3.874
223
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 34 3.816
224
SPL018 Splenomegaly 47 3.814
225
INT002 Intermittent Claudication 61 3.812
226
P PLY018 Polycythemia 56 3.810
227
ADG002 Audiogenic Seizures 25 3.786
228
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 40 3.673
229
CHR073 Choreatic Disease 53 3.673
230
DSS009 Disseminated Intravascular Coagulation 56 3.649
231
P MTC069 Mitochondrial Disorders 57 3.609
232
WTH001 Withdrawal Disorder 47 3.589
233
c 3MT007 3-Methylglutaconic Aciduria 37 3.557
234
P HYD006 Hydrocephalus 62 3.519
235
NPH003 Nephrocalcinosis 49 3.413
236
OCH001 Ochronosis 40 3.410
237
HRY003 Hairy Cell Leukemia 53 3.374
238
MTC005 Mitochondrial Metabolism Disease 44 3.353
239
ALC006 Alcoholic Hepatitis 61 3.351
240
TBR011 Tuberculous Meningitis 48 3.313
241
YLL002 Yellow Fever 61 3.286
242
PLY001 Polycythemia Vera 69 3.276
243
PLG002 Plague 58 3.276
244
BRT005 Barth Syndrome 55 3.275
245
URT010 Ureteral Obstruction 44 3.247
246
HPT022 Hepatoblastoma 54 3.201
247
MLN011 Malonyl-Coa Decarboxylase Deficiency 37 3.188
248
P FTL001 Fetal Alcohol Syndrome 55 3.177
249
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 52 3.167
250
P MYC008 Myocarditis 59 3.137
251
ATN005 Autonomic Dysfunction 45 3.136
252
THR004 Thrombocytosis 52 3.134
253
FBR012 Fabry Disease 71 3.082
254
CMB007 Combined Immunodeficiency 56 3.028
255
CRB009 Cerebritis 43 3.021
256
c GRV008 Graves Disease 1 54 3.012
257
P TRT010 Teratoma 50 3.009
258
c BCT007 Bacterial Meningitis 55 2.992
259
INT075 Intracranial Hypertension 52 2.958
260
P TBR001 Tuberous Sclerosis 69 2.949
261
SLP001 Sleeping Sickness 56 2.937
262
CRT084 Creatinine Clearance Quantitative Trait Locus 25 2.910
263
P BRB001 Beriberi 44 2.854
264
MNC019 Monocarboxylate Transporter 1 Deficiency 46 2.833
265
CRC021 Carcinosarcoma 62 2.828
266
ESP002 Esophageal Varix 51 2.776
267
GLC036 Glucagonoma 45 2.771
268
c TBR025 Tuberous Sclerosis 1 84 2.751
269
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 2.739
270
HSD004 Hsd10 Mitochondrial Disease 44 2.712
271
P OPT006 Optic Nerve Disease 57 2.704
272
NRM005 Neuromuscular Disease 62 2.636
273
c PLM127 Pulmonary Hypertension, Primary, 3 34 2.585
274
ART109 Arterial Thoracic Outlet Syndrome 24 2.578
275
P MTC133 Mitochondrial Myopathy 51 2.559
276
ECT026 Ectopic Pregnancy 47 2.411
278
c RNG015 Ring Chromosome 2 22 2.367
279
GRW007 Growth Hormone Deficiency 47 2.313
280
CCC002 Coccidiosis 50 2.280
281
ASP004 Asphyxia Neonatorum 50 2.274
282
LGH007 Leigh Syndrome 70 2.205
283
WLL004 Wallerian Degeneration 38 2.200
284
P MLG056 Malignant Hyperthermia 65 2.190
285
P FCL005 Focal Segmental Glomerulosclerosis 57 2.177
286
INT262 Intermediate Maple Syrup Urine Disease 22 2.158
287
RST023 Resting Heart Rate, Variation in 40 2.147
288
P HML001 Hemolytic-Uremic Syndrome 52 2.117
289
CCN001 Cocaine Dependence 47 2.007
290
P ESS003 Essential Thrombocythemia 68 1.989
291
ACN002 Acanthosis Nigricans 56 1.961
292
P END046 Endometritis 46 1.958
293
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 44 1.881
294
LPG001 Lipogranulomatosis 29 1.877
295
VGN019 Vaginal Discharge 33 1.867
296
ALP011 Alpha-Ketoglutarate Dehydrogenase Deficiency 39 1.844
297
MCP033 Mucopolysaccharidoses 44 1.844
298
MSC193 Muscular Lipidosis 23 1.762
299
GNT167 Genetic Obesity 33 1.736
300
P RNL115 Renal Tubular Acidosis, Proximal 32 1.727
301
c VRL012 Viral Meningitis 46 1.655
302
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 1.621
303
CYN003 Cyanide Poisoning 22 1.603
304
GLM004 Gliomatosis Cerebri 51 1.602
305
P ANG001 Angelman Syndrome 64 1.587
306
HYP690 Hyper-Beta-Alaninemia 24 1.575
307
HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 26 1.480
308
c GLY004 Glycogen Storage Disease V 62 1.474
309
PTT046 Pituitary Hormone Deficiency, Combined, 2 62 1.460
310
PRX085 Preaxial Hallucal Polydactyly 28 1.456
311
P HYP050 Hyperinsulinemic Hypoglycemia 56 1.453
312
LNN001 Lennox-Gastaut Syndrome 61 1.421
313
FST010 Fasting Hypoglycemia 33 1.420
314
HYP006 Hypertensive Heart Disease 48 1.363
315
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 62 1.350
316
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 38 1.329
317
OHT001 Ohtahara Syndrome 39 1.284
318
EPD052 Epidermolysis Bullosa Simplex Superficialis 17 1.198
319
WRN003 Wernicke Encephalopathy 45 1.187
320
CRD001 Cardiac Tamponade 44 1.185
321
P NRM002 Normal Pressure Hydrocephalus 49 1.180
322
HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60 1.171
323
HYP026 Hypoglycemic Coma 37 1.128
324
MCR141 Mucormycosis 59 1.100
325
PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 54 1.069
326
MTC205 Mitochondrial Complex Iv Deficiency, Nuclear Type 1 57 1.052
327
GLN002 Glanders 38 1.041
328
P HRD217 Hereditary Optic Neuropathy 36 1.035
329
PRS127 Pearson Marrow-Pancreas Syndrome 51 1.023
330
CNG506 Congenital Amyoplasia 27 0.967
331
DNC004 Diencephalic Syndrome 36 0.941
332
LBR038 Leber Hereditary Optic Neuropathy, Modifier of 62 0.939
333
P SLV027 Silver-Russell Syndrome 1 52 0.924
334
MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp 24 0.847
335
DBT090 Diabetes and Deafness, Maternally Inherited 44 0.767
336
CYC008 Cyclic Vomiting Syndrome 46 0.767
337
P CRN015 Cornelia De Lange Syndrome 67 0.767
338
c CRN139 Cornelia De Lange Syndrome 1 61 0.758
339
FRC001 Fructose-1,6-Bisphosphatase Deficiency 50 0.750
340
NCL011 Nuclear Gene-Encoded Leigh Syndrome Spectrum 21 0.719
341
SBS004 Substance Dependence 46 0.707
342
ATN021 Autoinflammatory Syndrome 30 0.707
343
c ACT076 Acute Myocarditis 46 0.677
344
MTH011 Methionine Adenosyltransferase Deficiency 18 0.671
345
P DST002 Distal Arthrogryposis 63 0.528
346
WLL006 Wells Syndrome 49 0.524
347
DSR072 Disorder of Energy Metabolism 10 0.509
348
P MLT007 Multiple Epiphyseal Dysplasia 56 0.501
349
EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 55 0.499
350
2MT002 2-Methylacetoacetyl Coa Thiolase Deficiency 8 0.499
352
MCK007 Muckle-Wells Syndrome 64 0.481
353
P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 39 0.294
354
P ATM020 Autoimmune Enteropathy 34 0.249
355
SVR055 Severe Immune-Mediated Enteropathy 22 0.249
356
MCR025 Microhydranencephaly 33 0.243
357
P FML052 Familial Cold Autoinflammatory Syndrome 59 0.212
358
ACT239 Acetyl-Coa Acetyltransferase-2 Deficiency 21 0.203
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