Search results for "DES"

1408 hits were found for 'DES'

# Family MCID Name MIFTS Score
1
c CRN015 Cornelia De Lange Syndrome 52 7.281
2
GLL008 Gilles De La Tourette Syndrome 70 5.770
3
c DSR003 Des-Related Dilated Cardiomyopathy 11 5.484
4
DQR001 De Quervain Disease 17 4.633
5
c MYP004 Myopathy 62 4.083
6
c ATL009 Atelosteogenesis Type 2 29 3.946
7
P KLN008 Koolen De Vries Syndrome 30 3.721
8
DBR002 De Barsy Syndrome 23 3.711
9
SPT014 Septo-Optic Dysplasia 68 3.678
10
MLD004 Mal De Debarquement 21 3.400
11
P FNC004 Fanconi Syndrome 49 3.352
12
P CRN139 Cornelia De Lange Syndrome 1 47 3.326
13
GRB001 Grubben De Cock Borghgraef Syndrome 17 3.260
14
MLD003 Meleda Disease 29 3.243
15
c MYP072 Myopathy, Myofibrillar, 1 21 3.152
16
DTH005 Diethylstilbestrol Syndrome 14 2.877
17
DSM004 Desmoid Tumor 67 2.840
18
P CHN012 Chondrosarcoma 63 2.840
19
P LPS002 Liposarcoma 61 2.840
20
P GNT008 Giant Cell Tumor 57 2.840
21
P GST019 Gastrointestinal Stromal Tumor 82 2.830
22
P LYM007 Lymphangioleiomyomatosis 73 2.830
23
LMY002 Leiomyoma 67 2.830
24
CHR072 Chordoma 66 2.830
25
HST009 Histiocytoma 55 2.830
26
FBR003 Fibrous Histiocytoma 54 2.830
27
ANG018 Angiomyolipoma 51 2.830
28
SMT002 Smooth Muscle Tumor 46 2.830
29
P CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 30 2.824
30
DGR003 De Grouchy Syndrome 5 2.824
31
LPM004 Lipoma 64 2.819
32
P LMY004 Leiomyosarcoma 64 2.819
33
GLM008 Glomus Tumor 59 2.819
34
P HMN013 Hemangiopericytoma 54 2.819
35
P GRN010 Granular Cell Tumor 53 2.819
36
ADN020 Adenosarcoma 52 2.819
37
RHB017 Rhabdoid Tumor 50 2.819
38
FBR019 Fibromatosis 47 2.819
39
FBR054 Fibroma 45 2.819
40
FSC004 Fasciitis 45 2.819
41
c INF049 Infantile Myofibromatosis 43 2.819
42
P SRT002 Sertoli Cell Tumor 41 2.819
43
SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 19 2.819
44
TRS019 Torsade-De-Pointes Syndrome with Short Coupling Interval 5 2.814
45
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 31 2.803
46
c XRD001 Xeroderma Pigmentosum 70 2.790
47
c SMC002 Smc3-Related Cornelia De Lange Syndrome 9 2.790
48
MRF010 Marfanoid Syndrome, De Silva Type 6 2.790
49
LNR005 Linear Scleroderma 24 2.491
50
c MSC095 Muscular Dystrophy, Limb-Girdle, Type 2r 17 2.441
51
c CRN134 Cornelia De Lange Syndrome 2 14 2.326
52
c CRN135 Cornelia De Lange Syndrome 3 12 2.326
53
STL003 Stoelinga De Koomen Davis Syndrome 5 2.316
54
c CRN209 Cornelia De Lange Syndrome 5 10 2.305
55
TND003 Toni-Debre-Fanconi Syndrome 8 2.305
56
FRN019 Frints De Smet Fabry Fryns Syndrome 2 2.305
57
DYS036 Dysequilibrium Syndrome 30 2.293
58
XLN024 X-Linked Mental Retardation De Silva Type 3 2.293
59
MRP003 Marphanoid Syndrome Type De Silva 1 2.293
60
MST011 Mastroiacovo De Rosa Satta Syndrome 1 2.293
61
WLL008 Willems De Vries Syndrome 1 2.293
62
RTC002 Reticular Dysgenesis 53 2.278
63
CLF019 Cleft Palate Short Stature Vertebral Anomalies 14 2.278
64
c CRN215 Cornelia De Lange Syndrome 4 10 2.278
65
c SMC001 Smc1a-Related Cornelia De Lange Syndrome 9 2.278
66
c HDC004 Hdac8-Related Cornelia De Lange Syndrome 8 2.278
67
c NPB001 Nipbl-Related Cornelia De Lange Syndrome 8 2.278
68
c RD2001 Rad21-Related Cornelia De Lange Syndrome 8 2.278
69
c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 5 2.278
70
ATR057 Atrioventricular Block 51 2.041
71
P MDL005 Medulloblastoma 77 2.021
72
P ALX003 Alexander Disease 73 2.021
73
CVR006 Cavernous Hemangioma 58 2.021
74
SLT008 Solitary Fibrous Tumor 55 2.021
75
PYL006 Pyloric Stenosis 50 2.021
76
CRT008 Carotid Artery Dissection 47 2.021
77
c MLG067 Malignant Giant Cell Tumor 35 2.021
78
P CNT004 Centronuclear Myopathy 62 2.008
79
FBR032 Fibromuscular Dysplasia 59 2.008
80
END031 Endometrial Stromal Sarcoma 53 2.008
81
c RST002 Restrictive Cardiomyopathy 52 2.008
82
DDF001 Dedifferentiated Liposarcoma 48 2.008
83
UTR043 Uterine Sarcoma 45 2.008
84
INT020 Intravenous Leiomyomatosis 38 2.008
85
c CRD111 Cardiomyopathy, Dilated, 1i 12 2.008
86
DRM014 Dermatofibrosarcoma Protuberans 64 1.993
87
P PRP025 Peripheral Primitive Neuroectodermal Tumor 62 1.993
88
MYX005 Myxoid Liposarcoma 58 1.993
89
ALV005 Alveolar Soft Part Sarcoma 57 1.993
90
P SYR003 Syringoma 55 1.993
91
DSM007 Desmoplastic Small Round Cell Tumor 54 1.993
92
P MSN005 Mesenchymal Chondrosarcoma 53 1.993
93
DRM004 Dermatofibrosarcoma 52 1.993
94
ADN014 Adenomatoid Tumor 51 1.993
95
DYS032 Dystrophinopathies 50 1.993
96
CHL052 Choledochal Cyst 50 1.993
97
CRN055 Carney Triad 50 1.993
98
P BNG071 Benign Schwannoma 50 1.993
99
P PLM030 Pleomorphic Rhabdomyosarcoma 49 1.993
100
EMB007 Embryonal Sarcoma 49 1.993
101
P EMB005 Embryonal Rhabdomyosarcoma 49 1.993
102
INF058 Inflammatory Myofibroblastic Tumor 48 1.993
103
BLD033 Bile Duct Adenoma 48 1.993
104
NNT016 Neonatal Hemochromatosis 47 1.993
105
c EPL003 Epulis 47 1.993
106
SPN006 Spindle Cell Lipoma 47 1.993
107
P BTR001 Botryoid Rhabdomyosarcoma 46 1.993
108
TNS001 Tenosynovial Giant Cell Tumor 46 1.993
109
P CYS007 Cystic Nephroma 45 1.993
110
MYX013 Myxofibrosarcoma 45 1.993
111
HPT006 Hepatic Angiomyolipoma 45 1.993
112
MLN057 Melanoma of Soft Parts 44 1.993
113
P CLR017 Clear Cell Sarcoma 44 1.993
114
EPT011 Epithelioid Leiomyosarcoma 44 1.993
115
OVR058 Ovarian Small Cell Carcinoma 43 1.993
116
BNG041 Benign Metastasizing Leiomyoma 43 1.993
117
END043 Endometrial Stromal Tumor 42 1.993
118
MTN001 Metanephric Adenoma 42 1.993
119
SRC001 Sarcomatoid Mesothelioma 42 1.993
120
P CNG004 Congenital Epulis 42 1.993
121
PLM016 Pleomorphic Carcinoma 42 1.993
122
PRV003 Perivascular Epithelioid Cell Tumor 42 1.993
123
CTN012 Cutaneous Leiomyosarcoma 41 1.993
124
OSS002 Ossifying Fibromyxoid Tumor 41 1.993
125
PLM068 Pulmonary Vein Stenosis 41 1.993
126
INF046 Infantile Digital Fibromatosis 39 1.993
127
LYM095 Lymphangiomatosis 37 1.993
128
RTR007 Retroperitoneal Leiomyosarcoma 36 1.993
129
CLL005 Cellular Leiomyoma 36 1.993
130
PRC011 Parachordoma 34 1.993
131
TST037 Testicular Sex Cord-Stromal Tumor 33 1.993
132
GST036 Gastric Leiomyosarcoma 32 1.993
133
MLG018 Malignant Giant Cell Tumor of Soft Parts 30 1.993
134
SPH012 Spheroid Body Myopathy 29 1.993
135
SPN009 Spindle Cell Rhabdomyosarcoma 29 1.993
136
FBR001 Fibrous Meningioma 28 1.993
137
CYT006 Cytoplasmic Body Myopathy 28 1.993
138
SPN048 Spindle Cell Thymoma 26 1.993
139
LRG003 Large Cell Medulloblastoma 26 1.993
140
ENM001 Enamel Caries 21 1.993
141
RDC010 Reducing Body Myopathy 18 1.993
142
c INF031 Inflammatory Leiomyosarcoma 14 1.993
143
c OVR041 Ovarian Benign Neoplasm 7 1.993
144
c SBC007 Subacute Thyroiditis 45 1.778
145
TNF002 Toni-Fanconi Syndrome 8 1.668
146
c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 17 1.645
147
TWN003 Townes-Brocks Syndrome 62 1.630
148
P KLL001 Kallmann Syndrome 55 1.630
149
18Q002 18q Deletion Syndrome 33 1.630
150
P MNS007 Monosomy 18p 28 1.630
151
NNR006 Non-Eruption of Teeth - Maxillary Hypoplasia - Genu Valgum 15 1.630
152
ULN014 Ulnar Hemimelia 13 1.630
153
SYM014 Symbrachydactyly of Hands and Feet 12 1.630
154
CFF003 Caffey Disease 51 1.611
155
NXS001 Naxos Disease 47 1.611
156
46X029 46xx Sex Reversal 1 43 1.611
157
FHR001 Fuhrmann Syndrome 30 1.611
158
IVC001 Ivic Syndrome 28 1.611
159
SPR031 Sprengel Deformity 24 1.611
160
GLT018 Glut1 Deficiency Syndrome 1 22 1.611
161
VRL015 Verloes Van Maldergem Marneffe Syndrome 19 1.611
162
c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 17 1.611
163
OCL057 Oculotrichodysplasia 14 1.611
164
ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 10 1.611
165
IRS006 Iris Dysplasia Hypertelorism Deafness 9 1.611
166
c 3Q2004 3q26 Microduplication Syndrome 8 1.611
167
ULN008 Ulnar Hypoplasia Lobster Claw Deformity of Feet 6 1.611
168
HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 3 1.611
169
SHR014 Short Stature Contractures Hypotonia 2 1.611
170
c CRD092 Cardiomyopathy, Dilated, 1w 52 1.409
171
c ATS136 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 10 1.409
172
P LKM002 Leukemia 77 0.311
173
c MYL006 Myeloid Leukemia 72 0.239
174
P ACT019 Acute Myeloid Leukemia 92 0.237
175
c HPT021 Hepatitis 64 0.163
176
MNT147 Mental Retardation 51 0.163
177
HPT023 Hepatocellular Carcinoma 79 0.161
178
c SCL016 Scleroderma 64 0.159
179
c THY032 Thyroiditis 66 0.154
180
c LNG028 Long Qt Syndrome 64 0.138
181
MYL040 Myelodysplastic Syndromes 79 0.125
182
P BCL006 B-Cell Lymphomas 49 0.121
183
END072 Endotheliitis 50 0.119
184
P BRS047 Breast Cancer 100 0.114
185
P GLM007 Glomerulonephritis 68 0.114
186
P ADN016 Adenocarcinoma 58 0.114
187
CRB009 Cerebritis 39 0.112
188
P DFF005 Diffuse Large B-Cell Lymphoma 60 0.109
189
PRS047 Prostatitis 60 0.107
190
MCR010 Microcephaly 54 0.104
191
SPR010 Sporotrichosis 52 0.104
192
P INT063 Intellectual Disability 50 0.104
193
c ATM011 Autoimmune Hepatitis 60 0.096
194
c DYS154 Dystonia 59 0.096
195
SRC014 Sarcoma 69 0.093
196
NRP001 Neuropathy 61 0.093
197
c MLT074 Multiple Endocrine Neoplasia 59 0.093
198
P HYP075 Hypertension 85 0.090
199
P SHR002 Short Stature 64 0.090
200
c MSC005 Muscular Dystrophy 62 0.090
201
EPD016 Epidermolysis Bullosa 56 0.090
202
ANR040 Aneurysm 44 0.090
203
P PRK002 Parkinson's Disease 92 0.087
204
c ATX004 Ataxia 58 0.087
205
CVR010 Cavernous Malformation 36 0.087
206
HDG007 Hodgkin's Lymphoma 92 0.084
207
ADN018 Adenoma 64 0.084
208
MMB002 Membranous Glomerulonephritis 51 0.084
209
HYP005 Hypokalemia 47 0.084
210
P SCH015 Schizophrenia 82 0.081
211
P CRV039 Cervicitis 57 0.081
212
RTN023 Retinitis 53 0.081
213
NRN002 Neuronitis 43 0.081
214
SYN053 Syndromic Diarrhea 32 0.081
215
P CHR071 Charcot-Marie-Tooth Disease 70 0.077
216
P ANG001 Angelman Syndrome 70 0.077
217
c HPT016 Hepatitis B 68 0.077
218
P HPT001 Hepatitis C 66 0.077
219
c ACT073 Acute Leukemia 56 0.077
220
TTH006 Tooth Disease 55 0.077
221
P FLL037 Follicular Lymphoma 46 0.077
222
KRT012 Keratoderma 45 0.077
223
P MYC007 Myocardial Infarction 92 0.074
224
P LNG032 Lung Cancer 72 0.074
225
OBS002 Obsessive-Compulsive Disorder 72 0.074
226
c HYP069 Hyperparathyroidism 64 0.074
227
P MLN008 Melanoma 63 0.074
228
CLR003 Clear Cell Adenocarcinoma 52 0.074
229
THR013 Thoracic Outlet Syndrome 52 0.074
230
ECT006 Ectodermal Dysplasia 49 0.074
231
P ART022 Arthritis 75 0.070
232
P MGR002 Migraine 69 0.070
233
ZLL002 Zollinger-Ellison Syndrome 65 0.070
234
P HLP001 Holoprosencephaly 64 0.070
235
P ATS007 Autism Spectrum Disorder 59 0.070
236
c LYM026 Lymphoblastic Leukemia 54 0.070
237
HYP265 Hypotonia 41 0.070
238
P AMY001 Amyotrophic Lateral Sclerosis 98 0.066
239
P FML011 Familial Adenomatous Polyposis 85 0.066
240
LSC001 Lesch-Nyhan Syndrome 77 0.066
241
LSH001 Leishmaniasis 74 0.066
242
c PNC044 Pancreatitis 69 0.066
243
ACT119 Acute Promyelocytic Leukemia 66 0.066
244
ANR002 Aniridia 65 0.066
245
c HYP061 Hypertrophic Cardiomyopathy 63 0.066
246
c KDN018 Kidney Disease 62 0.066
247
WLF002 Wolf-Hirschhorn Syndrome 59 0.066
248
PRT039 Proteinuria 57 0.066
249
P MYC008 Myocarditis 57 0.066
250
P INT030 Intracranial Aneurysm 57 0.066
251
c CTR002 Cataract 57 0.066
252
c CHR285 Chronic Myelomonocytic Leukemia 56 0.066
253
c HMP006 Hemiplegic Migraine 51 0.066
254
c DRR001 Diarrhea 51 0.066
255
c MNS008 Monosomy 21 31 0.066
256
CYT019 Cytogenetically Normal Acute Myeloid Leukemia 26 0.066
257
P RHM011 Rheumatoid Arthritis 93 0.062
258
P PRS040 Prostate Cancer 87 0.062
259
AND002 Androgen Insensitivity Syndrome 80 0.062
260
VNH001 Von Hippel-Lindau Disease 80 0.062
261
P LPR003 Leprosy 77 0.062
262
P RBN001 Rubinstein-Taybi Syndrome 75 0.062
263
PRT036 Peritonitis 71 0.062
264
P PRM019 Premature Ovarian Failure 66 0.062
265
MNT001 Mantle Cell Lymphoma 64 0.062
266
P ESP024 Esophagitis 63 0.062
267
P RNL014 Renal Cell Carcinoma 62 0.062
268
c HMR012 Hemorrhagic Fever 60 0.062
269
c LCL006 Localized Scleroderma 59 0.062
270
c CNG015 Congenital Diaphragmatic Hernia 58 0.062
271
LPT001 Leptospirosis 53 0.062
272
P CLF002 Cleft Palate 52 0.062
273
c VSC005 Vesicoureteral Reflux 50 0.062
274
HMT018 Hematopoietic Stem Cell Transplantation 40 0.062
275
P OBS005 Obesity 89 0.057
276
TBR010 Tuberculosis 83 0.057
277
P RTT002 Rett Syndrome 82 0.057
278
P CLN016 Colon Cancer 78 0.057
279
P PNM007 Pneumonia 76 0.057
280
c NNN003 Noonan Syndrome 73 0.057
281
ATS001 Autistic Disorder 71 0.057
282
c THR014 Thrombocytopenia 70 0.057
283
c CRN037 Craniosynostosis 70 0.057
284
ACN002 Acanthosis Nigricans 69 0.057
285
c NTR004 Neutropenia 64 0.057
286
ART019 Aortic Valve Stenosis 64 0.057
287
c CHR129 Charcot-Marie-Tooth Disease Type 1a 64 0.057
288
ART005 Arteriovenous Malformation 62 0.057
289
VGN023 Vaginitis 62 0.057
290
P GLC007 Glaucoma 60 0.057
291
CLF001 Cleft Lip 59 0.057
292
MYC002 Mycobacterium Avium Complex Disease 58 0.057
293
HYP266 Hypoxia 57 0.057
294
P GND004 Gonadal Dysgenesis 52 0.057
295
c WLM002 Wilms Tumor 51 0.057
296
TCD001 Tic Disorder 48 0.057
297
CRN030 Coronary Stenosis 43 0.057
298
P ATX010 Ataxia Neuropathy Spectrum 41 0.057
299
SPL040 Split Hand 40 0.057
300
GRM004 Germinoma 39 0.057
301
SPS057 Spasticity 37 0.057
302
FCL003 Facial Hemiatrophy 32 0.057
303
AND005 Androgen Insensitivity Syndrome, Mild 21 0.057
304
P NRF002 Neurofibromatosis 93 0.052
305
KPS001 Kaposi's Sarcoma 85 0.052
306
MRF001 Marfan Syndrome 83 0.052
307
P DLT002 Dilated Cardiomyopathy 82 0.052
308
ADR007 Adrenoleukodystrophy 77 0.052
309
PTZ001 Peutz-Jeghers Syndrome 76 0.052
310
P MLR004 Malaria 75 0.052
311
ANK002 Ankylosing Spondylitis 74 0.052
312
c PRM002 Primary Hyperoxaluria 72 0.052
313
c THL005 Thalassemia 72 0.052
314
P LVR013 Liver Disease 69 0.052
315
P PRM005 Primary Hyperparathyroidism 68 0.052
316
P TRN020 Turner Syndrome 66 0.052
317
STT001 Status Epilepticus 65 0.052
318
LRN003 Learning Disability 62 0.052
319
HYP013 Hypohidrotic Ectodermal Dysplasia 62 0.052
320
P HRD011 Hereditary Spherocytosis 62 0.052
321
HYD012 Hydrops Fetalis 61 0.052
322
c MYL007 Myeloma 61 0.052
323
ACQ007 Acquired Immunodeficiency Syndrome 61 0.052
324
RHB003 Rhabdomyosarcoma 57 0.052
325
SNS001 Sensorineural Hearing Loss 57 0.052
326
CRD002 Cri-Du-Chat Syndrome 56 0.052
327
P HYP040 Hypospadias 55 0.052
328
P DWR001 Dwarfism 55 0.052
329
c ACR001 Aicardi-Goutieres Syndrome 53 0.052
330
AND003 Andersen-Tawil Syndrome 53 0.052
331
BLN003 Blindness 52 0.052
332
SPT005 Spotted Fever 52 0.052
333
c CRB126 Cerebral Cavernous Malformation 50 0.052
334
GLM011 Glomerulosclerosis 46 0.052
335
c HPT073 Hepatitis C Virus 45 0.052
336
EPL002 Epilepsy Syndrome 45 0.052
337
P FCS001 Facioscapulohumeral Muscular Dystrophy 44 0.052
338
SYN036 Syncope 44 0.052
339
CRB045 Cerebellar Hypoplasia 39 0.052
340
CLF027 Cleft Palate, Isolated 36 0.052
341
ECH002 Echolalia 26 0.052
342
c DMN011 Dominant Dystrophic Epidermolysis Bullosa 19 0.052
343
c RNG019 Ring Chromosome 3 15 0.052
344
P ATX002 Ataxia Telangiectasia 86 0.047
345
c DBT009 Diabetes Mellitus 78 0.047
346
P PHC003 Pheochromocytoma 78 0.047
347
P CLR023 Colorectal Cancer 73 0.047
348
P MYL005 Myelofibrosis 72 0.047
349
SPS077 Sepsis 70 0.047
350
P MLT042 Multiple Endocrine Neoplasia Type 2a 70 0.047
351
ATH003 Atherosclerosis 68 0.047
352
P BCK002 Beckwith-Wiedemann Syndrome 67 0.047
353
P HML002 Hemolytic Anemia 66 0.047
354
P ANR007 Anorexia Nervosa 66 0.047
355
P INS005 Insulin Resistance 66 0.047
356
c AXN002 Axenfeld-Rieger Syndrome 66 0.047
357
VSC011 Vasculitis 66 0.047
358
CMP005 Campomelic Dysplasia 65 0.047
359
P RCK004 Rickets 64 0.047
360
CLB001 Coloboma 64 0.047
361
ULC004 Ulcerative Colitis 63 0.047
362
P CNJ013 Conjunctivitis 63 0.047
363
c EPD003 Epidermolysis Bullosa Simplex 62 0.047
364
P CRB042 Cerebellar Ataxia 61 0.047
365
KRN002 Kearns-Sayre Syndrome 61 0.047
366
c THN001 Thanatophoric Dysplasia 61 0.047
367
DWN001 Down Syndrome 61 0.047
368
SPT013 Septic Shock 60 0.047
369
P PRM054 Primary Sclerosing Cholangitis 59 0.047
370
P CNG401 Congenital Heart Disease 58 0.047
371
P PLY006 Polydactyly 56 0.047
372
DDN006 Duodenitis 56 0.047
373
c SPN049 Spinocerebellar Ataxia 56 0.047
374
c CTS001 Cutis Laxa 55 0.047
375
APP008 Appendicitis 55 0.047
376
CTN007 Cutaneous Leishmaniasis 55 0.047
377
c TRT010 Teratoma 55 0.047
378
ORL011 Oral Cancer 53 0.047
379
c LYM025 Lymphedema 53 0.047
380
GRW007 Growth Hormone Deficiency 52 0.047
381
P STR020 Strabismus 51 0.047
382
CLN015 Colon Adenocarcinoma 51 0.047
383
ALX002 Alexithymia 51 0.047
384
P SVR003 Severe Congenital Neutropenia 50 0.047
385
HYP077 Hypertrichosis 49 0.047
386
P DYS021 Dysautonomia 48 0.047
387
CHN005 Choanal Atresia 47 0.047
388
c RNL078 Renal Dysplasia 47 0.047
389
EBL001 Ebola Hemorrhagic Fever 45 0.047
390
CYT008 Cytomegalovirus Infection 43 0.047
391
PRL017 Prolymphocytic Leukemia 43 0.047
392
c ACT004 Acute Diarrhea 43 0.047
393
SML028 Semilobar Holoprosencephaly 39 0.047
394
BLP004 Blepharophimosis 37 0.047
395
c RNG023 Ring Chromosome 7 36 0.047
396
HRD025 Hereditary Neuropathy with Liability to Pressure Palsies 36 0.047
397
HRD088 Hereditary Neuropathies 32 0.047
398
SPR083 Sporadic Hemiplegic Migraine 30 0.047
399
c BNG076 Benign Exophthalmos Syndrome 22 0.047
400
CYS001 Cystic Fibrosis 96 0.040
401
CDS001 Cadasil 84 0.040
402
P MLT019 Multiple Myeloma 82 0.040
403
P SMT004 Smith-Lemli-Opitz Syndrome 82 0.040
404
P RTN024 Retinoblastoma 81 0.040
405
P LBR001 Leber Congenital Amaurosis 81 0.040
406
P WSK001 Wiskott-Aldrich Syndrome 78 0.040
407
P MNN012 Meningioma 78 0.040
408
CLD001 Cleidocranial Dysplasia 77 0.040
409
P PLZ001 Pelizaeus-Merzbacher Disease 77 0.040
410
DCH001 Duchenne Muscular Dystrophy 74 0.040
411
THY028 Thyroid Cancer 73 0.040
412
P FCL005 Focal Segmental Glomerulosclerosis 72 0.040
413
P AST007 Astrocytoma 71 0.040
414
BLS001 Blau Syndrome 71 0.040
415
c CHR065 Chronic Myeloid Leukemia 71 0.040
416
WLF001 Wolff-Parkinson-White Syndrome 70 0.040
417
P NRB001 Neuroblastoma 70 0.040
418
SCH014 Schistosomiasis 70 0.040
419
P HMN010 Hemangioma 70 0.040
420
P MLT020 Multiple Sclerosis 69 0.040
421
P DRV001 Dravet Syndrome 69 0.040
422
DRM006 Dermatitis 69 0.040
423
c HYP086 Hypothyroidism 69 0.040
424
P RSP003 Respiratory Failure 68 0.040
425
P INF038 Influenza 68 0.040
426
P AMY004 Amyloidosis 67 0.040
427
c HMP007 Hemophilia 67 0.040
428
DMN002 Dementia 66 0.040
429
P LNG044 Long Qt Syndrome 1 66 0.040
430
P CNG030 Congenital Muscular Dystrophy 65 0.040
431
HYP004 Hypercalcemia 65 0.040
432
c UVT001 Uveitis 65 0.040
433
P LRY019 Laryngitis 65 0.040
434
c ENC004 Encephalitis 65 0.040
435
c NRN021 Neuronal Ceroid Lipofuscinosis 64 0.040
436
CRB039 Cerebrovascular Disease 64 0.040
437
PRC002 Paracoccidioidomycosis 64 0.040
438
CHG001 Chagas Disease 62 0.040
439
c PRP029 Porphyria 61 0.040
440
VCT001 Vacterl Association 61 0.040
441
P CND004 Candidiasis 61 0.040
442
CTS003 Coats Disease 61 0.040
443
PSY004 Psychotic Disorder 60 0.040
444
BRN002 Bronchiolitis 60 0.040
445
ALP004 Alport Syndrome 60 0.040
446
P PRM124 Primary Hyperoxaluria Type 1 60 0.040
447
ACR008 Acrocallosal Syndrome 59 0.040
448
JCB001 Jacobsen Syndrome 59 0.040
449
BRN012 Bronchiolitis Obliterans 59 0.040
450
GLB015 Glioblastoma Multiforme 59 0.040
451
YLL002 Yellow Fever 58 0.040
452
CLL003 Cellulitis 58 0.040
453
DPH001 Diphtheria 58 0.040
454
HDC001 Headache 58 0.040
455
c HYP065 Hyperaldosteronism 57 0.040
456
c ANG015 Angioedema 57 0.040
457
SMT015 Smith Magenis Syndrome 56 0.040
458
P MLG077 Malignant Peripheral Nerve Sheath Tumor 56 0.040
459
P MYM002 Moyamoya Disease 56 0.040
460
CHR031 Chromoblastomycosis 56 0.040
461
c LSS002 Lissencephaly 56 0.040
462
MYL003 Myeloid Sarcoma 56 0.040
463
c HYP060 Hyperinsulinism 55 0.040
464
c BRC006 Brachydactyly 55 0.040
465
c DST002 Distal Arthrogryposis 54 0.040
466
P ESN008 Eosinophilic Pneumonia 54 0.040
467
P CHL066 Cholangitis 54 0.040
468
MYC011 Myoclonus-Dystonia 54 0.040
469
c SYN005 Synostosis 54 0.040
470
MCR004 Macroglobulinemia 54 0.040
471
ART001 Arterial Tortuosity Syndrome 54 0.040
472
P PPL005 Papillary Renal Cell Carcinoma 54 0.040
473
KLN001 Klinefelter's Syndrome 52 0.040
474
HMP005 Hemiplegia 52 0.040
475
P MCR013 Microphthalmia 52 0.040
476
P OMP004 Omphalocele 52 0.040
477
c FBR031 Febrile Seizures 51 0.040
478
PYD002 Pyoderma 51 0.040
479
c TCL004 T-Cell Leukemia 50 0.040
480
c STS001 Sotos Syndrome 49 0.040
481
MCR020 Microsporidiosis 49 0.040
482
LGN002 Legionellosis 49 0.040
483
c SCL009 Sclerosing Cholangitis 49 0.040
484
PRP036 Peripheral T-Cell Lymphoma 48 0.040
485
MTS001 Mutism 48 0.040
486
IMP002 Imperforate Anus 48 0.040
487
BLT006 Bilateral Breast Cancer 48 0.040
488
c CHR037 Chronic Eosinophilic Pneumonia 47 0.040
489
MMB001 Membranoproliferative Glomerulonephritis 47 0.040
490
FRN002 Frontal Lobe Epilepsy 47 0.040
491
PNH001 Panhypopituitarism 45 0.040
492
CRV045 Cervical Intraepithelial Neoplasia 45 0.040
493
c ART084 Arteriovenous Fistula 45 0.040
494
MYC033 Myoclonus 45 0.040
495
CRP010 Corpus Callosum Agenesis 44 0.040
496
c APH002 Aphasia 44 0.040
497
CRS001 Crescentic Glomerulonephritis 43 0.040
498
EPS026 Epispadias 42 0.040
499
c TRS004 Torsion Dystonia 41 0.040
500
P VGN017 Vaginal Cancer 40 0.040
501
P END046 Endometritis 40 0.040
502
P MYF003 Myofibrillar Myopathy 40 0.040
503
CRB086 Cerebral Aneurysms 38 0.040
504
SPL039 Split Foot 38 0.040
505
c MYC068 Myoclonic Epilepsy of Infancy 37 0.040
506
HPT063 Hepatitis B Virus Infection 36 0.040
507
HNS001 Hansen's Disease 36 0.040
508
INT052 Intestinal Volvulus 33 0.040
509
P SLP003 Salpingitis 33 0.040
510
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 32 0.040
511
TNG001 Tungiasis 29 0.040
512
CHR056 Chronic Tic Disorder 26 0.040
513
P BCL005 B Cell Prolymphocytic Leukemia 26 0.040
514
SNL003 Senile Angioma 20 0.040
515
P LFR001 Li-Fraumeni Syndrome 87 0.033
516
P SYS001 Systemic Lupus Erythematosus 85 0.033
517
P HNT001 Huntington's Disease 85 0.033
518
FBR012 Fabry Disease 81 0.033
519
P HRD008 Hereditary Hemorrhagic Telangiectasia 81 0.033
520
P RTN008 Retinitis Pigmentosa 80 0.033
521
P OST018 Osteosarcoma 79 0.033
522
ACH004 Achondroplasia 78 0.033
523
P HMP004 Hemophilia B 77 0.033
524
P GCH001 Gaucher's Disease 77 0.033
525
ACT033 Acute Intermittent Porphyria 76 0.033
526
LVR012 Liver Cirrhosis 75 0.033
527
P OST002 Osteoporosis 75 0.033
528
TTR001 Tetralogy of Fallot 74 0.033
529
CRH001 Crohn's Disease 74 0.033
530
21H001 21-Hydroxylase Deficiency 73 0.033
531
c LPS004 Lupus Erythematosus 72 0.033
532
SCK003 Sickle Cell Anemia 72 0.033
533
c OST005 Osteogenesis Imperfecta 72 0.033
534
PRG004 Progeria 72 0.033
535
P TMP003 Temporal Arteritis 71 0.033
536
P PRD006 Prader-Willi Syndrome 71 0.033
537
P WGN002 Wegener's Granulomatosis 71 0.033
538
CHR012 Chronic Granulomatous Disease 70 0.033
539
P LYN001 Lynch Syndrome 70 0.033
540
FBR011 Fibrodysplasia Ossificans Progressiva 69 0.033
541
VNW001 Von Willebrand's Disease 69 0.033
542
CHL065 Cholangiocarcinoma 69 0.033
543
LKC001 Leukocyte Adhesion Deficiency 68 0.033
544
ANX002 Anxiety Disorder 68 0.033
545
P HYD006 Hydrocephalus 68 0.033
546
P HRP006 Herpes Simplex 66 0.033
547
P PRD008 Periodontitis 66 0.033
548
P CRN008 Carney Complex 66 0.033
549
LGG001 Legg-Calve-Perthes Disease 65 0.033
550
c SPN046 Spinal Muscular Atrophy 65 0.033
551
c TXP001 Toxoplasmosis 65 0.033
552
c JVN010 Juvenile Rheumatoid Arthritis 65 0.033
553
c MYT002 Myotonic Dystrophy 65 0.033
554
GST034 Gastroesophageal Reflux Disease 64 0.033
555
P PCH001 Pachyonychia Congenita 64 0.033
556
PRL009 Prolactinoma 63 0.033
557
c EHL001 Ehlers-Danlos Syndrome 63 0.033
558
TRN018 Transitional Cell Carcinoma 63 0.033
559
HYP056 Hypoglycemia 63 0.033
560
c FML010 Familial Medullary Thyroid Carcinoma 63 0.033
561
CHR081 Choroideremia 63 0.033
562
P EPN002 Ependymoma 62 0.033
563
HYP066 Hyperglycemia 62 0.033
564
DSS009 Disseminated Intravascular Coagulation 62 0.033
565
PLM014 Pleomorphic Adenoma 62 0.033
566
BRN028 Brain Cancer 62 0.033
567
P HYP055 Hypoplastic Left Heart Syndrome 62 0.033
568
P ANP001 Anaplastic Large Cell Lymphoma 62 0.033
569
WST001 West Syndrome 62 0.033
570
BBS001 Babesiosis 61 0.033
571
HV1006 Hiv-1 61 0.033
572
c PLY014 Polycystic Kidney Disease 61 0.033
573
BCK001 Becker Muscular Dystrophy 61 0.033
574
P DDN001 Duodenal Ulcer 60 0.033
575
TYP007 Typhoid Fever 60 0.033
576
WLL003 Williams Syndrome 60 0.033
577
P PLY019 Polyneuropathy 60 0.033
578
c ATM010 Autoimmune Hemolytic Anemia 60 0.033
579
P GRF002 Graft Versus Host Disease 60 0.033
580
DBL002 Double Outlet Right Ventricle 60 0.033
581
RBR001 Roberts Syndrome 60 0.033
582
P PRC019 Precocious Puberty 60 0.033
583
XLN001 X-Linked Ichthyosis 60 0.033
584
c ALM001 Al Amyloidosis 59 0.033
585
OTT002 Otitis Media 59 0.033
586
P HYP080 Hypogonadism 59 0.033
587
SRT004 Serotonin Syndrome 59 0.033
588
VSC003 Visceral Leishmaniasis 59 0.033
589
LPD010 Lipodystrophy 59 0.033
590
CHL014 Cholera 59 0.033
591
MLL005 Miller-Dieker Syndrome 59 0.033
592
c GLY013 Glycogen Storage Disease 59 0.033
593
P TRN001 Transthyretin Amyloidosis 58 0.033
594
BLM002 Bulimia Nervosa 58 0.033
595
c TYR004 Tyrosinemia 58 0.033
596
P ALT001 Alternating Hemiplegia of Childhood 58 0.033
597
P ALP006 Alpha Thalassemia 58 0.033
598
NRN004 Neuroendocrine Tumor 58 0.033
599
INT054 Intraocular Lymphoma 58 0.033
600
END030 End Stage Renal Failure 58 0.033
601
P DBT005 Diabetes Insipidus 57 0.033
602
P SYP003 Syphilis 57 0.033
603
PST021 Postpartum Depression 57 0.033
604
P HYP024 Hypoparathyroidism 57 0.033
605
c FML023 Familial Hemiplegic Migraine 57 0.033
606
P CNG021 Congenital Toxoplasmosis 57 0.033
607
P RNL007 Renal Tubular Acidosis 57 0.033
608
SCN006 Secondary Syphilis 57 0.033
609
ANK001 Ankylosis 57 0.033
610
ALP008 Alopecia 56 0.033
611
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 56 0.033
612
P RTN012 Retinopathy of Prematurity 56 0.033
613
BRJ001 Borjeson-Forssman-Lehmann Syndrome 56 0.033
614
SLP001 Sleeping Sickness 56 0.033
615
c SCK002 Sick Sinus Syndrome 56 0.033
616
P HYP014 Hyperuricemia 56 0.033
617
P RCS002 Recessive Dystrophic Epidermolysis Bullosa 56 0.033
618
CRN005 Craniofrontonasal Syndrome 55 0.033
619
c CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 55 0.033
620
VNS009 Venous Thrombosis 55 0.033
621
c ACT117 Acute Myelomonocytic Leukemia 55 0.033
622
CHR008 Choroiditis 55 0.033
623
OCL006 Ocular Hypertension 55 0.033
624
IMP005 Impotence 55 0.033
625
P INF032 Infertility 55 0.033
626
P CRV043 Cervical Dystonia 55 0.033
627
RFT001 Rift Valley Fever 54 0.033
628
NPH051 Nephritis 54 0.033
629
CTY001 Cat Eye Syndrome 54 0.033
630
c ART070 Aortic Valve Disease 54 0.033
631
LYM040 Lymphoblastic Lymphoma 54 0.033
632
SCH012 Schizoaffective Disorder 54 0.033
633
c LTR001 Lateral Sclerosis 54 0.033
634
CNS004 Constipation 53 0.033
635
P MSC003 Muscular Atrophy 53 0.033
636
PRM163 Primary Mediastinal Large B-Cell Lymphoma 53 0.033
637
c DFF019 Diffuse Gastric Cancer 53 0.033
638
PRN009 Paranoid Schizophrenia 53 0.033
639
PLY013 Polymyalgia Rheumatica 52 0.033
640
HMG002 Hemoglobinuria 52 0.033
641
P HYP083 Hypopituitarism 52 0.033
642
P LDD002 Liddle Syndrome 52 0.033
643
c INF016 Infantile Epileptic Encephalopathy 52 0.033
644
P CYS010 Cystinosis 52 0.033
645
TRD006 Tardive Dyskinesia 51 0.033
646
ISL003 Isolated Growth Hormone Deficiency 51 0.033
647
RSC001 Rosacea 50 0.033
648
CRN020 Coronary Restenosis 50 0.033
649
c OPT004 Optic Atrophy 50 0.033
650
SBS003 Substance Abuse 49 0.033
651
P ALV004 Alveolar Rhabdomyosarcoma 49 0.033
652
P SPN052 Spondyloarthropathy 49 0.033
653
GNG002 Ganglioneuroma 49 0.033
654
P NML001 Nemaline Myopathy 49 0.033
655
RFR010 Refractory Anemia 48 0.033
656
DRG011 Drug Addiction 48 0.033
657
P HML001 Hemolytic-Uremic Syndrome 48 0.033
658
DRY001 Dry Eye Syndrome 47 0.033
659
PRP016 Paraplegia 47 0.033
660
P SPR013 Spiradenoma 47 0.033
661
SCR024 Sacrococcygeal Teratoma 46 0.033
662
SCH016 Schimke Immunoosseous Dysplasia 46 0.033
663
c PRL003 Proliferative Glomerulonephritis 46 0.033
664
c CNT075 Central Precocious Puberty 46 0.033
665
MDS022 Mediastinitis 46 0.033
666
P INF037 Inflammatory Bowel Disease 45 0.033
667
c SPN069 Spinocerebellar Ataxia Type 7 45 0.033
668
c FML156 Familial Hyperaldosteronism 45 0.033
669
DYS018 Dysostosis 45 0.033
670
c INS004 Insomnia 45 0.033
671
TND005 Tendinitis 45 0.033
672
P AZS001 Azoospermia 45 0.033
673
CMP034 Complete Androgen Insensitivity Syndrome 45 0.033
674
SFT003 Soft Tissue Sarcoma 45 0.033
675
CRT015 Carotid Artery Occlusion 44 0.033
676
HRS011 Horseshoe Kidney 44 0.033
677
ILS001 Ileus 44 0.033
678
BRS090 Breast Reconstruction 44 0.033
679
P CYS017 Cystic Teratoma 44 0.033
680
FTT001 Fatty Liver Disease 43 0.033
681
PRR010 Pierre Robin Sequence 43 0.033
682
c CHR417 Chronic Graft Versus Host Disease 43 0.033
683
DXT001 Dextrocardia 43 0.033
684
IMP006 Impulse Control Disorder 43 0.033
685
PHC013 Phaeochromocytoma 42 0.033
686
HTS001 Hiatus Hernia 42 0.033
687
c CHR104 Chorea 42 0.033
688
XLN005 X-Linked Hyper Igm Syndrome 42 0.033
689
SML019 Smallpox 42 0.033
690
TTR016 Tetra-Amelia Syndrome 41 0.033
691
RCT011 Rectal Prolapse 41 0.033
692
MYC017 Mycobacterium Kansasii 41 0.033
693
P RSM001 Rasmussen Encephalitis 41 0.033
694
ANN005 Annular Pancreas 41 0.033
695
SPS019 Spastic Paraparesis 41 0.033
696
ANG046 Angioimmunoblastic T-Cell Lymphoma 40 0.033
697
MCK002 Meckel's Diverticulum 40 0.033
698
c PNT019 Pontocerebellar Hypoplasia 40 0.033
699
TTH016 Tooth Agenesis, Selective, 1, with or Without Orofacial Cleft 40 0.033
700
c MYP006 Myopia 40 0.033
701
P MNN007 Meningocele 40 0.033
702
AND001 Anodontia 39 0.033
703
MYS004 Myiasis 38 0.033
704
CHL061 Childhood Leukemia 38 0.033
705
ENC011 Encephalomyopathy 38 0.033
706
TTH001 Tooth Ankylosis 38 0.033
707
TND004 Tendinopathy 38 0.033
708
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 38 0.033
709
PRS045 Prostatic Hypertrophy 37 0.033
710
22Q001 22q11.2 Duplication 37 0.033
711
XRP001 Xerophthalmia 37 0.033
712
MVM001 Movement Disease 35 0.033
713
MTC004 Mitochondrial Encephalomyopathy 35 0.033
714
RCH001 Richter's Syndrome 35 0.033
715
c BRT040 Baraitser-Winter Syndrome 34 0.033
716
PLM074 Pulmonary Function 34 0.033
717
15Q001 15q13.3 Microdeletion 33 0.033
718
DRF001 Dirofilariasis 33 0.033
719
HYP101 Hyperinsulinism-Hyperammonemia Syndrome 33 0.033
720
GRD006 Geroderma Osteodysplastica 32 0.033
721
CLR109 Colorectal Adenocarcinoma 32 0.033
722
CNG219 Congenital Aural Atresia 31 0.033
723
c LNG048 Long Qt Syndrome 3 31 0.033
724
P LTT004 Lattice Corneal Dystrophy Type 1 30 0.033
725
c SCP001 Sc Phocomelia Syndrome 30 0.033
726
ENT001 Enterocele 29 0.033
727
c RNG022 Ring Chromosome 6 29 0.033
728
ECS001 Eec Syndrome 29 0.033
729
c PHC014 Phocomelia 28 0.033
730
PLC009 Placenta Praevia 28 0.033
731
TFT003 Tufting Enteropathy 28 0.033
732
c CHR193 Chromosome 13q Deletion 28 0.033
733
DDN009 Duodenal Obstruction 28 0.033
734
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 28 0.033
735
HRT011 Heart Septal Defect 28 0.033
736
CPG001 Capgras Syndrome 27 0.033
737
END016 Endocervicitis 27 0.033
738
P HYP163 Hyperlipidemia Type 3 27 0.033
739
P HYP078 Hypertrophy of Breast 25 0.033
740
c RNG013 Ring Chromosome 18 24 0.033
741
ART034 Aortopulmonary Window 24 0.033
742
c RNG016 Ring Chromosome 20 23 0.033
743
ART007 Aorta Atresia 22 0.033
744
BFD003 Bifid Uvula 21 0.033
745
MN1001 Mn1 21 0.033
746
SML025 Small Non-Cleaved Cell Lymphoma 21 0.033
747
CLR033 Color Vision Deficiency 19 0.033
748
CLP002 Colpocephaly 17 0.033
749
GRN021 Granulomatous Rosacea 17 0.033
750
P ADL001 Adult Lymphoma 17 0.033
751
SBM006 Submucosal Cleft Palate 16 0.033
752
PRS111 Persistent Fifth Aortic Arch 16 0.033
753
ULR001 Ulerythema Ophryogenesis 15 0.033
754
MNT014 Mental Retardation Epilepsy 15 0.033
755
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 15 0.033
756
MTT004 Metatarsus Adductus 14 0.033
757
TRG006 Trigger Thumb 13 0.033
758
IMM061 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome-2 8 0.033
759
c TYP009 Type 2 Diabetes Mellitus 95 0.023
760
P TYP008 Type 1 Diabetes Mellitus 93 0.023
761
P PNC035 Pancreatic Cancer 91 0.023
762
MTC003 Metachromatic Leukodystrophy 86 0.023
763
P FML021 Familial Hypercholesterolemia 85 0.023
764
PHN003 Phenylketonuria 82 0.023
765
P OVR042 Ovarian Cancer 81 0.023
766
P HRS001 Hirschsprung's Disease 80 0.023
767
SVR004 Severe Combined Immunodeficiency 80 0.023
768
P ALG002 Alagille Syndrome 80 0.023
769
ACR007 Acromegaly 79 0.023
770
P MYS003 Myasthenia Gravis 78 0.023
771
WLS001 Wilson Disease 77 0.023
772
BRK003 Burkitt's Lymphoma 77 0.023
773
c BTT002 Beta Thalassemia 77 0.023
774
P NRL016 Neural Tube Defects 77 0.023
775
P ACT074 Acute Lymphocytic Leukemia 75 0.023
776
CRB011 Cerebrotendinous Xanthomatosis 75 0.023
777
P OST012 Osteoarthritis 75 0.023
778
P HYP035 Hypophosphatasia 75 0.023
779
P PRP003 Porphyria Cutanea Tarda 75 0.023
780
P CLC005 Celiac Disease 74 0.023
781
NRR002 Norrie Disease 74 0.023
782
GLN003 Glanzmann's Thrombasthenia 73 0.023
783
MNK001 Menkes Disease 73 0.023
784
KWS002 Kawasaki Disease 73 0.023
785
P FRG001 Fragile X Syndrome 73 0.023
786
P END042 Endometrial Carcinoma 72 0.023
787
P PRM006 Primary Biliary Cirrhosis 72 0.023
788
CFF002 Coffin-Lowry Syndrome 72 0.023
789
P NRC002 Narcolepsy 71 0.023
790
BRR003 Barrett's Esophagus 71 0.023
791
RNL002 Renal Agenesis 70 0.023
792
P EPD002 Epidermolytic Hyperkeratosis 70 0.023
793
RLP001 Relapsing Polychondritis 70 0.023
794
c HYP095 Hypercholesterolemia 70 0.023
795
MLT021 Multiple System Atrophy 70 0.023
796
VSC007 Vascular Disease 70 0.023
797
FCT001 Factor Viii Deficiency 70 0.023
798
HYP042 Hypochondroplasia 69 0.023
799
P END044 Endometriosis 69 0.023
800
NLP001 Nail-Patella Syndrome 69 0.023
801
SHW002 Shwachman-Diamond Syndrome 68 0.023
802
DNY001 Denys-Drash Syndrome 68 0.023
803
P MLG068 Malignant Glioma 68 0.023
804
CRY005 Cryptococcosis 68 0.023
805
c MNN013 Meningitis 68 0.023
806
KLP002 Klippel-Trenaunay Syndrome 67 0.023
807
PST028 Post-Traumatic Stress Disorder 67 0.023
808
PSD012 Pseudoachondroplasia 67 0.023
809
P DGR001 Digeorge Syndrome 67 0.023
810
P OST009 Osteochondritis Dissecans 67 0.023
811
c GLY028 Glycogen Storage Disease Type 1a 66 0.023
812
P THY023 Thymoma 66 0.023
813
NVD001 Nevoid Basal Cell Carcinoma Syndrome 66 0.023
814
P GST044 Gastritis 66 0.023
815
P BLD042 Bladder Carcinoma 66 0.023
816
P THR015 Thrombophilia 66 0.023
817
MRB003 Morbid Obesity 66 0.023
818
MYS005 Myositis 66 0.023
819
PBL001 Piebaldism 65 0.023
820
P GT001 Gout 65 0.023
821
P HYP117 Hypertriglyceridemia 65 0.023
822
SHG001 Shigellosis 65 0.023
823
P ESS001 Essential Tremor 65 0.023
824
VRG001 Variegate Porphyria 65 0.023
825
PPL022 Papilloma 65 0.023
826
PLS006 Plasmodium Vivax Malaria 65 0.023
827
ANT006 Antiphospholipid Syndrome 65 0.023
828
CRB037 Cerebral Palsy 65 0.023
829
P FML032 Familial Hypertrophic Cardiomyopathy 65 0.023
830
P DYS007 Dyskeratosis Congenita 65 0.023
831
HYP020 Hyperprolactinemia 65 0.023
832
IRR002 Irritable Bowel Syndrome 65 0.023
833
DBT001 Diabetic Ketoacidosis 65 0.023
834
P ALP009 Alopecia Areata 64 0.023
835
MLG056 Malignant Hyperthermia 64 0.023
836
CST001 Costello Syndrome 64 0.023
837
THR079 Thromboembolism 64 0.023
838
P SLV001 Silver-Russell Syndrome 64 0.023
839
P ATP001 Atopic Dermatitis 64 0.023
840
P PRG006 Progressive Supranuclear Palsy 64 0.023
841
c MCP001 Mucopolysaccharidosis Iii 64 0.023
842
BRT005 Barth Syndrome 64 0.023
843
P CNG042 Congenital Central Hypoventilation Syndrome 64 0.023
844
P OLG002 Oligodendroglioma 64 0.023
845
CHR066 Chronic Fatigue Syndrome 64 0.023
846
STR008 Strongyloidiasis 64 0.023
847
P BSL007 Basal Cell Carcinoma 63 0.023
848
CHR103 Charge Syndrome 63 0.023
849
CMM005 Common Cold 63 0.023
850
P HMP002 Hemophagocytic Lymphohistiocytosis 63 0.023
851
c MCP010 Mucopolysaccharidosis 63 0.023
852
P PNC025 Panic Disorder 63 0.023
853
CRY002 Cryptorchidism 63 0.023
854
OCL008 Oculopharyngeal Muscular Dystrophy 63 0.023
855
PTT006 Pituitary Adenoma 63 0.023
856
P VLC001 Velocardiofacial Syndrome 63 0.023
857
FLL032 Follicular Thyroid Carcinoma 63 0.023
858
PSR002 Psoriasis 63 0.023
859
CRN036 Craniopharyngioma 63 0.023
860
c CCK001 Cockayne Syndrome 63 0.023
861
P CRT072 Creutzfeldt-Jakob Disease 62 0.023
862
RHM001 Rheumatic Fever 62 0.023
863
P KRT004 Keratitis 62 0.023
864
DFC004 Deficiency Anemia 62 0.023
865
c TMP001 Temporal Lobe Epilepsy 62 0.023
866
ART031 Aortic Coarctation 62 0.023
867
GNG013 Gingivitis 62 0.023
868
P HLT001 Holt-Oram Syndrome 62 0.023
869
P PRT010 Parathyroid Carcinoma 62 0.023
870
P RBL001 Rubella 62 0.023
871
ARC007 Arachnoid Cysts 61 0.023
872
LCH002 Lichen Planus 61 0.023
873
GLS001 Gliosarcoma 61 0.023
874
c HYP051 Hypokalemic Periodic Paralysis 61 0.023
875
c HRD010 Hereditary Spastic Paraplegia 61 0.023
876
c HYP050 Hyperinsulinemic Hypoglycemia 60 0.023
877
ASP003 Aseptic Meningitis 60 0.023
878
ERY009 Erythropoietic Protoporphyria 60 0.023
879
SCL003 Social Phobia 60 0.023
880
NRL004 Neuroleptic Malignant Syndrome 60 0.023
881
ALP003 Alpers Syndrome 60 0.023
882
P ACT009 Acute Monocytic Leukemia 60 0.023
883
PMP001 Pemphigus 60 0.023
884
HMR004 Hemorrhagic Fever with Renal Syndrome 60 0.023
885
EYD002 Eye Disease 60 0.023
886
c AGM001 Agammaglobulinemia 60 0.023
887
CHL068 Cholestasis 60 0.023
888
VTL002 Vitiligo 60 0.023
889
PRM027 Primitive Neuroectodermal Tumor 60 0.023
890
KRT001 Keratoconjunctivitis Sicca 60 0.023
891
PTH002 Pathological Gambling 60 0.023
892
ANG020 Angiosarcoma 60 0.023
893
P CRV035 Cervical Cancer 60 0.023
894
WGR001 Wagr Syndrome 59 0.023
895
OLG003 Oligohydramnios 59 0.023
896
P ATY010 Atypical Hemolytic-Uremic Syndrome 59 0.023
897
P SYN007 Synovitis 59 0.023
898
SPN020 Spondylosis 59 0.023
899
ANT011 Antisocial Personality Disorder 59 0.023
900
RTN025 Retinoschisis 59 0.023
901
P THN004 Thanatophoric Dysplasia Type 1 59 0.023
902
c ACT075 Acute Myocardial Infarction 59 0.023
903
MGC001 Megacolon 59 0.023
904
c ESS003 Essential Thrombocythemia 59 0.023
905
P LRY016 Laryngeal Carcinoma 59 0.023
906
c DMN001 Diamond-Blackfan Anemia 59 0.023
907
P MTR005 Mitral Valve Prolapse 59 0.023
908
CND002 Conduct Disorder 59 0.023
909
c HPT003 Hepatitis a 59 0.023
910
OST014 Osteopoikilosis 58 0.023
911
TST014 Testicular Cancer 58 0.023
912
SCK005 Sickle Cell Disease 58 0.023
913
c MNC007 Monocytic Leukemia 58 0.023
914
P PRS038 Personality Disorder 58 0.023
915
MTC007 Mitochondrial Complex I Deficiency 58 0.023
916
P HMC002 Homocystinuria 58 0.023
917
P MCH002 Machado-Joseph Disease 58 0.023
918
P MLN007 Male Infertility 58 0.023
919
OST017 Osteomyelitis 58 0.023
920
P PPL020 Papillary Thyroid Carcinoma 58 0.023
921
CNN005 Connective Tissue Disease 58 0.023
922
CPL006 Capillary Hemangioma 58 0.023
923
GNR004 Generalized Anxiety Disorder 58 0.023
924
c VRN002 Variant Creutzfeldt-Jakob Disease 58 0.023
925
AMN001 Amenorrhea 57 0.023
926
CRY004 Cryoglobulinemia 57 0.023
927
c OPN001 Open-Angle Glaucoma 57 0.023
928
c JBR001 Joubert Syndrome 57 0.023
929
HRY003 Hairy Cell Leukemia 57 0.023
930
THY033 Thyrotoxicosis 57 0.023
931
MRG003 Marginal Zone B-Cell Lymphoma 57 0.023
932
ESP020 Esophageal Atresia 57 0.023
933
P MYT006 Myotonic Dystrophy Type 1 57 0.023
934
c TRC011 Treacher Collins Syndrome 57 0.023
935
BRN071 Brain Injury 57 0.023
936
KDS001 Kid Syndrome 57 0.023
937
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57 0.023
938
RBS001 Rabies 57 0.023
939
P CTR001 Citrullinemia 57 0.023
940
P HRD007 Hereditary Lymphedema 57 0.023
941
IRN001 Iron Deficiency Anemia 57 0.023
942
TNS005 Tonsillitis 57 0.023
943
P ICH001 Ichthyosis Vulgaris 57 0.023
944
P XRD018 Xeroderma Pigmentosum, Group a 57 0.023
945
ACN011 Acne 57 0.023
946
NRH001 Neurohypophyseal Diabetes Insipidus 56 0.023
947
LDP002 Lead Poisoning 56 0.023
948
NDL013 Nodular Regenerative Hyperplasia 56 0.023
949
c HRD002 Hereditary Angioedema 56 0.023
950
P END033 Endocarditis 56 0.023
951
P RTN022 Retinal Vein Occlusion 56 0.023
952
MGK001 Megakaryocytic Leukemia 56 0.023
953
c DNT011 Dentinogenesis Imperfecta 56 0.023
954
SSN001 Seasonal Affective Disorder 56 0.023
955
ART017 Aortic Disease 56 0.023
956
P HYP097 Hyperekplexia 55 0.023
957
HMM003 Hemimegalencephaly 55 0.023
958
TLP001 Talipes Equinovarus 55 0.023
959
ANR018 Anorchia 55 0.023
960
PYD001 Pyoderma Gangrenosum 55 0.023
961
PRT011 Protein C Deficiency 55 0.023
962
P PMP005 Pemphigus Vulgaris 55 0.023
963
c TRM003 Tremor 55 0.023
964
MCR088 Microscopic Polyangiitis 55 0.023
965
MNL001 Monilethrix 55 0.023
966
PRD007 Periodontal Disease 55 0.023
967
RST001 Restless Legs Syndrome 55 0.023
968
TRP002 Tropical Spastic Paraparesis 55 0.023
969
P DNT039 Dent's Disease 55 0.023
970
ADR008 Adrenal Adenoma 55 0.023
971
INT002 Intermittent Claudication 55 0.023
972
MGR001 Migraine Without Aura 55 0.023
973
PRM003 Premature Ejaculation 54 0.023
974
ATT002 Attention Deficit Hyperactivity Disorder 54 0.023
975
MTN003 Motion Sickness 54 0.023
976
PRT018 Portal Vein Thrombosis 54 0.023
977
CCN001 Cocaine Dependence 54 0.023
978
SCR002 Scurvy 54 0.023
979
CHL069 Cholesteatoma 54 0.023
980
c VNT002 Ventricular Septal Defect 54 0.023
981
c PSD015 Pseudohypoparathyroidism 54 0.023
982
MYL001 Myelitis 54 0.023
983
PLY012 Polyhydramnios 54 0.023
984
VND002 Van Der Woude Syndrome 54 0.023
985
WLL001 Williams-Beuren Syndrome 54 0.023
986
LYS001 Loeys-Dietz Syndrome 54 0.023
987
ASP001 Asperger Syndrome 53 0.023
988
P EHL049 Ehlers–danlos Syndrome Classical Type 53 0.023
989
P BTM001 Beta-Mannosidosis 53 0.023
990
c ADN012 Adenocarcinoma in Situ 53 0.023
991
EHR002 Ehrlichiosis 53 0.023
992
CNR002 Cone-Rod Dystrophy 53 0.023
993
P ESN001 Eosinophilic Esophagitis 53 0.023
994
P KLP003 Klippel-Feil Syndrome 53 0.023
995
TRM010 Traumatic Brain Injury 53 0.023
996
c ACT134 Acute Liver Failure 53 0.023
997
P SPN068 Spinocerebellar Ataxia Type 6 53 0.023
998
VNS010 Venous Thromboembolism 53 0.023
999
c HYD002 Hydronephrosis 53 0.023
1000
P ALP014 Alpha-Thalassemia/mental Retardation Syndrome 53 0.023
1001
SPR004 Supravalvular Aortic Stenosis 53 0.023
1002
SPT004 Septic Arthritis 53 0.023
1003
c BNG032 Benign Mesothelioma 53 0.023
1004
P PLM006 Pulmonary Alveolar Proteinosis 53 0.023
1005
c ATR001 Atrioventricular Septal Defect 52 0.023
1006
LPS007 Lupus Nephritis 52 0.023
1007
INT066 Interstitial Lung Disease 52 0.023
1008
LKD001 Leukodystrophy 52 0.023
1009
P FML075 Familial Isolated Hyperparathyroidism 52 0.023
1010
P ORT004 Orthostatic Intolerance 52 0.023
1011
STN007 Stenotrophomonas Maltophilia 52 0.023
1012
OST011 Osteomalacia 52 0.023
1013
c CNG025 Congenital Disorder of Glycosylation 52 0.023
1014
P TMT001 Timothy Syndrome 52 0.023
1015
c CNT048 Central Hypoventilation Syndrome 52 0.023
1016
GYR001 Gyrate Atrophy 52 0.023
1017
c MYL014 Myeloproliferative Disorder 52 0.023
1018
ANG002 Angiostrongyliasis 52 0.023
1019
c NNT009 Neonatal Diabetes Mellitus 52 0.023
1020
c SPN183 Spontaneous Pneumothorax 52 0.023
1021
P PRP023 Peripheral Neuropathy 52 0.023
1022
WLK001 Walker-Warburg Syndrome 52 0.023
1023
c HPT007 Hepatitis E 52 0.023
1024
P ZLL001 Zellweger Syndrome 52 0.023
1025
c TYR003 Tyrosinemia Type Ii 51 0.023
1026
DYS073 Dysphagia 51 0.023
1027
c ERL020 Early-Onset Schizophrenia 51 0.023
1028
PRS023 Pearson Syndrome 51 0.023
1029
FRZ001 Frozen Shoulder 51 0.023
1030
ACS001 Acoustic Neuroma 51 0.023
1031
ALC009 Alcoholic Liver Cirrhosis 51 0.023
1032
VHW001 Vohwinkel Syndrome 51 0.023
1033
P ALC004 Alcohol Abuse 51 0.023
1034
EPS023 Epstein-Barr Virus-Associated Gastric Carcinoma 51 0.023
1035
HTR003 Heterotaxy 51 0.023
1036
PTT008 Pituitary Carcinoma 51 0.023
1037
OBS006 Obstructive Lung Disease 51 0.023
1038
c ANT034 Anterior Uveitis 51 0.023
1039
MNN014 Mononeuritis 51 0.023
1040
P LYD001 Leydig Cell Tumor 50 0.023
1041
OLG006 Oligoastrocytoma 50 0.023
1042
MLK003 Melkersson-Rosenthal Syndrome 50 0.023
1043
P RPP002 Rippling Muscle Disease 50 0.023
1044
MMR004 Memory Impairment 50 0.023
1045
c SYN001 Syndactyly 50 0.023
1046
CCN002 Cocaine Abuse 50 0.023
1047
RGD001 Rigid Spine Syndrome 50 0.023
1048
NNT024 Neonatal Stroke 50 0.023
1049
ONC002 Onchocerciasis 50 0.023
1050
CHK001 Chikungunya 50 0.023
1051
CLS010 Cluster Headache 50 0.023
1052
P MJR001 Major Depressive Disorder 50 0.023
1053
PRT026 Parotitis 50 0.023
1054
XLN010 X-Linked Adrenal Hypoplasia Congenita 50 0.023
1055
CHN016 Cohen Syndrome 50 0.023
1056
MYP001 Myoepithelioma 50 0.023
1057
MYC013 Mycobacterium Abscessus 50 0.023
1058
SYN006 Synovial Sarcoma 49 0.023
1059
P HYP027 Hypobetalipoproteinemia 49 0.023
1060
PNM008 Pneumothorax 49 0.023
1061
c EPS003 Episodic Ataxia 49 0.023
1062
c PRM051 Primary Pigmented Nodular Adrenocortical Disease 49 0.023
1063
AGR002 Agoraphobia 49 0.023
1064
FBR047 Fibromyalgia 49 0.023
1065
DNG002 Dengue Hemorrhagic Fever 49 0.023
1066
SMN007 Seminoma 49 0.023
1067
c CNG018 Congenital Heart Block 49 0.023
1068
SPN119 Spondylarthropathy 49 0.023
1069
HDR006 Hidradenocarcinoma 49 0.023
1070
PLS016 Plasma Cell Leukemia 49 0.023
1071
P GRM009 Germ Cell Tumors 49 0.023
1072
LKM001 Leukemoid Reaction 49 0.023
1073
MST005 Mastitis 49 0.023
1074
CRN006 Coronary Aneurysm 48 0.023
1075
WGN003 Wagner Syndrome 48 0.023
1076
RTN018 Retinal Disease 48 0.023
1077
P PND001 Pain Disorder 48 0.023
1078
TRC040 Tracheoesophageal Fistula 48 0.023
1079
ACT087 Acth Deficiency 48 0.023
1080
BTH001 Bethlem Myopathy 48 0.023
1081
VCC001 Vaccinia 48 0.023
1082
PTT001 Pituitary Hypoplasia 48 0.023
1083
P WRD005 Waardenburg Syndrome Type I 48 0.023
1084
PRM028 Paramyotonia Congenita 48 0.023
1085
FCL022 Focal Dystonia 48 0.023
1086
MLN003 Melancholia 48 0.023
1087
SBS004 Substance Dependence 48 0.023
1088
PLM010 Pulmonary Edema 48 0.023
1089
P PNC001 Pancytopenia 48 0.023
1090
c NGH001 Night Blindness 48 0.023
1091
c CHR130 Charcot-Marie-Tooth Disease Type 1b 48 0.023
1092
STR001 Striatonigral Degeneration 48 0.023
1093
NSP002 Nasopharyngitis 48 0.023
1094
BCT015 Bacteremia 48 0.023
1095
THY022 Thymic Carcinoma 48 0.023
1096
BRN014 Bronchopneumonia 48 0.023
1097
NCT002 Nicotine Dependence 48 0.023
1098
P MXD016 Mixed Gonadal Dysgenesis 47 0.023
1099
GNT031 Genitopatellar Syndrome 47 0.023
1100
c PRN026 Porencephaly 47 0.023
1101
LYM008 Lymphangiosarcoma 47 0.023
1102
NRM004 Neuroma 47 0.023
1103
SPL004 Splenic Marginal Zone Lymphoma 47 0.023
1104
XNT003 Xanthomatosis 47 0.023
1105
P TRN034 Transverse Myelitis 47 0.023
1106
BRD004 Borderline Personality Disorder 47 0.023
1107
RNL077 Renal Fibrosis 46 0.023
1108
c ADL017 Adult T-Cell Leukemia 46 0.023
1109
P ATN005 Autonomic Dysfunction 46 0.023
1110
P TRC085 Trichorhinophalangeal Syndrome Type Ii 46 0.023
1111
RLP002 Relapsing-Remitting Multiple Sclerosis 46 0.023
1112
GLC037 Glucocorticoid Resistance 46 0.023
1113
BLT001 Bilateral Retinoblastoma 46 0.023
1114
LCT001 Lactic Acidosis 46 0.023
1115
MYK002 Myokymia 46 0.023
1116
P HRD092 Hereditary Diffuse Leukoencephalopathy with Spheroids 46 0.023
1117
c TRN032 Transient Neonatal Diabetes Mellitus 46 0.023
1118
c SHR030 Short Qt Syndrome 46 0.023
1119
c GNR002 Generalized Epilepsy with Febrile Seizures Plus 46 0.023
1120
BRN013 Bronchiolitis Obliterans Organizing Pneumonia 46 0.023
1121
LKP003 Leukoplakia 46 0.023
1122
HRN003 Heroin Dependence 45 0.023
1123
CRN025 Corneal Dystrophy 45 0.023
1124
P HMG003 Hemoglobin E Disease 45 0.023
1125
HMN016 Hemangioendothelioma 45 0.023
1126
P HYP111 Hyperprolinemia 45 0.023
1127
MXD032 Mixed Germ Cell Tumor 45 0.023
1128
SYD001 Sydenham's Chorea 45 0.023
1129
TRC012 Trichuriasis 45 0.023
1130
ARC002 Arachnoiditis 45 0.023
1131
DLS001 Delusional Disorder 45 0.023
1132
FCL014 Focal Epilepsy 45 0.023
1133
MGL013 Megalencephaly 45 0.023
1134
OST015 Osteochondrodysplasia 45 0.023
1135
c FTL001 Fetal Alcohol Syndrome 45 0.023
1136
INF034 Infective Endocarditis 45 0.023
1137
c BLP002 Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome 45 0.023
1138
P FNG005 Feingold Syndrome 45 0.023
1139
c HYP052 Hyperkalemic Periodic Paralysis 44 0.023
1140
ECT005 Ectropion 44 0.023
1141
HPY002 H. Pylori Infection 44 0.023
1142
ACT012 Acute Hemorrhagic Conjunctivitis 44 0.023
1143
SYS034 Systemic Onset Juvenile Idiopathic Arthritis 44 0.023
1144
c FML169 Familial Osteochondritis Dissecans 44 0.023
1145
SML032 Small Bowel Adenocarcinoma 44 0.023
1146
CLR030 Clear Cell Renal Cell Carcinoma 44 0.023
1147
CLL002 Collecting Duct Carcinoma 44 0.023
1148
LYM029 Lymphedema-Distichiasis Syndrome 44 0.023
1149
CRT063 Creatine Transporter Deficiency 43 0.023
1150
AMN006 Aminoaciduria 43 0.023
1151
QDR001 Quadriplegia 43 0.023
1152
ANP009 Anaplastic Oligodendroglioma 43 0.023
1153
P RTN016 Retinal Degeneration 43 0.023
1154
MDL002 Medulloepithelioma 43 0.023
1155
RDL002 Radioulnar Synostosis 43 0.023
1156
PRP009 Peripartum Cardiomyopathy 43 0.023
1157
c PTR004 Pterygium 43 0.023
1158
BLP005 Blepharitis 43 0.023
1159
CLP001 Calpainopathy 43 0.023
1160
CND006 Candida Glabrata 43 0.023
1161
CHN015 Chondrodysplasia 43 0.023
1162
OLG001 Oligospermia 43 0.023
1163
OPP004 Oppositional Defiant Disorder 43 0.023
1164
SCH024 Schinzel Giedion Syndrome 43 0.023
1165
LNG029 Lung Adenocarcinoma 42 0.023
1166
LSS007 Lissencephaly X-Linked 42 0.023
1167
DFC001 Defective Apolipoprotein B-100 42 0.023
1168
PCH002 Pachygyria 42 0.023
1169
FRY002 Fryns Syndrome 42 0.023
1170
P PRV002 Periventricular Nodular Heterotopia 42 0.023
1171
c ACH011 Achondrogenesis 42 0.023
1172
AMN003 Amnestic Disorder 41 0.023
1173
WHP002 Whiplash 41 0.023
1174
ORL013 Oral Lichen Planus 41 0.023
1175
RTN020 Retinal Vascular Disease 41 0.023
1176
c HMN021 Human T-Cell Leukemia Virus Type 1 41 0.023
1177
MCL007 Macular Dystrophy 41 0.023
1178
HYP459 Hyperferritinemia Cataract Syndrome 41 0.023
1179
STR037 Stress Cardiomyopathy 41 0.023
1180
EPG003 Epiglottitis 41 0.023
1181
c ACH008 Achondrogenesis Type Ia 41 0.023
1182
P SPL033 Split-Hand/foot Malformation 6 41 0.023
1183
ALB014 Alobar Holoprosencephaly 41 0.023
1184
YWS001 Yaws 41 0.023
1185
P DPH016 Diaphragmatic Hernia 3 40 0.023
1186
LCK001 Locked-in Syndrome 40 0.023
1187
c TRC004 Trichorhinophalangeal Syndrome Type I 40 0.023
1188
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 40 0.023
1189
c BNG026 Benign Neonatal Seizures 40 0.023
1190
ESP028 Esophageal Squamous Cell Carcinoma 40 0.023
1191
P ACH009 Achondrogenesis Type Ib 40 0.023
1192
EST005 Esotropia 40 0.023
1193
WHP001 Whipple Disease 40 0.023
1194
DBT061 Diabetic Nephropathy 40 0.023
1195
SHR044 Short Rib-Polydactyly Syndrome 40 0.023
1196
GST040 Gastric Adenocarcinoma 40 0.023
1197
HYP064 Hypogonadotropism 39 0.023
1198
CRB028 Cerebellar Medulloblastoma 39 0.023