Search results for "LARGE"

3040 hits were found for 'LARGE'

# Family MCID Name MIFTS Score
1
c LRG009 Large-Related Muscle Diseases 7 6.590
2
c MSC005 Muscular Dystrophy 61 5.725
3
P CNG030 Congenital Muscular Dystrophy 67 5.672
4
P ANP001 Anaplastic Large Cell Lymphoma 62 5.650
5
DFF005 Diffuse Large B-Cell Lymphoma 55 4.615
6
WLK001 Walker-Warburg Syndrome 52 4.606
7
c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 18 4.600
8
TCL002 T-Cell Large Granular Lymphocyte Leukemia 47 4.384
9
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 24 3.984
10
RTC005 Reticulosarcoma 43 3.706
11
c LNG035 Lung Large Cell Carcinoma 22 3.696
12
LRG008 Large Granular Lymphocyte Leukemia 39 3.676
13
LYM048 Lymphoma, Large-Cell, Immunoblastic 9 3.672
14
INT221 Intravascular Large B-Cell Lymphoma 34 3.666
15
PRM163 Primary Mediastinal Large B-Cell Lymphoma 52 3.553
16
CRH001 Crohn's Disease 75 3.390
17
LRG005 Large Cell Carcinoma with Rhabdoid Phenotype 13 3.364
18
SYS006 Say Syndrome 29 3.350
19
LRG006 Large Bowel Leiomyoma 6 3.339
20
LRG007 Large Intestine Lipoma 6 3.339
21
c LRG001 Large Cell Carcinoma 48 3.282
22
BRN029 Brain Disease 57 3.269
23
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 51 3.261
24
P MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 47 3.261
25
c FKY001 Fukuyama Congenital Muscular Dystrophy 40 3.253
26
c MSC002 Muscular Dystrophy-Dystroglycanopathy 39 3.253
27
ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 38 3.179
28
ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 37 3.103
29
TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 22 3.103
30
PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 43 3.092
31
LRG003 Large Cell Medulloblastoma 27 3.030
32
ALK017 Alk-Positive Large B-Cell Lymphoma 17 3.022
33
LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 9 2.986
34
c THY005 Thymus Large Cell Carcinoma 8 2.986
35
c LNG006 Lung Occult Large Cell Carcinoma 7 2.986
36
c LRG014 Large Cell Neuroendocrine Carcinoma 45 2.941
37
PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 50 2.777
38
EPS031 Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly 17 2.663
39
c LRG002 Large Cell Acanthoma 15 2.654
40
NTR003 Natural Killer Cell Leukemia 56 2.611
41
OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 14 2.611
42
c LRG017 Large Intestine Cancer 14 2.606
43
CRV015 Cervical Large Cell Neuroendocrine Carcinoma 9 2.600
44
PTT019 Pituitary Dwarfism with Large Sella Turcica 6 2.600
45
LRG015 Large Intestine Adenoma 5 2.600
46
c LRG016 Large Intestine Adenocarcinoma 4 2.593
47
BRS024 Breast Large Cell Neuroendocrine Carcinoma 7 2.586
48
LRG004 Large Cell Keratinizing Variant Squamous Cell Breast Carcinoma 7 2.586
49
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 46 2.300
50
PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 30 2.224
51
DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 12 2.159
52
P FCL005 Focal Segmental Glomerulosclerosis 72 2.140
53
DFF030 Diffuse Large B-Cell Lymphoma with Chronic Inflammation 7 2.128
54
c PST022 Posterior Uveal Melanoma 53 2.120
55
PCH002 Pachygyria 42 2.120
56
ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 7 2.120
57
c ANP011 Anaplastic Small Cell Lymphoma 6 2.120
58
TRD003 Taurodontism 35 2.112
59
BLN004 Balantidiasis 30 2.112
60
ZCH001 Zechi Ceide Syndrome 15 2.112
61
LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 9 2.112
62
CNT020 Central Breast Papilloma 7 2.112
63
NTR035 Neutropenia - Hyperlymphocytosis with Large Granular Lymphocytes 3 2.112
64
ANP028 Anaplastic/large Cell Medulloblastoma 3 2.112
65
GRY001 Gray Zone Lymphoma 22 1.560
66
MDS006 Mediastinal Gray Zone Lymphoma 14 1.538
67
ENL001 Enlarged Vestibular Aqueduct 53 1.513
68
MLN054 Melanocytic Nevus Syndrome, Congenital, Somatic 32 1.513
69
ANN002 Anencephaly 58 1.504
70
c GRS007 Griscelli Syndrome Type 1 48 1.504
71
VLJ001 Viljoen Kallis Voges Syndrome 15 1.504
72
CRH005 Crohn's Colitis 51 1.493
73
GNT020 Giant Congenital Nevus 20 1.493
74
P HYP078 Hypertrophy of Breast 18 1.493
75
c SPR061 Spermatogenic Failure 5 16 1.493
76
CHR511 Charcot-Marie-Tooth Disease - Deafness - Intellectual Disability 11 1.493
77
CHR068 Chronic Nk-Cell Lymphocytosis 11 1.493
78
P BCL006 B-Cell Lymphomas 56 0.580
79
P LKM002 Leukemia 76 0.235
80
NRN001 Neuroendocrine Carcinoma 58 0.202
81
MDS022 Mediastinitis 45 0.158
82
c HPT021 Hepatitis 63 0.149
83
ANR040 Aneurysm 45 0.141
84
P ADN016 Adenocarcinoma 58 0.134
85
c THY032 Thyroiditis 65 0.130
86
ADN018 Adenoma 65 0.117
87
PRS047 Prostatitis 59 0.116
88
P BRS047 Breast Cancer 85 0.116
89
HDG007 Hodgkin's Lymphoma 93 0.112
90
P HYP075 Hypertension 85 0.107
91
NRN002 Neuronitis 43 0.106
92
P ART022 Arthritis 74 0.105
93
CRB009 Cerebritis 38 0.103
94
P FLL037 Follicular Lymphoma 47 0.101
95
c ATX004 Ataxia 58 0.099
96
END072 Endotheliitis 50 0.099
97
P RHM011 Rheumatoid Arthritis 94 0.096
98
P MLN008 Melanoma 64 0.094
99
LYM052 Lymphomatoid Papulosis 46 0.089
100
c PNC044 Pancreatitis 68 0.087
101
LPM004 Lipoma 65 0.086
102
P SCH015 Schizophrenia 84 0.085
103
VSC011 Vasculitis 65 0.085
104
P OBS005 Obesity 89 0.082
105
P HMN010 Hemangioma 70 0.082
106
SRC014 Sarcoma 68 0.082
107
ART005 Arteriovenous Malformation 62 0.082
108
P CRV039 Cervicitis 57 0.082
109
P SRT002 Sertoli Cell Tumor 40 0.082
110
P CLR023 Colorectal Cancer 77 0.081
111
MYC006 Mycosis Fungoides 68 0.081
112
P OVR046 Ovarian Cyst 47 0.081
113
P LNG032 Lung Cancer 78 0.080
114
P HPT001 Hepatitis C 66 0.079
115
c TRT010 Teratoma 58 0.079
116
NRP001 Neuropathy 61 0.078
117
PRC012 Pericardial Effusion 57 0.078
118
RTN023 Retinitis 53 0.075
119
NNH001 Non-Hodgkin Lymphoma 72 0.074
120
MLT022 Malt Lymphoma 62 0.074
121
c HPT016 Hepatitis B 68 0.073
122
LMY002 Leiomyoma 67 0.073
123
P MYC007 Myocardial Infarction 92 0.072
124
P SYS001 Systemic Lupus Erythematosus 89 0.072
125
P MNN012 Meningioma 78 0.072
126
ART016 Aortic Aneurysm 70 0.072
127
P GTR002 Goiter 61 0.072
128
MYM001 Myoma 55 0.072
129
PRP036 Peripheral T-Cell Lymphoma 48 0.072
130
P PRS040 Prostate Cancer 97 0.070
131
c LPS004 Lupus Erythematosus 75 0.070
132
P ESP024 Esophagitis 63 0.070
133
P OVR042 Ovarian Cancer 84 0.069
134
BRK003 Burkitt's Lymphoma 77 0.069
135
PRR002 Pure Red-Cell Aplasia 55 0.069
136
CHR010 Chorioangioma 43 0.069
137
SYN053 Syndromic Diarrhea 34 0.069
138
P CHR090 Chronic Lymphocytic Leukemia 88 0.068
139
c NTR004 Neutropenia 65 0.068
140
HPT023 Hepatocellular Carcinoma 54 0.068
141
THR013 Thoracic Outlet Syndrome 52 0.066
142
ODN006 Odontoma 31 0.066
143
AND002 Androgen Insensitivity Syndrome 80 0.065
144
c SML001 Small Cell Carcinoma 63 0.065
145
c MNT147 Mental Retardation 56 0.065
146
SPS057 Spasticity 37 0.065
147
P GST019 Gastrointestinal Stromal Tumor 83 0.063
148
ANK002 Ankylosing Spondylitis 76 0.063
149
P ANG001 Angelman Syndrome 71 0.063
150
PTN002 Patent Ductus Arteriosus 57 0.063
151
DDN006 Duodenitis 55 0.063
152
EXT022 Exotropia 39 0.063
153
c HML002 Hemolytic Anemia 65 0.062
154
c DYS154 Dystonia 60 0.061
155
c SPN049 Spinocerebellar Ataxia 56 0.061
156
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 43 0.061
157
PRP005 Parapsoriasis 33 0.061
158
ATH003 Atherosclerosis 68 0.059
159
P BSL007 Basal Cell Carcinoma 66 0.059
160
CLT003 Colitis 64 0.059
161
ART019 Aortic Valve Stenosis 63 0.059
162
ART111 Artery Disease 63 0.059
163
P LPS002 Liposarcoma 60 0.059
164
CHR008 Choroiditis 53 0.059
165
BLN003 Blindness 52 0.059
166
c HPT073 Hepatitis C Virus 47 0.059
167
TBR010 Tuberculosis 85 0.057
168
P MLT020 Multiple Sclerosis 84 0.057
169
c MYL006 Myeloid Leukemia 74 0.057
170
c CTR002 Cataract 57 0.057
171
c TCL004 T-Cell Leukemia 50 0.057
172
PLM052 Pulmonary Arteriovenous Malformation 45 0.057
173
c BNG076 Benign Exophthalmos Syndrome 22 0.057
174
P PRK002 Parkinson's Disease 92 0.056
175
c DBT009 Diabetes Mellitus 73 0.056
176
c MNN013 Meningitis 67 0.056
177
ACN002 Acanthosis Nigricans 64 0.056
178
P MYP004 Myopathy 61 0.056
179
PRP016 Paraplegia 47 0.056
180
P FML011 Familial Adenomatous Polyposis 89 0.054
181
P AST005 Asthma 87 0.054
182
c KDN018 Kidney Disease 62 0.054
183
INT051 Intussusception 60 0.054
184
c MLT074 Multiple Endocrine Neoplasia 60 0.054
185
NRN004 Neuroendocrine Tumor 59 0.054
186
CVR006 Cavernous Hemangioma 58 0.054
187
P ATX010 Ataxia Neuropathy Spectrum 47 0.054
188
P RTN024 Retinoblastoma 83 0.052
189
c AMY001 Amyotrophic Lateral Sclerosis 66 0.052
190
MNT001 Mantle Cell Lymphoma 64 0.052
191
ISC004 Ischemia 62 0.052
192
c PRG013 Paraganglioma 59 0.052
193
URT001 Urethritis 54 0.052
194
c OST028 Osteochondroma 54 0.052
195
CRN006 Coronary Aneurysm 49 0.052
196
NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 46 0.052
197
ACN010 Acanthoma 46 0.052
198
P ATX002 Ataxia Telangiectasia 87 0.051
199
P MDL005 Medulloblastoma 80 0.051
200
MYL040 Myelodysplastic Syndromes 79 0.051
201
P OST012 Osteoarthritis 78 0.051
202
DMN002 Dementia 66 0.051
203
P HST010 Histiocytosis 63 0.051
204
VGN023 Vaginitis 62 0.051
205
c MYL007 Myeloma 60 0.051
206
c HMP002 Hemophagocytic Lymphohistiocytosis 59 0.051
207
P VNT002 Ventricular Septal Defect 53 0.051
208
P ALZ001 Alzheimer's Disease 98 0.049
209
CYS001 Cystic Fibrosis 96 0.049
210
P NRF002 Neurofibromatosis 94 0.049
211
P ACT019 Acute Myeloid Leukemia 92 0.049
212
P RTN008 Retinitis Pigmentosa 86 0.049
213
PTZ001 Peutz-Jeghers Syndrome 77 0.049
214
P CLC005 Celiac Disease 74 0.049
215
P ATM010 Autoimmune Hemolytic Anemia 66 0.049
216
GST027 Gastric Lymphoma 50 0.049
217
P MNN007 Meningocele 40 0.049
218
ABD010 Abdominal Wall Defect 39 0.049
219
P MLT019 Multiple Myeloma 88 0.047
220
P PHC003 Pheochromocytoma 82 0.047
221
P FML018 Familial Mediterranean Fever 75 0.047
222
c THR014 Thrombocytopenia 69 0.047
223
P ABD003 Abdominal Aortic Aneurysm 67 0.047
224
ULC004 Ulcerative Colitis 64 0.047
225
PRT014 Protein S Deficiency 64 0.047
226
P RNL014 Renal Cell Carcinoma 63 0.047
227
HV1006 Hiv-1 63 0.047
228
MRG003 Marginal Zone B-Cell Lymphoma 58 0.047
229
HYP266 Hypoxia 57 0.047
230
c LTR001 Lateral Sclerosis 55 0.047
231
P OMP004 Omphalocele 52 0.047
232
P STR020 Strabismus 51 0.047
233
TRC040 Tracheoesophageal Fistula 48 0.047
234
KRT012 Keratoderma 45 0.047
235
LYM105 Lymphoma, Follicular, Somatic 40 0.047
236
ANG046 Angioimmunoblastic T-Cell Lymphoma 39 0.047
237
BRN055 Bronchogenic Cyst 37 0.047
238
MRF001 Marfan Syndrome 85 0.045
239
P WSK001 Wiskott-Aldrich Syndrome 79 0.045
240
P LYN001 Lynch Syndrome 78 0.045
241
P PNM007 Pneumonia 77 0.045
242
P MYS005 Myositis 71 0.045
243
c AXN002 Axenfeld-Rieger Syndrome 69 0.045
244
MSL001 Measles 67 0.045
245
THR079 Thromboembolism 67 0.045
246
PPL022 Papilloma 65 0.045
247
VNS009 Venous Thrombosis 59 0.045
248
ART001 Arterial Tortuosity Syndrome 55 0.045
249
P CNT005 Central Nervous System Lymphoma 52 0.045
250
CYS009 Cystadenoma 50 0.045
251
HTS001 Hiatus Hernia 45 0.045
252
EST005 Esotropia 42 0.045
253
HMT018 Hematopoietic Stem Cell Transplantation 40 0.045
254
P CRN074 Coronary Artery Aneurysm 40 0.045
255
RCH001 Richter's Syndrome 35 0.045
256
P LVR011 Liver Cancer 90 0.043
257
P RTT002 Rett Syndrome 83 0.043
258
THY028 Thyroid Cancer 74 0.043
259
P SRC013 Sarcoidosis 73 0.043
260
P AMY004 Amyloidosis 73 0.043
261
PRT036 Peritonitis 71 0.043
262
P NRB001 Neuroblastoma 70 0.043
263
P HYD006 Hydrocephalus 69 0.043
264
P HRP006 Herpes Simplex 66 0.043
265
CMM004 Common Variable Immunodeficiency 66 0.043
266
P INS005 Insulin Resistance 64 0.043
267
c LNG028 Long Qt Syndrome 64 0.043
268
c EHL001 Ehlers-Danlos Syndrome 63 0.043
269
c HRD010 Hereditary Spastic Paraplegia 63 0.043
270
P CRB042 Cerebellar Ataxia 62 0.043
271
MYL020 Myelomeningocele 61 0.043
272
PTT006 Pituitary Adenoma 61 0.043
273
CHL067 Cholecystitis 60 0.043
274
c ACT075 Acute Myocardial Infarction 59 0.043
275
P MMP001 Mumps 59 0.043
276
P DBT005 Diabetes Insipidus 57 0.043
277
PRT039 Proteinuria 57 0.043
278
P QFV001 Q Fever 57 0.043
279
P GNT008 Giant Cell Tumor 57 0.043
280
c KBK001 Kabuki Syndrome 56 0.043
281
MCR004 Macroglobulinemia 54 0.043
282
P INF032 Infertility 54 0.043
283
PTT037 Pituitary Tumors 53 0.043
284
AND003 Andersen-Tawil Syndrome 53 0.043
285
P ENC008 Encephalocele 53 0.043
286
PRC013 Pericarditis 52 0.043
287
GRM009 Germ Cell Tumors 49 0.043
288
BRN106 Burns 49 0.043
289
GNG002 Ganglioneuroma 48 0.043
290
CHL039 Choledocholithiasis 47 0.043
291
PNN001 Panniculitis 46 0.043
292
c INF037 Inflammatory Bowel Disease 43 0.043
293
CMP001 Composite Lymphoma 38 0.043
294
GST053 Gastric Cancer 38 0.043
295
P FRG001 Fragile X Syndrome 77 0.041
296
P CHR071 Charcot-Marie-Tooth Disease 73 0.041
297
c PLM037 Pulmonary Hypertension 73 0.041
298
c HYP095 Hypercholesterolemia 72 0.041
299
P FRD001 Friedreich Ataxia 70 0.041
300
CHL065 Cholangiocarcinoma 69 0.041
301
P LVR013 Liver Disease 68 0.041
302
P HYP056 Hypoglycemia 66 0.041
303
FLT001 Felty's Syndrome 64 0.041
304
HYP004 Hypercalcemia 64 0.041
305
PRL009 Prolactinoma 62 0.041
306
c INT070 Intestinal Obstruction 62 0.041
307
PLM014 Pleomorphic Adenoma 62 0.041
308
P ESN007 Eosinophilia 62 0.041
309
HYD012 Hydrops Fetalis 61 0.041
310
P HYP098 Hypereosinophilic Syndrome 61 0.041
311
P PPL020 Papillary Thyroid Carcinoma 59 0.041
312
NRF007 Neurofibroma 57 0.041
313
PLS011 Plasmacytoma 56 0.041
314
TTH006 Tooth Disease 55 0.041
315
MRK001 Merkel Cell Carcinoma 55 0.041
316
CRD001 Cardiac Tamponade 54 0.041
317
c OPH004 Ophthalmoplegia 54 0.041
318
NPH051 Nephritis 53 0.041
319
LYM022 Lymphangioma 53 0.041
320
c LYM025 Lymphedema 52 0.041
321
ANG018 Angiomyolipoma 51 0.041
322
P APL006 Aplasia Cutis Congenita 50 0.041
323
KRT009 Keratosis 49 0.041
324
SFT003 Soft Tissue Sarcoma 49 0.041
325
SCR024 Sacrococcygeal Teratoma 46 0.041
326
MYC033 Myoclonus 44 0.041
327
PRL017 Prolymphocytic Leukemia 43 0.041
328
c TYP009 Type 2 Diabetes Mellitus 100 0.038
329
P TBR001 Tuberous Sclerosis 86 0.038
330
ACR007 Acromegaly 79 0.038
331
P HRD008 Hereditary Hemorrhagic Telangiectasia 76 0.038
332
P PRM006 Primary Biliary Cirrhosis 72 0.038
333
GLL008 Gilles De La Tourette Syndrome 72 0.038
334
P MGR002 Migraine 71 0.038
335
c THL005 Thalassemia 71 0.038
336
ACQ007 Acquired Immunodeficiency Syndrome 70 0.038
337
RNL002 Renal Agenesis 69 0.038
338
P PRD008 Periodontitis 68 0.038
339
CLB001 Coloboma 68 0.038
340
P SHR002 Short Stature 68 0.038
341
P INF038 Influenza 67 0.038
342
P GRF002 Graft Versus Host Disease 64 0.038
343
c HMP007 Hemophilia 64 0.038
344
DFC004 Deficiency Anemia 62 0.038
345
PTN001 Patent Foramen Ovale 61 0.038
346
c MYT002 Myotonic Dystrophy 61 0.038
347
GNG013 Gingivitis 60 0.038
348
LGN001 Legionnaires' Disease 60 0.038
349
BRN002 Bronchiolitis 60 0.038
350
HRY003 Hairy Cell Leukemia 58 0.038
351
SMT015 Smith Magenis Syndrome 58 0.038
352
P SYP003 Syphilis 57 0.038
353
EPD016 Epidermolysis Bullosa 57 0.038
354
P SNS014 Sinusitis 57 0.038
355
SPN051 Spondylitis 57 0.038
356
SNS001 Sensorineural Hearing Loss 57 0.038
357
c HPT015 Hepatitis D 56 0.038
358
P END033 Endocarditis 56 0.038
359
SLT008 Solitary Fibrous Tumor 55 0.038
360
c STS001 Sotos Syndrome 53 0.038
361
GST045 Gastroenteritis 53 0.038
362
PLS025 Plasmablastic Lymphoma 51 0.038
363
EXS001 Exostosis 51 0.038
364
SYN046 Syndrome of Inappropriate Antidiuretic Hormone 50 0.038
365
DYS015 Dysentery 50 0.038
366
c TCL005 T-Cell Prolymphocytic Leukemia 49 0.038
367
FBR054 Fibroma 46 0.038
368
LYM012 Lymphoplasmacytic Lymphoma 46 0.038
369
CRV045 Cervical Intraepithelial Neoplasia 45 0.038
370
P AZS001 Azoospermia 45 0.038
371
ARC002 Arachnoiditis 44 0.038
372
LNG029 Lung Adenocarcinoma 43 0.038
373
P CYS017 Cystic Teratoma 43 0.038
374
PLY013 Polymyalgia Rheumatica 39 0.038
375
GST064 Gastric Outlet Obstruction 39 0.038
376
KLD001 Keloids 36 0.038
377
BLD045 Bladder Diverticulum 28 0.038
378
RTR012 Retroperitoneal Liposarcoma 23 0.038
379
EPG004 Epignathus 22 0.038
380
ATR055 Atrial Septal Aneurysm 22 0.038
381
P OST002 Osteoporosis 76 0.036
382
LVR012 Liver Cirrhosis 76 0.036
383
P BPL003 Bipolar Disorder 76 0.036
384
c CHR065 Chronic Myeloid Leukemia 73 0.036
385
c ESS002 Essential Hypertension 73 0.036
386
P THY023 Thymoma 68 0.036
387
c PRP029 Porphyria 67 0.036
388
c UVT001 Uveitis 65 0.036
389
DRM006 Dermatitis 65 0.036
390
c ENC004 Encephalitis 65 0.036
391
c HYP061 Hypertrophic Cardiomyopathy 64 0.036
392
c HYP069 Hyperparathyroidism 64 0.036
393
ANR002 Aniridia 64 0.036
394
c MCP010 Mucopolysaccharidosis 63 0.036
395
BRR003 Barrett's Esophagus 63 0.036
396
ARC007 Arachnoid Cysts 62 0.036
397
c MLG054 Malignant Histiocytosis 62 0.036
398
ART031 Aortic Coarctation 62 0.036
399
c PLY014 Polycystic Kidney Disease 61 0.036
400
THR004 Thrombocytosis 60 0.036
401
ANG020 Angiosarcoma 59 0.036
402
P HYP080 Hypogonadism 59 0.036
403
c OPN001 Open-Angle Glaucoma 59 0.036
404
CHN010 Chondroma 58 0.036
405
P CHL066 Cholangitis 54 0.036
406
MCN001 Mucinous Adenocarcinoma 54 0.036
407
P GRN010 Granular Cell Tumor 54 0.036
408
PRM042 Primary Effusion Lymphoma 53 0.036
409
P HYP083 Hypopituitarism 52 0.036
410
c CPL003 Capillary Leak Syndrome 52 0.036
411
PRT029 Parathyroid Adenoma 52 0.036
412
MCL003 Macular Holes 51 0.036
413
HYD005 Hydrocele 50 0.036
414
c SYN001 Syndactyly 50 0.036
415
INF058 Inflammatory Myofibroblastic Tumor 49 0.036
416
PNM008 Pneumothorax 49 0.036
417
SMN007 Seminoma 49 0.036
418
MTH009 Mouth Disease 48 0.036
419
NSP002 Nasopharyngitis 48 0.036
420
LCT001 Lactic Acidosis 47 0.036
421
DBT061 Diabetic Nephropathy 47 0.036
422
ACT055 Actinomycosis 46 0.036
423
SPL018 Splenomegaly 46 0.036
424
CMP034 Complete Androgen Insensitivity Syndrome 45 0.036
425
MGL013 Megalencephaly 45 0.036
426
ILS001 Ileus 44 0.036
427
CYT008 Cytomegalovirus Infection 43 0.036
428
MCL007 Macular Dystrophy 39 0.036
429
OCL022 Ocular Melanoma 37 0.036
430
P DYS005 Dyslexia 34 0.036
431
HPT063 Hepatitis B Virus Infection 33 0.036
432
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 29 0.036
433
TFT003 Tufting Enteropathy 28 0.036
434
BRS001 Breast Lymphoma 27 0.036
435
P HNT001 Huntington's Disease 87 0.033
436
P FML021 Familial Hypercholesterolemia 85 0.033
437
PLY001 Polycythemia Vera 85 0.033
438
P AGR001 Age Related Macular Degeneration 84 0.033
439
VNH001 Von Hippel-Lindau Disease 81 0.033
440
P MLR004 Malaria 74 0.033
441
SPS077 Sepsis 69 0.033
442
DSM004 Desmoid Tumor 68 0.033
443
CRB039 Cerebrovascular Disease 68 0.033
444
P BCK002 Beckwith-Wiedemann Syndrome 68 0.033
445
NNS005 Non-Small Cell Lung Carcinoma 67 0.033
446
P PLY011 Polycystic Ovary Syndrome 67 0.033
447
MLG056 Malignant Hyperthermia 65 0.033
448
P GT001 Gout 65 0.033
449
P PRT013 Portal Hypertension 65 0.033
450
IRR002 Irritable Bowel Syndrome 64 0.033
451
P ALP004 Alport Syndrome 63 0.033
452
c HYP076 Hyperthyroidism 62 0.033
453
GST033 Gestational Diabetes 62 0.033
454
PRT037 Pertussis 61 0.033
455
P SCH018 Schizencephaly 61 0.033
456
P LMY004 Leiomyosarcoma 61 0.033
457
P EPN002 Ependymoma 61 0.033
458
TTR011 Tetraploidy 61 0.033
459
P IDP010 Idiopathic Generalized Epilepsy 61 0.033
460
c LMB006 Limb-Girdle Muscular Dystrophy 61 0.033
461
PMP001 Pemphigus 59 0.033
462
c PLY018 Polycythemia 59 0.033
463
PPL002 Papillary Carcinoma 58 0.033
464
ECH003 Echinococcosis 58 0.033
465
LYM019 Lymphosarcoma 58 0.033
466
c BRG001 Brugada Syndrome 58 0.033
467
EXT010 Extramedullary Plasmacytoma 58 0.033
468
c USH001 Usher Syndrome 57 0.033
469
c THR003 Thoracic Aortic Aneurysm 56 0.033
470
P INT030 Intracranial Aneurysm 56 0.033
471
PRT011 Protein C Deficiency 55 0.033
472
P OTS001 Otosclerosis 55 0.033
473
PRT019 Protein-Losing Enteropathy 55 0.033
474
ADR008 Adrenal Adenoma 54 0.033
475
P EHL009 Ehlers-Danlos Syndrome Type Iv 53 0.033
476
c ADN012 Adenocarcinoma in Situ 53 0.033
477
LPS007 Lupus Nephritis 52 0.033
478
RSD004 Rosai-Dorfman Disease 52 0.033
479
c SPN183 Spontaneous Pneumothorax 52 0.033
480
c DRR001 Diarrhea 51 0.033
481
P CTN015 Cutaneous T Cell Lymphoma 51 0.033
482
LYM027 Lymphopenia 50 0.033
483
FBR009 Fibrous Dysplasia 50 0.033
484
c EPS003 Episodic Ataxia 50 0.033
485
RTR011 Retroperitoneal Fibrosis 50 0.033
486
c CNT035 Central Nervous System Disease 48 0.033
487
P ART084 Arteriovenous Fistula 46 0.033
488
SPL004 Splenic Marginal Zone Lymphoma 46 0.033
489
HYP064 Hypogonadotropism 46 0.033
490
c ADL017 Adult T-Cell Leukemia 45 0.033
491
TNG009 Tongue Squamous Cell Carcinoma 45 0.033
492
PNH001 Panhypopituitarism 45 0.033
493
DCT002 Ductal Carcinoma in Situ 41 0.033
494
CDQ001 Cauda Equina Syndrome 41 0.033
495
c HMN021 Human T-Cell Leukemia Virus Type 1 41 0.033
496
INT079 Intrahepatic Cholangiocarcinoma 39 0.033
497
ADS002 Adie Syndrome 35 0.033
498
c CRB059 Cerebellar Degeneration 34 0.033
499
P PLM064 Pulmonary Sequestration 29 0.033
500
HNM002 Hinman Syndrome 28 0.033
501
HPT070 Hepatosplenic T-Cell Lymphoma 26 0.033
502
BLD041 Bladder Calculus 21 0.033
503
P LFR001 Li-Fraumeni Syndrome 88 0.030
504
P DLT002 Dilated Cardiomyopathy 87 0.030
505
FBR012 Fabry Disease 85 0.030
506
INF030 Infectious Mononucleosis 84 0.030
507
CDS001 Cadasil 84 0.030
508
P OST018 Osteosarcoma 81 0.030
509
P LPR003 Leprosy 77 0.030
510
CNG034 Congestive Heart Failure 77 0.030
511
P RBN001 Rubinstein-Taybi Syndrome 77 0.030
512
P END042 Endometrial Carcinoma 75 0.030
513
P MYL005 Myelofibrosis 74 0.030
514
LSH001 Leishmaniasis 73 0.030
515
c PRM002 Primary Hyperoxaluria 73 0.030
516
c OST005 Osteogenesis Imperfecta 72 0.030
517
P HYP458 Hyper Ige Syndrome 72 0.030
518
P PND002 Pendred Syndrome 71 0.030
519
BLL006 Bullous Pemphigoid 69 0.030
520
P CCK003 Cockayne Syndrome Type Ii 69 0.030
521
TKY001 Takayasu's Arteritis 68 0.030
522
P GLM007 Glomerulonephritis 68 0.030
523
P PLM036 Pulmonary Fibrosis 68 0.030
524
c HYP086 Hypothyroidism 68 0.030
525
FLL032 Follicular Thyroid Carcinoma 67 0.030
526
P CRN008 Carney Complex 67 0.030
527
P BLD042 Bladder Carcinoma 67 0.030
528
c NPH012 Nephrotic Syndrome 67 0.030
529
GST023 Gastric Ulcer 66 0.030
530
P PRM019 Premature Ovarian Failure 66 0.030
531
P THR015 Thrombophilia 66 0.030
532
CST001 Costello Syndrome 66 0.030
533
P ATM006 Autoimmune Lymphoproliferative Syndrome 66 0.030
534
PLM033 Pulmonary Embolism 65 0.030
535
P CLN016 Colon Cancer 64 0.030
536
P LRY019 Laryngitis 64 0.030
537
P ACT101 Acute Lymphoblastic Leukemia 64 0.030
538
c NRN021 Neuronal Ceroid Lipofuscinosis 63 0.030
539
c FML010 Familial Medullary Thyroid Carcinoma 63 0.030
540
CRY003 Cryptosporidiosis 63 0.030
541
URT039 Urticaria 63 0.030
542
ADL030 Adult-Onset Still's Disease 62 0.030
543
CRN036 Craniopharyngioma 62 0.030
544
HMT002 Hematologic Cancer 62 0.030
545
c HYP051 Hypokalemic Periodic Paralysis 61 0.030
546
c ESS003 Essential Thrombocythemia 61 0.030
547
P FTL006 Fetal Alcohol Spectrum Disorder 60 0.030
548
P RTN025 Retinoschisis 60 0.030
549
c ANG015 Angioedema 60 0.030
550
BTL001 Botulism 60 0.030
551
P PRC019 Precocious Puberty 59 0.030
552
SPN020 Spondylosis 59 0.030
553
ALC007 Alcohol Dependence 59 0.030
554
c GLY013 Glycogen Storage Disease 59 0.030
555
GNR005 Gonorrhea 59 0.030
556
VSC002 Vascular Dementia 58 0.030
557
P GLB002 Glioblastoma 58 0.030
558
RHB003 Rhabdomyosarcoma 58 0.030
559
CLL003 Cellulitis 58 0.030
560
NRL005 Neurilemmoma 57 0.030
561
PLM034 Pulmonary Emphysema 57 0.030
562
c LYM026 Lymphoblastic Leukemia 56 0.030
563
P RTN012 Retinopathy of Prematurity 56 0.030
564
RTN017 Retinal Detachment 56 0.030
565
P PLY006 Polydactyly 56 0.030
566
c MCR010 Microcephaly 56 0.030
567
P SYR001 Syringomyelia 55 0.030
568
OSS001 Ossifying Fibroma 55 0.030
569
VND002 Van Der Woude Syndrome 55 0.030
570
ECT006 Ectodermal Dysplasia 55 0.030
571
c TRM003 Tremor 55 0.030
572
c CHR285 Chronic Myelomonocytic Leukemia 55 0.030
573
VNS010 Venous Thromboembolism 54 0.030
574
HMM003 Hemimegalencephaly 54 0.030
575
MYC011 Myoclonus-Dystonia 54 0.030
576
PTT004 Pituitary Apoplexy 53 0.030
577
P MSC003 Muscular Atrophy 53 0.030
578
c DFF019 Diffuse Gastric Cancer 53 0.030
579
P PRK001 Porokeratosis 52 0.030
580
INT066 Interstitial Lung Disease 52 0.030
581
HYP037 Hyperhomocysteinemia 52 0.030
582
ACS001 Acoustic Neuroma 51 0.030
583
P CLF002 Cleft Palate 51 0.030
584
TBR022 Tuberous Sclerosis Complex 51 0.030
585
IMP002 Imperforate Anus 51 0.030
586
NDL007 Nodular Goiter 51 0.030
587
P NPH005 Nephronophthisis 51 0.030
588
HST016 Histiocytic Sarcoma 51 0.030
589
OBS001 Obstructive Jaundice 50 0.030
590
P CYS016 Cystic Kidney 50 0.030
591
CHL052 Choledochal Cyst 50 0.030
592
c ATM024 Autoimmune Pancreatitis 50 0.030
593
P HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 50 0.030
594
PLX002 Plexiform Neurofibroma 49 0.030
595
THY022 Thymic Carcinoma 49 0.030
596
c PRM046 Primary Malignant Lymphoma 48 0.030
597
DVR002 Diverticulitis 48 0.030
598
ALB002 Albinism 48 0.030
599
P PNC001 Pancytopenia 48 0.030
600
P HML001 Hemolytic-Uremic Syndrome 47 0.030
601
RFR003 Refractive Error 47 0.030
602
c GGN002 Gigantism 47 0.030
603
BRS051 Breast Disease 47 0.030
604
DYS018 Dysostosis 45 0.030
605
GYN001 Gynecomastia 45 0.030
606
VLL006 Villous Adenoma 44 0.030
607
HRS011 Horseshoe Kidney 44 0.030
608
SPR005 Superficial Basal Cell Carcinoma 44 0.030
609
CHR276 Chronic Active Epstein-Barr Virus Infection 43 0.030
610
c CHR417 Chronic Graft Versus Host Disease 42 0.030
611
PHL006 Phelan-Mcdermid Syndrome 42 0.030
612
UTR039 Uterine Fibroid 42 0.030
613
c MYP006 Myopia 41 0.030
614
c FML108 Familial Breast Cancer 41 0.030
615
SPS019 Spastic Paraparesis 40 0.030
616
MDD003 Middle Cerebral Artery Infarction 39 0.030
617
SPR035 Superior Vena Cava Syndrome 39 0.030
618
VRL011 Viral Infectious Disease 38 0.030
619
P SYS007 Systemic Capillary Leak Syndrome 38 0.030
620
PHC004 Phace Syndrome 36 0.030
621
ZMM001 Zimmermann-Laband Syndrome 34 0.030
622
SPL007 Splenic Abscess 30 0.030
623
ACR037 Acromegaloid Facial Appearance Syndrome 28 0.030
624
MYC014 Mycobacterium Chelonae 27 0.030
625
DDN009 Duodenal Obstruction 26 0.030
626
NRN006 Neuroendocrine Carcinoma of the Cervix 26 0.030
627
c ACT036 Acute Cholangitis 25 0.030
628
HYP047 Hypertropia 20 0.030
629
CHR170 Choroid Plexus Cyst 16 0.030
630
P PNC035 Pancreatic Cancer 92 0.027
631
GLC006 Galactosemia 85 0.027
632
PHN003 Phenylketonuria 83 0.027
633
P HRS001 Hirschsprung's Disease 81 0.027
634
P PRM021 Primary Pulmonary Hypertension 80 0.027
635
P CSH001 Cushing's Syndrome 80 0.027
636
ESP021 Esophageal Cancer 80 0.027
637
P HMP004 Hemophilia B 80 0.027
638
P PRC016 Pre-Eclampsia 79 0.027
639
c NNN003 Noonan Syndrome 79 0.027
640
PGT001 Paget's Disease of Bone 76 0.027
641
21H001 21-Hydroxylase Deficiency 76 0.027
642
SKN016 Skin Disease 74 0.027
643
CHR012 Chronic Granulomatous Disease 74 0.027
644
P MLT007 Multiple Epiphyseal Dysplasia 74 0.027
645
P HYP035 Hypophosphatasia 73 0.027
646
HST011 Histoplasmosis 73 0.027
647
CFF002 Coffin-Lowry Syndrome 73 0.027
648
P NPH007 Nephrogenic Diabetes Insipidus 72 0.027
649
P MLT042 Multiple Endocrine Neoplasia Type 2a 72 0.027
650
SCH014 Schistosomiasis 72 0.027
651
P TMP003 Temporal Arteritis 72 0.027
652
WRN001 Werner Syndrome 71 0.027
653
OBS002 Obsessive-Compulsive Disorder 71 0.027
654
CHR029 Choroid Plexus Papilloma 71 0.027
655
P MCH002 Machado-Joseph Disease 70 0.027
656
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.027
657
c MTR004 Maturity-Onset Diabetes of the Young 69 0.027
658
P MLG075 Malignant Mesothelioma 68 0.027
659
P PSD087 Pseudoxanthoma Elasticum 68 0.027
660
DRM014 Dermatofibrosarcoma Protuberans 68 0.027
661
P RCK004 Rickets 67 0.027
662
P LBR001 Leber Congenital Amaurosis 67 0.027
663
MLB002 Male Breast Cancer 67 0.027
664
VRG001 Variegate Porphyria 67 0.027
665
P ATP001 Atopic Dermatitis 66 0.027
666
P ATM003 Autoimmune Thyroiditis 66 0.027
667
P FNC001 Fanconi's Anemia 65 0.027
668
MGL001 Megaloblastic Anemia 65 0.027
669
c SPN069 Spinocerebellar Ataxia Type 7 65 0.027
670
PRP030 Purpura 65 0.027
671
CHR066 Chronic Fatigue Syndrome 65 0.027
672
c SPN046 Spinal Muscular Atrophy 65 0.027
673
PHR003 Pharyngitis 65 0.027
674
P VTL001 Vitelliform Macular Dystrophy 65 0.027
675
SHG001 Shigellosis 64 0.027
676
P GRV001 Graves' Disease 64 0.027
677
TTN003 Tetanus 64 0.027
678
BBS001 Babesiosis 64 0.027
679
KRN002 Kearns-Sayre Syndrome 63 0.027
680
P CHN012 Chondrosarcoma 63 0.027
681
WLL003 Williams Syndrome 63 0.027
682
PSR002 Psoriasis 62 0.027
683
c DST002 Distal Arthrogryposis 62 0.027
684
c CND004 Candidiasis 61 0.027
685
ADR015 Adrenocortical Carcinoma 61 0.027
686
P MYT006 Myotonic Dystrophy Type 1 61 0.027
687
DSS009 Disseminated Intravascular Coagulation 61 0.027
688
ASP003 Aseptic Meningitis 60 0.027
689
PLM001 Pulmonary Tuberculosis 60 0.027
690
c ATM011 Autoimmune Hepatitis 60 0.027
691
CHC001 Chickenpox 59 0.027
692
c MPL001 Maple Syrup Urine Disease 59 0.027
693
ALP008 Alopecia 59 0.027
694
P SYN007 Synovitis 59 0.027
695
CLD007 Cold Agglutinin Disease 59 0.027
696
BRN012 Bronchiolitis Obliterans 59 0.027
697
CNR002 Cone-Rod Dystrophy 59 0.027
698
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 58 0.027
699
CHL068 Cholestasis 58 0.027
700
ISC006 Ischemic Heart Disease 58 0.027
701
MYC002 Mycobacterium Avium Complex Disease 58 0.027
702
CNN005 Connective Tissue Disease 58 0.027
703
HDC001 Headache 57 0.027
704
P WVR001 Weaver Syndrome 57 0.027
705
CPL006 Capillary Hemangioma 57 0.027
706
DPH001 Diphtheria 57 0.027
707
P SPN016 Spondylocostal Dysostosis 57 0.027
708
P INT068 Intestinal Disease 57 0.027
709
ADN009 Adenosquamous Carcinoma 56 0.027
710
P HRD027 Hereditary Diffuse Gastric Cancer 56 0.027
711
KRT006 Keratoconjunctivitis 56 0.027
712
RNL007 Renal Tubular Acidosis 56 0.027
713
CYS002 Cystic Lymphangioma 56 0.027
714
LYM006 Lymphoepithelioma-Like Carcinoma 55 0.027
715
P HYP014 Hyperuricemia 55 0.027
716
LMB002 Lambert-Eaton Myasthenic Syndrome 54 0.027
717
PRM003 Premature Ejaculation 54 0.027
718
c PRM010 Primary Open Angle Glaucoma 54 0.027
719
P HMN013 Hemangiopericytoma 54 0.027
720
HMN009 Hemangioblastoma 54 0.027
721
PRT018 Portal Vein Thrombosis 54 0.027
722
ANG011 Angiodysplasia 54 0.027
723
c ACR001 Aicardi-Goutieres Syndrome 54 0.027
724
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 54 0.027
725
PLM031 Poliomyelitis 53 0.027
726
P CNG001 Congenital Myasthenic Syndrome 52 0.027
727
MMB002 Membranous Glomerulonephritis 52 0.027
728
GRN007 Granuloma Annulare 52 0.027
729
PRG009 Progressive Multifocal Leukoencephalopathy 52 0.027
730
c HYD002 Hydronephrosis 52 0.027
731
DYS073 Dysphagia 51 0.027
732
CHN016 Cohen Syndrome 51 0.027
733
c KRT005 Keratoacanthoma 50 0.027
734
PRN049 Paraneoplastic Pemphigus 50 0.027
735
c ERY013 Erythrocytosis 50 0.027
736
P MJR001 Major Depressive Disorder 50 0.027
737
c SVR056 Severe Hemophilia a 49 0.027
738
PYG006 Pyogenic Granuloma 49 0.027
739
TLN003 Telangiectasis 49 0.027
740
LYM051 Lymphomatoid Granulomatosis 48 0.027
741
CNS002 Constrictive Pericarditis 47 0.027
742
SJG001 Sjogren's Syndrome 47 0.027
743
P VNS003 Venous Insufficiency 47 0.027
744
FBR019 Fibromatosis 46 0.027
745
c AML002 Amelogenesis Imperfecta 46 0.027
746
LNG017 Lung Giant Cell Carcinoma 46 0.027
747
BRN105 Burn Scar 46 0.027
748
NRM004 Neuroma 45 0.027
749
SMT002 Smooth Muscle Tumor 45 0.027
750
CRN025 Corneal Dystrophy 45 0.027
751
VRC005 Varicose Veins 45 0.027
752
c CNG024 Congenital Nystagmus 45 0.027
753
INF034 Infective Endocarditis 44 0.027
754
ODN005 Odontogenic Myxoma 44 0.027
755
CRT015 Carotid Artery Occlusion 44 0.027
756
ESN011 Eisenmenger Syndrome 44 0.027
757
FTT001 Fatty Liver Disease 44 0.027
758
BRS090 Breast Reconstruction 44 0.027
759
OST006 Osteoblastoma 43 0.027
760
MYT011 Myotonia 43 0.027
761
TRN012 Transient Global Amnesia 43 0.027
762
CRB004 Cerebral Artery Occlusion 43 0.027
763
CND006 Candida Glabrata 43 0.027
764
OBS004 Obstructive Hydrocephalus 42 0.027
765
WST005 West Nile Virus 42 0.027
766
INT071 Intestinal Perforation 42 0.027
767
c HYP087 Hypotrichosis 42 0.027
768
NNS011 Nonseminomatous Germ Cell Tumor 41 0.027
769
EPG003 Epiglottitis 41 0.027
770
HRD025 Hereditary Neuropathy with Liability to Pressure Palsies 40 0.027
771
INP001 Inappropriate Adh Syndrome 40 0.027
772
OPS002 Opsismodysplasia 39 0.027
773
URT020 Ureterocele 38 0.027
774
P CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 38 0.027
775
c BPL002 Bipolar I Disorder 38 0.027
776
SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 38 0.027
777
PRS045 Prostatic Hypertrophy 37 0.027
778
TST004 Testicular Lymphoma 36 0.027
779
IPX001 Ipex Syndrome 36 0.027
780
OLV002 Oliver Syndrome 36 0.027
781
MLK004 Malakoplakia 35 0.027
782
CLR109 Colorectal Adenocarcinoma 34 0.027
783
P LNG038 Lung Small Cell Carcinoma 34 0.027
784
c MCR043 Microcephalic Osteodysplastic Primordial Dwarfism Type 1 34 0.027
785
PLM074 Pulmonary Function 34 0.027
786
HRD088 Hereditary Neuropathies 32 0.027
787
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 31 0.027
788
GST039 Gastroduodenitis 30 0.027
789
DNC004 Diencephalic Syndrome 29 0.027
790
c LYM034 Lymphoproliferative Disease, X-Linked 29 0.027
791
SPL005 Splenic Artery Aneurysm 29 0.027
792
EPD046 Epididymitis 28 0.027
793
PRN032 Paraneoplastic Cerebellar Degeneration 26 0.027
794
NRC006 Neurocutaneous Melanosis 26 0.027
795
HYP179 Hypertrichosis Congenital Generalized X-Linked 26 0.027
796
URT016 Urethral Diverticulum 25 0.027
797
CYS015 Cystadenofibroma 24 0.027
798
PSD084 Pseudo-Meigs Syndrome 23 0.027
799
AND005 Androgen Insensitivity Syndrome, Mild 21 0.027
800
INT240 Intellectual Disability, Wolff Type 20 0.027
801
SNL003 Senile Angioma 19 0.027
802
c LKM005 Leukemia, T-Cell, Chronic 17 0.027
803
c DST038 Distal Monosomy 7q36 16 0.027
804
P HMC003 Hemochromatosis 85 0.023
805
P APL001 Aplastic Anemia 84 0.023
806
CLD001 Cleidocranial Dysplasia 79 0.023
807
GLN003 Glanzmann's Thrombasthenia 76 0.023
808
P JVN014 Juvenile Polyposis Syndrome 75 0.023
809
P MST009 Mastocytosis 75 0.023
810
TTR001 Tetralogy of Fallot 74 0.023
811
NRR002 Norrie Disease 74 0.023
812
P LYM007 Lymphangioleiomyomatosis 74 0.023
813
P PRD006 Prader-Willi Syndrome 73 0.023
814
PRG004 Progeria 73 0.023
815
P FRN006 Frontotemporal Dementia 72 0.023
816
P AST007 Astrocytoma 72 0.023
817
P CNG368 Congenital Adrenal Hyperplasia 72 0.023
818
ASP006 Aspergillosis 72 0.023
819
P DRM010 Dermatomyositis 71 0.023
820
P PRM005 Primary Hyperparathyroidism 70 0.023
821
c JBR001 Joubert Syndrome 69 0.023
822
c CRN037 Craniosynostosis 69 0.023
823
VSC007 Vascular Disease 69 0.023
824
P ESS001 Essential Tremor 69 0.023
825
KLP002 Klippel-Trenaunay Syndrome 69 0.023
826
P RSP003 Respiratory Failure 68 0.023
827
ALV002 Alveolar Echinococcosis 68 0.023
828
PSD007 Pseudomyxoma Peritonei 68 0.023
829
PTR006 Peters Plus Syndrome 68 0.023
830
c HLP001 Holoprosencephaly 68 0.023
831
MRB003 Morbid Obesity 67 0.023
832
DBT001 Diabetic Ketoacidosis 67 0.023
833
P TRN020 Turner Syndrome 67 0.023
834
SPN038 Spina Bifida 66 0.023
835
GLL018 Gallbladder Cancer 66 0.023
836
ABT001 Abetalipoproteinemia 66 0.023
837
P OST009 Osteochondritis Dissecans 66 0.023
838
P FML020 Familial Combined Hyperlipidemia 66 0.023
839
CHR072 Chordoma 65 0.023
840
STR008 Strongyloidiasis 65 0.023
841
P GST044 Gastritis 65 0.023
842
ARS001 Aarskog-Scott Syndrome 65 0.023
843
P DRM007 Dermatitis Herpetiformis 65 0.023
844
c TXP001 Toxoplasmosis 65 0.023
845
P PCH001 Pachyonychia Congenita 64 0.023
846
DNH001 Donohue Syndrome 64 0.023
847
PMS001 Poems Syndrome 64 0.023
848
P ALP009 Alopecia Areata 64 0.023
849
MXD005 Mixed Connective Tissue Disease 64 0.023
850
LBR002 Leber Hereditary Optic Neuropathy 64 0.023
851
c VRL010 Viral Hepatitis 63 0.023
852
TRN018 Transitional Cell Carcinoma 63 0.023
853
c AMY077 Amyotrophic Lateral Sclerosis Type 18 63 0.023
854
HRD014 Hereditary Coproporphyria 63 0.023
855
P ART023 Arthropathy 63 0.023
856
P KRT004 Keratitis 63 0.023
857
LYM009 Lymphocytic Choriomeningitis 62 0.023
858
SPN027 Spinal Stenosis 62 0.023
859
SPN186 Spinal Cord Injury 61 0.023
860
c THN001 Thanatophoric Dysplasia 61 0.023
861
MTR014 Motor Neuron Disease 61 0.023
862
P CNJ013 Conjunctivitis 61 0.023
863
c AGM001 Agammaglobulinemia 61 0.023
864
XLN001 X-Linked Ichthyosis 61 0.023
865
EDW001 Edwards Syndrome 60 0.023
866
c BRC006 Brachydactyly 60 0.023
867
PGM001 Pigmented Villonodular Synovitis 60 0.023
868
BRC012 Brucellosis 60 0.023
869
c ALM001 Al Amyloidosis 60 0.023
870
P AMY074 Amyotrophic Lateral Sclerosis Type 14 59 0.023
871
P LRS001 Larsen Syndrome 59 0.023
872
NRC020 Neuroectodermal Tumor 59 0.023
873
SMT003 Somatostatinoma 59 0.023
874
AMB001 Amebiasis 59 0.023
875
c HPT003 Hepatitis a 58 0.023
876
P ATS007 Autism Spectrum Disorder 58 0.023
877
ISL001 Islet Cell Tumor 58 0.023
878
CRY004 Cryoglobulinemia 58 0.023
879
P CNG095 Congenital Generalized Lipodystrophy Type 2 58 0.023
880
CRT002 Cartilage-Hair Hypoplasia 57 0.023
881
P CNG021 Congenital Toxoplasmosis 57 0.023
882
P EXD001 Exudative Vitreoretinopathy 57 0.023
883
ACN011 Acne 57 0.023
884
P ATR001 Atrioventricular Septal Defect 57 0.023
885
c HRD002 Hereditary Angioedema 57 0.023
886
c HYP065 Hyperaldosteronism 57 0.023
887
PST021 Postpartum Depression 57 0.023
888
P PSR001 Psoriatic Arthritis 57 0.023
889
NPH018 Nephrogenic Systemic Fibrosis 57 0.023
890
EPD001 Epidermodysplasia Verruciformis 57 0.023
891
P HYP024 Hypoparathyroidism 57 0.023
892
TNS005 Tonsillitis 56 0.023
893
c SPN068 Spinocerebellar Ataxia Type 6 56 0.023
894
PLS007 Plasmodium Falciparum Malaria 56 0.023
895
c CHR095 Chronic Progressive External Ophthalmoplegia 56 0.023
896
ATT002 Attention Deficit Hyperactivity Disorder 56 0.023
897
MCR191 Microscopic Colitis 56 0.023
898
P KLL001 Kallmann Syndrome 56 0.023
899
HPT019 Hepatic Encephalopathy 56 0.023
900
BLS002 Blastomycosis 56 0.023
901
MYL003 Myeloid Sarcoma 55 0.023
902
LPM005 Lipomatosis 55 0.023
903
DND002 Dendritic Cell Sarcoma 55 0.023
904
c INF023 Inflammatory Breast Carcinoma 55 0.023
905
STV001 Stevens-Johnson Syndrome 55 0.023
906
RFT001 Rift Valley Fever 55 0.023
907
ACN001 Acinar Cell Carcinoma 55 0.023
908
LGN002 Legionellosis 55 0.023
909
SPR004 Supravalvular Aortic Stenosis 54 0.023
910
FBR003 Fibrous Histiocytoma 54 0.023
911
DSM007 Desmoplastic Small Round Cell Tumor 54 0.023
912
P CHR409 Chronic Obstructive Pulmonary Disease 54 0.023
913
HST009 Histiocytoma 54 0.023
914
CYS014 Cystadenocarcinoma 54 0.023
915
WLL001 Williams-Beuren Syndrome 54 0.023
916
MLN007 Male Infertility 53 0.023
917
LYM040 Lymphoblastic Lymphoma 53 0.023
918
THY009 Thyroid Lymphoma 53 0.023
919
DYS014 Dyspepsia 53 0.023
920
c ALP002 Alpha-Mannosidosis 53 0.023
921
LPT001 Leptospirosis 53 0.023
922
ACH005 Achalasia 53 0.023
923
c ACT134 Acute Liver Failure 53 0.023
924
VLL003 Villonodular Synovitis 53 0.023
925
CHK001 Chikungunya 53 0.023
926
c CRN015 Cornelia De Lange Syndrome 52 0.023
927
TCK001 Tick-Borne Encephalitis 52 0.023
928
CLC006 Calcinosis 52 0.023
929
c LKD001 Leukodystrophy 52 0.023
930
GRW007 Growth Hormone Deficiency 52 0.023
931
HMG002 Hemoglobinuria 51 0.023
932
OCL001 Ocular Albinism 51 0.023
933
HVD003 Hiv/aids 51 0.023
934
JVN033 Juvenile Nasopharyngeal Angiofibroma 51 0.023
935
P DST010 Distal Arthrogryposis Type 5 51 0.023
936
ANR009 Aneurysmal Bone Cysts 51 0.023
937
MNN014 Mononeuritis 51 0.023
938
PLV003 Pelvic Inflammatory Disease 50 0.023
939
c HMP006 Hemiplegic Migraine 50 0.023
940
MCN008 Mucinous Cystadenocarcinoma 50 0.023
941
NRM005 Neuromuscular Disease 50 0.023
942
P CST002 Castleman's Disease 50 0.023
943
P LYD001 Leydig Cell Tumor 50 0.023
944
c STC001 Stickler Syndrome 50 0.023
945
PGT004 Paget Disease, Juvenile 50 0.023
946
P WLD002 Waldenstrom Macroglobulinemia 50 0.023
947
SYN006 Synovial Sarcoma 50 0.023
948
TNC002 Tinea Capitis 49 0.023
949
GLD002 Goldberg-Shprintzen Megacolon Syndrome 49 0.023
950
SPN032 Spindle Cell Carcinoma 49 0.023
951
P ORL007 Oral Cavity Cancer 49 0.023
952
XLN017 X-Linked Spondyloepiphyseal Dysplasia Tarda 48 0.023
953
MST005 Mastitis 48 0.023
954
PLM026 Pilomatrixoma 48 0.023
955
CRD137 Cardiogenic Shock 48 0.023
956
c NGH001 Night Blindness 48 0.023
957
HYP231 Hypothalamic Hamartomas 48 0.023
958
NRF003 Neurofibrosarcoma 48 0.023
959
CHL004 Cholelithiasis 47 0.023
960
P MGR003 Migraine with Aura 47 0.023
961
GLM011 Glomerulosclerosis 47 0.023
962
LYM021 Lymphadenitis 47 0.023
963
DND018 Dendritic Cell Tumor 47 0.023
964
P MLT008 Multinodular Goiter 47 0.023
965
MNN009 Meningoencephalitis 46 0.023
966
P HMR005 Hemorrhoid 46 0.023
967
c HYP052 Hyperkalemic Periodic Paralysis 45 0.023
968
BNF002 Bone Fracture 45 0.023
969
P FCS001 Facioscapulohumeral Muscular Dystrophy 44 0.023
970
FML055 Familial Cylindromatosis 44 0.023
971
MYX013 Myxofibrosarcoma 44 0.023
972
MXD032 Mixed Germ Cell Tumor 44 0.023
973
PRS039 Prostate Adenocarcinoma 44 0.023
974
HYP459 Hyperferritinemia Cataract Syndrome 43 0.023
975
HPT022 Hepatoblastoma 43 0.023
976
CRN030 Coronary Stenosis 43 0.023
977
DXT001 Dextrocardia 43 0.023
978
P PLM041 Pulmonary Valve Stenosis 43 0.023
979
WRD002 Werdnig-Hoffmann Disease 43 0.023
980
THY043 Thymic Hyperplasia 42 0.023
981
OLG001 Oligospermia 42 0.023
982
LMB052 Lumbar Disc Herniation 42 0.023
983
PHC013 Phaeochromocytoma 42 0.023
984
MCK002 Meckel's Diverticulum 42 0.023
985
AST006 Astigmatism 42 0.023
986
SML019 Smallpox 42 0.023
987
PLM016 Pleomorphic Carcinoma 42 0.023
988
P EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 41 0.023
989
RCT011 Rectal Prolapse 41 0.023
990
c INT069 Intestinal Neoplasm 41 0.023
991
HMP009 Haemophilus Influenzae 41 0.023
992
CND005 Cone Dystrophy 41 0.023
993
GST040 Gastric Adenocarcinoma 40 0.023
994
CHR174 Christianson Syndrome 40 0.023
995
P RNL017 Renal Oncocytoma 39 0.023
996
ART012 Aortitis 39 0.023
997
c HVY001 Heavy Chain Disease 39 0.023
998
CRB086 Cerebral Aneurysms 38 0.023
999
SPL006 Splenic Infarction 38 0.023
1000
THY035 Thyroid Adenoma 38 0.023
1001
P CHR038 Chronic Maxillary Sinusitis 38 0.023
1002
MNN002 Mononeuritis Multiplex 38 0.023
1003
MDL019 Medullary Cystic Kidney Disease Type 1 38 0.023
1004
c SPN071 Spinocerebellar Ataxia Type 10 38 0.023
1005
LMB010 Lambert Syndrome 38 0.023
1006
ADN002 Adenoiditis 37 0.023
1007
SYS003 Systolic Heart Failure 37 0.023
1008
P GLM006 Glomangioma 37 0.023
1009
P GMM003 Gamma Heavy Chain Disease 37 0.023
1010
FTD001 Foot Drop 36 0.023
1011
P RNP001 Renpenning Syndrome 36 0.023
1012
MYB001 Myoblastoma 36 0.023
1013
LNG039 Lung Squamous Cell Carcinoma 36 0.023
1014
IMM088 Immunodeficiency 36 36 0.023
1015
NLX002 Neu-Laxova Syndrome1 36 0.023
1016
NNT023 Neonatal Progeroid Syndrome 35 0.023
1017
OST098 Osteopathia Striata Cranial Sclerosis 34 0.023
1018
CHR020 Chronic Interstitial Cystitis 33 0.023
1019
SPN021 Spinal Meningioma 33 0.023
1020
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 33 0.023
1021
INT052 Intestinal Volvulus 33 0.023
1022
GRF001 Graft-Versus-Host Disease, Protection Against 31 0.023
1023
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 31 0.023
1024
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 31 0.023
1025
BRW003 Brown Induration 31 0.023
1026
LNZ002 Lenz Majewski Hyperostotic Dwarfism 31 0.023
1027
c ADM004 Adams Oliver Syndrome 30 0.023
1028
INT003 Intracranial Hypotension 30 0.023
1029
P BRS089 Breast and Colorectal Cancer 29 0.023
1030
CLN022 Colonic Atresia 28 0.023
1031
FBR028 Fibrosing Mediastinitis 28 0.023
1032
CRT028 Cor Triatriatum 26 0.023
1033
LRY028 Laryngocele 26 0.023
1034
DRM005 Dermoid Cyst of Ovary 26 0.023
1035
BNL002 Bone Lymphoma 26 0.023
1036
ART034 Aortopulmonary Window 24 0.023
1037
GRN016 Grant Syndrome 23 0.023
1038
EXT048 Extranodal Nasal Nk/t Cell Lymphoma 23 0.023
1039
SBS002 Substernal Goiter 22 0.023
1040
URT011 Urethral Calculus 21 0.023
1041
FLL042 Folliculotropic Mycosis Fungoides 21 0.023
1042
PRM041 Primary Cortisol Resistance 21 0.023
1043
IND005 Indolent B Cell Lymphoma 21 0.023
1044
PRM151 Primary Bone Lymphoma 19 0.023
1045
LTH004 Lathyrism 19 0.023
1046
CRB135 Cerebro-Oculo-Nasal Syndrome 19 0.023
1047
OCL055 Oculo-Palato-Cerebral Syndrome 19 0.023
1048
GND006 Gonadal Dysgenesis Xy Type Associated Anomalies 18 0.023
1049
PLY046 Polysyndactyly Cardiac Malformation 17 0.023
1050
c ADL001 Adult Lymphoma 17 0.023
1051
CRB023 Cerebellopontine Angle Meningioma 17 0.023
1052
ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 17 0.023
1053
MRF013 Marfanoid Habitus - Intellectual Disability, Autosomal Recessive 15 0.023
1054
P KRB001 Krabbe Disease 84 0.019
1055
WLS001 Wilson Disease 82 0.019
1056
P ALG002 Alagille Syndrome 81 0.019
1057
P MYS003 Myasthenia Gravis 79 0.019
1058
BHC002 Behcet's Disease 79 0.019
1059
LSC001 Lesch-Nyhan Syndrome 78 0.019
1060
P PLZ001 Pelizaeus-Merzbacher Disease 78 0.019
1061
SVR004 Severe Combined Immunodeficiency 78 0.019
1062
DCH001 Duchenne Muscular Dystrophy 77 0.019
1063
P STH001 Saethre-Chotzen Syndrome 76 0.019
1064
P ALX003 Alexander Disease 76 0.019
1065
P PRP003 Porphyria Cutanea Tarda 75 0.019
1066
BLS001 Blau Syndrome 73 0.019
1067
CYS008 Cystic Echinococcosis 73 0.019
1068
P ADD001 Addison's Disease 73 0.019
1069
ADN001 Adenosine Deaminase Deficiency 73 0.019
1070
P BRD002 Bardet-Biedl Syndrome 73 0.019
1071
RLP001 Relapsing Polychondritis 72 0.019
1072
c CWD001 Cowden Disease 71 0.019
1073
P STR022 Stargardt Disease 71 0.019
1074
P JVN005 Juvenile Myoclonic Epilepsy 71 0.019
1075
P WLF004 Wolfram Syndrome 71 0.019
1076
VNW001 Von Willebrand's Disease 71 0.019
1077
NLP001 Nail-Patella Syndrome 70 0.019
1078
P JVN004 Juvenile Myelomonocytic Leukemia 70 0.019
1079
P NJM001 Nijmegen Breakage Syndrome 70 0.019
1080
P RTH001 Rothmund-Thomson Syndrome 70 0.019
1081
HYP042 Hypochondroplasia 69 0.019
1082
LKC001 Leukocyte Adhesion Deficiency 69 0.019
1083
NRL016 Neural Tube Defects 69 0.019
1084
TRC008 Trachoma 69 0.019
1085
PLY017 Polyarteritis Nodosa 69 0.019
1086
P CNG401 Congenital Heart Disease 69 0.019
1087
P END044 Endometriosis 69 0.019
1088
GST034 Gastroesophageal Reflux Disease 68 0.019
1089
ART021 Arteriosclerosis 67 0.019
1090
CRY005 Cryptococcosis 67 0.019
1091
P DGR001 Digeorge Syndrome 67 0.019
1092
GSG001 Gas Gangrene 67 0.019
1093
PST028 Post-Traumatic Stress Disorder 67 0.019
1094
MCK007 Muckle-Wells Syndrome 67 0.019
1095
ERD001 Erdheim-Chester Disease 67 0.019
1096
ALS001 Alstrom Syndrome 67 0.019
1097
PRP027 Peripheral Vascular Disease 67 0.019
1098
PBL001 Piebaldism 66 0.019
1099
P CNT004 Centronuclear Myopathy 66 0.019
1100
ACR015 Acrocephalosyndactylia 66 0.019
1101
ACT049 Acute Disseminated Encephalomyelitis 66 0.019
1102
P SLV001 Silver-Russell Syndrome 66 0.019
1103
PRP025 Peripheral Primitive Neuroectodermal Tumor 66 0.019
1104
CMP005 Campomelic Dysplasia 65 0.019
1105
CHR103 Charge Syndrome 65 0.019
1106
DBN001 Dubin-Johnson Syndrome 65 0.019
1107
BLR001 Biliary Atresia 65 0.019
1108
P ATY010 Atypical Hemolytic-Uremic Syndrome 65 0.019
1109
ALK013 Alkaptonuria 65 0.019
1110
c XRD001 Xeroderma Pigmentosum 65 0.019
1111
P DYS007 Dyskeratosis Congenita 65 0.019
1112
P RHN004 Rhinitis 64 0.019
1113
P FML052 Familial Cold Autoinflammatory Syndrome 64 0.019
1114
P UVL004 Uveal Melanoma 64 0.019
1115
BRN028 Brain Cancer 64 0.019
1116
FCT002 Factor Xi Deficiency 64 0.019
1117
c SCL016 Scleroderma 64 0.019
1118
P HRD057 Hereditary Pancreatitis 64 0.019
1119
CHL014 Cholera 64 0.019
1120
P PRT010 Parathyroid Carcinoma 64 0.019
1121
c ECL001 Eclampsia 63 0.019
1122
P FBR017 Fibrosarcoma 63 0.019
1123
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 63 0.019
1124
P CRT072 Creutzfeldt-Jakob Disease 63 0.019
1125
EPD006 Epidermolysis Bullosa Acquisita 63 0.019
1126
RBR001 Roberts Syndrome 63 0.019
1127
c ACT027 Acute Pancreatitis 63 0.019
1128
P HLT001 Holt-Oram Syndrome 63 0.019
1129
c MLG069 Malignant Hypertension 63 0.019
1130
c GLL020 Gallbladder Disease 63 0.019
1131
P ERY008 Erythromelalgia 63 0.019
1132
MTC007 Mitochondrial Complex I Deficiency 63 0.019
1133
WLL006 Wells Syndrome 63 0.019
1134
PYC001 Pycnodysostosis 63 0.019
1135
P OLG002 Oligodendroglioma 62 0.019
1136
VCT001 Vacterl Association 62 0.019
1137
P HYP013 Hypohidrotic Ectodermal Dysplasia 62 0.019
1138
LDD001 Ladd Syndrome 62 0.019
1139
CMP002 Campylobacteriosis 62 0.019
1140
c ERY009 Erythropoietic Protoporphyria 62 0.019
1141
MVL001 Mevalonic Aciduria 62 0.019
1142
TYP007 Typhoid Fever 62 0.019
1143
c HYP055 Hypoplastic Left Heart Syndrome 62 0.019
1144
P BTT005 Batten Disease 61 0.019
1145
ACR008 Acrocallosal Syndrome 61 0.019
1146
HYP066 Hyperglycemia 61 0.019
1147
P DDN001 Duodenal Ulcer 61 0.019
1148
c EPD003 Epidermolysis Bullosa Simplex 61 0.019
1149
GLC003 Glucose Intolerance 61 0.019
1150
DWN001 Down Syndrome 61 0.019
1151
P CRV035 Cervical Cancer 60 0.019
1152
CHR074 Choriocarcinoma 60 0.019
1153
CRC006 Carcinoid Syndrome 60 0.019
1154
P SCL015 Scleritis 60 0.019
1155
VSC003 Visceral Leishmaniasis 60 0.019
1156
P PRM054 Primary Sclerosing Cholangitis 60 0.019
1157
P PLY019 Polyneuropathy 60 0.019
1158
VTL002 Vitiligo 60 0.019
1159
CRN017 Coronary Thrombosis 60 0.019
1160
OLG003 Oligohydramnios 59 0.019
1161
DNN001 Danon Disease 59 0.019
1162
KRT001 Keratoconjunctivitis Sicca 59 0.019
1163
MYX005 Myxoid Liposarcoma 59 0.019
1164
MGC001 Megacolon 59 0.019
1165
MLR002 Miliary Tuberculosis 59 0.019
1166
c SLP006 Sleep Apnea 59 0.019
1167
P PRM011 Primary Ciliary Dyskinesia 58 0.019
1168
P THR090 Thrombocythemia 1 58 0.019
1169
c MTH007 Methemoglobinemia 58 0.019
1170
BLM002 Bulimia Nervosa 58 0.019
1171
c CNG124 Congenital Rubella 58 0.019
1172
P NRM001 Neuromyelitis Optica 58 0.019
1173
P HRM005 Hermansky-Pudlak Syndrome 1 58 0.019
1174
c MCP009 Mucopolysaccharidosis Ii 58 0.019
1175
P PRS038 Personality Disorder 58 0.019
1176
LPD010 Lipodystrophy 58 0.019
1177
HYP063 Hypersplenism 58 0.019
1178
P PRM100 Primary Spontaneous Pneumothorax 58 0.019
1179
c TRC011 Treacher Collins Syndrome 57 0.019
1180
END030 End Stage Renal Failure 57 0.019
1181
OBS061 Obstructive Sleep Apnea 57 0.019
1182
P DND001 Dandy-Walker Syndrome 57 0.019
1183
LNG024 Langerhans-Cell Histiocytosis 57 0.019
1184
CLS007 Classic Kaposi Sarcoma 57 0.019
1185
P MYC008 Myocarditis 57 0.019
1186
URN010 Urinary Tract Obstruction 57 0.019
1187
NRH001 Neurohypophyseal Diabetes Insipidus 57 0.019
1188
PLM020 Pleomorphic Xanthoastrocytoma 57 0.019
1189
LST001 Listeriosis 57 0.019
1190
P CRN012 Craniometaphyseal Dysplasia 57 0.019
1191
MCS001 Mucosulfatidosis 57 0.019
1192
c ISC002 Ischemic Optic Neuropathy 57 0.019
1193
THY033 Thyrotoxicosis 57 0.019
1194