Search results for "DES"

1460 hits were found for 'DES'

# Family MCID Name MIFTS Score
1
c CRN015 Cornelia De Lange Syndrome 52 7.257
2
GLL008 Gilles De La Tourette Syndrome 72 5.739
3
c DSR003 Des-Related Dilated Cardiomyopathy 10 5.466
4
P KLN008 Koolen De Vries Syndrome 34 4.906
5
DQR001 De Quervain Disease 17 4.878
6
P FNC004 Fanconi Syndrome 50 4.346
7
c ATL009 Atelosteogenesis Type 2 38 4.234
8
P MYP004 Myopathy 61 4.098
9
MLD004 Mal De Debarquement 21 4.097
10
DBR002 De Barsy Syndrome 22 4.022
11
DSN001 De Sanctis-Cacchione Syndrome 28 4.007
12
SPT014 Septo-Optic Dysplasia 69 3.991
13
GRB001 Grubben De Cock Borghgraef Syndrome 19 3.613
14
DHW001 De Hauwere Syndrome 30 3.588
15
P DLT002 Dilated Cardiomyopathy 87 3.499
16
c MYP072 Myopathy, Myofibrillar, 1 25 3.459
17
P CRN139 Cornelia De Lange Syndrome 1 48 3.303
18
P CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 38 3.230
19
TND003 Toni-Debre-Fanconi Syndrome 8 3.221
20
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 33 3.211
21
MLD003 Meleda Disease 30 3.211
22
SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 21 3.158
23
P LPS002 Liposarcoma 60 2.870
24
DSM004 Desmoid Tumor 68 2.845
25
P CHN012 Chondrosarcoma 63 2.845
26
P GNT008 Giant Cell Tumor 57 2.845
27
P GST019 Gastrointestinal Stromal Tumor 83 2.835
28
P LYM007 Lymphangioleiomyomatosis 74 2.835
29
LMY002 Leiomyoma 67 2.835
30
CHR072 Chordoma 65 2.835
31
FBR003 Fibrous Histiocytoma 54 2.835
32
HST009 Histiocytoma 54 2.835
33
ANG018 Angiomyolipoma 51 2.835
34
SMT002 Smooth Muscle Tumor 45 2.835
35
LPM004 Lipoma 65 2.824
36
P LMY004 Leiomyosarcoma 61 2.824
37
P HMN013 Hemangiopericytoma 54 2.824
38
P GRN010 Granular Cell Tumor 54 2.824
39
ADN020 Adenosarcoma 52 2.824
40
RHB017 Rhabdoid Tumor 50 2.824
41
FBR019 Fibromatosis 46 2.824
42
FBR054 Fibroma 46 2.824
43
FSC004 Fasciitis 45 2.824
44
c INF049 Infantile Myofibromatosis 43 2.824
45
P SRT002 Sertoli Cell Tumor 40 2.824
46
DTH005 Diethylstilbestrol Syndrome 16 2.805
47
STL003 Stoelinga De Koomen Davis Syndrome 5 2.805
48
DGR003 De Grouchy Syndrome 5 2.805
49
c CRN209 Cornelia De Lange Syndrome 5 16 2.795
50
TRS019 Torsade-De-Pointes Syndrome with Short Coupling Interval 5 2.795
51
FRN019 Frints De Smet Fabry Fryns Syndrome 2 2.795
52
c CRN135 Cornelia De Lange Syndrome 3 14 2.772
53
c CRN215 Cornelia De Lange Syndrome 4 14 2.772
54
MRF010 Marfanoid Syndrome, De Silva Type 9 2.772
55
LNR005 Linear Scleroderma 24 2.492
56
c MSC095 Muscular Dystrophy, Limb-Girdle, Type 2r 19 2.446
57
c CRD111 Cardiomyopathy, Dilated, 1i 13 2.446
58
c CRN134 Cornelia De Lange Syndrome 2 18 2.310
59
TNF002 Toni-Fanconi Syndrome 8 2.310
60
P KLL001 Kallmann Syndrome 56 2.290
61
DYS036 Dysequilibrium Syndrome 33 2.278
62
NNR006 Non-Eruption of Teeth - Maxillary Hypoplasia - Genu Valgum 17 2.278
63
IRS006 Iris Dysplasia Hypertelorism Deafness 10 2.278
64
XLN024 X-Linked Mental Retardation De Silva Type 3 2.278
65
MRP003 Marphanoid Syndrome Type De Silva 1 2.278
66
MST011 Mastroiacovo De Rosa Satta Syndrome 1 2.278
67
WLL008 Willems De Vries Syndrome 1 2.278
68
RTC002 Reticular Dysgenesis 53 2.263
69
NXS001 Naxos Disease 48 2.263
70
IVC001 Ivic Syndrome 29 2.263
71
GLT018 Glut1 Deficiency Syndrome 1 26 2.263
72
DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 18 2.263
73
CLF019 Cleft Palate Short Stature Vertebral Anomalies 15 2.263
74
c HDC004 Hdac8-Related Cornelia De Lange Syndrome 8 2.263
75
c NPB001 Nipbl-Related Cornelia De Lange Syndrome 8 2.263
76
c RD2001 Rad21-Related Cornelia De Lange Syndrome 8 2.263
77
c SMC001 Smc1a-Related Cornelia De Lange Syndrome 8 2.263
78
c SMC002 Smc3-Related Cornelia De Lange Syndrome 8 2.263
79
c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 4 2.263
80
ATR057 Atrioventricular Block 52 2.045
81
DDF001 Dedifferentiated Liposarcoma 47 2.035
82
P MDL005 Medulloblastoma 80 2.024
83
P ALX003 Alexander Disease 76 2.024
84
CVR006 Cavernous Hemangioma 58 2.024
85
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 56 2.024
86
SLT008 Solitary Fibrous Tumor 55 2.024
87
PYL006 Pyloric Stenosis 49 2.024
88
CRT008 Carotid Artery Dissection 47 2.024
89
c MLG067 Malignant Giant Cell Tumor 35 2.024
90
P CNT004 Centronuclear Myopathy 66 2.012
91
FBR032 Fibromuscular Dysplasia 61 2.012
92
END031 Endometrial Stromal Sarcoma 53 2.012
93
c RST002 Restrictive Cardiomyopathy 52 2.012
94
NNT016 Neonatal Hemochromatosis 49 2.012
95
UTR043 Uterine Sarcoma 45 2.012
96
INT020 Intravenous Leiomyomatosis 37 2.012
97
DRM014 Dermatofibrosarcoma Protuberans 68 1.997
98
PRP025 Peripheral Primitive Neuroectodermal Tumor 66 1.997
99
MYX005 Myxoid Liposarcoma 59 1.997
100
ALV005 Alveolar Soft Part Sarcoma 58 1.997
101
P SYR003 Syringoma 54 1.997
102
DSM007 Desmoplastic Small Round Cell Tumor 54 1.997
103
P MSN005 Mesenchymal Chondrosarcoma 53 1.997
104
c CRD162 Cardiomyopathy, Dilated, 1ii 52 1.997
105
ADN014 Adenomatoid Tumor 51 1.997
106
CRN055 Carney Triad 50 1.997
107
CHL052 Choledochal Cyst 50 1.997
108
DYS032 Dystrophinopathies 50 1.997
109
INF058 Inflammatory Myofibroblastic Tumor 49 1.997
110
P PLM030 Pleomorphic Rhabdomyosarcoma 49 1.997
111
P BNG071 Benign Schwannoma 49 1.997
112
EMB007 Embryonal Sarcoma 48 1.997
113
P EMB005 Embryonal Rhabdomyosarcoma 48 1.997
114
BLD033 Bile Duct Adenoma 48 1.997
115
c EPL003 Epulis 47 1.997
116
SPN006 Spindle Cell Lipoma 47 1.997
117
P BTR001 Botryoid Rhabdomyosarcoma 46 1.997
118
TNS001 Tenosynovial Giant Cell Tumor 46 1.997
119
P CYS007 Cystic Nephroma 45 1.997
120
BNG041 Benign Metastasizing Leiomyoma 45 1.997
121
MLN057 Melanoma of Soft Parts 44 1.997
122
HPT006 Hepatic Angiomyolipoma 44 1.997
123
MYX013 Myxofibrosarcoma 44 1.997
124
P CLR017 Clear Cell Sarcoma 44 1.997
125
EPT011 Epithelioid Leiomyosarcoma 44 1.997
126
END043 Endometrial Stromal Tumor 43 1.997
127
SRC001 Sarcomatoid Mesothelioma 42 1.997
128
P OVR058 Ovarian Small Cell Carcinoma 42 1.997
129
PLM016 Pleomorphic Carcinoma 42 1.997
130
PRV003 Perivascular Epithelioid Cell Tumor 42 1.997
131
MTN001 Metanephric Adenoma 42 1.997
132
OSS002 Ossifying Fibromyxoid Tumor 42 1.997
133
P CNG004 Congenital Epulis 41 1.997
134
CTN012 Cutaneous Leiomyosarcoma 41 1.997
135
PLM068 Pulmonary Vein Stenosis 40 1.997
136
INF046 Infantile Digital Fibromatosis 38 1.997
137
LYM095 Lymphangiomatosis 37 1.997
138
RTR007 Retroperitoneal Leiomyosarcoma 36 1.997
139
CLL005 Cellular Leiomyoma 35 1.997
140
PRC011 Parachordoma 34 1.997
141
TST037 Testicular Sex Cord-Stromal Tumor 33 1.997
142
GST036 Gastric Leiomyosarcoma 32 1.997
143
SPH012 Spheroid Body Myopathy 31 1.997
144
MLG018 Malignant Giant Cell Tumor of Soft Parts 30 1.997
145
SPN009 Spindle Cell Rhabdomyosarcoma 29 1.997
146
FBR001 Fibrous Meningioma 28 1.997
147
CYT006 Cytoplasmic Body Myopathy 28 1.997
148
LRG003 Large Cell Medulloblastoma 27 1.997
149
SPN048 Spindle Cell Thymoma 26 1.997
150
ENM001 Enamel Caries 21 1.997
151
RDC010 Reducing Body Myopathy 20 1.997
152
c INF031 Inflammatory Leiomyosarcoma 14 1.997
153
c OVR041 Ovarian Benign Neoplasm 7 1.997
154
c SBC007 Subacute Thyroiditis 45 1.769
155
TRN001 Transthyretin Amyloidosis 65 1.634
156
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 24 1.634
157
18Q002 18q Deletion Syndrome 40 1.619
158
P MNS007 Monosomy 18p 30 1.619
159
SYM014 Symbrachydactyly of Hands and Feet 12 1.619
160
ULN014 Ulnar Hemimelia 12 1.619
161
CFF003 Caffey Disease 51 1.600
162
46X029 46xx Sex Reversal 1 43 1.600
163
FHR001 Fuhrmann Syndrome 32 1.600
164
SPR031 Sprengel Deformity 25 1.600
165
VRL015 Verloes Van Maldergem Marneffe Syndrome 20 1.600
166
NRS006 Norse 18 1.600
167
OCL057 Oculotrichodysplasia 16 1.600
168
ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 11 1.600
169
c 3Q2004 3q26 Microduplication Syndrome 8 1.600
170
ULN008 Ulnar Hypoplasia Lobster Claw Deformity of Feet 6 1.600
171
HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 3 1.600
172
SHR014 Short Stature Contractures Hypotonia 2 1.600
173
c ATS136 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 16 1.412
174
P LKM002 Leukemia 76 0.311
175
c MYL006 Myeloid Leukemia 74 0.236
176
P ACT019 Acute Myeloid Leukemia 92 0.234
177
c MNT147 Mental Retardation 56 0.167
178
c SCL016 Scleroderma 64 0.165
179
c HPT021 Hepatitis 63 0.159
180
HPT023 Hepatocellular Carcinoma 54 0.157
181
c THY032 Thyroiditis 65 0.154
182
c LNG028 Long Qt Syndrome 64 0.137
183
P BCL006 B-Cell Lymphomas 56 0.125
184
MYL040 Myelodysplastic Syndromes 79 0.123
185
END072 Endotheliitis 50 0.119
186
DFF005 Diffuse Large B-Cell Lymphoma 55 0.114
187
P BRS047 Breast Cancer 85 0.112
188
P ADN016 Adenocarcinoma 58 0.112
189
P GLM007 Glomerulonephritis 68 0.110
190
SPR010 Sporotrichosis 52 0.110
191
CRB009 Cerebritis 38 0.110
192
PRS047 Prostatitis 59 0.105
193
c MCR010 Microcephaly 56 0.105
194
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 43 0.102
195
NRP001 Neuropathy 61 0.100
196
SRC014 Sarcoma 68 0.094
197
c DYS154 Dystonia 60 0.094
198
c ATM011 Autoimmune Hepatitis 60 0.094
199
c ATX004 Ataxia 58 0.094
200
c MSC005 Muscular Dystrophy 61 0.092
201
c MLT074 Multiple Endocrine Neoplasia 60 0.092
202
P PRK002 Parkinson's Disease 92 0.089
203
P HYP075 Hypertension 85 0.089
204
P SHR002 Short Stature 68 0.089
205
P GLB002 Glioblastoma 58 0.089
206
EPD016 Epidermolysis Bullosa 57 0.089
207
ANR040 Aneurysm 45 0.089
208
HYP005 Hypokalemia 49 0.086
209
CVR010 Cavernous Malformation 35 0.086
210
HDG007 Hodgkin's Lymphoma 93 0.083
211
ADN018 Adenoma 65 0.083
212
P CRV039 Cervicitis 57 0.083
213
NRN002 Neuronitis 43 0.083
214
SYN053 Syndromic Diarrhea 34 0.083
215
MMB002 Membranous Glomerulonephritis 52 0.079
216
HYP265 Hypotonia 40 0.079
217
P SCH015 Schizophrenia 84 0.076
218
P CHR071 Charcot-Marie-Tooth Disease 73 0.076
219
P ANG001 Angelman Syndrome 71 0.076
220
c HPT016 Hepatitis B 68 0.076
221
c ACT073 Acute Leukemia 56 0.076
222
TTH006 Tooth Disease 55 0.076
223
RTN023 Retinitis 53 0.076
224
P FLL037 Follicular Lymphoma 47 0.076
225
KRT012 Keratoderma 45 0.076
226
P MYC007 Myocardial Infarction 92 0.072
227
P LNG032 Lung Cancer 78 0.072
228
OBS002 Obsessive-Compulsive Disorder 71 0.072
229
P HPT001 Hepatitis C 66 0.072
230
ZLL002 Zollinger-Ellison Syndrome 65 0.072
231
P MLN008 Melanoma 64 0.072
232
c HYP069 Hyperparathyroidism 64 0.072
233
ECT006 Ectodermal Dysplasia 55 0.072
234
THR013 Thoracic Outlet Syndrome 52 0.072
235
CLR003 Clear Cell Adenocarcinoma 52 0.072
236
P ART022 Arthritis 74 0.069
237
P MGR002 Migraine 71 0.069
238
c HLP001 Holoprosencephaly 68 0.069
239
ANR002 Aniridia 64 0.069
240
P ATS007 Autism Spectrum Disorder 58 0.069
241
c LYM026 Lymphoblastic Leukemia 56 0.069
242
P FML011 Familial Adenomatous Polyposis 89 0.065
243
VNH001 Von Hippel-Lindau Disease 81 0.065
244
LSC001 Lesch-Nyhan Syndrome 78 0.065
245
P LPR003 Leprosy 77 0.065
246
P RBN001 Rubinstein-Taybi Syndrome 77 0.065
247
P PNM007 Pneumonia 77 0.065
248
LSH001 Leishmaniasis 73 0.065
249
ACT119 Acute Promyelocytic Leukemia 68 0.065
250
c PNC044 Pancreatitis 68 0.065
251
c AMY001 Amyotrophic Lateral Sclerosis 66 0.065
252
c HYP061 Hypertrophic Cardiomyopathy 64 0.065
253
P ACT101 Acute Lymphoblastic Leukemia 64 0.065
254
c KDN018 Kidney Disease 62 0.065
255
WLF002 Wolf-Hirschhorn Syndrome 61 0.065
256
P MYC008 Myocarditis 57 0.065
257
PRT039 Proteinuria 57 0.065
258
c CTR002 Cataract 57 0.065
259
P INT030 Intracranial Aneurysm 56 0.065
260
c CHR285 Chronic Myelomonocytic Leukemia 55 0.065
261
c DRR001 Diarrhea 51 0.065
262
c HMP006 Hemiplegic Migraine 50 0.065
263
GST053 Gastric Cancer 38 0.065
264
SPS057 Spasticity 37 0.065
265
c MNS008 Monosomy 21 31 0.065
266
CYT019 Cytogenetically Normal Acute Myeloid Leukemia 29 0.065
267
P PRS040 Prostate Cancer 97 0.061
268
P RHM011 Rheumatoid Arthritis 94 0.061
269
AND002 Androgen Insensitivity Syndrome 80 0.061
270
c NNN003 Noonan Syndrome 79 0.061
271
PRT036 Peritonitis 71 0.061
272
c CRN037 Craniosynostosis 69 0.061
273
P PRM019 Premature Ovarian Failure 66 0.061
274
ACN002 Acanthosis Nigricans 64 0.061
275
MNT001 Mantle Cell Lymphoma 64 0.061
276
P RNL014 Renal Cell Carcinoma 63 0.061
277
P ESP024 Esophagitis 63 0.061
278
ART005 Arteriovenous Malformation 62 0.061
279
c LCL006 Localized Scleroderma 59 0.061
280
c CNG015 Congenital Diaphragmatic Hernia 58 0.061
281
P HMR012 Hemorrhagic Fever 57 0.061
282
P DWR001 Dwarfism 54 0.061
283
LPT001 Leptospirosis 53 0.061
284
P CLF002 Cleft Palate 51 0.061
285
c VSC005 Vesicoureteral Reflux 50 0.061
286
P ATX010 Ataxia Neuropathy Spectrum 47 0.061
287
CRN030 Coronary Stenosis 43 0.061
288
HMT018 Hematopoietic Stem Cell Transplantation 40 0.061
289
P OBS005 Obesity 89 0.056
290
KPS001 Kaposi's Sarcoma 86 0.056
291
TBR010 Tuberculosis 85 0.056
292
P RTT002 Rett Syndrome 83 0.056
293
ADR007 Adrenoleukodystrophy 80 0.056
294
c PRM002 Primary Hyperoxaluria 73 0.056
295
c THL005 Thalassemia 71 0.056
296
ACQ007 Acquired Immunodeficiency Syndrome 70 0.056
297
ATS001 Autistic Disorder 70 0.056
298
P NRB001 Neuroblastoma 70 0.056
299
c THR014 Thrombocytopenia 69 0.056
300
c CHR129 Charcot-Marie-Tooth Disease Type 1a 67 0.056
301
P WLM002 Wilms Tumor 66 0.056
302
c NTR004 Neutropenia 65 0.056
303
P CLN016 Colon Cancer 64 0.056
304
ART019 Aortic Valve Stenosis 63 0.056
305
c AMY077 Amyotrophic Lateral Sclerosis Type 18 63 0.056
306
LRN003 Learning Disability 62 0.056
307
VGN023 Vaginitis 62 0.056
308
HYD012 Hydrops Fetalis 61 0.056
309
P AMY074 Amyotrophic Lateral Sclerosis Type 14 59 0.056
310
CLF001 Cleft Lip 59 0.056
311
MYC002 Mycobacterium Avium Complex Disease 58 0.056
312
HYP266 Hypoxia 57 0.056
313
SNS001 Sensorineural Hearing Loss 57 0.056
314
P GND004 Gonadal Dysgenesis 50 0.056
315
TCD001 Tic Disorder 48 0.056
316
GRM004 Germinoma 44 0.056
317
SPL040 Split Hand 40 0.056
318
FCL003 Facial Hemiatrophy 32 0.056
319
AND005 Androgen Insensitivity Syndrome, Mild 21 0.056
320
P NRF002 Neurofibromatosis 94 0.051
321
MRF001 Marfan Syndrome 85 0.051
322
PTZ001 Peutz-Jeghers Syndrome 77 0.051
323
ANK002 Ankylosing Spondylitis 76 0.051
324
P MLR004 Malaria 74 0.051
325
P PRM005 Primary Hyperparathyroidism 70 0.051
326
c AXN002 Axenfeld-Rieger Syndrome 69 0.051
327
P HYD006 Hydrocephalus 69 0.051
328
P HRD011 Hereditary Spherocytosis 68 0.051
329
P LVR013 Liver Disease 68 0.051
330
P RCK004 Rickets 67 0.051
331
P TRN020 Turner Syndrome 67 0.051
332
STT001 Status Epilepticus 65 0.051
333
c XRD001 Xeroderma Pigmentosum 65 0.051
334
P HYP013 Hypohidrotic Ectodermal Dysplasia 62 0.051
335
c MYL007 Myeloma 60 0.051
336
RHB003 Rhabdomyosarcoma 58 0.051
337
CRD002 Cri-Du-Chat Syndrome 58 0.051
338
P PLY006 Polydactyly 56 0.051
339
P HYP040 Hypospadias 54 0.051
340
c ACR001 Aicardi-Goutieres Syndrome 54 0.051
341
CHR008 Choroiditis 53 0.051
342
AND003 Andersen-Tawil Syndrome 53 0.051
343
SPT005 Spotted Fever 52 0.051
344
c CRB126 Cerebral Cavernous Malformation 50 0.051
345
P DYS021 Dysautonomia 48 0.051
346
CHN005 Choanal Atresia 47 0.051
347
GLM011 Glomerulosclerosis 47 0.051
348
c HPT073 Hepatitis C Virus 47 0.051
349
EPL002 Epilepsy Syndrome 45 0.051
350
P FCS001 Facioscapulohumeral Muscular Dystrophy 44 0.051
351
SYN036 Syncope 44 0.051
352
CRB045 Cerebellar Hypoplasia 39 0.051
353
CLF027 Cleft Palate, Isolated 37 0.051
354
ECH002 Echolalia 25 0.051
355
c DMN011 Dominant Dystrophic Epidermolysis Bullosa 19 0.051
356
c RNG019 Ring Chromosome 3 15 0.051
357
P ATX002 Ataxia Telangiectasia 87 0.046
358
P MLT020 Multiple Sclerosis 84 0.046
359
P PHC003 Pheochromocytoma 82 0.046
360
P PLZ001 Pelizaeus-Merzbacher Disease 78 0.046
361
P CLR023 Colorectal Cancer 77 0.046
362
DCH001 Duchenne Muscular Dystrophy 77 0.046
363
P MYL005 Myelofibrosis 74 0.046
364
c DBT009 Diabetes Mellitus 73 0.046
365
P AMY004 Amyloidosis 73 0.046
366
P AST007 Astrocytoma 72 0.046
367
WST001 West Syndrome 72 0.046
368
P MLT042 Multiple Endocrine Neoplasia Type 2a 72 0.046
369
SPS077 Sepsis 69 0.046
370
P CNG401 Congenital Heart Disease 69 0.046
371
ATH003 Atherosclerosis 68 0.046
372
P BCK002 Beckwith-Wiedemann Syndrome 68 0.046
373
P LNG044 Long Qt Syndrome 1 68 0.046
374
c HYP086 Hypothyroidism 68 0.046
375
CLB001 Coloboma 68 0.046
376
P ANR007 Anorexia Nervosa 65 0.046
377
CMP005 Campomelic Dysplasia 65 0.046
378
VSC011 Vasculitis 65 0.046
379
c HML002 Hemolytic Anemia 65 0.046
380
P INS005 Insulin Resistance 64 0.046
381
ULC004 Ulcerative Colitis 64 0.046
382
CLT003 Colitis 64 0.046
383
KRN002 Kearns-Sayre Syndrome 63 0.046
384
P CRB042 Cerebellar Ataxia 62 0.046
385
c THN001 Thanatophoric Dysplasia 61 0.046
386
P CNJ013 Conjunctivitis 61 0.046
387
c EPD003 Epidermolysis Bullosa Simplex 61 0.046
388
DWN001 Down Syndrome 61 0.046
389
P PRM054 Primary Sclerosing Cholangitis 60 0.046
390
BRN002 Bronchiolitis 60 0.046
391
SPT013 Septic Shock 60 0.046
392
BRN012 Bronchiolitis Obliterans 59 0.046
393
c TRT010 Teratoma 58 0.046
394
c HYP065 Hyperaldosteronism 57 0.046
395
c CTS001 Cutis Laxa 57 0.046
396
c SPN049 Spinocerebellar Ataxia 56 0.046
397
DDN006 Duodenitis 55 0.046
398
APP008 Appendicitis 55 0.046
399
CTN007 Cutaneous Leishmaniasis 55 0.046
400
LGN002 Legionellosis 55 0.046
401
P INF032 Infertility 54 0.046
402
c SVR003 Severe Congenital Neutropenia 54 0.046
403
HYP077 Hypertrichosis 53 0.046
404
ORL011 Oral Cancer 53 0.046
405
MCR013 Microphthalmia 53 0.046
406
BLN003 Blindness 52 0.046
407
c INF016 Infantile Epileptic Encephalopathy 52 0.046
408
c LYM025 Lymphedema 52 0.046
409
CLN015 Colon Adenocarcinoma 52 0.046
410
GRW007 Growth Hormone Deficiency 52 0.046
411
P STR020 Strabismus 51 0.046
412
ALX002 Alexithymia 51 0.046
413
P SZR006 Seizure Disorder 50 0.046
414
c RNL078 Renal Dysplasia 47 0.046
415
FRN002 Frontal Lobe Epilepsy 46 0.046
416
EBL001 Ebola Hemorrhagic Fever 45 0.046
417
MYC033 Myoclonus 44 0.046
418
c ACT004 Acute Diarrhea 44 0.046
419
CYT008 Cytomegalovirus Infection 43 0.046
420
PRL017 Prolymphocytic Leukemia 43 0.046
421
HRD025 Hereditary Neuropathy with Liability to Pressure Palsies 40 0.046
422
SML028 Semilobar Holoprosencephaly 39 0.046
423
CHL061 Childhood Leukemia 38 0.046
424
BLP004 Blepharophimosis 37 0.046
425
c RNG023 Ring Chromosome 7 36 0.046
426
HRD088 Hereditary Neuropathies 32 0.046
427
SPR083 Sporadic Hemiplegic Migraine 31 0.046
428
SYN057 Syndromic Intellectual Disability 23 0.046
429
c BNG076 Benign Exophthalmos Syndrome 22 0.046
430
CYS001 Cystic Fibrosis 96 0.040
431
P MLT019 Multiple Myeloma 88 0.040
432
FBR012 Fabry Disease 85 0.040
433
SMT004 Smith-Lemli-Opitz Syndrome 84 0.040
434
CDS001 Cadasil 84 0.040
435
P RTN024 Retinoblastoma 83 0.040
436
P WSK001 Wiskott-Aldrich Syndrome 79 0.040
437
CLD001 Cleidocranial Dysplasia 79 0.040
438
P MNN012 Meningioma 78 0.040
439
THY028 Thyroid Cancer 74 0.040
440
WLF001 Wolff-Parkinson-White Syndrome 74 0.040
441
BLS001 Blau Syndrome 73 0.040
442
c CHR065 Chronic Myeloid Leukemia 73 0.040
443
P FCL005 Focal Segmental Glomerulosclerosis 72 0.040
444
SCH014 Schistosomiasis 72 0.040
445
P DRV001 Dravet Syndrome 71 0.040
446
P HMN010 Hemangioma 70 0.040
447
P RSP003 Respiratory Failure 68 0.040
448
CRB039 Cerebrovascular Disease 68 0.040
449
P CNG030 Congenital Muscular Dystrophy 67 0.040
450
c PRP029 Porphyria 67 0.040
451
P LBR001 Leber Congenital Amaurosis 67 0.040
452
P INF038 Influenza 67 0.040
453
PRC002 Paracoccidioidomycosis 67 0.040
454
DMN002 Dementia 66 0.040
455
c UVT001 Uveitis 65 0.040
456
DRM006 Dermatitis 65 0.040
457
PPL022 Papilloma 65 0.040
458
c ENC004 Encephalitis 65 0.040
459
c HMP007 Hemophilia 64 0.040
460
BRN028 Brain Cancer 64 0.040
461
HYP004 Hypercalcemia 64 0.040
462
P LRY019 Laryngitis 64 0.040
463
c NRN021 Neuronal Ceroid Lipofuscinosis 63 0.040
464
P ALP004 Alport Syndrome 63 0.040
465
CTS003 Coats Disease 63 0.040
466
VCT001 Vacterl Association 62 0.040
467
CHG001 Chagas Disease 62 0.040
468
c DST002 Distal Arthrogryposis 62 0.040
469
P PPL005 Papillary Renal Cell Carcinoma 62 0.040
470
c CND004 Candidiasis 61 0.040
471
ACR008 Acrocallosal Syndrome 61 0.040
472
P ALT001 Alternating Hemiplegia of Childhood 61 0.040
473
JCB001 Jacobsen Syndrome 60 0.040
474
c BRC006 Brachydactyly 60 0.040
475
P PRM124 Primary Hyperoxaluria Type 1 60 0.040
476
c ANG015 Angioedema 60 0.040
477
PSY004 Psychotic Disorder 60 0.040
478
ALP008 Alopecia 59 0.040
479
YLL002 Yellow Fever 59 0.040
480
SMT015 Smith Magenis Syndrome 58 0.040
481
CLL003 Cellulitis 58 0.040
482
HDC001 Headache 57 0.040
483
DPH001 Diphtheria 57 0.040
484
P MYM002 Moyamoya Disease 57 0.040
485
GLB015 Glioblastoma Multiforme 57 0.040
486
LYS001 Loeys-Dietz Syndrome 57 0.040
487
c LSS002 Lissencephaly 56 0.040
488
c HYP060 Hyperinsulinism 56 0.040
489
MLG077 Malignant Peripheral Nerve Sheath Tumor 56 0.040
490
ART001 Arterial Tortuosity Syndrome 55 0.040
491
MYL003 Myeloid Sarcoma 55 0.040
492
MTN003 Motion Sickness 55 0.040
493
P SPR013 Spiradenoma 55 0.040
494
CTY001 Cat Eye Syndrome 55 0.040
495
KLN001 Klinefelter's Syndrome 55 0.040
496
MCR004 Macroglobulinemia 54 0.040
497
MYC011 Myoclonus-Dystonia 54 0.040
498
CHR031 Chromoblastomycosis 54 0.040
499
P CHL066 Cholangitis 54 0.040
500
P ESN008 Eosinophilic Pneumonia 54 0.040
501
c SYN005 Synostosis 54 0.040
502
c STS001 Sotos Syndrome 53 0.040
503
P OMP004 Omphalocele 52 0.040
504
HMP005 Hemiplegia 52 0.040
505
c FBR031 Febrile Seizures 52 0.040
506
P PRP023 Peripheral Neuropathy 51 0.040
507
IMP002 Imperforate Anus 51 0.040
508
PYD002 Pyoderma 51 0.040
509
c TCL004 T-Cell Leukemia 50 0.040
510
P MJR001 Major Depressive Disorder 50 0.040
511
MCR020 Microsporidiosis 49 0.040
512
c OPT004 Optic Atrophy 49 0.040
513
c SCL009 Sclerosing Cholangitis 49 0.040
514
PRP036 Peripheral T-Cell Lymphoma 48 0.040
515
MTS001 Mutism 48 0.040
516
BLT006 Bilateral Breast Cancer 47 0.040
517
c CHR037 Chronic Eosinophilic Pneumonia 47 0.040
518
MMB001 Membranoproliferative Glomerulonephritis 47 0.040
519
PRP016 Paraplegia 47 0.040
520
P ART084 Arteriovenous Fistula 46 0.040
521
PNH001 Panhypopituitarism 45 0.040
522
DYS018 Dysostosis 45 0.040
523
CRV045 Cervical Intraepithelial Neoplasia 45 0.040
524
c APH002 Aphasia 43 0.040
525
CRS001 Crescentic Glomerulonephritis 43 0.040
526
P MYF003 Myofibrillar Myopathy 43 0.040
527
EPS026 Epispadias 42 0.040
528
c CHR104 Chorea 42 0.040
529
c TRS004 Torsion Dystonia 41 0.040
530
P VGN017 Vaginal Cancer 41 0.040
531
SPS019 Spastic Paraparesis 40 0.040
532
P END046 Endometritis 40 0.040
533
KBG001 Kbg Syndrome 39 0.040
534
CRB086 Cerebral Aneurysms 38 0.040
535
SPL039 Split Foot 37 0.040
536
c MYC068 Myoclonic Epilepsy of Infancy 37 0.040
537
HNS001 Hansen's Disease 37 0.040
538
15Q001 15q13.3 Microdeletion 34 0.040
539
HPT063 Hepatitis B Virus Infection 33 0.040
540
INT052 Intestinal Volvulus 33 0.040
541
P SLP003 Salpingitis 32 0.040
542
c LNG048 Long Qt Syndrome 3 32 0.040
543
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 31 0.040
544
TNG001 Tungiasis 29 0.040
545
CHR056 Chronic Tic Disorder 26 0.040
546
P BCL005 B Cell Prolymphocytic Leukemia 24 0.040
547
MN1001 Mn1 21 0.040
548
SNL003 Senile Angioma 19 0.040
549
P INT105 Intellectual Disability Multi-Gene Panels 16 0.040
550
NNS031 Non-Syndromic Intellectual Disability 15 0.040
551
P ALZ001 Alzheimer's Disease 98 0.032
552
P SYS001 Systemic Lupus Erythematosus 89 0.032
553
P LFR001 Li-Fraumeni Syndrome 88 0.032
554
P HNT001 Huntington's Disease 87 0.032
555
P RTN008 Retinitis Pigmentosa 86 0.032
556
SCK003 Sickle Cell Anemia 84 0.032
557
P GCH001 Gaucher's Disease 83 0.032
558
c BTT002 Beta Thalassemia 82 0.032
559
P OST018 Osteosarcoma 81 0.032
560
P HMP004 Hemophilia B 80 0.032
561
ACH004 Achondroplasia 79 0.032
562
ACT033 Acute Intermittent Porphyria 78 0.032
563
P LYN001 Lynch Syndrome 78 0.032
564
P HRD008 Hereditary Hemorrhagic Telangiectasia 76 0.032
565
P OST002 Osteoporosis 76 0.032
566
21H001 21-Hydroxylase Deficiency 76 0.032
567
LVR012 Liver Cirrhosis 76 0.032
568
c LPS004 Lupus Erythematosus 75 0.032
569
CRH001 Crohn's Disease 75 0.032
570
TTR001 Tetralogy of Fallot 74 0.032
571
P ALP006 Alpha Thalassemia 74 0.032
572
CHR012 Chronic Granulomatous Disease 74 0.032
573
P WGN002 Wegener's Granulomatosis 73 0.032
574
P PRD006 Prader-Willi Syndrome 73 0.032
575
c PLM037 Pulmonary Hypertension 73 0.032
576
PRG004 Progeria 73 0.032
577
c OST005 Osteogenesis Imperfecta 72 0.032
578
P TMP003 Temporal Arteritis 72 0.032
579
VNW001 Von Willebrand's Disease 71 0.032
580
FBR011 Fibrodysplasia Ossificans Progressiva 70 0.032
581
LKC001 Leukocyte Adhesion Deficiency 69 0.032
582
CHL065 Cholangiocarcinoma 69 0.032
583
P END044 Endometriosis 69 0.032
584
P PRD008 Periodontitis 68 0.032
585
ANX002 Anxiety Disorder 68 0.032
586
ANT006 Antiphospholipid Syndrome 68 0.032
587
GST034 Gastroesophageal Reflux Disease 68 0.032
588
P CRN008 Carney Complex 67 0.032
589
c JVN010 Juvenile Rheumatoid Arthritis 67 0.032
590
P HRP006 Herpes Simplex 66 0.032
591
LGG001 Legg-Calve-Perthes Disease 66 0.032
592
P HYP056 Hypoglycemia 66 0.032
593
P ATM010 Autoimmune Hemolytic Anemia 66 0.032
594
P SLV001 Silver-Russell Syndrome 66 0.032
595
c SPN069 Spinocerebellar Ataxia Type 7 65 0.032
596
c SPN046 Spinal Muscular Atrophy 65 0.032
597
c TXP001 Toxoplasmosis 65 0.032
598
P PCH001 Pachyonychia Congenita 64 0.032
599
P GRF002 Graft Versus Host Disease 64 0.032
600
CHL014 Cholera 64 0.032
601
BBS001 Babesiosis 64 0.032
602
c EHL001 Ehlers-Danlos Syndrome 63 0.032
603
CHR081 Choroideremia 63 0.032
604
c FML010 Familial Medullary Thyroid Carcinoma 63 0.032
605
RBR001 Roberts Syndrome 63 0.032
606
TRN018 Transitional Cell Carcinoma 63 0.032
607
P HLT001 Holt-Oram Syndrome 63 0.032
608
WLL003 Williams Syndrome 63 0.032
609
c HRD010 Hereditary Spastic Paraplegia 63 0.032
610
HV1006 Hiv-1 63 0.032
611
c AFB001 Afibrinogenemia 63 0.032
612
PRL009 Prolactinoma 62 0.032
613
ART031 Aortic Coarctation 62 0.032
614
BCK001 Becker Muscular Dystrophy 62 0.032
615
PLM014 Pleomorphic Adenoma 62 0.032
616
TYP007 Typhoid Fever 62 0.032
617
P XRD018 Xeroderma Pigmentosum, Group a 62 0.032
618
c HYP055 Hypoplastic Left Heart Syndrome 62 0.032
619
MLL005 Miller-Dieker Syndrome 62 0.032
620
P ANP001 Anaplastic Large Cell Lymphoma 62 0.032
621
c PLY014 Polycystic Kidney Disease 61 0.032
622
HYP066 Hyperglycemia 61 0.032
623
P EPN002 Ependymoma 61 0.032
624
P DDN001 Duodenal Ulcer 61 0.032
625
DSS009 Disseminated Intravascular Coagulation 61 0.032
626
c MYT002 Myotonic Dystrophy 61 0.032
627
XLN001 X-Linked Ichthyosis 61 0.032
628
c TYR004 Tyrosinemia 61 0.032
629
VSC003 Visceral Leishmaniasis 60 0.032
630
P PLY019 Polyneuropathy 60 0.032
631
c ALM001 Al Amyloidosis 60 0.032
632
P PRC019 Precocious Puberty 59 0.032
633
NRN004 Neuroendocrine Tumor 59 0.032
634
VNS009 Venous Thrombosis 59 0.032
635
P CFF001 Coffin-Siris Syndrome 59 0.032
636
DBL002 Double Outlet Right Ventricle 59 0.032
637
P HYP080 Hypogonadism 59 0.032
638
SCR002 Scurvy 59 0.032
639
c GLY013 Glycogen Storage Disease 59 0.032
640
OTT002 Otitis Media 58 0.032
641
c FML023 Familial Hemiplegic Migraine 58 0.032
642
BLM002 Bulimia Nervosa 58 0.032
643
LPD010 Lipodystrophy 58 0.032
644
SRT004 Serotonin Syndrome 57 0.032
645
END030 End Stage Renal Failure 57 0.032
646
P CNG021 Congenital Toxoplasmosis 57 0.032
647
c SCK002 Sick Sinus Syndrome 57 0.032
648
P SYP003 Syphilis 57 0.032
649
BRJ001 Borjeson-Forssman-Lehmann Syndrome 57 0.032
650
P CYS010 Cystinosis 57 0.032
651
NDL013 Nodular Regenerative Hyperplasia 57 0.032
652
INT054 Intraocular Lymphoma 57 0.032
653
P DBT005 Diabetes Insipidus 57 0.032
654
PST021 Postpartum Depression 57 0.032
655
CRN005 Craniofrontonasal Syndrome 57 0.032
656
SLP001 Sleeping Sickness 57 0.032
657
P HYP024 Hypoparathyroidism 57 0.032
658
P ACT009 Acute Monocytic Leukemia 56 0.032
659
SCN006 Secondary Syphilis 56 0.032
660
ANK001 Ankylosis 56 0.032
661
c MNC007 Monocytic Leukemia 56 0.032
662
P OCL013 Oculodentodigital Dysplasia 56 0.032
663
P RTN012 Retinopathy of Prematurity 56 0.032
664
c CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 56 0.032
665
c LTR001 Lateral Sclerosis 55 0.032
666
P HYP014 Hyperuricemia 55 0.032
667
RFT001 Rift Valley Fever 55 0.032
668
OCL006 Ocular Hypertension 54 0.032
669
P RCS002 Recessive Dystrophic Epidermolysis Bullosa 54 0.032
670
PRN009 Paranoid Schizophrenia 54 0.032
671
c ACT117 Acute Myelomonocytic Leukemia 54 0.032
672
P CRV043 Cervical Dystonia 54 0.032
673
P LDD002 Liddle Syndrome 54 0.032
674
c ART070 Aortic Valve Disease 54 0.032
675
IMP005 Impotence 54 0.032
676
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 54 0.032
677
LYM040 Lymphoblastic Lymphoma 53 0.032
678
SCH012 Schizoaffective Disorder 53 0.032
679
NPH051 Nephritis 53 0.032
680
CNS004 Constipation 53 0.032
681
TRD006 Tardive Dyskinesia 53 0.032
682
CHK001 Chikungunya 53 0.032
683
P MSC003 Muscular Atrophy 53 0.032
684
c DFF019 Diffuse Gastric Cancer 53 0.032
685
P HYP083 Hypopituitarism 52 0.032
686
PRM163 Primary Mediastinal Large B-Cell Lymphoma 52 0.032
687
RSC001 Rosacea 52 0.032
688
ISL003 Isolated Growth Hormone Deficiency 51 0.032
689
HMG002 Hemoglobinuria 51 0.032
690
P NML001 Nemaline Myopathy 50 0.032
691
CRN020 Coronary Restenosis 50 0.032
692
RFR010 Refractory Anemia 50 0.032
693
P ALV004 Alveolar Rhabdomyosarcoma 49 0.032
694
SBS003 Substance Abuse 49 0.032
695
SFT003 Soft Tissue Sarcoma 49 0.032
696
SCH016 Schimke Immunoosseous Dysplasia 48 0.032
697
GNG002 Ganglioneuroma 48 0.032
698
DRY001 Dry Eye Syndrome 48 0.032
699
P HML001 Hemolytic-Uremic Syndrome 47 0.032
700
c FML156 Familial Hyperaldosteronism 47 0.032
701
LCT001 Lactic Acidosis 47 0.032
702
DRG011 Drug Addiction 46 0.032
703
SCR024 Sacrococcygeal Teratoma 46 0.032
704
c CNT075 Central Precocious Puberty 46 0.032
705
c PRL003 Proliferative Glomerulonephritis 46 0.032
706
MDS022 Mediastinitis 45 0.032
707
CMP034 Complete Androgen Insensitivity Syndrome 45 0.032
708
P SPN052 Spondyloarthropathy 45 0.032
709
TND005 Tendinitis 45 0.032
710
P AZS001 Azoospermia 45 0.032
711
HTS001 Hiatus Hernia 45 0.032
712
MGL013 Megalencephaly 45 0.032
713
CRT015 Carotid Artery Occlusion 44 0.032
714
HRS011 Horseshoe Kidney 44 0.032
715
AGN013 Agenesis of the Corpus Callosum 44 0.032
716
ILS001 Ileus 44 0.032
717
FTT001 Fatty Liver Disease 44 0.032
718
BRS090 Breast Reconstruction 44 0.032
719
IMP006 Impulse Control Disorder 43 0.032
720
PRR010 Pierre Robin Sequence 43 0.032
721
TTR016 Tetra-Amelia Syndrome 43 0.032
722
c INF037 Inflammatory Bowel Disease 43 0.032
723
DXT001 Dextrocardia 43 0.032
724
P CYS017 Cystic Teratoma 43 0.032
725
TTH002 Tooth Agenesis 42 0.032
726
c CHR417 Chronic Graft Versus Host Disease 42 0.032
727
PHC013 Phaeochromocytoma 42 0.032
728
MCK002 Meckel's Diverticulum 42 0.032
729
XLN005 X-Linked Hyper Igm Syndrome 42 0.032
730
ANN005 Annular Pancreas 42 0.032
731
SML019 Smallpox 42 0.032
732
RCT011 Rectal Prolapse 41 0.032
733
MYC017 Mycobacterium Kansasii 41 0.032
734
P RSM001 Rasmussen Encephalitis 41 0.032
735
c MYP006 Myopia 41 0.032
736
c PNT019 Pontocerebellar Hypoplasia 41 0.032
737
TTH016 Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 40 0.032
738
P MNN007 Meningocele 40 0.032
739
ANG046 Angioimmunoblastic T-Cell Lymphoma 39 0.032
740
AND001 Anodontia 39 0.032
741
PLY013 Polymyalgia Rheumatica 39 0.032
742
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 39 0.032
743
TTH001 Tooth Ankylosis 39 0.032
744
DVL002 Developmental Disabilities 39 0.032
745
22Q001 22q11.2 Duplication 39 0.032
746
c NNS007 Nonsyndromic Deafness 38 0.032
747
ENC011 Encephalomyopathy 38 0.032
748
TND004 Tendinopathy 38 0.032
749
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 37 0.032
750
XRP001 Xerophthalmia 37 0.032
751
PRS045 Prostatic Hypertrophy 37 0.032
752
MYS004 Myiasis 36 0.032
753
GRD006 Geroderma Osteodysplastica 36 0.032
754
MVM001 Movement Disease 36 0.032
755
RCH001 Richter's Syndrome 35 0.032
756
MTC004 Mitochondrial Encephalomyopathy 35 0.032
757
c BRT040 Baraitser-Winter Syndrome 35 0.032
758
ADS002 Adie Syndrome 35 0.032
759
HYP101 Hyperinsulinism-Hyperammonemia Syndrome 35 0.032
760
CNG219 Congenital Aural Atresia 34 0.032
761
CLR109 Colorectal Adenocarcinoma 34 0.032
762
PLM074 Pulmonary Function 34 0.032
763
PLY024 Polymicrogyria 33 0.032
764
DRF001 Dirofilariasis 33 0.032
765
P LTT004 Lattice Corneal Dystrophy Type 1 33 0.032
766
c ATL001 Atelosteogenesis 32 0.032
767
WDM004 Wiedemann-Steiner Syndrome 32 0.032
768
c LNG047 Long Qt Syndrome 2 30 0.032
769
SHP002 Shprintzen-Goldberg Syndrome 30 0.032
770
c SCP001 Sc Phocomelia Syndrome 30 0.032
771
c PHC014 Phocomelia 29 0.032
772
c RNG022 Ring Chromosome 6 29 0.032
773
P HYP163 Hyperlipidemia Type 3 29 0.032
774
ECS001 Eec Syndrome 29 0.032
775
c CHR193 Chromosome 13q Deletion 29 0.032
776
HNM002 Hinman Syndrome 28 0.032
777
PLC009 Placenta Praevia 28 0.032
778
ENT001 Enterocele 28 0.032
779
END016 Endocervicitis 27 0.032
780
HRT011 Heart Septal Defect 27 0.032
781
CPG001 Capgras Syndrome 27 0.032
782
DDN009 Duodenal Obstruction 26 0.032
783
c RNG016 Ring Chromosome 20 25 0.032
784
c LNG050 Long Qt Syndrome 5 24 0.032
785
ART034 Aortopulmonary Window 24 0.032
786
c RNG013 Ring Chromosome 18 24 0.032
787
BFD003 Bifid Uvula 22 0.032
788
ART007 Aorta Atresia 22 0.032
789
c LNG051 Long Qt Syndrome 6 21 0.032
790
SML025 Small Non-Cleaved Cell Lymphoma 21 0.032
791
CLR033 Color Vision Deficiency 20 0.032
792
CLP002 Colpocephaly 18 0.032
793
GRN021 Granulomatous Rosacea 17 0.032
794
c ADL001 Adult Lymphoma 17 0.032
795
c LNG056 Long Qt Syndrome 12 17 0.032
796
ULR001 Ulerythema Ophryogenesis 16 0.032
797
SBM006 Submucosal Cleft Palate 16 0.032
798
PRS111 Persistent Fifth Aortic Arch 15 0.032
799
MNT014 Mental Retardation Epilepsy 14 0.032
800
MTT004 Metatarsus Adductus 14 0.032
801
TRG006 Trigger Thumb 13 0.032
802
IMM061 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome-2 12 0.032
803
PYM002 Pyometritis 9 0.032
804
c TYP009 Type 2 Diabetes Mellitus 100 0.023
805
P TYP008 Type 1 Diabetes Mellitus 95 0.023
806
P PNC035 Pancreatic Cancer 92 0.023
807
P LVR011 Liver Cancer 90 0.023
808
P CHR090 Chronic Lymphocytic Leukemia 88 0.023
809
P AST005 Asthma 87 0.023
810
MTC003 Metachromatic Leukodystrophy 85 0.023
811
P FML021 Familial Hypercholesterolemia 85 0.023
812
P HMC003 Hemochromatosis 85 0.023
813
P OVR042 Ovarian Cancer 84 0.023
814
PHN003 Phenylketonuria 83 0.023
815
WLS001 Wilson Disease 82 0.023
816
P HRS001 Hirschsprung's Disease 81 0.023
817
P ALG002 Alagille Syndrome 81 0.023
818
ACR007 Acromegaly 79 0.023
819
P MYS003 Myasthenia Gravis 79 0.023
820
P OST012 Osteoarthritis 78 0.023
821
SVR004 Severe Combined Immunodeficiency 78 0.023
822
BRK003 Burkitt's Lymphoma 77 0.023
823
P FRG001 Fragile X Syndrome 77 0.023
824
P STH001 Saethre-Chotzen Syndrome 76 0.023
825
CRB011 Cerebrotendinous Xanthomatosis 76 0.023
826
GLN003 Glanzmann's Thrombasthenia 76 0.023
827
P PRP003 Porphyria Cutanea Tarda 75 0.023
828
KWS002 Kawasaki Disease 75 0.023
829
P END042 Endometrial Carcinoma 75 0.023
830
P CLC005 Celiac Disease 74 0.023
831
FCT001 Factor Viii Deficiency 74 0.023
832
NRR002 Norrie Disease 74 0.023
833
P NRC002 Narcolepsy 74 0.023
834
MNK001 Menkes Disease 74 0.023
835
MLT021 Multiple System Atrophy 73 0.023
836
P HYP035 Hypophosphatasia 73 0.023
837
CFF002 Coffin-Lowry Syndrome 73 0.023
838
P PRM006 Primary Biliary Cirrhosis 72 0.023
839
P CNG368 Congenital Adrenal Hyperplasia 72 0.023
840
P EPD002 Epidermolytic Hyperkeratosis 72 0.023
841
RLP001 Relapsing Polychondritis 72 0.023
842
c HYP095 Hypercholesterolemia 72 0.023
843
P MYS005 Myositis 71 0.023
844
c GLY028 Glycogen Storage Disease Type 1a 71 0.023
845
CHR029 Choroid Plexus Papilloma 71 0.023
846
NLP001 Nail-Patella Syndrome 70 0.023
847
DNY001 Denys-Drash Syndrome 70 0.023
848
P MCH002 Machado-Joseph Disease 70 0.023
849
c JBR001 Joubert Syndrome 69 0.023
850
RNL002 Renal Agenesis 69 0.023
851
HYP042 Hypochondroplasia 69 0.023
852
NRL016 Neural Tube Defects 69 0.023
853
c ACT074 Acute Lymphocytic Leukemia 69 0.023
854
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.023
855
SHW002 Shwachman-Diamond Syndrome 69 0.023
856
P PNC025 Panic Disorder 69 0.023
857
PSD012 Pseudoachondroplasia 69 0.023
858
P ESS001 Essential Tremor 69 0.023
859
KLP002 Klippel-Trenaunay Syndrome 69 0.023
860
P FML032 Familial Hypertrophic Cardiomyopathy 68 0.023
861
P PRG006 Progressive Supranuclear Palsy 68 0.023
862
P MLG068 Malignant Glioma 68 0.023
863
P THY023 Thymoma 68 0.023
864
P HYP117 Hypertriglyceridemia 67 0.023
865
HYP020 Hyperprolactinemia 67 0.023
866
FLL032 Follicular Thyroid Carcinoma 67 0.023
867
CRY005 Cryptococcosis 67 0.023
868
c MNN013 Meningitis 67 0.023
869
MRB003 Morbid Obesity 67 0.023
870
P DGR001 Digeorge Syndrome 67 0.023
871
P BLD042 Bladder Carcinoma 67 0.023
872
PST028 Post-Traumatic Stress Disorder 67 0.023
873
DBT001 Diabetic Ketoacidosis 67 0.023
874
VRG001 Variegate Porphyria 67 0.023
875
THR079 Thromboembolism 67 0.023
876
PLS006 Plasmodium Vivax Malaria 66 0.023
877
PBL001 Piebaldism 66 0.023
878
BRT005 Barth Syndrome 66 0.023
879
P ATP001 Atopic Dermatitis 66 0.023
880
P OST009 Osteochondritis Dissecans 66 0.023
881
P THR015 Thrombophilia 66 0.023
882
CST001 Costello Syndrome 66 0.023
883
P BSL007 Basal Cell Carcinoma 66 0.023
884
RHM001 Rheumatic Fever 66 0.023
885
P VLC001 Velocardiofacial Syndrome 66 0.023
886
MLG056 Malignant Hyperthermia 65 0.023
887
P GT001 Gout 65 0.023
888
STR008 Strongyloidiasis 65 0.023
889
CHR103 Charge Syndrome 65 0.023
890
P GST044 Gastritis 65 0.023
891
CHR066 Chronic Fatigue Syndrome 65 0.023
892
P ATY010 Atypical Hemolytic-Uremic Syndrome 65 0.023
893
CMM005 Common Cold 65 0.023
894
P DYS007 Dyskeratosis Congenita 65 0.023
895
SHG001 Shigellosis 64 0.023
896
OCL008 Oculopharyngeal Muscular Dystrophy 64 0.023
897
IRR002 Irritable Bowel Syndrome 64 0.023
898
P ALP009 Alopecia Areata 64 0.023
899
P PRT010 Parathyroid Carcinoma 64 0.023
900
CRB037 Cerebral Palsy 64 0.023
901
c MCP010 Mucopolysaccharidosis 63 0.023
902
BRR003 Barrett's Esophagus 63 0.023
903
CRY002 Cryptorchidism 63 0.023
904
P CNG042 Congenital Central Hypoventilation Syndrome 63 0.023
905
c CCK001 Cockayne Syndrome 63 0.023
906
P KRT004 Keratitis 63 0.023
907
MTC007 Mitochondrial Complex I Deficiency 63 0.023
908
P OLG002 Oligodendroglioma 62 0.023
909
DYS026 Dysfibrinogenemia 62 0.023
910
ARC007 Arachnoid Cysts 62 0.023
911
PSR002 Psoriasis 62 0.023
912
c ERY009 Erythropoietic Protoporphyria 62 0.023
913
ALP003 Alpers Syndrome 62 0.023
914
P RBL001 Rubella 62 0.023
915
DFC004 Deficiency Anemia 62 0.023
916
CRN036 Craniopharyngioma 62 0.023
917
SCL003 Social Phobia 62 0.023
918
c MCP001 Mucopolysaccharidosis Iii 61 0.023
919
SCK005 Sickle Cell Disease 61 0.023
920
c HYP051 Hypokalemic Periodic Paralysis 61 0.023
921
P MYT006 Myotonic Dystrophy Type 1 61 0.023
922
HMR004 Hemorrhagic Fever with Renal Syndrome 61 0.023
923
PTT006 Pituitary Adenoma 61 0.023
924
c AGM001 Agammaglobulinemia 61 0.023
925
LCH002 Lichen Planus 61 0.023
926
TST014 Testicular Cancer 61 0.023
927
c ESS003 Essential Thrombocythemia 61 0.023
928
P CRV035 Cervical Cancer 60 0.023
929
GNG013 Gingivitis 60 0.023
930
ASP003 Aseptic Meningitis 60 0.023
931
c HYP050 Hyperinsulinemic Hypoglycemia 60 0.023
932
WGR001 Wagr Syndrome 60 0.023
933
NRL004 Neuroleptic Malignant Syndrome 60 0.023
934
P CTR001 Citrullinemia 60 0.023
935
P RTN025 Retinoschisis 60 0.023
936
GLS001 Gliosarcoma 60 0.023
937
RST001 Restless Legs Syndrome 60 0.023
938
VTL002 Vitiligo 60 0.023
939
P HMC002 Homocystinuria 59 0.023
940
OLG003 Oligohydramnios 59 0.023
941
ANG020 Angiosarcoma 59 0.023
942
TWN003 Townes-Brocks Syndrome 59 0.023
943
PTH002 Pathological Gambling 59 0.023
944
c DMN001 Diamond-Blackfan Anemia 59 0.023
945
c LRY016 Laryngeal Carcinoma 59 0.023
946
c HMP002 Hemophagocytic Lymphohistiocytosis 59 0.023
947
KRT001 Keratoconjunctivitis Sicca 59 0.023
948
P SYN007 Synovitis 59 0.023
949
SPN020 Spondylosis 59 0.023
950
P MTR005 Mitral Valve Prolapse 59 0.023
951
NRC020 Neuroectodermal Tumor 59 0.023
952
P PPL020 Papillary Thyroid Carcinoma 59 0.023
953
PMP001 Pemphigus 59 0.023
954
OST014 Osteopoikilosis 59 0.023
955
CNR002 Cone-Rod Dystrophy 59 0.023
956
c ACT075 Acute Myocardial Infarction 59 0.023
957
P DNT039 Dent's Disease 59 0.023
958
MGC001 Megacolon 59 0.023
959
c OPN001 Open-Angle Glaucoma 59 0.023
960
P ICH001 Ichthyosis Vulgaris 59 0.023
961
c SLP006 Sleep Apnea 59 0.023
962
c HPT003 Hepatitis a 58 0.023
963
c MTH007 Methemoglobinemia 58 0.023
964
MRG003 Marginal Zone B-Cell Lymphoma 58 0.023
965
EYD002 Eye Disease 58 0.023
966
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 58 0.023
967
HRY003 Hairy Cell Leukemia 58 0.023
968
AMN001 Amenorrhea 58 0.023
969
c THR005 Thrombotic Thrombocytopenic Purpura 58 0.023
970
CHL068 Cholestasis 58 0.023
971
ISC006 Ischemic Heart Disease 58 0.023
972
KDS001 Kid Syndrome 58 0.023
973
ANT011 Antisocial Personality Disorder 58 0.023
974
CND002 Conduct Disorder 58 0.023
975
CRY004 Cryoglobulinemia 58 0.023
976
P PRS038 Personality Disorder 58 0.023
977
TMP001 Temporal Lobe Epilepsy 58 0.023
978
c BRG001 Brugada Syndrome 58 0.023
979
OST017 Osteomyelitis 58 0.023
980
CNN005 Connective Tissue Disease 58 0.023
981
c TRC011 Treacher Collins Syndrome 57 0.023
982
CPL006 Capillary Hemangioma 57 0.023
983
ESP020 Esophageal Atresia 57 0.023
984
P PRV002 Periventricular Nodular Heterotopia 57 0.023
985
GNR004 Generalized Anxiety Disorder 57 0.023
986
RBS001 Rabies 57 0.023
987
NRH001 Neurohypophyseal Diabetes Insipidus 57 0.023
988
ACN011 Acne 57 0.023
989
P ATR001 Atrioventricular Septal Defect 57 0.023
990
THY033 Thyrotoxicosis 57 0.023
991
c HRD002 Hereditary Angioedema 57 0.023
992
c HYP097 Hyperekplexia 57 0.023
993
BRN071 Brain Injury 57 0.023
994
c CNG025 Congenital Disorder of Glycosylation 57 0.023
995
IRN001 Iron Deficiency Anemia 56 0.023
996
TNS005 Tonsillitis 56 0.023
997
c SPN068 Spinocerebellar Ataxia Type 6 56 0.023
998
NTR003 Natural Killer Cell Leukemia 56 0.023
999
P RTN022 Retinal Vein Occlusion 56 0.023
1000
ATT002 Attention Deficit Hyperactivity Disorder 56 0.023
1001
P END033 Endocarditis 56 0.023
1002
P ESN001 Eosinophilic Esophagitis 56 0.023
1003
MGK001 Megakaryocytic Leukemia 56 0.023
1004
RNL007 Renal Tubular Acidosis 56 0.023
1005
PYD001 Pyoderma Gangrenosum 56 0.023
1006
LDP002 Lead Poisoning 56 0.023
1007
c KBK001 Kabuki Syndrome 56 0.023
1008
MCR088 Microscopic Polyangiitis 56 0.023
1009
PRD007 Periodontal Disease 56 0.023
1010
MNL001 Monilethrix 56 0.023
1011
P PMP005 Pemphigus Vulgaris 55 0.023
1012
PRT011 Protein C Deficiency 55 0.023
1013
P BTM001 Beta-Mannosidosis 55 0.023
1014
P EHL049 Ehlers-Danlos Syndrome Classical Type 55 0.023
1015
ANR018 Anorchia 55 0.023
1016
ART017 Aortic Disease 55 0.023
1017
SSN001 Seasonal Affective Disorder 55 0.023
1018
TRP002 Tropical Spastic Paraparesis 55 0.023
1019
P KLP003 Klippel-Feil Syndrome 55 0.023
1020
P TMT001 Timothy Syndrome 55 0.023
1021
TLP001 Talipes Equinovarus 55 0.023
1022
VND002 Van Der Woude Syndrome 55 0.023
1023
c TRM003 Tremor 55 0.023
1024
c RBN002 Robinow Syndrome 55 0.023
1025
SPR004 Supravalvular Aortic Stenosis 54 0.023
1026
VNS010 Venous Thromboembolism 54 0.023
1027
HMM003 Hemimegalencephaly 54 0.023
1028
ADR008 Adrenal Adenoma 54 0.023
1029
INT002 Intermittent Claudication 54 0.023
1030
MGR001 Migraine Without Aura 54 0.023
1031
c DNT011 Dentinogenesis Imperfecta 54 0.023
1032
P PND001 Pain Disorder 54 0.023
1033
P ZLL001 Zellweger Syndrome 54 0.023
1034
PRM003 Premature Ejaculation 54 0.023
1035
ASP001 Asperger Syndrome 54 0.023
1036
CCN001 Cocaine Dependence 54 0.023
1037
MYL001 Myelitis 54 0.023
1038
PRT018 Portal Vein Thrombosis 54 0.023
1039
c PSD015 Pseudohypoparathyroidism 54 0.023
1040
RGD001 Rigid Spine Syndrome 54 0.023
1041
P ALP014 Alpha-Thalassemia/mental Retardation Syndrome 54 0.023
1042
CHL069 Cholesteatoma 54 0.023
1043
WLL001 Williams-Beuren Syndrome 54 0.023
1044
PLY012 Polyhydramnios 54 0.023
1045
MLN007 Male Infertility 53 0.023
1046
P VNT002 Ventricular Septal Defect 53 0.023
1047
c ADN012 Adenocarcinoma in Situ 53 0.023
1048
c ANT034 Anterior Uveitis 53 0.023
1049
P BNG046 Benign Hereditary Chorea 53 0.023
1050
PRS023 Pearson Syndrome 53 0.023
1051
c ACT134 Acute Liver Failure 53 0.023
1052
P RPP002 Rippling Muscle Disease 53 0.023
1053
TRM010 Traumatic Brain Injury 53 0.023
1054
EHR002 Ehrlichiosis 53 0.023
1055
P HRD007 Hereditary Lymphedema 53 0.023
1056
c TYR003 Tyrosinemia Type Ii 53 0.023
1057
P FML075 Familial Isolated Hyperparathyroidism 53 0.023
1058
SPT004 Septic Arthritis 53 0.023
1059
P PLM006 Pulmonary Alveolar Proteinosis 52 0.023
1060
P ORT004 Orthostatic Intolerance 52 0.023
1061
WLK001 Walker-Warburg Syndrome 52 0.023
1062
GYR001 Gyrate Atrophy 52 0.023
1063
LPS007 Lupus Nephritis 52 0.023
1064
INT066 Interstitial Lung Disease 52 0.023
1065
P HYP027 Hypobetalipoproteinemia 52 0.023
1066
PTT008 Pituitary Carcinoma 52 0.023
1067
c LKD001 Leukodystrophy 52 0.023
1068
STN007 Stenotrophomonas Maltophilia 52 0.023
1069
VHW001 Vohwinkel Syndrome 52 0.023
1070
OST011 Osteomalacia 52 0.023
1071
GLC037 Glucocorticoid Resistance 52 0.023
1072
c HPT007 Hepatitis E 52 0.023
1073
RSD004 Rosai-Dorfman Disease 52 0.023
1074
OBS006 Obstructive Lung Disease 52 0.023
1075
c CNT048 Central Hypoventilation Syndrome 52 0.023
1076
c HYD002 Hydronephrosis 52 0.023
1077
c SPN183 Spontaneous Pneumothorax 52 0.023
1078
ACS001 Acoustic Neuroma 51 0.023
1079
FRZ001 Frozen Shoulder 51 0.023
1080
ANG002 Angiostrongyliasis 51 0.023
1081
DYS073 Dysphagia 51 0.023
1082
WGN003 Wagner Syndrome 51 0.023
1083
CHN016 Cohen Syndrome 51 0.023
1084
MLK003 Melkersson-Rosenthal Syndrome 51 0.023
1085
c CHR130 Charcot-Marie-Tooth Disease Type 1b 51 0.023
1086
ALC009 Alcoholic Liver Cirrhosis 51 0.023
1087
PRM028 Paramyotonia Congenita 51 0.023
1088
P ALC004 Alcohol Abuse 51 0.023
1089
CLP001 Calpainopathy 51 0.023
1090
HJD001 Hajdu-Cheney Syndrome 51 0.023
1091
MNN014 Mononeuritis 51 0.023
1092
P JRV001 Jervell-Lange Nielsen Syndrome 51 0.023
1093
AGR002 Agoraphobia 50 0.023
1094
P LYD001 Leydig Cell Tumor 50 0.023
1095
c PRM051 Primary Pigmented Nodular Adrenocortical Disease 50 0.023
1096
XLN010 X-Linked Adrenal Hypoplasia Congenita 50 0.023
1097
MMR004 Memory Impairment 50 0.023
1098
P HRD092 Hereditary Diffuse Leukoencephalopathy with Spheroids 50 0.023
1099
MYP001 Myoepithelioma 50 0.023
1100
CCN002 Cocaine Abuse 50 0.023
1101
c SYN001 Syndactyly 50 0.023
1102
EPS023 Epstein-Barr Virus-Associated Gastric Carcinoma 50 0.023
1103
c NNT009 Neonatal Diabetes Mellitus 50 0.023
1104
SYN006 Synovial Sarcoma 50 0.023
1105
c EPS003 Episodic Ataxia 50 0.023
1106
NNT024 Neonatal Stroke 50 0.023
1107
CLS010 Cluster Headache 50 0.023
1108
c CNG018 Congenital Heart Block 50 0.023
1109
XNT003 Xanthomatosis 50 0.023
1110
PRT026 Parotitis 49 0.023
1111
GRM009 Germ Cell Tumors 49 0.023
1112
GNT031 Genitopatellar Syndrome 49 0.023
1113
MYC013 Mycobacterium Abscessus 49 0.023
1114
ACT200 Acute Monoblastic Leukemia 49 0.023
1115
PNM008 Pneumothorax 49 0.023
1116
P TRC085 Trichorhinophalangeal Syndrome Type Ii 49 0.023
1117
P WRD005 Waardenburg Syndrome Type I 49 0.023
1118
HDR006 Hidradenocarcinoma 49 0.023
1119
CTS002 Cat-Scratch Disease 49 0.023
1120
FBR047 Fibromyalgia 49 0.023
1121
P ACH008 Achondrogenesis Type Ia 49 0.023
1122
DNG002 Dengue Hemorrhagic Fever 49 0.023
1123
OLG006 Oligoastrocytoma 49 0.023
1124
CRN006 Coronary Aneurysm 49 0.023
1125
SPN119 Spondylarthropathy 49 0.023
1126
BCT015 Bacteremia 49 0.023
1127
THY022 Thymic Carcinoma 49 0.023
1128
SMN007 Seminoma 49 0.023
1129
LKM001 Leukemoid Reaction 48 0.023
1130
PLS016 Plasma Cell Leukemia 48 0.023
1131
RTN018 Retinal Disease 48 0.023
1132
c BNG032 Benign Mesothelioma 48 0.023
1133
MST005 Mastitis 48 0.023
1134
FCL022 Focal Dystonia 48 0.023
1135
TRC040 Tracheoesophageal Fistula 48 0.023
1136
RNL077 Renal Fibrosis 48 0.023
1137
NCT002 Nicotine Dependence 48 0.023
1138
ACT087 Acth Deficiency 48 0.023
1139
VCC001 Vaccinia 48 0.023
1140
MLN003 Melancholia 48 0.023
1141
PLM010 Pulmonary Edema 48 0.023
1142
c NGH001 Night Blindness 48 0.023
1143
PTT001 Pituitary Hypoplasia 48 0.023
1144
SBS004 Substance Dependence 48 0.023
1145
P PNC001 Pancytopenia 48 0.023
1146
NSP002 Nasopharyngitis 48 0.023
1147
BRN014 Bronchopneumonia 47 0.023
1148
STR001 Striatonigral Degeneration 47 0.023
1149
CRT063 Creatine Transporter Deficiency 47 0.023
1150
P HYP111 Hyperprolinemia 47 0.023
1151
LYM008 Lymphangiosarcoma 47 0.023
1152
P MXD016 Mixed Gonadal Dysgenesis 47 0.023
1153
c PRN026 Porencephaly 47 0.023
1154
HTR003 Heterotaxy 47 0.023
1155
c GNR002 Generalized Epilepsy with Febrile Seizures Plus 47 0.023
1156
P ATR066 Atrial Septal Defect 2 47 0.023
1157
DBT061 Diabetic Nephropathy 47 0.023
1158
c SHR030 Short Qt Syndrome 47 0.023
1159
P TRN034 Transverse Myelitis 46 0.023
1160
P FNG005 Feingold Syndrome 46 0.023
1161
BRD004 Borderline Personality Disorder 46 0.023
1162
P ATN005 Autonomic Dysfunction 46 0.023
1163
SPL004 Splenic Marginal Zone Lymphoma 46 0.023
1164
FCL014 Focal Epilepsy 46 0.023
1165
RLP002 Relapsing-Remitting Multiple Sclerosis 46 0.023
1166
TRC012 Trichuriasis 46 0.023
1167
c TRN032 Transient Neonatal Diabetes Mellitus 46 0.023
1168
MYK002 Myokymia 46 0.023
1169
DLS001 Delusional Disorder 46 0.023
1170
HYP064 Hypogonadotropism 46 0.023
1171
c ADL017 Adult T-Cell Leukemia 45 0.023
1172
NRM004 Neuroma 45 0.023
1173
LKP003 Leukoplakia 45 0.023
1174
BRN013 Bronchiolitis Obliterans Organizing Pneumonia 45 0.023
1175
c FML169 Familial Osteochondritis Dissecans 45 0.023
1176
CRN025 Corneal Dystrophy 45 0.023
1177
HMN016 Hemangioendothelioma 45 0.023
1178
HRN003 Heroin Dependence 45 0.023
1179
c HYP052 Hyperkalemic Periodic Paralysis 45 0.023
1180
BLT001 Bilateral Retinoblastoma 45 0.023
1181
ACT012 Acute Hemorrhagic Conjunctivitis 45 0.023
1182
P HMG003 Hemoglobin E Disease 45 0.023
1183
LYM029 Lymphedema-Distichiasis Syndrome 45 0.023
1184
INF034 Infective Endocarditis 44 0.023
1185
P IRD010 Iridogoniodysgenesis Syndrome 44 0.023
1186
ARC002 Arachnoiditis 44 0.023
1187
c FTL001 Fetal Alcohol Syndrome 44 0.023
1188
SYD001 Sydenham's Chorea 44 0.023
1189
c RTN016 Retinal Degeneration 44 0.023
1190
c HYP263 Hypersomnia 44 0.023
1191
SCH024 Schinzel Giedion Syndrome 44 0.023
1192