Search results for Tetrahydrobiopterin

520 hits were found for Tetrahydrobiopterin

# Family MCID Name MIFTS Score
1
TTR005 Tetrahydrobiopterin Deficiency 49 44.566
2
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 32 23.072
3
TTR020 Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 7 22.680
4
P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 44 21.454
5
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 59 20.890
6
c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 35 19.484
7
PHN003 Phenylketonuria 76 14.643
8
HYP141 Hyperphenylalaninemia 42 11.949
9
P VSC007 Vascular Disease 62 6.304
10
P DYS154 Dystonia 64 4.826
11
CLS049 Classic Phenylketonuria 34 3.779
12
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 57 3.730
13
MLD011 Mild Hyperphenylalaninemia 24 3.493
14
c HYP836 Hypercholesterolemia, Familial, 1 73 3.405
15
GTP002 Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia 17 3.332
16
ATH013 Atherosclerosis Susceptibility 63 3.181
17
HYP266 Hypoxia 56 3.159
18
TXC005 Toxic Shock Syndrome 61 2.991
19
ART140 Arteries, Anomalies of 52 2.974
20
P PRK039 Parkinsonism 55 2.936
21
P PHC003 Pheochromocytoma 70 2.872
22
ADR040 Adrenal Gland Pheochromocytoma 45 2.872
23
c HYP595 Hypertension, Essential 84 2.839
24
DYS192 Dystonia, Dopa-Responsive 56 2.796
25
CYT002 Cytokine Deficiency 43 2.755
26
PRP027 Peripheral Vascular Disease 71 2.750
27
PRP080 Peripheral Artery Disease 54 2.750
28
ISC004 Ischemia 61 2.714
29
P PLM037 Pulmonary Hypertension 69 2.614
30
P ATS364 Autism 72 2.552
31
P SCH015 Schizophrenia 74 2.537
32
P NRB001 Neuroblastoma 66 2.441
33
c CHR684 Chronic Kidney Disease 73 2.253
34
INT002 Intermittent Claudication 61 2.249
35
ART016 Aortic Aneurysm 68 2.157
36
c ATS007 Autism Spectrum Disorder 71 2.101
37
P MVM001 Movement Disease 61 2.039
38
P PRK057 Parkinson Disease, Late-Onset 79 2.037
39
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 1.993
40
ANR040 Aneurysm 60 1.993
41
ATS010 Autosomal Recessive Disease 42 1.974
42
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 1.963
43
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 1.963
44
P KDN018 Kidney Disease 71 1.938
45
c INH020 Inherited Metabolic Disorder 47 1.905
46
c MCR133 Microvascular Complications of Diabetes 4 41 1.851
47
c MCR113 Microvascular Complications of Diabetes 3 52 1.851
48
c MCR130 Microvascular Complications of Diabetes 6 41 1.851
49
c MCR120 Microvascular Complications of Diabetes 7 47 1.851
50
P HYP265 Hypotonia 42 1.845
51
CRB037 Cerebral Palsy 66 1.833
52
P CHR345 Chronic Pain 50 1.793
53
c PLM164 Pulmonary Hypertension, Primary, 1 75 1.765
54
GST037 Gastroparesis 52 1.765
55
LPP008 Lipoprotein Quantitative Trait Locus 65 1.706
56
IMP005 Impotence 52 1.682
57
SGW002 Segawa Syndrome, Autosomal Recessive 44 1.662
58
LSC001 Lesch-Nyhan Syndrome 62 1.657
59
MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 31 1.636
60
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.588
61
HMC014 Homocysteinemia 52 1.559
62
ACT098 Acute Erythroid Leukemia 55 1.528
63
CRB090 Cerebral Hypoxia 42 1.497
64
HYP066 Hyperglycemia 60 1.481
65
PRT013 Portal Hypertension 59 1.481
66
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 1.457
67
P ENC018 Encephalopathy 62 1.453
68
END086 End Stage Renal Disease 54 1.448
69
P DBT009 Diabetes Mellitus 67 1.428
70
PRT251 Proteinuria, Chronic Benign 58 1.416
71
HYP020 Hyperprolactinemia 63 1.400
72
P ALZ034 Alzheimer Disease 87 1.389
73
VLK001 Volkmann Contracture 23 1.380
74
c PRC016 Pre-Eclampsia 64 1.363
75
ALL029 Allergic Disease 61 1.341
76
HMD003 Hemidystonia 28 1.283
77
FBR012 Fabry Disease 71 1.283
78
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 1.268
79
HYP781 Hypoascorbemia 52 1.268
80
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 1.268
81
KRT002 Keratomalacia 54 1.268
82
48X005 48,xyyy 39 1.268
83
MLR004 Malaria 77 1.245
84
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62 1.220
85
P HRT032 Heart Disease 84 1.220
86
HYP264 Hypertonia 35 1.204
87
P HPT023 Hepatocellular Carcinoma 95 1.192
88
P SDR002 Siderosis 42 1.167
89
SPR066 Superficial Siderosis 42 1.167
90
GLC003 Glucose Intolerance 53 1.161
91
PRT036 Peritonitis 65 1.152
92
P MCR010 Microcephaly 59 1.133
93
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 1.113
94
c LKM005 Leukemia, T-Cell, Chronic 33 1.113
95
PLM129 Pulmonary Disease, Chronic Obstructive 74 1.097
96
CRB004 Cerebral Artery Occlusion 45 1.092
97
HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 23 1.082
98
MDD011 Mood Disorder 61 1.072
99
AGN016 Aging 53 1.069
100
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.044
101
GST033 Gestational Diabetes 60 1.044
102
P ECL001 Eclampsia 52 1.016
103
LNG099 Lung Disease 62 1.013
104
P LVR013 Liver Disease 68 0.985
105
PYL006 Pyloric Stenosis 48 0.985
106
GLM045 Glioma 62 0.985
107
GLL048 Glial Tumor 51 0.985
108
MSC157 Muscular Dystrophy, Duchenne Type 78 0.958
109
MSC152 Muscular Dystrophy, Becker Type 69 0.958
110
CHL014 Cholera 62 0.958
111
MSC012 Muscular Dystrophy, Duchenne and Becker Type 33 0.958
112
P MSC005 Muscular Dystrophy 66 0.958
113
ANX004 Anoxia 40 0.958
114
P CRD119 Cardiac Arrest 68 0.948
115
c ACR091 Aicardi-Goutieres Syndrome 4 35 0.924
116
HRT015 Heritable Pulmonary Arterial Hypertension 46 0.904
117
P MCH002 Machado-Joseph Disease 62 0.899
118
c ACT071 Acute Kidney Failure 60 0.899
119
P PRV006 Pervasive Developmental Disorder 52 0.897
120
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 0.897
121
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 0.897
122
RHB024 Rhabdomyosarcoma 2 65 0.897
123
LVR012 Liver Cirrhosis 62 0.884
124
c FML021 Familial Hypercholesterolemia 71 0.884
125
c HRD198 Hereditary Dystonia 29 0.874
126
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.867
127
P BRS044 Breast Adenocarcinoma 58 0.863
128
P CRD246 Cardiovascular System Disease 55 0.863
129
P TYR004 Tyrosinemia 49 0.847
130
P CRN300 Coronary Heart Disease 1 73 0.840
131
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 0.840
132
PLC005 Placental Insufficiency 55 0.840
133
P RTT002 Rett Syndrome 79 0.816
134
c TYP009 Type 2 Diabetes Mellitus 91 0.815
135
FBR047 Fibromyalgia 57 0.815
136
P MYC007 Myocardial Infarction 69 0.787
137
LMB062 Limb Ischemia 55 0.787
138
CHR066 Chronic Fatigue Syndrome 59 0.787
139
DSR074 Disorder of Purine Metabolism 24 0.787
140
PLY028 Polycystic Bone Disease 17 0.778
141
CLT003 Colitis 63 0.756
142
ALC007 Alcohol Dependence 65 0.756
143
TRN018 Transitional Cell Carcinoma 56 0.756
144
MLY001 Molybdenum Cofactor Deficiency 40 0.756
145
BRN004 Brain Edema 54 0.756
146
c ACT075 Acute Myocardial Infarction 55 0.756
147
P FML187 Familial Hypertension 34 0.756
148
DWR001 Dwarfism 44 0.756
149
BRN071 Brain Injury 50 0.756
150
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.750
151
ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 55 0.730
152
OCL066 Oculogyric Crisis 35 0.730
153
P BRS047 Breast Cancer 97 0.730
154
P SZR006 Seizure Disorder 69 0.730
155
WTH001 Withdrawal Disorder 47 0.719
156
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 0.719
157
P XNT004 Xanthinuria 38 0.719
158
c PYL018 Pyloric Stenosis, Infantile Hypertrophic, 1 35 0.719
159
CYS001 Cystic Fibrosis 77 0.719
160
MTH040 Methylmalonyl-Coa Epimerase Deficiency 27 0.719
161
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 0.719
162
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.719
163
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.719
164
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.719
165
ANX010 Anxiety 70 0.719
166
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.719
167
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.719
168
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.719
169
c XNT010 Xanthinuria, Type I 52 0.719
170
c TYP008 Type 1 Diabetes Mellitus 77 0.719
171
P LKM062 Leukemia, Acute Lymphoblastic 69 0.719
172
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.719
173
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 0.719
174
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.719
175
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.719
176
RBS001 Rabies 57 0.719
177
PNM001 Pneumocystosis 60 0.719
178
RTN020 Retinal Vascular Disease 45 0.719
179
BCT022 Bacterial Infectious Disease 55 0.719
180
MLT001 Multiple Chemical Sensitivity 38 0.719
181
P HYP009 Hypertrophic Pyloric Stenosis 41 0.719
182
P SCK005 Sickle Cell Disease 56 0.719
183
c HRD142 Hereditary Xanthinuria 44 0.719
184
DST006 Diastolic Heart Failure 45 0.719
185
PNG002 Pain Agnosia 51 0.670
186
PLM134 Pulmonary Fibrosis, Idiopathic 76 0.670
187
P RHM011 Rheumatoid Arthritis 81 0.670
188
c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 39 0.670
189
CRY035 Cryptorchidism, Unilateral or Bilateral 57 0.670
190
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 0.670
191
c SCL052 Scleroderma, Familial Progressive 60 0.670
192
P RTN024 Retinoblastoma 72 0.670
193
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.670
194
c EXD008 Exudative Vitreoretinopathy 1 71 0.670
195
c TYP037 Type 1 Diabetes Mellitus 13 20 0.670
196
SCH018 Schizencephaly 52 0.670
197
RST023 Resting Heart Rate, Variation in 40 0.670
198
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.670
199
MSC007 Muscle Hypertrophy 64 0.670
200
ENT011 Enterocolitis 55 0.670
201
P PLT029 Platelet Groups--Ko System 15 0.670
202
ATM095 Autoimmune Disease 61 0.670
203
THR024 Thrombosis 56 0.670
204
VGN023 Vaginitis 56 0.670
205
IMM001 Immune-Complex Glomerulonephritis 36 0.670
206
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.670
207
P GLM007 Glomerulonephritis 59 0.670
208
P SYP003 Syphilis 59 0.670
209
P PLM036 Pulmonary Fibrosis 65 0.670
210
TST015 Testicular Disease 42 0.670
211
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.670
212
P PNC025 Panic Disorder 52 0.670
213
c VRL007 Viral Encephalitis 50 0.670
214
MTC005 Mitochondrial Metabolism Disease 44 0.670
215
PLC008 Placenta Disease 48 0.670
216
P BCL017 B-Cell Lymphoma 57 0.670
217
DBT010 Diabetic Neuropathy 54 0.670
218
PRN019 Perinatal Necrotizing Enterocolitis 60 0.670
219
ABS003 Absence of Septum Pellucidum 18 0.670
220
47X002 47,xyy 47 0.670
221
PTT041 Pituitary Stalk Interruption Syndrome 54 0.670
222
ACT162 Acute Sensory Ataxic Neuropathy 24 0.670
223
SCH003 Schizophreniform Disorder 54 0.634
224
P TRN020 Turner Syndrome 67 0.634
225
NTR005 Nutritional Deficiency Disease 60 0.634
226
PSY004 Psychotic Disorder 66 0.634
227
CRB009 Cerebritis 43 0.633
228
END072 Endotheliitis 36 0.633
229
SXL003 Sexual Disorder 49 0.613
230
MLT132 Multifocal Dystonia 21 0.613
231
CRV043 Cervical Dystonia 46 0.613
232
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 0.613
233
PPL049 Papillon-Lefevre Syndrome 65 0.613
234
c GLY008 Glycogen Storage Disease Ii 72 0.613
235
c MJR008 Major Affective Disorder 2 34 0.613
237
c HYP272 Hypercholesterolemia, Familial, 3 46 0.613
238
c VNM003 Van Maldergem Syndrome 1 50 0.613
239
ADR023 Adrenomyodystrophy 32 0.613
240
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.613
241
c CTS041 Cutis Laxa, Autosomal Dominant 3 46 0.613
242
c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43 0.613
243
LWC002 Lowe Oculocerebrorenal Syndrome 68 0.613
244
ARG007 Argininemia 58 0.613
245
c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 46 0.613
246
c CTS031 Cutis Laxa, Autosomal Dominant 2 41 0.613
247
PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 50 0.613
248
GLT019 Glut1 Deficiency Syndrome 2 40 0.613
249
c PTT056 Pituitary Adenoma 1, Multiple Types 53 0.613
250
ADL002 Adult Syndrome 69 0.613
251
c HYP210 Hypomagnesemia 2, Renal 42 0.613
252
P VND007 Van Der Woude Syndrome 1 60 0.613
253
P RNV001 Renovascular Hypertension 48 0.613
254
HYP085 Hypothalamic Disease 38 0.613
255
P EPL164 Epilepsy 70 0.613
256
SPS003 Spastic Diplegia 52 0.613
257
PTT003 Pituitary-Dependent Cushing's Disease 39 0.613
258
CHR034 Chromophobe Adenoma 35 0.613
259
VSL002 Visual Epilepsy 39 0.613
260
PTT004 Pituitary Apoplexy 46 0.613
261
TXC002 Toxic Encephalopathy 51 0.613
262
EMP001 Empty Sella Syndrome 41 0.613
263
TSH001 Tsh Producing Pituitary Tumor 41 0.613
264
PTT001 Pituitary Hypoplasia 34 0.613
265
FBR083 Fibrous Dysplasia/mccune-Albright Syndrome 27 0.613
266
PTT037 Pituitary Tumors 44 0.613
267
PRX086 Paroxysmal Exertion-Induced Dyskinesia 29 0.613
268
GGN002 Gigantism 32 0.613
269
ISL119 Isolated Optic Neuritis 27 0.613
270
ADN064 Adenohypophysitis 34 0.613
271
PLM116 Pulmonary Artery Hypoplasia 21 0.613
272
HDN002 Head Injury 44 0.613
273
c PLM121 Pulmonary Hypertension, Primary, 4 28 0.553
274
DPR016 Depression 64 0.453
275
P MJR001 Major Depressive Disorder 68 0.437
276
MNT002 Mental Depression 56 0.421
277
P DRR001 Diarrhea 55 0.405
278
P BPL003 Bipolar Disorder 56 0.331
279
P TRM003 Tremor 50 0.331
280
c MJR022 Major Affective Disorder 8 37 0.309
281
c MJR024 Major Affective Disorder 9 40 0.309
282
c ATR087 Atrial Standstill 1 74 0.309
283
SPS057 Spasticity 43 0.309
284
c PRK090 Parkinson Disease 3, Autosomal Dominant 38 0.234
285
P BND020 Bone Disease 60 0.234
286
HYP060 Hyperinsulinism 53 0.234
287
LPD008 Lipid Metabolism Disorder 61 0.234
288
CNG034 Congestive Heart Failure 69 0.234
289
DSS008 Disease of Mental Health 74 0.234
290
P SLP005 Sleep Disorder 61 0.234
291
P HMC002 Homocystinuria 52 0.234
292
P MYC033 Myoclonus 46 0.234
293
RNL077 Renal Fibrosis 46 0.202
294
DWN001 Down Syndrome 70 0.202
295
P MJR007 Major Affective Disorder 1 42 0.202
296
GLL008 Gilles De La Tourette Syndrome 64 0.202
297
P RST001 Restless Legs Syndrome 52 0.202
298
c MCR115 Microvascular Complications of Diabetes 5 65 0.202
299
DPH001 Diphtheria 59 0.202
300
P GLY013 Glycogen Storage Disease 59 0.202
301
PLM010 Pulmonary Edema 54 0.202
302
P MYC008 Myocarditis 59 0.202
303
P MTC069 Mitochondrial Disorders 57 0.202
304
ATN005 Autonomic Dysfunction 45 0.202
305
TRM010 Traumatic Brain Injury 50 0.202
306
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.165
307
DFC004 Deficiency Anemia 74 0.165
308
P ATR001 Atrioventricular Septal Defect 54 0.165
309
ALP077 Alpha-Methylacetoacetic Aciduria 52 0.165
310
NRL016 Neural Tube Defects 80 0.165
311
BTN003 Biotinidase Deficiency 61 0.165
312
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70 0.165
313
P MPL001 Maple Syrup Urine Disease 69 0.165
314
DGR001 Digeorge Syndrome 62 0.165
315
EPL131 Epilepsy, Pyridoxine-Dependent 46 0.165
316
ADR007 Adrenoleukodystrophy 73 0.165
317
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 59 0.165
318
BRN045 Brunner Syndrome 52 0.165
319
P TRT019 Torticollis 47 0.165
320
TBL029 Tubulin, Beta 28 0.165
321
RBF001 Riboflavin Deficiency 49 0.165
322
CHR005 Chorioamnionitis 50 0.165
323
HMN047 Human Cytomegalovirus Infection 59 0.165
324
FCL022 Focal Dystonia 41 0.165
325
PNC001 Pancytopenia 52 0.165
326
P FBR017 Fibrosarcoma 55 0.165
327
HRT011 Heart Septal Defect 49 0.165
328
MCL006 Macular Retinal Edema 56 0.165
329
P EYD002 Eye Disease 57 0.165
330
CMP010 Complex Regional Pain Syndrome 59 0.165
331
DBL002 Double Outlet Right Ventricle 56 0.165
332
SCH012 Schizoaffective Disorder 49 0.165
333
IRN002 Iron Metabolism Disease 56 0.165
334
MGL001 Megaloblastic Anemia 59 0.165
335
P ANT006 Antiphospholipid Syndrome 55 0.165
336
CRV040 Cervix Carcinoma 50 0.165
337
P SKN015 Skin Carcinoma 71 0.165
338
c DLT002 Dilated Cardiomyopathy 79 0.165
339
P MLN008 Melanoma 75 0.165
340
P ART022 Arthritis 70 0.165
341
BSL008 Basal Ganglia Disease 41 0.165
342
ADR022 Adrenomyeloneuropathy 38 0.165
343
DBT006 Diabetic Macular Edema 48 0.165
344
INF065 Infantile Hypotonia 21 0.165
345
LPD009 Lipid Storage Disease 45 0.165
346
MYC005 Myocardial Stunning 45 0.165
347
ACY011 Acyl-Coa Dehydrogenase Deficiency 31 0.165
348
IDP093 Idiopathic Gastroparesis 28 0.165
349
ARG004 Argyria 26 0.165
350
MTH086 Methotrexate Toxicity 33 0.165
351
P HYP263 Hypersomnia 40 0.165
352
SPN186 Spinal Cord Injury 60 0.165
353
APR001 Apraxia 51 0.117
354
P SCL018 Scoliosis 57 0.117
355
P ATR011 Atrial Fibrillation 66 0.117
356
MTB004 Metabolic Acidosis 48 0.117
357
GLY010 Glycine Encephalopathy 57 0.117
358
P MTR004 Maturity-Onset Diabetes of the Young 66 0.117
359
P PTS002 Ptosis 52 0.117
360
P SLP006 Sleep Apnea 69 0.117
361
HYP003 Hypermethioninemia 51 0.117
362
c ART115 Aortic Valve Disease 1 72 0.117
363
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 54 0.117
364
CRN041 Carnitine-Acylcarnitine Translocase Deficiency 48 0.117
365
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 0.117
366
c LYM145 Lymphatic Malformation 5 48 0.117
367
OBS002 Obsessive-Compulsive Disorder 67 0.117
368
PPL052 Papillomatosis, Confluent and Reticulated 34 0.117
369
P ANT080 Antigen Defined by Monoclonal Antibody Aj9 18 0.117
370
c MGR028 Migraine with or Without Aura 1 63 0.117
371
P OVR042 Ovarian Cancer 88 0.117
372
OCL069 Ocular Motor Apraxia 57 0.117
373
P CRC039 Coarctation of Aorta 46 0.117
374
c FML116 Familial Cold Autoinflammatory Syndrome 1 55 0.117
375
c DYS191 Dystonia 1, Torsion, Autosomal Dominant 47 0.117
376
CRD132 Cardiac Conduction Defect 59 0.117
377
c 3MT015 3-Methylglutaconic Aciduria, Type I 51 0.117
378
P GLC113 Galactosemia I 65 0.117
379
c HYD046 Hydatidiform Mole, Recurrent, 1 59 0.117
380
c GLY003 Glycogen Storage Disease Iii 60 0.117
381
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 61 0.117
382
c OPT051 Opitz Gbbb Syndrome, Type I 45 0.117
383
SCK003 Sickle Cell Anemia 74 0.117
384
P CTR177 Citrullinemia, Type Ii, Adult-Onset 56 0.117
385
c ART067 Aortic Aneurysm, Familial Thoracic 1 61 0.117
386
c JVN061 Juvenile Arthritis 56 0.117
387
c CNG006 Congenital Hypothyroidism 63 0.117
388
VTM002 Vitamin B12 Deficiency 48 0.117
389
P GST053 Gastric Cancer 82 0.117
390
MLC004 Mulchandani-Bhoj-Conlin Syndrome 51 0.117
391
NRN005 Neuronal Ceroid-Lipofuscinoses 61 0.117
392
GBT001 Gaba-Transaminase Deficiency 37 0.117
393
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 40 0.117
394
HLX001 Helix Syndrome 47 0.117
395
P ACR001 Aicardi-Goutieres Syndrome 63 0.117
396
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 52 0.117
397
P LNG032 Lung Cancer 98 0.117
398
PBL005 Piebald Trait 60 0.117
399
c HMC039 Hemochromatosis, Type 1 73 0.117
400
HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 48 0.117
401
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57 0.117
402
MTC025 Mitochondrial Myopathy with Diabetes 24 0.117
403
P AST005 Asthma 75 0.117
404
P MYC084 Mycobacterium Tuberculosis 1 68 0.117
405
LPT014 Leptin Deficiency or Dysfunction 77 0.117
406
P HYP818 Hypobetalipoproteinemia, Familial, 1 60 0.117
407
HRN029 Hearing Loss, Noise-Induced 37 0.117
408
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.117
409
P ANG001 Angelman Syndrome 64 0.117
410
MRF001 Marfan Syndrome 76 0.117
411
CLF027 Cleft Palate, Isolated 64 0.117
412
P GLM040 Glioma Susceptibility 1 70 0.117
413
MLT157 Multiple System Atrophy 1 69 0.117
414
LNT004 Lentigines 45 0.117
415
ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 36 0.117
416
c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54 0.117
417
P KLZ004 Kala-Azar 1 41 0.117
418
TRY001 Trypanosomiasis 50 0.117
419
OST017 Osteomyelitis 63 0.117
420
BNR002 Bone Resorption Disease 47 0.117
421
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.117
422
MLD018 Mild Cognitive Impairment 48 0.117
423
END040 Endogenous Depression 54 0.117
424
HPT019 Hepatic Encephalopathy 59 0.117
425
P ART021 Arteriosclerosis 53 0.117
426
MLG169 Malignant Astrocytoma 57 0.117
427
c HRD010 Hereditary Spastic Paraplegia 65 0.117
428
GLB002 Glioblastoma 67 0.117
429
CNT047 Contact Dermatitis 56 0.117
430
KRT009 Keratosis 52 0.117
431
BRN014 Bronchopneumonia 52 0.117
432
P ALC033 Alcohol Use Disorder 67 0.117
433
MST004 Mast Cell Neoplasm 41 0.117
434
P HRM001 Hermansky-Pudlak Syndrome 65 0.117
435
ADR003 Adrenal Neuroblastoma 27 0.117
436
PRP016 Paraplegia 52 0.117
437
P LTR001 Lateral Sclerosis 57 0.117
438
MCR017 Macrocytic Anemia 44 0.117
439
CRB033 Cerebral Degeneration 36 0.117
440
P HYP086 Hypothyroidism 68 0.117
441
HYP006 Hypertensive Heart Disease 48 0.117
442
IRN001 Iron Deficiency Anemia 58 0.117
443
c HPT001 Hepatitis C 61 0.117
444
HMP005 Hemiplegia 53 0.117
445
ART004 Aortic Atherosclerosis 46 0.117
446
DRM006 Dermatitis 61 0.117
447
CNS004 Constipation 56 0.117
448
P MYP004 Myopathy 67 0.117
449
CRC021 Carcinosarcoma 62 0.117
450
INS001 Insulinoma 59 0.117
451
GLS001 Gliosarcoma 63 0.117
452
DMY004 Demyelinating Disease 50 0.117
453
P TRT010 Teratoma 50 0.117
454
GST010 Gestational Trophoblastic Neoplasm 52 0.117
455
EXT007 Extracutaneous Mastocytoma 38 0.117
456
URM002 Uremia 47 0.117
457
P PNC044 Pancreatitis 61 0.117
458
c ACT027 Acute Pancreatitis 60 0.117
459
CRN030 Coronary Stenosis 50 0.117
460
P ADL010 Adult Respiratory Distress Syndrome 70 0.117
461
NPH010 Nephrosclerosis 50 0.117
462
CRN017 Coronary Thrombosis 46 0.117
463
QDR001 Quadriplegia 49 0.117
464
CHR073 Choreatic Disease 53 0.117
465
RCK004 Rickets 64 0.117
466
P RNL015 Renal Hypertension 45 0.117
467
P MGR001 Migraine Without Aura 48 0.117
468
P MTH008 Methylmalonic Acidemia 52 0.117
469
ECH003 Echinococcosis 52 0.117
470
c BPL002 Bipolar I Disorder 47 0.117
471
P NRN021 Neuronal Ceroid Lipofuscinosis 64 0.117
472
P DMN002 Dementia 65 0.117
473
SLP001 Sleeping Sickness 56 0.117
474
PTT002 Potter's Syndrome 39 0.117
475
HPT004 Hepatic Coma 43 0.117
476
P LCT001 Lactic Acidosis 50 0.117
477
P MTR012 Mitral Valve Disease 57 0.117
478
c JVN010 Juvenile Rheumatoid Arthritis 52 0.117
479
ACH005 Achalasia 54 0.117
480
HTR003 Heterotaxy 43 0.117
481
ISL099 Isolated Methylmalonic Acidemia 35 0.117
483
AMN012 Aminoacidopathies 19 0.117
484
P NRC002 Narcolepsy 55 0.117
485
LSH001 Leishmaniasis 63 0.117
486
CLF001 Cleft Lip 54 0.117
487
TXC010 Toxic Myocarditis 23 0.117
488
DGN001 Degenerative Disc Disease 48 0.117
489
ULC004 Ulcerative Colitis 74 0.117
490
P PRD008 Periodontitis 63 0.117
491
PYR009 Pyridoxine Deficiency Anemia 35 0.117
492
HRP004 Herpes Zoster 60 0.117
493
P CLS010 Cluster Headache 42 0.117
494
MYL080 Myalgic Encephalomyelitis/chronic Fatigue Syndrome 32 0.117
495
OPS006 Opsoclonus-Myoclonus Syndrome 48 0.117
496
FTT001 Fatty Liver Disease 61 0.117
497
MLT018 Multiple Carboxylase Deficiency 45 0.117
498
VSC002 Vascular Dementia 59 0.117
499
ALL014 Allergic Encephalomyelitis 34 0.117
500
BNS003 Binswanger's Disease 41 0.117
501
GST050 Gastrointestinal System Disease 55 0.117
502
BCK006 Back Pain 43 0.117
503
P AMY004 Amyloidosis 69 0.117
504
PRT086 Partial Hydatidiform Mole 22 0.117
505
INT075 Intracranial Hypertension 52 0.117
506
IRR002 Irritable Bowel Syndrome 64 0.117
507
CHR178 Chromosomal Triplication 33 0.117
508
GRW007 Growth Hormone Deficiency 47 0.117
509
HYP056 Hypoglycemia 65 0.117
510
PHS018 Phosphorylase Kinase Deficiency 37 0.117
511
P ACT105 Acute Mountain Sickness 52 0.117
512
c ALM001 Al Amyloidosis 54 0.117
513
DMN026 Dementia Pugilistica 27 0.117
514
OCL015 Oculomotor Apraxia 39 0.117
515
MDR006 Moderate and Severe Traumatic Brain Injury 27 0.117
516
MST020 Mast Cell Activation Syndrome 27 0.117
517
DYS073 Dysphagia 53 0.117
518
P HDC001 Headache 56 0.117
519
PST092 Posttransplant Acute Limbic Encephalitis 29 0.117
520
CLF004 Cleft Lip/palate 56 0.117
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