Search results for unilateral renal dysplasia

694 hits were found for unilateral renal dysplasia

# Family MCID Name MIFTS Score
1
UNL014 Unilateral Multicystic Dysplastic Kidney 17 2.351
2
MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 25 1.811
3
RNL106 Renal Dysplasia, Unilateral 7 1.602
4
RNL114 Renal Cell Carcinoma, Nonpapillary 68 0.543
5
P KDN018 Kidney Disease 69 0.362
6
P RNL100 Renal Hypodysplasia/aplasia 1 57 0.314
7
RNL078 Renal Dysplasia 49 0.295
8
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.289
9
FBR032 Fibromuscular Dysplasia 53 0.276
10
URT010 Ureteral Obstruction 49 0.273
11
c BLD140 Blood Group, I System 37 0.267
12
P ADN016 Adenocarcinoma 71 0.262
13
FBR009 Fibrous Dysplasia 49 0.230
14
CRB009 Cerebritis 41 0.215
15
c CHR089 Chronic Kidney Failure 72 0.211
16
AGN016 Aging 65 0.203
17
RNL105 Renal Agenesis, Unilateral 35 0.200
18
CLF001 Cleft Lip 54 0.196
19
RNL077 Renal Fibrosis 49 0.194
20
P HPT021 Hepatitis 75 0.193
21
RTN023 Retinitis 52 0.189
22
ANR040 Aneurysm 61 0.189
23
P CRV039 Cervicitis 49 0.178
24
ADN018 Adenoma 63 0.176
25
P RNL015 Renal Hypertension 46 0.175
26
END072 Endotheliitis 46 0.172
27
P KDN017 Kidney Cancer 66 0.171
28
ISC004 Ischemia 66 0.168
29
P ANR048 Aniridia 1 68 0.166
30
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.162
31
ANR038 Anorexia Nervosa 1 21 0.162
32
BLD137 Blood Group--Ahonen 17 0.162
33
P DBT009 Diabetes Mellitus 72 0.158
34
P PYL005 Pyelonephritis 56 0.157
35
P MYC084 Mycobacterium Tuberculosis 1 69 0.156
36
HYD002 Hydronephrosis 49 0.155
37
VSC007 Vascular Disease 71 0.155
38
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.153
39
P GLM007 Glomerulonephritis 61 0.150
40
ANG018 Angiomyolipoma 50 0.145
41
c BRN108 Branchiootic Syndrome 1 47 0.144
42
P TBR001 Tuberous Sclerosis 69 0.142
43
P RNV001 Renovascular Hypertension 48 0.141
44
THR024 Thrombosis 61 0.140
45
P LYM118 Lymphoma 71 0.139
46
SQM006 Squamous Cell Carcinoma 74 0.139
47
NRN002 Neuronitis 43 0.138
48
P THY032 Thyroiditis 56 0.137
49
P HRT032 Heart Disease 80 0.137
50
P LKM002 Leukemia 75 0.136
51
P HYP069 Hyperparathyroidism 58 0.136
52
ALR002 Al-Raqad Syndrome 30 0.131
53
P NRP001 Neuropathy 63 0.130
54
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.129
55
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.129
56
RNL025 Renal Hypoplasia 37 0.127
57
c WLM011 Wilms Tumor 6 44 0.127
58
URT001 Urethritis 44 0.125
59
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.124
60
P EPL164 Epilepsy 70 0.123
61
SPT006 Septooptic Dysplasia 54 0.122
62
HYP266 Hypoxia 61 0.122
63
P PLY006 Polydactyly 57 0.120
64
c VSC019 Vesicoureteral Reflux 1 54 0.117
65
P ENC018 Encephalopathy 58 0.116
66
P PNC044 Pancreatitis 64 0.116
67
HRS011 Horseshoe Kidney 35 0.115
68
MLN008 Melanoma 72 0.115
69
P RTN024 Retinoblastoma 76 0.115
70
P ART022 Arthritis 77 0.114
71
SRC014 Sarcoma 68 0.114
72
P PLY014 Polycystic Kidney Disease 60 0.113
73
ART140 Arteries, Anomalies of 51 0.113
74
SNS001 Sensorineural Hearing Loss 59 0.111
75
CNG034 Congestive Heart Failure 74 0.110
76
P PLM037 Pulmonary Hypertension 79 0.109
77
P ESP024 Esophagitis 64 0.108
78
HPT082 Hepatic Adenomas, Familial 52 0.108
79
PRS047 Prostatitis 59 0.108
80
ANR004 Anuria 49 0.107
81
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.107
82
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.106
83
c WLM018 Wilms Tumor 5 49 0.106
84
P CTR002 Cataract 60 0.106
85
P NPH012 Nephrotic Syndrome 60 0.105
86
RNL094 Renal Dysplasia, Cystic 29 0.104
87
VSC011 Vasculitis 66 0.104
88
MCC012 Mccune-Albright Syndrome 65 0.104
89
c TBR025 Tuberous Sclerosis 1 63 0.103
90
SYN005 Synostosis 50 0.103
91
c PST041 Posterior Urethral Valves 51 0.102
92
P PNM007 Pneumonia 70 0.102
93
SPS057 Spasticity 41 0.101
94
NRR001 Neuroretinitis 46 0.101
95
P HYP024 Hypoparathyroidism 55 0.100
96
P BRS047 Breast Cancer 100 0.100
97
P FRN036 Frontonasal Dysplasia 1 39 0.099
98
c ATS347 Autosomal Dominant Polycystic Kidney Disease 61 0.099
99
PLM010 Pulmonary Edema 57 0.099
100
OST012 Osteoarthritis 88 0.098
101
CLB010 Coloboma of Macula 52 0.098
102
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.098
103
ALP046 Alport Syndrome, X-Linked 74 0.097
104
LNG099 Lung Disease 67 0.096
105
NPH003 Nephrocalcinosis 49 0.096
106
P HYP086 Hypothyroidism 62 0.093
107
VGN023 Vaginitis 59 0.093
108
CLF004 Cleft Lip/palate 49 0.092
109
DWR001 Dwarfism 48 0.092
110
P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 41 0.091
111
CHN065 Choanal Atresia, Posterior 43 0.090
112
c MLG069 Malignant Hypertension 49 0.090
113
NPH009 Nephrolithiasis 57 0.089
114
RNL024 Renal Glucosuria 50 0.089
115
TRN018 Transitional Cell Carcinoma 58 0.088
116
VNH007 Von Hippel-Lindau Syndrome 72 0.088
117
INT067 Interstitial Nephritis 51 0.088
118
P LNG032 Lung Cancer 99 0.088
119
NPH010 Nephrosclerosis 46 0.087
120
MLT084 Multicystic Dysplastic Kidney 36 0.087
121
P HYP726 Hypercalcemia, Infantile, 1 57 0.087
122
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.086
123
P MYP006 Myopia 56 0.086
124
CHR619 Chromosome 2q35 Duplication Syndrome 62 0.085
125
P MNN013 Meningitis 71 0.085
126
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.084
127
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.084
128
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.084
129
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.084
130
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.084
131
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.084
132
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.084
133
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.084
134
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.084
135
CYS039 Cystic Kidney Disease 49 0.084
136
P MYC007 Myocardial Infarction 81 0.084
137
P LVR013 Liver Disease 76 0.084
138
PRP030 Purpura 61 0.083
139
CLT003 Colitis 63 0.083
140
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.083
141
GNG013 Gingivitis 64 0.082
142
ART016 Aortic Aneurysm 70 0.082
143
P SNS014 Sinusitis 62 0.082
144
c FCL025 Focal Segmental Glomerulosclerosis 1 59 0.082
145
GST050 Gastrointestinal System Disease 66 0.082
146
HMF006 Hemifacial Microsomia 58 0.082
147
CNN003 Conn's Syndrome 70 0.081
148
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.081
149
P MYP004 Myopathy 69 0.081
150
P ART023 Arthropathy 68 0.081
151
P CRN018 Coronary Artery Anomaly 69 0.080
152
SPN027 Spinal Stenosis 60 0.080
153
CHR008 Choroiditis 47 0.079
154
HDC001 Headache 55 0.078
155
HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 51 0.078
156
URN010 Urinary Tract Obstruction 57 0.078
157
P RNL028 Renal Tubular Dysgenesis 49 0.077
158
ACQ007 Acquired Immunodeficiency Syndrome 65 0.077
159
URT020 Ureterocele 37 0.077
160
ACH004 Achondroplasia 67 0.077
161
P FCL005 Focal Segmental Glomerulosclerosis 60 0.076
162
CRB039 Cerebrovascular Disease 68 0.076
163
P LRY019 Laryngitis 57 0.076
164
P BRC006 Brachydactyly 57 0.076
165
P EXN002 Exanthem 62 0.076
166
STS002 Situs Inversus 48 0.075
167
RNL001 Renal Artery Obstruction 31 0.074
168
P UVT001 Uveitis 61 0.074
169
P MCR010 Microcephaly 57 0.074
170
ADP007 Adie Pupil 41 0.074
171
P OST002 Osteoporosis 75 0.073
172
P NRV007 Nervous System Disease 75 0.073
173
c MNN043 Meningioma, Familial 69 0.073
174
P INF032 Infertility 59 0.073
175
c PRM005 Primary Hyperparathyroidism 59 0.073
176
P RHM011 Rheumatoid Arthritis 91 0.073
177
P TRT010 Teratoma 53 0.073
178
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.073
179
P CRN037 Craniosynostosis 68 0.072
180
CLF027 Cleft Palate, Isolated 61 0.072
181
NRT004 Neuritis 55 0.072
182
P ART084 Arteriovenous Fistula 46 0.072
183
PLY112 Polyarteritis Nodosa, Childhood-Onset 39 0.072
184
PLY024 Polymicrogyria 36 0.072
185
P LPM005 Lipomatosis 50 0.072
186
c CNT035 Central Nervous System Disease 65 0.071
187
FCL012 Facial Paralysis 50 0.071
188
MCR013 Microphthalmia 61 0.071
189
P OST001 Osteopetrosis 70 0.071
190
P PTS002 Ptosis 50 0.071
191
P SCL018 Scoliosis 56 0.071
192
SPS003 Spastic Diplegia 55 0.071
193
P PHC003 Pheochromocytoma 72 0.070
194
MDL009 Medullary Sponge Kidney 46 0.070
195
ULC004 Ulcerative Colitis 80 0.070
196
P UTR058 Uterine Anomalies 55 0.070
197
CLC006 Calcinosis 51 0.070
198
GGN002 Gigantism 36 0.069
199
HYP005 Hypokalemia 53 0.069
200
P THR117 Three M Syndrome 1 52 0.069
201
P HPT023 Hepatocellular Carcinoma 94 0.069
202
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53 0.069
203
PLN006 Poland Syndrome 50 0.068
204
c INS002 in Situ Carcinoma 56 0.068
205
c HPT003 Hepatitis a 63 0.067
206
P RTN008 Retinitis Pigmentosa 81 0.067
207
P HMN010 Hemangioma 61 0.067
208
PNM008 Pneumothorax 57 0.067
209
RDC002 Radiculopathy 55 0.067
210
P LYM025 Lymphedema 63 0.066
211
P HYD006 Hydrocephalus 68 0.066
212
RTR011 Retroperitoneal Fibrosis 43 0.066
213
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.066
214
URM002 Uremia 52 0.065
215
BNF002 Bone Fracture 56 0.065
216
P MYM013 Moyamoya Disease 1 50 0.065
217
RNL051 Renal Cysts and Diabetes Syndrome 45 0.065
218
P PLY017 Polyarteritis Nodosa 51 0.065
219
TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 21 0.065
220
ADR008 Adrenal Adenoma 51 0.065
221
AST005 Asthma 83 0.064
222
P MYL006 Myeloid Leukemia 69 0.064
223
P FNC043 Fanconi Anemia, Complementation Group E 52 0.064
224
PPL022 Papilloma 58 0.064
225
P HYP265 Hypotonia 40 0.064
226
RNL097 Renal Artery Disease 38 0.063
227
ANS023 Anus, Imperforate 50 0.063
228
DYS018 Dysostosis 48 0.063
229
RTN017 Retinal Detachment 59 0.063
230
P CNJ013 Conjunctivitis 67 0.063
231
BLD163 Blood Group, Dombrock System 23 0.063
232
CRB045 Cerebellar Hypoplasia 48 0.063
233
P PRD008 Periodontitis 67 0.063
234
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 51 0.062
235
ORL015 Oral Squamous Cell Carcinoma 59 0.062
236
P TRN020 Turner Syndrome 69 0.062
237
P ALP008 Alopecia 56 0.062
238
SPN331 Spondyloocular Syndrome 34 0.062
239
CHR078 Chorioretinitis 41 0.061
240
PLY110 Polymicrogyria, Bilateral Temporooccipital 32 0.061
241
P TRM003 Tremor 54 0.061
242
ING001 Inguinal Hernia 59 0.061
243
BKS003 Beukes Hip Dysplasia 32 0.060
244
MCS002 Mucositis 61 0.060
245
P PRS040 Prostate Cancer 88 0.060
246
RSP006 Respiratory System Disease 63 0.060
247
BNM029 Bone Mineral Density Quantitative Trait Locus 15 39 0.060
248
P MLT074 Multiple Endocrine Neoplasia 55 0.060
249
P PSR002 Psoriasis 65 0.060
250
STR067 Stroke, Ischemic 84 0.060
251
c LBR014 Leber Congenital Amaurosis 4 48 0.059
252
PNG002 Pain Agnosia 41 0.059
253
P TTR001 Tetralogy of Fallot 70 0.059
254
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40 0.059
255
HYD005 Hydrocele 51 0.059
256
ACN002 Acanthosis Nigricans 60 0.059
257
P ENC004 Encephalitis 66 0.059
258
BRC012 Brucellosis 71 0.059
259
P HML001 Hemolytic-Uremic Syndrome 50 0.059
260
HMP005 Hemiplegia 54 0.059
261
c ART138 Aortic Aneurysm, Familial Abdominal, 1 59 0.059
262
BNM022 Bone Mineral Density Quantitative Trait Locus 8 32 0.059
263
RHM027 Rheumatic Disease 62 0.058
264
HYP068 Hyperostosis 52 0.058
265
P ICH004 Ichthyosis 54 0.058
266
P RHB003 Rhabdomyosarcoma 61 0.058
267
PRN038 Prune Belly Syndrome 55 0.058
268
BRS090 Breast Reconstruction 41 0.058
269
MTH009 Mouth Disease 64 0.058
270
BRT054 Brittle Bone Disorder 67 0.058
271
c LKM061 Leukemia, Acute Myeloid 81 0.057
272
P INF038 Influenza 77 0.057
273
DYS073 Dysphagia 47 0.057
274
P PRT008 Proteus Syndrome 67 0.057
275
ANH002 Anhidrosis 45 0.057
276
c ACT075 Acute Myocardial Infarction 64 0.057
277
P THL005 Thalassemia 65 0.057
278
FCL009 Focal Dermal Hypoplasia 57 0.057
279
P RTN014 Retinal Artery Occlusion 45 0.056
280
P INT068 Intestinal Disease 65 0.056
281
P CLL015 Collagen Disease 53 0.056
282
P RSP003 Respiratory Failure 71 0.056
283
DDN006 Duodenitis 46 0.056
284
ART031 Aortic Coarctation 48 0.056
285
VTR016 Vater/vacterl Association 37 0.056
286
OPT009 Optic Neuritis 53 0.055
287
HYP748 Hypertelorism 46 0.055
288
HYP080 Hypogonadism 54 0.055
289
SLP010 Slipped Capital Femoral Epiphysis 37 0.055
290
P MYS005 Myositis 63 0.055
291
P CHL066 Cholangitis 52 0.055
292
P TRC086 Trichohepatoenteric Syndrome 1 54 0.054
293
P NRB001 Neuroblastoma 73 0.054
294
P MSC005 Muscular Dystrophy 66 0.054
295
EPP010 Epiphysiolysis of the Hip 20 0.054
296
CYS013 Cystinuria 64 0.054
297
GTR002 Goiter 53 0.054
298
KRT009 Keratosis 53 0.054
299
CLL003 Cellulitis 53 0.054
300
P JBR020 Joubert Syndrome 1 68 0.054
301
c RNL099 Renal Hypodysplasia/aplasia 2 18 0.054
302
P BCK002 Beckwith-Wiedemann Syndrome 58 0.054
303
P HLP001 Holoprosencephaly 67 0.054
304
P KLL001 Kallmann Syndrome 63 0.054
305
P ENC008 Encephalocele 48 0.054
306
P PLY019 Polyneuropathy 58 0.053
307
P HYP120 Hypoaldosteronism 40 0.053
308
MGR028 Migraine with or Without Aura 1 55 0.053
309
ORC001 Orchitis 34 0.053
310
P LYD001 Leydig Cell Tumor 47 0.053
311
CYS009 Cystadenoma 44 0.053
312
CRN051 Craniofacial Microsomia 27 0.053
313
ARS001 Aarskog-Scott Syndrome 55 0.053
314
CRT008 Carotid Artery Dissection 42 0.053
315
LYM007 Lymphangioleiomyomatosis 68 0.053
316
CRY004 Cryoglobulinemia 49 0.053
317
KLD001 Keloids 50 0.053
318
P SYP003 Syphilis 55 0.053
319
PLL001 Pallister-Hall Syndrome 59 0.053
320
P GLM045 Glioma 61 0.053
321
ENT004 Enthesopathy 38 0.052
322
MNT002 Mental Depression 60 0.052
323
NRF007 Neurofibroma 65 0.052
324
KRT019 Keratitis, Hereditary 62 0.052
325
P OSS001 Ossifying Fibroma 45 0.052
326
OST017 Osteomyelitis 64 0.052
327
P PTN014 Patent Ductus Arteriosus 1 45 0.052
328
HYP730 Hypogonadotropic Hypogonadism 56 0.052
329
P HRP006 Herpes Simplex 70 0.052
330
P ANT006 Antiphospholipid Syndrome 59 0.052
331
PST011 Pustulosis of Palm and Sole 47 0.051
332
ESP020 Esophageal Atresia 54 0.051
333
INT075 Intracranial Hypertension 53 0.051
334
ISC002 Ischemic Optic Neuropathy 48 0.051
335
GST045 Gastroenteritis 65 0.051
336
BRN106 Burns 57 0.051
337
HYP056 Hypoglycemia 62 0.051
338
AYM001 Ayme-Gripp Syndrome 40 0.051
339
P CND004 Candidiasis 61 0.051
340
CRH001 Crohn's Disease 80 0.050
341
P END044 Endometriosis 71 0.050
342
ANX010 Anxiety 72 0.050
343
P KLP003 Klippel-Feil Syndrome 46 0.050
344
P RHN004 Rhinitis 62 0.050
345
P HYP076 Hyperthyroidism 56 0.050
346
P THY109 Thyroid Cancer, Nonmedullary, 1 64 0.050
347
OST003 Osteonecrosis 63 0.050
348
P LBY004 Labyrinthitis 41 0.050
349
P PRK001 Porokeratosis 49 0.050
350
CLR003 Clear Cell Adenocarcinoma 57 0.050
351
CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 50 0.050
352
c FRS014 Fraser Syndrome 1 51 0.050
353
HMG002 Hemoglobinuria 52 0.050
354
URT014 Ureterolithiasis 38 0.049
355
CRB086 Cerebral Aneurysms 42 0.049
356
RTN018 Retinal Disease 56 0.049
357
BCK006 Back Pain 46 0.049
358
P HMR003 Hemorrhagic Disease 61 0.049
359
P PSD015 Pseudohypoparathyroidism 50 0.049
360
HYP077 Hypertrichosis 49 0.049
361
P AST007 Astrocytoma 66 0.049
362
HDN002 Head Injury 48 0.049
363
c BRT038 Baraitser-Winter Syndrome 1 37 0.048
364
PNL023 Penile Agenesis 25 0.048
365
TRC040 Tracheoesophageal Fistula 47 0.048
366
RPP001 Rapp-Hodgkin Syndrome 51 0.048
367
MCR310 Microgastria-Limb Reduction Defects Association 23 0.048
368
c LPM012 Lipomatosis, Multiple 64 0.048
369
P SLP006 Sleep Apnea 65 0.048
370
P INT030 Intracranial Aneurysm 58 0.048
371
DNY001 Denys-Drash Syndrome 54 0.048
372
P BLD134 Bladder Cancer 78 0.048
373
GND001 Gonadoblastoma 43 0.047
374
IRN002 Iron Metabolism Disease 45 0.047
375
c SCL052 Scleroderma, Familial Progressive 60 0.047
376
P HML002 Hemolytic Anemia 62 0.047
377
c CRN109 Cranioectodermal Dysplasia 2 25 0.047
378
CRT013 Carotid Stenosis 52 0.047
379
WLL001 Williams-Beuren Syndrome 63 0.047
380
SLP005 Sleep Disorder 59 0.047
381
P TRT019 Torticollis 45 0.047
382
CHL065 Cholangiocarcinoma 70 0.047
383
P GND004 Gonadal Dysgenesis 50 0.047
384
P STS008 Sotos Syndrome 1 56 0.047
385
ANG020 Angiosarcoma 57 0.046
386
SPN060 Spondylocarpotarsal Synostosis Syndrome 41 0.046
387
P RTN022 Retinal Vein Occlusion 53 0.046
388
INN002 Inner Ear Disease 52 0.046
389
P RNG031 Ring Chromosome Y Syndrome 29 0.046
390
P PRK057 Parkinson Disease, Late-Onset 78 0.046
391
DGR001 Digeorge Syndrome 55 0.046
392
MYC033 Myoclonus 40 0.046
393
P HYP040 Hypospadias 60 0.046
394
CHR501 Chromosome 17q12 Deletion Syndrome 34 0.046
395
LMB062 Limb Ischemia 52 0.046
396
BRN002 Bronchiolitis 59 0.046
397
TST014 Testicular Cancer 54 0.045
398
c CNT028 Central Retinal Artery Occlusion 40 0.045
399
c WLM013 Wilms Tumor 1 69 0.045
400
LYM095 Lymphangiomatosis 35 0.045
401
P PMP001 Pemphigus 55 0.045
402
P CYS018 Cystitis 57 0.045
403
VCT001 Vacterl Association 41 0.045
404
P EHL001 Ehlers-Danlos Syndrome 61 0.045
405
WBR001 Weber Syndrome 40 0.045
406
PTR032 Peters-Plus Syndrome 60 0.044
407
P GRV001 Graves' Disease 62 0.044
408
NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 58 0.044
409
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 36 0.044
410
P PTT006 Pituitary Adenoma 57 0.044
411
P PLY018 Polycythemia 60 0.044
412
PLM068 Pulmonary Vein Stenosis 43 0.044
413
PTT037 Pituitary Tumors 49 0.044
414
P TMP003 Temporal Arteritis 67 0.044
415
ACR007 Acromegaly 70 0.044
416
P BLD124 Bleeding Disorder, Platelet-Type, 11 38 0.044
417
PLY012 Polyhydramnios 47 0.044
418
LYM133 Lymphoma, Hodgkin, Classic 78 0.044
419
PTT046 Pituitary Hormone Deficiency, Combined, 2 57 0.043
420
HYD012 Hydrops Fetalis 50 0.043
421
HYD059 Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 34 0.043
422
HMF010 Hemifacial Microsomia with Radial Defects 31 0.043
423
STR039 Sturge-Weber Syndrome 59 0.043
424
DWN001 Down Syndrome 70 0.043
425
SKN016 Skin Disease 68 0.043
426
LMB050 Limbal Stem Cell Deficiency 47 0.043
427
TND004 Tendinopathy 45 0.043
428
FBR019 Fibromatosis 47 0.043
429
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 0.043
430
BFD002 Bifid Nose with or Without Anorectal and Renal Anomalies 24 0.043
431
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.042
432
c MCR263 Microphthalmia, Syndromic 1 41 0.042
433
INV006 Inverted Papilloma 36 0.042
434
c DPH024 Diaphragmatic Hernia, Congenital 63 0.042
435
NRM005 Neuromuscular Disease 60 0.042
436
c ACT210 Acute Respiratory Distress Syndrome 63 0.042
437
c RTS003 Ritscher-Schinzel Syndrome 1 36 0.042
438
P KBK002 Kabuki Syndrome 1 62 0.042
439
MLR002 Miliary Tuberculosis 40 0.042
440
P CHL069 Cholesteatoma 52 0.042
441
PRT029 Parathyroid Adenoma 50 0.042
442
PYG006 Pyogenic Granuloma 45 0.042
443
ICH054 Ichthyosis, X-Linked 59 0.042
444
P CMP008 Compartment Syndrome 48 0.041
445
INT002 Intermittent Claudication 61 0.041
446
SRN002 Sirenomelia 33 0.041
447
BRN022 Bronchiectasis 55 0.041
448
CHR178 Chromosomal Triplication 35 0.041
449
P OMP004 Omphalocele 51 0.041
450
MYL020 Myelomeningocele 54 0.041
451
P MLT008 Multinodular Goiter 44 0.041
452
ANG011 Angiodysplasia 48 0.041
453
ADR054 Adrenocortical Carcinoma, Hereditary 63 0.041
454
STT001 Status Epilepticus 60 0.040
455
TKY002 Takayasu Arteritis 66 0.040
456
P ACT150 Acute Adrenal Insufficiency 51 0.040
457
SPN186 Spinal Cord Injury 67 0.040
458
CRD119 Cardiac Arrest 63 0.040
459
CVR006 Cavernous Hemangioma 48 0.040
460
HMG010 Hemoglobinemia 29 0.040
461
P MLT020 Multiple Sclerosis 85 0.040
462
CRT016 Carotid Artery Disease 58 0.040
463
WRN001 Werner Syndrome 70 0.040
464
P ADL010 Adult Respiratory Distress Syndrome 67 0.040
465
WLL006 Wells Syndrome 57 0.040
466
ACR058 Acrofacial Dysostosis 1, Nager Type 46 0.040
467
ACR006 Aceruloplasminemia 65 0.040
468
c SPN225 Spondyloarthropathy 1 71 0.040
469
P ESS003 Essential Thrombocythemia 71 0.039
470
GST019 Gastrointestinal Stromal Tumor 74 0.039
471
APN008 Apnea, Obstructive Sleep 67 0.039
472
c VRL010 Viral Hepatitis 59 0.039
473
P TXP001 Toxoplasmosis 65 0.039
474
HMH004 Hemihyperplasia, Isolated 43 0.039
475
P RBL001 Rubella 61 0.039
476
P CYS017 Cystic Teratoma 40 0.039
477
RCR004 Recurrent Respiratory Papillomatosis 47 0.039
478
P SZR006 Seizure Disorder 55 0.039
479
HYP064 Hypogonadotropism 38 0.039
480
MRC004 Murcs Association 31 0.039
481
LYM035 Lymphangiectasis 31 0.039
482
c PLM164 Pulmonary Hypertension, Primary, 1 67 0.038
483
THR013 Thoracic Outlet Syndrome 50 0.038
484
P MSC003 Muscular Atrophy 55 0.038
485
P PNV001 Panuveitis 52 0.038
486
CHR072 Chordoma 61 0.038
487
BRN012 Bronchiolitis Obliterans 60 0.038
488
P THR015 Thrombophilia 58 0.038
489
KRT001 Keratoconjunctivitis Sicca 63 0.038
490
c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 36 0.038
491
BDY007 Body Mass Index Quantitative Trait Locus 1 23 0.038
492
STN006 Steinfeld Syndrome 26 0.038
493
P SYR001 Syringomyelia 49 0.038
494
SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 22 0.038
495
INF058 Inflammatory Myofibroblastic Tumor 49 0.038
496
MSC033 Muscle Disorders 53 0.038
497
P FML011 Familial Adenomatous Polyposis 71 0.037
498
LYM022 Lymphangioma 53 0.037
499
EPD016 Epidermolysis Bullosa 57 0.037
500
HYP008 Hypertensive Retinopathy 39 0.037
501
c NRF024 Neurofibromatosis, Type I 63 0.037
502
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.037
503
MCK007 Muckle-Wells Syndrome 64 0.037
504
ANG037 Angiomatosis 36 0.037
505
MCR037 Macroglossia 44 0.037
506
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 48 0.037
507
NVS017 Nevus, Epidermal 66 0.037
508
GRW036 Growth Control, Y-Chromosome Influenced 33 0.037
509
MSL001 Measles 64 0.036
510
PTN001 Patent Foramen Ovale 58 0.036
511
DRM006 Dermatitis 67 0.036
512
DRM013 Dermoid Cyst 43 0.036
513
PTT048 Pituitary Adenoma, Prolactin-Secreting 63 0.036
514
NSP002 Nasopharyngitis 46 0.036
515
P MXL015 Maxillary Sinusitis 39 0.036
516
P HYP061 Hypertrophic Cardiomyopathy 65 0.036
517
SYN036 Syncope 46 0.036
518
HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 40 0.036
519
P TRC072 Treacher Collins Syndrome 1 61 0.036
520
GST009 Gastroschisis 55 0.036
521
RCT017 Rectal Disease 38 0.036
522
HYD001 Hydranencephaly 36 0.036
523
PRP019 Peripheral Nervous System Disease 53 0.036
524
P CHR285 Chronic Myelomonocytic Leukemia 63 0.036
525
c MCL042 Macular Degeneration, Age-Related, 1 79 0.036
526
CHR103 Charge Syndrome 59 0.036
527
KRT008 Keratopathy 44 0.036
528
P PLM036 Pulmonary Fibrosis 68 0.036
529
PHR003 Pharyngitis 59 0.036
530
PHN003 Phenylketonuria 73 0.036
531
VLC001 Velocardiofacial Syndrome 64 0.036
532
P PRV002 Periventricular Nodular Heterotopia 44 0.035
533
c MLT156 Multiple Endocrine Neoplasia, Type I 70 0.035
534
P NNN008 Noonan Syndrome 1 77 0.035
535
c PSD047 Pseudo-Turner Syndrome 15 0.035
536
GRV012 Grover's Disease 33 0.035
537
c OVR114 Ovarian Cancer 1 54 0.035
538
P HST010 Histiocytosis 60 0.035
539
P PRC019 Precocious Puberty 52 0.035
540
P END047 Endophthalmitis 51 0.034
541
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 46 0.034
542
P VNT002 Ventricular Septal Defect 59 0.034
543
c MCR256 Microphthalmia, Syndromic 9 48 0.034
544
VGN031 Vaginal Atresia 20 0.034
545
PRV004 Periventricular Leukomalacia 53 0.034
546
LKM006 Leukomalacia 46 0.034
547
RTR008 Root Resorption 44 0.034
548
P TRC005 Tracheal Stenosis 39 0.034
549
P MNN007 Meningocele 38 0.034
550
NVS015 Nevus Comedonicus 36 0.034
551
P OVR049 Ovarian Disease 58 0.034
552
CRP001 Carpal Tunnel Syndrome 64 0.034
553
P PLY011 Polycystic Ovary Syndrome 65 0.034
554
P SYR003 Syringoma 41 0.034
555
ADR005 Adrenal Carcinoma 59 0.033
556
c EXD008 Exudative Vitreoretinopathy 1 65 0.033
557
TTH006 Tooth Disease 54 0.033
558
MTR010 Mature Teratoma 46 0.033
559
P SRT002 Sertoli Cell Tumor 32 0.033
560
P ORF001 Orofaciodigital Syndrome 46 0.033
561
c MLT160 Multiple Endocrine Neoplasia, Type Iia 65 0.033
562
FLL008 Folliculitis 50 0.033
563
ABS007 Absent Patella 14 0.033
564
ATR053 Atresia of Urethra 13 0.033
565
SQM013 Squamous Cell Carcinoma, Head and Neck 79 0.033
566
BRN014 Bronchopneumonia 45 0.033
567
MLR003 Melorheostosis 43 0.033
568
JJN004 Jejunal Atresia 33 0.033
569
P LRY044 Larynx Cancer 57 0.033
570
BSC001 Buschke-Ollendorff Syndrome 48 0.033
571
URT037 Urethral Stricture 35 0.033
572
LPD012 Lipoid Congenital Adrenal Hyperplasia 66 0.032
573
P KRT005 Keratoacanthoma 49 0.032
574
ABL002 Ablepharon-Macrostomia Syndrome 55 0.032
575
SWT003 Sweat Gland Disease 42 0.032
576
LYM017 Lyme Disease 68 0.032
577
HSH003 Hashimoto Thyroiditis 67 0.031
578
P FBR017 Fibrosarcoma 61 0.031
579
CRY003 Cryptosporidiosis 51 0.031
580
SPN035 Spindle Cell Sarcoma 46 0.031
581
TLN003 Telangiectasis 52 0.031
582
HRM002 Hermaphroditism 42 0.031
583
TST015 Testicular Disease 43 0.031
584
c SCN006 Secondary Syphilis 40 0.031
585
OVR109 Ovarian Germ Cell Teratoma 35 0.031
586
BRL010 Buruli Ulcer 51 0.031
587
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 52 0.031
588
P PLM064 Pulmonary Sequestration 25 0.031
589
ACR008 Acrocallosal Syndrome 56 0.031
590
P INF049 Infantile Myofibromatosis 49 0.031
591
SWL001 Swallowing Disorders 36 0.031
592
MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 24 0.031
593
ACR017 Acrofacial Dysostosis 24 0.031
594
P PRD006 Prader-Willi Syndrome 66 0.031
595
P HMP002 Hemophagocytic Lymphohistiocytosis 67 0.030
596
P AXN002 Axenfeld-Rieger Syndrome 53 0.030
597
P OLV001 Olivopontocerebellar Atrophy 51 0.030
598
PYL006 Pyloric Stenosis 47 0.030
599
FRY002 Fryns Syndrome 43 0.030
600
PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 29 0.030
601
LMB013 Limb Reduction Defect 16 0.030
602
MYF001 Myofibroma 42 0.030
603
ANN002 Anencephaly 57 0.030
604
P HRD008 Hereditary Hemorrhagic Telangiectasia 72 0.029
605
LNG108 Langerhans Cell Histiocytosis 63 0.029
606
P PRN026 Porencephaly 50 0.029
607
CTN014 Cutaneous Mastocytosis 50 0.029
608
PNT005 Pentalogy of Cantrell 32 0.029
609
PSD009 Pseudohermaphroditism 42 0.029
610
KWS002 Kawasaki Disease 72 0.029
611
P ATS364 Autism 70 0.029
612
P DYS007 Dyskeratosis Congenita 68 0.029
613
CRC006 Carcinoid Syndrome 59 0.029
614
P EMB005 Embryonal Rhabdomyosarcoma 54 0.029
615
c MLG074 Malignant Mesenchymoma 51 0.029
616
RGH009 Right Atrial Isomerism 48 0.029
617
PRS037 Periostitis 33 0.029
618
DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 28 0.029
619
RFR003 Refractive Error 45 0.029
620
APR006 Apert Syndrome 69 0.029
621
BRN038 Bronchial Disease 58 0.029
622
DDN011 Duodenal Atresia 39 0.029
623
LCR013 Lacrimal Duct Defect 31 0.029
624
NRV006 Nervous System Cancer 61 0.028
625
P AGG001 Aggressive Periodontitis 55 0.028
626
P ATR010 Atrial Heart Septal Defect 45 0.028
627
ANR018 Anorchia 40 0.028
628
ODN006 Odontoma 35 0.028
629
P SLP003 Salpingitis 32 0.028
630
AMN001 Amenorrhea 55 0.028
631
P OTT001 Otitis Externa 51 0.028
632
HND002 Hand, Foot and Mouth Disease 50 0.028
633
NNT010 Nontoxic Goiter 37 0.028
634
GST033 Gestational Diabetes 62 0.028
635
INT004 Intraneural Perineurioma 36 0.028
636
P HRS035 Hirschsprung Disease 1 64 0.027
637
DRY001 Dry Eye Syndrome 51 0.027
638
TRC097 Tracheomalacia 32 0.027
639
c CNG133 Congenital Varicella Syndrome 29 0.027
640
CNG097 Congenital Giant Megaureter 10 0.027
641
P THY023 Thymoma 65 0.027
642
MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 48 0.027
643
CHN010 Chondroma 44 0.027
644
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.026
645
MLG077 Malignant Peripheral Nerve Sheath Tumor 59 0.026
646
c BRS049 Breast Carcinoma in Situ 55 0.026
647
BLR006 Biliary Tract Disease 55 0.026
648
GST027 Gastric Lymphoma 53 0.026
649
MLN007 Male Infertility 53 0.026
650
EPT012 Epithelioid Sarcoma 47 0.026
651
GLC096 Galactorrhea 44 0.026
652
P PLL002 Pellagra 44 0.026
653
CHR034 Chromophobe Adenoma 43 0.026
654
SPP011 Suppression of Tumorigenicity 12 41 0.026
655
PRN022 Perineurioma 38 0.026
656
PPL059 Popliteal Pterygium Syndrome, Lethal Type 37 0.026
657
GLL018 Gallbladder Cancer 67 0.026
658
ERY017 Erythema Elevatum Diutinum 54 0.026
659
HYP691 Hypomelanosis of Ito 49 0.026
660
c CNG124 Congenital Rubella 47 0.026
661
OPT007 Optic Nerve Glioma 45 0.026
662
c 46X001 46 Xy Gonadal Dysgenesis 45 0.026
663
GLC098 Glaucoma-Related Pigment Dispersion Syndrome 40 0.026
664
STF002 Stiff Skin Syndrome 53 0.025
665
P GRW001 Growth Hormone Secreting Pituitary Adenoma 43 0.025
666
CNV002 Conversion Disorder 42 0.025
667
P ORF002 Orofacial Cleft 41 0.025
668
EPG003 Epiglottitis 35 0.025
669
PNS014 Penis Agenesis 29 0.025
670
MSC157 Muscular Dystrophy, Duchenne Type 74 0.024
671
CHK001 Chikungunya 61 0.024
672
c ALP101 Alpha-Thalassemia 60 0.024
673
P EPD009 Epidermolysis Bullosa Dystrophica 59 0.024
674
P SLV001 Silver-Russell Syndrome 57 0.024
675
P MGL001 Megaloblastic Anemia 52 0.024
676
MDL002 Medulloepithelioma 46 0.024
677
STT002 Status Asthmaticus 46 0.024
678
c CHR086 Chronic Conjunctivitis 44 0.024
679
OCL025 Ocular Toxoplasmosis 43 0.024
680
c TRS012 Trisomy 22 26 0.024
681
CNT061 Conotruncal Heart Malformations 70 0.022
682
PND002 Pendred Syndrome 55 0.022
683
FND001 Fundus Albipunctatus 54 0.022
684
BLR007 Biliary Tract Neoplasm 53 0.022
685
THR016 Thrombophlebitis 53 0.022
686
HMR002 Hemarthrosis 51 0.022
687
P RBN002 Robinow Syndrome 48 0.022
688
P EPN001 Ependymoblastoma 46 0.022
689
MYT011 Myotonia 41 0.022
690
c CRN278 Craniosynostosis 1 41 0.022
691
c DNR003 Duane Retraction Syndrome 1 34 0.022
692
c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 26 0.022
693
c PRX065 Peroxisome Biogenesis Disorder 3a 25 0.022
694
HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 24 0.022
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