Search results for set

2562 hits were found for set

# Family MCID Name MIFTS Score
1
c LKM061 Leukemia, Acute Myeloid 80 4.971
2
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 38 2.850
3
RNS001 Raine Syndrome 45 2.287
4
FLT006 Floating-Harbor Syndrome 44 2.287
5
DFN306 Deafness, Conductive, with Malformed External Ear 18 2.276
6
SVR009 Seaver Cassidy Syndrome 18 2.270
7
STT047 Setting-Sun Phenomenon, Familial Benign 8 2.262
8
DPL003 Diploid-Triploid Mosaicism 15 2.254
9
VLJ001 Viljoen Kallis Voges Syndrome 10 2.254
10
MMN001 Maumenee Syndrome 4 2.243
11
P DBT009 Diabetes Mellitus 64 0.124
12
ANX010 Anxiety 72 0.123
13
P BRS047 Breast Cancer 100 0.120
14
P LKM002 Leukemia 72 0.118
15
DPR016 Depression 72 0.117
16
PSY004 Psychotic Disorder 71 0.105
17
GLC008 Glucose Metabolism Disease 52 0.102
18
P HPT021 Hepatitis 76 0.101
19
ACQ007 Acquired Immunodeficiency Syndrome 63 0.096
20
P LNG032 Lung Cancer 98 0.095
21
P CLR023 Colorectal Cancer 97 0.094
22
P LYM118 Lymphoma 70 0.094
23
LNG099 Lung Disease 67 0.094
24
P SCH015 Schizophrenia 69 0.092
25
P MYC007 Myocardial Infarction 79 0.091
26
RSP006 Respiratory System Disease 63 0.091
27
P ART022 Arthritis 76 0.090
28
ISC004 Ischemia 65 0.090
29
AST005 Asthma 82 0.086
30
MNT002 Mental Depression 57 0.084
31
IMM136 Immune System Disease 56 0.083
32
VSC007 Vascular Disease 68 0.082
33
ATM095 Autoimmune Disease 64 0.082
34
TYP041 Type I 56 0.082
35
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91 0.080
36
P PRS040 Prostate Cancer 90 0.080
37
P PNM007 Pneumonia 69 0.080
38
THR024 Thrombosis 61 0.078
39
PRS047 Prostatitis 60 0.076
40
OCL033 Oculocerebral Syndrome with Hypopigmentation 45 0.076
41
P KDN018 Kidney Disease 68 0.075
42
AGN016 Aging 64 0.075
43
P CRV039 Cervicitis 49 0.075
44
P NRV007 Nervous System Disease 73 0.074
45
P HRT032 Heart Disease 74 0.073
46
SKN016 Skin Disease 66 0.073
47
SKN027 Skin Conditions 48 0.073
48
CRB009 Cerebritis 41 0.073
49
P ATS364 Autism 70 0.070
50
P ATT013 Attention Deficit-Hyperactivity Disorder 66 0.070
51
CNG034 Congestive Heart Failure 72 0.069
52
P DBT085 Diabetes Mellitus, Insulin-Dependent 65 0.069
53
VRL011 Viral Infectious Disease 63 0.069
54
c CNT035 Central Nervous System Disease 63 0.069
55
P ENC018 Encephalopathy 62 0.069
56
URN009 Urinary System Disease 55 0.069
57
P RHM011 Rheumatoid Arthritis 80 0.068
58
P LVR013 Liver Disease 75 0.068
59
P CRN018 Coronary Artery Anomaly 68 0.068
60
HYP056 Hypoglycemia 62 0.068
61
P SBS003 Substance Abuse 57 0.068
62
c HPT001 Hepatitis C 71 0.066
63
c SML038 Small Cell Cancer of the Lung 68 0.066
64
c CRN300 Coronary Heart Disease 1 64 0.066
65
MLR004 Malaria 83 0.065
66
PLM129 Pulmonary Disease, Chronic Obstructive 72 0.065
67
P ADN016 Adenocarcinoma 70 0.065
68
SRC014 Sarcoma 68 0.063
69
BRS051 Breast Disease 66 0.063
70
MDD011 Mood Disorder 63 0.063
71
HYP066 Hyperglycemia 63 0.063
72
ISC006 Ischemic Heart Disease 72 0.062
73
P ATR011 Atrial Fibrillation 68 0.062
74
P PNC044 Pancreatitis 64 0.062
75
P INF038 Influenza 76 0.060
76
c HPT073 Hepatitis C Virus 72 0.060
77
P MYL006 Myeloid Leukemia 68 0.060
78
c LKM071 Leukemia, Chronic Lymphocytic 75 0.059
79
P MNN013 Meningitis 70 0.059
80
DMN002 Dementia 68 0.059
81
ART140 Arteries, Anomalies of 65 0.059
82
P NRP001 Neuropathy 63 0.059
83
P DRR001 Diarrhea 56 0.059
84
P THY032 Thyroiditis 55 0.059
85
RTN023 Retinitis 50 0.059
86
P HPT023 Hepatocellular Carcinoma 94 0.057
87
P ALZ034 Alzheimer Disease 87 0.057
88
P INT068 Intestinal Disease 64 0.057
89
CNN005 Connective Tissue Disease 64 0.057
90
P ALC004 Alcohol Abuse 63 0.057
91
NRN002 Neuronitis 41 0.057
92
P INF032 Infertility 59 0.056
93
RNL114 Renal Cell Carcinoma, Nonpapillary 59 0.056
94
SPS003 Spastic Diplegia 54 0.056
95
BCK006 Back Pain 44 0.056
96
c LKM004 Leukemia, B-Cell, Chronic 36 0.056
97
P OST002 Osteoporosis 76 0.054
98
P CRV035 Cervical Cancer 69 0.054
99
P ART023 Arthropathy 67 0.054
100
P MJR001 Major Depressive Disorder 65 0.054
101
c HPT003 Hepatitis a 61 0.054
102
PHR003 Pharyngitis 59 0.054
103
BNF002 Bone Fracture 55 0.054
104
c LKM056 Leukemia, Chronic Lymphocytic 2 41 0.054
105
MYL069 Myeloma, Multiple 83 0.052
106
P OVR042 Ovarian Cancer 81 0.052
107
P EPL164 Epilepsy 69 0.052
108
SPN186 Spinal Cord Injury 68 0.052
109
c HPT016 Hepatitis B 67 0.052
110
P PRS038 Personality Disorder 64 0.052
111
MLN008 Melanoma 62 0.052
112
ETN001 Eating Disorder 61 0.052
113
JNT002 Joint Disorders 59 0.052
114
c ACT075 Acute Myocardial Infarction 58 0.052
115
GNR004 Generalized Anxiety Disorder 53 0.052
116
BRN071 Brain Injury 53 0.052
117
END072 Endotheliitis 45 0.052
118
P RSP003 Respiratory Failure 70 0.051
119
ALC007 Alcohol Dependence 65 0.051
120
c ATS007 Autism Spectrum Disorder 61 0.051
121
P ART021 Arteriosclerosis 60 0.051
122
P HYD006 Hydrocephalus 69 0.049
123
GST050 Gastrointestinal System Disease 64 0.049
124
MSL001 Measles 64 0.049
125
RHM027 Rheumatic Disease 62 0.049
126
P NTR004 Neutropenia 60 0.049
127
ANR040 Aneurysm 60 0.049
128
SQM006 Squamous Cell Carcinoma 59 0.049
129
P HYP069 Hyperparathyroidism 58 0.049
130
GT001 Gout 57 0.049
131
P CLL015 Collagen Disease 52 0.049
132
ENT004 Enthesopathy 46 0.049
133
P PLM037 Pulmonary Hypertension 75 0.047
134
P SLP006 Sleep Apnea 66 0.047
135
ADN018 Adenoma 63 0.047
136
HDC001 Headache 59 0.047
137
CLN019 Colonic Disease 54 0.047
138
OVR063 Overnutrition 53 0.047
139
MCL006 Macular Retinal Edema 51 0.047
140
EMN001 Emanuel Syndrome 36 0.047
141
P MLT020 Multiple Sclerosis 78 0.045
142
GST053 Gastric Cancer 77 0.045
143
c CHR089 Chronic Kidney Failure 72 0.045
144
BRC012 Brucellosis 70 0.045
145
DRM006 Dermatitis 66 0.045
146
GST045 Gastroenteritis 64 0.045
147
P THR014 Thrombocytopenia 64 0.045
148
P ESP024 Esophagitis 63 0.045
149
ANR007 Anorexia Nervosa 62 0.045
150
c ACT210 Acute Respiratory Distress Syndrome 61 0.045
151
PLC008 Placenta Disease 61 0.045
152
P BPL003 Bipolar Disorder 59 0.045
153
PST028 Post-Traumatic Stress Disorder 58 0.045
154
P MYP006 Myopia 56 0.045
155
END030 End Stage Renal Failure 56 0.045
156
CLL003 Cellulitis 53 0.045
157
LRN003 Learning Disability 50 0.045
158
PRS042 Prostate Disease 44 0.045
159
STR067 Stroke, Ischemic 82 0.043
160
PLM001 Pulmonary Tuberculosis 71 0.043
161
P LPS004 Lupus Erythematosus 68 0.043
162
APN008 Apnea, Obstructive Sleep 67 0.043
163
P LYM026 Lymphoblastic Leukemia 64 0.043
164
P TXP001 Toxoplasmosis 64 0.043
165
CLT003 Colitis 62 0.043
166
SLP005 Sleep Disorder 59 0.043
167
P ECL001 Eclampsia 57 0.043
168
PNM001 Pneumocystosis 55 0.043
169
SCK005 Sickle Cell Disease 54 0.043
170
P CHR345 Chronic Pain 51 0.043
171
PRL032 Perlman Syndrome 45 0.043
172
CRV045 Cervical Intraepithelial Neoplasia 43 0.043
173
RCT017 Rectal Disease 39 0.043
174
c MCL042 Macular Degeneration, Age-Related, 1 84 0.041
175
P PNC035 Pancreatic Cancer 79 0.041
176
LYM143 Lymphoma, Non-Hodgkin, Familial 72 0.041
177
P MCR115 Microvascular Complications of Diabetes 5 71 0.041
178
CRB037 Cerebral Palsy 71 0.041
179
HMN044 Human Immunodeficiency Virus Type 1 70 0.041
180
c LKM062 Leukemia, Acute Lymphoblastic 69 0.041
181
P PSR002 Psoriasis 65 0.041
182
CRD119 Cardiac Arrest 62 0.041
183
SCH014 Schistosomiasis 62 0.041
184
PRP019 Peripheral Nervous System Disease 60 0.041
185
c PRC016 Pre-Eclampsia 59 0.041
186
BRN038 Bronchial Disease 56 0.041
187
BRN106 Burns 56 0.041
188
P CMP008 Compartment Syndrome 47 0.041
189
HYD061 Hydrocephalus, Normal-Pressure 47 0.041
190
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43 0.041
191
BRS090 Breast Reconstruction 41 0.041
192
c PLM022 Pulmonary Valve Insufficiency 37 0.041
193
c TRC078 Trichohepatoenteric Syndrome 2 34 0.041
194
LYM133 Lymphoma, Hodgkin, Classic 71 0.038
195
P ADL010 Adult Respiratory Distress Syndrome 66 0.038
196
CST001 Costello Syndrome 66 0.038
197
P BCL006 B-Cell Lymphomas 65 0.038
198
P ENC004 Encephalitis 65 0.038
199
P HYP086 Hypothyroidism 64 0.038
200
CHL123 Chlamydia 64 0.038
201
PLM033 Pulmonary Embolism 62 0.038
202
WVR001 Weaver Syndrome 61 0.038
203
P HMP007 Hemophilia 60 0.038
204
MVM001 Movement Disease 60 0.038
205
HRP004 Herpes Zoster 60 0.038
206
P HMR003 Hemorrhagic Disease 60 0.038
207
RHM001 Rheumatic Fever 58 0.038
208
VGN023 Vaginitis 58 0.038
209
P TRM003 Tremor 54 0.038
210
P TRC086 Trichohepatoenteric Syndrome 1 54 0.038
211
OPT003 Opiate Dependence 54 0.038
212
P INF037 Inflammatory Bowel Disease 53 0.038
213
TTH006 Tooth Disease 53 0.038
214
NWB001 Newborn Respiratory Distress Syndrome 52 0.038
215
P SYP003 Syphilis 51 0.038
216
P BLD051 Blood Coagulation Disease 50 0.038
217
CRV002 Cervix Uteri Carcinoma in Situ 47 0.038
218
CHR222 Chromosome 1p36 Deletion Syndrome 43 0.038
219
BDY001 Body Dysmorphic Disorder 42 0.038
220
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 0.038
221
RHM035 Rheumatic Fever-Related Antigen 39 0.038
222
c RTS003 Ritscher-Schinzel Syndrome 1 36 0.038
223
RSP007 Respiratory Distress Syndrome, Infant 34 0.038
224
CHR390 Chromosome 14q11-Q22 Deletion Syndrome 33 0.038
225
P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 33 0.038
226
CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 23 0.038
227
CYS001 Cystic Fibrosis 84 0.036
228
P NNN008 Noonan Syndrome 1 77 0.036
229
PFF001 Pfeiffer Syndrome 73 0.036
230
P HRP006 Herpes Simplex 69 0.036
231
P TRN020 Turner Syndrome 68 0.036
232
CRB039 Cerebrovascular Disease 67 0.036
233
c THR092 Thrombophilia Due to Thrombin Defect 67 0.036
234
ANG054 Angina Pectoris 66 0.036
235
PRT036 Peritonitis 66 0.036
236
NRF007 Neurofibroma 65 0.036
237
VSC011 Vasculitis 65 0.036
238
P CNJ013 Conjunctivitis 63 0.036
239
P SNS014 Sinusitis 62 0.036
240
P RHN004 Rhinitis 61 0.036
241
P CTR002 Cataract 60 0.036
242
ALL006 Allergic Asthma 59 0.036
243
P END033 Endocarditis 58 0.036
244
P SZR006 Seizure Disorder 56 0.036
245
P PNC025 Panic Disorder 55 0.036
246
SPN019 Spondylolisthesis 55 0.036
247
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 55 0.036
248
TRM010 Traumatic Brain Injury 55 0.036
249
OCL006 Ocular Hypertension 53 0.036
250
LMB062 Limb Ischemia 51 0.036
251
ECT026 Ectopic Pregnancy 51 0.036
252
P OPN001 Open-Angle Glaucoma 51 0.036
253
SCB001 Scabies 50 0.036
254
CTY001 Cat Eye Syndrome 49 0.036
255
P HYD033 Hydrolethalus Syndrome 1 45 0.036
256
DCB001 Decubitus Ulcer 45 0.036
257
PHB001 Phobic Disorder 42 0.036
258
WHP002 Whiplash 39 0.036
259
P OTF004 Otofaciocervical Syndrome 1 30 0.036
260
ACT094 Acute Articular Rheumatism 26 0.036
261
NRL016 Neural Tube Defects 78 0.033
262
P PRK057 Parkinson Disease, Late-Onset 76 0.033
263
KPS004 Kaposi Sarcoma 73 0.033
264
BRN028 Brain Cancer 72 0.033
265
P GRF003 Graft-Versus-Host Disease 71 0.033
266
P CLC063 Celiac Disease 1 71 0.033
267
P LYN001 Lynch Syndrome 71 0.033
268
LSH001 Leishmaniasis 70 0.033
269
P BLD134 Bladder Cancer 69 0.033
270
P HLP001 Holoprosencephaly 66 0.033
271
PSR001 Psoriatic Arthritis 65 0.033
272
GST092 Gastroesophageal Reflux 64 0.033
273
P LYM025 Lymphedema 63 0.033
274
THR100 Thrombocytopenic Purpura, Autoimmune 62 0.033
275
c PNS012 Paine Syndrome 62 0.033
276
P EXN002 Exanthem 61 0.033
277
P PRT013 Portal Hypertension 59 0.033
278
c VRL010 Viral Hepatitis 59 0.033
279
NRN004 Neuroendocrine Tumor 58 0.033
280
P KDN017 Kidney Cancer 58 0.033
281
P PLY019 Polyneuropathy 57 0.033
282
RSC001 Rosacea 57 0.033
283
IRN002 Iron Metabolism Disease 55 0.033
284
THR004 Thrombocytosis 54 0.033
285
P GLM045 Glioma 54 0.033
286
P VNS003 Venous Insufficiency 54 0.033
287
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.033
288
RDC002 Radiculopathy 53 0.033
289
PST021 Postpartum Depression 53 0.033
290
INT075 Intracranial Hypertension 52 0.033
291
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52 0.033
292
SRT004 Serotonin Syndrome 50 0.033
293
SCN001 Secondary Hyperparathyroidism of Renal Origin 50 0.033
294
P BRN120 Bronchus Cancer 49 0.033
295
DBT006 Diabetic Macular Edema 48 0.033
296
ASP007 Aspiration Pneumonia 47 0.033
297
HDN002 Head Injury 47 0.033
298
MLT006 Multidrug-Resistant Tuberculosis 47 0.033
299
P MRD002 Marden-Walker Syndrome 46 0.033
300
P MWT001 Mowat-Wilson Syndrome 46 0.033
301
NRL004 Neuroleptic Malignant Syndrome 44 0.033
302
BNT003 Bent Bone Dysplasia Syndrome 40 0.033
303
LTR009 Lateral Meningocele Syndrome 34 0.033
304
PRG123 Progeroid Syndrome, Neonatal 30 0.033
305
CSN001 Cousin Syndrome 28 0.033
306
ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 26 0.033
307
c MNT158 Mental Retardation, Autosomal Dominant 22 25 0.033
308
BRK011 Brooks-Wisniewski-Brown Syndrome 25 0.033
309
c OTF003 Otofaciocervical Syndrome 2 23 0.033
310
MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 22 0.033
311
CHR612 Chromosome 15q14 Deletion Syndrome 19 0.033
312
OST012 Osteoarthritis 82 0.030
313
CRH001 Crohn's Disease 78 0.030
314
NRF026 Neurofibromatosis, Type Iv, of Riccardi 73 0.030
315
P ALG028 Alagille Syndrome 1 73 0.030
316
P NRB001 Neuroblastoma 72 0.030
317
MYC006 Mycosis Fungoides 72 0.030
318
MLD001 Melioidosis 72 0.030
319
CNN003 Conn's Syndrome 71 0.030
320
ART016 Aortic Aneurysm 69 0.030
321
DWN001 Down Syndrome 69 0.030
322
SMT004 Smith-Lemli-Opitz Syndrome 68 0.030
323
PRT037 Pertussis 68 0.030
324
ALL003 Allergic Rhinitis 67 0.030
325
P JBR020 Joubert Syndrome 1 67 0.030
326
c NRF024 Neurofibromatosis, Type I 66 0.030
327
TTN003 Tetanus 64 0.030
328
OST017 Osteomyelitis 63 0.030
329
BRR014 Barrett Esophagus 63 0.030
330
MTH009 Mouth Disease 63 0.030
331
P MMP001 Mumps 61 0.030
332
PRP030 Purpura 61 0.030
333
DFC004 Deficiency Anemia 61 0.030
334
TBC004 Tobacco Addiction 60 0.030
335
MCS002 Mucositis 60 0.030
336
ERY003 Erythema Multiforme 60 0.030
337
P GST044 Gastritis 60 0.030
338
P CND004 Candidiasis 60 0.030
339
STT001 Status Epilepticus 60 0.030
340
c WLM018 Wilms Tumor 5 60 0.030
341
DBT062 Diabetic Foot Ulcers 59 0.030
342
c PRM005 Primary Hyperparathyroidism 59 0.030
343
P ANT006 Antiphospholipid Syndrome 59 0.030
344
RTN017 Retinal Detachment 58 0.030
345
VSC003 Visceral Leishmaniasis 58 0.030
346
SFT003 Soft Tissue Sarcoma 58 0.030
347
BLM002 Bulimia Nervosa 58 0.030
348
c BCT007 Bacterial Meningitis 58 0.030
349
c PRG042 Progressive Familial Heart Block, Type Ia 58 0.030
350
CHL067 Cholecystitis 57 0.030
351
HMT018 Hematopoietic Stem Cell Transplantation 57 0.030
352
c GLC092 Glaucoma, Primary Open Angle 57 0.030
353
CRT049 Critical Limb Ischemia 57 0.030
354
ANG020 Angiosarcoma 56 0.030
355
PNM008 Pneumothorax 56 0.030
356
PRP036 Peripheral T-Cell Lymphoma 56 0.030
357
RTN018 Retinal Disease 56 0.030
358
SMT006 Somatoform Disorder 55 0.030
359
PRC013 Pericarditis 55 0.030
360
IRN001 Iron Deficiency Anemia 55 0.030
361
CHL061 Childhood Leukemia 55 0.030
362
BCT002 Bacterial Vaginosis 54 0.030
363
GST009 Gastroschisis 54 0.030
364
LYM024 Lymphatic System Disease 54 0.030
365
SCH012 Schizoaffective Disorder 54 0.030
366
TBR011 Tuberculous Meningitis 53 0.030
367
DBT084 Diabetes Mellitus, Ketosis-Prone 52 0.030
368
P RTN022 Retinal Vein Occlusion 52 0.030
369
CLC001 Calciphylaxis 52 0.030
370
P MRG008 Meier-Gorlin Syndrome 1 52 0.030
371
P CTN003 Cutaneous Lupus Erythematosus 52 0.030
372
P SHR029 Short Syndrome 51 0.030
373
MLT163 Multiple Pterygium Syndrome, Escobar Variant 51 0.030
374
TRC008 Trachoma 51 0.030
375
PRT038 Protein-Energy Malnutrition 51 0.030
376
P END047 Endophthalmitis 50 0.030
377
PRT018 Portal Vein Thrombosis 50 0.030
378
c ATM024 Autoimmune Pancreatitis 50 0.030
379
MCL027 Macular Dystrophy, Dominant Cystoid 50 0.030
380
INT051 Intussusception 49 0.030
381
BRD004 Borderline Personality Disorder 49 0.030
382
ANX004 Anoxia 49 0.030
383
MTB004 Metabolic Acidosis 48 0.030
384
SCL003 Social Phobia 48 0.030
385
HPR003 Heparin-Induced Thrombocytopenia 48 0.030
386
CRD002 Cri-Du-Chat Syndrome 47 0.030
387
c MCR256 Microphthalmia, Syndromic 9 46 0.030
388
CRD001 Cardiac Tamponade 46 0.030
389
BSL008 Basal Ganglia Disease 46 0.030
390
OPD006 Opioid Addiction 45 0.030
391
BRN003 Branchiooculofacial Syndrome 45 0.030
392
RST011 Restrictive Dermopathy, Lethal 44 0.030
393
ASP008 Aspiration Pneumonitis 44 0.030
394
CRT015 Carotid Artery Occlusion 44 0.030
395
DBW001 Dubowitz Syndrome 43 0.030
396
NRF008 Neurofibromatosis-Noonan Syndrome 43 0.030
397
GRN017 Granulocytopenia 43 0.030
398
OPD001 Opioid Abuse 42 0.030
399
NRT001 Neurotic Disorder 41 0.030
400
c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 41 0.030
401
c INH004 Inherited Blood Coagulation Disease 41 0.030
402
c WLM011 Wilms Tumor 6 38 0.030
403
c OTP007 Otopalatodigital Syndrome, Type Ii 38 0.030
404
FNT005 Fontaine Progeroid Syndrome 37 0.030
405
ADN022 Adenylosuccinase Deficiency 37 0.030
406
DSM002 Desmosterolosis 36 0.030
407
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 35 0.030
408
CTL005 Catel-Manzke Syndrome 35 0.030
409
NNT039 Neonatal Marfan Syndrome 34 0.030
410
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 33 0.030
411
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 31 0.030
412
URN022 Urinary Tract Infections, Recurrent 29 0.030
413
ALZ030 Alazami Syndrome 27 0.030
414
CHR266 Chromosome 8p23.1 Deletion 26 0.030
415
BRN123 Branchial Arch Syndrome, X-Linked 23 0.030
416
c ACR105 Acrofrontofacionasal Dysostosis 2 22 0.030
417
MCR306 Microcephaly-Deafness Syndrome 19 0.030
418
CGL001 Coagulation Protein Disease 16 0.030
419
c SYS001 Systemic Lupus Erythematosus 86 0.027
420
P MDL005 Medulloblastoma 75 0.027
421
ULC004 Ulcerative Colitis 72 0.027
422
c SPN225 Spondyloarthropathy 1 71 0.027
423
PRP027 Peripheral Vascular Disease 70 0.027
424
MYL009 Myelodysplastic Syndrome 70 0.027
425
P ESS003 Essential Thrombocythemia 70 0.027
426
SKN019 Skin Melanoma 69 0.027
427
P FRG001 Fragile X Syndrome 69 0.027
428
c HMP029 Hemophilia a 68 0.027
429
c PLM164 Pulmonary Hypertension, Primary, 1 66 0.027
430
OBS002 Obsessive-Compulsive Disorder 66 0.027
431
THY028 Thyroid Cancer 66 0.027
432
TYP007 Typhoid Fever 66 0.027
433
P TMP003 Temporal Arteritis 66 0.027
434
P PRD008 Periodontitis 66 0.027
435
P ASP006 Aspergillosis 65 0.027
436
P CRD224 Cardiofaciocutaneous Syndrome 1 64 0.027
437
c ART138 Aortic Aneurysm, Familial Abdominal, 1 64 0.027
438
LPT001 Leptospirosis 64 0.027
439
ART005 Arteriovenous Malformation 63 0.027
440
WLL001 Williams-Beuren Syndrome 63 0.027
441
STH001 Saethre-Chotzen Syndrome 63 0.027
442
P PLY011 Polycystic Ovary Syndrome 63 0.027
443
BND020 Bone Disease 62 0.027
444
P PRP029 Porphyria 62 0.027
445
P RBL001 Rubella 62 0.027
446
LWC002 Lowe Oculocerebrorenal Syndrome 61 0.027
447
TRN018 Transitional Cell Carcinoma 61 0.027
448
P GRV001 Graves' Disease 61 0.027
449
P GLM007 Glomerulonephritis 61 0.027
450
HYP266 Hypoxia 61 0.027
451
MRB003 Morbid Obesity 60 0.027
452
MLG077 Malignant Peripheral Nerve Sheath Tumor 60 0.027
453
P MCK013 Meckel Syndrome, Type 1 59 0.027
454
DNH001 Donohue Syndrome 59 0.027
455
P SML001 Small Cell Carcinoma 58 0.027
456
CMP005 Campomelic Dysplasia 57 0.027
457
DMY004 Demyelinating Disease 57 0.027
458
FLR002 Filariasis 57 0.027
459
CMP010 Complex Regional Pain Syndrome 57 0.027
460
c ESS001 Essential Tremor 57 0.027
461
OPT006 Optic Nerve Disease 57 0.027
462
c VSC019 Vesicoureteral Reflux 1 57 0.027
463
TRG002 Trigeminal Neuralgia 57 0.027
464
c CNG021 Congenital Toxoplasmosis 57 0.027
465
FCL009 Focal Dermal Hypoplasia 57 0.027
466
SLC006 Silicosis 56 0.027
467
CNS004 Constipation 56 0.027
468
P HYP076 Hyperthyroidism 56 0.027
469
LYM027 Lymphopenia 55 0.027
470
HMP005 Hemiplegia 55 0.027
471
IMP005 Impotence 55 0.027
472
PLS006 Plasmodium Vivax Malaria 55 0.027
473
PRV006 Pervasive Developmental Disorder 55 0.027
474
BLD044 Bladder Disease 55 0.027
475
PLV003 Pelvic Inflammatory Disease 55 0.027
476
SPN051 Spondylitis 55 0.027
477
HST011 Histoplasmosis 54 0.027
478
MVL001 Mevalonic Aciduria 54 0.027
479
INF034 Infective Endocarditis 54 0.027
480
CLF001 Cleft Lip 54 0.027
481
P PNM006 Pneumoconiosis 54 0.027
482
P PMP001 Pemphigus 54 0.027
483
P DBT005 Diabetes Insipidus 54 0.027
484
BRJ001 Borjeson-Forssman-Lehmann Syndrome 54 0.027
485
CLF004 Cleft Lip/palate 53 0.027
486
c HPT007 Hepatitis E 53 0.027
487
PRP080 Peripheral Artery Disease 53 0.027
488
NRG002 Neurogenic Bladder 53 0.027
489
DGN001 Degenerative Disc Disease 53 0.027
490
CRY005 Cryptococcosis 53 0.027
491
RST001 Restless Legs Syndrome 52 0.027
492
P TRT010 Teratoma 52 0.027
493
c TRC091 Trichorhinophalangeal Syndrome, Type Ii 52 0.027
494
SCH068 Schwartz-Jampel Syndrome, Type 1 52 0.027
495
ATR057 Atrioventricular Block 52 0.027
496
P CHL066 Cholangitis 52 0.027
497
CHR005 Chorioamnionitis 51 0.027
498
P PTT014 Pitt-Hopkins Syndrome 51 0.027
499
FCT001 Factor Viii Deficiency 51 0.027
500
SPN041 Spinal Cord Disease 51 0.027
501
THY030 Thyroid Gland Disease 51 0.027
502
PLS009 Plasma Cell Neoplasm 51 0.027
503
DNT012 Dental Caries 51 0.027
504
CYT005 Cytomegalovirus Retinitis 50 0.027
505
P LCT001 Lactic Acidosis 50 0.027
506
PTS001 Patau Syndrome 50 0.027
507
SBS004 Substance Dependence 50 0.027
508
VCC001 Vaccinia 50 0.027
509
EPD001 Epidermodysplasia Verruciformis 50 0.027
510
JCB001 Jacobsen Syndrome 50 0.027
511
c ART119 Arthrogryposis, Distal, Type 5 49 0.027
512
DFF036 Differentiated Thyroid Carcinoma 49 0.027
513
YNS002 Yunis-Varon Syndrome 48 0.027
514
STR081 Stormorken Syndrome 48 0.027
515
CST005 Castleman Disease 48 0.027
516
AMB002 Amblyopia 47 0.027
517
FSC004 Fasciitis 47 0.027
518
PST049 Postaxial Acrofacial Dysostosis 46 0.027
519
CHR594 Chromosome 3q29 Deletion Syndrome 46 0.027
520
ACR058 Acrofacial Dysostosis 1, Nager Type 46 0.027
521
DYS073 Dysphagia 46 0.027
522
FRY006 Fryns Microphthalmia Syndrome 45 0.027
523
PRS115 Prosthetic Joint Infection 45 0.027
524
INT071 Intestinal Perforation 45 0.027
525
c ART061 Arthrogryposis, Distal, Type 2a 45 0.027
526
MCR165 Microphthalmia with Limb Anomalies 45 0.027
527
DVR002 Diverticulitis 44 0.027
528
c RBN009 Robinow Syndrome, Autosomal Recessive 44 0.027
529
NRF003 Neurofibrosarcoma 44 0.027
530
WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44 0.027
531
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 44 0.027
532
SLR001 Sialuria 43 0.027
533
BHR002 Bohring-Opitz Syndrome 43 0.027
534
HRT030 Hartsfield Syndrome 43 0.027
535
ASP004 Asphyxia Neonatorum 43 0.027
536
CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 43 0.027
537
TRP014 Triploidy 42 0.027
538
SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 42 0.027
539
PNG002 Pain Agnosia 42 0.027
540
FRY002 Fryns Syndrome 42 0.027
541
ALX002 Alexithymia 42 0.027
542
c LRS002 Larsen-Like Syndrome 42 0.027
543
MYH012 Myhre Syndrome 41 0.027
544
SPS057 Spasticity 41 0.027
545
OST097 Osteoporotic Fracture 41 0.027
546
CHR386 Chromosome 6pter-P24 Deletion Syndrome 40 0.027
547
MDS022 Mediastinitis 40 0.027
548
TRN044 Transposition of the Great Arteries 40 0.027
549
c MCR263 Microphthalmia, Syndromic 1 40 0.027
550
c ACT004 Acute Diarrhea 40 0.027
551
SPR012 Separation Anxiety Disorder 40 0.027
552
P CRB059 Cerebellar Degeneration 39 0.027
553
CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 38 0.027
554
DPH019 Diaphanospondylodysostosis 38 0.027
555
FLR001 Filarial Elephantiasis 37 0.027
556
CHR667 Chromosome 3pter-P25 Deletion Syndrome 37 0.027
557
CHR518 Chromosome 9p Deletion Syndrome 36 0.027
558
ADJ001 Adjustment Disorder 36 0.027
559
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 36 0.027
560
AMY086 Amyotrophy, Hereditary Neuralgic 35 0.027
561
CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 35 0.027
562
WRN004 Wrinkly Skin Syndrome 35 0.027
563
VGN019 Vaginal Discharge 34 0.027
564
FMR018 Femoral-Facial Syndrome 34 0.027
565
c ORF035 Orofaciodigital Syndrome Iv 34 0.027
566
CHR543 Chromosome 2q37 Deletion Syndrome 34 0.027
567
SPN331 Spondyloocular Syndrome 33 0.027
568
PTT045 Pituitary Hormone Deficiency, Combined, 1 33 0.027
569
c ATS392 Autosomal Recessive Cutis Laxa Type Iii 33 0.027
570
ALR002 Al-Raqad Syndrome 31 0.027
571
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 31 0.027
572
GCH018 Gaucher Disease, Perinatal Lethal 31 0.027
573
TMT003 Temtamy Syndrome 31 0.027
574
PSD046 Pseudotrisomy 13 Syndrome 30 0.027
575
IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 30 0.027
576
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 29 0.027
577
NBL001 Nablus Mask-Like Facial Syndrome 29 0.027
578
GMZ002 Gomez-Lopez-Hernandez Syndrome 29 0.027
579
GLS018 Glass Syndrome 29 0.027
580
UNV002 Univentricular Heart 29 0.027
581
ACR102 Acrorenal-Mandibular Syndrome 29 0.027
582
ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 28 0.027
583
ISD002 Isodicentric Chromosome 15 Syndrome 27 0.027
584
c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 27 0.027
585
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 27 0.027
586
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.027
587
RNL039 Renal Dysplasia-Limb Defects Syndrome 27 0.027
588
c CRB100 Cerebrooculofacioskeletal Syndrome 4 26 0.027
589
KPR002 Kapur-Toriello Syndrome 26 0.027
590
P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 26 0.027
591
PNC104 Pancreatic and Cerebellar Agenesis 26 0.027
592
ZTT001 Zttk Syndrome 25 0.027
593
NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 25 0.027
594
CLF044 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 25 0.027
595
MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 24 0.027
596
MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 24 0.027
597
CRT028 Cor Triatriatum 24 0.027
598
SCR025 Scarf Syndrome 24 0.027
599
CHR379 Chromosome 15q26-Qter Deletion Syndrome 24 0.027
600
CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 24 0.027
601
c JBR024 Joubert Syndrome 14 24 0.027
602
c MNT246 Mental Retardation, Autosomal Dominant 38 24 0.027
603
SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 23 0.027
604
CHR487 Chromosome 8q21.11 Deletion Syndrome 23 0.027
605
TRG019 Trigonocephaly with Short Stature and Developmental Delay 23 0.027
606
DSN002 Desanto-Shinawi Syndrome 23 0.027
607
GNT043 Genitopalatocardiac Syndrome 22 0.027
608
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 22 0.027
609
CHR502 Chromosome 17q12 Duplication Syndrome 22 0.027
610
HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 21 0.027
611
KNS006 Kniest-Like Dysplasia, Lethal 20 0.027
612
GMS002 Gms Syndrome 20 0.027
613
PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 20 0.027
614
SBR011 Subaortic Stenosis--Short Stature Syndrome 20 0.027
615
SMS004 Simosa Craniofacial Syndrome 20 0.027
616
HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 19 0.027
617
ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 19 0.027
618
SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 18 0.027
619
CRB164 Cerebrooculonasal Syndrome 18 0.027
620
CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 17 0.027
621
PYR003 Pyromania 17 0.027
622
TTH023 Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum 17 0.027
623
PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 17 0.027
624
DST055 Distal 22q11.2 Microduplication Syndrome 17 0.027
625
6P2001 6p22 Microdeletion Syndrome 15 0.027
626
10Q002 10q22.3q23.3 Microduplication Syndrome 15 0.027
627
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.023
628
INS024 Insulin-Like Growth Factor I 82 0.023
629
SQM013 Squamous Cell Carcinoma, Head and Neck 76 0.023
630
GST019 Gastrointestinal Stromal Tumor 73 0.023
631
SCK003 Sickle Cell Anemia 72 0.023
632
P RTN024 Retinoblastoma 70 0.023
633
CMM004 Common Variable Immunodeficiency 70 0.023
634
P MYL005 Myelofibrosis 70 0.023
635
P PLM036 Pulmonary Fibrosis 69 0.023
636
LVR012 Liver Cirrhosis 68 0.023
637
P TBR001 Tuberous Sclerosis 68 0.023
638
P MYP004 Myopathy 68 0.023
639
P DRM053 Dermatitis, Atopic 67 0.023
640
P CRN037 Craniosynostosis 67 0.023
641
P HMP002 Hemophagocytic Lymphohistiocytosis 67 0.023
642
P PRP003 Porphyria Cutanea Tarda 66 0.023
643
OTT002 Otitis Media 66 0.023
644
P LNG028 Long Qt Syndrome 65 0.023
645
INS001 Insulinoma 65 0.023
646
P CHR071 Charcot-Marie-Tooth Disease 65 0.023
647
c BSL007 Basal Cell Carcinoma 64 0.023
648
P DYS154 Dystonia 64 0.023
649
PRT010 Parathyroid Carcinoma 64 0.023
650
PRD007 Periodontal Disease 64 0.023
651
P END044 Endometriosis 64 0.023
652
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 64 0.023
653
c SCL052 Scleroderma, Familial Progressive 64 0.023
654
VRC005 Varicose Veins 64 0.023
655
BLL006 Bullous Pemphigoid 63 0.023
656
P CCK001 Cockayne Syndrome 63 0.023
657
CLF027 Cleft Palate, Isolated 63 0.023
658
CHL065 Cholangiocarcinoma 63 0.023
659
P THR005 Thrombotic Thrombocytopenic Purpura 63 0.023
660
c DPH024 Diaphragmatic Hernia, Congenital 63 0.023
661
c OVR114 Ovarian Cancer 1 62 0.023
662
RHB001 Rhabdoid Cancer 62 0.023
663
P HML002 Hemolytic Anemia 62 0.023
664
c ATM011 Autoimmune Hepatitis 62 0.023
665
HJD001 Hajdu-Cheney Syndrome 62 0.023
666
MTR014 Motor Neuron Disease 61 0.023
667
NRM005 Neuromuscular Disease 60 0.023
668
BRN002 Bronchiolitis 59 0.023
669
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 59 0.023
670
P UTR058 Uterine Anomalies 59 0.023
671
P LTR001 Lateral Sclerosis 58 0.023
672
P PLM034 Pulmonary Emphysema 58 0.023
673
P HYP083 Hypopituitarism 58 0.023
674
P ALP008 Alopecia 58 0.023
675
P HLL001 Hallermann-Streiff Syndrome 58 0.023
676
NRT004 Neuritis 57 0.023
677
P HMR012 Hemorrhagic Fever 57 0.023
678
P RNL100 Renal Hypodysplasia/aplasia 1 57 0.023
679
PNC034 Pancreas Disease 57 0.023
680
WST005 West Nile Virus 57 0.023
681
SML019 Smallpox 57 0.023
682
ANN002 Anencephaly 56 0.023
683
PLM010 Pulmonary Edema 56 0.023
684
P SLV001 Silver-Russell Syndrome 56 0.023
685
EPD016 Epidermolysis Bullosa 56 0.023
686
P LRY019 Laryngitis 56 0.023
687
DFF005 Diffuse Large B-Cell Lymphoma 56 0.023
688
CHL014 Cholera 56 0.023
689
CYT008 Cytomegalovirus Infection 56 0.023
690
STR020 Strabismus 56 0.023
691
EWN002 Ewing's Family of Tumors 56 0.023
692
P PYL005 Pyelonephritis 56 0.023
693
NPH009 Nephrolithiasis 55 0.023
694
SPT005 Spotted Fever 55 0.023
695
P CTN015 Cutaneous T Cell Lymphoma 55 0.023
696
P MLT074 Multiple Endocrine Neoplasia 55 0.023
697
P PMP005 Pemphigus Vulgaris 55 0.023
698
LYM019 Lymphosarcoma 55 0.023
699
P RTN016 Retinal Degeneration 54 0.023
700
c MLG074 Malignant Mesenchymoma 54 0.023
701
LST001 Listeriosis 54 0.023
702
TCK001 Tick-Borne Encephalitis 54 0.023
703
TCD001 Tic Disorder 54 0.023
704
P CRY007 Cryoglobulinemia, Familial Mixed 54 0.023
705
DYS014 Dyspepsia 54 0.023
706
c ACT071 Acute Kidney Failure 54 0.023
707
ERY017 Erythema Elevatum Diutinum 54 0.023
708
CRV040 Cervix Carcinoma 53 0.023
709
c SVR005 Severe Pre-Eclampsia 53 0.023
710
PTN001 Patent Foramen Ovale 53 0.023
711
P PRC012 Pericardial Effusion 53 0.023
712
SMT008 Smith-Magenis Syndrome 53 0.023
713
KRT009 Keratosis 53 0.023
714
HMG005 Hemoglobinopathy 53 0.023
715
PRT082 Preterm Premature Rupture of the Membranes 52 0.023
716
P MSC033 Muscle Disorders 52 0.023
717
PHL006 Phelan-Mcdermid Syndrome 52 0.023
718
QDR001 Quadriplegia 52 0.023
719
CRT013 Carotid Stenosis 52 0.023
720
c ACT134 Acute Liver Failure 52 0.023
721
SPN020 Spondylosis 51 0.023
722
MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 51 0.023
723
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 50 0.023
724
STS002 Situs Inversus 50 0.023
725
PLR001 Pleural Tuberculosis 50 0.023
726
PTT004 Pituitary Apoplexy 50 0.023
727
c RBN021 Rubinstein-Taybi Syndrome 1 49 0.023
728
DBL002 Double Outlet Right Ventricle 49 0.023
729
c NNN010 Noonan Syndrome 3 49 0.023
730
CCN002 Cocaine Abuse 49 0.023
731
CLR030 Clear Cell Renal Cell Carcinoma 49 0.023
732
CHC001 Chickenpox 49 0.023
733
CRY004 Cryoglobulinemia 49 0.023
734
P ATR005 Atrophic Gastritis 48 0.023
735
FRZ001 Frozen Shoulder 48 0.023
736
PRS129 Prostatic Hyperplasia, Benign 48 0.023
737
c JVN003 Juvenile Xanthogranuloma 48 0.023
738
BCT004 Bacteriuria 47 0.023
739
ART031 Aortic Coarctation 47 0.023
740
P MTH007 Methemoglobinemia 47 0.023
741
MYC005 Myocardial Stunning 47 0.023
742
GLC098 Glaucoma-Related Pigment Dispersion Syndrome 47 0.023
743
OST022 Osteopathia Striata with Cranial Sclerosis 47 0.023
744
SYN036 Syncope 47 0.023
745
c CHR431 Chronic Venous Insufficiency 47 0.023
746
RGH001 Right Bundle Branch Block 46 0.023
747
NRR001 Neuroretinitis 46 0.023
748
P DMY001 Demyelinating Polyneuropathy 46 0.023
749
SMN007 Seminoma 46 0.023
750
NSP002 Nasopharyngitis 46 0.023
751
EXT033 Extrapulmonary Tuberculosis 46 0.023
752
SYS003 Systolic Heart Failure 46 0.023
753
CLB002 Clubfoot 46 0.023
754
P ART084 Arteriovenous Fistula 45 0.023
755
CRD137 Cardiogenic Shock 45 0.023
756
PDT001 Pediatric Lymphoma 45 0.023
757
HMF008 Hemifacial Atrophy, Progressive 45 0.023
758
STT002 Status Asthmaticus 45 0.023
759
ANC002 Anca-Associated Vasculitis 45 0.023
760
PLC001 Placenta Accreta 45 0.023
761
c CHR579 Chiari Malformation Type Ii 45 0.023
762
RFR003 Refractive Error 44 0.023
763
URT001 Urethritis 43 0.023
764
c CHR020 Chronic Interstitial Cystitis 43 0.023
765
DNN002 Donnai-Barrow Syndrome 43 0.023
766
MTS001 Mutism 42 0.023
767
HYP016 Hypochondriasis 42 0.023
768
c WRB002 Warburg Micro Syndrome 1 42 0.023
769
RCK002 Rocky Mountain Spotted Fever 41 0.023
770
PHY002 Physical Disorder 41 0.023
771
RMN001 Rumination Disorder 41 0.023
772
c CRS016 Crisponi/cold-Induced Sweating Syndrome 1 41 0.023
773
c PRG043 Progressive Familial Heart Block, Type Ib 41 0.023
774
HMP001 Hemopericardium 41 0.023
775
CDQ001 Cauda Equina Syndrome 40 0.023
776
HRN003 Heroin Dependence 40 0.023
777
TRP005 Trophoblastic Neoplasm 40 0.023
778
CNN002 Cannabis Abuse 40 0.023
779
c ADL001 Adult Lymphoma 39 0.023
780
c FRN036 Frontonasal Dysplasia 1 39 0.023
781
MSC004 Muscle Tissue Disease 39 0.023
782
c PRC031 Preeclampsia/eclampsia 1 39 0.023
783
TRN021 Transaldolase Deficiency 39 0.023
784
NNT008 Neonatal Abstinence Syndrome 38 0.023
785
FRN039 Frank-Ter Haar Syndrome 38 0.023
786
URT014 Ureterolithiasis 38 0.023
787
c GLL038 Galloway-Mowat Syndrome 1 37 0.023
788
CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 37 0.023
789
CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 37 0.023
790
PSD088 Pseudobulbar Affect 37 0.023
791
CNS002 Constrictive Pericarditis 36 0.023
792
P SMK004 Smoking As a Quantitative Trait Locus 3 36 0.023
793
VSC008 Vascular Hemostatic Disease 36 0.023
794
SWL001 Swallowing Disorders 36 0.023
795
GPS001 Gapo Syndrome 36 0.023
796
NNN022 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 35 0.023
797
BRB006 Barber-Say Syndrome 35 0.023
798
c INF145 Infantile Liver Failure Syndrome 1 35 0.023
799
OHD005 Ohdo Syndrome, Sbbys Variant 34 0.023
800
INF013 Inferior Myocardial Infarction 34 0.023
801
INT003 Intracranial Hypotension 34 0.023
802
PRN032 Paraneoplastic Cerebellar Degeneration 33 0.023
803
c NNN011 Noonan Syndrome 4 32 0.023
804
c PNT037 Pontocerebellar Hypoplasia, Type 3 32 0.023
805
PDC001 Podoconiosis 31 0.023
806
INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 31 0.023
807
P AST055 Asthma-Related Traits 1 30 0.023
808
ALG027 Al-Gazali-Bakalinova Syndrome 30 0.023
809
PPL059 Popliteal Pterygium Syndrome, Lethal Type 30 0.023
810
P DCR004 Dacryocystitis 29 0.023
811
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 29 0.023
812
49X001 49, Xxxxx 29 0.023
813
c CNG416 Congenital Disorder of Glycosylation, Type Iy 28 0.023
814
c MNT185 Mental Retardation, Autosomal Dominant 7 28 0.023
815
P MNT319 Mental Retardation, Autosomal Dominant 20 28 0.023
816
c CRN109 Cranioectodermal Dysplasia 2 28 0.023
817
c PMP006 Pemphigus Vulgaris, Familial 28 0.023
818
c NNN021 Noonan Syndrome 8 28 0.023
819
c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 27 0.023
820
RHY001 Rhyns Syndrome 27 0.023
821
JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 27 0.023
822
VST003 Vestibular Nystagmus 27 0.023
823
c RNG005 Ring Chromosome 10 26 0.023
824
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 26 0.023
825
HYP682 Hypertelorism, Teebi Type 26 0.023
826
c NNN013 Noonan Syndrome 6 26 0.023
827
WLL012 Williams-Beuren Region Duplication Syndrome 25 0.023
828
MNT056 Mental Retardation, X-Linked, Syndromic, Nascimento Type 25 0.023
829
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 25 0.023
830
TTR027 Tetrasomy 15q26 25 0.023
831
CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 25 0.023
832
c MNT295 Mental Retardation, X-Linked, Syndromic 33 25 0.023
833
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 25 0.023
834
DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 25 0.023
835
RCM003 Recombinant Chromosome 8 Syndrome 24 0.023
836
c MRG010 Meier-Gorlin Syndrome 3 24 0.023
837
CRC034 Carcinoma Showing Thymus-Like Differentiation 23 0.023
838
c NNN020 Noonan Syndrome 7 23 0.023
839
CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 23 0.023
840
AMN014 Aminopterin Syndrome Sine Aminopterin 23 0.023
841
CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23 0.023
842
ELC001 Elective Mutism 22 0.023
843
HYP212 Hypomandibular Faciocranial Dysostosis 21 0.023
844
RCM004 Recombinant 8 Syndrome 21 0.023
845
CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 21 0.023
846
c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 21 0.023
847
MCR305 Microcephaly with Cervical Spine Fusion Anomalies 21 0.023
848
c MRG012 Meier-Gorlin Syndrome 5 20 0.023
849
c MRG011 Meier-Gorlin Syndrome 4 20 0.023
850
c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 20 0.023
851
CLF050 Cleft Palate, Cardiac Defects, and Mental Retardation 20 0.023
852
c GLL040 Galloway-Mowat Syndrome 3 19 0.023
853
FRS010 Forsythe-Wakeling Syndrome 19 0.023
854
KNN010 Kennerknecht Syndrome 19 0.023
855
FTL058 Fetal Trimethadione Syndrome 17 0.023
856
PNC065 Pinched Nerve 16 0.023
857
CHR499 Chromosome 16q22 Deletion Syndrome 16 0.023
858
SWN003 Sweeney-Cox Syndrome 15 0.023
859
CHR400 Chromosome 6q11-Q14 Deletion Syndrome 14 0.023
860
P RTT002 Rett Syndrome 82 0.019
861
P HYP607 Hypercholesterolemia, Familial 79 0.019
862
ESP021 Esophageal Cancer 77 0.019
863
P DLT002 Dilated Cardiomyopathy 76 0.019
864
c HYP595 Hypertension, Essential 76 0.019
865
P LNG064 Lung Cancer Susceptibility 3 76 0.019
866
MNT001 Mantle Cell Lymphoma 73 0.019
867
ACR006 Aceruloplasminemia 73 0.019
868
PLM134 Pulmonary Fibrosis, Idiopathic 73 0.019
869
P MYS003 Myasthenia Gravis 72 0.019
870
CHG001 Chagas Disease 71 0.019
871
WGN006 Wegener Granulomatosis 70 0.019
872
P FLL037 Follicular Lymphoma 69 0.019
873
LPD012 Lipoid Congenital Adrenal Hyperplasia 69 0.019
874
ACR007 Acromegaly 69 0.019
875
WRN001 Werner Syndrome 69 0.019
876
BRT054 Brittle Bone Disorder 69 0.019
877
P TTR001 Tetralogy of Fallot 69 0.019
878
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 69 0.019
879
P AMY004 Amyloidosis 68 0.019
880
c NMN015 Niemann-Pick Disease, Type C1 68 0.019
881
BRK010 Burkitt Lymphoma 68 0.019
882
c JVN004 Juvenile Myelomonocytic Leukemia 67 0.019
883
P NSP012 Nasopharyngeal Carcinoma 67 0.019
884
c HMP004 Hemophilia B 67 0.019
885
P THN009 Thanatophoric Dysplasia, Type I 67 0.019
886
P MSC005 Muscular Dystrophy 66 0.019
887
DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66 0.019
888
CHR066 Chronic Fatigue Syndrome 66 0.019
889
P PRT008 Proteus Syndrome 66 0.019
890
CRP001 Carpal Tunnel Syndrome 66 0.019
891
BRN024 Bronchitis 66 0.019
892
DNG002 Dengue Hemorrhagic Fever 66 0.019
893
P THY023 Thymoma 65 0.019
894
CTN007 Cutaneous Leishmaniasis 65 0.019
895
P THL005 Thalassemia 64 0.019
896
c CHR417 Chronic Graft Versus Host Disease 64 0.019
897
P CRN015 Cornelia De Lange Syndrome 64 0.019
898
FCT002 Factor Xi Deficiency 64 0.019
899
MCK007 Muckle-Wells Syndrome 64 0.019
900
P GLL020 Gallbladder Disease 64 0.019
901
P ALP009 Alopecia Areata 63 0.019
902
c MCP050 Mucopolysaccharidosis, Type Ii 63 0.019
903
VLC001 Velocardiofacial Syndrome 63 0.019
904
OST003 Osteonecrosis 63 0.019
905
RBS001 Rabies 62 0.019
906
RCK004 Rickets 62 0.019
907
ATY005 Atypical Teratoid Rhabdoid Tumor 62 0.019
908
DPH001 Diphtheria 62 0.019
909
P CTS001 Cutis Laxa 62 0.019
910
P BRD002 Bardet-Biedl Syndrome 62 0.019
911
INT066 Interstitial Lung Disease 62 0.019
912
P CHR285 Chronic Myelomonocytic Leukemia 62 0.019
913
PTR032 Peters-Plus Syndrome 62 0.019
914
NRR002 Norrie Disease 61 0.019
915
P HRD008 Hereditary Hemorrhagic Telangiectasia 61 0.019
916
LYM021 Lymphadenitis 61 0.019
917
SPP011 Suppression of Tumorigenicity 12 61 0.019
918
P AGN002 Agnosia 61 0.019
919
PLS011 Plasmacytoma 60 0.019
920
FTT001 Fatty Liver Disease 60 0.019
921
P UVT001 Uveitis 60 0.019
922
SYN007 Synovitis 60 0.019
923
GST033 Gestational Diabetes 60 0.019
924
SDD001 Sudden Infant Death Syndrome 60 0.019
925
CLR108 Colorectal Adenoma 60 0.019
926
P HMN010 Hemangioma 60 0.019
927
CHL068 Cholestasis 60 0.019
928
QFV001 Q Fever 60 0.019
929
c ACT027 Acute Pancreatitis 60 0.019
930
SPT004 Septic Arthritis 60 0.019
931
STF001 Stiff-Person Syndrome 60 0.019
932
P LRY044 Larynx Cancer 60 0.019
933
P NMN002 Niemann-Pick Disease 60 0.019
934
P MLG056 Malignant Hyperthermia 59 0.019
935
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 59 0.019
936
WLK001 Walker-Warburg Syndrome 59 0.019
937
PGT001 Paget's Disease of Bone 59 0.019
938
CCC001 Coccidioidomycosis 59 0.019
939
c ATR087 Atrial Standstill 1 59 0.019
940
P CRD132 Cardiac Conduction Defect 59 0.019
941
P HST010 Histiocytosis 59 0.019
942
P NPH012 Nephrotic Syndrome 59 0.019
943
c CHL119 Cholangitis, Primary Sclerosing 59 0.019
944
MNK003 Muenke Syndrome 59 0.019
945
HRY003 Hairy Cell Leukemia 59 0.019
946
P FTL001 Fetal Alcohol Syndrome 59 0.019
947
PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 58 0.019
948
PRM042 Primary Effusion Lymphoma 58 0.019
949
LPD008 Lipid Metabolism Disorder 58 0.019
950
P PLY018 Polycythemia 58 0.019
951
HMF006 Hemifacial Microsomia 58 0.019
952
c ORF040 Orofaciodigital Syndrome Viii 58 0.019
953
ICH054 Ichthyosis, X-Linked 58 0.019
954
P MTR012 Mitral Valve Disease 58 0.019
955
P CFF008 Coffin-Siris Syndrome 1 58 0.019
956
P MSC007 Muscle Hypertrophy 58 0.019
957
MYX005 Myxoid Liposarcoma 58 0.019
958
PPL022 Papilloma 58 0.019
959
P LMY004 Leiomyosarcoma 58 0.019
960
THR009 Thrombocytopenia-Absent Radius Syndrome 58 0.019
961
FBR047 Fibromyalgia 57 0.019
962
c INT072 Intestinal Pseudo-Obstruction 57 0.019
963
P OCL013 Oculodentodigital Dysplasia 57 0.019
964
P THR015 Thrombophilia 57 0.019
965
c ALM001 Al Amyloidosis 57 0.019
966
DBF001 D-Bifunctional Protein Deficiency 57 0.019
967
P MMB011 Membranous Nephropathy 57 0.019
968
ECT006 Ectodermal Dysplasia 57 0.019
969
LMY002 Leiomyoma 57 0.019
970
RLP002 Relapsing-Remitting Multiple Sclerosis 57 0.019
971
FCT003 Factor X Deficiency 57 0.019
972
c ACT135 Acute Graft Versus Host Disease 56 0.019
973
c THY109 Thyroid Cancer, Nonmedullary, 1 56 0.019
974
P HYP756 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 56 0.019
975
HYP060 Hyperinsulinism 56 0.019
976
P RTH001 Rothmund-Thomson Syndrome 56 0.019
977
P STS008 Sotos Syndrome 1 56 0.019
978
P PRG013 Paraganglioma 56 0.019
979
WLL006 Wells Syndrome 56 0.019
980
P CHN012 Chondrosarcoma 56 0.019
981
P CYS018 Cystitis 56 0.019
982
ECH003 Echinococcosis 56 0.019
983
P DRM007 Dermatitis Herpetiformis 56 0.019
984
P CHL002 Childhood Absence Epilepsy 56 0.019
985
P INT070 Intestinal Obstruction 56 0.019
986
TRN015 Transient Cerebral Ischemia 56 0.019
987
c INS002 in Situ Carcinoma 56 0.019
988
DGR001 Digeorge Syndrome 55 0.019
989
DCT002 Ductal Carcinoma in Situ 55 0.019
990
MYM001 Myoma 55 0.019
991
P DNG005 Dengue Virus 55 0.019
992
NPH018 Nephrogenic Systemic Fibrosis 55 0.019
993
c GLY003 Glycogen Storage Disease Iii 55 0.019
994
ANK001 Ankylosis 55 0.019
995
RBR001 Roberts Syndrome 55 0.019
996
FDL002 Food Allergy 55 0.019
997
P EHL052 Ehlers-Danlos Syndrome, Vascular Type 55 0.019
998
P MGL013 Megalencephaly 54 0.019
999
P ACT008 Actinic Keratosis 54 0.019
1000
CRD223 Cardiac Arrhythmia 54 0.019
1001
ARS001 Aarskog-Scott Syndrome 54 0.019
1002
MCN007 Meconium Aspiration Syndrome 54 0.019
1003
c CRP023 Carpenter Syndrome 1 54 0.019
1004
ALS001 Alstrom Syndrome 54 0.019
1005
CND002 Conduct Disorder 54 0.019
1006
ENT011 Enterocolitis 54 0.019
1007
ESP020 Esophageal Atresia 53 0.019
1008
PGM001 Pigmented Villonodular Synovitis 53 0.019
1009
CLR109 Colorectal Adenocarcinoma 53 0.019
1010
P THY054 Thyrotoxic Periodic Paralysis 53 0.019
1011
MCR004 Macroglobulinemia 53 0.019
1012
P SCL009 Sclerosing Cholangitis 53 0.019
1013
KNS001 Kniest Dysplasia 53 0.019
1014
LMY014 Leiomyoma, Uterine 53 0.019
1015
PLS025 Plasmablastic Lymphoma 53 0.019
1016
SNS003 Sensory Peripheral Neuropathy 53 0.019
1017
GTR002 Goiter 52 0.019
1018
DST005 Diastrophic Dysplasia 52 0.019
1019
DSS008 Disease of Mental Health 52 0.019
1020
FBR032 Fibromuscular Dysplasia 52 0.019
1021
P ERY008 Erythromelalgia 52 0.019
1022
MCN001 Mucinous Adenocarcinoma 52 0.019
1023
P PTT006 Pituitary Adenoma 52 0.019
1024
c XRD031 Xeroderma Pigmentosum, Complementation Group F 52 0.019
1025
NNT017 Neonatal Adrenoleukodystrophy 52 0.019
1026
c INV001 Invasive Aspergillosis 52 0.019
1027
PNC041 Pancreatic Ductal Adenocarcinoma 52 0.019
1028
WLF002 Wolf-Hirschhorn Syndrome 52 0.019
1029
STM006 Stomach Disease 52 0.019
1030
URM002 Uremia 52 0.019
1031
INT007 Intermediate Coronary Syndrome 52 0.019
1032
CRN030 Coronary Stenosis 51 0.019
1033
HYP080 Hypogonadism 51 0.019
1034
RHM028 Rheumatic Heart Disease 51 0.019
1035
BRT005 Barth Syndrome 51 0.019
1036
c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51 0.019
1037
MYL003 Myeloid Sarcoma 51 0.019
1038
CCN001 Cocaine Dependence 51 0.019
1039
HMS001 Hemosiderosis 51 0.019
1040
c FRS014 Fraser Syndrome 1 51 0.019
1041
MCP006 Mucoepidermoid Carcinoma 51 0.019
1042
P EST001 Estrogen-Receptor Positive Breast Cancer 51 0.019
1043
ACH005 Achalasia 51 0.019
1044
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 51 0.019
1045
AGN012 Agnathia-Otocephaly Complex 51 0.019
1046
OST044 Osteoglophonic Dysplasia 51 0.019
1047
DRG003 Drug Dependence 51 0.019
1048
NNT012 Neonatal Jaundice 51 0.019
1049
INT067 Interstitial Nephritis 50 0.019
1050
P END046 Endometritis 50 0.019
1051
ATN005 Autonomic Dysfunction 50 0.019
1052
CCH002 Coach Syndrome 50 0.019
1053
CHR101 Char Syndrome 50 0.019
1054
P HML001 Hemolytic-Uremic Syndrome 50 0.019
1055
BLL001 Baller-Gerold Syndrome 50 0.019
1056
NSD001 Nose Disease 50 0.019
1057
PLC007 Placental Abruption 50 0.019
1058
MMB001 Membranoproliferative Glomerulonephritis 50 0.019
1059
LGS001 Legius Syndrome 50 0.019
1060
ANT003 Antley-Bixler Syndrome 50 0.019
1061
HRP009 Herpes Simplex Encephalitis 50 0.019
1062
HNN001 Hennekam Syndrome 50 0.019
1063
P OVR046 Ovarian Cyst 50 0.019
1064
ANG018 Angiomyolipoma 49 0.019
1065
GNG011 Gingival Disease 49 0.019
1066
URN003 Urinary Schistosomiasis 49 0.019
1067
CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 49 0.019
1068
ACT017 Acute Chest Syndrome 49 0.019
1069
ORT008 Orotic Aciduria 49 0.019
1070
P FBR025 Fibrochondrogenesis 49 0.019
1071
EXT010 Extramedullary Plasmacytoma 49 0.019
1072
P MRC003 Mercury Poisoning 49 0.019
1073
PNN001 Panniculitis 49 0.019
1074
HMP009 Haemophilus Influenzae 49 0.019
1075
RFR010 Refractory Anemia 49 0.019
1076
BLL003 Bell's Palsy 49 0.019
1077
PPL021 Papilledema 49 0.019
1078
SLP001 Sleeping Sickness 49 0.019
1079
c EPL169 Epileptic Encephalopathy, Early Infantile, 36 48 0.019
1080
PNC119 Pancreatic Neuroendocrine Tumor 48 0.019
1081
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 48 0.019
1082
c ORF037 Orofaciodigital Syndrome I 48 0.019
1083
MLL018 Miller-Dieker Lissencephaly Syndrome 48 0.019
1084
PLL012 Pollen Allergy 48 0.019
1085
DDN006 Duodenitis 48 0.019
1086
GLY014 Glycerol Kinase Deficiency 48 0.019
1087
HRT015 Heritable Pulmonary Arterial Hypertension 48 0.019
1088
GLD006 Goldberg-Shprintzen Syndrome 47 0.019
1089
CHR074 Choriocarcinoma 47 0.019
1090
c CRN139 Cornelia De Lange Syndrome 1 47 0.019
1091
SYN031 Synovial Chondromatosis 47 0.019
1092
VTM002 Vitamin B12 Deficiency 47 0.019
1093
KDN015 Kidney Angiomyolipoma 47 0.019
1094
NNN026 Noonan Syndrome with Multiple Lentigines 46 0.019
1095
AGR002 Agoraphobia 46 0.019
1096
OBS037 Obesity-Hypoventilation Syndrome 46 0.019
1097
TND004 Tendinopathy 46 0.019
1098
HDR003 Hidradenitis 46 0.019
1099
CHR008 Choroiditis 46 0.019
1100
CYS008 Cystic Echinococcosis 46 0.019
1101
c MLG079 Malignant Pleural Mesothelioma 46 0.019
1102
FTL021 Fetal Macrosomia 46 0.019
1103
RCR004 Recurrent Respiratory Papillomatosis 46 0.019
1104
VCS001 Vici Syndrome 46 0.019
1105
c MTR002 Mitral Valve Insufficiency 46 0.019
1106
SPL018 Splenomegaly 46 0.019
1107
GLC106 Glucocorticoid Resistance, Generalized 46 0.019
1108
HYP347 Hypotonia-Cystinuria Syndrome 46 0.019
1109
P FNG006 Feingold Syndrome 1 45 0.019
1110
MLK006 Milk Allergy 45 0.019
1111
P CNN004 Connective Tissue Cancer 45 0.019
1112
SPN119 Spondylarthropathy 45 0.019
1113
c ATS082 Autosomal Dominant Robinow Syndrome 45 0.019
1114
CRN031 Cranial Nerve Disease 45 0.019
1115
c SPL024 Split-Hand/foot Malformation 3 45 0.019
1116
MLT134 Multiple Pterygium Syndrome, Lethal Type 45 0.019
1117
SHR098 Short-Rib Thoracic Dysplasia 12 45 0.019
1118
IMP004 Impetigo 45 0.019
1119
PRD004 Prediabetes Syndrome 45 0.019
1120
c PSD106 Pseudo-Torch Syndrome 1 45 0.019
1121
P MSC022 Mosaic Variegated Aneuploidy Syndrome 45 0.019
1122
EXS001 Exostosis 45 0.019
1123
MYC013 Mycobacterium Abscessus 45 0.019
1124
VTR016 Vater/vacterl Association 45 0.019
1125
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 45 0.019
1126
HRT012 Heart Valve Disease 44 0.019
1127
GST010 Gestational Trophoblastic Neoplasm 44 0.019
1128
MCL003 Macular Holes 44 0.019
1129
CNT060 Central Serous Chorioretinopathy 44 0.019
1130