Search results for "DES"

1459 hits were found for 'DES'

# Family MCID Name MIFTS Score
1
c CRN015 Cornelia De Lange Syndrome 53 7.258
2
GLL008 Gilles De La Tourette Syndrome 71 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 35 4.234
8
P MYP004 Myopathy 62 4.098
9
MLD004 Mal De Debarquement 22 4.097
10
DBR002 De Barsy Syndrome 23 4.022
11
DSN001 De Sanctis-Cacchione Syndrome 24 4.007
12
SPT014 Septo-Optic Dysplasia 69 3.991
13
GRB001 Grubben De Cock Borghgraef Syndrome 18 3.613
14
DHW001 De Hauwere Syndrome 25 3.588
15
P DLT002 Dilated Cardiomyopathy 88 3.499
16
c MYP072 Myopathy, Myofibrillar, 1 22 3.459
17
P CRN139 Cornelia De Lange Syndrome 1 48 3.303
18
P CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37 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 29 3.211
22
SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 20 3.158
23
P LPS002 Liposarcoma 60 2.870
24
DSM004 Desmoid Tumor 69 2.845
25
P CHN012 Chondrosarcoma 63 2.845
26
P GNT008 Giant Cell Tumor 58 2.845
27
P GST019 Gastrointestinal Stromal Tumor 83 2.835
28
P LYM007 Lymphangioleiomyomatosis 74 2.835
29
LMY002 Leiomyoma 69 2.835
30
CHR072 Chordoma 66 2.835
31
FBR003 Fibrous Histiocytoma 55 2.835
32
HST009 Histiocytoma 55 2.835
33
ANG018 Angiomyolipoma 52 2.835
34
SMT002 Smooth Muscle Tumor 46 2.835
35
LPM004 Lipoma 65 2.824
36
P LMY004 Leiomyosarcoma 62 2.824
37
P HMN013 Hemangiopericytoma 55 2.824
38
P GRN010 Granular Cell Tumor 54 2.824
39
ADN020 Adenosarcoma 53 2.824
40
RHB017 Rhabdoid Tumor 51 2.824
41
FBR019 Fibromatosis 47 2.824
42
FBR054 Fibroma 47 2.824
43
FSC004 Fasciitis 46 2.824
44
c INF049 Infantile Myofibromatosis 44 2.824
45
P SRT002 Sertoli Cell Tumor 41 2.824
46
DTH005 Diethylstilbestrol Syndrome 15 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 11 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 CRN215 Cornelia De Lange Syndrome 4 10 2.772
53
c CRN135 Cornelia De Lange Syndrome 3 9 2.772
54
MRF010 Marfanoid Syndrome, De Silva Type 6 2.772
55
LNR005 Linear Scleroderma 25 2.492
56
c MSC095 Muscular Dystrophy, Limb-Girdle, Type 2r 18 2.446
57
c CRD111 Cardiomyopathy, Dilated, 1i 11 2.446
58
c CRN134 Cornelia De Lange Syndrome 2 15 2.311
59
TNF002 Toni-Fanconi Syndrome 9 2.311
60
P KLL001 Kallmann Syndrome 57 2.290
61
DYS036 Dysequilibrium Syndrome 33 2.278
62
NNR006 Non-Eruption of Teeth - Maxillary Hypoplasia - Genu Valgum 16 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 47 2.263
70
IVC001 Ivic Syndrome 28 2.263
71
GLT018 Glut1 Deficiency Syndrome 1 22 2.263
72
DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 18 2.263
73
CLF019 Cleft Palate Short Stature Vertebral Anomalies 14 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 48 2.035
82
P MDL005 Medulloblastoma 80 2.024
83
P ALX003 Alexander Disease 76 2.024
84
CVR006 Cavernous Hemangioma 59 2.024
85
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 56 2.024
86
SLT008 Solitary Fibrous Tumor 55 2.024
87
PYL006 Pyloric Stenosis 50 2.024
88
CRT008 Carotid Artery Dissection 48 2.024
89
c MLG067 Malignant Giant Cell Tumor 36 2.024
90
P CNT004 Centronuclear Myopathy 63 2.012
91
FBR032 Fibromuscular Dysplasia 60 2.012
92
END031 Endometrial Stromal Sarcoma 54 2.012
93
c RST002 Restrictive Cardiomyopathy 53 2.012
94
NNT016 Neonatal Hemochromatosis 48 2.012
95
UTR043 Uterine Sarcoma 45 2.012
96
INT020 Intravenous Leiomyomatosis 38 2.012
97
DRM014 Dermatofibrosarcoma Protuberans 68 1.997
98
PRP025 Peripheral Primitive Neuroectodermal Tumor 65 1.997
99
MYX005 Myxoid Liposarcoma 59 1.997
100
ALV005 Alveolar Soft Part Sarcoma 57 1.997
101
P SYR003 Syringoma 55 1.997
102
P MSN005 Mesenchymal Chondrosarcoma 54 1.997
103
DSM007 Desmoplastic Small Round Cell Tumor 54 1.997
104
c CRD162 Cardiomyopathy, Dilated, 1ii 53 1.997
105
ADN014 Adenomatoid Tumor 52 1.997
106
CHL052 Choledochal Cyst 51 1.997
107
DYS032 Dystrophinopathies 51 1.997
108
CRN055 Carney Triad 50 1.997
109
INF058 Inflammatory Myofibroblastic Tumor 50 1.997
110
P PLM030 Pleomorphic Rhabdomyosarcoma 49 1.997
111
P BNG071 Benign Schwannoma 49 1.997
112
EMB007 Embryonal Sarcoma 49 1.997
113
P EMB005 Embryonal Rhabdomyosarcoma 49 1.997
114
BLD033 Bile Duct Adenoma 49 1.997
115
c EPL003 Epulis 47 1.997
116
SPN006 Spindle Cell Lipoma 47 1.997
117
P BTR001 Botryoid Rhabdomyosarcoma 47 1.997
118
TNS001 Tenosynovial Giant Cell Tumor 47 1.997
119
P CYS007 Cystic Nephroma 46 1.997
120
BNG041 Benign Metastasizing Leiomyoma 45 1.997
121
MLN057 Melanoma of Soft Parts 45 1.997
122
HPT006 Hepatic Angiomyolipoma 45 1.997
123
MYX013 Myxofibrosarcoma 45 1.997
124
P CLR017 Clear Cell Sarcoma 45 1.997
125
EPT011 Epithelioid Leiomyosarcoma 44 1.997
126
END043 Endometrial Stromal Tumor 43 1.997
127
SRC001 Sarcomatoid Mesothelioma 43 1.997
128
P OVR058 Ovarian Small Cell Carcinoma 43 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 42 1.997
134
CTN012 Cutaneous Leiomyosarcoma 42 1.997
135
PLM068 Pulmonary Vein Stenosis 41 1.997
136
INF046 Infantile Digital Fibromatosis 38 1.997
137
LYM095 Lymphangiomatosis 38 1.997
138
RTR007 Retroperitoneal Leiomyosarcoma 37 1.997
139
CLL005 Cellular Leiomyoma 36 1.997
140
PRC011 Parachordoma 35 1.997
141
TST037 Testicular Sex Cord-Stromal Tumor 34 1.997
142
GST036 Gastric Leiomyosarcoma 33 1.997
143
MLG018 Malignant Giant Cell Tumor of Soft Parts 31 1.997
144
SPH012 Spheroid Body Myopathy 29 1.997
145
SPN009 Spindle Cell Rhabdomyosarcoma 29 1.997
146
FBR001 Fibrous Meningioma 29 1.997
147
CYT006 Cytoplasmic Body Myopathy 28 1.997
148
LRG003 Large Cell Medulloblastoma 27 1.997
149
SPN048 Spindle Cell Thymoma 27 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 46 1.769
155
TRN001 Transthyretin Amyloidosis 62 1.634
156
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 20 1.634
157
18Q002 18q Deletion Syndrome 36 1.619
158
P MNS007 Monosomy 18p 29 1.619
159
ULN014 Ulnar Hemimelia 12 1.619
160
SYM014 Symbrachydactyly of Hands and Feet 11 1.619
161
CFF003 Caffey Disease 51 1.600
162
46X029 46xx Sex Reversal 1 43 1.600
163
FHR001 Fuhrmann Syndrome 31 1.600
164
SPR031 Sprengel Deformity 23 1.600
165
VRL015 Verloes Van Maldergem Marneffe Syndrome 19 1.600
166
NRS006 Norse 18 1.600
167
OCL057 Oculotrichodysplasia 14 1.600
168
ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 10 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 13 1.412
174
P LKM002 Leukemia 77 0.311
175
c MYL006 Myeloid Leukemia 75 0.236
176
P ACT019 Acute Myeloid Leukemia 93 0.234
177
MNT147 Mental Retardation 52 0.167
178
c SCL016 Scleroderma 65 0.165
179
c HPT021 Hepatitis 64 0.159
180
HPT023 Hepatocellular Carcinoma 54 0.157
181
c THY032 Thyroiditis 66 0.154
182
c LNG028 Long Qt Syndrome 65 0.137
183
P BCL006 B-Cell Lymphomas 57 0.125
184
MYL040 Myelodysplastic Syndromes 81 0.123
185
END072 Endotheliitis 51 0.119
186
DFF005 Diffuse Large B-Cell Lymphoma 56 0.115
187
P BRS047 Breast Cancer 86 0.112
188
P ADN016 Adenocarcinoma 59 0.112
189
P GLM007 Glomerulonephritis 69 0.110
190
SPR010 Sporotrichosis 53 0.110
191
CRB009 Cerebritis 39 0.110
192
PRS047 Prostatitis 60 0.105
193
MCR010 Microcephaly 53 0.105
194
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 42 0.102
195
NRP001 Neuropathy 62 0.100
196
SRC014 Sarcoma 70 0.094
197
c DYS154 Dystonia 61 0.094
198
c ATM011 Autoimmune Hepatitis 61 0.094
199
c ATX004 Ataxia 59 0.094
200
c MSC005 Muscular Dystrophy 62 0.092
201
c MLT074 Multiple Endocrine Neoplasia 61 0.092
202
P PRK002 Parkinson's Disease 93 0.089
203
P HYP075 Hypertension 87 0.089
204
P SHR002 Short Stature 68 0.089
205
P GLB002 Glioblastoma 58 0.089
206
EPD016 Epidermolysis Bullosa 58 0.089
207
ANR040 Aneurysm 46 0.089
208
HYP005 Hypokalemia 50 0.086
209
CVR010 Cavernous Malformation 36 0.086
210
HDG007 Hodgkin's Lymphoma 93 0.083
211
ADN018 Adenoma 66 0.083
212
P CRV039 Cervicitis 58 0.083
213
NRN002 Neuronitis 44 0.083
214
SYN053 Syndromic Diarrhea 34 0.083
215
MMB002 Membranous Glomerulonephritis 53 0.079
216
HYP265 Hypotonia 41 0.079
217
P SCH015 Schizophrenia 82 0.076
218
P CHR071 Charcot-Marie-Tooth Disease 72 0.076
219
P ANG001 Angelman Syndrome 70 0.076
220
c HPT016 Hepatitis B 70 0.076
221
c ACT073 Acute Leukemia 57 0.076
222
TTH006 Tooth Disease 56 0.076
223
RTN023 Retinitis 54 0.076
224
P FLL037 Follicular Lymphoma 48 0.076
225
KRT012 Keratoderma 46 0.076
226
P MYC007 Myocardial Infarction 93 0.072
227
P LNG032 Lung Cancer 79 0.072
228
OBS002 Obsessive-Compulsive Disorder 73 0.072
229
P HPT001 Hepatitis C 67 0.072
230
ZLL002 Zollinger-Ellison Syndrome 66 0.072
231
P MLN008 Melanoma 65 0.072
232
c HYP069 Hyperparathyroidism 65 0.072
233
CLR003 Clear Cell Adenocarcinoma 53 0.072
234
THR013 Thoracic Outlet Syndrome 52 0.072
235
ECT006 Ectodermal Dysplasia 49 0.072
236
P ART022 Arthritis 75 0.069
237
P MGR002 Migraine 70 0.069
238
c HLP001 Holoprosencephaly 64 0.069
239
ANR002 Aniridia 62 0.069
240
P ATS007 Autism Spectrum Disorder 59 0.069
241
c LYM026 Lymphoblastic Leukemia 57 0.069
242
P FML011 Familial Adenomatous Polyposis 89 0.065
243
VNH001 Von Hippel-Lindau Disease 81 0.065
244
P LPR003 Leprosy 78 0.065
245
LSC001 Lesch-Nyhan Syndrome 78 0.065
246
P PNM007 Pneumonia 78 0.065
247
P RBN001 Rubinstein-Taybi Syndrome 76 0.065
248
LSH001 Leishmaniasis 74 0.065
249
c PNC044 Pancreatitis 69 0.065
250
ACT119 Acute Promyelocytic Leukemia 68 0.065
251
c AMY001 Amyotrophic Lateral Sclerosis 67 0.065
252
c HYP061 Hypertrophic Cardiomyopathy 65 0.065
253
c KDN018 Kidney Disease 63 0.065
254
P ACT101 Acute Lymphoblastic Leukemia 63 0.065
255
WLF002 Wolf-Hirschhorn Syndrome 61 0.065
256
P MYC008 Myocarditis 58 0.065
257
PRT039 Proteinuria 58 0.065
258
c CTR002 Cataract 57 0.065
259
P INT030 Intracranial Aneurysm 56 0.065
260
c CHR285 Chronic Myelomonocytic Leukemia 56 0.065
261
c DRR001 Diarrhea 52 0.065
262
c HMP006 Hemiplegic Migraine 51 0.065
263
GST053 Gastric Cancer 38 0.065
264
SPS057 Spasticity 38 0.065
265
c MNS008 Monosomy 21 32 0.065
266
CYT019 Cytogenetically Normal Acute Myeloid Leukemia 29 0.065
267
P PRS040 Prostate Cancer 98 0.061
268
P RHM011 Rheumatoid Arthritis 94 0.061
269
AND002 Androgen Insensitivity Syndrome 80 0.061
270
c NNN003 Noonan Syndrome 80 0.061
271
PRT036 Peritonitis 72 0.061
272
c CRN037 Craniosynostosis 70 0.061
273
P PRM019 Premature Ovarian Failure 66 0.061
274
MNT001 Mantle Cell Lymphoma 64 0.061
275
P RNL014 Renal Cell Carcinoma 64 0.061
276
P ESP024 Esophagitis 64 0.061
277
ACN002 Acanthosis Nigricans 63 0.061
278
ART005 Arteriovenous Malformation 63 0.061
279
c LCL006 Localized Scleroderma 59 0.061
280
c CNG015 Congenital Diaphragmatic Hernia 59 0.061
281
P HMR012 Hemorrhagic Fever 58 0.061
282
P DWR001 Dwarfism 55 0.061
283
LPT001 Leptospirosis 54 0.061
284
P CLF002 Cleft Palate 52 0.061
285
c VSC005 Vesicoureteral Reflux 51 0.061
286
CRN030 Coronary Stenosis 43 0.061
287
P ATX010 Ataxia Neuropathy Spectrum 43 0.061
288
HMT018 Hematopoietic Stem Cell Transplantation 41 0.061
289
P OBS005 Obesity 91 0.056
290
TBR010 Tuberculosis 87 0.056
291
KPS001 Kaposi's Sarcoma 87 0.056
292
P RTT002 Rett Syndrome 83 0.056
293
ADR007 Adrenoleukodystrophy 78 0.056
294
c PRM002 Primary Hyperoxaluria 74 0.056
295
c THL005 Thalassemia 72 0.056
296
ACQ007 Acquired Immunodeficiency Syndrome 71 0.056
297
ATS001 Autistic Disorder 71 0.056
298
c THR014 Thrombocytopenia 71 0.056
299
P NRB001 Neuroblastoma 70 0.056
300
P WLM002 Wilms Tumor 66 0.056
301
P CLN016 Colon Cancer 65 0.056
302
ART019 Aortic Valve Stenosis 64 0.056
303
c NTR004 Neutropenia 64 0.056
304
c CHR129 Charcot-Marie-Tooth Disease Type 1a 64 0.056
305
LRN003 Learning Disability 63 0.056
306
VGN023 Vaginitis 63 0.056
307
HYD012 Hydrops Fetalis 62 0.056
308
c AMY077 Amyotrophic Lateral Sclerosis Type 18 60 0.056
309
CLF001 Cleft Lip 60 0.056
310
MYC002 Mycobacterium Avium Complex Disease 59 0.056
311
HYP266 Hypoxia 58 0.056
312
SNS001 Sensorineural Hearing Loss 57 0.056
313
P AMY074 Amyotrophic Lateral Sclerosis Type 14 56 0.056
314
P GND004 Gonadal Dysgenesis 51 0.056
315
TCD001 Tic Disorder 49 0.056
316
GRM004 Germinoma 45 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 78 0.051
323
ANK002 Ankylosing Spondylitis 77 0.051
324
P MLR004 Malaria 75 0.051
325
P PRM005 Primary Hyperparathyroidism 71 0.051
326
P LVR013 Liver Disease 69 0.051
327
P RCK004 Rickets 68 0.051
328
P HYD006 Hydrocephalus 68 0.051
329
c AXN002 Axenfeld-Rieger Syndrome 67 0.051
330
P HRD011 Hereditary Spherocytosis 67 0.051
331
P TRN020 Turner Syndrome 67 0.051
332
STT001 Status Epilepticus 66 0.051
333
c XRD001 Xeroderma Pigmentosum 66 0.051
334
HYP013 Hypohidrotic Ectodermal Dysplasia 63 0.051
335
c MYL007 Myeloma 61 0.051
336
RHB003 Rhabdomyosarcoma 59 0.051
337
P PLY006 Polydactyly 57 0.051
338
CRD002 Cri-Du-Chat Syndrome 57 0.051
339
P HYP040 Hypospadias 55 0.051
340
c ACR001 Aicardi-Goutieres Syndrome 54 0.051
341
CHR008 Choroiditis 54 0.051
342
AND003 Andersen-Tawil Syndrome 54 0.051
343
SPT005 Spotted Fever 53 0.051
344
c CRB126 Cerebral Cavernous Malformation 51 0.051
345
P DYS021 Dysautonomia 49 0.051
346
CHN005 Choanal Atresia 48 0.051
347
GLM011 Glomerulosclerosis 48 0.051
348
c HPT073 Hepatitis C Virus 48 0.051
349
EPL002 Epilepsy Syndrome 46 0.051
350
P FCS001 Facioscapulohumeral Muscular Dystrophy 45 0.051
351
SYN036 Syncope 44 0.051
352
CRB045 Cerebellar Hypoplasia 40 0.051
353
CLF027 Cleft Palate, Isolated 36 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 85 0.046
359
P PHC003 Pheochromocytoma 80 0.046
360
P PLZ001 Pelizaeus-Merzbacher Disease 78 0.046
361
P CLR023 Colorectal Cancer 77 0.046
362
P MYL005 Myelofibrosis 75 0.046
363
DCH001 Duchenne Muscular Dystrophy 75 0.046
364
c DBT009 Diabetes Mellitus 74 0.046
365
P AST007 Astrocytoma 74 0.046
366
WST001 West Syndrome 71 0.046
367
P MLT042 Multiple Endocrine Neoplasia Type 2a 70 0.046
368
SPS077 Sepsis 70 0.046
369
ATH003 Atherosclerosis 69 0.046
370
c HYP086 Hypothyroidism 69 0.046
371
P CNG401 Congenital Heart Disease 69 0.046
372
P AMY004 Amyloidosis 68 0.046
373
P BCK002 Beckwith-Wiedemann Syndrome 68 0.046
374
CLB001 Coloboma 68 0.046
375
P ANR007 Anorexia Nervosa 66 0.046
376
VSC011 Vasculitis 66 0.046
377
c HML002 Hemolytic Anemia 66 0.046
378
CMP005 Campomelic Dysplasia 65 0.046
379
ULC004 Ulcerative Colitis 65 0.046
380
P INS005 Insulin Resistance 65 0.046
381
CLT003 Colitis 64 0.046
382
KRN002 Kearns-Sayre Syndrome 63 0.046
383
c THN001 Thanatophoric Dysplasia 62 0.046
384
P CRB042 Cerebellar Ataxia 62 0.046
385
P CNJ013 Conjunctivitis 62 0.046
386
DWN001 Down Syndrome 62 0.046
387
BRN002 Bronchiolitis 61 0.046
388
SPT013 Septic Shock 61 0.046
389
BRN012 Bronchiolitis Obliterans 60 0.046
390
P PRM054 Primary Sclerosing Cholangitis 60 0.046
391
c TRT010 Teratoma 59 0.046
392
c HYP065 Hyperaldosteronism 58 0.046
393
c EPD003 Epidermolysis Bullosa Simplex 58 0.046
394
DDN006 Duodenitis 56 0.046
395
APP008 Appendicitis 56 0.046
396
c SPN049 Spinocerebellar Ataxia 56 0.046
397
CTN007 Cutaneous Leishmaniasis 56 0.046
398
P INF032 Infertility 55 0.046
399
LGN002 Legionellosis 55 0.046
400
ORL011 Oral Cancer 54 0.046
401
MCR013 Microphthalmia 54 0.046
402
BLN003 Blindness 53 0.046
403
c INF016 Infantile Epileptic Encephalopathy 53 0.046
404
c LYM025 Lymphedema 53 0.046
405
P SVR003 Severe Congenital Neutropenia 53 0.046
406
CLN015 Colon Adenocarcinoma 52 0.046
407
GRW007 Growth Hormone Deficiency 52 0.046
408
P STR020 Strabismus 52 0.046
409
ALX002 Alexithymia 51 0.046
410
P SZR006 Seizure Disorder 51 0.046
411
HYP077 Hypertrichosis 50 0.046
412
c CTS001 Cutis Laxa 49 0.046
413
c RNL078 Renal Dysplasia 48 0.046
414
FRN002 Frontal Lobe Epilepsy 47 0.046
415
MYC033 Myoclonus 45 0.046
416
EBL001 Ebola Hemorrhagic Fever 45 0.046
417
c ACT004 Acute Diarrhea 44 0.046
418
CYT008 Cytomegalovirus Infection 44 0.046
419
PRL017 Prolymphocytic Leukemia 44 0.046
420
SML028 Semilobar Holoprosencephaly 39 0.046
421
HRD025 Hereditary Neuropathy with Liability to Pressure Palsies 39 0.046
422
CHL061 Childhood Leukemia 39 0.046
423
BLP004 Blepharophimosis 38 0.046
424
c RNG023 Ring Chromosome 7 36 0.046
425
HRD088 Hereditary Neuropathies 33 0.046
426
SPR083 Sporadic Hemiplegic Migraine 32 0.046
427
c BNG076 Benign Exophthalmos Syndrome 22 0.046
428
SYN057 Syndromic Intellectual Disability 22 0.046
429
CYS001 Cystic Fibrosis 97 0.040
430
P MLT019 Multiple Myeloma 88 0.040
431
FBR012 Fabry Disease 86 0.040
432
SMT004 Smith-Lemli-Opitz Syndrome 84 0.040
433
CDS001 Cadasil 84 0.040
434
P RTN024 Retinoblastoma 82 0.040
435
P WSK001 Wiskott-Aldrich Syndrome 79 0.040
436
CLD001 Cleidocranial Dysplasia 79 0.040
437
P MNN012 Meningioma 78 0.040
438
THY028 Thyroid Cancer 75 0.040
439
BLS001 Blau Syndrome 73 0.040
440
c CHR065 Chronic Myeloid Leukemia 73 0.040
441
WLF001 Wolff-Parkinson-White Syndrome 73 0.040
442
SCH014 Schistosomiasis 72 0.040
443
P HMN010 Hemangioma 71 0.040
444
P FCL005 Focal Segmental Glomerulosclerosis 70 0.040
445
P DRV001 Dravet Syndrome 70 0.040
446
P RSP003 Respiratory Failure 70 0.040
447
CRB039 Cerebrovascular Disease 69 0.040
448
P INF038 Influenza 68 0.040
449
PRC002 Paracoccidioidomycosis 68 0.040
450
P LNG044 Long Qt Syndrome 1 68 0.040
451
P LBR001 Leber Congenital Amaurosis 68 0.040
452
P CNG030 Congenital Muscular Dystrophy 67 0.040
453
DMN002 Dementia 67 0.040
454
c UVT001 Uveitis 66 0.040
455
DRM006 Dermatitis 66 0.040
456
PPL022 Papilloma 66 0.040
457
c ENC004 Encephalitis 66 0.040
458
c HMP007 Hemophilia 65 0.040
459
BRN028 Brain Cancer 65 0.040
460
HYP004 Hypercalcemia 65 0.040
461
P LRY019 Laryngitis 65 0.040
462
CHG001 Chagas Disease 63 0.040
463
c PRP029 Porphyria 63 0.040
464
VCT001 Vacterl Association 62 0.040
465
P CND004 Candidiasis 62 0.040
466
CTS003 Coats Disease 62 0.040
467
c ANG015 Angioedema 61 0.040
468
PSY004 Psychotic Disorder 61 0.040
469
P PPL005 Papillary Renal Cell Carcinoma 61 0.040
470
c DST002 Distal Arthrogryposis 61 0.040
471
ALP004 Alport Syndrome 61 0.040
472
JCB001 Jacobsen Syndrome 60 0.040
473
ACR008 Acrocallosal Syndrome 60 0.040
474
P ALT001 Alternating Hemiplegia of Childhood 60 0.040
475
c NRN021 Neuronal Ceroid Lipofuscinosis 59 0.040
476
P PRM124 Primary Hyperoxaluria Type 1 59 0.040
477
YLL002 Yellow Fever 59 0.040
478
CLL003 Cellulitis 59 0.040
479
HDC001 Headache 58 0.040
480
DPH001 Diphtheria 58 0.040
481
P MYM002 Moyamoya Disease 58 0.040
482
GLB015 Glioblastoma Multiforme 58 0.040
483
LYS001 Loeys-Dietz Syndrome 57 0.040
484
SMT015 Smith Magenis Syndrome 57 0.040
485
ALP008 Alopecia 57 0.040
486
c LSS002 Lissencephaly 57 0.040
487
c BRC006 Brachydactyly 57 0.040
488
c HYP060 Hyperinsulinism 57 0.040
489
MLG077 Malignant Peripheral Nerve Sheath Tumor 57 0.040
490
MYL003 Myeloid Sarcoma 56 0.040
491
P SPR013 Spiradenoma 56 0.040
492
KLN001 Klinefelter's Syndrome 56 0.040
493
MCR004 Macroglobulinemia 55 0.040
494
MYC011 Myoclonus-Dystonia 55 0.040
495
CHR031 Chromoblastomycosis 55 0.040
496
MTN003 Motion Sickness 55 0.040
497
P CHL066 Cholangitis 55 0.040
498
ART001 Arterial Tortuosity Syndrome 55 0.040
499
P ESN008 Eosinophilic Pneumonia 55 0.040
500
c SYN005 Synostosis 54 0.040
501
CTY001 Cat Eye Syndrome 54 0.040
502
HMP005 Hemiplegia 53 0.040
503
c FBR031 Febrile Seizures 53 0.040
504
P OMP004 Omphalocele 52 0.040
505
P PRP023 Peripheral Neuropathy 52 0.040
506
PYD002 Pyoderma 51 0.040
507
c TCL004 T-Cell Leukemia 51 0.040
508
P MJR001 Major Depressive Disorder 50 0.040
509
c STS001 Sotos Syndrome 50 0.040
510
MCR020 Microsporidiosis 50 0.040
511
c OPT004 Optic Atrophy 50 0.040
512
c SCL009 Sclerosing Cholangitis 50 0.040
513
PRP036 Peripheral T-Cell Lymphoma 49 0.040
514
MTS001 Mutism 49 0.040
515
IMP002 Imperforate Anus 48 0.040
516
BLT006 Bilateral Breast Cancer 48 0.040
517
c CHR037 Chronic Eosinophilic Pneumonia 48 0.040
518
MMB001 Membranoproliferative Glomerulonephritis 48 0.040
519
PRP016 Paraplegia 48 0.040
520
P ART084 Arteriovenous Fistula 47 0.040
521
PNH001 Panhypopituitarism 46 0.040
522
DYS018 Dysostosis 46 0.040
523
CRV045 Cervical Intraepithelial Neoplasia 46 0.040
524
c APH002 Aphasia 44 0.040
525
CRS001 Crescentic Glomerulonephritis 44 0.040
526
P MYF003 Myofibrillar Myopathy 43 0.040
527
c CHR104 Chorea 42 0.040
528
EPS026 Epispadias 42 0.040
529
P VGN017 Vaginal Cancer 42 0.040
530
c TRS004 Torsion Dystonia 41 0.040
531
SPS019 Spastic Paraparesis 41 0.040
532
P END046 Endometritis 41 0.040
533
HPT063 Hepatitis B Virus Infection 39 0.040
534
CRB086 Cerebral Aneurysms 39 0.040
535
KBG001 Kbg Syndrome 38 0.040
536
SPL039 Split Foot 38 0.040
537
c MYC068 Myoclonic Epilepsy of Infancy 38 0.040
538
HNS001 Hansen's Disease 37 0.040
539
15Q001 15q13.3 Microdeletion 35 0.040
540
INT052 Intestinal Volvulus 33 0.040
541
P SLP003 Salpingitis 33 0.040
542
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 32 0.040
543
TNG001 Tungiasis 29 0.040
544
CHR056 Chronic Tic Disorder 26 0.040
545
P BCL005 B Cell Prolymphocytic Leukemia 25 0.040
546
MN1001 Mn1 21 0.040
547
SNL003 Senile Angioma 20 0.040
548
P INT105 Intellectual Disability Multi-Gene Panels 16 0.040
549
NNS031 Non-Syndromic Intellectual Disability 14 0.040
550
P ALZ001 Alzheimer's Disease 100 0.032
551
P SYS001 Systemic Lupus Erythematosus 88 0.032
552
P LFR001 Li-Fraumeni Syndrome 88 0.032
553
P HNT001 Huntington's Disease 87 0.032
554
P RTN008 Retinitis Pigmentosa 86 0.032
555
P GCH001 Gaucher's Disease 84 0.032
556
P OST018 Osteosarcoma 82 0.032
557
SCK003 Sickle Cell Anemia 82 0.032
558
ACH004 Achondroplasia 78 0.032
559
c BTT002 Beta Thalassemia 78 0.032
560
P HMP004 Hemophilia B 78 0.032
561
ACT033 Acute Intermittent Porphyria 78 0.032
562
LVR012 Liver Cirrhosis 77 0.032
563
c LPS004 Lupus Erythematosus 77 0.032
564
CRH001 Crohn's Disease 76 0.032
565
P OST002 Osteoporosis 76 0.032
566
TTR001 Tetralogy of Fallot 75 0.032
567
P ALP006 Alpha Thalassemia 75 0.032
568
21H001 21-Hydroxylase Deficiency 74 0.032
569
P LYN001 Lynch Syndrome 74 0.032
570
P WGN002 Wegener's Granulomatosis 74 0.032
571
c OST005 Osteogenesis Imperfecta 74 0.032
572
P HRD008 Hereditary Hemorrhagic Telangiectasia 73 0.032
573
c PLM037 Pulmonary Hypertension 73 0.032
574
PRG004 Progeria 73 0.032
575
P PRD006 Prader-Willi Syndrome 72 0.032
576
P TMP003 Temporal Arteritis 72 0.032
577
VNW001 Von Willebrand's Disease 72 0.032
578
CHR012 Chronic Granulomatous Disease 71 0.032
579
FBR011 Fibrodysplasia Ossificans Progressiva 70 0.032
580
P END044 Endometriosis 70 0.032
581
CHL065 Cholangiocarcinoma 69 0.032
582
LKC001 Leukocyte Adhesion Deficiency 69 0.032
583
ANX002 Anxiety Disorder 69 0.032
584
P HRP006 Herpes Simplex 68 0.032
585
P HYP056 Hypoglycemia 67 0.032
586
P CRN008 Carney Complex 67 0.032
587
P PRD008 Periodontitis 67 0.032
588
LGG001 Legg-Calve-Perthes Disease 66 0.032
589
ANT006 Antiphospholipid Syndrome 66 0.032
590
c SPN046 Spinal Muscular Atrophy 66 0.032
591
c JVN010 Juvenile Rheumatoid Arthritis 66 0.032
592
GST034 Gastroesophageal Reflux Disease 66 0.032
593
c TXP001 Toxoplasmosis 66 0.032
594
P GRF002 Graft Versus Host Disease 65 0.032
595
P SLV001 Silver-Russell Syndrome 65 0.032
596
P PCH001 Pachyonychia Congenita 64 0.032
597
c EHL001 Ehlers-Danlos Syndrome 64 0.032
598
TRN018 Transitional Cell Carcinoma 64 0.032
599
CHL014 Cholera 64 0.032
600
BBS001 Babesiosis 64 0.032
601
HV1006 Hiv-1 64 0.032
602
c FML010 Familial Medullary Thyroid Carcinoma 63 0.032
603
CHR081 Choroideremia 63 0.032
604
PRL009 Prolactinoma 63 0.032
605
PLM014 Pleomorphic Adenoma 63 0.032
606
P HLT001 Holt-Oram Syndrome 63 0.032
607
c HYP055 Hypoplastic Left Heart Syndrome 63 0.032
608
P ANP001 Anaplastic Large Cell Lymphoma 63 0.032
609
HYP066 Hyperglycemia 62 0.032
610
RBR001 Roberts Syndrome 62 0.032
611
c SPN069 Spinocerebellar Ataxia Type 7 62 0.032
612
ART031 Aortic Coarctation 62 0.032
613
P EPN002 Ependymoma 62 0.032
614
P DDN001 Duodenal Ulcer 62 0.032
615
c AFB001 Afibrinogenemia 62 0.032
616
DSS009 Disseminated Intravascular Coagulation 62 0.032
617
TYP007 Typhoid Fever 62 0.032
618
c PLY014 Polycystic Kidney Disease 62 0.032
619
c MYT002 Myotonic Dystrophy 62 0.032
620
P ATM010 Autoimmune Hemolytic Anemia 62 0.032
621
c TYR004 Tyrosinemia 62 0.032
622
P XRD018 Xeroderma Pigmentosum, Group a 61 0.032
623
BCK001 Becker Muscular Dystrophy 61 0.032
624
WLL003 Williams Syndrome 61 0.032
625
VSC003 Visceral Leishmaniasis 61 0.032
626
P PLY019 Polyneuropathy 61 0.032
627
c ALM001 Al Amyloidosis 61 0.032
628
XLN001 X-Linked Ichthyosis 61 0.032
629
MLL005 Miller-Dieker Syndrome 60 0.032
630
P PRC019 Precocious Puberty 60 0.032
631
NRN004 Neuroendocrine Tumor 60 0.032
632
VNS009 Venous Thrombosis 60 0.032
633
P HYP080 Hypogonadism 60 0.032
634
c GLY013 Glycogen Storage Disease 60 0.032
635
c FML023 Familial Hemiplegic Migraine 59 0.032
636
P CFF001 Coffin-Siris Syndrome 59 0.032
637
BLM002 Bulimia Nervosa 59 0.032
638
LPD010 Lipodystrophy 59 0.032
639
SRT004 Serotonin Syndrome 58 0.032
640
END030 End Stage Renal Failure 58 0.032
641
SCR002 Scurvy 58 0.032
642
P SYP003 Syphilis 58 0.032
643
c HRD010 Hereditary Spastic Paraplegia 58 0.032
644
DBL002 Double Outlet Right Ventricle 58 0.032
645
P CYS010 Cystinosis 58 0.032
646
INT054 Intraocular Lymphoma 58 0.032
647
P DBT005 Diabetes Insipidus 58 0.032
648
OTT002 Otitis Media 58 0.032
649
c SCK002 Sick Sinus Syndrome 58 0.032
650
PST021 Postpartum Depression 58 0.032
651
SLP001 Sleeping Sickness 58 0.032
652
P ACT009 Acute Monocytic Leukemia 57 0.032
653
SCN006 Secondary Syphilis 57 0.032
654
P CNG021 Congenital Toxoplasmosis 57 0.032
655
ANK001 Ankylosis 57 0.032
656
c MNC007 Monocytic Leukemia 57 0.032
657
P HYP024 Hypoparathyroidism 57 0.032
658
NDL013 Nodular Regenerative Hyperplasia 57 0.032
659
P RTN012 Retinopathy of Prematurity 57 0.032
660
c CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 57 0.032
661
BRJ001 Borjeson-Forssman-Lehmann Syndrome 57 0.032
662
CRN005 Craniofrontonasal Syndrome 56 0.032
663
P OCL013 Oculodentodigital Dysplasia 56 0.032
664
P HYP014 Hyperuricemia 56 0.032
665
OCL006 Ocular Hypertension 55 0.032
666
P RCS002 Recessive Dystrophic Epidermolysis Bullosa 55 0.032
667
PRN009 Paranoid Schizophrenia 55 0.032
668
c ACT117 Acute Myelomonocytic Leukemia 55 0.032
669
P CRV043 Cervical Dystonia 55 0.032
670
c ART070 Aortic Valve Disease 55 0.032
671
IMP005 Impotence 55 0.032
672
RFT001 Rift Valley Fever 55 0.032
673
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 54 0.032
674
LYM040 Lymphoblastic Lymphoma 54 0.032
675
SCH012 Schizoaffective Disorder 54 0.032
676
NPH051 Nephritis 54 0.032
677
CNS004 Constipation 54 0.032
678
P LDD002 Liddle Syndrome 54 0.032
679
P MSC003 Muscular Atrophy 54 0.032
680
c LTR001 Lateral Sclerosis 54 0.032
681
c DFF019 Diffuse Gastric Cancer 54 0.032
682
PLY013 Polymyalgia Rheumatica 53 0.032
683
PRM163 Primary Mediastinal Large B-Cell Lymphoma 53 0.032
684
P HYP083 Hypopituitarism 53 0.032
685
RSC001 Rosacea 52 0.032
686
ISL003 Isolated Growth Hormone Deficiency 52 0.032
687
HMG002 Hemoglobinuria 52 0.032
688
TRD006 Tardive Dyskinesia 52 0.032
689
CRN020 Coronary Restenosis 51 0.032
690
CHK001 Chikungunya 51 0.032
691
RFR010 Refractory Anemia 50 0.032
692
SBS003 Substance Abuse 50 0.032
693
P ALV004 Alveolar Rhabdomyosarcoma 50 0.032
694
P NML001 Nemaline Myopathy 50 0.032
695
SFT003 Soft Tissue Sarcoma 49 0.032
696
GNG002 Ganglioneuroma 49 0.032
697
DRY001 Dry Eye Syndrome 48 0.032
698
P HML001 Hemolytic-Uremic Syndrome 48 0.032
699
c FML156 Familial Hyperaldosteronism 48 0.032
700
LCT001 Lactic Acidosis 48 0.032
701
SCH016 Schimke Immunoosseous Dysplasia 47 0.032
702
DRG011 Drug Addiction 47 0.032
703
SCR024 Sacrococcygeal Teratoma 47 0.032
704
c CNT075 Central Precocious Puberty 46 0.032
705
c PRL003 Proliferative Glomerulonephritis 46 0.032
706
MDS022 Mediastinitis 46 0.032
707
CMP034 Complete Androgen Insensitivity Syndrome 46 0.032
708
P SPN052 Spondyloarthropathy 46 0.032
709
TND005 Tendinitis 45 0.032
710
P AZS001 Azoospermia 45 0.032
711
MGL013 Megalencephaly 45 0.032
712
CRT015 Carotid Artery Occlusion 45 0.032
713
HRS011 Horseshoe Kidney 45 0.032
714
ILS001 Ileus 45 0.032
715
FTT001 Fatty Liver Disease 44 0.032
716
BRS090 Breast Reconstruction 44 0.032
717
IMP006 Impulse Control Disorder 44 0.032
718
AGN013 Agenesis of the Corpus Callosum 44 0.032
719
PRR010 Pierre Robin Sequence 44 0.032
720
DXT001 Dextrocardia 43 0.032
721
P CYS017 Cystic Teratoma 43 0.032
722
TTH002 Tooth Agenesis 43 0.032
723
c CHR417 Chronic Graft Versus Host Disease 43 0.032
724
PHC013 Phaeochromocytoma 43 0.032
725
HTS001 Hiatus Hernia 43 0.032
726
XLN005 X-Linked Hyper Igm Syndrome 42 0.032
727
SML019 Smallpox 42 0.032
728
TTR016 Tetra-Amelia Syndrome 42 0.032
729
RCT011 Rectal Prolapse 42 0.032
730
MYC017 Mycobacterium Kansasii 42 0.032
731
P RSM001 Rasmussen Encephalitis 42 0.032
732
c PNT019 Pontocerebellar Hypoplasia 41 0.032
733
c MYP006 Myopia 41 0.032
734
ANN005 Annular Pancreas 41 0.032
735
P MNN007 Meningocele 41 0.032
736
MCK002 Meckel's Diverticulum 41 0.032
737
TTH016 Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 40 0.032
738
c INF037 Inflammatory Bowel Disease 40 0.032
739
ANG046 Angioimmunoblastic T-Cell Lymphoma 40 0.032
740
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 39 0.032
741
DVL002 Developmental Disabilities 39 0.032
742
AND001 Anodontia 39 0.032
743
ENC011 Encephalomyopathy 39 0.032
744
TND004 Tendinopathy 38 0.032
745
TTH001 Tooth Ankylosis 38 0.032
746
22Q001 22q11.2 Duplication 38 0.032
747
XRP001 Xerophthalmia 38 0.032
748
PRS045 Prostatic Hypertrophy 38 0.032
749
MYS004 Myiasis 37 0.032
750
MVM001 Movement Disease 37 0.032
751
RCH001 Richter's Syndrome 36 0.032
752
MTC004 Mitochondrial Encephalomyopathy 36 0.032
753
c BRT040 Baraitser-Winter Syndrome 36 0.032
754
GRD006 Geroderma Osteodysplastica 36 0.032
755
ADS002 Adie Syndrome 35 0.032
756
P NNS007 Nonsyndromic Deafness 35 0.032
757
CLR109 Colorectal Adenocarcinoma 35 0.032
758
PLM074 Pulmonary Function 34 0.032
759
PLY024 Polymicrogyria 34 0.032
760
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 33 0.032
761
DRF001 Dirofilariasis 33 0.032
762
CNG219 Congenital Aural Atresia 33 0.032
763
HYP101 Hyperinsulinism-Hyperammonemia Syndrome 33 0.032
764
c ATL001 Atelosteogenesis 33 0.032
765
P LTT004 Lattice Corneal Dystrophy Type 1 31 0.032
766
c LNG048 Long Qt Syndrome 3 31 0.032
767
SHP002 Shprintzen-Goldberg Syndrome 31 0.032
768
c SCP001 Sc Phocomelia Syndrome 30 0.032
769
c PHC014 Phocomelia 30 0.032
770
ECS001 Eec Syndrome 29 0.032
771
c CHR193 Chromosome 13q Deletion 29 0.032
772
c RNG022 Ring Chromosome 6 29 0.032
773
PLC009 Placenta Praevia 29 0.032
774
ENT001 Enterocele 28 0.032
775
WDM004 Wiedemann-Steiner Syndrome 28 0.032
776
HNM002 Hinman Syndrome 28 0.032
777
END016 Endocervicitis 28 0.032
778
HRT011 Heart Septal Defect 28 0.032
779
CPG001 Capgras Syndrome 28 0.032
780
P HYP163 Hyperlipidemia Type 3 28 0.032
781
DDN009 Duodenal Obstruction 27 0.032
782
c RNG016 Ring Chromosome 20 25 0.032
783
ART034 Aortopulmonary Window 24 0.032
784
c RNG013 Ring Chromosome 18 24 0.032
785
ART007 Aorta Atresia 23 0.032
786
SML025 Small Non-Cleaved Cell Lymphoma 21 0.032
787
BFD003 Bifid Uvula 21 0.032
788
CLR033 Color Vision Deficiency 20 0.032
789
CLP002 Colpocephaly 18 0.032
790
GRN021 Granulomatous Rosacea 17 0.032
791
c ADL001 Adult Lymphoma 17 0.032
792
SBM006 Submucosal Cleft Palate 16 0.032
793
ULR001 Ulerythema Ophryogenesis 15 0.032
794
PRS111 Persistent Fifth Aortic Arch 15 0.032
795
MNT014 Mental Retardation Epilepsy 14 0.032
796
MTT004 Metatarsus Adductus 14 0.032
797
TRG006 Trigger Thumb 14 0.032
798
IMM061 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome-2 9 0.032
799
PYM002 Pyometritis 9 0.032
800
c TYP009 Type 2 Diabetes Mellitus 100 0.023
801
P TYP008 Type 1 Diabetes Mellitus 96 0.023
802
P PNC035 Pancreatic Cancer 93 0.023
803
P LVR011 Liver Cancer 91 0.023
804
P AST005 Asthma 89 0.023
805
P CHR090 Chronic Lymphocytic Leukemia 89 0.023
806
P FML021 Familial Hypercholesterolemia 86 0.023
807
P OVR042 Ovarian Cancer 85 0.023
808
PHN003 Phenylketonuria 83 0.023
809
P HMC003 Hemochromatosis 83 0.023
810
MTC003 Metachromatic Leukodystrophy 83 0.023
811
P HRS001 Hirschsprung's Disease 82 0.023
812
P ALG002 Alagille Syndrome 81 0.023
813
ACR007 Acromegaly 80 0.023
814
WLS001 Wilson Disease 79 0.023
815
P MYS003 Myasthenia Gravis 78 0.023
816
BRK003 Burkitt's Lymphoma 77 0.023
817
P FRG001 Fragile X Syndrome 76 0.023
818
P END042 Endometrial Carcinoma 76 0.023
819
CRB011 Cerebrotendinous Xanthomatosis 76 0.023
820
P STH001 Saethre-Chotzen Syndrome 76 0.023
821
P OST012 Osteoarthritis 76 0.023
822
KWS002 Kawasaki Disease 76 0.023
823
P PRP003 Porphyria Cutanea Tarda 75 0.023
824
ATT002 Attention Deficit Hyperactivity Disorder 75 0.023
825
P NRC002 Narcolepsy 75 0.023
826
NRR002 Norrie Disease 74 0.023
827
GLN003 Glanzmann's Thrombasthenia 74 0.023
828
MNK001 Menkes Disease 74 0.023
829
SVR004 Severe Combined Immunodeficiency 74 0.023
830
P PRM006 Primary Biliary Cirrhosis 73 0.023
831
FCT001 Factor Viii Deficiency 73 0.023
832
c HYP095 Hypercholesterolemia 73 0.023
833
P CLC005 Celiac Disease 73 0.023
834
CFF002 Coffin-Lowry Syndrome 72 0.023
835
P EPD002 Epidermolytic Hyperkeratosis 72 0.023
836
RLP001 Relapsing Polychondritis 72 0.023
837
P HYP035 Hypophosphatasia 71 0.023
838
CHR029 Choroid Plexus Papilloma 71 0.023
839
MLT021 Multiple System Atrophy 71 0.023
840
c ACT074 Acute Lymphocytic Leukemia 70 0.023
841
NLP001 Nail-Patella Syndrome 70 0.023
842
c GLY028 Glycogen Storage Disease Type 1a 70 0.023
843
P MYS005 Myositis 70 0.023
844
P CNG368 Congenital Adrenal Hyperplasia 70 0.023
845
RNL002 Renal Agenesis 70 0.023
846
P PNC025 Panic Disorder 69 0.023
847
HYP042 Hypochondroplasia 69 0.023
848
DNY001 Denys-Drash Syndrome 69 0.023
849
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.023
850
KLP002 Klippel-Trenaunay Syndrome 69 0.023
851
P MLG068 Malignant Glioma 69 0.023
852
SHW002 Shwachman-Diamond Syndrome 69 0.023
853
NRL016 Neural Tube Defects 68 0.023
854
FLL032 Follicular Thyroid Carcinoma 68 0.023
855
CRY005 Cryptococcosis 68 0.023
856
c MNN013 Meningitis 68 0.023
857
MRB003 Morbid Obesity 68 0.023
858
PSD012 Pseudoachondroplasia 68 0.023
859
P FML032 Familial Hypertrophic Cardiomyopathy 68 0.023
860
P BLD042 Bladder Carcinoma 68 0.023
861
PST028 Post-Traumatic Stress Disorder 68 0.023
862
P ESS001 Essential Tremor 68 0.023
863
P THY023 Thymoma 68 0.023
864
PLS006 Plasmodium Vivax Malaria 68 0.023
865
P ATP001 Atopic Dermatitis 67 0.023
866
P OST009 Osteochondritis Dissecans 67 0.023
867
P THR015 Thrombophilia 67 0.023
868
P DGR001 Digeorge Syndrome 67 0.023
869
P BSL007 Basal Cell Carcinoma 67 0.023
870
P HYP117 Hypertriglyceridemia 67 0.023
871
HYP020 Hyperprolactinemia 67 0.023
872
MLG056 Malignant Hyperthermia 66 0.023
873
P GT001 Gout 66 0.023
874
PBL001 Piebaldism 66 0.023
875
STR008 Strongyloidiasis 66 0.023
876
P MCH002 Machado-Joseph Disease 66 0.023
877
P GST044 Gastritis 66 0.023
878
CHR066 Chronic Fatigue Syndrome 66 0.023
879
VRG001 Variegate Porphyria 66 0.023
880
DBT001 Diabetic Ketoacidosis 66 0.023
881
c JBR001 Joubert Syndrome 66 0.023
882
RHM001 Rheumatic Fever 66 0.023
883
THR079 Thromboembolism 66 0.023
884
CMM005 Common Cold 66 0.023
885
SHG001 Shigellosis 65 0.023
886
IRR002 Irritable Bowel Syndrome 65 0.023
887
CST001 Costello Syndrome 65 0.023
888
CHR103 Charge Syndrome 65 0.023
889
BRT005 Barth Syndrome 65 0.023
890
P PRG006 Progressive Supranuclear Palsy 65 0.023
891
P ALP009 Alopecia Areata 65 0.023
892
P CNG042 Congenital Central Hypoventilation Syndrome 65 0.023
893
CRB037 Cerebral Palsy 65 0.023
894
c MCP010 Mucopolysaccharidosis 64 0.023
895
BRR003 Barrett's Esophagus 64 0.023
896
OCL008 Oculopharyngeal Muscular Dystrophy 64 0.023
897
c CCK001 Cockayne Syndrome 64 0.023
898
P VLC001 Velocardiofacial Syndrome 64 0.023
899
P DYS007 Dyskeratosis Congenita 64 0.023
900
P OLG002 Oligodendroglioma 64 0.023
901
PSR002 Psoriasis 63 0.023
902
CRY002 Cryptorchidism 63 0.023
903
P RBL001 Rubella 63 0.023
904
DFC004 Deficiency Anemia 63 0.023
905
CRN036 Craniopharyngioma 63 0.023
906
SCL003 Social Phobia 63 0.023
907
DYS026 Dysfibrinogenemia 63 0.023
908
SCK005 Sickle Cell Disease 62 0.023
909
P KRT004 Keratitis 62 0.023
910
P ATY010 Atypical Hemolytic-Uremic Syndrome 62 0.023
911
c HYP051 Hypokalemic Periodic Paralysis 62 0.023
912
P PRT010 Parathyroid Carcinoma 62 0.023
913
c DMN001 Diamond-Blackfan Anemia 62 0.023
914
PTT006 Pituitary Adenoma 62 0.023
915
ARC007 Arachnoid Cysts 62 0.023
916
LCH002 Lichen Planus 62 0.023
917
TST014 Testicular Cancer 62 0.023
918
ERY009 Erythropoietic Protoporphyria 62 0.023
919
c ESS003 Essential Thrombocythemia 61 0.023
920
P CRV035 Cervical Cancer 61 0.023
921
GNG013 Gingivitis 61 0.023
922
ASP003 Aseptic Meningitis 61 0.023
923
c HYP050 Hyperinsulinemic Hypoglycemia 61 0.023
924
NRL004 Neuroleptic Malignant Syndrome 61 0.023
925
HMR004 Hemorrhagic Fever with Renal Syndrome 61 0.023
926
ALP003 Alpers Syndrome 61 0.023
927
GLS001 Gliosarcoma 61 0.023
928
RST001 Restless Legs Syndrome 61 0.023
929
c AGM001 Agammaglobulinemia 61 0.023
930
VTL002 Vitiligo 61 0.023
931
P HMC002 Homocystinuria 60 0.023
932
P MYT006 Myotonic Dystrophy Type 1 60 0.023
933
OLG003 Oligohydramnios 60 0.023
934
ANG020 Angiosarcoma 60 0.023
935
WGR001 Wagr Syndrome 60 0.023
936
PTH002 Pathological Gambling 60 0.023
937
c LRY016 Laryngeal Carcinoma 60 0.023
938
c HMP002 Hemophagocytic Lymphohistiocytosis 60 0.023
939
KRT001 Keratoconjunctivitis Sicca 60 0.023
940
P SYN007 Synovitis 60 0.023
941
SPN020 Spondylosis 60 0.023
942
MTC007 Mitochondrial Complex I Deficiency 60 0.023
943
PMP001 Pemphigus 60 0.023
944
c ACT075 Acute Myocardial Infarction 60 0.023
945
MGC001 Megacolon 60 0.023
946
c OPN001 Open-Angle Glaucoma 60 0.023
947
c SLP006 Sleep Apnea 59 0.023
948
c HPT003 Hepatitis a 59 0.023
949
P MTR005 Mitral Valve Prolapse 59 0.023
950
MRG003 Marginal Zone B-Cell Lymphoma 59 0.023
951
EYD002 Eye Disease 59 0.023
952
HRY003 Hairy Cell Leukemia 59 0.023
953
AMN001 Amenorrhea 59 0.023
954
c THR005 Thrombotic Thrombocytopenic Purpura 59 0.023
955
CHL068 Cholestasis 59 0.023
956
ANT011 Antisocial Personality Disorder 59 0.023
957
CND002 Conduct Disorder 59 0.023
958
CRY004 Cryoglobulinemia 59 0.023
959
TWN003 Townes-Brocks Syndrome 59 0.023
960
c MTH007 Methemoglobinemia 59 0.023
961
NRC020 Neuroectodermal Tumor 59 0.023
962
P PPL020 Papillary Thyroid Carcinoma 59 0.023
963
P PRS038 Personality Disorder 59 0.023
964
RTN025 Retinoschisis 59 0.023
965
OST014 Osteopoikilosis 59 0.023
966
c MCP001 Mucopolysaccharidosis Iii 59 0.023
967
TMP001 Temporal Lobe Epilepsy 59 0.023
968
c BRG001 Brugada Syndrome 59 0.023
969
OST017 Osteomyelitis 59 0.023
970
CNN005 Connective Tissue Disease 58 0.023
971
CNR002 Cone-Rod Dystrophy 58 0.023
972
c TRC011 Treacher Collins Syndrome 58 0.023
973
CPL006 Capillary Hemangioma 58 0.023
974
GNR004 Generalized Anxiety Disorder 58 0.023
975
ISC006 Ischemic Heart Disease 58 0.023
976
ACN011 Acne 58 0.023
977
P ATR001 Atrioventricular Septal Defect 58 0.023
978
P ICH001 Ichthyosis Vulgaris 58 0.023
979
THY033 Thyrotoxicosis 58 0.023
980
c HRD002 Hereditary Angioedema 58 0.023
981
KDS001 Kid Syndrome 58 0.023
982
BRN071 Brain Injury 58 0.023
983
P CTR001 Citrullinemia 57 0.023
984
RBS001 Rabies 57 0.023
985
IRN001 Iron Deficiency Anemia 57 0.023
986
TNS005 Tonsillitis 57 0.023
987
NTR003 Natural Killer Cell Leukemia 57 0.023
988
ESP020 Esophageal Atresia 57 0.023
989
NRH001 Neurohypophyseal Diabetes Insipidus 57 0.023
990
P RTN022 Retinal Vein Occlusion 57 0.023
991
P END033 Endocarditis 57 0.023
992
MGK001 Megakaryocytic Leukemia 57 0.023
993
RNL007 Renal Tubular Acidosis 57 0.023
994
P HYP097 Hyperekplexia 57 0.023
995
LDP002 Lead Poisoning 57 0.023
996
c KBK001 Kabuki Syndrome 57 0.023
997
P PRV002 Periventricular Nodular Heterotopia 57 0.023
998
PRD007 Periodontal Disease 56 0.023
999
MNL001 Monilethrix 56 0.023
1000
PRT011 Protein C Deficiency 56 0.023
1001
ART017 Aortic Disease 56 0.023
1002
SSN001 Seasonal Affective Disorder 56 0.023
1003
PYD001 Pyoderma Gangrenosum 56 0.023
1004
TLP001 Talipes Equinovarus 56 0.023
1005
c TRM003 Tremor 56 0.023
1006
MCR088 Microscopic Polyangiitis 56 0.023
1007
P DNT039 Dent's Disease 56 0.023
1008
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.023
1009
P ESN001 Eosinophilic Esophagitis 55 0.023
1010
VNS010 Venous Thromboembolism 55 0.023
1011
ANR018 Anorchia 55 0.023
1012
P PMP005 Pemphigus Vulgaris 55 0.023
1013
TRP002 Tropical Spastic Paraparesis 55 0.023
1014
HMM003 Hemimegalencephaly 55 0.023
1015
ADR008 Adrenal Adenoma 55 0.023
1016
INT002 Intermittent Claudication 55 0.023
1017
MGR001 Migraine Without Aura 55 0.023
1018
c DNT011 Dentinogenesis Imperfecta 55 0.023
1019
P ZLL001 Zellweger Syndrome 55 0.023
1020
PRM003 Premature Ejaculation 55 0.023
1021
ASP001 Asperger Syndrome 55 0.023
1022
P TMT001 Timothy Syndrome 55 0.023
1023
CCN001 Cocaine Dependence 55 0.023
1024
P KLP003 Klippel-Feil Syndrome 55 0.023
1025
MYL001 Myelitis 55 0.023
1026
PRT018 Portal Vein Thrombosis 55 0.023
1027
c PSD015 Pseudohypoparathyroidism 55 0.023
1028
P EHL049 Ehlers–danlos Syndrome Classical Type 55 0.023
1029
VND002 Van Der Woude Syndrome 55 0.023
1030
CHL069 Cholesteatoma 55 0.023
1031
P BTM001 Beta-Mannosidosis 55 0.023
1032
PLY012 Polyhydramnios 54 0.023
1033
MLN007 Male Infertility 54 0.023
1034
SPR004 Supravalvular Aortic Stenosis 54 0.023
1035
P VNT002 Ventricular Septal Defect 54 0.023
1036
c ADN012 Adenocarcinoma in Situ 54 0.023
1037
P SPN068 Spinocerebellar Ataxia Type 6 54 0.023
1038
c ANT034 Anterior Uveitis 54 0.023
1039
c ACT134 Acute Liver Failure 54 0.023
1040
TRM010 Traumatic Brain Injury 54 0.023
1041
P RBN002 Robinow Syndrome 54 0.023
1042
EHR002 Ehrlichiosis 54 0.023
1043
WLL001 Williams-Beuren Syndrome 54 0.023
1044
SPT004 Septic Arthritis 53 0.023
1045
P PLM006 Pulmonary Alveolar Proteinosis 53 0.023
1046
c NNT009 Neonatal Diabetes Mellitus 53 0.023
1047
WLK001 Walker-Warburg Syndrome 53 0.023
1048
P ALP014 Alpha-Thalassemia/mental Retardation Syndrome 53 0.023
1049
GYR001 Gyrate Atrophy 53 0.023
1050
LPS007 Lupus Nephritis 53 0.023
1051
INT066 Interstitial Lung Disease 53 0.023
1052
PTT008 Pituitary Carcinoma 53 0.023
1053
c CNT048 Central Hypoventilation Syndrome 53 0.023
1054
P BNG046 Benign Hereditary Chorea 53 0.023
1055
STN007 Stenotrophomonas Maltophilia 53 0.023
1056
OST011 Osteomalacia 53 0.023
1057
PRS023 Pearson Syndrome 53 0.023
1058
c HPT007 Hepatitis E 53 0.023
1059
c CNG025 Congenital Disorder of Glycosylation 53 0.023
1060
RSD004 Rosai-Dorfman Disease 53 0.023
1061
OBS006 Obstructive Lung Disease 53 0.023
1062
c TYR003 Tyrosinemia Type Ii 53 0.023
1063
c HYD002 Hydronephrosis 52 0.023
1064
c SPN183 Spontaneous Pneumothorax 52 0.023
1065
ACS001 Acoustic Neuroma 52 0.023
1066
FRZ001 Frozen Shoulder 52 0.023
1067
ANG002 Angiostrongyliasis 52 0.023
1068
P FML075 Familial Isolated Hyperparathyroidism 52 0.023
1069
DYS073 Dysphagia 52 0.023
1070
VHW001 Vohwinkel Syndrome 52 0.023
1071
ALC009 Alcoholic Liver Cirrhosis 52 0.023
1072
P ORT004 Orthostatic Intolerance 52 0.023
1073
P PND001 Pain Disorder 52 0.023
1074
P ALC004 Alcohol Abuse 52 0.023
1075
MNN014 Mononeuritis 51 0.023
1076
AGR002 Agoraphobia 51 0.023
1077
P RPP002 Rippling Muscle Disease 51 0.023
1078
LKD001 Leukodystrophy 51 0.023
1079
P LYD001 Leydig Cell Tumor 51 0.023
1080
c PRM051 Primary Pigmented Nodular Adrenocortical Disease 51 0.023
1081
XLN010 X-Linked Adrenal Hypoplasia Congenita 51 0.023
1082
MMR004 Memory Impairment 51 0.023
1083
P HYP027 Hypobetalipoproteinemia 51 0.023
1084
MLK003 Melkersson-Rosenthal Syndrome 51 0.023
1085
RGD001 Rigid Spine Syndrome 51 0.023
1086
GLC037 Glucocorticoid Resistance 51 0.023
1087
MYP001 Myoepithelioma 51 0.023
1088
CCN002 Cocaine Abuse 51 0.023
1089
c SYN001 Syndactyly 51 0.023
1090
EPS023 Epstein-Barr Virus-Associated Gastric Carcinoma 51 0.023
1091
c EPS003 Episodic Ataxia 51 0.023
1092
NNT024 Neonatal Stroke 51 0.023
1093
CHN016 Cohen Syndrome 50 0.023
1094
CLS010 Cluster Headache 50 0.023
1095
PRT026 Parotitis 50 0.023
1096
GRM009 Germ Cell Tumors 50 0.023
1097
MYC013 Mycobacterium Abscessus 50 0.023
1098
HJD001 Hajdu-Cheney Syndrome 50 0.023
1099
BCT015 Bacteremia 50 0.023
1100
PNM008 Pneumothorax 50 0.023
1101
HDR006 Hidradenocarcinoma 50 0.023
1102
CTS002 Cat-Scratch Disease 50 0.023
1103
FBR047 Fibromyalgia 50 0.023
1104
SYN006 Synovial Sarcoma 50 0.023
1105
DNG002 Dengue Hemorrhagic Fever 49 0.023
1106
OLG006 Oligoastrocytoma 49 0.023
1107
CRN006 Coronary Aneurysm 49 0.023
1108
SPN119 Spondylarthropathy 49 0.023
1109
THY022 Thymic Carcinoma 49 0.023
1110
SMN007 Seminoma 49 0.023
1111
P JRV001 Jervell-Lange Nielsen Syndrome 49 0.023
1112
LKM001 Leukemoid Reaction 49 0.023
1113
WGN003 Wagner Syndrome 49 0.023
1114
PLS016 Plasma Cell Leukemia 49 0.023
1115
RTN018 Retinal Disease 49 0.023
1116
c BNG032 Benign Mesothelioma 49 0.023
1117
MST005 Mastitis 49 0.023
1118
P TRC085 Trichorhinophalangeal Syndrome Type Ii 49 0.023
1119
FCL022 Focal Dystonia 49 0.023
1120
TRC040 Tracheoesophageal Fistula 49 0.023
1121
RNL077 Renal Fibrosis 49 0.023
1122
NCT002 Nicotine Dependence 49 0.023
1123
PRM028 Paramyotonia Congenita 49 0.023
1124
ACT087 Acth Deficiency 49 0.023
1125
VCC001 Vaccinia 49 0.023
1126
P HRD007 Hereditary Lymphedema 49 0.023
1127
MLN003 Melancholia 49 0.023
1128
CLP001 Calpainopathy 49 0.023
1129
GNT031 Genitopatellar Syndrome 49 0.023
1130
PLM010 Pulmonary Edema 49 0.023
1131
c NGH001 Night Blindness 49 0.023
1132
PTT001 Pituitary Hypoplasia 48 0.023
1133
P WRD005 Waardenburg Syndrome Type I 48 0.023
1134
SBS004 Substance Dependence 48 0.023
1135
P PNC001 Pancytopenia 48 0.023
1136
NSP002 Nasopharyngitis 48 0.023
1137
c CNG018 Congenital Heart Block 48 0.023
1138
XNT003 Xanthomatosis 48 0.023
1139
P ACH008 Achondrogenesis Type Ia 48 0.023
1140
BRN014 Bronchopneumonia 48 0.023
1141
STR001 Striatonigral Degeneration 48 0.023
1142
LYM008 Lymphangiosarcoma 48 0.023
1143
P MXD016 Mixed Gonadal Dysgenesis 48 0.023
1144
c CHR130 Charcot-Marie-Tooth Disease Type 1b 48 0.023
1145
HTR003 Heterotaxy 48 0.023
1146
c PRN026 Porencephaly 48 0.023
1147
c GNR002 Generalized Epilepsy with Febrile Seizures Plus 48 0.023
1148
P HRD092 Hereditary Diffuse Leukoencephalopathy with Spheroids 47 0.023
1149
DBT061 Diabetic Nephropathy 47 0.023
1150
c SHR030 Short Qt Syndrome 47 0.023
1151
P TRN034 Transverse Myelitis 47 0.023
1152
BRD004 Borderline Personality Disorder 47 0.023
1153
ACT200 Acute Monoblastic Leukemia 47 0.023
1154
P ATN005 Autonomic Dysfunction 47 0.023
1155
SPL004 Splenic Marginal Zone Lymphoma 47 0.023
1156
FCL014 Focal Epilepsy 47 0.023
1157
RLP002 Relapsing-Remitting Multiple Sclerosis 47 0.023
1158
TRC012 Trichuriasis 47 0.023
1159
c TRN032 Transient Neonatal Diabetes Mellitus 46 0.023
1160
MYK002 Myokymia 46 0.023
1161
DLS001 Delusional Disorder 46 0.023
1162
CRT063 Creatine Transporter Deficiency 46 0.023
1163
HYP064 Hypogonadotropism 46 0.023
1164
NRM004 Neuroma 46 0.023
1165
c ADL017 Adult T-Cell Leukemia 46 0.023
1166
LKP003 Leukoplakia 46 0.023
1167
BRN013 Bronchiolitis Obliterans Organizing Pneumonia 46 0.023
1168
P HYP111 Hyperprolinemia 46 0.023
1169
CRN025 Corneal Dystrophy 46 0.023
1170
HMN016 Hemangioendothelioma 46 0.023
1171
HRN003 Heroin Dependence 46 0.023
1172
c HYP052 Hyperkalemic Periodic Paralysis 46 0.023
1173
BLT001 Bilateral Retinoblastoma 46 0.023
1174
ACT012 Acute Hemorrhagic Conjunctivitis 46 0.023
1175
P HMG003 Hemoglobin E Disease 45 0.023
1176
P FNG005 Feingold Syndrome 45 0.023
1177
INF034 Infective Endocarditis 45 0.023
1178
c FTL001 Fetal Alcohol Syndrome 45 0.023
1179
SYD001 Sydenham's Chorea 45 0.023
1180
c HYP263 Hypersomnia 45 0.023
1181
c BLP002 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 45 0.023
1182
OPP004 Oppositional Defiant Disorder 45 0.023
1183
MXD032 Mixed Germ Cell Tumor 44 0.023
1184
SYS034 Systemic Onset Juvenile Idiopathic Arthritis 44 0.023
1185
P ATR066 Atrial Septal Defect 2 44 0.023
1186
CLR030 Clear Cell Renal Cell Carcinoma 44 0.023
1187
ARC002 Arachnoiditis 44 0.023
1188
c FML169 Familial Osteochondritis Dissecans 44 0.023
1189
LYM029 Lymphedema-Distichiasis Syndrome 44 0.023
1190
RDL002 Radioulnar Synostosis 44 0.023
1191
LNG029 Lung Adenocarcinoma 44 0.023
1192
CHN015 Chondrodysplasia 44 0.023
1193
P SDR003 Sideroblastic Anemia 44 0.023
1194
CLL002 Collecting Duct Carcinoma 44 0.023
1195
P RTN016 Retinal Degeneration 44 0.023
1196
QDR001 Quadriplegia 44 0.023
1197
AMN006 Aminoaciduria 44