Search results for "DES"

1404 hits were found for 'DES'

# Family MCID Name MIFTS Score
1
P CRN015 Cornelia De Lange Syndrome 57 7.744
2
GLL008 Gilles De La Tourette Syndrome 64 5.687
3
c DSR003 Des-Related Dilated Cardiomyopathy 8 5.405
4
KLN006 Koolen-De Vries Syndrome 30 5.359
5
DQR001 De Quervain Disease 13 4.570
6
P DBR002 De Barsy Syndrome 35 4.299
7
MLD004 Mal De Debarquement 19 4.075
8
P MYP004 Myopathy 53 4.034
9
DSN001 De Sanctis-Cacchione Syndrome 23 3.968
10
MLD003 Meleda Disease 29 3.947
11
c ATL002 Atelosteogenesis Ii 26 3.876
12
GRB001 Grubben De Cock Borghgraef Syndrome 15 3.588
13
c CRN209 Cornelia De Lange Syndrome 5 18 3.565
14
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 31 3.548
15
c CRN135 Cornelia De Lange Syndrome 3 17 3.548
16
c CRN215 Cornelia De Lange Syndrome 4 15 3.548
17
P SPN061 Spondyloepiphyseal Dysplasia Tarda 45 3.538
18
P DLT002 Dilated Cardiomyopathy 77 3.445
19
P MYF003 Myofibrillar Myopathy 40 3.417
20
P FNC004 Fanconi Syndrome 44 3.293
21
c MYP072 Myopathy, Myofibrillar, 1 22 3.287
22
c CRN139 Cornelia De Lange Syndrome 1 26 3.218
23
SPT006 Septooptic Dysplasia 36 3.175
24
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 35 3.164
25
IRS006 Iris Dysplasia Hypertelorism Deafness 9 3.164
26
SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 21 3.115
27
P LPS002 Liposarcoma 56 2.815
28
c CRN134 Cornelia De Lange Syndrome 2 17 2.791
29
P CHN012 Chondrosarcoma 56 2.790
30
P GNT008 Giant Cell Tumor 47 2.790
31
STL003 Stoelinga De Koomen Davis Syndrome 4 2.782
32
DGR003 De Grouchy Syndrome 4 2.782
33
GST019 Gastrointestinal Stromal Tumor 74 2.780
34
P LYM007 Lymphangioleiomyomatosis 65 2.780
35
LMY002 Leiomyoma 59 2.780
36
CHR072 Chordoma 54 2.780
37
P MST018 Mesothelioma 51 2.780
38
HST009 Histiocytoma 46 2.780
39
FBR003 Fibrous Histiocytoma 46 2.780
40
ANG018 Angiomyolipoma 43 2.780
41
SMT002 Smooth Muscle Tumor 37 2.780
42
FRN019 Frints De Smet Fabry Fryns Syndrome 2 2.773
43
LPM004 Lipoma 56 2.769
44
P RHB017 Rhabdoid Tumor 54 2.769
45
P LMY004 Leiomyosarcoma 53 2.769
46
P HMN013 Hemangiopericytoma 51 2.769
47
GLM008 Glomus Tumor 51 2.769
48
P INF049 Infantile Myofibromatosis 46 2.769
49
P GRN010 Granular Cell Tumor 45 2.769
50
ADN020 Adenosarcoma 44 2.769
51
FBR019 Fibromatosis 40 2.769
52
FBR054 Fibroma 39 2.769
53
FSC004 Fasciitis 39 2.769
54
P SRT002 Sertoli Cell Tumor 33 2.769
55
TND003 Toni-Debre-Fanconi Syndrome 8 2.764
56
RTC002 Reticular Dysgenesis 46 2.741
57
LNR005 Linear Scleroderma 22 2.470
58
c CRD111 Cardiomyopathy, Dilated, 1i 17 2.421
59
TNF002 Toni-Fanconi Syndrome 9 2.285
60
XLN024 X-Linked Mental Retardation De Silva Type 2 2.265
61
MRP003 Marphanoid Syndrome Type De Silva 1 2.265
62
MST011 Mastroiacovo De Rosa Satta Syndrome 1 2.265
63
WLL008 Willems De Vries Syndrome 1 2.265
64
46X003 46,xx Testicular Disorder of Sex Development 50 2.252
65
CHR211 Chromosome 18p Deletion Syndrome 28 2.252
66
DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 16 2.252
67
c ALD012 Aldh18a1-Related De Barsy Syndrome 14 2.252
68
NNR006 Non-Eruption of Teeth - Maxillary Hypoplasia - Genu Valgum 14 2.252
69
c PYC004 Pycr1-Related De Barsy Syndrome 10 2.252
70
c HDC004 Hdac8-Related Cornelia De Lange Syndrome 6 2.252
71
c NPB001 Nipbl-Related Cornelia De Lange Syndrome 6 2.252
72
c RD2001 Rad21-Related Cornelia De Lange Syndrome 6 2.252
73
c SMC001 Smc1a-Related Cornelia De Lange Syndrome 6 2.252
74
c SMC002 Smc3-Related Cornelia De Lange Syndrome 6 2.252
75
MRF010 Marfanoid Syndrome, De Silva Type 3 2.252
76
TRS019 Torsade-De-Pointes Syndrome with Short Coupling Interval 2 2.252
77
BZX001 Bazex Syndrome 31 2.238
78
FHR001 Fuhrmann Syndrome 28 2.238
79
VRL015 Verloes Van Maldergem Marneffe Syndrome 17 2.238
80
CLF019 Cleft Palate Short Stature Vertebral Anomalies 14 2.238
81
ATR057 Atrioventricular Block 44 2.015
82
DDF001 Dedifferentiated Liposarcoma 41 1.996
83
PYL006 Pyloric Stenosis 41 1.996
84
P MDL005 Medulloblastoma 71 1.985
85
P ALX003 Alexander Disease 66 1.985
86
c FML058 Familial Dilated Cardiomyopathy 59 1.985
87
CVR006 Cavernous Hemangioma 50 1.985
88
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 45 1.985
89
CRT008 Carotid Artery Dissection 40 1.985
90
c MLG067 Malignant Giant Cell Tumor 29 1.985
91
FBR032 Fibromuscular Dysplasia 53 1.973
92
END031 Endometrial Stromal Sarcoma 46 1.973
93
P RST002 Restrictive Cardiomyopathy 45 1.973
94
NNT016 Neonatal Hemochromatosis 41 1.973
95
UTR043 Uterine Sarcoma 39 1.973
96
INT020 Intravenous Leiomyomatosis 31 1.973
97
CNT098 Central Core Disease 62 1.958
98
DRM014 Dermatofibrosarcoma Protuberans 59 1.958
99
EWN003 Ewing Sarcoma 59 1.958
100
ALV010 Alveolar Soft-Part Sarcoma 57 1.958
101
PRP025 Peripheral Primitive Neuroectodermal Tumor 50 1.958
102
P SYR003 Syringoma 48 1.958
103
DSM007 Desmoplastic Small Round Cell Tumor 47 1.958
104
P MSN005 Mesenchymal Chondrosarcoma 45 1.958
105
ADR016 Adrenal Cortical Carcinoma 46 1.958
106
P EMB005 Embryonal Rhabdomyosarcoma 44 1.958
107
DYS032 Dystrophinopathies 43 1.958
108
CRN055 Carney Triad 43 1.958
109
ADN014 Adenomatoid Tumor 43 1.958
110
CHL052 Choledochal Cyst 43 1.958
111
P BNG071 Benign Schwannoma 42 1.958
112
INF058 Inflammatory Myofibroblastic Tumor 42 1.958
113
P PLM030 Pleomorphic Rhabdomyosarcoma 42 1.958
114
EMB007 Embryonal Sarcoma 42 1.958
115
BLD033 Bile Duct Adenoma 41 1.958
116
TNS001 Tenosynovial Giant Cell Tumor 40 1.958
117
P EPL003 Epulis 40 1.958
118
MYX013 Myxofibrosarcoma 40 1.958
119
MLN057 Melanoma of Soft Parts 40 1.958
120
SPN006 Spindle Cell Lipoma 39 1.958
121
PLM068 Pulmonary Vein Stenosis 39 1.958
122
P BTR001 Botryoid Rhabdomyosarcoma 39 1.958
123
BNG041 Benign Metastasizing Leiomyoma 39 1.958
124
P CYS007 Cystic Nephroma 38 1.958
125
HPT006 Hepatic Angiomyolipoma 37 1.958
126
P CLR017 Clear Cell Sarcoma 37 1.958
127
EPT011 Epithelioid Leiomyosarcoma 37 1.958
128
c OVR058 Ovarian Small Cell Carcinoma 36 1.958
129
c CNG004 Congenital Epulis 35 1.958
130
SRC027 Sarcoma, Synovial 36 1.958
131
PLM016 Pleomorphic Carcinoma 35 1.958
132
MTN001 Metanephric Adenoma 35 1.958
133
SRC001 Sarcomatoid Mesothelioma 35 1.958
134
OSS002 Ossifying Fibromyxoid Tumor 35 1.958
135
END043 Endometrial Stromal Tumor 35 1.958
136
CTN012 Cutaneous Leiomyosarcoma 35 1.958
137
PRV003 Perivascular Epithelioid Cell Tumor 34 1.958
138
INF046 Infantile Digital Fibromatosis 33 1.958
139
LYM095 Lymphangiomatosis 32 1.958
140
RTR007 Retroperitoneal Leiomyosarcoma 30 1.958
141
CLL005 Cellular Leiomyoma 30 1.958
142
TST037 Testicular Sex Cord-Stromal Tumor 30 1.958
143
PRC011 Parachordoma 30 1.958
144
GST036 Gastric Leiomyosarcoma 27 1.958
145
MLG018 Malignant Giant Cell Tumor of Soft Parts 26 1.958
146
SPN009 Spindle Cell Rhabdomyosarcoma 24 1.958
147
CYT006 Cytoplasmic Body Myopathy 23 1.958
148
FBR001 Fibrous Meningioma 23 1.958
149
LRG003 Large Cell Medulloblastoma 22 1.958
150
SPN048 Spindle Cell Thymoma 21 1.958
151
RDC010 Reducing Body Myopathy 20 1.958
152
c MSC095 Muscular Dystrophy, Limb-Girdle, Type 2r 18 1.958
153
ENM001 Enamel Caries 17 1.958
154
c INF031 Inflammatory Leiomyosarcoma 11 1.958
155
CLS037 Classic Medulloblastoma 9 1.958
156
OVR041 Ovarian Benign Neoplasm 4 1.958
157
c SBC007 Subacute Thyroiditis 38 1.752
158
P KLL001 Kallmann Syndrome 60 1.616
159
P XRD010 Xeroderma Pigmentosum, Variant Type 45 1.601
160
PRX013 Proximal Chromosome 18q Deletion Syndrome 17 1.601
161
SYM014 Symbrachydactyly of Hands and Feet 11 1.601
162
ULN014 Ulnar Hemimelia 11 1.601
163
CFF003 Caffey Disease 45 1.582
164
NXS001 Naxos Disease 42 1.582
165
AMY087 Amyloidosis, Hereditary, Transthyretin-Related 33 1.582
166
IVC001 Ivic Syndrome 26 1.582
167
c SPN265 Spinocerebellar Ataxia 36 26 1.582
168
SPR031 Sprengel Deformity 21 1.582
169
NRS006 Norse 17 1.582
170
GLT018 Glut1 Deficiency Syndrome 1 17 1.582
171
c PRM200 Primary Fanconi Syndrome 17 1.582
172
ULN008 Ulnar Hypoplasia Lobster Claw Deformity of Feet 13 1.582
173
OCL057 Oculotrichodysplasia 13 1.582
174
3Q2004 3q26 Microduplication Syndrome 7 1.582
175
HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 4 1.582
176
SHR014 Short Stature Contractures Hypotonia 2 1.582
177
c ATS136 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 15 1.385
178
ATS235 Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Desmin Deficiency 8 1.385
179
P LKM002 Leukemia 66 0.315
180
P MYL006 Myeloid Leukemia 64 0.238
181
P MNT147 Mental Retardation 46 0.169
182
P SCL016 Scleroderma 76 0.165
183
HPT023 Hepatocellular Carcinoma 95 0.159
184
P HPT021 Hepatitis 55 0.159
185
P THY032 Thyroiditis 56 0.154
186
P LNG028 Long Qt Syndrome 62 0.141
187
MYL009 Myelodysplastic Syndrome 67 0.126
188
P BCL006 B-Cell Lymphomas 47 0.126
189
P MCR010 Microcephaly 49 0.121
190
END072 Endotheliitis 44 0.119
191
SPR010 Sporotrichosis 43 0.119
192
PRS047 Prostatitis 51 0.117
193
DFF005 Diffuse Large B-Cell Lymphoma 50 0.115
194
P BRS047 Breast Cancer 90 0.112
195
P GLM007 Glomerulonephritis 59 0.112
196
P ADN016 Adenocarcinoma 49 0.112
197
CRB009 Cerebritis 33 0.112
198
P NRP001 Neuropathy 52 0.100
199
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 38 0.100
200
P DYS154 Dystonia 55 0.097
201
SRC014 Sarcoma 61 0.095
202
P ATX004 Ataxia 50 0.095
203
P MSC005 Muscular Dystrophy 54 0.092
204
P MLT074 Multiple Endocrine Neoplasia 53 0.092
205
c ATM011 Autoimmune Hepatitis 51 0.092
206
EPD016 Epidermolysis Bullosa 49 0.092
207
NRN002 Neuronitis 36 0.092
208
P GLB002 Glioblastoma 59 0.089
209
ANR040 Aneurysm 35 0.089
210
HYP005 Hypokalemia 42 0.086
211
CVR010 Cavernous Malformation 29 0.086
212
ADN018 Adenoma 55 0.083
213
P CRV039 Cervicitis 49 0.083
214
MMB002 Membranous Glomerulonephritis 40 0.083
215
P TRC086 Trichohepatoenteric Syndrome 1 39 0.083
216
P HYP265 Hypotonia 34 0.083
217
P SCH015 Schizophrenia 79 0.079
218
c ACT073 Acute Leukemia 48 0.079
219
RTN023 Retinitis 44 0.079
220
P MYC007 Myocardial Infarction 81 0.076
221
P ANG001 Angelman Syndrome 66 0.076
222
c HPT016 Hepatitis B 60 0.076
223
P CHR071 Charcot-Marie-Tooth Disease 60 0.076
224
c HPT001 Hepatitis C 57 0.076
225
FLL037 Follicular Lymphoma 50 0.076
226
TTH006 Tooth Disease 46 0.076
227
KRT012 Keratoderma 39 0.076
228
P LNG032 Lung Cancer 94 0.073
229
P PRS040 Prostate Cancer 84 0.073
230
OBS002 Obsessive-Compulsive Disorder 69 0.073
231
P HYP069 Hyperparathyroidism 57 0.073
232
ZLL002 Zollinger-Ellison Syndrome 57 0.073
233
P CTR002 Cataract 50 0.073
234
ECT006 Ectodermal Dysplasia 48 0.073
235
CLR003 Clear Cell Adenocarcinoma 44 0.073
236
P LPR003 Leprosy 71 0.069
237
P RBN001 Rubinstein-Taybi Syndrome 67 0.069
238
P HLP001 Holoprosencephaly 65 0.069
239
P ART022 Arthritis 65 0.069
240
P PNM007 Pneumonia 64 0.069
241
MGR002 Migraine 64 0.069
242
ANR002 Aniridia 61 0.069
243
P LYM026 Lymphoblastic Leukemia 55 0.069
244
MLN008 Melanoma 55 0.069
245
P ATS007 Autism Spectrum Disorder 56 0.069
246
P INT030 Intracranial Aneurysm 48 0.069
247
THR013 Thoracic Outlet Syndrome 45 0.069
248
PRT039 Proteinuria 43 0.069
249
SPS057 Spasticity 32 0.069
250
LSC001 Lesch-Nyhan Syndrome 69 0.065
251
LSH001 Leishmaniasis 63 0.065
252
P PNC044 Pancreatitis 59 0.065
253
GST092 Gastroesophageal Reflux 60 0.065
254
P HYP061 Hypertrophic Cardiomyopathy 59 0.065
255
P KDN018 Kidney Disease 57 0.065
256
LRN003 Learning Disability 53 0.065
257
P HMP006 Hemiplegic Migraine 50 0.065
258
P MYC008 Myocarditis 50 0.065
259
WLF002 Wolf-Hirschhorn Syndrome 49 0.065
260
c CHR285 Chronic Myelomonocytic Leukemia 48 0.065
261
P BLN003 Blindness 47 0.065
262
P VSC005 Vesicoureteral Reflux 46 0.065
263
P DRR001 Diarrhea 44 0.065
264
P PTS002 Ptosis 39 0.065
265
CYT019 Cytogenetically Normal Acute Myeloid Leukemia 25 0.065
266
P INT105 Intellectual Disability Multi-Gene Panels 15 0.065
267
P OBS005 Obesity 94 0.061
268
P RHM011 Rheumatoid Arthritis 94 0.061
269
P RTT002 Rett Syndrome 73 0.061
270
AND015 Androgen Insensitivity 69 0.061
271
P THL005 Thalassemia 64 0.061
272
P PRM019 Premature Ovarian Failure 63 0.061
273
PRT036 Peritonitis 61 0.061
274
P CRN037 Craniosynostosis 60 0.061
275
P RCK004 Rickets 58 0.061
276
P CNG015 Congenital Diaphragmatic Hernia 56 0.061
277
P THR014 Thrombocytopenia 56 0.061
278
MNT001 Mantle Cell Lymphoma 55 0.061
279
P ESP024 Esophagitis 54 0.061
280
ART005 Arteriovenous Malformation 53 0.061
281
P HMR012 Hemorrhagic Fever 52 0.061
282
DWR001 Dwarfism 48 0.061
283
LPT001 Leptospirosis 46 0.061
284
CRN030 Coronary Stenosis 36 0.061
285
HMT018 Hematopoietic Stem Cell Transplantation 36 0.061
286
ADR007 Adrenoleukodystrophy 76 0.056
287
P RNL014 Renal Cell Carcinoma 83 0.056
288
c AMY091 Amyotrophic Lateral Sclerosis 1 82 0.056
289
TBR010 Tuberculosis 73 0.056
290
P NRB001 Neuroblastoma 68 0.056
291
P WLM002 Wilms Tumor 70 0.056
292
P LVR013 Liver Disease 62 0.056
293
P HYP086 Hypothyroidism 59 0.056
294
P NTR004 Neutropenia 56 0.056
295
ACN002 Acanthosis Nigricans 55 0.056
296
P HYP040 Hypospadias 54 0.056
297
MYC002 Mycobacterium Avium Complex Disease 51 0.056
298
CLF001 Cleft Lip 51 0.056
299
c LCL006 Localized Scleroderma 51 0.056
300
VGN023 Vaginitis 51 0.056
301
HYP266 Hypoxia 49 0.056
302
P SPR013 Spiradenoma 47 0.056
303
ACQ007 Acquired Immunodeficiency Syndrome 46 0.056
304
P GND004 Gonadal Dysgenesis 43 0.056
305
c CHR536 Charcot-Marie-Tooth Disease, Type 1a 43 0.056
306
GRM004 Germinoma 41 0.056
307
TCD001 Tic Disorder 41 0.056
308
CHN005 Choanal Atresia 39 0.056
309
SYN036 Syncope 37 0.056
310
CLF027 Cleft Palate, Isolated 36 0.056
311
SPL040 Split Hand 35 0.056
312
P ATX010 Ataxia Neuropathy Spectrum 29 0.056
313
FCL003 Facial Hemiatrophy 25 0.056
314
AND005 Androgen Insensitivity Syndrome, Mild 17 0.056
315
P DMN011 Dominant Dystrophic Epidermolysis Bullosa 15 0.056
316
MRF001 Marfan Syndrome 75 0.051
317
MLR004 Malaria 81 0.051
318
P NRF002 Neurofibromatosis 69 0.051
319
P PRM002 Primary Hyperoxaluria 68 0.051
320
PTZ001 Peutz-Jeghers Syndrome 68 0.051
321
ATS001 Autistic Disorder 61 0.051
322
P TRN020 Turner Syndrome 58 0.051
323
c PRM005 Primary Hyperparathyroidism 58 0.051
324
INS024 Insulin-Like Growth Factor I 58 0.051
325
P HYD006 Hydrocephalus 56 0.051
326
STT001 Status Epilepticus 56 0.051
327
P SZR006 Seizure Disorder 56 0.051
328
P HRD011 Hereditary Spherocytosis 56 0.051
329
WST001 West Syndrome 54 0.051
330
CLB001 Coloboma 54 0.051
331
P ACR001 Aicardi-Goutieres Syndrome 54 0.051
332
HYD012 Hydrops Fetalis 53 0.051
333
P MYL007 Myeloma 53 0.051
334
P CNJ013 Conjunctivitis 53 0.051
335
c HPT073 Hepatitis C Virus 51 0.051
336
CRD002 Cri-Du-Chat Syndrome 50 0.051
337
RHB003 Rhabdomyosarcoma 49 0.051
338
P PLY006 Polydactyly 48 0.051
339
DJR004 Dejerine-Sottas Disease 49 0.051
340
c SPN225 Spondyloarthropathy 1 48 0.051
341
SNS001 Sensorineural Hearing Loss 48 0.051
342
CHR008 Choroiditis 45 0.051
343
SPT005 Spotted Fever 45 0.051
344
CRB045 Cerebellar Hypoplasia 44 0.051
345
HMP005 Hemiplegia 44 0.051
346
P STR020 Strabismus 44 0.051
347
P MYP006 Myopia 41 0.051
348
GLM011 Glomerulosclerosis 40 0.051
349
c ART101 Aortic Valve Disease 2 32 0.051
350
ECH002 Echolalia 21 0.051
351
c RNG019 Ring Chromosome 3 14 0.051
352
P CLR023 Colorectal Cancer 96 0.046
353
P PHC003 Pheochromocytoma 79 0.046
354
P ATX030 Ataxia-Telangiectasia 76 0.046
355
HV1006 Hiv-1 83 0.046
356
DCH001 Duchenne Muscular Dystrophy 78 0.046
357
P MYL005 Myelofibrosis 68 0.046
358
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.046
359
P AMY004 Amyloidosis 63 0.046
360
P AST007 Astrocytoma 63 0.046
361
P CNG401 Congenital Heart Disease 62 0.046
362
ANR007 Anorexia Nervosa 62 0.046
363
P RSP003 Respiratory Failure 62 0.046
364
P BCK002 Beckwith-Wiedemann Syndrome 61 0.046
365
CMP005 Campomelic Dysplasia 59 0.046
366
DRM006 Dermatitis 58 0.046
367
VSC011 Vasculitis 57 0.046
368
CRY002 Cryptorchidism 57 0.046
369
P HML002 Hemolytic Anemia 56 0.046
370
ATH003 Atherosclerosis 56 0.046
371
ULC004 Ulcerative Colitis 63 0.046
372
P CRB042 Cerebellar Ataxia 54 0.046
373
CLT003 Colitis 54 0.046
374
EYD002 Eye Disease 54 0.046
375
P EPD003 Epidermolysis Bullosa Simplex 53 0.046
376
P SPN049 Spinocerebellar Ataxia 53 0.046
377
KRN002 Kearns-Sayre Syndrome 52 0.046
378
MCR013 Microphthalmia 52 0.046
379
BRN002 Bronchiolitis 52 0.046
380
DWN001 Down Syndrome 51 0.046
381
BRN012 Bronchiolitis Obliterans 50 0.046
382
YLL002 Yellow Fever 50 0.046
383
P TRT010 Teratoma 50 0.046
384
P CTS001 Cutis Laxa 50 0.046
385
P AXN010 Axenfeld-Rieger Syndrome, Type 3 50 0.046
386
LPD010 Lipodystrophy 49 0.046
387
P HYP065 Hyperaldosteronism 49 0.046
388
CTN007 Cutaneous Leishmaniasis 57 0.046
389
P HYP613 Hypophosphatemic Rickets 49 0.046
390
APP008 Appendicitis 48 0.046
391
DDN006 Duodenitis 48 0.046
392
LGN002 Legionellosis 47 0.046
393
P HYP060 Hyperinsulinism 47 0.046
394
ORL011 Oral Cancer 47 0.046
395
RNL078 Renal Dysplasia 46 0.046
396
P INF032 Infertility 46 0.046
397
GRW007 Growth Hormone Deficiency 46 0.046
398
P LYM025 Lymphedema 45 0.046
399
c SVR003 Severe Congenital Neutropenia 44 0.046
400
P EPL002 Epilepsy Syndrome 44 0.046
401
P SCL018 Scoliosis 45 0.046
402
P DYS021 Dysautonomia 44 0.046
403
P INF016 Infantile Epileptic Encephalopathy 43 0.046
404
CLN015 Colon Adenocarcinoma 43 0.046
405
ALX002 Alexithymia 43 0.046
406
P SYN001 Syndactyly 43 0.046
407
EBL001 Ebola Hemorrhagic Fever 40 0.046
408
FRN002 Frontal Lobe Epilepsy 39 0.046
409
CYT008 Cytomegalovirus Infection 39 0.046
410
MYC033 Myoclonus 39 0.046
411
DYS018 Dysostosis 38 0.046
412
c ACT004 Acute Diarrhea 37 0.046
413
PRL017 Prolymphocytic Leukemia 36 0.046
414
BLP004 Blepharophimosis 33 0.046
415
SML028 Semilobar Holoprosencephaly 33 0.046
416
CHL061 Childhood Leukemia 31 0.046
417
c RNG023 Ring Chromosome 7 31 0.046
418
c HRD088 Hereditary Neuropathies 29 0.046
419
SPR083 Sporadic Hemiplegic Migraine 26 0.046
420
c BNG076 Benign Exophthalmos Syndrome 19 0.046
421
SYN057 Syndromic Intellectual Disability 17 0.046
422
TRC056 Trichomegaly, Cataract, and Hereditary Spherocytosis 16 0.046
423
CYS001 Cystic Fibrosis 92 0.040
424
HDG012 Hodgkin Lymphoma 79 0.040
425
FBR012 Fabry Disease 76 0.040
426
c MLT019 Multiple Myeloma 75 0.040
427
P RTN024 Retinoblastoma 75 0.040
428
SMT004 Smith-Lemli-Opitz Syndrome 74 0.040
429
CDS001 Cadasil 73 0.040
430
P OST002 Osteoporosis 71 0.040
431
P CLD001 Cleidocranial Dysplasia 70 0.040
432
P WSK001 Wiskott-Aldrich Syndrome 69 0.040
433
LVR012 Liver Cirrhosis 66 0.040
434
CRH001 Crohn's Disease 71 0.040
435
WLF001 Wolff-Parkinson-White Syndrome 65 0.040
436
SKN016 Skin Disease 64 0.040
437
c NRF018 Neurofibromatosis, Type 1 65 0.040
438
P DRV001 Dravet Syndrome 64 0.040
439
THY028 Thyroid Cancer 63 0.040
440
P HMN010 Hemangioma 60 0.040
441
SCH014 Schistosomiasis 60 0.040
442
BLS001 Blau Syndrome 60 0.040
443
P ALP004 Alport Syndrome 60 0.040
444
P INF038 Influenza 67 0.040
445
CRB039 Cerebrovascular Disease 59 0.040
446
P HMP007 Hemophilia 59 0.040
447
DMN002 Dementia 58 0.040
448
P FCL005 Focal Segmental Glomerulosclerosis 58 0.040
449
P LBR001 Leber Congenital Amaurosis 58 0.040
450
P DST002 Distal Arthrogryposis 58 0.040
451
LGG001 Legg-Calve-Perthes Disease 58 0.040
452
P HYP004 Hypercalcemia 57 0.040
453
P PRP029 Porphyria 57 0.040
454
P UVT001 Uveitis 57 0.040
455
PRC002 Paracoccidioidomycosis 56 0.040
456
P ENC004 Encephalitis 56 0.040
457
P LRY019 Laryngitis 56 0.040
458
BRN028 Brain Cancer 56 0.040
459
PPL022 Papilloma 55 0.040
460
SMT008 Smith-Magenis Syndrome 56 0.040
461
c LNG044 Long Qt Syndrome 1 55 0.040
462
VCT001 Vacterl Association 55 0.040
463
P NRN021 Neuronal Ceroid Lipofuscinosis 55 0.040
464
ACR008 Acrocallosal Syndrome 55 0.040
465
P ALT001 Alternating Hemiplegia of Childhood 54 0.040
466
P CND004 Candidiasis 54 0.040
467
CHG001 Chagas Disease 54 0.040
468
JCB001 Jacobsen Syndrome 53 0.040
469
P AND016 Andersen Syndrome 54 0.040
470
PSY004 Psychotic Disorder 53 0.040
471
P DBT005 Diabetes Insipidus 53 0.040
472
P ANG015 Angioedema 51 0.040
473
P MYM002 Moyamoya Disease 51 0.040
474
ALP008 Alopecia 51 0.040
475
CTS003 Coats Disease 51 0.040
476
GLB015 Glioblastoma Multiforme 51 0.040
477
HDC001 Headache 50 0.040
478
CLL003 Cellulitis 50 0.040
479
P BRC006 Brachydactyly 49 0.040
480
ART001 Arterial Tortuosity Syndrome 48 0.040
481
MLG077 Malignant Peripheral Nerve Sheath Tumor 48 0.040
482
MCR004 Macroglobulinemia 48 0.040
483
MYL003 Myeloid Sarcoma 48 0.040
484
CHR031 Chromoblastomycosis 48 0.040
485
P LSS002 Lissencephaly 47 0.040
486
P VNT002 Ventricular Septal Defect 47 0.040
487
HYP077 Hypertrichosis 47 0.040
488
MTN003 Motion Sickness 47 0.040
489
KLN001 Klinefelter's Syndrome 47 0.040
490
LYS001 Loeys-Dietz Syndrome 47 0.040
491
P FBR031 Febrile Seizures 47 0.040
492
DPH001 Diphtheria 47 0.040
493
P ESN008 Eosinophilic Pneumonia 46 0.040
494
SCH016 Schimke Immunoosseous Dysplasia 46 0.040
495
c CNT075 Central Precocious Puberty 46 0.040
496
P CHL066 Cholangitis 45 0.040
497
IMP002 Imperforate Anus 44 0.040
498
PRP023 Peripheral Neuropathy 44 0.040
499
CTY001 Cat Eye Syndrome 43 0.040
500
P TCL004 T-Cell Leukemia 43 0.040
501
SYN005 Synostosis 43 0.040
502
OMP004 Omphalocele 43 0.040
503
MCR020 Microsporidiosis 42 0.040
504
PRP036 Peripheral T-Cell Lymphoma 42 0.040
505
MMB001 Membranoproliferative Glomerulonephritis 42 0.040
506
P SCL009 Sclerosing Cholangitis 41 0.040
507
PRP016 Paraplegia 40 0.040
508
P ART084 Arteriovenous Fistula 40 0.040
509
BLT006 Bilateral Breast Cancer 40 0.040
510
c CHR037 Chronic Eosinophilic Pneumonia 40 0.040
511
MTS001 Mutism 40 0.040
512
CRV045 Cervical Intraepithelial Neoplasia 39 0.040
513
TND005 Tendinitis 38 0.040
514
HTS001 Hiatus Hernia 38 0.040
515
EPS026 Epispadias 37 0.040
516
P TRS004 Torsion Dystonia 37 0.040
517
TTR016 Tetra-Amelia Syndrome 36 0.040
518
CRS001 Crescentic Glomerulonephritis 35 0.040
519
P VGN017 Vaginal Cancer 35 0.040
520
APH002 Aphasia 35 0.040
521
SPS019 Spastic Paraparesis 35 0.040
522
KBG001 Kbg Syndrome 35 0.040
523
P END046 Endometritis 34 0.040
524
SPL039 Split Foot 33 0.040
525
P MYC068 Myoclonic Epilepsy of Infancy 33 0.040
526
HNS001 Hansen's Disease 31 0.040
527
15Q001 15q13.3 Microdeletion 28 0.040
528
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 28 0.040
529
c LNG092 Long Qt Syndrome-3 29 0.040
530
P SLP003 Salpingitis 27 0.040
531
TNG001 Tungiasis 24 0.040
532
HRT011 Heart Septal Defect 23 0.040
533
CHR056 Chronic Tic Disorder 21 0.040
534
NNS031 Non-Syndromic Intellectual Disability 10 0.040
535
c SYS001 Systemic Lupus Erythematosus 91 0.032
536
P LFR001 Li-Fraumeni Syndrome 81 0.032
537
P PLM037 Pulmonary Hypertension 85 0.032
538
P OST005 Osteogenesis Imperfecta 77 0.032
539
P HRD008 Hereditary Hemorrhagic Telangiectasia 75 0.032
540
P RTN008 Retinitis Pigmentosa 72 0.032
541
c HMP004 Hemophilia B 72 0.032
542
SCK003 Sickle Cell Anemia 70 0.032
543
NRL016 Neural Tube Defects 78 0.032
544
P GCH001 Gaucher's Disease 70 0.032
545
ACH004 Achondroplasia 68 0.032
546
P LPS004 Lupus Erythematosus 67 0.032
547
TTR001 Tetralogy of Fallot 67 0.032
548
VNW001 Von Willebrand's Disease 67 0.032
549
P CNG368 Congenital Adrenal Hyperplasia 66 0.032
550
P LYN001 Lynch Syndrome 66 0.032
551
P NNN008 Noonan Syndrome 1 66 0.032
552
LKC001 Leukocyte Adhesion Deficiency 65 0.032
553
MNK001 Menkes Disease 65 0.032
554
APR006 Apert Syndrome 66 0.032
555
CHR012 Chronic Granulomatous Disease 64 0.032
556
P PRD006 Prader-Willi Syndrome 64 0.032
557
ORN006 Ornithine Transcarbamylase Deficiency 64 0.032
558
c MCL042 Macular Degeneration, Age-Related, 1 72 0.032
559
ATT013 Attention Deficit-Hyperactivity Disorder 63 0.032
560
P TMP003 Temporal Arteritis 62 0.032
561
FBR011 Fibrodysplasia Ossificans Progressiva 61 0.032
562
PRG004 Progeria 61 0.032
563
P HYP055 Hypoplastic Left Heart Syndrome 61 0.032
564
ANX002 Anxiety Disorder 60 0.032
565
KRT004 Keratitis 60 0.032
566
CHL065 Cholangiocarcinoma 59 0.032
567
P PRD008 Periodontitis 59 0.032
568
c JVN010 Juvenile Rheumatoid Arthritis 59 0.032
569
P END044 Endometriosis 59 0.032
570
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 58 0.032
571
P HRP006 Herpes Simplex 63 0.032
572
P MYT002 Myotonic Dystrophy 57 0.032
573
P SLV001 Silver-Russell Syndrome 57 0.032
574
c ATM010 Autoimmune Hemolytic Anemia 57 0.032
575
P SPN046 Spinal Muscular Atrophy 57 0.032
576
MTC007 Mitochondrial Complex I Deficiency 57 0.032
577
CYS010 Cystinosis 57 0.032
578
P TXP001 Toxoplasmosis 56 0.032
579
END030 End Stage Renal Failure 56 0.032
580
c ALM001 Al Amyloidosis 56 0.032
581
P HLT001 Holt-Oram Syndrome 56 0.032
582
CHR081 Choroideremia 56 0.032
583
OTT002 Otitis Media 56 0.032
584
CHL014 Cholera 56 0.032
585
P EHL001 Ehlers-Danlos Syndrome 56 0.032
586
P ANT006 Antiphospholipid Syndrome 55 0.032
587
P EPN002 Ependymoma 55 0.032
588
P PCH001 Pachyonychia Congenita 54 0.032
589
BBS001 Babesiosis 54 0.032
590
TRN018 Transitional Cell Carcinoma 54 0.032
591
c HRD010 Hereditary Spastic Paraplegia 62 0.032
592
P ACT117 Acute Myelomonocytic Leukemia 54 0.032
593
BCK001 Becker Muscular Dystrophy 61 0.032
594
P PRC019 Precocious Puberty 53 0.032
595
P ANP001 Anaplastic Large Cell Lymphoma 53 0.032
596
TYP007 Typhoid Fever 53 0.032
597
HYP056 Hypoglycemia 53 0.032
598
P PLY014 Polycystic Kidney Disease 53 0.032
599
RBR001 Roberts Syndrome 53 0.032
600
PLM014 Pleomorphic Adenoma 53 0.032
601
P CFF001 Coffin-Siris Syndrome 53 0.032
602
P TYR004 Tyrosinemia 53 0.032
603
P DDN001 Duodenal Ulcer 53 0.032
604
HYP066 Hyperglycemia 52 0.032
605
DSS009 Disseminated Intravascular Coagulation 52 0.032
606
SHP002 Shprintzen-Goldberg Syndrome 52 0.032
607
P LDD002 Liddle Syndrome 52 0.032
608
ART031 Aortic Coarctation 52 0.032
609
SRT004 Serotonin Syndrome 52 0.032
610
P PLY019 Polyneuropathy 52 0.032
611
P HYP080 Hypogonadism 51 0.032
612
P GLY013 Glycogen Storage Disease 51 0.032
613
SCR002 Scurvy 51 0.032
614
NDL013 Nodular Regenerative Hyperplasia 51 0.032
615
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 51 0.032
616
VSC003 Visceral Leishmaniasis 50 0.032
617
MLL005 Miller-Dieker Syndrome 50 0.032
618
PRL009 Prolactinoma 50 0.032
619
BRJ001 Borjeson-Forssman-Lehmann Syndrome 50 0.032
620
P SCK002 Sick Sinus Syndrome 50 0.032
621
NRN004 Neuroendocrine Tumor 50 0.032
622
INT054 Intraocular Lymphoma 50 0.032
623
NRN001 Neuroendocrine Carcinoma 50 0.032
624
c ACT009 Acute Monocytic Leukemia 50 0.032
625
c CNG021 Congenital Toxoplasmosis 50 0.032
626
P OCL013 Oculodentodigital Dysplasia 49 0.032
627
TTH002 Tooth Agenesis 49 0.032
628
SLP001 Sleeping Sickness 49 0.032
629
P NML001 Nemaline Myopathy 49 0.032
630
P MNC007 Monocytic Leukemia 49 0.032
631
BLM002 Bulimia Nervosa 49 0.032
632
LYM040 Lymphoblastic Lymphoma 49 0.032
633
HYP024 Hypoparathyroidism 48 0.032
634
PST021 Postpartum Depression 48 0.032
635
RNL007 Renal Tubular Acidosis 48 0.032
636
P SYP003 Syphilis 48 0.032
637
c FML023 Familial Hemiplegic Migraine 48 0.032
638
CMP034 Complete Androgen Insensitivity Syndrome 48 0.032
639
ANK001 Ankylosis 48 0.032
640
URT001 Urethritis 48 0.032
641
RFT001 Rift Valley Fever 47 0.032
642
c RCS002 Recessive Dystrophic Epidermolysis Bullosa 47 0.032
643
TRD006 Tardive Dyskinesia 47 0.032
644
P HYP014 Hyperuricemia 47 0.032
645
PRT018 Portal Vein Thrombosis 47 0.032
646
OCL006 Ocular Hypertension 47 0.032
647
P HYP083 Hypopituitarism 47 0.032
648
NPH051 Nephritis 46 0.032
649
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 46 0.032
650
PRM163 Primary Mediastinal Large B-Cell Lymphoma 46 0.032
651
CNS004 Constipation 45 0.032
652
PLY013 Polymyalgia Rheumatica 45 0.032
653
DFF019 Diffuse Gastric Cancer 45 0.032
654
IMP005 Impotence 45 0.032
655
P CRV043 Cervical Dystonia 45 0.032
656
PRN009 Paranoid Schizophrenia 45 0.032
657
DRG011 Drug Addiction 45 0.032
658
OST011 Osteomalacia 45 0.032
659
ISL003 Isolated Growth Hormone Deficiency 45 0.032
660
P MSC003 Muscular Atrophy 44 0.032
661
SFT003 Soft Tissue Sarcoma 44 0.032
662
HMG002 Hemoglobinuria 43 0.032
663
PYD002 Pyoderma 43 0.032
664
RSC001 Rosacea 43 0.032
665
P LTR001 Lateral Sclerosis 43 0.032
666
P HML001 Hemolytic-Uremic Syndrome 43 0.032
667
CRN020 Coronary Restenosis 42 0.032
668
RFR010 Refractory Anemia 42 0.032
669
P ENC011 Encephalomyopathy 42 0.032
670
DRY001 Dry Eye Syndrome 42 0.032
671
P LCT001 Lactic Acidosis 42 0.032
672
GNG002 Ganglioneuroma 42 0.032
673
SBS003 Substance Abuse 41 0.032
674
AZS001 Azoospermia 41 0.032
675
c FML156 Familial Hyperaldosteronism 41 0.032
676
CHK001 Chikungunya 41 0.032
677
SCR024 Sacrococcygeal Teratoma 40 0.032
678
XLN005 X-Linked Hyper Igm Syndrome 39 0.032
679
MDS022 Mediastinitis 39 0.032
680
FTT001 Fatty Liver Disease 39 0.032
681
P SPN052 Spondyloarthropathy 39 0.032
682
P INF037 Inflammatory Bowel Disease 39 0.032
683
P PRL003 Proliferative Glomerulonephritis 39 0.032
684
c LRG014 Large Cell Neuroendocrine Carcinoma 39 0.032
685
AGN013 Agenesis of the Corpus Callosum 38 0.032
686
HRS011 Horseshoe Kidney 38 0.032
687
P PNT019 Pontocerebellar Hypoplasia 38 0.032
688
ILS001 Ileus 38 0.032
689
P CYS017 Cystic Teratoma 38 0.032
690
BRS090 Breast Reconstruction 38 0.032
691
CRT015 Carotid Artery Occlusion 37 0.032
692
DXT001 Dextrocardia 37 0.032
693
c CHR417 Chronic Graft Versus Host Disease 37 0.032
694
c AFB002 Afibrinogenemia, Congenital 38 0.032
695
IMP006 Impulse Control Disorder 36 0.032
696
MCK002 Meckel's Diverticulum 36 0.032
697
ECT005 Ectropion 36 0.032
698
P RSM001 Rasmussen Encephalitis 36 0.032
699
SML019 Smallpox 36 0.032
700
MYC017 Mycobacterium Kansasii 35 0.032
701
PRS045 Prostatic Hypertrophy 35 0.032
702
ANN005 Annular Pancreas 35 0.032
703
PHC013 Phaeochromocytoma 34 0.032
704
ANG046 Angioimmunoblastic T-Cell Lymphoma 34 0.032
705
P MNN007 Meningocele 34 0.032
706
RCT011 Rectal Prolapse 34 0.032
707
c NNS007 Nonsyndromic Deafness 34 0.032
708
CRB086 Cerebral Aneurysms 33 0.032
709
DVL002 Developmental Disabilities 33 0.032
710
c SCP001 Sc Phocomelia Syndrome 33 0.032
711
TTH001 Tooth Ankylosis 33 0.032
712
c CRN236 Corneal Dystrophy, Lattice Type I 33 0.032
713
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 34 0.032
714
P MTC004 Mitochondrial Encephalomyopathy 32 0.032
715
TND004 Tendinopathy 32 0.032
716
AND001 Anodontia 32 0.032
717
c LNG047 Long Qt Syndrome 2 32 0.032
718
P BRT040 Baraitser-Winter Syndrome 31 0.032
719
HYP101 Hyperinsulinism-Hyperammonemia Syndrome 31 0.032
720
22Q001 22q11.2 Duplication 31 0.032
721
P PLY024 Polymicrogyria 31 0.032
722
XRP001 Xerophthalmia 31 0.032
723
MYS004 Myiasis 31 0.032
724
HYP264 Hypertonia 30 0.032
725
MVM001 Movement Disease 30 0.032
726
GRD006 Geroderma Osteodysplastica 30 0.032
727
PLM074 Pulmonary Function 30 0.032
728
MST002 Mast-Cell Leukemia 30 0.032
729
ADS002 Adie Syndrome 30 0.032
730
CLR109 Colorectal Adenocarcinoma 29 0.032
731
RCH001 Richter's Syndrome 29 0.032
732
DRF001 Dirofilariasis 28 0.032
733
BHR002 Bohring-Opitz Syndrome 28 0.032
734
INT052 Intestinal Volvulus 27 0.032
735
UND005 Undifferentiated Pleomorphic Sarcoma 28 0.032
736
TFT003 Tufting Enteropathy 26 0.032
737
P ATL001 Atelosteogenesis 26 0.032
738
P PHC014 Phocomelia 25 0.032
739
ECS001 Eec Syndrome 25 0.032
740
c RNG022 Ring Chromosome 6 25 0.032
741
HNM002 Hinman Syndrome 26 0.032
742
c ART115 Aortic Valve Disease 1 25 0.032
743
PLC009 Placenta Praevia 24 0.032
744
ENT001 Enterocele 24 0.032
745
c HYP163 Hyperlipidemia Type 3 23 0.032
746
c LNG050 Long Qt Syndrome 5 23 0.032
747
END016 Endocervicitis 23 0.032
748
DDN009 Duodenal Obstruction 22 0.032
749
c RNG016 Ring Chromosome 20 21 0.032
750
WDM004 Wiedemann-Steiner Syndrome 21 0.032
751
CPG001 Capgras Syndrome 21 0.032
752
c LNG051 Long Qt Syndrome 6 21 0.032
753
c RNG013 Ring Chromosome 18 21 0.032
754
ART034 Aortopulmonary Window 21 0.032
755
MYL048 Myelodysplasia and Leukemia Syndrome with Monosomy 7 20 0.032
756
BFD003 Bifid Uvula 20 0.032
757
c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 19 0.032
758
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 18 0.032
759
SML025 Small Non-Cleaved Cell Lymphoma 17 0.032
760
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 17 0.032
761
CLR033 Color Vision Deficiency 18 0.032
762
c LNG056 Long Qt Syndrome 12 16 0.032
763
CLP002 Colpocephaly 15 0.032
764
SBM006 Submucosal Cleft Palate 15 0.032
765
IMM061 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome-2 14 0.032
766
PRS111 Persistent Fifth Aortic Arch 14 0.032
767
c ADL001 Adult Lymphoma 13 0.032
768
GRN021 Granulomatous Rosacea 14 0.032
769
MTT004 Metatarsus Adductus 13 0.032
770
MNT014 Mental Retardation Epilepsy 12 0.032
771
TRG006 Trigger Thumb 12 0.032
772
PYM002 Pyometritis 6 0.032
773
P ALZ034 Alzheimer Disease 100 0.023
774
P PNC035 Pancreatic Cancer 82 0.023
775
P AST005 Asthma 84 0.023
776
P MTC003 Metachromatic Leukodystrophy 76 0.023
777
GLC006 Galactosemia 75 0.023
778
P HMC003 Hemochromatosis 75 0.023
779
P CHR090 Chronic Lymphocytic Leukemia 74 0.023
780
WLS001 Wilson Disease 74 0.023
781
P ALG002 Alagille Syndrome 73 0.023
782
PHN003 Phenylketonuria 73 0.023
783
P CRN211 Coronary Artery Disease 73 0.023
784
P OST012 Osteoarthritis 80 0.023
785
MLT021 Multiple System Atrophy 70 0.023
786
P CLC005 Celiac Disease 69 0.023
787
PRP003 Porphyria Cutanea Tarda 69 0.023
788
ACR007 Acromegaly 69 0.023
789
SVR004 Severe Combined Immunodeficiency 68 0.023
790
P NRC002 Narcolepsy 67 0.023
791
P STH001 Saethre-Chotzen Syndrome 67 0.023
792
CRB011 Cerebrotendinous Xanthomatosis 66 0.023
793
P ESS003 Essential Thrombocythemia 66 0.023
794
P DMN001 Diamond-Blackfan Anemia 66 0.023
795
KWS002 Kawasaki Disease 66 0.023
796
P FRG001 Fragile X Syndrome 66 0.023
797
NRR002 Norrie Disease 65 0.023
798
c HMP029 Hemophilia a 66 0.023
799
P HYP035 Hypophosphatasia 64 0.023
800
P LGH007 Leigh Syndrome 65 0.023
801
P CRT072 Creutzfeldt-Jakob Disease 64 0.023
802
P PNC025 Panic Disorder 64 0.023
803
P MYS003 Myasthenia Gravis 64 0.023
804
P EPD002 Epidermolytic Hyperkeratosis 64 0.023
805
CFF002 Coffin-Lowry Syndrome 63 0.023
806
RLP001 Relapsing Polychondritis 63 0.023
807
P MYS005 Myositis 63 0.023
808
P CCK001 Cockayne Syndrome 62 0.023
809
MLG056 Malignant Hyperthermia 62 0.023
810
GLN010 Glanzmann Thrombasthenia 63 0.023
811
STR067 Stroke, Ischemic 65 0.023
812
P HYP117 Hypertriglyceridemia 61 0.023
813
NLP001 Nail-Patella Syndrome 61 0.023
814
P WLF004 Wolfram Syndrome 61 0.023
815
HYP042 Hypochondroplasia 61 0.023
816
CHR029 Choroid Plexus Papilloma 61 0.023
817
P ATR011 Atrial Fibrillation 62 0.023
818
c ESS001 Essential Tremor 61 0.023
819
P MCH002 Machado-Joseph Disease 61 0.023
820
DNY001 Denys-Drash Syndrome 61 0.023
821
P VLC001 Velocardiofacial Syndrome 60 0.023
822
ALC007 Alcohol Dependence 60 0.023
823
P DYS007 Dyskeratosis Congenita 60 0.023
824
PSD012 Pseudoachondroplasia 60 0.023
825
P CTR001 Citrullinemia 59 0.023
826
P OST009 Osteochondritis Dissecans 59 0.023
827
CST001 Costello Syndrome 59 0.023
828
WLK001 Walker-Warburg Syndrome 59 0.023
829
P ORT004 Orthostatic Intolerance 59 0.023
830
PBL001 Piebaldism 59 0.023
831
PST028 Post-Traumatic Stress Disorder 59 0.023
832
VSC007 Vascular Disease 59 0.023
833
c MLG068 Malignant Glioma 58 0.023
834
STR008 Strongyloidiasis 58 0.023
835
ACN011 Acne 58 0.023
836
c NRF019 Neurofibromatosis, Type 2 59 0.023
837
P MNN013 Meningitis 58 0.023
838
P HYP020 Hyperprolactinemia 58 0.023
839
CRY005 Cryptococcosis 58 0.023
840
P THY097 Thyroid Hormone Resistance 59 0.023
841
WLL001 Williams-Beuren Syndrome 58 0.023
842
OLV001 Olivopontocerebellar Atrophy 58 0.023
843
BRT005 Barth Syndrome 58 0.023
844
P THY023 Thymoma 57 0.023
845
P THR015 Thrombophilia 57 0.023
846
PLS006 Plasmodium Vivax Malaria 57 0.023
847
P HYP097 Hyperekplexia 57 0.023
848
TWN003 Townes-Brocks Syndrome 57 0.023
849
WGR001 Wagr Syndrome 57 0.023
850
SHG001 Shigellosis 56 0.023
851
CNR002 Cone-Rod Dystrophy 56 0.023
852
P GST044 Gastritis 56 0.023
853
DRR010 Darier Disease 57 0.023
854
P PRM006 Primary Biliary Cirrhosis 56 0.023
855
P ATP001 Atopic Dermatitis 56 0.023
856
GLC085 Glucose-6-Phosphate Dehydrogenase Deficiency 57 0.023
857
P GT001 Gout 56 0.023
858
c BSL007 Basal Cell Carcinoma 56 0.023
859
IRR002 Irritable Bowel Syndrome 56 0.023
860
OCL008 Oculopharyngeal Muscular Dystrophy 56 0.023
861
BTN003 Biotinidase Deficiency 56 0.023
862
P PRT010 Parathyroid Carcinoma 56 0.023
863
P BRG001 Brugada Syndrome 56 0.023
864
P ALP009 Alopecia Areata 56 0.023
865
P MCP010 Mucopolysaccharidosis 56 0.023
866
CHR066 Chronic Fatigue Syndrome 55 0.023
867
CRB037 Cerebral Palsy 55 0.023
868
P OLG002 Oligodendroglioma 55 0.023
869
RHM001 Rheumatic Fever 55 0.023
870
ART111 Artery Disease 55 0.023
871
PRT011 Protein C Deficiency 54 0.023
872
P PSR002 Psoriasis 54 0.023
873
P FTL001 Fetal Alcohol Syndrome 54 0.023
874
CMM005 Common Cold 54 0.023
875
CHR103 Charge Syndrome 54 0.023
876
P HMP002 Hemophagocytic Lymphohistiocytosis 54 0.023
877
SCK005 Sickle Cell Disease 54 0.023
878
DFC004 Deficiency Anemia 54 0.023
879
LYM009 Lymphocytic Choriomeningitis 54 0.023
880
BRN022 Bronchiectasis 54 0.023
881
P KLP003 Klippel-Feil Syndrome 54 0.023
882
CNC002 Cinca Syndrome 55 0.023
883
CRN036 Craniopharyngioma 54 0.023
884
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 54 0.023
885
P PRM051 Primary Pigmented Nodular Adrenocortical Disease 54 0.023
886
P EHL049 Ehlers-Danlos Syndrome Classical Type 53 0.023
887
ISC004 Ischemia 53 0.023
888
P RBL001 Rubella 53 0.023
889
P HYP620 Hypoprothrombinemia 54 0.023
890
P HYP050 Hyperinsulinemic Hypoglycemia 53 0.023
891
LWS003 Lowe Syndrome 54 0.023
892
RSD004 Rosai-Dorfman Disease 53 0.023
893
TST014 Testicular Cancer 53 0.023
894
BRC012 Brucellosis 53 0.023
895
P ICH001 Ichthyosis Vulgaris 52 0.023
896
LCH002 Lichen Planus 52 0.023
897
GNG013 Gingivitis 52 0.023
898
NRL004 Neuroleptic Malignant Syndrome 52 0.023
899
PTT006 Pituitary Adenoma 52 0.023
900
GLS001 Gliosarcoma 52 0.023
901
P AGM001 Agammaglobulinemia 59 0.023
902
c PSD066 Pseudohypoparathyroidism, Type Ib 53 0.023
903
KRT001 Keratoconjunctivitis Sicca 52 0.023
904
DBT001 Diabetic Ketoacidosis 52 0.023
905
ASP003 Aseptic Meningitis 52 0.023
906
P HMC002 Homocystinuria 52 0.023
907
P CPL006 Capillary Hemangioma 51 0.023
908
P LRY016 Laryngeal Carcinoma 51 0.023
909
ISC006 Ischemic Heart Disease 51 0.023
910
P OPN001 Open-Angle Glaucoma 51 0.023
911
HMR004 Hemorrhagic Fever with Renal Syndrome 51 0.023
912
SYS034 Systemic Onset Juvenile Idiopathic Arthritis 59 0.023
913
P MTH007 Methemoglobinemia 51 0.023
914
c ACT075 Acute Myocardial Infarction 57 0.023
915
PTT008 Pituitary Carcinoma 51 0.023
916
SPN020 Spondylosis 51 0.023
917
OLG003 Oligohydramnios 51 0.023
918
PMP001 Pemphigus 51 0.023
919
P RBN002 Robinow Syndrome 51 0.023
920
c SCN006 Secondary Syphilis 51 0.023
921
MRG003 Marginal Zone B-Cell Lymphoma 51 0.023
922
NRC020 Neuroectodermal Tumor 51 0.023
923
MGC001 Megacolon 51 0.023
924
FCT001 Factor Viii Deficiency 51 0.023
925
MNL001 Monilethrix 51 0.023
926
SYN007 Synovitis 51 0.023
927
c HPT003 Hepatitis a 51 0.023
928
WHM001 Whim Syndrome 50 0.023
929
CHL068 Cholestasis 50 0.023
930
CNN005 Connective Tissue Disease 50 0.023
931
CND002 Conduct Disorder 50 0.023
932
P SLP006 Sleep Apnea 50 0.023
933
PTH002 Pathological Gambling 50 0.023
934
P PRS038 Personality Disorder 50 0.023
935
RST001 Restless Legs Syndrome 50 0.023
936
c PST005 Posterior Uveitis 50 0.023
937
TMP001 Temporal Lobe Epilepsy 50 0.023
938
OST017 Osteomyelitis 50 0.023
939
ALC006 Alcoholic Hepatitis 58 0.023
940
P RTN025 Retinoschisis 50 0.023
941
THY022 Thymic Carcinoma 50 0.023
942
ANT011 Antisocial Personality Disorder 50 0.023
943
RBS001 Rabies 50 0.023
944
HMF006 Hemifacial Microsomia 50 0.023
945
HMM003 Hemimegalencephaly 49 0.023
946
ARC007 Arachnoid Cysts 49 0.023
947
BRN071 Brain Injury 49 0.023
948
ANG020 Angiosarcoma 49 0.023
949
THY033 Thyrotoxicosis 49 0.023
950
P CNT061 Conotruncal Heart Malformations 49 0.023
951
AMN001 Amenorrhea 49 0.023
952
BRN029 Brain Disease 49 0.023
953
P DGR001 Digeorge Syndrome 49 0.023
954
GNR004 Generalized Anxiety Disorder 49 0.023
955
NTR003 Natural Killer Cell Leukemia 49 0.023
956
CRY004 Cryoglobulinemia 49 0.023
957
MCR088 Microscopic Polyangiitis 49 0.023
958
TNS005 Tonsillitis 48 0.023
959
P TMT001 Timothy Syndrome 48 0.023
960
PYD001 Pyoderma Gangrenosum 48 0.023
961
GLC037 Glucocorticoid Resistance 48 0.023
962
VND002 Van Der Woude Syndrome 48 0.023
963
P RTN022 Retinal Vein Occlusion 48 0.023
964
IRN001 Iron Deficiency Anemia 48 0.023
965
TLP001 Talipes Equinovarus 48 0.023
966
P TRM003 Tremor 48 0.023
967
P ATR001 Atrioventricular Septal Defect 48 0.023
968
SCL003 Social Phobia 48 0.023
969
c MCP001 Mucopolysaccharidosis Iii 48 0.023
970
MRB003 Morbid Obesity 52 0.023
971
P PRN026 Porencephaly 48 0.023
972
ADR008 Adrenal Adenoma 48 0.023
973
HTC002 Hutchinson-Gilford Progeria 49 0.023
974
c ACT134 Acute Liver Failure 48 0.023
975
P END033 Endocarditis 48 0.023
976
HTR003 Heterotaxy 48 0.023
977
P PSD015 Pseudohypoparathyroidism 47 0.023
978
P RPP002 Rippling Muscle Disease 47 0.023
979
P PMP005 Pemphigus Vulgaris 47 0.023
980
INT002 Intermittent Claudication 47 0.023
981
P OPH004 Ophthalmoplegia 47 0.023
982
c HRD007 Hereditary Lymphedema 47 0.023
983
P PLM006 Pulmonary Alveolar Proteinosis 47 0.023
984
HYP099 Hyperferritinemia-Cataract Syndrome 48 0.023
985
P EXP004 Exophthalmos 47 0.023
986
PRD007 Periodontal Disease 47 0.023
987
P HYP027 Hypobetalipoproteinemia 47 0.023
988
P LFT003 Left Ventricular Noncompaction 46 0.023
989
KDS001 Kid Syndrome 46 0.023
990
TRM010 Traumatic Brain Injury 46 0.023
991
MLN007 Male Infertility 46 0.023
992
ART017 Aortic Disease 46 0.023
993
XLN010 X-Linked Adrenal Hypoplasia Congenita 46 0.023
994
P ZLL001 Zellweger Syndrome 46 0.023
995
c PND001 Pain Disorder 46 0.023
996
PRM003 Premature Ejaculation 46 0.023
997
VHW001 Vohwinkel Syndrome 46 0.023
998
ESP020 Esophageal Atresia 46 0.023
999
CCN001 Cocaine Dependence 46 0.023
1000
MYL001 Myelitis 46 0.023
1001
PLY012 Polyhydramnios 46 0.023
1002
TRP002 Tropical Spastic Paraparesis 46 0.023
1003
c XRD018 Xeroderma Pigmentosum, Group a 46 0.023
1004
HPY002 H. Pylori Infection 46 0.023
1005
BTH001 Bethlem Myopathy 45 0.023
1006
SPT004 Septic Arthritis 45 0.023
1007
EHR002 Ehrlichiosis 45 0.023
1008
P LKD001 Leukodystrophy 45 0.023
1009
c ADN012 Adenocarcinoma in Situ 45 0.023
1010
SPN019 Spondylolisthesis 45 0.023
1011
CHL069 Cholesteatoma 45 0.023
1012
c OST121 Osteogenesis Imperfecta, Type Iv 46 0.023
1013
c ANT034 Anterior Uveitis 45 0.023
1014
P JRV003 Jervell and Lange-Nielsen Syndrome 46 0.023
1015
c TYR013 Tyrosinemia, Type Ii 46 0.023
1016
ASP001 Asperger Syndrome 45 0.023
1017
P EPS003 Episodic Ataxia 45 0.023
1018
STN007 Stenotrophomonas Maltophilia 45 0.023
1019
CRB153 Cerebral Arteriovenous Malformation 46 0.023
1020
P HYD002 Hydronephrosis 45 0.023
1021
c HPT007 Hepatitis E 45 0.023
1022
c THN010 Thanatophoric Dysplasia, Type Ii 46 0.023
1023
FRZ001 Frozen Shoulder 45 0.023
1024
BCT015 Bacteremia 45 0.023
1025
P SPN183 Spontaneous Pneumothorax 45 0.023
1026
PRS023 Pearson Syndrome 45 0.023
1027
DYS073 Dysphagia 45 0.023
1028
PRM028 Paramyotonia Congenita 45 0.023
1029
ANG002 Angiostrongyliasis 44 0.023
1030
INT066 Interstitial Lung Disease 44 0.023
1031
EPS023 Epstein-Barr Virus-Associated Gastric Carcinoma 44 0.023
1032
P ALC004 Alcohol Abuse 48 0.023
1033
DNT011 Dentinogenesis Imperfecta 44 0.023
1034
CYS016 Cystic Kidney 44 0.023
1035
OLG006 Oligoastrocytoma 44 0.023
1036
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 44 0.023
1037
TRN015 Transient Cerebral Ischemia 44 0.023
1038
LPS007 Lupus Nephritis 44 0.023
1039
TRC040 Tracheoesophageal Fistula 44 0.023
1040
P NNT009 Neonatal Diabetes Mellitus 44 0.023
1041
P ACH011 Achondrogenesis 44 0.023
1042
MLK003 Melkersson-Rosenthal Syndrome 44 0.023
1043
ALC009 Alcoholic Liver Cirrhosis 43 0.023
1044
GNT031 Genitopatellar Syndrome 43 0.023
1045
P BNG026 Benign Neonatal Seizures 43 0.023
1046
NSP012 Nasopharyngeal Carcinoma 44 0.023
1047
DPM001 Dopamine Beta-Hydroxylase Deficiency 43 0.023
1048
ACS001 Acoustic Neuroma 43 0.023
1049
CLS010 Cluster Headache 43 0.023
1050
PLM070 Pulmonic Stenosis 43 0.023
1051
CND005 Cone Dystrophy 43 0.023
1052
OBS006 Obstructive Lung Disease 43 0.023
1053
HCL001 Hcl-V 43 0.023
1054
PNM008 Pneumothorax 43 0.023
1055
MYC013 Mycobacterium Abscessus 43 0.023
1056
PRT026 Parotitis 43 0.023
1057
MST005 Mastitis 43 0.023
1058
P TRC091 Trichorhinophalangeal Syndrome, Type Ii 44 0.023
1059
HDR006 Hidradenocarcinoma 43 0.023
1060