Search results for Acute Intermittent Porphyria

758 hits were found for Acute Intermittent Porphyria

# Family MCID Name MIFTS Score
1
PRP083 Porphyria, Acute Intermittent 64 14.937
2
c ACT078 Acute Porphyria 51 6.848
3
P PRP029 Porphyria 62 1.543
4
c ACT075 Acute Myocardial Infarction 57 0.691
5
P PRP003 Porphyria Cutanea Tarda 67 0.632
6
P KDN018 Kidney Disease 72 0.582
7
P LKM002 Leukemia 68 0.576
8
P MYL006 Myeloid Leukemia 60 0.574
9
P LKM062 Leukemia, Acute Lymphoblastic 69 0.574
10
c LKM061 Leukemia, Acute Myeloid 84 0.549
11
c ACT027 Acute Pancreatitis 60 0.529
12
c ACT071 Acute Kidney Failure 60 0.508
13
P PNC044 Pancreatitis 61 0.499
14
P MYC007 Myocardial Infarction 70 0.488
15
c ACT073 Acute Leukemia 58 0.448
16
P RSP003 Respiratory Failure 74 0.440
17
APP008 Appendicitis 61 0.353
18
VRG001 Variegate Porphyria 56 0.340
19
STR067 Stroke, Ischemic 81 0.337
20
P ENC018 Encephalopathy 61 0.329
21
PRP082 Porphyria, Congenital Erythropoietic 56 0.312
22
P DRR001 Diarrhea 55 0.309
23
P NRP001 Neuropathy 56 0.306
24
CHL067 Cholecystitis 57 0.293
25
P HPT021 Hepatitis 67 0.283
26
OCL069 Ocular Motor Apraxia 51 0.279
27
DFC004 Deficiency Anemia 70 0.272
28
CTN011 Cutaneous Porphyria 38 0.272
29
P SZR006 Seizure Disorder 56 0.269
30
c ACT134 Acute Liver Failure 56 0.269
31
PRT036 Peritonitis 64 0.267
32
c HPT001 Hepatitis C 62 0.261
33
P LVR013 Liver Disease 68 0.261
34
VSL002 Visual Epilepsy 59 0.259
35
48X005 48,xyyy 39 0.255
36
P PNM007 Pneumonia 68 0.253
37
ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 67 0.252
38
PLM129 Pulmonary Disease, Chronic Obstructive 73 0.252
39
PNG002 Pain Agnosia 51 0.251
40
THR024 Thrombosis 57 0.249
41
MYL009 Myelodysplastic Syndrome 70 0.249
42
CPR004 Coproporphyria, Hereditary 57 0.249
43
P LPS004 Lupus Erythematosus 61 0.248
44
P VSC007 Vascular Disease 63 0.245
45
P NTR004 Neutropenia 63 0.245
46
LVR012 Liver Cirrhosis 62 0.239
47
c VRL010 Viral Hepatitis 52 0.239
48
c ACT068 Acute Cystitis 63 0.238
49
ALC007 Alcohol Dependence 66 0.236
50
P GLM007 Glomerulonephritis 57 0.235
51
P ALC033 Alcohol Use Disorder 58 0.235
52
END086 End Stage Renal Disease 51 0.234
53
c CHR684 Chronic Kidney Disease 70 0.234
54
c HPT073 Hepatitis C Virus 72 0.233
55
CRB039 Cerebrovascular Disease 67 0.233
56
P THR014 Thrombocytopenia 67 0.231
57
ANG054 Angina Pectoris 66 0.230
58
MLR004 Malaria 81 0.228
59
P PLY019 Polyneuropathy 56 0.227
60
LPP008 Lipoprotein Quantitative Trait Locus 62 0.224
61
P CRD119 Cardiac Arrest 67 0.223
62
HMS001 Hemosiderosis 54 0.220
63
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.218
64
P PRP019 Peripheral Nervous System Disease 58 0.215
65
c SYS001 Systemic Lupus Erythematosus 86 0.214
66
CNS004 Constipation 58 0.212
67
HYP066 Hyperglycemia 61 0.211
68
P RRH023 Rare Hereditary Hemochromatosis 41 0.211
69
P HML002 Hemolytic Anemia 63 0.208
70
ART140 Arteries, Anomalies of 52 0.205
71
P MYC008 Myocarditis 59 0.204
72
HYP056 Hypoglycemia 66 0.203
73
P LYM118 Lymphoma 68 0.203
74
P ENC004 Encephalitis 61 0.201
75
IMM167 Immune Deficiency Disease 78 0.198
76
ADL002 Adult Syndrome 70 0.197
77
P EXN002 Exanthem 57 0.193
78
P ATR011 Atrial Fibrillation 66 0.192
79
PLM001 Pulmonary Tuberculosis 69 0.192
80
P HYP724 Hyperlipoproteinemia, Type Iii 73 0.192
81
PRC013 Pericarditis 54 0.190
82
c HPT016 Hepatitis B 59 0.189
83
P DBT009 Diabetes Mellitus 64 0.188
84
c HPT003 Hepatitis a 62 0.187
85
P PLM037 Pulmonary Hypertension 67 0.187
86
P GLL022 Guillain-Barre Syndrome 59 0.187
87
c PRT132 Protoporphyria, Erythropoietic, 1 61 0.185
88
QDR001 Quadriplegia 48 0.185
89
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.184
90
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.184
91
P INT070 Intestinal Obstruction 58 0.183
92
OST017 Osteomyelitis 64 0.183
93
DPR016 Depression 63 0.182
94
PLM031 Poliomyelitis 64 0.182
95
P HDC001 Headache 57 0.182
96
P HPT023 Hepatocellular Carcinoma 100 0.181
97
P VSC011 Vasculitis 62 0.181
98
P MNN013 Meningitis 66 0.179
99
PRP030 Purpura 54 0.179
100
SBC016 Subacute Delirium 44 0.176
101
47X002 47,xyy 49 0.176
102
CLT003 Colitis 62 0.175
103
ALL026 Allergic Hypersensitivity Disease 62 0.174
104
IRN002 Iron Metabolism Disease 57 0.174
105
FTT001 Fatty Liver Disease 61 0.172
106
DWN001 Down Syndrome 70 0.172
107
SPL018 Splenomegaly 48 0.171
108
ANR040 Aneurysm 59 0.171
109
ACT003 Acute Kidney Tubular Necrosis 45 0.170
110
MTB004 Metabolic Acidosis 50 0.170
111
P CHR345 Chronic Pain 44 0.170
112
CYT002 Cytokine Deficiency 42 0.169
113
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.169
114
c HYP595 Hypertension, Essential 84 0.168
115
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 64 0.167
116
VLV047 Volvulus of Midgut 49 0.165
117
ACQ007 Acquired Immunodeficiency Syndrome 60 0.163
118
MNT002 Mental Depression 58 0.163
119
GT001 Gout 64 0.163
120
STT001 Status Epilepticus 60 0.161
121
ILS001 Ileus 51 0.160
122
ANX010 Anxiety 73 0.159
123
c LKM063 Leukemia, Chronic Myeloid 72 0.159
124
LYM019 Lymphosarcoma 46 0.159
125
P END033 Endocarditis 57 0.158
126
PRP016 Paraplegia 52 0.158
127
CHL068 Cholestasis 61 0.157
128
c ATR087 Atrial Standstill 1 75 0.156
129
c EPS039 Episodic Pain Syndrome, Familial, 1 42 0.155
130
ATH013 Atherosclerosis Susceptibility 65 0.154
131
c PNS012 Paine Syndrome 61 0.154
132
NRG002 Neurogenic Bladder 55 0.154
133
c GLL024 Gallbladder Disease 1 53 0.154
134
P BPL003 Bipolar Disorder 56 0.154
135
P PRS040 Prostate Cancer 97 0.153
136
HMN044 Human Immunodeficiency Virus Type 1 71 0.152
137
MYL069 Myeloma, Multiple 85 0.152
138
ACT049 Acute Disseminated Encephalomyelitis 51 0.152
139
CRH001 Crohn's Disease 74 0.151
140
NTR005 Nutritional Deficiency Disease 62 0.150
141
P MYP004 Myopathy 70 0.150
142
DRM006 Dermatitis 61 0.150
143
P CNJ013 Conjunctivitis 65 0.149
144
HPT004 Hepatic Coma 45 0.149
145
HYD002 Hydronephrosis 60 0.149
146
P CHL066 Cholangitis 51 0.149
147
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.148
148
INT051 Intussusception 53 0.148
149
c HYP836 Hypercholesterolemia, Familial, 1 73 0.147
150
DSS009 Disseminated Intravascular Coagulation 57 0.146
151
INT067 Interstitial Nephritis 48 0.146
152
P EPL164 Epilepsy 71 0.146
153
NRT004 Neuritis 52 0.146
154
P SYS005 Systemic Scleroderma 68 0.144
155
ENT004 Enthesopathy 49 0.144
156
P OST002 Osteoporosis 74 0.142
157
PST011 Pustulosis of Palm and Sole 52 0.142
158
P PSR002 Psoriasis 62 0.142
159
ATN005 Autonomic Dysfunction 46 0.141
160
HPT019 Hepatic Encephalopathy 60 0.141
161
BLR008 Bilirubin Metabolic Disorder 57 0.140
162
c PRP091 Porphyria Cutanea Tarda, Type I 29 0.140
163
PPT005 Peptic Ulcer Disease 59 0.140
164
P SCH015 Schizophrenia 74 0.139
165
P MLT020 Multiple Sclerosis 72 0.138
166
CHL123 Chlamydia 59 0.138
167
URM002 Uremia 49 0.138
168
c MJR024 Major Affective Disorder 9 41 0.138
169
c MJR022 Major Affective Disorder 8 38 0.138
170
ULC004 Ulcerative Colitis 73 0.138
171
P PLY018 Polycythemia 56 0.137
172
P NPH012 Nephrotic Syndrome 60 0.137
173
ANR007 Anorexia Nervosa 63 0.137
174
P ALP008 Alopecia 54 0.137
175
PNC001 Pancytopenia 54 0.136
176
ATS010 Autosomal Recessive Disease 48 0.136
177
P PRP056 Porphyria, Acute Hepatic 48 0.136
178
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.136
179
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.136
180
HYP005 Hypokalemia 55 0.135
181
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 42 0.134
182
c SPN225 Spondyloarthropathy 1 73 0.134
183
c INH020 Inherited Metabolic Disorder 47 0.133
184
P HYP076 Hyperthyroidism 55 0.133
185
P SCK005 Sickle Cell Disease 50 0.133
186
P ART022 Arthritis 69 0.132
187
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69 0.132
188
SKN016 Skin Disease 63 0.132
189
P BRS047 Breast Cancer 97 0.131
190
CHR178 Chromosomal Triplication 35 0.130
191
EXP004 Exophthalmos 52 0.130
192
P HYP086 Hypothyroidism 69 0.130
193
c BDY007 Body Mass Index Quantitative Trait Locus 1 42 0.130
194
MYL001 Myelitis 51 0.129
195
P HRP006 Herpes Simplex 65 0.129
196
P URT039 Urticaria 58 0.129
197
P TRN020 Turner Syndrome 67 0.129
198
c PRM038 Primary Agammaglobulinemia 44 0.129
199
BRN004 Brain Edema 56 0.128
200
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 90 0.128
201
P PRS038 Personality Disorder 65 0.127
202
P LKM071 Leukemia, Chronic Lymphocytic 79 0.127
203
CHL004 Cholelithiasis 49 0.127
204
P SRC025 Sarcoidosis 1 70 0.126
205
CVD001 Covid-19 44 0.126
206
INF034 Infective Endocarditis 53 0.125
207
P TRM003 Tremor 54 0.125
208
AGN016 Aging 56 0.125
209
P CNR004 Cone-Rod Dystrophy 2 73 0.125
210
ATM095 Autoimmune Disease 62 0.125
211
P SDR002 Siderosis 44 0.125
212
VRC005 Varicose Veins 60 0.125
213
P BLD124 Bleeding Disorder, Platelet-Type, 11 63 0.124
214
P THY032 Thyroiditis 52 0.124
215
VRL011 Viral Infectious Disease 61 0.124
216
P CLR023 Colorectal Cancer 99 0.124
217
BRC012 Brucellosis 64 0.123
218
PSY004 Psychotic Disorder 67 0.123
219
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 0.122
220
CRD132 Cardiac Conduction Defect 58 0.122
221
P ASP006 Aspergillosis 69 0.121
222
PFF001 Pfeiffer Syndrome 79 0.121
223
PTH003 Pathologic Nystagmus 52 0.121
224
P AMY004 Amyloidosis 70 0.121
225
P THL005 Thalassemia 60 0.120
226
HMN014 Human Immunodeficiency Virus Infectious Disease 55 0.120
227
ANR004 Anuria 46 0.120
228
P MYC084 Mycobacterium Tuberculosis 1 68 0.120
229
TTN003 Tetanus 65 0.119
230
P BCL017 B-Cell Lymphoma 58 0.119
231
MYL005 Myelofibrosis 70 0.119
232
LYM133 Lymphoma, Hodgkin, Classic 69 0.118
233
THR016 Thrombophlebitis 51 0.118
234
HYP060 Hyperinsulinism 54 0.116
235
ATN004 Autonomic Neuropathy 45 0.116
236
P INF037 Inflammatory Bowel Disease 54 0.115
237
P TRC086 Trichohepatoenteric Syndrome 1 62 0.115
238
ANX004 Anoxia 40 0.114
239
ACT064 Acute Necrotizing Encephalitis 33 0.114
240
P DMN002 Dementia 66 0.113
241
P ART021 Arteriosclerosis 54 0.113
242
THR013 Thoracic Outlet Syndrome 54 0.112
243
c ATM011 Autoimmune Hepatitis 63 0.112
244
NRR001 Neuroretinitis 42 0.111
245
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55 0.111
246
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.111
247
P MSC003 Muscular Atrophy 52 0.110
248
P CTR002 Cataract 60 0.110
249
ADN018 Adenoma 59 0.110
250
P APL001 Aplastic Anemia 74 0.110
251
RTN023 Retinitis 46 0.109
252
P PHC003 Pheochromocytoma 71 0.109
253
P OPT009 Optic Neuritis 57 0.108
254
GLC003 Glucose Intolerance 54 0.108
255
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.108
256
SRC014 Sarcoma 65 0.108
257
SPN035 Spindle Cell Sarcoma 53 0.108
258
P ATX030 Ataxia-Telangiectasia 82 0.108
259
ACN002 Acanthosis Nigricans 60 0.107
260
RCK004 Rickets 68 0.107
261
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.106
262
P ANR048 Aniridia 1 63 0.106
263
P ALZ034 Alzheimer Disease 88 0.106
264
c CHR417 Chronic Graft Versus Host Disease 57 0.106
265
ATX010 Ataxia Neuropathy Spectrum 34 0.106
266
LYM143 Lymphoma, Non-Hodgkin, Familial 72 0.106
267
BLD137 Blood Group--Ahonen 16 0.106
268
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.106
269
P RHM011 Rheumatoid Arthritis 80 0.105
270
CNN005 Connective Tissue Disease 68 0.105
271
c FNC043 Fanconi Anemia, Complementation Group E 62 0.105
273
P ANG001 Angelman Syndrome 69 0.105
274
P AXN001 Axonal Neuropathy 36 0.105
275
HRT011 Heart Septal Defect 50 0.104
276
HRP004 Herpes Zoster 60 0.104
277
P TRN034 Transverse Myelitis 45 0.104
278
ALC006 Alcoholic Hepatitis 61 0.102
279
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.102
280
c MCR120 Microvascular Complications of Diabetes 7 47 0.102
281
P MYS005 Myositis 56 0.100
282
CLL003 Cellulitis 54 0.100
283
CRP001 Carpal Tunnel Syndrome 67 0.100
284
P SYP003 Syphilis 58 0.099
285
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59 0.099
286
P ECL001 Eclampsia 50 0.099
287
PRS047 Prostatitis 56 0.099
288
OST003 Osteonecrosis 61 0.098
289
NRT001 Neurotic Disorder 53 0.098
290
P PLY020 Polyradiculoneuropathy 48 0.098
291
P ATT013 Attention Deficit-Hyperactivity Disorder 65 0.097
292
P ESP024 Esophagitis 62 0.097
293
c PRC016 Pre-Eclampsia 63 0.097
294
P MLN008 Melanoma 69 0.097
295
c BRN108 Branchiootic Syndrome 1 62 0.096
296
CYT008 Cytomegalovirus Infection 57 0.096
297
NRM005 Neuromuscular Disease 64 0.096
298
c SCL052 Scleroderma, Familial Progressive 61 0.095
299
ADR040 Adrenal Gland Pheochromocytoma 46 0.095
300
DMY004 Demyelinating Disease 52 0.095
301
RFR010 Refractory Anemia 48 0.095
303
P DRM010 Dermatomyositis 61 0.094
304
P FTT008 Fatty Liver Disease, Nonalcoholic 1 60 0.094
305
SQM006 Squamous Cell Carcinoma 60 0.093
306
SPN051 Spondylitis 51 0.093
307
c PRS136 Prostate Cancer, Hereditary, 6 33 0.093
308
c PRS130 Prostate Cancer, Hereditary, 8 32 0.093
309
NNL005 Non-Alcoholic Fatty Liver Disease 61 0.093
310
AND002 Androgen Insensitivity Syndrome 66 0.093
311
P VNT002 Ventricular Septal Defect 60 0.092
312
P INF032 Infertility 57 0.092
313
P DYS021 Dysautonomia 39 0.092
314
P AXN002 Axenfeld-Rieger Syndrome 59 0.092
315
ALR002 Al-Raqad Syndrome 33 0.092
316
NNL006 Non-Alcoholic Steatohepatitis 54 0.092
317
P HMN010 Hemangioma 61 0.091
318
c MLN055 Melanoma, Cutaneous Malignant 10 52 0.091
319
HMG002 Hemoglobinuria 50 0.091
320
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.090
321
P ALP106 Alport Syndrome 1, X-Linked 55 0.090
322
SCH012 Schizoaffective Disorder 50 0.090
323
HMC014 Homocysteinemia 53 0.090
324
c MLG084 Malignant Fibrous Histiocytoma 63 0.089
325
ASP007 Aspiration Pneumonia 48 0.089
326
P HMP007 Hemophilia 51 0.089
327
PRT058 Pure Autonomic Failure 59 0.089
328
ART001 Arterial Tortuosity Syndrome 66 0.089
329
CHS007 Chester Porphyria 15 0.088
330
ERY003 Erythema Multiforme 58 0.088
331
c INF145 Infantile Liver Failure Syndrome 1 50 0.088
332
DSS008 Disease of Mental Health 58 0.088
333
CLN006 Colonic Pseudo-Obstruction 32 0.088
334
HMT002 Hematologic Cancer 62 0.088
335
P OVR042 Ovarian Cancer 88 0.087
336
HNS001 Hansen's Disease 34 0.087
337
INT071 Intestinal Perforation 51 0.087
338
c MCR113 Microvascular Complications of Diabetes 3 52 0.087
339
c PLM164 Pulmonary Hypertension, Primary, 1 75 0.087
340
c MCR130 Microvascular Complications of Diabetes 6 41 0.087
341
c MCR133 Microvascular Complications of Diabetes 4 41 0.087
342
P SBS003 Substance Abuse 55 0.087
343
SCK003 Sickle Cell Anemia 74 0.087
344
P PNC035 Pancreatic Cancer 84 0.087
345
P LPR021 Leprosy 3 69 0.087
346
CRT012 Cortical Blindness 37 0.087
347
P PRK057 Parkinson Disease, Late-Onset 78 0.086
348
BRR014 Barrett Esophagus 65 0.086
349
THY029 Thyroid Carcinoma 59 0.086
350
c DBT099 Diabetes Mellitus, Type I 65 0.086
351
FCL014 Focal Epilepsy 54 0.085
352
INF009 Inflammatory Spondylopathy 31 0.085
353
MYC088 Mycobacterium Avium Complex Infections 29 0.085
354
PLY001 Polycythemia Vera 69 0.085
355
P GLM045 Glioma 63 0.085
356
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 49 0.085
357
c NRF023 Neurofibromatosis, Type Ii 80 0.085
358
ACT029 Acute Interstitial Pneumonia 49 0.085
359
GLL048 Glial Tumor 45 0.085
360
IRN001 Iron Deficiency Anemia 59 0.084
361
c ACT159 Acute Transverse Myelitis 38 0.084
362
GST050 Gastrointestinal System Disease 56 0.084
363
P END047 Endophthalmitis 53 0.084
364
MDS022 Mediastinitis 46 0.084
365
P VNS003 Venous Insufficiency 55 0.084
366
CMM005 Common Cold 57 0.084
367
FSC004 Fasciitis 50 0.083
368
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.083
369
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.083
370
LWC002 Lowe Oculocerebrorenal Syndrome 65 0.083
371
AND005 Androgen Insensitivity Syndrome, Mild 19 0.083
372
c BTT014 Beta-Thalassemia 74 0.083
373
INP001 Inappropriate Adh Syndrome 49 0.083
374
ERY051 Erythroleukemia, Familial 56 0.083
375
BRK012 Broken Heart Syndrome 35 0.082
376
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62 0.082
377
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 0.082
378
BRN014 Bronchopneumonia 54 0.082
379
ACT118 Acute Non Lymphoblastic Leukemia 26 0.082
380
P GST053 Gastric Cancer 83 0.082
381
PRS063 Paresthesia 41 0.082
382
P MYG005 Myoglobinuria 44 0.081
383
P TYR004 Tyrosinemia 58 0.081
384
HYP017 Hypophosphatemia 50 0.081
385
NPH009 Nephrolithiasis 55 0.081
386
ACT088 Acute Insulin Response 41 0.081
387
ETN001 Eating Disorder 60 0.080
388
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 67 0.080
389
P ACR001 Aicardi-Goutieres Syndrome 62 0.080
390
c ACR116 Aicardi-Goutieres Syndrome 1 52 0.080
391
AMN001 Amenorrhea 54 0.080
392
P DBT005 Diabetes Insipidus 55 0.080
393
P FML018 Familial Mediterranean Fever 73 0.080
394
P BND020 Bone Disease 59 0.080
395
ECT026 Ectopic Pregnancy 50 0.079
396
c CHR682 Chronic Bilirubin Encephalopathy 39 0.079
397
CHL065 Cholangiocarcinoma 68 0.079
398
P MCR115 Microvascular Complications of Diabetes 5 66 0.079
399
c BLD140 Blood Group, I System 32 0.078
400
P NRF002 Neurofibromatosis 56 0.078
401
URL001 Urolithiasis 45 0.078
402
CRY004 Cryoglobulinemia 48 0.078
403
LSH001 Leishmaniasis 63 0.078
404
c GRV008 Graves Disease 1 56 0.078
405
P SDR003 Sideroblastic Anemia 49 0.078
406
P CLC063 Celiac Disease 1 66 0.078
407
INT079 Intrahepatic Cholangiocarcinoma 51 0.078
408
P MYS003 Myasthenia Gravis 68 0.078
409
INT030 Intracranial Aneurysm 56 0.077
410
P END044 Endometriosis 63 0.077
411
HYP080 Hypogonadism 50 0.077
412
P MYC033 Myoclonus 46 0.077
413
AMN017 Aminolevulinic Acid Dehydratase Deficiency Porphyria 7 0.077
414
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 0.077
415
P KLZ004 Kala-Azar 1 41 0.077
416
HYP020 Hyperprolactinemia 64 0.077
417
P BLD134 Bladder Cancer 79 0.077
418
CMR002 Coumarin Resistance 56 0.077
419
P ART023 Arthropathy 62 0.076
420
CLC006 Calcinosis 48 0.076
421
CNS002 Constrictive Pericarditis 40 0.076
422
SNS003 Sensory Peripheral Neuropathy 54 0.076
423
NRM001 Neuromyelitis Optica 61 0.076
424
HYP081 Hypolipoproteinemia 51 0.076
425
HMR039 Hemorrhage, Intracerebral 57 0.076
426
RYN005 Raynaud Phenomenon 47 0.075
427
c VRL007 Viral Encephalitis 51 0.075
428
GLB015 Glioblastoma Multiforme 75 0.075
429
c CNT035 Central Nervous System Disease 52 0.075
430
P ATS364 Autism 70 0.074
431
MLD001 Melioidosis 68 0.074
432
LYM022 Lymphangioma 54 0.074
433
P PLY017 Polyarteritis Nodosa 58 0.074
434
NCR007 Necrotizing Fasciitis 48 0.073
435
c INV001 Invasive Aspergillosis 49 0.073
436
c PNC106 Pancreatic Agenesis 1 51 0.073
437
CHR078 Chorioretinitis 50 0.073
438
P RRL003 Rare Lymphatic Malformation 31 0.073
439
c DRR009 Diarrhea 6 46 0.073
440
PST092 Posttransplant Acute Limbic Encephalitis 29 0.073
441
P HYP083 Hypopituitarism 53 0.072
442
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 0.072
443
SVR097 Severe Cutaneous Adverse Reaction 69 0.072
444
c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 0.071
445
c MLG069 Malignant Hypertension 47 0.071
446
HRY003 Hairy Cell Leukemia 55 0.071
447
XLN067 X-Linked Protoporphyria 16 0.071
448
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 60 0.071
449
KHL003 Kohlschutter-Tonz Syndrome 65 0.071
450
GLC096 Galactorrhea 42 0.071
451
ESP021 Esophageal Cancer 90 0.070
452
CRB009 Cerebritis 37 0.070
453
P CTN003 Cutaneous Lupus Erythematosus 53 0.070
454
P LCH002 Lichen Planus 53 0.070
455
CNT025 Central Pontine Myelinolysis 46 0.069
456
BLL006 Bullous Pemphigoid 62 0.069
457
P PTT014 Pitt-Hopkins Syndrome 63 0.069
458
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 32 0.069
459
HYP781 Hypoascorbemia 51 0.069
460
P LYM033 Lymphoproliferative Syndrome 59 0.069
461
P MMB011 Membranous Nephropathy 50 0.068
462
P OVR046 Ovarian Cyst 47 0.068
463
PLS006 Plasmodium Vivax Malaria 51 0.067
464
HMG005 Hemoglobinopathy 56 0.067
465
BDD001 Budd-Chiari Syndrome 63 0.067
466
P PHT010 Photoparoxysmal Response 1 42 0.067
467
c CHR431 Chronic Venous Insufficiency 49 0.067
468
P ICH004 Ichthyosis 54 0.066
469
LYM017 Lyme Disease 64 0.066
470
c JVN010 Juvenile Rheumatoid Arthritis 64 0.066
471
TXC002 Toxic Encephalopathy 53 0.066
472
c FML021 Familial Hypercholesterolemia 66 0.066
473
c MCR129 Microvascular Complications of Diabetes 1 66 0.066
474
c SYS043 Systemic Lupus Erythematosus 1 38 0.066
475
P BRB001 Beriberi 46 0.066
476
CYT018 Cytochrome P450 2d6 Variant 27 0.066
477
ADP007 Adie Pupil 39 0.066
478
c CHR098 Chronic Pyelonephritis 38 0.065
479
HNM002 Hinman Syndrome 27 0.065
480
FNG017 Fungal Infectious Disease 53 0.065
481
TRG019 Trigonocephaly with Short Stature and Developmental Delay 32 0.065
482
IGG001 Iga Glomerulonephritis 48 0.065
483
RYS001 Reye Syndrome 51 0.065
484
SCT002 Scotoma 44 0.065
485
HPT082 Hepatic Adenomas, Familial 44 0.065
486
P HYP726 Hypercalcemia, Infantile, 1 58 0.065
487
KPS004 Kaposi Sarcoma 75 0.064
488
PRL008 Paralytic Ileus 45 0.064
489
c PNC108 Pancreatitis, Hereditary 70 0.064
490
MDD018 Middle East Respiratory Syndrome 43 0.064
491
BLD165 Blood Group, Colton System 20 0.064
492
KRT006 Keratoconjunctivitis 53 0.064
493
SXL003 Sexual Disorder 47 0.064
494
KRT009 Keratosis 51 0.063
495
P PLY011 Polycystic Ovary Syndrome 56 0.063
496
c THY109 Thyroid Cancer, Nonmedullary, 1 56 0.063
497
CYS002 Cystic Lymphangioma 48 0.062
498
HLX001 Helix Syndrome 47 0.062
499
c INT072 Intestinal Pseudo-Obstruction 56 0.062
500
P MRC003 Mercury Poisoning 48 0.062
501
ARG004 Argyria 27 0.062
502
c ATM024 Autoimmune Pancreatitis 55 0.062
503
c FML035 Familial Hyperlipidemia 55 0.062
504
P RST001 Restless Legs Syndrome 54 0.062
505
c PSR017 Psoriasis 2 53 0.062
506
c PSR023 Psoriasis 1 52 0.062
507
c PSR032 Psoriasis 11 47 0.062
508
c PSR028 Psoriasis 7 42 0.062
509
c PSR018 Psoriasis 13 41 0.062
510
NRN002 Neuronitis 32 0.061
511
c JVN061 Juvenile Arthritis 60 0.061
512
BLD163 Blood Group, Dombrock System 24 0.061
513
PNC034 Pancreas Disease 48 0.061
514
CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 46 0.061
515
P PNC025 Panic Disorder 53 0.061
516
EYD002 Eye Disease 58 0.061
517
P EHL001 Ehlers-Danlos Syndrome 58 0.061
518
P PSD087 Pseudoxanthoma Elasticum 65 0.060
519
c MLG068 Malignant Glioma 46 0.060
520
P PLY014 Polycystic Kidney Disease 62 0.060
521
ERL001 Early Myoclonic Encephalopathy 62 0.060
522
HYP034 Hypertensive Encephalopathy 46 0.060
523
VSC003 Visceral Leishmaniasis 55 0.060
524
c PRD013 Periodic Fever, Familial, Autosomal Dominant 67 0.060
525
DBT010 Diabetic Neuropathy 54 0.060
526
CCT001 Cicatricial Ectropion 25 0.060
527
P DRM007 Dermatitis Herpetiformis 55 0.060
528
P BRT004 Bartter Disease 52 0.059
529
NPH010 Nephrosclerosis 50 0.059
530
PRN011 Pernicious Anemia 53 0.059
531
HNT019 Hantavirus Hemorrhagic Fever with Renal Syndrome 44 0.059
532
DWR001 Dwarfism 44 0.059
533
P CHR342 Chiari Malformation 41 0.059
534
P SJG008 Sjogren Syndrome 61 0.059
535
ISL119 Isolated Optic Neuritis 30 0.059
536
P OCL013 Oculodentodigital Dysplasia 69 0.058
537
P SHR029 Short Syndrome 63 0.058
538
GLB001 Gilbert Syndrome 58 0.058
539
SPN331 Spondyloocular Syndrome 36 0.058
540
VGN023 Vaginitis 54 0.058
541
KRT002 Keratomalacia 47 0.058
542
P ALP009 Alopecia Areata 60 0.058
543
INT017 Intestinal Schistosomiasis 48 0.057
544
STF001 Stiff-Person Syndrome 60 0.057
545
c ANM036 Anemia, Sideroblastic, 1 57 0.057
546
SCL008 Scleromalacia Perforans 23 0.057
547
P GLM040 Glioma Susceptibility 1 81 0.057
548
RDC006 Red Cell Aplasia 43 0.057
549
P RTN008 Retinitis Pigmentosa 79 0.057
550
P HNT016 Huntington Disease 72 0.057
551
c ALM001 Al Amyloidosis 50 0.057
552
P CRB088 Cerebral Atrophy 37 0.057
553
MNN017 Mononeuropathy 42 0.057
554
SFT003 Soft Tissue Sarcoma 56 0.056
555
c DRM040 Dermatitis Herpetiformis, Familial 35 0.056
556
PYR016 Pyridoxine Deficiency 30 0.056
557
c AMY009 Amyloidosis Aa 50 0.056
558
MTY003 Mutyh Polyposis 30 0.056
559
ICH001 Ichthyosis Vulgaris 55 0.056
560
GRN009 Granulomatous Hepatitis 33 0.056
561
MXD005 Mixed Connective Tissue Disease 58 0.056
562
CNN003 Conn's Syndrome 79 0.056
563
P HYP802 Hypocalcemia, Autosomal Dominant 1 69 0.056
564
P PRR002 Pure Red-Cell Aplasia 47 0.055
565
PRT038 Protein-Energy Malnutrition 54 0.055
566
GLC009 Glucosephosphate Dehydrogenase Deficiency 52 0.055
567
c MCR112 Microvascular Complications of Diabetes 2 41 0.055
568
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 53 0.055
569
P BCT020 Bacteremia 2 44 0.055
570
MLK003 Melkersson-Rosenthal Syndrome 45 0.055
571
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.054
572
c PRM340 Primary Adrenal Insufficiency 36 0.054
573
P EPL140 Epilepsy, Idiopathic Generalized 62 0.054
574
c HYP272 Hypercholesterolemia, Familial, 3 44 0.054
575
MYC006 Mycosis Fungoides 66 0.054
576
GLL008 Gilles De La Tourette Syndrome 66 0.054
577
CYC010 Cyclic Neutropenia 62 0.054
578
PCD001 Pica Disease 41 0.054
579
ANG020 Angiosarcoma 64 0.054
580
LPR001 Lepromatous Leprosy 50 0.053
581
P PMP001 Pemphigus 54 0.053
582
ANC002 Anca-Associated Vasculitis 41 0.053
583
P PRD021 Periodic Paralysis 45 0.053
584
ACH004 Achondroplasia 66 0.053
585
HYP063 Hypersplenism 53 0.053
586
NSP002 Nasopharyngitis 43 0.052
587
P SHW006 Shwachman-Diamond Syndrome 1 67 0.052
588
P MYT002 Myotonic Dystrophy 49 0.052
589
ALC009 Alcoholic Liver Cirrhosis 53 0.052
590
CYT005 Cytomegalovirus Retinitis 50 0.052
591
INT146 Intervertebral Disc Disease 63 0.051
592
MGL001 Megaloblastic Anemia 51 0.051
593
ANL018 Analbuminemia 54 0.051
594
EXT039 Extrapontine Myelinolysis 18 0.051
595
c NRF024 Neurofibromatosis, Type I 77 0.051
596
PLL001 Pallister-Hall Syndrome 64 0.051
597
DDN006 Duodenitis 49 0.050
598
CHL056 Cheilitis 48 0.050
599
ABD004 Abdominal Tuberculosis 38 0.050
600
PLM012 Pulmonary Sarcoidosis 53 0.050
601
c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 55 0.050
602
HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 54 0.049
603
P FNG006 Feingold Syndrome 1 55 0.049
604
AYM001 Ayme-Gripp Syndrome 57 0.049
605
MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 39 0.049
606
CYS008 Cystic Echinococcosis 56 0.049
607
DNT046 Dental Abscess 35 0.049
608
DBT002 Diabetic Autonomic Neuropathy 41 0.049
609
HRT037 Heart and Brain Malformation Syndrome 31 0.049
610
GST040 Gastric Adenocarcinoma 70 0.049
611
FCT001 Factor Viii Deficiency 51 0.048
612
LRN003 Learning Disability 49 0.048
613
c PRG001 Progressive Muscular Atrophy 42 0.048
614
HYP344 Hyperthyroidism, Familial Gestational 39 0.048
615
P RNL007 Renal Tubular Acidosis 51 0.048
616
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 31 0.048
617
VTM033 Vitamin K Deficiency Bleeding 48 0.048
618
RGH009 Right Atrial Isomerism 60 0.048
619
c GLY005 Glycogen Storage Disease Vi 56 0.048
620
SPS019 Spastic Paraparesis 38 0.048
621
OVR029 Ovarian Hyperstimulation Syndrome 64 0.048
622
P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53 0.048
623
HNT002 Hantavirus Pulmonary Syndrome 50 0.047
624
ERY029 Erythermalgia, Primary 58 0.047
625
KLV001 Kluver-Bucy Syndrome 34 0.047
626
DRG003 Drug Dependence 47 0.047
627
PLY012 Polyhydramnios 46 0.047
628
CYC008 Cyclic Vomiting Syndrome 47 0.047
629
MYP159 Myopathy, Proximal, with Ophthalmoplegia 55 0.047
630
c CHR579 Chiari Malformation Type Ii 44 0.047
631
ADR054 Adrenocortical Carcinoma, Hereditary 66 0.047
632
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 0.047
633
CRB008 Cerebral Atherosclerosis 44 0.047
634
P EPL198 Epilepsy, Myoclonic Juvenile 62 0.046
635
STT041 Stuttering 52 0.046
636
c BSL007 Basal Cell Carcinoma 68 0.046
637
ERY069 Erythrokeratoderma ''en Cocardes'' 30 0.046
638
PRM020 Premenstrual Tension 40 0.046
639
P HRD086 Hereditary Hypophosphatemic Rickets 40 0.046
640
AGR002 Agoraphobia 45 0.046
641
c SRC023 Sarcoidosis 2 43 0.046
642
c PRM196 Premature Ovarian Failure 1 67 0.046
643
c TYR012 Tyrosinemia, Type I 66 0.045
644
ACH022 Achalasia-Addisonianism-Alacrima Syndrome 65 0.045
645
RVR002 Reversible Cerebral Vasoconstriction Syndrome 28 0.045
646
P CRY007 Cryoglobulinemia, Familial Mixed 50 0.045
647
P FRD001 Friedreich Ataxia 64 0.045
648
IMM162 Immunoglobulin E Concentration, Serum 28 0.045
649
MDN008 Median Arcuate Ligament Syndrome 35 0.045
650
IMN001 Iminoglycinuria 45 0.045
651
ANT078 Antipyrine Metabolism 24 0.045
652
PLL008 Pallister-Killian Syndrome 43 0.045
653
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.044
654
c MTC056 Mitochondrial Dna Depletion Syndrome 4a 59 0.044
655
ARG007 Argininemia 57 0.044
656
PRN039 Paraneoplastic Syndromes 38 0.043
657
HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 53 0.043
658
BNG077 Benign Idiopathic Neonatal Seizures 26 0.043
659
CLD007 Cold Agglutinin Disease 45 0.043
660
HYP572 Hypoganglionosis 28 0.043
661
c PTT056 Pituitary Adenoma 1, Multiple Types 58 0.043
662
MLN070 Melanoma-Astrocytoma Syndrome 37 0.043
663
MNG003 Mungan Syndrome 29 0.043
664
c MYT021 Myotonic Dystrophy 1 69 0.043
665
DRR014 Darier-White Disease 60 0.043
666
ANH003 Anhaptoglobinemia 30 0.043
667
MNN002 Mononeuritis Multiplex 41 0.043
668
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 65 0.042
669
c HYD046 Hydatidiform Mole, Recurrent, 1 59 0.042
670
P HRS035 Hirschsprung Disease 1 65 0.042
671
CLF027 Cleft Palate, Isolated 64 0.042
672
LYM004 Lymphoid Interstitial Pneumonia 51 0.042
673
FCT008 Factitious Disorder 31 0.042
674
EMP001 Empty Sella Syndrome 44 0.042
675
ADR016 Adrenal Cortical Carcinoma 48 0.042
676
PRL023 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 44 0.042
677
PMP006 Pemphigus Vulgaris, Familial 57 0.042
678
ADJ001 Adjustment Disorder 40 0.041
679
MYC078 Myoclonus and Ataxia 33 0.041
680
GLN010 Glanzmann Thrombasthenia 66 0.041
681
P CNG001 Congenital Myasthenic Syndrome 66 0.041
682
RNL024 Renal Glucosuria 58 0.041
683
c CNG208 Congenital Disorder of Glycosylation, Type Iic 51 0.041
684
RPP001 Rapp-Hodgkin Syndrome 44 0.041
685
LNT004 Lentigines 50 0.040
686
P RTH006 Rothmund-Thomson Syndrome, Type 2 69 0.040
687
TLR001 Tularemia 51 0.040
688
c HYP293 Hypophosphatasia, Adult 52 0.040
689
SVN002 Sveinsson Chorioretinal Atrophy 46 0.040
690
ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 53 0.040
691
ASB001 Asbestosis 47 0.040
692
c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67 0.040
693
LYM043 Lymphocytic Hypophysitis 32 0.040
694
CYS014 Cystadenocarcinoma 51 0.039
695
ANT013 Anterior Spinal Artery Syndrome 29 0.039
696
c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43 0.039
697
ORL003 Oral Tuberculosis 39 0.039
698
ERY017 Erythema Elevatum Diutinum 38 0.039
699
ADR004 Adrenal Cortical Adenocarcinoma 39 0.039
700
ARS001 Aarskog-Scott Syndrome 57 0.039
701
ATN021 Autoinflammatory Syndrome 36 0.038
702
ASB003 Asbestos Intoxication 26 0.038
703
VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 48 0.038
704
ORL011 Oral Cancer 60 0.038
705
BLP005 Blepharitis 50 0.038
706
MYX004 Myxedema 43 0.038
707
P HMG032 Hemoglobin H Disease 52 0.038
708
DNB001 Danubian Endemic Familial Nephropathy 44 0.038
709
BWN003 Bowenoid Papulosis 34 0.038
710
MLR020 Malaria, Mild 27 0.038
711
PLY039 Polymorphic Reticulosis 21 0.038
712
MYT011 Myotonia 34 0.038
713
MTR007 Motor Peripheral Neuropathy 39 0.037
714
LGR001 Laugier-Hunziker Syndrome 18 0.037
715
EPT021 Epithelial Recurrent Erosion Dystrophy 42 0.037
716
XRD010 Xeroderma Pigmentosum, Variant Type 73 0.037
717
P HYP035 Hypophosphatasia 61 0.037
718
CHN055 Chanarin-Dorfman Syndrome 61 0.037
719
PRT055 Prieto X-Linked Mental Retardation Syndrome 29 0.037
720
P HYP370 Hypokalemic Periodic Paralysis, Type 1 64 0.037
721
MTB016 Metabolic Myopathy 32 0.037
722
c AML044 Amelogenesis Imperfecta, Type Ig 54 0.037
723
c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 18 0.037
724
ADN011 Adenoid Cystic Carcinoma 70 0.036
725
P ALG028 Alagille Syndrome 1 73 0.036
726
P CTS001 Cutis Laxa 65 0.036
727
EPT010 Epithelial-Myoepithelial Carcinoma 55 0.036
728
c CWD006 Cowden Syndrome 1 78 0.036
729
P CWD010 Cowden Syndrome 67 0.036
730
SPP003 Suppurative Periapical Periodontitis 34 0.036
731
HYP236 Hyperbilirubinemia, Rotor Type 46 0.036
732
LMT001 Limited Scleroderma 47 0.035
733
TYR015 Tyrosinosis 20 0.035
734
CRT055 Creatine Deficiency Syndromes 38 0.035
735
P THR117 Three M Syndrome 1 63 0.035
736
HYP706 Hypermobile Ehlers-Danlos Syndrome 53 0.035
737
NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 36 0.034
738
SPR066 Superficial Siderosis 39 0.034
739
NDL013 Nodular Regenerative Hyperplasia 47 0.033
740
ALK013 Alkaptonuria 58 0.033
741
c MYS033 Miyoshi Muscular Dystrophy 1 56 0.033
742
HMH004 Hemihyperplasia, Isolated 45 0.033
743
c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 43 0.033
744
BLD164 Blood Group, Gerbich System 23 0.033
745
HPT008 Hepatic Tuberculosis 32 0.032
746
LNN001 Lennox-Gastaut Syndrome 57 0.032
747
c BNM016 Bone Mineral Density Quantitative Trait Locus 1 24 0.031
748
PCK003 Pick Disease of Brain 68 0.031
749
c BSL024 Basal Cell Carcinoma 1 56 0.030
750
CRB108 Cerebral Palsy, Ataxic, Autosomal Recessive 35 0.030
751
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 52 0.029
752
P PRN026 Porencephaly 48 0.028
753
HMM003 Hemimegalencephaly 48 0.028
754
ACT164 Actinic Prurigo 44 0.027
755
CPG001 Capgras Syndrome 24 0.027
756
ASY004 Asymmetric Motor Neuropathy 17 0.027
757
TRC007 Tricuspid Valve Prolapse 36 0.025
758
MYC001 Myoclonic Cerebellar Dyssynergia 25 0.025
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