Search results for "LARGE"

2869 hits were found for 'LARGE'

# Family MCID Name MIFTS Score
1
WLK001 Walker-Warburg Syndrome 59 6.853
2
c LRG009 Large-Related Muscle Diseases 5 6.684
3
P MSC005 Muscular Dystrophy 54 5.996
4
P ANP001 Anaplastic Large Cell Lymphoma 53 5.317
5
c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 15 4.861
6
DFF005 Diffuse Large B-Cell Lymphoma 50 4.818
7
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 14 4.218
8
LRG008 Large Granular Lymphocyte Leukemia 35 3.899
9
TCL002 T-Cell Large Granular Lymphocyte Leukemia 36 3.736
10
c LNG035 Lung Large Cell Carcinoma 18 3.611
11
LYM048 Lymphoma, Large-Cell, Immunoblastic 8 3.582
12
PRM163 Primary Mediastinal Large B-Cell Lymphoma 46 3.476
13
MSC077 Muscle Eye Brain Disease 47 3.456
14
ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 34 3.451
15
BRN029 Brain Disease 49 3.431
16
P MSC002 Muscular Dystrophy-Dystroglycanopathy 30 3.409
17
ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 32 3.374
18
RTC005 Reticulosarcoma 37 3.304
19
P LRG001 Large Cell Carcinoma 41 3.214
20
TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 20 3.043
21
PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 38 3.018
22
CRH001 Crohn's Disease 71 2.963
23
LRG003 Large Cell Medulloblastoma 22 2.956
24
ALK017 Alk-Positive Large B-Cell Lymphoma 17 2.956
25
LRG005 Large Cell Carcinoma with Rhabdoid Phenotype 11 2.941
26
SYS006 Say Syndrome 24 2.921
27
c THY005 Thymus Large Cell Carcinoma 8 2.921
28
LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 8 2.915
29
P LNG006 Lung Occult Large Cell Carcinoma 7 2.915
30
c LRG014 Large Cell Neuroendocrine Carcinoma 39 2.890
31
INT221 Intravascular Large B-Cell Lymphoma 46 2.866
32
PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 43 2.712
33
EPS031 Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly 16 2.608
34
c LRG002 Large Cell Acanthoma 12 2.591
35
OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 12 2.549
36
NTR003 Natural Killer Cell Leukemia 49 2.544
37
P LRG017 Large Intestine Cancer 14 2.544
38
CRV015 Cervical Large Cell Neuroendocrine Carcinoma 7 2.539
39
PTT019 Pituitary Dwarfism with Large Sella Turcica 5 2.539
40
LRG015 Large Intestine Adenoma 4 2.539
41
BRS024 Breast Large Cell Neuroendocrine Carcinoma 7 2.533
42
P LRG016 Large Intestine Adenocarcinoma 4 2.533
43
MCR265 Macrozoospermia 14 2.527
44
LRG004 Large Cell Keratinizing Variant Squamous Cell Breast Carcinoma 5 2.527
45
LRG006 Large Bowel Leiomyoma 5 2.527
46
LRG007 Large Intestine Lipoma 5 2.527
47
ZCH001 Zechi Ceide Syndrome 8 2.519
48
CNG427 Congenital Muscular Dystrophy with Intellectual Disability 19 2.410
49
PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 26 2.177
50
GRY001 Gray Zone Lymphoma 18 2.120
51
DFF029 Diffuse Large B-Cell Lymphoma of the Central Nervous System 12 2.109
52
P FCL005 Focal Segmental Glomerulosclerosis 58 2.085
53
DFF030 Diffuse Large B-Cell Lymphoma with Chronic Inflammation 6 2.073
54
ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 6 2.073
55
c PST022 Posterior Uveal Melanoma 46 2.066
56
MLN059 Male Infertility Due to Large-Headed Multiflagellar Polyploid Spermatozoa 6 2.066
57
ANP028 Anaplastic/large Cell Medulloblastoma 3 2.066
58
GNT020 Giant Congenital Nevus 34 2.057
59
LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 8 2.057
60
PLS025 Plasmablastic Lymphoma 46 1.509
61
MDS006 Mediastinal Gray Zone Lymphoma 12 1.504
62
CLR109 Colorectal Adenocarcinoma 29 1.482
63
P CLR108 Colorectal Adenoma 49 1.474
64
ANN002 Anencephaly 57 1.466
65
PCH002 Pachygyria 36 1.466
66
c GRS013 Griscelli Syndrome, Type 1 28 1.466
67
VLJ001 Viljoen Kallis Voges Syndrome 14 1.466
68
c ANP011 Anaplastic Small Cell Lymphoma 5 1.466
69
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 34 1.455
70
TRD003 Taurodontism 29 1.455
71
BLN004 Balantidiasis 26 1.455
72
P HYP078 Hypertrophy of Breast 16 1.455
73
c SPR061 Spermatogenic Failure 5 13 1.455
74
CHR068 Chronic Nk-Cell Lymphocytosis 8 1.455
75
CHR511 Charcot-Marie-Tooth Disease - Deafness - Intellectual Disability 6 1.455
76
CNT020 Central Breast Papilloma 5 1.455
77
P BCL006 B-Cell Lymphomas 47 0.591
78
P LKM002 Leukemia 66 0.237
79
NRN001 Neuroendocrine Carcinoma 50 0.210
80
MDS022 Mediastinitis 39 0.163
81
P HPT021 Hepatitis 55 0.152
82
ANR040 Aneurysm 35 0.144
83
P ADN016 Adenocarcinoma 49 0.138
84
P THY032 Thyroiditis 56 0.130
85
HDG012 Hodgkin Lymphoma 79 0.129
86
ADN018 Adenoma 55 0.120
87
PRS047 Prostatitis 51 0.120
88
P BRS047 Breast Cancer 90 0.118
89
P ART022 Arthritis 65 0.107
90
NRN002 Neuronitis 36 0.107
91
CRB009 Cerebritis 33 0.105
92
FLL037 Follicular Lymphoma 50 0.102
93
END072 Endotheliitis 44 0.100
94
P ATX004 Ataxia 50 0.098
95
P RHM011 Rheumatoid Arthritis 94 0.097
96
MLN008 Melanoma 55 0.094
97
P PNC044 Pancreatitis 59 0.091
98
LYM052 Lymphomatoid Papulosis 43 0.090
99
VSC011 Vasculitis 57 0.087
100
LPM004 Lipoma 56 0.086
101
P CRV039 Cervicitis 49 0.086
102
P OBS005 Obesity 94 0.085
103
P SCH015 Schizophrenia 79 0.085
104
ART005 Arteriovenous Malformation 53 0.085
105
P HMN010 Hemangioma 60 0.084
106
P NRP001 Neuropathy 52 0.084
107
PRC012 Pericardial Effusion 49 0.084
108
P OVR046 Ovarian Cyst 39 0.084
109
P LNG032 Lung Cancer 94 0.083
110
MYC006 Mycosis Fungoides 62 0.083
111
SRC014 Sarcoma 61 0.083
112
P SRT002 Sertoli Cell Tumor 33 0.083
113
P TRT010 Teratoma 50 0.081
114
P CLR023 Colorectal Cancer 96 0.080
115
c HPT001 Hepatitis C 57 0.080
116
BRK010 Burkitt Lymphoma 63 0.078
117
HPT023 Hepatocellular Carcinoma 95 0.076
118
RTN023 Retinitis 44 0.076
119
c SYS001 Systemic Lupus Erythematosus 91 0.074
120
MLT022 Malt Lymphoma 54 0.074
121
c HPT016 Hepatitis B 60 0.073
122
LMY002 Leiomyoma 59 0.073
123
MYM001 Myoma 46 0.073
124
PRP036 Peripheral T-Cell Lymphoma 42 0.073
125
ART016 Aortic Aneurysm 62 0.072
126
P ESP024 Esophagitis 54 0.072
127
GTR002 Goiter 53 0.072
128
P TRC086 Trichohepatoenteric Syndrome 1 39 0.072
129
P PRS040 Prostate Cancer 84 0.071
130
P MYC007 Myocardial Infarction 81 0.071
131
P LPS004 Lupus Erythematosus 67 0.071
132
PRR002 Pure Red-Cell Aplasia 46 0.071
133
AND015 Androgen Insensitivity 69 0.069
134
ODN006 Odontoma 27 0.069
135
P CHR090 Chronic Lymphocytic Leukemia 74 0.068
136
P NTR004 Neutropenia 56 0.068
137
THR013 Thoracic Outlet Syndrome 45 0.068
138
CHR010 Chorioangioma 36 0.068
139
P MNT147 Mental Retardation 46 0.066
140
GST019 Gastrointestinal Stromal Tumor 74 0.065
141
c SML001 Small Cell Carcinoma 57 0.065
142
DDN006 Duodenitis 48 0.065
143
EXT022 Exotropia 32 0.065
144
SPS057 Spasticity 32 0.065
145
P ANG001 Angelman Syndrome 66 0.064
146
PTN002 Patent Ductus Arteriosus 49 0.064
147
P HML002 Hemolytic Anemia 56 0.062
148
P LPS002 Liposarcoma 56 0.061
149
P DYS154 Dystonia 55 0.061
150
P SPN049 Spinocerebellar Ataxia 53 0.061
151
c HPT073 Hepatitis C Virus 51 0.061
152
P BLN003 Blindness 47 0.061
153
PRP005 Parapsoriasis 28 0.061
154
P MYL006 Myeloid Leukemia 64 0.059
155
ATH003 Atherosclerosis 56 0.059
156
c BSL007 Basal Cell Carcinoma 56 0.059
157
ART111 Artery Disease 55 0.059
158
CLT003 Colitis 54 0.059
159
PLM052 Pulmonary Arteriovenous Malformation 39 0.059
160
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 38 0.059
161
TBR010 Tuberculosis 73 0.058
162
P MYP004 Myopathy 53 0.058
163
P CTR002 Cataract 50 0.058
164
CHR008 Choroiditis 45 0.058
165
P TCL004 T-Cell Leukemia 43 0.058
166
c BNG076 Benign Exophthalmos Syndrome 19 0.058
167
P OST012 Osteoarthritis 80 0.056
168
P MNN013 Meningitis 58 0.056
169
P KDN018 Kidney Disease 57 0.056
170
ACN002 Acanthosis Nigricans 55 0.056
171
CVR006 Cavernous Hemangioma 50 0.056
172
c SPN225 Spondyloarthropathy 1 48 0.056
173
PRP016 Paraplegia 40 0.056
174
P AST005 Asthma 84 0.054
175
HV1006 Hiv-1 83 0.054
176
ISC004 Ischemia 53 0.054
177
P MLT074 Multiple Endocrine Neoplasia 53 0.054
178
INT051 Intussusception 53 0.054
179
URT001 Urethritis 48 0.054
180
P PRG013 Paraganglioma 46 0.054
181
c ART101 Aortic Valve Disease 2 32 0.054
182
P ATX010 Ataxia Neuropathy Spectrum 29 0.054
183
P RTN024 Retinoblastoma 75 0.053
184
DMN002 Dementia 58 0.053
185
MNT001 Mantle Cell Lymphoma 55 0.053
186
P HST010 Histiocytosis 55 0.053
187
P VNT002 Ventricular Septal Defect 47 0.053
188
P OST028 Osteochondroma 47 0.053
189
NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 40 0.053
190
CRN006 Coronary Aneurysm 40 0.053
191
ACN010 Acanthoma 39 0.053
192
P ATX030 Ataxia-Telangiectasia 76 0.051
193
P MDL005 Medulloblastoma 71 0.051
194
P CLC005 Celiac Disease 69 0.051
195
MYL009 Myelodysplastic Syndrome 67 0.051
196
P HMP002 Hemophagocytic Lymphohistiocytosis 54 0.051
197
P MYL007 Myeloma 53 0.051
198
VGN023 Vaginitis 51 0.051
199
GST027 Gastric Lymphoma 42 0.051
200
ABD010 Abdominal Wall Defect 32 0.051
201
CYS001 Cystic Fibrosis 92 0.049
202
P RNL014 Renal Cell Carcinoma 83 0.049
203
P CRN211 Coronary Artery Disease 73 0.049
204
P RTN008 Retinitis Pigmentosa 72 0.049
205
P NRF002 Neurofibromatosis 69 0.049
206
P PNM007 Pneumonia 64 0.049
207
c ATM010 Autoimmune Hemolytic Anemia 57 0.049
208
P THR014 Thrombocytopenia 56 0.049
209
P STR020 Strabismus 44 0.049
210
P PHC003 Pheochromocytoma 79 0.047
211
c MLT019 Multiple Myeloma 75 0.047
212
PTZ001 Peutz-Jeghers Syndrome 68 0.047
213
P ABD003 Abdominal Aortic Aneurysm 58 0.047
214
P HRP006 Herpes Simplex 63 0.047
215
ULC004 Ulcerative Colitis 63 0.047
216
PRT014 Protein S Deficiency 55 0.047
217
CHL067 Cholecystitis 53 0.047
218
PTT006 Pituitary Adenoma 52 0.047
219
MRG003 Marginal Zone B-Cell Lymphoma 51 0.047
220
P CNT005 Central Nervous System Lymphoma 45 0.047
221
TRC040 Tracheoesophageal Fistula 44 0.047
222
P LTR001 Lateral Sclerosis 43 0.047
223
CYS009 Cystadenoma 43 0.047
224
OMP004 Omphalocele 43 0.047
225
KRT012 Keratoderma 39 0.047
226
HTS001 Hiatus Hernia 38 0.047
227
HMT018 Hematopoietic Stem Cell Transplantation 36 0.047
228
P CRN074 Coronary Artery Aneurysm 35 0.047
229
ANG046 Angioimmunoblastic T-Cell Lymphoma 34 0.047
230
P MNN007 Meningocele 34 0.047
231
EST005 Esotropia 34 0.047
232
BRN055 Bronchogenic Cyst 32 0.047
233
MRF001 Marfan Syndrome 75 0.045
234
P WSK001 Wiskott-Aldrich Syndrome 69 0.045
235
P NRB001 Neuroblastoma 68 0.045
236
P MYS005 Myositis 63 0.045
237
CHL065 Cholangiocarcinoma 59 0.045
238
MSL001 Measles 58 0.045
239
P HYD006 Hydrocephalus 56 0.045
240
PPL022 Papilloma 55 0.045
241
c HRD010 Hereditary Spastic Paraplegia 62 0.045
242
MYL020 Myelomeningocele 54 0.045
243
P MMP001 Mumps 51 0.045
244
NRN004 Neuroendocrine Tumor 50 0.045
245
P AXN010 Axenfeld-Rieger Syndrome, Type 3 50 0.045
246
HYP266 Hypoxia 49 0.045
247
ART001 Arterial Tortuosity Syndrome 48 0.045
248
PTT037 Pituitary Tumors 46 0.045
249
P INF032 Infertility 46 0.045
250
P CYS017 Cystic Teratoma 38 0.045
251
RCH001 Richter's Syndrome 29 0.045
252
P PLM037 Pulmonary Hypertension 85 0.043
253
CMM004 Common Variable Immunodeficiency 67 0.043
254
P LYN001 Lynch Syndrome 66 0.043
255
THY028 Thyroid Cancer 63 0.043
256
P AMY004 Amyloidosis 63 0.043
257
P LVR013 Liver Disease 62 0.043
258
P AND016 Andersen Syndrome 54 0.043
259
P DBT005 Diabetes Insipidus 53 0.043
260
P MST018 Mesothelioma 51 0.043
261
P QFV001 Q Fever 49 0.043
262
MCR004 Macroglobulinemia 48 0.043
263
P OPH004 Ophthalmoplegia 47 0.043
264
CRD001 Cardiac Tamponade 46 0.043
265
NPH051 Nephritis 46 0.043
266
PRC013 Pericarditis 45 0.043
267
PRT039 Proteinuria 43 0.043
268
ANG018 Angiomyolipoma 43 0.043
269
EXS001 Exostosis 43 0.043
270
P APL006 Aplasia Cutis Congenita 42 0.043
271
GNG002 Ganglioneuroma 42 0.043
272
BRN106 Burns 42 0.043
273
FBR054 Fibroma 39 0.043
274
P INF037 Inflammatory Bowel Disease 39 0.043
275
CHL039 Choledocholithiasis 39 0.043
276
PNN001 Panniculitis 38 0.043
277
CMP001 Composite Lymphoma 33 0.043
278
P RTT002 Rett Syndrome 73 0.041
279
END057 Endometrial Cancer 71 0.041
280
ACR007 Acromegaly 69 0.041
281
P FRG001 Fragile X Syndrome 66 0.041
282
P LNG028 Long Qt Syndrome 62 0.041
283
P FRD001 Friedreich Ataxia 61 0.041
284
PRT036 Peritonitis 61 0.041
285
P CHR071 Charcot-Marie-Tooth Disease 60 0.041
286
P INF038 Influenza 67 0.041
287
DRM006 Dermatitis 58 0.041
288
P HYP004 Hypercalcemia 57 0.041
289
P ENC004 Encephalitis 56 0.041
290
P EHL001 Ehlers-Danlos Syndrome 56 0.041
291
FLT001 Felty's Syndrome 55 0.041
292
P HYP098 Hypereosinophilic Syndrome 55 0.041
293
P CRB042 Cerebellar Ataxia 54 0.041
294
P ESN007 Eosinophilia 54 0.041
295
CLB001 Coloboma 54 0.041
296
HYD012 Hydrops Fetalis 53 0.041
297
HYP056 Hypoglycemia 53 0.041
298
PLM014 Pleomorphic Adenoma 53 0.041
299
P INT070 Intestinal Obstruction 53 0.041
300
c ACT075 Acute Myocardial Infarction 57 0.041
301
PRL009 Prolactinoma 50 0.041
302
c HPT015 Hepatitis D 50 0.041
303
PLS011 Plasmacytoma 49 0.041
304
NRF007 Neurofibroma 49 0.041
305
P ENC008 Encephalocele 49 0.041
306
P SNS014 Sinusitis 56 0.041
307
P SYP003 Syphilis 48 0.041
308
MRK001 Merkel Cell Carcinoma 48 0.041
309
SNS001 Sensorineural Hearing Loss 48 0.041
310
P END033 Endocarditis 48 0.041
311
P GNT008 Giant Cell Tumor 47 0.041
312
LYM022 Lymphangioma 46 0.041
313
TTH006 Tooth Disease 46 0.041
314
KRT009 Keratosis 45 0.041
315
P LYM025 Lymphedema 45 0.041
316
SFT003 Soft Tissue Sarcoma 44 0.041
317
MYC033 Myoclonus 39 0.041
318
PRL017 Prolymphocytic Leukemia 36 0.041
319
P HRD008 Hereditary Hemorrhagic Telangiectasia 75 0.038
320
P TBR001 Tuberous Sclerosis 68 0.038
321
P BPL003 Bipolar Disorder 65 0.038
322
c NRF018 Neurofibromatosis, Type 1 65 0.038
323
MGR002 Migraine 64 0.038
324
GLL008 Gilles De La Tourette Syndrome 64 0.038
325
P THL005 Thalassemia 64 0.038
326
P PRD008 Periodontitis 59 0.038
327
P HMP007 Hemophilia 59 0.038
328
P MYT002 Myotonic Dystrophy 57 0.038
329
P PRM006 Primary Biliary Cirrhosis 56 0.038
330
SMT008 Smith-Magenis Syndrome 56 0.038
331
DFC004 Deficiency Anemia 54 0.038
332
P PLY014 Polycystic Kidney Disease 53 0.038
333
GNG013 Gingivitis 52 0.038
334
BRN002 Bronchiolitis 52 0.038
335
PTN001 Patent Foramen Ovale 52 0.038
336
P OPN001 Open-Angle Glaucoma 51 0.038
337
EPD016 Epidermolysis Bullosa 49 0.038
338
P HYP083 Hypopituitarism 47 0.038
339
ACQ007 Acquired Immunodeficiency Syndrome 46 0.038
340
PLY013 Polymyalgia Rheumatica 45 0.038
341
P GRN010 Granular Cell Tumor 45 0.038
342
GST045 Gastroenteritis 45 0.038
343
P DRR001 Diarrhea 44 0.038
344
LYM012 Lymphoplasmacytic Lymphoma 43 0.038
345
MCL003 Macular Holes 43 0.038
346
PNM008 Pneumothorax 43 0.038
347
SYN046 Syndrome of Inappropriate Antidiuretic Hormone 43 0.038
348
MTH009 Mouth Disease 43 0.038
349
INF058 Inflammatory Myofibroblastic Tumor 42 0.038
350
P KBK002 Kabuki Syndrome 1 42 0.038
351
DYS015 Dysentery 41 0.038
352
AZS001 Azoospermia 41 0.038
353
ACT055 Actinomycosis 40 0.038
354
SCR024 Sacrococcygeal Teratoma 40 0.038
355
CRV045 Cervical Intraepithelial Neoplasia 39 0.038
356
ARC002 Arachnoiditis 39 0.038
357
INT079 Intrahepatic Cholangiocarcinoma 34 0.038
358
GST064 Gastric Outlet Obstruction 33 0.038
359
KLD001 Keloids 31 0.038
360
BLD045 Bladder Diverticulum 25 0.038
361
ATR055 Atrial Septal Aneurysm 20 0.038
362
RTR012 Retroperitoneal Liposarcoma 19 0.038
363
P OST002 Osteoporosis 71 0.036
364
LVR012 Liver Cirrhosis 66 0.036
365
ANR002 Aniridia 61 0.036
366
P ATR011 Atrial Fibrillation 62 0.036
367
P HYP086 Hypothyroidism 59 0.036
368
P HYP061 Hypertrophic Cardiomyopathy 59 0.036
369
P DST002 Distal Arthrogryposis 58 0.036
370
P PLM036 Pulmonary Fibrosis 64 0.036
371
P THY023 Thymoma 57 0.036
372
P HYP069 Hyperparathyroidism 57 0.036
373
P UVT001 Uveitis 57 0.036
374
P MCP010 Mucopolysaccharidosis 56 0.036
375
c MLG054 Malignant Histiocytosis 55 0.036
376
PRT011 Protein C Deficiency 54 0.036
377
ART031 Aortic Coarctation 52 0.036
378
P HYP080 Hypogonadism 51 0.036
379
P THR003 Thoracic Aortic Aneurysm 50 0.036
380
CHN010 Chondroma 50 0.036
381
THR004 Thrombocytosis 50 0.036
382
ARC007 Arachnoid Cysts 49 0.036
383
RHB003 Rhabdomyosarcoma 49 0.036
384
ANG020 Angiosarcoma 49 0.036
385
SPN051 Spondylitis 48 0.036
386
CMP034 Complete Androgen Insensitivity Syndrome 48 0.036
387
P INT030 Intracranial Aneurysm 48 0.036
388
P PRT029 Parathyroid Adenoma 46 0.036
389
PRM042 Primary Effusion Lymphoma 46 0.036
390
P CHL066 Cholangitis 45 0.036
391
MCN001 Mucinous Adenocarcinoma 45 0.036
392
P CPL003 Capillary Leak Syndrome 45 0.036
393
LYM051 Lymphomatoid Granulomatosis 43 0.036
394
P SYN001 Syndactyly 43 0.036
395
HYD005 Hydrocele 43 0.036
396
P LCT001 Lactic Acidosis 42 0.036
397
NSP002 Nasopharyngitis 40 0.036
398
P ART084 Arteriovenous Fistula 40 0.036
399
SPL018 Splenomegaly 40 0.036
400
FTT001 Fatty Liver Disease 39 0.036
401
CYT008 Cytomegalovirus Infection 39 0.036
402
ILS001 Ileus 38 0.036
403
OCL022 Ocular Melanoma 32 0.036
404
P DYS005 Dyslexia 30 0.036
405
TFT003 Tufting Enteropathy 26 0.036
406
BRS001 Breast Lymphoma 22 0.036
407
EPG004 Epignathus 19 0.036
408
P OST005 Osteogenesis Imperfecta 77 0.033
409
FBR012 Fabry Disease 76 0.033
410
PLY001 Polycythemia Vera 75 0.033
411
MLR004 Malaria 81 0.033
412
P ATM006 Autoimmune Lymphoproliferative Syndrome 66 0.033
413
MLG056 Malignant Hyperthermia 62 0.033
414
P BCK002 Beckwith-Wiedemann Syndrome 61 0.033
415
ALC007 Alcohol Dependence 60 0.033
416
P ALP004 Alport Syndrome 60 0.033
417
CRB039 Cerebrovascular Disease 59 0.033
418
P PLY018 Polycythemia 58 0.033
419
P PRP029 Porphyria 57 0.033
420
P GT001 Gout 56 0.033
421
IRR002 Irritable Bowel Syndrome 56 0.033
422
P LRY019 Laryngitis 56 0.033
423
P SCH018 Schizencephaly 55 0.033
424
P USH001 Usher Syndrome 55 0.033
425
P NRN021 Neuronal Ceroid Lipofuscinosis 55 0.033
426
P EPN002 Ependymoma 55 0.033
427
P HYP076 Hyperthyroidism 54 0.033
428
P FTL001 Fetal Alcohol Syndrome 54 0.033
429
PRT037 Pertussis 54 0.033
430
P LMY004 Leiomyosarcoma 53 0.033
431
RSD004 Rosai-Dorfman Disease 53 0.033
432
TTR011 Tetraploidy 52 0.033
433
PMP001 Pemphigus 51 0.033
434
ECH003 Echinococcosis 51 0.033
435
LYM019 Lymphosarcoma 50 0.033
436
HMM003 Hemimegalencephaly 49 0.033
437
EXT010 Extramedullary Plasmacytoma 49 0.033
438
PPL002 Papillary Carcinoma 49 0.033
439
P PRT013 Portal Hypertension 49 0.033
440
PRK001 Porokeratosis 48 0.033
441
P PLY006 Polydactyly 48 0.033
442
c MLT024 Multiple Endocrine Neoplasia Iia 49 0.033
443
ADR008 Adrenal Adenoma 48 0.033
444
FBR009 Fibrous Dysplasia 47 0.033
445
c EHL057 Ehlers-Danlos Syndrome, Type Iv 48 0.033
446
PRT019 Protein-Losing Enteropathy 47 0.033
447
P OTS001 Otosclerosis 46 0.033
448
c ADN012 Adenocarcinoma in Situ 45 0.033
449
P EPS003 Episodic Ataxia 45 0.033
450
P SPN183 Spontaneous Pneumothorax 45 0.033
451
LPS007 Lupus Nephritis 44 0.033
452
CHL052 Choledochal Cyst 43 0.033
453
PYG006 Pyogenic Granuloma 42 0.033
454
c CNT035 Central Nervous System Disease 42 0.033
455
SMN007 Seminoma 42 0.033
456
P MYP006 Myopia 41 0.033
457
SPL004 Splenic Marginal Zone Lymphoma 40 0.033
458
c ADL017 Adult T-Cell Leukemia 40 0.033
459
HYP064 Hypogonadotropism 39 0.033
460
TNG009 Tongue Squamous Cell Carcinoma 47 0.033
461
HRS011 Horseshoe Kidney 38 0.033
462
c HMN021 Human T-Cell Leukemia Virus Type 1 37 0.033
463
DCT002 Ductal Carcinoma in Situ 36 0.033
464
CDQ001 Cauda Equina Syndrome 35 0.033
465
c SYS043 Systemic Lupus Erythematosus 1 30 0.033
466
ADS002 Adie Syndrome 30 0.033
467
P CRB059 Cerebellar Degeneration 29 0.033
468
PLM064 Pulmonary Sequestration 28 0.033
469
HNM002 Hinman Syndrome 26 0.033
470
HPT070 Hepatosplenic T-Cell Lymphoma 22 0.033
471
BLD041 Bladder Calculus 17 0.033
472
P LFR001 Li-Fraumeni Syndrome 81 0.030
473
P DLT002 Dilated Cardiomyopathy 77 0.030
474
GLC006 Galactosemia 75 0.030
475
ADN021 Adenomatous Polyposis Coli 75 0.030
476
CDS001 Cadasil 73 0.030
477
P LPR003 Leprosy 71 0.030
478
CNG034 Congestive Heart Failure 69 0.030
479
P PRM002 Primary Hyperoxaluria 68 0.030
480
P MYL005 Myelofibrosis 68 0.030
481
P RBN001 Rubinstein-Taybi Syndrome 67 0.030
482
P ESS003 Essential Thrombocythemia 66 0.030
483
P HYP035 Hypophosphatasia 64 0.030
484
LSH001 Leishmaniasis 63 0.030
485
ASP006 Aspergillosis 63 0.030
486
P PRM019 Premature Ovarian Failure 63 0.030
487
TKY001 Takayasu's Arteritis 60 0.030
488
P NPH012 Nephrotic Syndrome 60 0.030
489
BLL006 Bullous Pemphigoid 60 0.030
490
CST001 Costello Syndrome 59 0.030
491
DRM014 Dermatofibrosarcoma Protuberans 59 0.030
492
P PLY011 Polycystic Ovary Syndrome 59 0.030
493
P GLM007 Glomerulonephritis 59 0.030
494
P THR015 Thrombophilia 57 0.030
495
GST023 Gastric Ulcer 57 0.030
496
SHG001 Shigellosis 56 0.030
497
PLM033 Pulmonary Embolism 56 0.030
498
P BRG001 Brugada Syndrome 56 0.030
499
P LYM026 Lymphoblastic Leukemia 55 0.030
500
URT039 Urticaria 55 0.030
501
P NPH005 Nephronophthisis 54 0.030
502
CRN036 Craniopharyngioma 54 0.030
503
CRY003 Cryptosporidiosis 53 0.030
504
HMT002 Hematologic Cancer 52 0.030
505
BTL001 Botulism 52 0.030
506
P ANG015 Angioedema 51 0.030
507
P GLY013 Glycogen Storage Disease 51 0.030
508
SPN020 Spondylosis 51 0.030
509
SYN007 Synovitis 51 0.030
510
NRL005 Neurilemmoma 50 0.030
511
GNR005 Gonorrhea 50 0.030
512
GLM008 Glomus Tumor 51 0.030
513
P RTN025 Retinoschisis 50 0.030
514
THY022 Thymic Carcinoma 50 0.030
515
CLL003 Cellulitis 50 0.030
516
P SYR001 Syringomyelia 49 0.030
517
P MCR010 Microcephaly 49 0.030
518
ECT006 Ectodermal Dysplasia 48 0.030
519
VND002 Van Der Woude Syndrome 48 0.030
520
P TRM003 Tremor 48 0.030
521
VSC002 Vascular Dementia 48 0.030
522
c CHR285 Chronic Myelomonocytic Leukemia 48 0.030
523
RTN017 Retinal Detachment 48 0.030
524
PLM034 Pulmonary Emphysema 53 0.030
525
P HYP014 Hyperuricemia 47 0.030
526
HYP458 Hyper Ige Syndrome 47 0.030
527
OSS001 Ossifying Fibroma 47 0.030
528
PTT004 Pituitary Apoplexy 46 0.030
529
DFF019 Diffuse Gastric Cancer 45 0.030
530
HYP037 Hyperhomocysteinemia 45 0.030
531
P CTN015 Cutaneous T Cell Lymphoma 45 0.030
532
P MSC003 Muscular Atrophy 44 0.030
533
HST016 Histiocytic Sarcoma 44 0.030
534
NDL007 Nodular Goiter 44 0.030
535
INT066 Interstitial Lung Disease 44 0.030
536
IMP002 Imperforate Anus 44 0.030
537
CYS016 Cystic Kidney 44 0.030
538
c ATM024 Autoimmune Pancreatitis 44 0.030
539
ALB002 Albinism 43 0.030
540
ACS001 Acoustic Neuroma 43 0.030
541
P HML001 Hemolytic-Uremic Syndrome 43 0.030
542
BRS051 Breast Disease 43 0.030
543
LYM027 Lymphopenia 43 0.030
544
P GGN002 Gigantism 43 0.030
545
OBS001 Obstructive Jaundice 42 0.030
546
c MNN025 Mannosidosis, Alpha-, Types I and Ii 41 0.030
547
DVR002 Diverticulitis 41 0.030
548
c PRM046 Primary Malignant Lymphoma 41 0.030
549
PLX002 Plexiform Neurofibroma 41 0.030
550
P PNC001 Pancytopenia 41 0.030
551
RFR003 Refractive Error 40 0.030
552
FBR019 Fibromatosis 40 0.030
553
RTR011 Retroperitoneal Fibrosis 39 0.030
554
PHL006 Phelan-Mcdermid Syndrome 39 0.030
555
P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 39 0.030
556
DYS018 Dysostosis 38 0.030
557
VLL006 Villous Adenoma 38 0.030
558
INF034 Infective Endocarditis 38 0.030
559
CHR276 Chronic Active Epstein-Barr Virus Infection 37 0.030
560
SPR005 Superficial Basal Cell Carcinoma 37 0.030
561
GYN001 Gynecomastia 37 0.030
562
c CHR417 Chronic Graft Versus Host Disease 37 0.030
563
CRB004 Cerebral Artery Occlusion 36 0.030
564
SPS019 Spastic Paraparesis 35 0.030
565
SPR035 Superior Vena Cava Syndrome 34 0.030
566
UTR039 Uterine Fibroid 34 0.030
567
MDD003 Middle Cerebral Artery Infarction 33 0.030
568
c SYS007 Systemic Capillary Leak Syndrome 32 0.030
569
ZMM001 Zimmermann-Laband Syndrome 32 0.030
570
VRL011 Viral Infectious Disease 31 0.030
571
MLK004 Malakoplakia 31 0.030
572
c FML108 Familial Breast Cancer 29 0.030
573
SPL007 Splenic Abscess 25 0.030
574
MYC014 Mycobacterium Chelonae 23 0.030
575
ACR037 Acromegaloid Facial Appearance Syndrome 23 0.030
576
NRN006 Neuroendocrine Carcinoma of the Cervix 22 0.030
577
DDN009 Duodenal Obstruction 22 0.030
578
c ACT036 Acute Cholangitis 19 0.030
579
HYP047 Hypertropia 16 0.030
580
P ALZ034 Alzheimer Disease 100 0.027
581
P PNC035 Pancreatic Cancer 82 0.027
582
PHN003 Phenylketonuria 73 0.027
583
c HMP004 Hemophilia B 72 0.027
584
OBS002 Obsessive-Compulsive Disorder 69 0.027
585
c LKM061 Leukemia, Acute Myeloid 69 0.027
586
c FNC027 Fanconi Anemia, Complementation Group a 68 0.027
587
ESP021 Esophageal Cancer 67 0.027
588
P CNG368 Congenital Adrenal Hyperplasia 66 0.027
589
P PSD087 Pseudoxanthoma Elasticum 66 0.027
590
P HLP001 Holoprosencephaly 65 0.027
591
c HMP029 Hemophilia a 66 0.027
592
SKN016 Skin Disease 64 0.027
593
CHR012 Chronic Granulomatous Disease 64 0.027
594
HST011 Histoplasmosis 64 0.027
595
CFF002 Coffin-Lowry Syndrome 63 0.027
596
P CCK001 Cockayne Syndrome 62 0.027
597
WRN001 Werner Syndrome 62 0.027
598
P PND002 Pendred Syndrome 62 0.027
599
ATT013 Attention Deficit-Hyperactivity Disorder 63 0.027
600
P TMP003 Temporal Arteritis 62 0.027
601
CHR029 Choroid Plexus Papilloma 61 0.027
602
P MCH002 Machado-Joseph Disease 61 0.027
603
SCH014 Schistosomiasis 60 0.027
604
KRT004 Keratitis 60 0.027
605
P GLB002 Glioblastoma 59 0.027
606
P RCK004 Rickets 58 0.027
607
P LBR001 Leber Congenital Amaurosis 58 0.027
608
c PRC016 Pre-Eclampsia 58 0.027
609
WLL001 Williams-Beuren Syndrome 58 0.027
610
c ATM003 Autoimmune Thyroiditis 58 0.027
611
GLL018 Gallbladder Cancer 58 0.027
612
P SPN046 Spinal Muscular Atrophy 57 0.027
613
P CRN015 Cornelia De Lange Syndrome 57 0.027
614
INS024 Insulin-Like Growth Factor I 58 0.027
615
P MLT007 Multiple Epiphyseal Dysplasia 57 0.027
616
CNR002 Cone-Rod Dystrophy 56 0.027
617
PHR003 Pharyngitis 56 0.027
618
P GST044 Gastritis 56 0.027
619
P ATP001 Atopic Dermatitis 56 0.027
620
MGL001 Megaloblastic Anemia 56 0.027
621
WLD002 Waldenstrom Macroglobulinemia 56 0.027
622
P CHN012 Chondrosarcoma 56 0.027
623
CHR066 Chronic Fatigue Syndrome 55 0.027
624
SQM013 Squamous Cell Carcinoma, Head and Neck 64 0.027
625
GRV001 Graves' Disease 54 0.027
626
P PSR002 Psoriasis 54 0.027
627
SPN186 Spinal Cord Injury 54 0.027
628
BBS001 Babesiosis 54 0.027
629
P CND004 Candidiasis 54 0.027
630
PRP030 Purpura 54 0.027
631
P MTR004 Maturity-Onset Diabetes of the Young 54 0.027
632
ADL030 Adult-Onset Still's Disease 54 0.027
633
P ACR001 Aicardi-Goutieres Syndrome 54 0.027
634
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 54 0.027
635
P PRC019 Precocious Puberty 53 0.027
636
P CNG001 Congenital Myasthenic Syndrome 53 0.027
637
ACH005 Achalasia 53 0.027
638
DSS009 Disseminated Intravascular Coagulation 52 0.027
639
CLD007 Cold Agglutinin Disease 52 0.027
640
P AGM001 Agammaglobulinemia 59 0.027
641
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.027
642
ASP003 Aseptic Meningitis 52 0.027
643
PLM001 Pulmonary Tuberculosis 60 0.027
644
c ATM011 Autoimmune Hepatitis 51 0.027
645
P CPL006 Capillary Hemangioma 51 0.027
646
ISC006 Ischemic Heart Disease 51 0.027
647
MYC002 Mycobacterium Avium Complex Disease 51 0.027
648
P FML161 Familial Mediterranean Fever, Ar 51 0.027
649
P HMN013 Hemangiopericytoma 51 0.027
650
CHC001 Chickenpox 51 0.027
651
LNG024 Langerhans-Cell Histiocytosis 51 0.027
652
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 51 0.027
653
ALP008 Alopecia 51 0.027
654
BRN012 Bronchiolitis Obliterans 50 0.027
655
c HRD117 Hereditary Breast Cancer 51 0.027
656
P INT068 Intestinal Disease 50 0.027
657
CHL068 Cholestasis 50 0.027
658
CNN005 Connective Tissue Disease 50 0.027
659
HDC001 Headache 50 0.027
660
ADR015 Adrenocortical Carcinoma 49 0.027
661
ISC002 Ischemic Optic Neuropathy 49 0.027
662
KRT006 Keratoconjunctivitis 48 0.027
663
RNL007 Renal Tubular Acidosis 48 0.027
664
ADN009 Adenosquamous Carcinoma 48 0.027
665
ANG011 Angiodysplasia 48 0.027
666
LYM006 Lymphoepithelioma-Like Carcinoma 47 0.027
667
HMN009 Hemangioblastoma 47 0.027
668
PRT018 Portal Vein Thrombosis 47 0.027
669
LMB002 Lambert-Eaton Myasthenic Syndrome 47 0.027
670
DPH001 Diphtheria 47 0.027
671
MLN007 Male Infertility 46 0.027
672
CYS002 Cystic Lymphangioma 46 0.027
673
P STS008 Sotos Syndrome 1 46 0.027
674
PRM003 Premature Ejaculation 46 0.027
675
PLM031 Poliomyelitis 45 0.027
676
P LKD001 Leukodystrophy 45 0.027
677
TCK001 Tick-Borne Encephalitis 45 0.027
678
P AML002 Amelogenesis Imperfecta 45 0.027
679
BLS007 Blastic Plasmacytoid Dendritic Cell 45 0.027
680
P HYD002 Hydronephrosis 45 0.027
681
P GLT023 Glutaric Acidemia Iic 45 0.027
682
PRG009 Progressive Multifocal Leukoencephalopathy 45 0.027
683
DYS073 Dysphagia 45 0.027
684
GRN007 Granuloma Annulare 44 0.027
685
PRP023 Peripheral Neuropathy 44 0.027
686
PRN049 Paraneoplastic Pemphigus 44 0.027
687
c SVR056 Severe Hemophilia a 43 0.027
688
MST005 Mastitis 43 0.027
689
P CST002 Castleman's Disease 42 0.027
690
P SJG001 Sjogren's Syndrome 42 0.027
691
P SPN016 Spondylocostal Dysostosis 42 0.027
692
TLN003 Telangiectasis 41 0.027
693
CHN016 Cohen Syndrome 40 0.027
694
WST005 West Nile Virus 40 0.027
695
KRT005 Keratoacanthoma 40 0.027
696
MYX013 Myxofibrosarcoma 40 0.027
697
CNS002 Constrictive Pericarditis 40 0.027
698
VRC005 Varicose Veins 40 0.027
699
ESN011 Eisenmenger Syndrome 40 0.027
700
P MLT008 Multinodular Goiter 40 0.027
701
P CNG024 Congenital Nystagmus 40 0.027
702
NRM004 Neuroma 39 0.027
703
LNG017 Lung Giant Cell Carcinoma 39 0.027
704
P VNS003 Venous Insufficiency 39 0.027
705
BRN105 Burn Scar 39 0.027
706
ODN005 Odontogenic Myxoma 38 0.027
707
CRN025 Corneal Dystrophy 38 0.027
708
BRS090 Breast Reconstruction 38 0.027
709
OST006 Osteoblastoma 38 0.027
710
CRT015 Carotid Artery Occlusion 37 0.027
711
MYT011 Myotonia 37 0.027
712
TRN012 Transient Global Amnesia 37 0.027
713
OBS004 Obstructive Hydrocephalus 36 0.027
714
CND006 Candida Glabrata 36 0.027
715
NNS011 Nonseminomatous Germ Cell Tumor 35 0.027
716
P HYP087 Hypotrichosis 35 0.027
717
PRS045 Prostatic Hypertrophy 35 0.027
718
OPS002 Opsismodysplasia 34 0.027
719
EPG003 Epiglottitis 34 0.027
720
OLV002 Oliver Syndrome 33 0.027
721
SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 33 0.027
722
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 34 0.027
723
URT020 Ureterocele 33 0.027
724
c BPL002 Bipolar I Disorder 33 0.027
725
GRN003 Granulomatous Dermatitis 33 0.027
726
IPX001 Ipex Syndrome 32 0.027
727
INP001 Inappropriate Adh Syndrome 31 0.027
728
TST004 Testicular Lymphoma 31 0.027
729
LNG039 Lung Squamous Cell Carcinoma 30 0.027
730
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 30 0.027
731
PLM074 Pulmonary Function 30 0.027
732
PHC004 Phace Syndrome 30 0.027
733
c HRD088 Hereditary Neuropathies 29 0.027
734
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 28 0.027
735
UND005 Undifferentiated Pleomorphic Sarcoma 28 0.027
736
DNC004 Diencephalic Syndrome 26 0.027
737
GST039 Gastroduodenitis 25 0.027
738
EPD046 Epididymitis 24 0.027
739
SPL005 Splenic Artery Aneurysm 24 0.027
740
END016 Endocervicitis 23 0.027
741
PRN032 Paraneoplastic Cerebellar Degeneration 23 0.027
742
c LNG064 Lung Cancer Susceptibility 3 32 0.027
743
URT016 Urethral Diverticulum 21 0.027
744
PSD084 Pseudo-Meigs Syndrome 21 0.027
745
HYP179 Hypertrichosis Congenital Generalized X-Linked 20 0.027
746
CYS015 Cystadenofibroma 19 0.027
747
AND005 Androgen Insensitivity Syndrome, Mild 17 0.027
748
MNT031 Mental Retardation Wolff Type 17 0.027
749
SNL003 Senile Angioma 15 0.027
750
c LKM005 Leukemia, T-Cell, Chronic 15 0.027
751
CHR170 Choroid Plexus Cyst 14 0.027
752
DST038 Distal Monosomy 7q36 13 0.027
753
P APL001 Aplastic Anemia 76 0.024
754
P CSH001 Cushing's Syndrome 76 0.024
755
P HMC003 Hemochromatosis 75 0.024
756
c AMY091 Amyotrophic Lateral Sclerosis 1 82 0.024
757
WLS001 Wilson Disease 74 0.024
758
P CLD001 Cleidocranial Dysplasia 70 0.024
759
PRP003 Porphyria Cutanea Tarda 69 0.024
760
TTR001 Tetralogy of Fallot 67 0.024
761
P LYM007 Lymphangioleiomyomatosis 65 0.024
762
NRR002 Norrie Disease 65 0.024
763
P BRD002 Bardet-Biedl Syndrome 65 0.024
764
P PRD006 Prader-Willi Syndrome 64 0.024
765
ABT001 Abetalipoproteinemia 63 0.024
766
P AST007 Astrocytoma 63 0.024
767
P DRM010 Dermatomyositis 62 0.024
768
P RSP003 Respiratory Failure 62 0.024
769
LPR018 Leprechaunism 62 0.024
770
P MST009 Mastocytosis 61 0.024
771
PRG004 Progeria 61 0.024
772
c ESS001 Essential Tremor 61 0.024
773
P KLL001 Kallmann Syndrome 60 0.024
774
ALV002 Alveolar Echinococcosis 60 0.024
775
P CRN037 Craniosynostosis 60 0.024
776
P OST009 Osteochondritis Dissecans 59 0.024
777
GST092 Gastroesophageal Reflux 60 0.024
778
PSD007 Pseudomyxoma Peritonei 59 0.024
779
VSC007 Vascular Disease 59 0.024
780
STR008 Strongyloidiasis 58 0.024
781
EWN003 Ewing Sarcoma 59 0.024
782
P TRN020 Turner Syndrome 58 0.024
783
c PRM005 Primary Hyperparathyroidism 58 0.024
784
P HRS035 Hirschsprung Disease 1 58 0.024
785
P TXP001 Toxoplasmosis 56 0.024
786
P DRM007 Dermatitis Herpetiformis 56 0.024
787
c ALM001 Al Amyloidosis 56 0.024
788
ARS001 Aarskog-Scott Syndrome 56 0.024
789
CHL014 Cholera 56 0.024
790
PMS001 Poems Syndrome 56 0.024
791
P ALP009 Alopecia Areata 56 0.024
792
MXD005 Mixed Connective Tissue Disease 56 0.024
793
CRC006 Carcinoid Syndrome 55 0.024
794
c ACT027 Acute Pancreatitis 55 0.024
795
CPR001 Coproporphyria 56 0.024
796
LBR002 Leber Hereditary Optic Neuropathy 55 0.024
797
c VRL010 Viral Hepatitis 54 0.024
798
P PCH001 Pachyonychia Congenita 54 0.024
799
TRN018 Transitional Cell Carcinoma 54 0.024
800
BSL036 Basal Cell Nevus Syndrome 55 0.024
801
CHR072 Chordoma 54 0.024
802
TTN003 Tetanus 54 0.024
803
LYM009 Lymphocytic Choriomeningitis 54 0.024
804
P ART023 Arthropathy 54 0.024
805
P ECL001 Eclampsia 53 0.024
806
SMT003 Somatostatinoma 53 0.024
807
HPT022 Hepatoblastoma 53 0.024
808
SPN027 Spinal Stenosis 53 0.024
809
P CNJ013 Conjunctivitis 53 0.024
810
MTR014 Motor Neuron Disease 53 0.024
811
BRC012 Brucellosis 53 0.024
812
PGM001 Pigmented Villonodular Synovitis 53 0.024
813
KND001 Kindler Syndrome 52 0.024
814
EDW001 Edwards Syndrome 52 0.024
815
c LKM063 Leukemia, Chronic Myeloid 53 0.024
816
KRN002 Kearns-Sayre Syndrome 52 0.024
817
NPH018 Nephrogenic Systemic Fibrosis 52 0.024
818
DBT001 Diabetic Ketoacidosis 52 0.024
819
P PLY019 Polyneuropathy 52 0.024
820
P LRS001 Larsen Syndrome 52 0.024
821
AMB001 Amebiasis 51 0.024
822
ISL001 Islet Cell Tumor 51 0.024
823
P ATS007 Autism Spectrum Disorder 56 0.024
824
P STC001 Stickler Syndrome 51 0.024
825
NDL013 Nodular Regenerative Hyperplasia 51 0.024
826
NRC020 Neuroectodermal Tumor 51 0.024
827
MGC001 Megacolon 51 0.024
828
c HPT003 Hepatitis a 51 0.024
829
P PSR001 Psoriatic Arthritis 50 0.024
830
P HMP006 Hemiplegic Migraine 50 0.024
831
c CNG021 Congenital Toxoplasmosis 50 0.024
832
LYM115 Lymphoma, Non-Hodgkin 51 0.024
833
P ATT003 Attenuated Familial Adenomatous Polyposis 49 0.024
834
P HYP065 Hyperaldosteronism 49 0.024
835
P BRC006 Brachydactyly 49 0.024
836
LST001 Listeriosis 49 0.024
837
EPD001 Epidermodysplasia Verruciformis 49 0.024
838
LYM040 Lymphoblastic Lymphoma 49 0.024
839
CRY004 Cryoglobulinemia 49 0.024
840
TNS005 Tonsillitis 48 0.024
841
HYP024 Hypoparathyroidism 48 0.024
842
MCR191 Microscopic Colitis 48 0.024
843
PST021 Postpartum Depression 48 0.024
844
P ATR001 Atrioventricular Septal Defect 48 0.024
845
PLS007 Plasmodium Falciparum Malaria 48 0.024
846
P HYP613 Hypophosphatemic Rickets 49 0.024
847
c CHR095 Chronic Progressive External Ophthalmoplegia 48 0.024
848
DND002 Dendritic Cell Sarcoma 48 0.024
849
MRB003 Morbid Obesity 52 0.024
850
MYL003 Myeloid Sarcoma 48 0.024
851
BLS002 Blastomycosis 48 0.024
852
PGT004 Paget Disease, Juvenile 48 0.024
853
c ACT134 Acute Liver Failure 48 0.024
854
P EXD001 Exudative Vitreoretinopathy 48 0.024
855
P PSD015 Pseudohypoparathyroidism 47 0.024
856
RFT001 Rift Valley Fever 47 0.024
857
LGN002 Legionellosis 47 0.024
858
OCL001 Ocular Albinism 47 0.024
859
HPT019 Hepatic Encephalopathy 51 0.024
860
DSM007 Desmoplastic Small Round Cell Tumor 47 0.024
861
HYP099 Hyperferritinemia-Cataract Syndrome 48 0.024
862
LPM005 Lipomatosis 47 0.024
863
c INF023 Inflammatory Breast Carcinoma 47 0.024
864
THY009 Thyroid Lymphoma 46 0.024
865
ACN001 Acinar Cell Carcinoma 46 0.024
866
HST009 Histiocytoma 46 0.024
867
MYL001 Myelitis 46 0.024
868
CYS014 Cystadenocarcinoma 46 0.024
869
SCH016 Schimke Immunoosseous Dysplasia 46 0.024
870
FBR003 Fibrous Histiocytoma 46 0.024
871
GRW007 Growth Hormone Deficiency 46 0.024
872
LPT001 Leptospirosis 46 0.024
873
DYS014 Dyspepsia 45 0.024
874
ANR009 Aneurysmal Bone Cysts 45 0.024
875
P ADM011 Adams-Oliver Syndrome 46 0.024
876
VLL003 Villonodular Synovitis 45 0.024
877
JVN033 Juvenile Nasopharyngeal Angiofibroma 45 0.024
878
P SPN061 Spondyloepiphyseal Dysplasia Tarda 45 0.024
879
ADN020 Adenosarcoma 44 0.024
880
ATR057 Atrioventricular Block 44 0.024
881
CLC006 Calcinosis 44 0.024
882
HMG002 Hemoglobinuria 43 0.024
883
PLV003 Pelvic Inflammatory Disease 43 0.024
884
CND005 Cone Dystrophy 43 0.024
885
ALX002 Alexithymia 43 0.024
886
NRM005 Neuromuscular Disease 43 0.024
887
MCN008 Mucinous Cystadenocarcinoma 43 0.024
888
MNN014 Mononeuritis 43 0.024
889
P VTL001 Vitelliform Macular Dystrophy 42 0.024
890
P ORL007 Oral Cavity Cancer 42 0.024
891
P NGH001 Night Blindness 42 0.024
892
CRD137 Cardiogenic Shock 42 0.024
893
SPN032 Spindle Cell Carcinoma 42 0.024
894
P LYD001 Leydig Cell Tumor 42 0.024
895
TNC002 Tinea Capitis 41 0.024
896
MGR003 Migraine with Aura 41 0.024
897
P EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 41 0.024
898
CHK001 Chikungunya 41 0.024
899
P HMR005 Hemorrhoid 41 0.024
900
P SYN012 Synpolydactyly 41 0.024
901
DND018 Dendritic Cell Tumor 41 0.024
902
HYP231 Hypothalamic Hamartomas 40 0.024
903
CHL004 Cholelithiasis 40 0.024
904
P EPL003 Epulis 40 0.024
905
GLM011 Glomerulosclerosis 40 0.024
906
MMB002 Membranous Glomerulonephritis 40 0.024
907
c GMM003 Gamma Heavy Chain Disease 39 0.024
908
LYM021 Lymphadenitis 39 0.024
909
NRF003 Neurofibrosarcoma 39 0.024
910
MXD032 Mixed Germ Cell Tumor 39 0.024
911
MNN009 Meningoencephalitis 39 0.024
912
MCP006 Mucoepidermoid Carcinoma 39 0.024
913
BNF002 Bone Fracture 39 0.024
914
RNP001 Renpenning Syndrome 38 0.024
915
HPT067 Hepatocellular Adenoma 38 0.024
916
THR035 Thrombasthenia 37 0.024
917
P PLM041 Pulmonary Valve Stenosis 37 0.024
918
DXT001 Dextrocardia 37 0.024
919
SMT002 Smooth Muscle Tumor 37 0.024
920
ADN027 Adenomyosis 37 0.024
921
CRB138 Core Binding Factor Acute Myeloid Leukemia 37 0.024
922
MCK002 Meckel's Diverticulum 36 0.024
923
THY043 Thymic Hyperplasia 36 0.024
924
CRN030 Coronary Stenosis 36 0.024
925
OLG001 Oligospermia 36 0.024
926
HMP009 Haemophilus Influenzae 36 0.024
927
NLX002 Neu-Laxova Syndrome1 36 0.024
928
SML019 Smallpox 36 0.024
929
P INT069 Intestinal Neoplasm 35 0.024
930
AST006 Astigmatism 35 0.024
931
P DBR002 De Barsy Syndrome 35 0.024
932
PLM016 Pleomorphic Carcinoma 35 0.024
933
P RNL017 Renal Oncocytoma 43 0.024
934
INT071 Intestinal Perforation 35 0.024
935
PRS039 Prostate Adenocarcinoma 35 0.024
936
PHC013 Phaeochromocytoma 34 0.024
937
GST040 Gastric Adenocarcinoma 34 0.024
938
RCT011 Rectal Prolapse 34 0.024
939
CHR174 Christianson Syndrome 33 0.024
940
P HVY001 Heavy Chain Disease 33 0.024
941
CRB086 Cerebral Aneurysms 33 0.024
942
THY035 Thyroid Adenoma 33 0.024
943
PRL032 Perlman Syndrome 34 0.024
944
MNN002 Mononeuritis Multiplex 33 0.024
945
ART012 Aortitis 33 0.024
946
SPL006 Splenic Infarction 32 0.024
947
GRF001 Graft-Versus-Host Disease, Protection Against 32 0.024
948
c CHR038 Chronic Maxillary Sinusitis 32 0.024
949
PRS021 Prostatic Adenoma 32 0.024
950
LMB010 Lambert Syndrome 32 0.024
951
FTD001 Foot Drop 31 0.024
952
ENT008 Enteropathy-Associated T-Cell Lymphoma 31 0.024
953
ADN002 Adenoiditis 31 0.024
954
SYS003 Systolic Heart Failure 31 0.024
955
P GLM006 Glomangioma 31 0.024
956
PSL001 Pasli Disease 30 0.024
957
MYB001 Myoblastoma 30 0.024
958
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 30 0.024
959
CVR010 Cavernous Malformation 29 0.024
960
CHR020 Chronic Interstitial Cystitis 30 0.024
961
CCC002 Coccidiosis 28 0.024
962
OST022 Osteopathia Striata with Cranial Sclerosis 29 0.024
963
SPN021 Spinal Meningioma 28 0.024
964
GLL017 Gallbladder Adenocarcinoma 27 0.024
965
SML033 Small Cell Cancer of the Lung, Somatic 27 0.024
966
c ACT115 Acute Myeloid Leukemia, Adult 27 0.024
967
INT052 Intestinal Volvulus 27 0.024
968
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 27 0.024
969
CRT028 Cor Triatriatum 27 0.024
970
BRW003 Brown Induration 26 0.024
971
FBR028 Fibrosing Mediastinitis 25 0.024
972
ENT001 Enterocele 24 0.024
973
DRM005 Dermoid Cyst of Ovary 24 0.024
974
LRY028 Laryngocele 23 0.024
975
BNL002 Bone Lymphoma 21 0.024
976
MMB005 Membranous Glomerulonephritis, Antenatal 21 0.024
977
RFR013 Refractory Celiac Disease 21 0.024
978
ART034 Aortopulmonary Window 21 0.024
979
TBR009 Tuberculous Empyema 20 0.024
980
GRN016 Grant Syndrome 20 0.024
981
EXT048 Extranodal Nasal Nk/t Cell Lymphoma 20 0.024
982
FLL042 Folliculotropic Mycosis Fungoides 19 0.024
983
SBS002 Substernal Goiter 19 0.024
984
URT011 Urethral Calculus 19 0.024
985
OVR017 Ovarian Cystic Teratoma 16 0.024
986
IND005 Indolent B Cell Lymphoma 16 0.024
987
LTH004 Lathyrism 17 0.024
988
CRB135 Cerebro-Oculo-Nasal Syndrome 16 0.024
989
GND006 Gonadal Dysgenesis Xy Type Associated Anomalies 14 0.024
990
CRB023 Cerebellopontine Angle Meningioma 14 0.024
991
PLY046 Polysyndactyly Cardiac Malformation 14 0.024
992
MRF013 Marfanoid Habitus - Intellectual Disability, Autosomal Recessive 12 0.024
993
P DBT085 Diabetes Mellitus, Insulin-Dependent 83 0.019
994
P KRB001 Krabbe Disease 73 0.019
995
P ALG002 Alagille Syndrome 73 0.019
996
DCH001 Duchenne Muscular Dystrophy 78 0.019
997
SCK003 Sickle Cell Anemia 70 0.019
998
NRL016 Neural Tube Defects 78 0.019
999
P SCL016 Scleroderma 76 0.019
1000
P CWD001 Cowden Disease 69 0.019
1001
LSC001 Lesch-Nyhan Syndrome 69 0.019
1002
BHC002 Behcet's Disease 68 0.019
1003
SVR004 Severe Combined Immunodeficiency 68 0.019
1004
VNW001 Von Willebrand's Disease 67 0.019
1005
P STH001 Saethre-Chotzen Syndrome 67 0.019
1006
P ALX003 Alexander Disease 66 0.019
1007
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.019
1008
OVR078 Ovarian Cancer, Somatic 65 0.019
1009
PTR006 Peters Anomaly 65 0.019
1010
ADD001 Addison's Disease 65 0.019
1011
LKC001 Leukocyte Adhesion Deficiency 65 0.019
1012
P CRD013 Cardiofaciocutaneous Syndrome 65 0.019
1013
APR006 Apert Syndrome 66 0.019
1014
CYS008 Cystic Echinococcosis 64 0.019
1015
VNH007 Von Hippel-Lindau Syndrome 65 0.019
1016
P CRT072 Creutzfeldt-Jakob Disease 64 0.019
1017
P MYS003 Myasthenia Gravis 64 0.019
1018
c MCP003 Mucopolysaccharidosis Vii 64 0.019
1019
RLP001 Relapsing Polychondritis 63 0.019
1020
MCK007 Muckle-Wells Syndrome 62 0.019
1021
GLN010 Glanzmann Thrombasthenia 63 0.019
1022
P CNG401 Congenital Heart Disease 62 0.019
1023
P WLM002 Wilms Tumor 70 0.019
1024
STR067 Stroke, Ischemic 65 0.019
1025
NLP001 Nail-Patella Syndrome 61 0.019
1026
P WLF004 Wolfram Syndrome 61 0.019
1027
P NJM001 Nijmegen Breakage Syndrome 61 0.019
1028
HYP042 Hypochondroplasia 61 0.019
1029
P THN009 Thanatophoric Dysplasia, Type I 62 0.019
1030
P HYP055 Hypoplastic Left Heart Syndrome 61 0.019
1031
BLS001 Blau Syndrome 60 0.019
1032
P DYS007 Dyskeratosis Congenita 60 0.019
1033
PLY017 Polyarteritis Nodosa 60 0.019
1034
RBS003 Rabson-Mendenhall Syndrome 60 0.019
1035
c MCP024 Mucopolysaccharidosis Type Vi 60 0.019
1036
c FML058 Familial Dilated Cardiomyopathy 59 0.019
1037
CMP005 Campomelic Dysplasia 59 0.019
1038
PBL001 Piebaldism 59 0.019
1039
P END044 Endometriosis 59 0.019
1040
PST028 Post-Traumatic Stress Disorder 59 0.019
1041
ACN011 Acne 58 0.019
1042
P SMP003 Simpson-Golabi-Behmel Syndrome 58 0.019
1043
P RTH001 Rothmund-Thomson Syndrome 58 0.019
1044
ALS001 Alstrom Syndrome 58 0.019
1045
TRC008 Trachoma 58 0.019
1046
ART021 Arteriosclerosis 58 0.019
1047
CRY005 Cryptococcosis 58 0.019
1048
ERD001 Erdheim-Chester Disease 58 0.019
1049
GSG001 Gas Gangrene 58 0.019
1050
FCT006 Factor V Deficiency 58 0.019
1051
MND007 Mandibuloacral Dysplasia 57 0.019
1052
P SLV001 Silver-Russell Syndrome 57 0.019
1053
ACT049 Acute Disseminated Encephalomyelitis 57 0.019
1054
DBN001 Dubin-Johnson Syndrome 57 0.019
1055
MTC007 Mitochondrial Complex I Deficiency 57 0.019
1056
ALK013 Alkaptonuria 57 0.019
1057
P ERY008 Erythromelalgia 56 0.019
1058
END030 End Stage Renal Failure 56 0.019
1059
MLT135 Multiple Sulfatase Deficiency 57 0.019
1060
P HLT001 Holt-Oram Syndrome 56 0.019
1061
P GLL020 Gallbladder Disease 56 0.019
1062
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 64 0.019
1063
CHR081 Choroideremia 56 0.019
1064
LDD001 Ladd Syndrome 56