Search results for Acetazolamide

569 hits were found for Acetazolamide

# Family MCID Name MIFTS Score
1
c EPS035 Episodic Ataxia, Type 2 63 7.419
2
MYT030 Myotonia, Potassium-Aggravated 45 7.348
3
c MYS064 Myasthenic Syndrome, Congenital, 16 32 5.760
4
P ACT105 Acute Mountain Sickness 52 0.372
5
MTB004 Metabolic Acidosis 50 0.265
6
INT323 Intraocular Pressure Quantitative Trait Locus 62 0.223
7
CRB039 Cerebrovascular Disease 67 0.211
8
P SLP006 Sleep Apnea 69 0.209
9
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.203
10
INT075 Intracranial Hypertension 53 0.197
11
HYP266 Hypoxia 57 0.194
12
MCL006 Macular Retinal Edema 55 0.185
13
PLM129 Pulmonary Disease, Chronic Obstructive 73 0.183
14
P HYD006 Hydrocephalus 66 0.183
15
c HYP595 Hypertension, Essential 84 0.171
16
P PRD021 Periodic Paralysis 45 0.168
17
P HDC001 Headache 57 0.155
18
P HRT032 Heart Disease 75 0.152
19
CNG034 Congestive Heart Failure 69 0.152
20
LNG099 Lung Disease 60 0.149
21
CRT013 Carotid Stenosis 50 0.149
22
c MGR028 Migraine with or Without Aura 1 67 0.144
23
PLM010 Pulmonary Edema 54 0.144
24
APN008 Apnea, Obstructive Sleep 64 0.141
25
P CTR002 Cataract 60 0.141
26
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59 0.141
27
P EPS003 Episodic Ataxia 59 0.137
28
P KDN018 Kidney Disease 72 0.134
29
INT303 Intracranial Hypertension, Idiopathic 57 0.134
30
c SPL067 Split-Hand/foot Malformation 1 46 0.131
31
ISL121 Isolated Split Hand-Split Foot Malformation 45 0.131
32
c CNT015 Central Sleep Apnea 45 0.124
33
P RSP003 Respiratory Failure 74 0.121
34
BRN004 Brain Edema 56 0.121
35
HYP005 Hypokalemia 55 0.121
36
P OPN001 Open-Angle Glaucoma 49 0.121
37
P EPL164 Epilepsy 71 0.117
38
P MYM013 Moyamoya Disease 1 57 0.117
39
HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 53 0.117
40
PTH003 Pathologic Nystagmus 52 0.117
41
P PLM037 Pulmonary Hypertension 67 0.113
42
P HYP370 Hypokalemic Periodic Paralysis, Type 1 64 0.113
43
MYT011 Myotonia 34 0.113
44
STR067 Stroke, Ischemic 81 0.110
45
PPL021 Papilledema 49 0.110
46
P MYP006 Myopia 55 0.106
47
P NRM002 Normal Pressure Hydrocephalus 54 0.106
48
OCL006 Ocular Hypertension 53 0.106
49
JNT004 Joint Laxity, Short Stature, and Myopia 45 0.106
50
c CHR546 Chronic Mountain Sickness 43 0.106
51
P RTN008 Retinitis Pigmentosa 79 0.102
52
P OPT006 Optic Nerve Disease 60 0.102
53
RTN023 Retinitis 46 0.102
54
NRR001 Neuroretinitis 42 0.102
55
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 0.097
56
DFC004 Deficiency Anemia 70 0.097
57
ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 67 0.097
58
P UVT001 Uveitis 57 0.097
59
P SZR006 Seizure Disorder 56 0.097
60
c BDY021 Body Mass Index Quantitative Trait Locus 20 52 0.097
61
CRT016 Carotid Artery Disease 52 0.097
62
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.097
63
c BDY005 Body Mass Index Quantitative Trait Locus 9 48 0.097
64
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.097
65
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.097
66
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.097
67
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.097
68
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.097
69
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.097
70
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.097
71
CNT097 Central Hypoventilation Syndrome, Congenital 71 0.093
72
P ART005 Arteriovenous Malformation 65 0.093
73
ISC004 Ischemia 58 0.093
74
ART140 Arteries, Anomalies of 52 0.093
75
DWN001 Down Syndrome 70 0.088
76
P MCR115 Microvascular Complications of Diabetes 5 66 0.088
77
TRN015 Transient Cerebral Ischemia 63 0.088
78
c ACT071 Acute Kidney Failure 60 0.088
79
P FML023 Familial Hemiplegic Migraine 53 0.088
80
48X005 48,xyyy 39 0.088
81
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.088
83
P VSC007 Vascular Disease 63 0.083
84
c GLC092 Glaucoma, Primary Open Angle 62 0.083
85
HYP052 Hyperkalemic Periodic Paralysis 61 0.083
86
VSL002 Visual Epilepsy 59 0.083
87
VSC002 Vascular Dementia 57 0.083
88
P RNL007 Renal Tubular Acidosis 51 0.083
89
CRT015 Carotid Artery Occlusion 45 0.083
90
P APL001 Aplastic Anemia 74 0.078
91
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70 0.078
92
P LVR013 Liver Disease 68 0.078
93
P BLD124 Bleeding Disorder, Platelet-Type, 11 63 0.078
94
RTN017 Retinal Detachment 61 0.078
95
ERY003 Erythema Multiforme 58 0.078
96
P PLY018 Polycythemia 56 0.078
97
NPH009 Nephrolithiasis 55 0.078
99
BNR002 Bone Resorption Disease 48 0.078
100
c CNG216 Congenital Hydrocephalus 47 0.078
101
LPT014 Leptin Deficiency or Dysfunction 74 0.072
102
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69 0.072
103
SVR097 Severe Cutaneous Adverse Reaction 69 0.072
104
P DMN002 Dementia 66 0.072
105
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.072
106
RTN209 Retinoschisis 1, X-Linked, Juvenile 62 0.072
107
ANR040 Aneurysm 59 0.072
108
P GST044 Gastritis 56 0.072
109
GST023 Gastric Ulcer 53 0.072
110
NPH003 Nephrocalcinosis 51 0.072
111
END086 End Stage Renal Disease 51 0.072
112
MCL027 Macular Dystrophy, Dominant Cystoid 50 0.072
113
CLC006 Calcinosis 48 0.072
114
HYP025 Hyperphosphatemia 48 0.072
115
CMP034 Complete Androgen Insensitivity Syndrome 46 0.072
116
OBS037 Obesity-Hypoventilation Syndrome 46 0.072
117
CRB004 Cerebral Artery Occlusion 45 0.072
118
URL001 Urolithiasis 45 0.072
119
CRB079 Cerebrospinal Fluid Leak 35 0.072
120
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 32 0.072
121
ERY066 Erythema Multiforme Major 30 0.072
122
SCK003 Sickle Cell Anemia 74 0.066
123
P MNN013 Meningitis 66 0.066
124
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 65 0.066
125
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.066
126
LVR012 Liver Cirrhosis 62 0.066
127
NPH091 Nephrolithiasis, Calcium Oxalate 60 0.066
128
P ATS308 Autosomal Dominant Cerebellar Ataxia 60 0.066
129
STT001 Status Epilepticus 60 0.066
130
P SLP005 Sleep Disorder 59 0.066
131
HLC007 Helicobacter Pylori Infection 59 0.066
132
HMP005 Hemiplegia 55 0.066
133
FCL014 Focal Epilepsy 54 0.066
134
PNG002 Pain Agnosia 51 0.066
135
RSP006 Respiratory System Disease 50 0.066
136
BRN071 Brain Injury 49 0.066
137
P RTN014 Retinal Artery Occlusion 47 0.066
138
LND001 Landau-Kleffner Syndrome 44 0.066
139
c BDY007 Body Mass Index Quantitative Trait Locus 1 42 0.066
140
PRS063 Paresthesia 41 0.066
141
BRN026 Branch Retinal Artery Occlusion 40 0.066
142
OPT010 Optic Papillitis 38 0.066
143
MST020 Mast Cell Activation Syndrome 26 0.066
144
c ATM006 Autoimmune Lymphoproliferative Syndrome 74 0.059
145
c CHR684 Chronic Kidney Disease 70 0.059
146
c RHB024 Rhabdomyosarcoma 2 67 0.059
147
c DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66 0.059
148
P DYS154 Dystonia 65 0.059
149
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 0.059
150
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 64 0.059
151
MSC007 Muscle Hypertrophy 64 0.059
152
P GLM045 Glioma 63 0.059
153
DPR016 Depression 63 0.059
154
LPD008 Lipid Metabolism Disorder 62 0.059
155
P PSR002 Psoriasis 62 0.059
156
ALL026 Allergic Hypersensitivity Disease 62 0.059
157
c EPS042 Episodic Ataxia, Type 1 60 0.059
158
P SPN309 Spinocerebellar Ataxia 6 59 0.059
159
PRM057 Paramyotonia Congenita of Von Eulenburg 58 0.059
160
P EXN002 Exanthem 57 0.059
161
P FCL005 Focal Segmental Glomerulosclerosis 57 0.059
162
AYM001 Ayme-Gripp Syndrome 57 0.059
163
P MYT023 Myotonia Congenita 56 0.059
164
P DBT005 Diabetes Insipidus 55 0.059
165
P TRM003 Tremor 54 0.059
166
P RTN018 Retinal Disease 53 0.059
167
PRP016 Paraplegia 52 0.059
168
PST011 Pustulosis of Palm and Sole 52 0.059
169
P BRT004 Bartter Disease 52 0.059
170
P DDN001 Duodenal Ulcer 52 0.059
171
OCL069 Ocular Motor Apraxia 51 0.059
172
P LCT001 Lactic Acidosis 51 0.059
173
P SCK005 Sickle Cell Disease 50 0.059
174
c FCL025 Focal Segmental Glomerulosclerosis 1 46 0.059
175
GLL048 Glial Tumor 45 0.059
176
P CRN026 Corneal Edema 43 0.059
177
c CNT028 Central Retinal Artery Occlusion 43 0.059
178
RDN001 Reading Disorder 40 0.059
179
CNT060 Central Serous Chorioretinopathy 38 0.059
180
PRX097 Paroxysmal Dystonia 32 0.059
181
NRL016 Neural Tube Defects 82 0.051
182
P GLM040 Glioma Susceptibility 1 81 0.051
183
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.051
184
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.051
185
OST012 Osteoarthritis 78 0.051
186
P CNR004 Cone-Rod Dystrophy 2 73 0.051
187
P MYP004 Myopathy 70 0.051
188
P ART022 Arthritis 69 0.051
189
P OCL013 Oculodentodigital Dysplasia 69 0.051
190
ART016 Aortic Aneurysm 69 0.051
191
BRN024 Bronchitis 68 0.051
192
P THR014 Thrombocytopenia 67 0.051
193
KHL003 Kohlschutter-Tonz Syndrome 65 0.051
194
LPP008 Lipoprotein Quantitative Trait Locus 62 0.051
195
P ENC018 Encephalopathy 61 0.051
196
P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 61 0.051
197
P ART067 Aortic Aneurysm, Familial Thoracic 1 61 0.051
198
P NPH012 Nephrotic Syndrome 60 0.051
199
c ART138 Aortic Aneurysm, Familial Abdominal, 1 59 0.051
200
HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 59 0.051
201
MNT002 Mental Depression 58 0.051
202
P GLM007 Glomerulonephritis 57 0.051
203
MNR012 Meniere Disease 57 0.051
204
THR024 Thrombosis 57 0.051
205
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 57 0.051
206
P BPL003 Bipolar Disorder 56 0.051
207
FND002 Fundus Dystrophy 55 0.051
208
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.051
209
CYS005 Cysticercosis 53 0.051
210
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 53 0.051
211
P MGR003 Migraine with Aura 52 0.051
212
c INH030 Inherited Retinal Disorder 51 0.051
213
TRM010 Traumatic Brain Injury 51 0.051
214
P AST007 Astrocytoma 51 0.051
215
c INF145 Infantile Liver Failure Syndrome 1 50 0.051
216
OPT003 Opiate Dependence 50 0.051
217
AMB002 Amblyopia 49 0.051
218
47X002 47,xyy 49 0.051
219
QDR001 Quadriplegia 48 0.051
220
NRL018 Neural Tube Defects, Folate-Sensitive 48 0.051
221
CCN001 Cocaine Dependence 48 0.051
222
c HYD064 Hydrocephalus, Congenital, 1 48 0.051
223
c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 47 0.051
224
P CLB034 Coloboma, Ocular, Autosomal Dominant 47 0.051
225
KRT002 Keratomalacia 47 0.051
226
STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 47 0.051
227
OST062 Osteoarthritis with Mild Chondrodysplasia 47 0.051
228
P MYC033 Myoclonus 46 0.051
229
HDN002 Head Injury 46 0.051
230
OPD001 Opioid Abuse 46 0.051
231
c MLG068 Malignant Glioma 46 0.051
232
RTR008 Root Resorption 45 0.051
233
MXD026 Mixed Glioma 45 0.051
234
BRN032 Brain Glioma 45 0.051
235
TNS007 Taeniasis 45 0.051
236
IRT001 Iritis 44 0.051
237
EMP001 Empty Sella Syndrome 44 0.051
238
CVD001 Covid-19 44 0.051
239
IDP033 Idiopathic Edema 44 0.051
240
RFR003 Refractive Error 43 0.051
241
PLY068 Polysubstance Abuse 43 0.051
242
TRP009 Triple X Syndrome 42 0.051
243
ATX019 Ataxia with Vitamin E Deficiency 42 0.051
244
c SZR022 Seizures, Benign Familial Neonatal, 1 42 0.051
245
c MJR024 Major Affective Disorder 9 41 0.051
246
SPR126 Superior Semicircular Canal Dehiscence 40 0.051
247
PRM024 Primary Angle-Closure Glaucoma 40 0.051
248
SPN221 Spina Bifida Occulta 39 0.051
249
SPP007 Suppression Amblyopia 39 0.051
250
c PLM022 Pulmonary Valve Insufficiency 39 0.051
251
c HMG029 Hemoglobin Se Disease 39 0.051
252
ARC025 Arachnoid Cysts, Intracranial 38 0.051
253
c MJR022 Major Affective Disorder 8 38 0.051
254
c HYP606 Hypokalemic Periodic Paralysis, Type 2 37 0.051
255
P PRD017 Periodic Paralyses 25 0.051
256
CNT063 Continuous Spike-Wave During Slow Sleep Syndrome 18 0.051
257
P LNG032 Lung Cancer 98 0.041
258
P ALZ034 Alzheimer Disease 88 0.041
259
c SYS001 Systemic Lupus Erythematosus 86 0.041
260
P GST053 Gastric Cancer 83 0.041
261
GLB015 Glioblastoma Multiforme 75 0.041
262
P HYP724 Hyperlipoproteinemia, Type Iii 73 0.041
263
P MLT020 Multiple Sclerosis 72 0.041
264
P OST001 Osteopetrosis 70 0.041
265
P TRN020 Turner Syndrome 67 0.041
266
c SML038 Small Cell Cancer of the Lung 65 0.041
267
P DBT009 Diabetes Mellitus 64 0.041
268
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 64 0.041
269
GT001 Gout 64 0.041
270
ACT119 Acute Promyelocytic Leukemia 63 0.041
271
P PTT014 Pitt-Hopkins Syndrome 63 0.041
272
c ALP101 Alpha-Thalassemia 62 0.041
273
c SVR001 Severe Acute Respiratory Syndrome 62 0.041
274
P ORT004 Orthostatic Intolerance 62 0.041
275
HYP066 Hyperglycemia 61 0.041
276
DRM006 Dermatitis 61 0.041
277
P ENC004 Encephalitis 61 0.041
278
P MYL006 Myeloid Leukemia 60 0.041
279
P KDN017 Kidney Cancer 60 0.041
280
STR039 Sturge-Weber Syndrome 60 0.041
281
P THL005 Thalassemia 60 0.041
282
PRT058 Pure Autonomic Failure 59 0.041
283
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.041
284
CNS004 Constipation 58 0.041
285
IRN002 Iron Metabolism Disease 57 0.041
286
APH002 Aphasia 57 0.041
287
ENH001 Enhanced S-Cone Syndrome 57 0.041
288
c ESS001 Essential Tremor 56 0.041
289
P NRP001 Neuropathy 56 0.041
290
P PSD015 Pseudohypoparathyroidism 56 0.041
291
NRN004 Neuroendocrine Tumor 55 0.041
292
P DRR001 Diarrhea 55 0.041
293
c OST163 Osteopetrosis, Autosomal Recessive 3 55 0.041
294
P PMP001 Pemphigus 54 0.041
295
AMN003 Amnestic Disorder 54 0.041
296
P ART021 Arteriosclerosis 54 0.041
297
HMS001 Hemosiderosis 54 0.041
298
PNC001 Pancytopenia 54 0.041
299
P END047 Endophthalmitis 53 0.041
300
P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53 0.041
301
CLF001 Cleft Lip 53 0.041
302
c XNT010 Xanthinuria, Type I 53 0.041
303
P PNC025 Panic Disorder 53 0.041
304
P RTN022 Retinal Vein Occlusion 53 0.041
305
c GLL024 Gallbladder Disease 1 53 0.041
306
c MCR113 Microvascular Complications of Diabetes 3 52 0.041
307
OST011 Osteomalacia 52 0.041
308
HYP014 Hyperuricemia 52 0.041
309
c MGR032 Migraine, Familial Hemiplegic, 1 51 0.041
310
LNG031 Lung Benign Neoplasm 51 0.041
311
SCH012 Schizoaffective Disorder 50 0.041
312
P MYT002 Myotonic Dystrophy 49 0.041
313
SYS003 Systolic Heart Failure 49 0.041
314
URM002 Uremia 49 0.041
315
CRY014 Cryptococcal Meningitis 48 0.041
316
DBT006 Diabetic Macular Edema 48 0.041
317
TBR011 Tuberculous Meningitis 48 0.041
318
SXL003 Sexual Disorder 47 0.041
319
c MCR120 Microvascular Complications of Diabetes 7 47 0.041
320
KHN001 Kuhnt-Junius Degeneration 47 0.041
321
RTN020 Retinal Vascular Disease 46 0.041
322
P THY054 Thyrotoxic Periodic Paralysis 46 0.041
323
GRW007 Growth Hormone Deficiency 46 0.041
324
c DRR009 Diarrhea 6 46 0.041
325
ANR004 Anuria 46 0.041
326
P HYP733 Hypercalciuria, Absorptive, 2 45 0.041
327
PST048 Postural Orthostatic Tachycardia Syndrome 45 0.041
328
ASP026 Asplenia, Isolated Congenital 44 0.041
329
SBC016 Subacute Delirium 44 0.041
330
GRN017 Granulocytopenia 44 0.041
331
FML091 Familial Tumoral Calcinosis 44 0.041
332
c FML036 Familial Periodic Paralysis 44 0.041
333
c ORT011 Orthostatic Hypotension 1 44 0.041
334
IDP073 Idiopathic Hypercalciuria 43 0.041
335
BNS003 Binswanger's Disease 42 0.041
336
P DST107 Distal Renal Tubular Acidosis 42 0.041
337
c MCR130 Microvascular Complications of Diabetes 6 41 0.041
338
c MCR133 Microvascular Complications of Diabetes 4 41 0.041
339
P RRH023 Rare Hereditary Hemochromatosis 41 0.041
340
NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 41 0.041
341
CRB086 Cerebral Aneurysms 40 0.041
342
OCL010 Ocular Hypotension 39 0.041
343
P INT260 Intracranial Berry Aneurysm 39 0.041
344
TRN012 Transient Global Amnesia 39 0.041
345
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 38 0.041
346
ACT167 Acute Generalized Exanthematous Pustulosis 37 0.041
347
c RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 37 0.041
348
INT003 Intracranial Hypotension 35 0.041
349
WBR001 Weber Syndrome 35 0.041
350
MYC078 Myoclonus and Ataxia 33 0.041
351
PRX009 Paroxysmal Hemicrania 33 0.041
352
PRS064 Persistent Vegetative State 33 0.041
353
PRX035 Paroxysmal Dyskinesia 33 0.041
354
P ACT028 Acute Closed-Angle Glaucoma 30 0.041
355
SPN340 Spontaneous Intracranial Hypotension 29 0.041
356
CHL079 Children's Interstitial Lung Disease 26 0.041
357
c ORT012 Orthostatic Hypotension 2 26 0.041
358
ADG002 Audiogenic Seizures 25 0.041
359
BRN053 Bronchial Adenomas/carcinoids Childhood 25 0.041
360
INT053 Intracranial Vasospasm 24 0.041
361
DPS001 Dipsogenic Diabetes Insipidus 23 0.041
362
VTR001 Vitreoretinal Dystrophy 22 0.041
363
SLF016 Sulfonamide Allergy 20 0.041
364
SLC024 Slc4a1-Associated Distal Renal Tubular Acidosis 19 0.041
365
c FML159 Familial Periodic Paralyses 16 0.041
366
P CLR023 Colorectal Cancer 99 0.029
367
P BRS047 Breast Cancer 97 0.029
368
c LKM061 Leukemia, Acute Myeloid 84 0.029
369
CYS001 Cystic Fibrosis 81 0.029
370
P RHM011 Rheumatoid Arthritis 80 0.029
371
c NRF023 Neurofibromatosis, Type Ii 80 0.029
372
P BLD134 Bladder Cancer 79 0.029
373
c DLT002 Dilated Cardiomyopathy 79 0.029
374
BRN028 Brain Cancer 74 0.029
375
P SCH015 Schizophrenia 74 0.029
376
CRH001 Crohn's Disease 74 0.029
377
SVR004 Severe Combined Immunodeficiency 73 0.029
378
c THR092 Thrombophilia Due to Thrombin Defect 73 0.029
379
P NRB001 Neuroblastoma 72 0.029
380
c EXD008 Exudative Vitreoretinopathy 1 71 0.029
381
PRP027 Peripheral Vascular Disease 71 0.029
382
P ATS364 Autism 70 0.029
383
P MYC007 Myocardial Infarction 70 0.029
384
P AMY004 Amyloidosis 70 0.029
385
P HYP061 Hypertrophic Cardiomyopathy 70 0.029
386
P HYP086 Hypothyroidism 69 0.029
387
P LKM062 Leukemia, Acute Lymphoblastic 69 0.029
388
P MYS003 Myasthenia Gravis 68 0.029
389
c CNG411 Congenital Disorder of Glycosylation, Type in 68 0.029
390
RCK004 Rickets 68 0.029
391
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 67 0.029
392
P CRD119 Cardiac Arrest 67 0.029
393
c ATS007 Autism Spectrum Disorder 67 0.029
394
ALC007 Alcohol Dependence 66 0.029
395
ANG054 Angina Pectoris 66 0.029
396
HYP056 Hypoglycemia 66 0.029
397
KRT019 Keratitis, Hereditary 65 0.029
398
PND002 Pendred Syndrome 65 0.029
399
ATH013 Atherosclerosis Susceptibility 65 0.029
400
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65 0.029
401
c DBT099 Diabetes Mellitus, Type I 65 0.029
402
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.029
403
NRM005 Neuromuscular Disease 64 0.029
404
CLF027 Cleft Palate, Isolated 64 0.029
405
KRN002 Kearns-Sayre Syndrome 63 0.029
406
INC021 Incontinentia Pigmenti 63 0.029
407
P HML002 Hemolytic Anemia 63 0.029
408
P RNL100 Renal Hypodysplasia/aplasia 1 63 0.029
409
CYS013 Cystinuria 63 0.029
410
SKN016 Skin Disease 63 0.029
411
P MVM001 Movement Disease 63 0.029
412
ERL001 Early Myoclonic Encephalopathy 62 0.029
413
P EPL198 Epilepsy, Myoclonic Juvenile 62 0.029
414
BLL006 Bullous Pemphigoid 62 0.029
415
CHR619 Chromosome 2q35 Duplication Syndrome 62 0.029
416
MDD011 Mood Disorder 62 0.029
417
TXC005 Toxic Shock Syndrome 62 0.029
418
PSR001 Psoriatic Arthritis 61 0.029
420
FTT001 Fatty Liver Disease 61 0.029
421
P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 61 0.029
422
ART141 Arteriovenous Malformations of the Brain 61 0.029
423
P PNC044 Pancreatitis 61 0.029
424
SDD001 Sudden Infant Death Syndrome 61 0.029
425
P LPS004 Lupus Erythematosus 61 0.029
426
P HMN010 Hemangioma 61 0.029
427
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 60 0.029
428
SPN186 Spinal Cord Injury 60 0.029
429
TTH002 Tooth Agenesis 60 0.029
430
DBT084 Diabetes Mellitus, Ketosis-Prone 60 0.029
431
P VNT002 Ventricular Septal Defect 60 0.029
432
c ACT027 Acute Pancreatitis 60 0.029
433
HPT019 Hepatic Encephalopathy 60 0.029
434
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 0.029
435
CHL014 Cholera 59 0.029
436
c LTN004 Late-Onset Retinal Degeneration 59 0.029
437
P PLY006 Polydactyly 59 0.029
438
PPT005 Peptic Ulcer Disease 59 0.029
439
SPR004 Supravalvular Aortic Stenosis 58 0.029
440
CRD132 Cardiac Conduction Defect 58 0.029
441
CNT047 Contact Dermatitis 58 0.029
442
P URT039 Urticaria 58 0.029
443
P RHN004 Rhinitis 57 0.029
444
DSS009 Disseminated Intravascular Coagulation 57 0.029
445
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.029
446
c ACT075 Acute Myocardial Infarction 57 0.029
447
P ANG015 Angioedema 57 0.029
448
P PYL005 Pyelonephritis 56 0.029
449
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.029
450
P LBR014 Leber Congenital Amaurosis 4 56 0.029
451
INT030 Intracranial Aneurysm 56 0.029
452
P HYP024 Hypoparathyroidism 56 0.029
453
SLC006 Silicosis 56 0.029
454
AGN016 Aging 56 0.029
455
P ANT006 Antiphospholipid Syndrome 55 0.029
456
P GRV001 Graves' Disease 55 0.029
457
P PTT006 Pituitary Adenoma 55 0.029
458
P HYP076 Hyperthyroidism 55 0.029
459
c MYP132 Myopathy, Congenital 55 0.029
460
URN010 Urinary Tract Obstruction 55 0.029
461
P LRY044 Larynx Cancer 55 0.029
462
CLF004 Cleft Lip/palate 54 0.029
463
HYP060 Hyperinsulinism 54 0.029
464
RSC001 Rosacea 54 0.029
465
GLC003 Glucose Intolerance 54 0.029
466
P INF037 Inflammatory Bowel Disease 54 0.029
467
PRC013 Pericarditis 54 0.029
468
GST009 Gastroschisis 53 0.029
469
CRH005 Crohn's Colitis 53 0.029
470
NVS001 Neovascular Glaucoma 53 0.029
471
P CNT005 Central Nervous System Lymphoma 53 0.029
472
P ALT001 Alternating Hemiplegia of Childhood 53 0.029
473
GTR002 Goiter 53 0.029
474
P FBR031 Febrile Seizures 53 0.029
475
IRD001 Iridocyclitis 53 0.029
476
DMY004 Demyelinating Disease 52 0.029
477
P TRT010 Teratoma 52 0.029
478
P SPP010 Suppressor of Tumorigenicity 3 51 0.029
479
MYL001 Myelitis 51 0.029
480
ILS001 Ileus 51 0.029
481
ANK001 Ankylosis 51 0.029
482
ACT049 Acute Disseminated Encephalomyelitis 51 0.029
483
MYL020 Myelomeningocele 51 0.029
484
HYP781 Hypoascorbemia 51 0.029
485
CRN030 Coronary Stenosis 50 0.029
486
NPH018 Nephrogenic Systemic Fibrosis 50 0.029
487
P PNV001 Panuveitis 50 0.029
488
HRT011 Heart Septal Defect 50 0.029
489
c PSR021 Psoriasis 14, Pustular 50 0.029
490
HYP017 Hypophosphatemia 50 0.029
491
c DYS119 Dystonia 9 50 0.029
492
INT078 Intracranial Thrombosis 49 0.029
493
CHL004 Cholelithiasis 49 0.029
494
P MGR001 Migraine Without Aura 49 0.029
495
P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 48 0.029
496
DRY001 Dry Eye Syndrome 47 0.029
497
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 0.029
498
CRD137 Cardiogenic Shock 47 0.029
499
MNC019 Monocarboxylate Transporter 1 Deficiency 47 0.029
500
BST008 Bestrophinopathy, Autosomal Recessive 46 0.029
501
OBS004 Obstructive Hydrocephalus 46 0.029
502
GLC084 Glaucoma, Normal Tension 46 0.029
503
SYN036 Syncope 45 0.029
504
c TRC022 Tricuspid Valve Insufficiency 45 0.029
505
TRT001 Teratocarcinoma 45 0.029
506
CYN002 Cyanosis, Transient Neonatal 45 0.029
507
HPT004 Hepatic Coma 45 0.029
508
P CMM008 Communicating Hydrocephalus 45 0.029
509
c EPS017 Episodic Ataxia, Type 6 45 0.029
510
P CHR345 Chronic Pain 44 0.029
511
c CHR579 Chiari Malformation Type Ii 44 0.029
512
P CRN024 Corneal Disease 44 0.029
513
PYR037 Pyruvate Carboxylase Deficiency 43 0.029
514
c CHR096 Chronic Pulmonary Heart Disease 43 0.029
515
P CND005 Cone Dystrophy 43 0.029
516
P MJR007 Major Affective Disorder 1 43 0.029
517
P CRN035 Cranial Nerve Palsy 42 0.029
518
P CLS010 Cluster Headache 42 0.029
519
KLN009 Kleine-Levin Hibernation Syndrome 42 0.029
520
EST005 Esotropia 42 0.029
521
BCK006 Back Pain 42 0.029
522
P VTL001 Vitelliform Macular Dystrophy 42 0.029
523
c ATS307 Autosomal Recessive Cerebellar Ataxia 42 0.029
524
P CHR342 Chiari Malformation 41 0.029
525
LMB024 Limbic Encephalitis 41 0.029
526
c SPN100 Spinocerebellar Ataxia 27 41 0.029
527
P HYP263 Hypersomnia 41 0.029
528
c EPS034 Episodic Ataxia, Type 5 40 0.029
529
VTR003 Vitreous Detachment 39 0.029
530
LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 39 0.029
531
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.029
532
P PST059 Pustular Psoriasis 37 0.029
533
P CRB088 Cerebral Atrophy 37 0.029
534
BNG018 Benign Paroxysmal Positional Nystagmus 37 0.029
535
SCR003 Secretory Diarrhea 37 0.029
536
GRS001 Gerstmann Syndrome 36 0.029
537
P HRD217 Hereditary Optic Neuropathy 36 0.029
538
c FML306 Familial or Sporadic Hemiplegic Migraine 36 0.029
539
ABD010 Abdominal Wall Defect 36 0.029
540
HRW001 Hair Whorl 36 0.029
541
HMM005 Hemimelia 35 0.029
542
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 34 0.029
543
BST007 Best Vitelliform Macular Dystrophy 34 0.029
545
MTH086 Methotrexate Toxicity 33 0.029
546
c RCR002 Recurrent Hypersomnia 33 0.029
547
SBC014 Subclavian Steal Syndrome 32 0.029
548
HYD003 Hydrarthrosis 31 0.029
549
EXN003 Exencephaly 31 0.029
550
P RNL115 Renal Tubular Acidosis, Proximal 31 0.029
551
MNC001 Monocular Esotropia 30 0.029
552
BRW004 Brown-Sequard Syndrome 30 0.029
553
AML065 Amelia 30 0.029
554
P VRT013 Vertigo, Benign Recurrent 29 0.029
555
SCR024 Sacrococcygeal Teratoma 29 0.029
556
c EPS037 Episodic Ataxia, Type 4 29 0.029
557
c EPS014 Episodic Ataxia, Type 3 28 0.029
558
BLP001 Blepharochalasis 27 0.029
559
NNT021 Neonatal Meningitis 25 0.029
560
FCL074 Facial Spasm 23 0.029
561
c RRM016 Rare Movement Disorder 22 0.029
562
CRB087 Cerebral Arteriosclerosis 22 0.029
563
CGH002 Cough Headache 21 0.029
564
EXT009 Extratemporal Epilepsy 21 0.029
565
DMN012 Dementia - Subcortical 21 0.029
566
HYP188 Hypnic Headache 20 0.029
567
OPT077 Optic Disc Pit 17 0.029
568
EXR004 Exertional Headache 15 0.029
Content
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