Search results for ski

718 hits were found for ski

# Family MCID Name MIFTS Score
1
SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 46 66.216
2
CHR222 Chromosome 1p36 Deletion Syndrome 45 20.726
3
SRC014 Sarcoma 65 18.221
4
P CRN037 Craniosynostosis 68 16.972
5
MCR013 Microphthalmia 60 15.221
6
HDN002 Head Injury 44 12.267
7
P PRS062 Persistent Hyperplastic Primary Vitreous 48 10.104
8
LVR002 Liver Angiosarcoma 43 8.442
9
P MYL006 Myeloid Leukemia 61 7.412
10
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 7.089
11
c ATM006 Autoimmune Lymphoproliferative Syndrome 75 6.938
12
SPN186 Spinal Cord Injury 61 6.929
13
c LKM061 Leukemia, Acute Myeloid 83 6.821
14
P LKM002 Leukemia 67 6.140
15
CRV035 Cervical Cancer 73 5.993
16
c LKM063 Leukemia, Chronic Myeloid 71 5.714
17
P PNC035 Pancreatic Cancer 86 5.555
18
MSC007 Muscle Hypertrophy 64 5.255
19
P SKN015 Skin Carcinoma 71 5.152
20
P BRS047 Breast Cancer 98 5.033
21
BCK006 Back Pain 47 4.457
22
HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 25 4.004
23
DSS008 Disease of Mental Health 74 3.933
24
P GST053 Gastric Cancer 83 3.886
25
CRB037 Cerebral Palsy 67 3.751
26
OCL069 Ocular Motor Apraxia 57 3.698
27
P LNG064 Lung Cancer Susceptibility 3 70 3.643
28
P MLN008 Melanoma 76 3.547
29
TRM010 Traumatic Brain Injury 51 3.518
30
P CMP008 Compartment Syndrome 50 3.479
31
P RTN024 Retinoblastoma 73 3.449
32
GLB002 Glioblastoma 67 3.352
33
P LNG032 Lung Cancer 98 3.331
34
P CRD119 Cardiac Arrest 67 3.313
35
CRM001 Crimean-Congo Hemorrhagic Fever 51 3.283
36
BRR014 Barrett Esophagus 66 3.214
37
ART016 Aortic Aneurysm 68 3.191
38
P ACT105 Acute Mountain Sickness 52 3.141
39
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 3.132
40
URT010 Ureteral Obstruction 45 3.093
41
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 3.093
42
GLL048 Glial Tumor 52 3.054
43
GLM045 Glioma 63 3.054
44
P RHM011 Rheumatoid Arthritis 82 3.039
45
P ART022 Arthritis 71 3.039
46
RNL077 Renal Fibrosis 46 2.970
47
P LYS001 Loeys-Dietz Syndrome 65 2.925
48
PRP016 Paraplegia 52 2.890
49
BRN071 Brain Injury 50 2.879
50
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 2.875
51
c MCR130 Microvascular Complications of Diabetes 6 41 2.874
52
c MCR120 Microvascular Complications of Diabetes 7 47 2.874
53
c MCR113 Microvascular Complications of Diabetes 3 52 2.874
54
c MCR133 Microvascular Complications of Diabetes 4 41 2.874
55
P HMN010 Hemangioma 62 2.846
56
HYP266 Hypoxia 57 2.846
57
CRD132 Cardiac Conduction Defect 60 2.831
58
NNL005 Non-Alcoholic Fatty Liver Disease 63 2.783
59
P SPP010 Suppressor of Tumorigenicity 3 51 2.663
60
OST012 Osteoarthritis 77 2.663
61
EXN003 Exencephaly 30 2.629
62
P TRC086 Trichohepatoenteric Syndrome 1 59 2.614
63
47X002 47,xyy 48 2.603
64
MTN003 Motion Sickness 51 2.602
65
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 2.575
66
PNM008 Pneumothorax 54 2.575
67
SVR004 Severe Combined Immunodeficiency 72 2.537
68
NRL016 Neural Tube Defects 81 2.514
69
OST159 Osteogenic Sarcoma 66 2.514
70
LYM009 Lymphocytic Choriomeningitis 46 2.491
71
SKN019 Skin Melanoma 71 2.479
72
SVR001 Severe Acute Respiratory Syndrome 67 2.461
73
MRF001 Marfan Syndrome 76 2.460
74
P DRR001 Diarrhea 55 2.444
75
ART002 Arts Syndrome 66 2.412
76
PLM010 Pulmonary Edema 55 2.407
77
HYP056 Hypoglycemia 65 2.400
78
c PCH010 Pachyonychia Congenita 3 43 2.350
79
EXR010 Exercise-Induced Bronchoconstriction 34 2.346
80
PNC041 Pancreatic Ductal Adenocarcinoma 51 2.346
81
ESP021 Esophageal Cancer 83 2.294
82
c SML038 Small Cell Cancer of the Lung 69 2.292
83
ANR007 Anorexia Nervosa 60 2.231
84
ORF053 Orofacial Clefting Syndrome 31 2.231
85
ACT098 Acute Erythroid Leukemia 55 2.187
86
c HYP836 Hypercholesterolemia, Familial, 1 73 2.187
87
P OST028 Osteochondroma 45 2.187
88
c RTN234 Retinitis Pigmentosa 90 23 2.168
89
ANR040 Aneurysm 61 2.168
90
P OVR042 Ovarian Cancer 88 2.153
91
c ATM024 Autoimmune Pancreatitis 52 2.131
93
P PNC044 Pancreatitis 61 2.131
94
QDR001 Quadriplegia 50 2.131
95
P THR014 Thrombocytopenia 66 2.116
96
FRY006 Fryns Microphthalmia Syndrome 52 2.102
97
PLM033 Pulmonary Embolism 58 2.102
98
P AVS003 Avascular Necrosis 41 2.073
99
MYL009 Myelodysplastic Syndrome 67 2.073
100
HRW001 Hair Whorl 35 2.073
101
GLC003 Glucose Intolerance 54 2.073
102
P ADN016 Adenocarcinoma 63 2.073
103
MTB004 Metabolic Acidosis 48 2.033
104
MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 43 2.033
105
P HRT032 Heart Disease 81 2.033
106
CLF027 Cleft Palate, Isolated 64 2.012
107
OST003 Osteonecrosis 61 2.012
108
MCR017 Macrocytic Anemia 44 2.012
109
GST040 Gastric Adenocarcinoma 67 1.984
110
P SLP003 Salpingitis 40 1.965
111
STR067 Stroke, Ischemic 80 1.959
112
c AVS006 Avascular Necrosis of Femoral Head, Primary, 1 42 1.949
113
P MYP006 Myopia 56 1.949
114
P HYP086 Hypothyroidism 69 1.949
115
HYP457 Hypertrophic Scars 42 1.883
116
DRM014 Dermatofibrosarcoma Protuberans 65 1.883
117
P MSC005 Muscular Dystrophy 67 1.883
118
P FBR017 Fibrosarcoma 56 1.883
119
P SYS005 Systemic Scleroderma 74 1.883
120
ART074 Aortic Dissection 53 1.881
121
GST045 Gastroenteritis 58 1.881
122
PRP030 Purpura 54 1.866
123
CLF001 Cleft Lip 53 1.814
124
KRT009 Keratosis 53 1.814
125
MNT308 Mental Retardation with Optic Atrophy, Deafness, and Seizures 29 1.797
126
P ART067 Aortic Aneurysm, Familial Thoracic 1 61 1.797
127
HYP017 Hypophosphatemia 49 1.797
128
CRN017 Coronary Thrombosis 46 1.797
129
MSL001 Measles 61 1.797
130
c CHR064 Chronic Monocytic Leukemia 36 1.782
131
CRD223 Cardiac Arrhythmia 63 1.740
132
TND005 Tendinitis 54 1.740
133
CLB010 Coloboma of Macula 53 1.740
134
P HPT023 Hepatocellular Carcinoma 96 1.740
135
P ACT008 Actinic Keratosis 54 1.740
136
PNC129 Pancreatic Adenocarcinoma 65 1.740
137
HMP005 Hemiplegia 54 1.740
138
OPS001 Opisthorchiasis 41 1.740
139
P KDN017 Kidney Cancer 61 1.706
140
P PRS040 Prostate Cancer 95 1.677
141
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 1.669
142
GRN022 Granulosa Cell Tumor of the Ovary 34 1.662
143
THY128 Thyroid Tumor 35 1.662
144
CHR100 Chronic Ulcer of Skin 57 1.662
145
AST006 Astigmatism 47 1.662
146
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 1.662
147
PTR032 Peters-Plus Syndrome 63 1.662
148
THY029 Thyroid Carcinoma 51 1.662
149
CLF056 Cleft Lip with or Without Cleft Palate 42 1.662
150
P INF038 Influenza 68 1.662
151
P DNG005 Dengue Virus 56 1.662
152
DVL001 Developmental Coordination Disorder 34 1.662
153
DVL005 Developmental Dyspraxia 22 1.662
154
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 1.658
155
c CHR684 Chronic Kidney Disease 69 1.658
156
48X005 48,xyyy 39 1.605
157
AGN016 Aging 54 1.578
158
P EXN002 Exanthem 58 1.578
159
c GLM047 Glioma Susceptibility 3 33 1.578
160
c ACT249 Acute Asthma 40 1.578
162
ORL015 Oral Squamous Cell Carcinoma 43 1.578
163
LYM021 Lymphadenitis 56 1.578
164
SQM006 Squamous Cell Carcinoma 60 1.578
165
ADL002 Adult Syndrome 70 1.535
166
P MYC007 Myocardial Infarction 70 1.490
167
P PLM036 Pulmonary Fibrosis 66 1.490
168
OTT002 Otitis Media 71 1.487
169
PRP027 Peripheral Vascular Disease 71 1.487
170
P ATR011 Atrial Fibrillation 66 1.487
171
CLR108 Colorectal Adenoma 64 1.487
172
P CRP001 Carpal Tunnel Syndrome 66 1.487
173
P ORT004 Orthostatic Intolerance 63 1.487
174
MDD018 Middle East Respiratory Syndrome 44 1.487
175
P RHB003 Rhabdomyosarcoma 66 1.487
176
P EPL164 Epilepsy 68 1.487
177
VCC001 Vaccinia 47 1.487
178
ADN018 Adenoma 59 1.487
179
PPL022 Papilloma 53 1.487
180
P BLN001 Blount's Disease 36 1.487
181
IRN002 Iron Metabolism Disease 57 1.487
182
AMN003 Amnestic Disorder 54 1.483
183
P PRS038 Personality Disorder 65 1.460
184
OBS082 Obstructive Nephropathy 41 1.420
185
CLN015 Colon Adenocarcinoma 65 1.420
186
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 1.385
187
P LKM071 Leukemia, Chronic Lymphocytic 75 1.385
188
c ATR087 Atrial Standstill 1 74 1.385
189
WTH001 Withdrawal Disorder 48 1.385
190
c HPT073 Hepatitis C Virus 71 1.385
191
CLB022 Coloboma, Ocular, Autosomal Recessive 28 1.385
192
DWN001 Down Syndrome 70 1.385
193
INT002 Intermittent Claudication 61 1.385
194
c HPT001 Hepatitis C 62 1.385
195
CRV040 Cervix Carcinoma 50 1.385
196
TTN003 Tetanus 65 1.385
197
OST016 Osteochondrosis 52 1.385
198
P HDC001 Headache 57 1.385
199
P PLY014 Polycystic Kidney Disease 69 1.354
200
LRG008 Large Granular Lymphocyte Leukemia 34 1.354
201
c ATS347 Autosomal Dominant Polycystic Kidney Disease 66 1.354
202
P NTR004 Neutropenia 63 1.354
203
P RSP003 Respiratory Failure 74 1.354
204
PLM031 Poliomyelitis 63 1.354
205
SPN035 Spindle Cell Sarcoma 54 1.337
206
P CLR023 Colorectal Cancer 100 1.333
207
P BCL017 B-Cell Lymphoma 59 1.284
208
P HRP006 Herpes Simplex 65 1.284
209
CMB007 Combined Immunodeficiency 57 1.284
210
IDP069 Idiopathic Avascular Necrosis 23 1.271
211
ATH013 Atherosclerosis Susceptibility 63 1.271
212
P ATX030 Ataxia-Telangiectasia 80 1.271
213
SPS007 Spastic Cerebral Palsy 46 1.271
214
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 1.271
215
GST019 Gastrointestinal Stromal Tumor 78 1.271
216
P MSC003 Muscular Atrophy 52 1.271
217
P NRP001 Neuropathy 60 1.271
218
P OST009 Osteochondritis Dissecans 62 1.271
219
CMM005 Common Cold 56 1.271
220
TLN003 Telangiectasis 51 1.271
221
MSN004 Mesenchymal Cell Neoplasm 42 1.271
222
P PTS002 Ptosis 52 1.271
223
LNG039 Lung Squamous Cell Carcinoma 57 1.262
224
RHB024 Rhabdomyosarcoma 2 67 1.260
225
THR100 Thrombocytopenic Purpura, Autoimmune 61 1.260
226
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 60 1.260
227
ACT113 Acute Myeloblastic Leukemia with Maturation 46 1.260
228
P AST005 Asthma 76 1.211
229
c BRN108 Branchiootic Syndrome 1 62 1.211
230
HYP066 Hyperglycemia 61 1.211
231
MCS002 Mucositis 56 1.211
232
ISC004 Ischemia 61 1.211
233
NRM005 Neuromuscular Disease 63 1.176
234
ACT186 Acute Megakaryoblastic Leukemia in Down Syndrome 15 1.135
235
TRS030 Tarsal Coalition 25 1.135
236
PNG002 Pain Agnosia 51 1.135
237
TRS001 Tarsal Tunnel Syndrome 26 1.135
238
ANT010 Anterior Compartment Syndrome 22 1.135
239
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 50 1.135
240
GRD001 Giardiasis 46 1.135
241
P ADL010 Adult Respiratory Distress Syndrome 71 1.135
242
CGH002 Cough Headache 16 1.135
243
PRT251 Proteinuria, Chronic Benign 57 1.133
244
P LKM062 Leukemia, Acute Lymphoblastic 69 1.133
245
NPH091 Nephrolithiasis, Calcium Oxalate 61 1.133
246
NPH009 Nephrolithiasis 54 1.133
247
HLX001 Helix Syndrome 48 1.133
248
P HYP265 Hypotonia 42 1.133
249
ATM095 Autoimmune Disease 61 1.049
250
INT394 Intermittent Asthma 21 1.049
251
P SNS001 Sensorineural Hearing Loss 59 1.049
252
P HYP061 Hypertrophic Cardiomyopathy 69 1.049
253
HMR002 Hemarthrosis 44 1.049
254
P GLM007 Glomerulonephritis 60 1.049
255
P GLM040 Glioma Susceptibility 1 71 1.024
256
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 0.957
257
LMB062 Limb Ischemia 55 0.957
258
LPP008 Lipoprotein Quantitative Trait Locus 65 0.957
259
P URN019 Urinary Tract Infection 49 0.957
260
HND015 Hand Skill, Relative 30 0.957
261
P SCL018 Scoliosis 57 0.957
262
OST017 Osteomyelitis 63 0.957
263
P KDN018 Kidney Disease 72 0.957
264
HRT011 Heart Septal Defect 49 0.957
265
TRC078 Trichohepatoenteric Syndrome 2 34 0.957
266
CRB004 Cerebral Artery Occlusion 45 0.957
267
TCL027 T-Cell Acute Lymphoblastic Leukemia 51 0.957
268
ATR024 Atrial Fibrillation and Stroke 22 0.957
269
c SCL052 Scleroderma, Familial Progressive 61 0.957
270
ANG054 Angina Pectoris 66 0.957
271
SCR020 Sacral Defect with Anterior Meningocele 59 0.957
272
c HNT011 Huntington Disease-Like 3 34 0.957
273
c HNT004 Huntington Disease-Like 2 52 0.957
274
P EST001 Estrogen-Receptor Positive Breast Cancer 49 0.957
275
FBR054 Fibroma 44 0.957
276
ULN001 Ulnar Neuropathy 28 0.957
277
P EPD009 Epidermolysis Bullosa Dystrophica 66 0.957
278
GSG001 Gas Gangrene 52 0.957
279
ALL010 Allergic Contact Dermatitis 56 0.957
280
HYP005 Hypokalemia 55 0.957
281
ACT084 Acute Stress Disorder 54 0.957
282
INT071 Intestinal Perforation 49 0.957
283
PLC002 Plica Syndrome 35 0.957
284
FRZ001 Frozen Shoulder 55 0.957
285
NRT004 Neuritis 53 0.957
286
CHN010 Chondroma 43 0.957
287
IRR003 Irritant Dermatitis 47 0.957
288
GST033 Gestational Diabetes 61 0.957
289
BRN024 Bronchitis 67 0.957
290
OSG001 Osgood-Schlatter's Disease 38 0.957
291
SYN007 Synovitis 55 0.957
292
P EPD016 Epidermolysis Bullosa 53 0.957
293
CNT047 Contact Dermatitis 57 0.957
294
PST028 Post-Traumatic Stress Disorder 59 0.957
295
PRS063 Paresthesia 39 0.957
296
ENC014 Enchondroma 28 0.957
297
ART140 Arteries, Anomalies of 53 0.856
298
P CRN300 Coronary Heart Disease 1 73 0.856
299
SPN438 Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy 36 0.856
300
PLY150 Polykaryocytosis Inducer 29 0.856
301
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.856
302
DFF005 Diffuse Large B-Cell Lymphoma 54 0.856
303
KRT019 Keratitis, Hereditary 66 0.856
304
WST005 West Nile Virus 57 0.856
305
HYP748 Hypertelorism 46 0.856
306
PCT003 Pectus Excavatum 46 0.856
307
P FML361 Familial Woolly Hair Syndrome 49 0.856
308
TRN074 Turnpenny-Fry Syndrome 32 0.856
309
c ACT073 Acute Leukemia 58 0.856
310
P LPS004 Lupus Erythematosus 61 0.856
311
P ALC033 Alcohol Use Disorder 61 0.856
312
MRK001 Merkel Cell Carcinoma 64 0.856
313
P LTR001 Lateral Sclerosis 58 0.856
314
EPC002 Epicondylitis 44 0.856
315
P ATR010 Atrial Heart Septal Defect 58 0.856
316
CNG034 Congestive Heart Failure 69 0.856
317
THY020 Thyroid Hyalinizing Trabecular Adenoma 20 0.856
318
HYP706 Hypermobile Ehlers-Danlos Syndrome 55 0.856
319
c TYP008 Type 1 Diabetes Mellitus 70 0.842
320
P CNR004 Cone-Rod Dystrophy 2 74 0.842
321
P ANR048 Aniridia 1 64 0.842
322
P DBT009 Diabetes Mellitus 67 0.842
323
P TRN020 Turner Syndrome 67 0.842
324
END057 Endometrial Cancer 72 0.834
325
SPN019 Spondylolisthesis 52 0.748
326
P ART018 Aortic Valve Insufficiency 52 0.748
327
PRT036 Peritonitis 65 0.748
328
ENT004 Enthesopathy 51 0.748
329
CLF004 Cleft Lip/palate 57 0.742
330
P BLD134 Bladder Cancer 79 0.742
331
ACR008 Acrocallosal Syndrome 70 0.742
332
P PRK057 Parkinson Disease, Late-Onset 80 0.742
333
P PLM037 Pulmonary Hypertension 72 0.742
334
DFC004 Deficiency Anemia 74 0.742
335
CVD001 Covid-19 57 0.742
336
INF034 Infective Endocarditis 54 0.742
337
RSP021 Respiratory Allergy 41 0.742
338
c RTN041 Retinitis Pigmentosa 11 42 0.742
339
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 67 0.742
340
EWN003 Ewing Sarcoma 70 0.742
341
HRN029 Hearing Loss, Noise-Induced 37 0.742
342
MYL069 Myeloma, Multiple 77 0.742
343
P ATT013 Attention Deficit-Hyperactivity Disorder 64 0.742
345
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.742
346
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.742
348
P AMY004 Amyloidosis 70 0.742
349
P NRB001 Neuroblastoma 66 0.742
350
P MYP004 Myopathy 67 0.742
351
NRN001 Neuroendocrine Carcinoma 47 0.742
352
SBC003 Subacute Bacterial Endocarditis 33 0.742
353
RCK004 Rickets 68 0.742
354
ANG020 Angiosarcoma 64 0.742
355
c ACT068 Acute Cystitis 61 0.742
356
SQM002 Squamous Cell Papilloma 46 0.742
357
c BSL007 Basal Cell Carcinoma 68 0.742
358
CLB002 Clubfoot 51 0.742
359
P END044 Endometriosis 62 0.742
360
CNG046 Congenital Fiber-Type Disproportion 53 0.742
361
P RHN004 Rhinitis 57 0.742
362
BNN003 Bone Inflammation Disease 48 0.742
363
P BNG032 Benign Mesothelioma 53 0.742
364
AMN001 Amenorrhea 54 0.742
365
HYP080 Hypogonadism 50 0.742
366
TNS014 Tenosynovitis 46 0.742
367
P CLS010 Cluster Headache 42 0.742
368
P ATS364 Autism 69 0.605
369
LYM133 Lymphoma, Hodgkin, Classic 74 0.605
370
ISL109 Isolated Cleft Lip 33 0.605
371
SPN340 Spontaneous Intracranial Hypotension 27 0.605
372
MDR006 Moderate and Severe Traumatic Brain Injury 27 0.605
373
P OVR082 Overgrowth Syndrome 49 0.605
374
P ALZ034 Alzheimer Disease 87 0.605
375
P NSP012 Nasopharyngeal Carcinoma 61 0.605
376
RTC012 Reticuloendotheliosis, X-Linked 35 0.605
377
SMT008 Smith-Magenis Syndrome 54 0.605
378
SCH037 Schinzel-Giedion Midface Retraction Syndrome 41 0.605
379
ALL003 Allergic Rhinitis 67 0.605
380
c DFN352 Deafness, Autosomal Recessive 8 37 0.605
381
INT146 Intervertebral Disc Disease 63 0.605
382
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 0.605
383
LNT004 Lentigines 46 0.605
384
MLT152 Multiple Self-Healing Squamous Epithelioma 45 0.605
385
c SPN225 Spondyloarthropathy 1 70 0.605
386
CYS001 Cystic Fibrosis 78 0.605
387
HYP781 Hypoascorbemia 52 0.605
388
c ORF014 Orofacial Cleft 5 21 0.605
389
P MCL001 Mucolipidosis 49 0.605
390
APH002 Aphasia 56 0.605
391
THR024 Thrombosis 56 0.605
392
P ASP001 Asperger Syndrome 48 0.605
393
LYM143 Lymphoma, Non-Hodgkin, Familial 75 0.605
394
ENT011 Enterocolitis 55 0.605
395
c ORF048 Orofacial Cleft 1 30 0.605
396
c NRF024 Neurofibromatosis, Type I 72 0.605
397
JVN004 Juvenile Myelomonocytic Leukemia 67 0.605
398
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 60 0.605
399
c NMN014 Niemann-Pick Disease, Type C2 49 0.605
400
P FLL037 Follicular Lymphoma 74 0.605
401
PRT037 Pertussis 65 0.605
402
P LFT003 Left Ventricular Noncompaction 57 0.605
403
INT003 Intracranial Hypotension 36 0.605
404
P TRM003 Tremor 48 0.605
405
P HYP098 Hypereosinophilic Syndrome 66 0.605
406
SYN036 Syncope 45 0.605
407
P VNT002 Ventricular Septal Defect 58 0.605
408
SKN016 Skin Disease 63 0.605
409
SPN051 Spondylitis 51 0.605
410
LNG099 Lung Disease 62 0.605
411
RDC002 Radiculopathy 52 0.605
412
INF009 Inflammatory Spondylopathy 30 0.605
413
CRT013 Carotid Stenosis 51 0.605
414
CNS004 Constipation 56 0.605
415
SPN029 Spondylolysis 39 0.605
416
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.605
417
IMP005 Impotence 52 0.605
418
HGH043 High Grade Glioma 45 0.605
419
SCH014 Schistosomiasis 56 0.605
420
ING001 Inguinal Hernia 59 0.605
421
P HRN001 Horner's Syndrome 46 0.605
422
PTL003 Patellar Tendinitis 29 0.605
423
ESP020 Esophageal Atresia 60 0.605
424
SPT004 Septic Arthritis 58 0.605
425
c ACT071 Acute Kidney Failure 60 0.605
426
LPD008 Lipid Metabolism Disorder 62 0.605
427
DRM006 Dermatitis 62 0.605
428
PTN001 Patent Foramen Ovale 62 0.605
429
MNN017 Mononeuropathy 41 0.605
430
ANK001 Ankylosis 51 0.605
431
KLD004 Keloid Disorder 39 0.605
432
P NRF002 Neurofibromatosis 57 0.605
433
P MYC008 Myocarditis 59 0.605
434
P CHR345 Chronic Pain 50 0.605
435
FTD001 Foot Drop 35 0.605
436
OVR077 Overuse Syndrome 16 0.605
437
P NNS072 Nonsyndromic Hearing Loss 40 0.605
438
HMP009 Haemophilus Influenzae 41 0.605
439
CHR178 Chromosomal Triplication 34 0.605
440
OVR094 Ovarian Epithelial Cancer 39 0.605
441
GGN002 Gigantism 33 0.605
442
PRN019 Perinatal Necrotizing Enterocolitis 60 0.605
443
PPL049 Papillon-Lefevre Syndrome 66 0.596
444
c TYP009 Type 2 Diabetes Mellitus 92 0.596
445
CLC008 Colchicine Resistance 33 0.596
446
P MLG074 Malignant Mesenchymoma 40 0.596
447
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.596
448
CRB009 Cerebritis 43 0.596
449
SPS003 Spastic Diplegia 53 0.596
450
SFT003 Soft Tissue Sarcoma 57 0.596
451
P PRM327 Primary Lymphedema 36 0.529
452
BRT054 Brittle Bone Disorder 74 0.529
453
c THR092 Thrombophilia Due to Thrombin Defect 74 0.529
454
MLR004 Malaria 80 0.529
455
IGR001 Ige Responsiveness, Atopic 59 0.529
456
SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 36 0.529
457
c ACT075 Acute Myocardial Infarction 56 0.529
458
ULC004 Ulcerative Colitis 74 0.529
459
c DRR018 Diarrhea 9 25 0.529
460
P END033 Endocarditis 58 0.529
461
FLY001 Flying Phobia 26 0.529
462
P RTN018 Retinal Disease 53 0.529
463
BRN002 Bronchiolitis 57 0.529
464
ARC025 Arachnoid Cysts, Intracranial 37 0.428
465
c HMC039 Hemochromatosis, Type 1 73 0.428
466
FMR013 Femoral Agenesis/hypoplasia 13 0.428
467
P OTT001 Otitis Externa 42 0.428
468
LSS003 Lassa Fever 49 0.428
469
AMB007 Amoebic Keratitis 19 0.428
470
SRT004 Serotonin Syndrome 54 0.428
471
PLY100 Polyploidy 36 0.428
472
P SZR006 Seizure Disorder 70 0.428
473
SDD008 Sudden Sensorineural Hearing Loss 41 0.428
474
SPS057 Spasticity 42 0.428
475
c ACT134 Acute Liver Failure 59 0.428
476
DRV001 Dravet Syndrome 69 0.428
477
RST023 Resting Heart Rate, Variation in 40 0.428
478
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.428
479
SQM013 Squamous Cell Carcinoma, Head and Neck 73 0.428
480
P LPR021 Leprosy 3 71 0.428
481
HDC005 Headache Associated with Sexual Activity 17 0.428
482
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.428
483
c DRM040 Dermatitis Herpetiformis, Familial 35 0.428
484
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.428
485
ANX010 Anxiety 70 0.428
486
RTN017 Retinal Detachment 60 0.428
487
c LYM144 Lymphatic Malformation 1 47 0.428
488
P MYS005 Myositis 56 0.428
489
PPL052 Papillomatosis, Confluent and Reticulated 34 0.428
490
c SYS001 Systemic Lupus Erythematosus 87 0.428
491
c OPT053 Optic Atrophy 1 62 0.428
492
c PRG042 Progressive Familial Heart Block, Type Ia 66 0.428
493
FBR032 Fibromuscular Dysplasia 48 0.428
494
ANS021 Anisocoria 25 0.428
495
SYR010 Syringomyelia, Noncommunicating Isolated 36 0.428
496
THM005 Thumb Deformity 32 0.428
497
c MST023 Mesothelioma, Malignant 56 0.428
498
c MGR028 Migraine with or Without Aura 1 64 0.428
499
OCL008 Oculopharyngeal Muscular Dystrophy 53 0.428
500
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.428
501
HYP540 Hypertension, Diastolic 37 0.428
502
TND004 Tendinopathy 45 0.428
503
P RST001 Restless Legs Syndrome 52 0.428
504
FCL022 Focal Dystonia 42 0.428
505
c MJR022 Major Affective Disorder 8 38 0.428
506
P INF037 Inflammatory Bowel Disease 53 0.428
507
ATR057 Atrioventricular Block 54 0.428
508
CHK001 Chikungunya 60 0.428
509
ANS006 Anosognosia 34 0.428
510
P CRB045 Cerebellar Hypoplasia 40 0.428
511
CLS016 Clostridium Difficile Colitis 49 0.428
512
c HRD007 Hereditary Lymphedema 34 0.428
513
P SML001 Small Cell Carcinoma 52 0.428
514
P CHN012 Chondrosarcoma 57 0.428
515
IMM167 Immune Deficiency Disease 78 0.428
516
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.428
517
KLD003 Keloid Formation 34 0.428
518
LMY014 Leiomyoma, Uterine 56 0.428
519
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.428
520
c PRG043 Progressive Familial Heart Block, Type Ib 54 0.428
521
LNG108 Langerhans Cell Histiocytosis 58 0.428
522
LPT014 Leptin Deficiency or Dysfunction 78 0.428
523
c BRD011 Bardet-Biedl Syndrome 10 49 0.428
524
MLC004 Mulchandani-Bhoj-Conlin Syndrome 51 0.428
525
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.428
526
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.428
527
c MJR024 Major Affective Disorder 9 41 0.428
529
c THR048 Thrombocytopenia 4 28 0.428
530
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.428
531
MLL018 Miller-Dieker Lissencephaly Syndrome 52 0.428
532
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 42 0.428
533
EBS001 Ebstein Anomaly 55 0.428
534
WLF002 Wolf-Hirschhorn Syndrome 57 0.428
535
c WLM013 Wilms Tumor 1 66 0.428
536
OST160 Osteoid Osteoma 37 0.428
537
c TRC092 Trichorhinophalangeal Syndrome, Type I 54 0.428
538
SCH072 Scheuermann Disease 42 0.428
539
KRT071 Keratosis, Seborrheic 56 0.428
540
c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63 0.428
541
P CLD001 Cleidocranial Dysplasia 64 0.428
542
P MDL005 Medulloblastoma 75 0.428
543
CHL065 Cholangiocarcinoma 58 0.428
544
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 0.428
545
EST002 Estrogen-Receptor Negative Breast Cancer 45 0.428
546
MNN043 Meningioma, Familial 79 0.428
547
DSS032 Disease by Infectious Agent 55 0.428
548
STT041 Stuttering 52 0.428
549
CLR109 Colorectal Adenocarcinoma 50 0.428
550
c PRM340 Primary Adrenal Insufficiency 38 0.428
552
LMY002 Leiomyoma 51 0.428
553
BNS007 Bone Sarcoma 51 0.428
554
P CHR285 Chronic Myelomonocytic Leukemia 60 0.428
555
RPD005 Rapidly Involuting Congenital Hemangioma 46 0.428
556
P HYP083 Hypopituitarism 52 0.428
557
P HLP001 Holoprosencephaly 69 0.428
558
URM002 Uremia 47 0.428
559
BRN004 Brain Edema 54 0.428
560
P FBR003 Fibrous Histiocytoma 43 0.428
561
PRS042 Prostate Disease 42 0.428
562
P DYS154 Dystonia 64 0.428
563
CMP010 Complex Regional Pain Syndrome 60 0.428
564
P LCH002 Lichen Planus 54 0.428
565
P PSR002 Psoriasis 63 0.428
566
CRT008 Carotid Artery Dissection 29 0.428
567
EXP004 Exophthalmos 51 0.428
568
P VSC011 Vasculitis 61 0.428
569
LRN003 Learning Disability 49 0.428
570
VRL011 Viral Infectious Disease 61 0.428
571
P MLG056 Malignant Hyperthermia 66 0.428
572
CHR074 Choriocarcinoma 46 0.428
573
P MVM001 Movement Disease 61 0.428
574
PRN008 Peroneal Nerve Paralysis 24 0.428
575
PST092 Posttransplant Acute Limbic Encephalitis 28 0.428
576
SYS071 Systemic Autoimmune Disease 35 0.428
577
FML307 Familial Calcium Pyrophosphate Deposition 38 0.428
578
c PRG106 Progressive Muscular Dystrophy 32 0.428
579
SKL002 Skeletal Muscle Neoplasm 25 0.428
580
P BPL003 Bipolar Disorder 56 0.428
581
HST010 Histiocytosis 49 0.428
582
P BRS044 Breast Adenocarcinoma 58 0.428
583
AVD001 Avoidant Personality Disorder 49 0.428
584
GNG008 Ganglioneuroblastoma 47 0.428
585
RHB001 Rhabdoid Cancer 68 0.428
586
PLX004 Plexopathy 29 0.428
587
PLS011 Plasmacytoma 56 0.428
588
P ART023 Arthropathy 61 0.428
589
CNN005 Connective Tissue Disease 67 0.428
590
ILS001 Ileus 50 0.428
591
PST011 Pustulosis of Palm and Sole 52 0.428
592
RTR001 Retrograde Amnesia 41 0.428
593
SCR001 Secretory Meningioma 40 0.428
594
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.428
595
MLG079 Malignant Pleural Mesothelioma 42 0.428
596
INF013 Inferior Myocardial Infarction 33 0.428
597
FBR047 Fibromyalgia 58 0.428
598
P CTR002 Cataract 60 0.428
599
P PLL002 Pellagra 46 0.428
600
P CRN028 Corneal Ulcer 47 0.428
601
c LCL006 Localized Scleroderma 65 0.428
602
ACT055 Actinomycosis 55 0.428
603
BNG036 Bone Giant Cell Tumor 49 0.428
604
P DRM007 Dermatitis Herpetiformis 54 0.428
605
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.428
606
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 0.428
607
OTM001 Otomycosis 28 0.428
608
PRM004 Primary Amebic Meningoencephalitis 27 0.428
609
GRN004 Granulomatous Amebic Encephalitis 30 0.428
610
P CHR071 Charcot-Marie-Tooth Disease 64 0.428
611
P MGR001 Migraine Without Aura 49 0.428
612
c DLT002 Dilated Cardiomyopathy 78 0.428
613
END021 Endomyocardial Fibrosis 56 0.428
614
P DMN002 Dementia 66 0.428
615
P UVT001 Uveitis 57 0.428
616
CRY005 Cryptococcosis 60 0.428
617
LWC001 Low Compliance Bladder 45 0.428
618
P GLL022 Guillain-Barre Syndrome 60 0.428
619
HRY003 Hairy Cell Leukemia 61 0.428
620
TXC005 Toxic Shock Syndrome 62 0.428
621
P VSC007 Vascular Disease 63 0.428
622
c MLG084 Malignant Fibrous Histiocytoma 62 0.428
623
P RNL007 Renal Tubular Acidosis 50 0.428
624
EXS001 Exostosis 49 0.428
625
CRN027 Corneal Neovascularization 47 0.428
626
P NPH012 Nephrotic Syndrome 60 0.428
627
c HPT015 Hepatitis D 49 0.428
628
MYL031 Myeloproliferative Neoplasm 66 0.428
629
FCL014 Focal Epilepsy 53 0.428
630
MLG169 Malignant Astrocytoma 57 0.428
631
FCL012 Facial Paralysis 49 0.428
632
P AGM001 Agammaglobulinemia 68 0.428
633
P GLY013 Glycogen Storage Disease 60 0.428
634
DPH001 Diphtheria 59 0.428
635
FLR002 Filariasis 55 0.428
636
P HYD006 Hydrocephalus 61 0.428
637
P MYG005 Myoglobinuria 40 0.428
638
TTH004 Tethered Spinal Cord Syndrome 41 0.428
639
P MCR010 Microcephaly 60 0.428
640
TTH006 Tooth Disease 51 0.428
641
P CHN059 Chondrocalcinosis 52 0.428
642
MNN009 Meningoencephalitis 48 0.428
643
MYS001 Myositis Ossificans 44 0.428
644
CRB039 Cerebrovascular Disease 66 0.428
645
INT079 Intrahepatic Cholangiocarcinoma 51 0.428
646
P INF032 Infertility 57 0.428
647
P PRP019 Peripheral Nervous System Disease 58 0.428
648
P PNM007 Pneumonia 67 0.428
649
PRM020 Premenstrual Tension 39 0.428
650
P CYS039 Cystic Kidney Disease 53 0.428
651
FCL001 Facial Dermatosis 35 0.428
652
INT066 Interstitial Lung Disease 60 0.428
653
P CTS001 Cutis Laxa 65 0.428
654
P SYR001 Syringomyelia 47 0.428
655
MDD011 Mood Disorder 62 0.428
656
CRY004 Cryoglobulinemia 48 0.428
657
NRL002 Neurilemmomatosis 52 0.428
658
DMY004 Demyelinating Disease 50 0.428
659
ORL005 Oral Candidiasis 56 0.428
660
SHL001 Shoulder Impingement Syndrome 35 0.428
661
ENP001 Enophthalmos 39 0.428
662
P EHL001 Ehlers-Danlos Syndrome 58 0.428
663
CHL068 Cholestasis 61 0.428
664
PHT002 Photokeratitis 28 0.428
665
P ART005 Arteriovenous Malformation 65 0.428
666
SPN021 Spinal Meningioma 50 0.428
667
P URT039 Urticaria 58 0.428
668
P CRD246 Cardiovascular System Disease 56 0.428
669
RGH001 Right Bundle Branch Block 47 0.428
670
LPT001 Leptospirosis 66 0.428
671
P LMY004 Leiomyosarcoma 62 0.428
672
P BNG095 Benign Giant Cell Tumor 43 0.428
673
NRM004 Neuroma 49 0.428
674
P CNG024 Congenital Nystagmus 36 0.428
675
P INS002 in Situ Carcinoma 53 0.428
676
P MNN013 Meningitis 65 0.428
677
INV005 Inverted Follicular Keratosis 32 0.428
678
NNS010 Nonsyndromic Hearing Loss and Deafness, Mitochondrial 13 0.428
679
P CLS054 Classic Ehlers-Danlos Syndrome 57 0.428
680
c CLD019 Cleidocranial Dysplasia Spectrum Disorder 20 0.428
681
DCB001 Decubitus Ulcer 62 0.428
682
PTH003 Pathologic Nystagmus 52 0.428
683
HYD005 Hydrocele 46 0.428
684
P ENC004 Encephalitis 61 0.428
685
P HMP007 Hemophilia 52 0.428
686
HNS001 Hansen's Disease 32 0.428
687
KNB002 Kienbock's Disease 25 0.428
688
MNN020 Meningococcal Infection 45 0.428
689
NSS002 Neisseria Meningitidis Infection 47 0.428
690
ORL011 Oral Cancer 60 0.428
691
c XLN110 X-Linked Charcot-Marie-Tooth Disease 31 0.428
692
CNG486 Congenital Disorders of N-Linked Glycosylation and Multiple Pathway 29 0.428
693
GJB007 Gjb1 Disorders: Charcot Marie Tooth Neuropathy and Central Nervous System Phenotypes 6 0.428
694
P MTC069 Mitochondrial Disorders 57 0.428
695
CNT067 Central Cord Syndrome 21 0.428
696
RYN005 Raynaud Phenomenon 45 0.428
697
DYS073 Dysphagia 53 0.428
698
CNG529 Congenital Femoral Deficiency 14 0.428
699
c CNG439 Congenital Lymphedema 30 0.428
700
CYT002 Cytokine Deficiency 43 0.428
701
CRC034 Carcinoma Showing Thymus-Like Differentiation 22 0.428
702
PRN035 Perniosis 27 0.428
703
BKV001 Bk-Virus Nephropathy 22 0.428
704
CRB079 Cerebrospinal Fluid Leak 35 0.428
705
ESN011 Eisenmenger Syndrome 47 0.428
706
EXR007 Exercise-Induced Anaphylaxis 23 0.428
707
RTN123 Retinochoroidal Coloboma 18 0.428
708
SBC016 Subacute Delirium 43 0.428
709
PLG004 Plagiocephaly 40 0.428
710
ETN001 Eating Disorder 59 0.428
711
SML031 Small Cell Carcinoma of the Bladder 46 0.406
712
P TMR010 Tumor Predisposition Syndrome 67 0.406
713
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.406
714
ADN011 Adenoid Cystic Carcinoma 68 0.406
715
P LNG021 Lung Occult Small Cell Carcinoma 20 0.406
716
LNG019 Lung Combined Type Small Cell Carcinoma 32 0.406
717
ADN089 Adenosquamous Lung Carcinoma 49 0.406
718
BRN015 Bronchiolo-Alveolar Adenocarcinoma 55 0.406
Content
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