Search results for macular dystrophy

1093 hits were found for macular dystrophy

# Family MCID Name MIFTS Score
1
MCL002 Macular Corneal Dystrophy 47 7.417
2
c MCL066 Macular Dystrophy, Vitelliform, 2 38 6.419
3
BST007 Best Vitelliform Macular Dystrophy 37 5.721
4
c MCL060 Macular Dystrophy, Vitelliform, 3 40 5.321
5
P VTL001 Vitelliform Macular Dystrophy 38 4.874
6
MCL072 Macular Dystrophy, North Carolina Type 30 4.746
7
OCC002 Occult Macular Dystrophy 39 4.572
8
MCL027 Macular Dystrophy, Dominant Cystoid 39 4.454
9
HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 35 4.249
10
P PTT054 Patterned Macular Dystrophy 22 4.063
11
c MCL071 Macular Dystrophy, Patterned, 2 23 3.995
12
SRS007 Sorsby Fundus Dystrophy 49 3.993
13
ECT046 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 28 3.896
14
P MCL035 Macular Dystrophy, Retinal, 2 27 3.719
15
c STR040 Stargardt Disease 3 26 3.623
16
c MCL059 Macular Dystrophy, Patterned, 1 27 3.513
17
c MCL061 Macular Dystrophy, Vitelliform, 4 22 3.317
18
MCL017 Macular Dystrophy, Atypical Vitelliform 8 3.288
19
BLL017 Bullous Dystrophy, Hereditary Macular Type 19 3.019
20
JVN017 Juvenile Macular Degeneration and Hypotrichosis 9 3.002
21
c MCL056 Macular Dystrophy, Vitelliform, 5 22 2.980
22
c MCL070 Macular Dystrophy, Patterned, 3 26 2.956
23
CNR014 Cone-Rod Dystrophy 16 30 2.948
24
MCL057 Macular Dystrophy with Central Cone Involvement 19 2.928
25
c STR084 Stargardt Disease 1 52 2.782
26
MCL018 Macular Dystrophy, Concentric Annular 21 2.568
27
c MCL026 Macular Dystrophy, Retinal, 3 20 2.489
28
OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 20 2.393
29
STR046 Stargardt Macular Degeneration 27 2.286
30
CHR449 Choroidal Dystrophy, Central Areolar 2 19 2.243
31
CNR032 Cone-Rod Dystrophy 21 20 2.151
32
RTN197 Retinal Dystrophy with Macular Staphyloma 12 2.090
33
MSL002 Mousa Al Din Al Nassar Syndrome 8 2.082
34
P STR022 Stargardt Disease 56 2.052
35
BTT011 Butterfly-Shaped Pigment Dystrophy 23 1.905
36
c STR042 Stargardt Disease, Autosomal Recessive 18 1.864
37
c ABC008 Abca4-Related Stargardt Disease 1 10 1.825
38
c CNG137 Cngb3-Related Stargardt Disease 1 7 1.825
39
SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 17 1.720
40
c PRP044 Prph2-Related Adult-Onset Vitelliform Macular Dystrophy 6 1.478
41
P MSC005 Muscular Dystrophy 65 0.600
42
RTN023 Retinitis 49 0.588
43
EYD002 Eye Disease 57 0.469
44
RTN018 Retinal Disease 51 0.453
45
P RTN016 Retinal Degeneration 53 0.437
46
DBT006 Diabetic Macular Edema 46 0.432
47
CRN025 Corneal Dystrophy 41 0.403
48
MCL003 Macular Holes 41 0.392
49
P MYT002 Myotonic Dystrophy 48 0.352
50
c MCL042 Macular Degeneration, Age-Related, 1 72 0.303
51
MCL006 Macular Retinal Edema 42 0.300
52
END072 Endotheliitis 41 0.298
53
EYD001 Eye Degenerative Disease 32 0.292
54
CHR008 Choroiditis 43 0.281
55
c MCL043 Macular Degeneration, Age-Related, 2 31 0.272
56
P CTR002 Cataract 57 0.243
57
P LMB006 Limb-Girdle Muscular Dystrophy 50 0.229
58
c MCL038 Macular Degeneration, Age-Related, 4 26 0.227
59
P RTN008 Retinitis Pigmentosa 80 0.210
60
CNR002 Cone-Rod Dystrophy 63 0.200
61
RTN017 Retinal Detachment 54 0.200
62
P MYP004 Myopathy 68 0.194
63
c MCL051 Macular Degeneration, Age-Related, 12 24 0.189
64
c MCL036 Macular Degeneration, Age-Related, 6 26 0.188
65
RTN020 Retinal Vascular Disease 47 0.181
66
P AMY004 Amyloidosis 64 0.167
67
UVL003 Uveal Diseases 20 0.156
68
CND005 Cone Dystrophy 38 0.156
69
c MCL065 Macular Degeneration, Age-Related, 15 22 0.154
70
P RTN025 Retinoschisis 57 0.150
71
P UVT001 Uveitis 57 0.147
72
VND001 Vein Disease 49 0.147
73
P MYP006 Myopia 59 0.141
74
FND002 Fundus Dystrophy 39 0.140
75
THR024 Thrombosis 43 0.139
76
HPT074 Hepatic Adenoma, Somatic 44 0.138
77
c MCL064 Macular Degeneration, Age-Related 5 25 0.136
78
P NRP001 Neuropathy 57 0.135
79
CHR079 Choroid Disease 35 0.132
80
PGM003 Pigmentation Disease 39 0.130
81
ALR002 Al-Raqad Syndrome 29 0.128
82
HNM002 Hinman Syndrome 27 0.128
83
MCL047 Macular Amyloidosis 22 0.127
84
HRD016 Hereditary Retinal Dystrophy 35 0.120
85
CTS003 Coats Disease 58 0.118
86
P NRV007 Nervous System Disease 70 0.114
87
AND005 Androgen Insensitivity Syndrome, Mild 16 0.114
88
CLB001 Coloboma 54 0.113
89
P HYP087 Hypotrichosis 45 0.110
90
PRP026 Peripheral Retinal Degeneration 34 0.109
91
P ATX004 Ataxia 52 0.106
92
c MCL044 Macular Degeneration, Age-Related, 9 21 0.105
93
BRT030 Birth Defects 44 0.104
94
P KRT007 Keratoconus 48 0.103
95
ISC004 Ischemia 59 0.101
96
VSC007 Vascular Disease 65 0.101
97
P HYP729 Hypersensitivity Reaction Disease 43 0.098
98
CNT060 Central Serous Chorioretinopathy 42 0.096
99
MSM001 Meesmann Corneal Dystrophy 45 0.096
100
SCT002 Scotoma 38 0.095
101
FCS012 Facioscapulohumeral Muscular Dystrophy 1 50 0.094
102
TLN003 Telangiectasis 50 0.090
103
LNS003 Lens Disease 35 0.089
104
P INF032 Infertility 57 0.088
105
RDN001 Reading Disorder 36 0.086
106
RTN021 Retinal Vascular Occlusion 45 0.085
107
c LBR014 Leber Congenital Amaurosis 4 44 0.085
108
CRN024 Corneal Disease 43 0.084
109
P FND001 Fundus Albipunctatus 55 0.083
110
CMP010 Complex Regional Pain Syndrome 53 0.082
111
CHR078 Chorioretinitis 37 0.081
112
PHY002 Physical Disorder 43 0.081
113
EPD016 Epidermolysis Bullosa 55 0.080
114
P ART022 Arthritis 72 0.079
115
PPL023 Pupil Disease 24 0.078
116
NWC001 Newcastle Disease 51 0.077
117
CRB009 Cerebritis 39 0.077
118
ETH011 Ethylmalonic Encephalopathy 51 0.077
119
P PRM016 Primary Optic Atrophy 31 0.076
120
NRN002 Neuronitis 39 0.076
121
P EPL164 Epilepsy 65 0.075
122
CNR031 Cone-Rod Dystrophy, X-Linked, 1 28 0.074
123
AMB002 Amblyopia 44 0.074
124
CNV002 Conversion Disorder 40 0.074
125
CNR007 Cone-Rod Dystrophy 6 47 0.074
126
P ALP004 Alport Syndrome 70 0.073
127
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 35 0.072
128
ENH001 Enhanced S-Cone Syndrome 46 0.072
129
P TRC086 Trichohepatoenteric Syndrome 1 51 0.071
130
TTR016 Tetra-Amelia Syndrome 38 0.071
131
c STR054 Stargardt Disease 4 23 0.071
132
ADP007 Adie Pupil 35 0.070
133
P CRN026 Corneal Edema 39 0.070
134
STR086 Stromal Dystrophy 27 0.070
135
MVM001 Movement Disease 52 0.070
136
RFR003 Refractive Error 41 0.068
137
PRR004 Preretinal Fibrosis 33 0.068
138
BRN106 Burns 52 0.068
139
ALP008 Alopecia 54 0.068
140
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.067
141
CND018 Cone Dystrophy-3 25 0.067
142
RTN084 Retinal Cone Dystrophy 3 29 0.066
143
CNR005 Cone-Rod Dystrophy 3 35 0.066
144
CNR012 Cone-Rod Dystrophy 11 23 0.066
145
RTN035 Retinal Cone Dystrophy 3b 26 0.065
146
P SPS003 Spastic Diplegia 52 0.064
147
OCL011 Ocular Motility Disease 38 0.064
148
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 28 0.064
149
P LBR001 Leber Congenital Amaurosis 62 0.064
150
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 39 0.064
151
CNR006 Cone-Rod Dystrophy 5 27 0.063
152
BLD054 Blood Protein Disease 39 0.062
153
P FNC043 Fanconi Anemia, Complementation Group E 51 0.062
154
P ATX010 Ataxia Neuropathy Spectrum 27 0.062
155
PCK002 Pick Disease 68 0.061
156
CHR081 Choroideremia 54 0.061
157
P IDP065 Idiopathic Macular Telangiectasia Type 1 11 0.061
158
P OBS005 Obesity 91 0.061
159
BTH002 Bothnia Retinal Dystrophy 22 0.061
160
P EXN002 Exanthem 57 0.061
161
KRT004 Keratitis 70 0.061
162
P CRB042 Cerebellar Ataxia 69 0.060
163
CNR038 Cone-Rod Dystrophy, X-Linked, 3 26 0.060
164
P XLN007 X-Linked Disease 34 0.060
165
CNR013 Cone-Rod Dystrophy 12 24 0.060
166
c INT064 Intermediate Uveitis 51 0.059
167
c ANT034 Anterior Uveitis 47 0.059
168
P ACR001 Aicardi-Goutieres Syndrome 56 0.059
169
KRT008 Keratopathy 39 0.059
170
RTN175 Retinitis Pigmentosa 7 and Digenic 40 0.059
171
SLP005 Sleep Disorder 54 0.059
172
OCL006 Ocular Hypertension 46 0.058
173
P RTN014 Retinal Artery Occlusion 42 0.058
174
THR100 Thrombocytopenic Purpura, Autoimmune 54 0.058
175
P MYS033 Miyoshi Muscular Dystrophy 1 42 0.058
176
P HPT021 Hepatitis 68 0.058
177
ECT006 Ectodermal Dysplasia 52 0.058
178
SPS057 Spasticity 42 0.058
179
NRT004 Neuritis 51 0.057
180
c OPT053 Optic Atrophy 1 46 0.057
181
GLC008 Glucose Metabolism Disease 44 0.057
182
CNR021 Cone-Rod Dystrophy 10 25 0.057
183
P MCR010 Microcephaly 58 0.057
184
MNK001 Menkes Disease 63 0.056
185
CND012 Cone Dystrophy 4 26 0.056
186
CNR025 Cone-Rod Dystrophy 15 27 0.056
187
BLC001 Blue Cone Monochromacy 41 0.056
188
P END047 Endophthalmitis 45 0.056
189
RTN019 Retinal Telangiectasia 28 0.056
190
MLN008 Melanoma 70 0.056
191
BRD025 Birdshot Chorioretinopathy 48 0.056
192
c PST005 Posterior Uveitis 45 0.056
193
CRN046 Corneal Fleck Dystrophy 37 0.056
194
BLL004 Bullous Keratopathy 43 0.055
195
PRP019 Peripheral Nervous System Disease 53 0.055
196
P SLP006 Sleep Apnea 60 0.055
197
CNR023 Cone-Rod Dystrophy 8 19 0.055
198
CNR017 Cone-Rod Dystrophy 9 24 0.054
199
c OPT059 Optic Atrophy 4 17 0.054
200
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 16 0.054
201
CNG034 Congestive Heart Failure 70 0.054
202
CNR024 Cone-Rod Dystrophy 13 23 0.054
203
CNR003 Cone-Rod Dystrophy 1 22 0.054
204
P ACH003 Achromatopsia 55 0.054
205
DBT084 Diabetes Mellitus, Ketosis-Prone 49 0.054
206
RCR001 Recurrent Corneal Erosion 35 0.053
207
PRT032 Partial Central Choroid Dystrophy 27 0.053
208
BNS002 Bone Structure Disease 36 0.053
209
CNR037 Cone-Rod Dystrophy and Hearing Loss 23 0.052
210
P ATR011 Atrial Fibrillation 65 0.052
211
P NGH001 Night Blindness 47 0.052
212
CNR016 Cone-Rod Dystrophy 7 26 0.052
213
CYT005 Cytomegalovirus Retinitis 47 0.052
214
ISC002 Ischemic Optic Neuropathy 44 0.052
215
CLD014 Cole Disease 40 0.052
216
VSC011 Vasculitis 62 0.052
217
NLL002 Null Syndrome 26 0.052
218
CHL123 Chlamydia 58 0.051
219
PPL021 Papilledema 47 0.051
220
PRS012 Pars Planitis 42 0.051
221
INC021 Incontinentia Pigmenti 48 0.051
222
JLL001 Jalili Syndrome 45 0.051
223
P DBT085 Diabetes Mellitus, Insulin-Dependent 79 0.050
224
OCL009 Ocular Cancer 58 0.050
225
c TRC078 Trichohepatoenteric Syndrome 2 34 0.050
226
P PLY019 Polyneuropathy 54 0.050
227
ATX038 Ataxia and Polyneuropathy, Adult-Onset 25 0.050
228
P USH001 Usher Syndrome 54 0.050
229
P PLY017 Polyarteritis Nodosa 51 0.050
230
P PNM007 Pneumonia 66 0.049
231
c RTN070 Retinitis Pigmentosa 9 35 0.049
232
CRB033 Cerebral Degeneration 44 0.049
233
BSL037 Basal Laminar Drusen 30 0.049
234
P CNG010 Congenital Stationary Night Blindness 53 0.049
235
c RTN162 Retinitis Pigmentosa 2 51 0.049
236
P PNV001 Panuveitis 48 0.048
237
SDD007 Sudden Cardiac Death 45 0.048
238
DYN001 Doyne Honeycomb Degeneration of Retina 35 0.048
239
CHR167 Chorioretinal Atrophy, Progressive Bifocal 19 0.047
240
CRN022 Corneal Degeneration 30 0.047
241
RTN191 Retinal Dystrophy with or Without Extraocular Anomalies 14 0.047
242
P HRT032 Heart Disease 75 0.047
243
UND005 Undifferentiated Pleomorphic Sarcoma 44 0.047
244
P LPS004 Lupus Erythematosus 63 0.047
245
P BLD051 Blood Coagulation Disease 43 0.047
246
PMS001 Poems Syndrome 51 0.047
247
HYP266 Hypoxia 55 0.046
248
c RTN041 Retinitis Pigmentosa 11 35 0.046
249
P LRY019 Laryngitis 53 0.046
250
IRD003 Iridocorneal Endothelial Syndrome 24 0.046
251
RTN032 Retinal Cone Dystrophy 1 16 0.046
252
P SJG002 Sjogren-Larsson Syndrome 51 0.046
253
INS024 Insulin-Like Growth Factor I 75 0.046
254
c BRD017 Bardet-Biedl Syndrome 5 41 0.046
255
IRS003 Iris Disease 32 0.046
256
P ICH004 Ichthyosis 53 0.045
257
P PTS002 Ptosis 52 0.045
258
RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 32 0.045
259
SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 18 0.045
260
CNR029 Cone-Rod Dystrophy 19 16 0.045
261
c PND001 Pain Disorder 55 0.045
262
c RTN058 Retinitis Pigmentosa 3 45 0.045
263
KRT002 Keratomalacia 49 0.044
264
RTN036 Retinal Cone Dystrophy 4 23 0.044
265
CNR030 Cone-Rod Dystrophy 20 22 0.044
266
CNR026 Cone-Rod Dystrophy 18 19 0.044
267
P UVL004 Uveal Melanoma 60 0.044
268
c SPN291 Spinocerebellar Ataxia 7 51 0.044
269
ATN002 Autonomic Nervous System Disease 48 0.044
270
c SYS001 Systemic Lupus Erythematosus 86 0.044
271
MTH009 Mouth Disease 62 0.044
272
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 52 0.044
273
ALB002 Albinism 45 0.044
274
c LBR019 Leber Congenital Amaurosis 9 40 0.044
275
c RTN172 Retinitis Pigmentosa 1 42 0.044
276
KRN002 Kearns-Sayre Syndrome 57 0.043
277
SCH025 Schisis Association 22 0.043
278
ATH003 Atherosclerosis 65 0.043
279
P ESP024 Esophagitis 59 0.043
280
SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 43 0.043
281
P OST005 Osteogenesis Imperfecta 68 0.043
282
P BRD002 Bardet-Biedl Syndrome 64 0.043
283
OBS061 Obstructive Sleep Apnea 65 0.042
284
SHW002 Shwachman-Diamond Syndrome 61 0.042
285
RSP006 Respiratory System Disease 60 0.042
286
ATS008 Autosomal Dominant Disease 40 0.042
287
ATS010 Autosomal Recessive Disease 39 0.042
288
P DYS007 Dyskeratosis Congenita 66 0.042
289
P PLY006 Polydactyly 54 0.042
290
SNS001 Sensorineural Hearing Loss 54 0.042
291
DMN002 Dementia 52 0.042
292
P VTR010 Vitreoretinochoroidopathy 33 0.042
293
P EXD001 Exudative Vitreoretinopathy 47 0.041
294
ADJ001 Adjustment Disorder 38 0.041
295
GNG013 Gingivitis 61 0.041
296
FTT001 Fatty Liver Disease 59 0.041
297
SKN027 Skin Conditions 44 0.041
298
P THY032 Thyroiditis 53 0.041
299
SKN023 Skin Tag 46 0.041
300
HMN009 Hemangioblastoma 45 0.041
301
P PRL003 Proliferative Glomerulonephritis 43 0.041
302
c RTN131 Retinitis Pigmentosa 27 36 0.041
303
c VTR009 Vitreoretinochoroidopathy Dominant 10 0.041
304
P RHM011 Rheumatoid Arthritis 87 0.041
305
c CHR579 Chiari Malformation Type Ii 40 0.041
306
HRD064 Hereditary Vascular Retinopathy 15 0.041
307
ATR057 Atrioventricular Block 49 0.040
308
P AST005 Asthma 81 0.040
309
CHL071 Child Syndrome 59 0.040
310
KDS001 Kid Syndrome 57 0.040
311
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 43 0.040
312
c RTN043 Retinitis Pigmentosa 13 42 0.040
313
P SPS008 Spastic Ataxia 33 0.040
314
STR026 Star Syndrome 59 0.040
315
MCR013 Microphthalmia 59 0.040
316
ALP001 Alopecia Universalis 57 0.040
317
OCL048 Oculoauricular Syndrome 31 0.040
318
P ANR002 Aniridia 66 0.038
319
DRM006 Dermatitis 63 0.038
320
CND002 Conduct Disorder 53 0.038
321
c HYP072 Hypersensitivity Reaction Type Iii Disease 39 0.038
322
c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 28 0.038
323
ACQ007 Acquired Immunodeficiency Syndrome 60 0.038
324
WTH001 Withdrawal Disorder 40 0.038
325
P ANT006 Antiphospholipid Syndrome 54 0.038
326
PST095 Post-Thrombotic Syndrome 48 0.038
327
SPN348 Spondylometaphyseal Dysplasia, Axial 22 0.038
328
P KDN018 Kidney Disease 65 0.038
329
BRC012 Brucellosis 61 0.038
330
ADL030 Adult-Onset Still's Disease 60 0.038
331
CNT047 Contact Dermatitis 59 0.038
332
PRC013 Pericarditis 50 0.038
333
MGL001 Megaloblastic Anemia 49 0.038
334
c ATS308 Autosomal Dominant Cerebellar Ataxia 46 0.038
335
c MTR002 Mitral Valve Insufficiency 45 0.038
336
PLP001 Pulpitis 44 0.038
337
c RTN142 Retinitis Pigmentosa 38 39 0.038
338
DBT090 Diabetes and Deafness, Maternally Inherited 35 0.038
339
P BST001 Bestrophinopathy 26 0.038
340
SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 23 0.038
341
FBR012 Fabry Disease 71 0.036
342
SKN016 Skin Disease 64 0.036
343
SPN186 Spinal Cord Injury 62 0.036
344
CHN016 Cohen Syndrome 54 0.036
345
RST001 Restless Legs Syndrome 52 0.036
346
CNR015 Cone-Rod Dystrophy 4 13 0.036
347
MLT021 Multiple System Atrophy 70 0.036
348
P MNN013 Meningitis 65 0.036
349
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 63 0.036
350
PRP030 Purpura 57 0.036
351
ANR040 Aneurysm 57 0.036
352
P VNS003 Venous Insufficiency 52 0.036
353
P CRV039 Cervicitis 45 0.036
354
RHY001 Rhyns Syndrome 40 0.036
355
c RTN059 Retinitis Pigmentosa 30 35 0.036
356
c RTN150 Retinitis Pigmentosa 10 35 0.036
357
c RTN067 Retinitis Pigmentosa 41 28 0.036
358
c RTN157 Retinitis Pigmentosa 37 26 0.036
359
KWS002 Kawasaki Disease 67 0.035
360
PLS006 Plasmodium Vivax Malaria 52 0.035
361
BCT002 Bacterial Vaginosis 51 0.035
362
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 50 0.035
363
HLL004 Hellp Syndrome 48 0.035
364
BLD053 Blood Platelet Disease 46 0.035
365
STP004 Staphylococcal Toxic Shock Syndrome 42 0.035
366
CRN031 Cranial Nerve Disease 41 0.035
367
NPH004 Nephropathia Epidemica 36 0.035
368
BLS001 Blau Syndrome 61 0.035
369
P TXP001 Toxoplasmosis 60 0.035
370
P HMN010 Hemangioma 59 0.035
371
P GLM007 Glomerulonephritis 55 0.035
372
CHK001 Chikungunya 53 0.035
373
P STR020 Strabismus 52 0.035
374
NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 52 0.035
375
CYT008 Cytomegalovirus Infection 51 0.035
376
MYC002 Mycobacterium Avium Complex Disease 51 0.035
377
c HYP071 Hypersensitivity Reaction Type Ii Disease 48 0.035
378
MMB001 Membranoproliferative Glomerulonephritis 46 0.035
379
c MCR122 Microphthalmia, Isolated 5 26 0.035
380
ANS002 Aniseikonia 20 0.035
381
P MLT019 Multiple Myeloma 82 0.034
382
P LNG028 Long Qt Syndrome 64 0.034
383
c BRD010 Bardet-Biedl Syndrome 1 55 0.034
384
P NPH005 Nephronophthisis 54 0.034
385
c BRD011 Bardet-Biedl Syndrome 10 48 0.034
386
AST006 Astigmatism 43 0.034
387
ATR060 Atrial Standstill, Digenic 43 0.034
388
c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 42 0.034
389
MYC033 Myoclonus 41 0.034
390
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 32 0.034
391
c LBR008 Leber Congenital Amaurosis 13 24 0.034
392
P NMN002 Niemann-Pick Disease 66 0.033
393
PRP027 Peripheral Vascular Disease 65 0.033
394
TNG002 Tangier Disease 62 0.033
395
P FML161 Familial Mediterranean Fever, Ar 61 0.033
396
P HYP086 Hypothyroidism 60 0.033
397
PRT036 Peritonitis 60 0.033
398
P INT068 Intestinal Disease 59 0.033
399
IMM136 Immune System Disease 53 0.033
400
HDC001 Headache 53 0.033
401
P PYL005 Pyelonephritis 52 0.033
402
PRC012 Pericardial Effusion 50 0.033
403
TBR011 Tuberculous Meningitis 46 0.033
404
CNT046 Central Nervous System Vasculitis 45 0.033
405
c AMY009 Amyloidosis Aa 45 0.033
406
CRY004 Cryoglobulinemia 45 0.033
407
P CLR019 Color Blindness 45 0.033
408
FSC004 Fasciitis 44 0.033
409
SYS003 Systolic Heart Failure 43 0.033
410
PLC001 Placenta Accreta 42 0.033
411
ANC002 Anca-Associated Vasculitis 42 0.033
412
EGG001 Egg Allergy 40 0.033
413
c LBR007 Leber Congenital Amaurosis 12 38 0.033
414
SNL007 Senile Cataract 37 0.033
415
MCP033 Mucopolysaccharidoses 33 0.033
416
c RTN171 Retinitis Pigmentosa 59 30 0.033
417
c RTN159 Retinitis Pigmentosa 45 27 0.033
418
c RTN106 Retinitis Pigmentosa 51 27 0.033
419
c RTN176 Retinitis Pigmentosa 71 25 0.033
420
c RTN117 Retinitis Pigmentosa 57 23 0.033
421
P CHR071 Charcot-Marie-Tooth Disease 67 0.032
422
CHR063 Chronic Mucocutaneous Candidiasis 61 0.032
423
PLM033 Pulmonary Embolism 59 0.032
424
GLC003 Glucose Intolerance 54 0.032
425
PTN001 Patent Foramen Ovale 54 0.032
426
P ENC018 Encephalopathy 52 0.032
427
THR016 Thrombophlebitis 52 0.032
428
c BRD013 Bardet-Biedl Syndrome 12 47 0.032
429
DWR001 Dwarfism 45 0.032
430
c BRD015 Bardet-Biedl Syndrome 3 44 0.032
431
RGH001 Right Bundle Branch Block 42 0.032
432
VGN023 Vaginitis 41 0.032
433
c BRD048 Bardet-Biedl Syndrome 18 41 0.032
434
P SPR013 Spiradenoma 35 0.032
435
c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 34 0.032
436
CRH001 Crohn's Disease 73 0.031
437
P HMC003 Hemochromatosis 72 0.031
438
CHD001 Chediak-Higashi Syndrome 65 0.031
439
P LPR003 Leprosy 63 0.031
440
LYM017 Lyme Disease 62 0.031
441
P SRC025 Sarcoidosis 1 61 0.031
442
TYP007 Typhoid Fever 61 0.031
443
MDD011 Mood Disorder 59 0.031
444
TXC005 Toxic Shock Syndrome 55 0.031
445
RLP002 Relapsing-Remitting Multiple Sclerosis 54 0.031
446
DMY004 Demyelinating Disease 53 0.031
447
c CNG021 Congenital Toxoplasmosis 52 0.031
448
CRT049 Critical Limb Ischemia 50 0.031
449
P PNM006 Pneumoconiosis 50 0.031
450
THY030 Thyroid Gland Disease 49 0.031
451
HYP037 Hyperhomocysteinemia 49 0.031
452
LPR001 Lepromatous Leprosy 49 0.031
453
P SCL015 Scleritis 46 0.031
454
ELS001 Eales Disease 46 0.031
455
CNC014 Cancer-Associated Retinopathy 33 0.031
456
ART110 Arteritic Anterior Ischemic Optic Neuropathy 30 0.031
457
VSL004 Visual Cortex Disease 28 0.031
458
GLD003 Goldmann-Favre Syndrome 22 0.031
459
c CTR157 Cataract 28 18 0.031
460
c IDP066 Idiopathic Macular Telangiectasia Type 3 7 0.031
461
P NRM001 Neuromyelitis Optica 61 0.031
462
c GLY008 Glycogen Storage Disease Ii 61 0.031
463
TKY002 Takayasu Arteritis 60 0.031
464
APP008 Appendicitis 59 0.031
465
ALC006 Alcoholic Hepatitis 58 0.031
466
WLL006 Wells Syndrome 58 0.031
467
GST045 Gastroenteritis 57 0.031
468
LPT001 Leptospirosis 57 0.031
469
HMR004 Hemorrhagic Fever with Renal Syndrome 56 0.031
470
SMT008 Smith-Magenis Syndrome 55 0.031
471
NRN004 Neuroendocrine Tumor 55 0.031
472
PLM010 Pulmonary Edema 52 0.031
473
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 51 0.031
474
CRH005 Crohn's Colitis 50 0.031
475
TRY001 Trypanosomiasis 50 0.031
476
SPT005 Spotted Fever 49 0.031
477
SYS034 Systemic Onset Juvenile Idiopathic Arthritis 48 0.031
478
BNN003 Bone Inflammation Disease 45 0.031
479
c HMG003 Hemoglobin E Disease 43 0.031
480
c PRM225 Primary Thrombocytopenia 42 0.031
481
P FNG006 Feingold Syndrome 1 40 0.031
482
DYS015 Dysentery 39 0.031
483
OCL025 Ocular Toxoplasmosis 39 0.031
484
PGM005 Pigment Dispersion Syndrome 39 0.031
485
URM005 Uremic Pruritus 38 0.031
486
ATM012 Autoimmune Disease of Blood 37 0.031
487
EXT035 Extrinsic Cardiomyopathy 37 0.031
488
FNS001 Funisitis 36 0.031
489
PYL004 Pyelitis 35 0.031
490
DFF015 Diffuse Glomerulonephritis 34 0.031
491
BGS001 Bagassosis 34 0.031
492
HYP084 Hypopyon 31 0.031
493
ADR023 Adrenomyodystrophy 26 0.031
494
KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 23 0.031
495
c SNR016 Senior-Loken Syndrome 9 22 0.031
496
VSC009 Vascular Skin Disease 20 0.031
497
c HML047 Heimler Syndrome 1 18 0.031
498
c RTN192 Retinitis Pigmentosa 77 17 0.031
499
P RNL014 Renal Cell Carcinoma 80 0.030
500
P ALZ034 Alzheimer Disease 76 0.030
501
ACH004 Achondroplasia 66 0.030
502
c BSL007 Basal Cell Carcinoma 64 0.030
503
P PSR002 Psoriasis 64 0.030
504
P NRN021 Neuronal Ceroid Lipofuscinosis 61 0.030
505
P BRG001 Brugada Syndrome 59 0.030
506
P TMT001 Timothy Syndrome 58 0.030
507
P DST002 Distal Arthrogryposis 57 0.030
508
P ANG015 Angioedema 52 0.030
509
P PLY014 Polycystic Kidney Disease 52 0.030
510
RTC002 Reticular Dysgenesis 51 0.030
511
TTH006 Tooth Disease 51 0.030
512
c THR092 Thrombophilia Due to Thrombin Defect 50 0.030
513
c BRD014 Bardet-Biedl Syndrome 2 50 0.030
514
ANG054 Angina Pectoris 49 0.030
515
c BRD044 Bardet-Biedl Syndrome 17 45 0.030
516
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 45 0.030
517
SYN036 Syncope 44 0.030
518
c BRD016 Bardet-Biedl Syndrome 4 44 0.030
519
P RST011 Restrictive Dermopathy, Lethal 44 0.030
520
c HRD026 Hereditary Ataxia 42 0.030
521
c BRD018 Bardet-Biedl Syndrome 6 41 0.030
522
c RTN136 Retinitis Pigmentosa 44 38 0.030
523
ATS009 Autosomal Genetic Disease 38 0.030
524
ADR038 Adermatoglyphia 37 0.030
525
c BLD124 Bleeding Disorder, Platelet-Type, 11 36 0.030
526
SPN050 Spinocerebellar Degeneration 35 0.030
527
c RTN116 Retinitis Pigmentosa 56 33 0.030
528
PNC032 Pancoast Tumor 32 0.030
529
P ATR081 Atrial Standstill 30 0.030
530
PRT101 Poretti-Boltshauser Syndrome 23 0.030
531
c BRD050 Bardet-Biedl Syndrome 21 22 0.030
532
STR067 Stroke, Ischemic 72 0.028
533
P TBR001 Tuberous Sclerosis 67 0.028
534
c LNG044 Long Qt Syndrome 1 62 0.028
535
c SPN225 Spondyloarthropathy 1 61 0.028
536
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 61 0.028
537
P SDD001 Sudden Infant Death Syndrome 60 0.028
538
c LNG047 Long Qt Syndrome 2 59 0.028
539
P SPN052 Spondyloarthropathy 59 0.028
540
P AND016 Andersen Syndrome 59 0.028
541
INT146 Intervertebral Disc Disease 59 0.028
542
JNT002 Joint Disorders 55 0.028
543
P HMR003 Hemorrhagic Disease 55 0.028
544
MCK005 Mckusick-Kaufman Syndrome 55 0.028
545
ALL010 Allergic Contact Dermatitis 54 0.028
546
BRG013 Buerger Disease 54 0.028
547
c FML001 Familial Atrial Fibrillation 54 0.028
548
P JRV003 Jervell and Lange-Nielsen Syndrome 54 0.028
549
c VNT013 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 53 0.028
550
P END033 Endocarditis 53 0.028
551
P FTL009 Fetal Akinesia Deformation Sequence 53 0.028
552
c LNG050 Long Qt Syndrome 5 52 0.028
553
c THR082 Thrombophilia Due to Activated Protein C Resistance 51 0.028
554
c LNG051 Long Qt Syndrome 6 50 0.028
555
RDC002 Radiculopathy 50 0.028
556
DNN001 Danon Disease 48 0.028
557
RGH009 Right Atrial Isomerism 48 0.028
558
PLR008 Pleurisy 47 0.028
559
PRT018 Portal Vein Thrombosis 47 0.028
560
OLV001 Olivopontocerebellar Atrophy 47 0.028
561
c RTN160 Retinitis Pigmentosa 60 46 0.028
562
CRN027 Corneal Neovascularization 46 0.028
563
c LNG092 Long Qt Syndrome-3 46 0.028
564
c SHR030 Short Qt Syndrome 45 0.028
565
c LNG057 Long Qt Syndrome 13 45 0.028
566
c LNG053 Long Qt Syndrome 9 44 0.028
567
c LNG056 Long Qt Syndrome 12 44 0.028
568
c FML191 Familial Long Qt Syndrome 44 0.028
569
FSH001 Fish-Eye Disease 43 0.028
570
OCL001 Ocular Albinism 43 0.028
571
c BRD033 Bardet-Biedl Syndrome 13 42 0.028
572
c BRD020 Bardet-Biedl Syndrome 8 42 0.028
573
c RTN055 Retinitis Pigmentosa 26 42 0.028
574
FCT008 Factitious Disorder 41 0.028
575
HRT008 Heart Conduction Disease 41 0.028
576
PRC003 Proctitis 40 0.028
577
c BRD032 Bardet-Biedl Syndrome 14 40 0.028
578
c RTN048 Retinitis Pigmentosa 19 39 0.028
579
c HRD088 Hereditary Neuropathies 39 0.028
580
P CRB088 Cerebral Atrophy 39 0.028
581
SPN369 Spinal Disease 38 0.028
582
c RTN177 Retinitis Pigmentosa 73 38 0.028
583
MNN021 Meningococcemia 38 0.028
584
VNT011 Ventricular Fibrillation, Familial, 1 37 0.028
585
CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 37 0.028
586
c RTN149 Retinitis Pigmentosa 42 36 0.028
587
INT084 Intrinsic Cardiomyopathy 35 0.028
588
c RTN054 Retinitis Pigmentosa 25 35 0.028
589
c RTN090 Retinitis Pigmentosa 55 35 0.028
590
c RTN044 Retinitis Pigmentosa 14 34 0.028
591
EPL131 Epilepsy, Pyridoxine-Dependent 34 0.028
592
c FML294 Familial Short Qt Syndrome 31 0.028
593
TRS001 Tarsal Tunnel Syndrome 30 0.028
594
c RTN096 Retinitis Pigmentosa-12, Autosomal Recessive 30 0.028
595
c ATS307 Autosomal Recessive Cerebellar Ataxia 29 0.028
596
c RTN065 Retinitis Pigmentosa 36 28 0.028
597
c NNS043 Nonsyndromic Retinitis Pigmentosa 27 0.028
598
c PRM015 Primary Cerebellar Degeneration 26 0.028
599
c RTN169 Retinitis Pigmentosa 70 25 0.028
600
HRD019 Hereditary Choroidal Atrophy 25 0.028
601
CNT067 Central Cord Syndrome 22 0.028
602
P APL001 Aplastic Anemia 74 0.027
603
WRN001 Werner Syndrome 68 0.027
604
KPS004 Kaposi Sarcoma 67 0.027
605
CHG001 Chagas Disease 66 0.027
606
LSH001 Leishmaniasis 66 0.027
607
OTT002 Otitis Media 65 0.027
608
MLD001 Melioidosis 65 0.027
609
c CHR089 Chronic Kidney Failure 65 0.027
610
EWN003 Ewing Sarcoma 64 0.027
611
P INF037 Inflammatory Bowel Disease 62 0.027
612
CNN005 Connective Tissue Disease 61 0.027
613
LPP001 Lipoprotein Lipase Deficiency 59 0.027
614
KRT001 Keratoconjunctivitis Sicca 59 0.027
615
OST017 Osteomyelitis 58 0.027
616
APH001 Aphthous Stomatitis 58 0.027
617
MRB003 Morbid Obesity 58 0.027
618
ART021 Arteriosclerosis 57 0.027
619
ADL002 Adult Syndrome 57 0.027
620
LPD008 Lipid Metabolism Disorder 57 0.027
621
LYM021 Lymphadenitis 57 0.027
622
P PLY018 Polycythemia 56 0.027
623
P HYP724 Hyperlipoproteinemia, Type Iii 56 0.027
624
TNS005 Tonsillitis 56 0.027
625
IMM111 Immunodeficiency, X-Linked, with Hyper-Igm 55 0.027
626
c RHM021 Rheumatoid Arthritis, Systemic Juvenile 55 0.027
627
PRS047 Prostatitis 55 0.027
628
P MNC007 Monocytic Leukemia 54 0.027
629
RSC001 Rosacea 53 0.027
630
EXT034 Extrinsic Allergic Alveolitis 52 0.027
631
P BRN009 Burning Mouth Syndrome 52 0.027
632
BRN002 Bronchiolitis 52 0.027
633
c VRL007 Viral Encephalitis 51 0.027
634
OPT037 Optic Nerve Hypoplasia 51 0.027
635
MCN007 Meconium Aspiration Syndrome 51 0.027
636
P SYP003 Syphilis 51 0.027
637
ASP003 Aseptic Meningitis 50 0.027
638
ERY017 Erythema Elevatum Diutinum 49 0.027
639
c VRL012 Viral Meningitis 49 0.027
640
PNC001 Pancytopenia 49 0.027
641
P AGG001 Aggressive Periodontitis 49 0.027
642
P HML001 Hemolytic-Uremic Syndrome 49 0.027
643
CRN030 Coronary Stenosis 49 0.027
644
PRT038 Protein-Energy Malnutrition 48 0.027
645
CHR005 Chorioamnionitis 47 0.027
646
IDP064 Idiopathic Neutropenia 46 0.027
647
NRM004 Neuroma 46 0.027
648
MCR191 Microscopic Colitis 46 0.027
649
c ACT068 Acute Cystitis 45 0.027
650
PRN019 Perinatal Necrotizing Enterocolitis 45 0.027
651
c INH020 Inherited Metabolic Disorder 45 0.027
652
CVR006 Cavernous Hemangioma 45 0.027
653
NVS001 Neovascular Glaucoma 44 0.027
654
P SDR002 Siderosis 44 0.027
655
P CRN028 Corneal Ulcer 44 0.027
656
ART008 Arteriosclerosis Obliterans 42 0.027
657
MSN001 Mesangial Proliferative Glomerulonephritis 41 0.027
658
TST018 Testicular Yolk Sac Tumor 41 0.027
659
c SCN006 Secondary Syphilis 39 0.027
660
STR077 Streptococcal Toxic-Shock Syndrome 39 0.027
661
DNT008 Denture Stomatitis 38 0.027
662
ORF044 Orofacial Granulomatosis 37 0.027
663
STC004 Stachybotrys Chartarum 36 0.027
664
PLS010 Plasma Protein Metabolism Disease 35 0.027
665
MCR001 Microcystic Meningioma 33 0.027
666
CRV022 Cervix Small Cell Carcinoma 32 0.027
667
c ACT079 Acute Proliferative Glomerulonephritis 32 0.027
668
THY003 Thymic Dysplasia 31 0.027
669
c HRD015 Hereditary Night Blindness 28 0.027
670
HYP067 Hyperimmunoglobulin Syndrome 28 0.027
671
PNC059 Punctate Inner Choroidopathy 28 0.027
672
c RTN190 Retinitis Pigmentosa 76 20 0.027
673
c PTR011 Paternal Uniparental Disomy of Chromosome 1 15 0.027
674
P WSK001 Wiskott-Aldrich Syndrome 74 0.025
675
c HRD010 Hereditary Spastic Paraplegia 66 0.025
676
c MCP037 Mucopolysaccharidosis is 65 0.025
677
P CNJ013 Conjunctivitis 63 0.025
678
MCK007 Muckle-Wells Syndrome 63 0.025
679
c HPT001 Hepatitis C 62 0.025
680
P ART023 Arthropathy 62 0.025
681
NRL005 Neurilemmoma 61 0.025
682
P ENC004 Encephalitis 61 0.025
683
P CNT061 Conotruncal Heart Malformations 61 0.025
684
P TMP003 Temporal Arteritis 61 0.025
685
SCR008 Scrub Typhus 59 0.025
686
LGN002 Legionellosis 59 0.025
687
P HYP055 Hypoplastic Left Heart Syndrome 56 0.025
688
GLS001 Gliosarcoma 55 0.025
689
INT002 Intermittent Claudication 55 0.025
690
IDP011 Idiopathic Interstitial Pneumonia 55 0.025
691
P HYD011 Hydrolethalus Syndrome 53 0.025
692
P EPN002 Ependymoma 53 0.025
693
TTH002 Tooth Agenesis 52 0.025
694
THR004 Thrombocytosis 52 0.025
695
P CYS018 Cystitis 52 0.025
696
P DRM007 Dermatitis Herpetiformis 52 0.025
697
P DBT005 Diabetes Insipidus 52 0.025
698
TRM010 Traumatic Brain Injury 51 0.025
699
LST001 Listeriosis 50 0.025
700
PYD001 Pyoderma Gangrenosum 50 0.025
701
NSD001 Nose Disease 49 0.025
702
HYP074 Hypersensitivity Vasculitis 48 0.025
703
P JNC001 Junctional Epidermolysis Bullosa 48 0.025
704
PRP016 Paraplegia 48 0.025
705
YLL001 Yellow Nail Syndrome 48 0.025
706
c BRD012 Bardet-Biedl Syndrome 11 48 0.025
707
HNT002 Hantavirus Pulmonary Syndrome 47 0.025
708
CRN017 Coronary Thrombosis 47 0.025
709
CHR001 Churg-Strauss Syndrome 47 0.025
710
STR072 Stromal Keratitis 47 0.025
711
HYP063 Hypersplenism 47 0.025
712
c EPL169 Epileptic Encephalopathy, Early Infantile, 36 46 0.025
713
SBP001 Subependymal Giant Cell Astrocytoma 46 0.025
714
c ALP073 Alport Syndrome, Autosomal Recessive 45 0.025
715
c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 45 0.025
716
P EPT020 Epithelioid Hemangioendothelioma 45 0.025
717
MLT113 Multicentric Castleman Disease 45 0.025
718
HNC001 Henoch-Schoenlein Purpura 44 0.025
719
BCT004 Bacteriuria 44 0.025
720
P PLM085 Pulmonary Hemosiderosis 44 0.025
721
ANX004 Anoxia 44 0.025
722
RLP003 Relapsing Fever 44 0.025
723
P RPD001 Rapidly Progressive Glomerulonephritis 44 0.025
724
LMR001 Lemierre's Syndrome 43 0.025
725
GYR003 Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia 43 0.025
726
MDL002 Medulloepithelioma 43 0.025
727
P BLP003 Blepharospasm 42 0.025
728
MLT018 Multiple Carboxylase Deficiency 42 0.025
729
CRT015 Carotid Artery Occlusion 41 0.025
730
P EPN001 Ependymoblastoma 41 0.025
731
OPT007 Optic Nerve Glioma 41 0.025
732
c HYP073 Hypersensitivity Reaction Type Iv Disease 41 0.025
733
VRN001 Vernal Conjunctivitis 41 0.025
734
c DFN107 Deafness, Autosomal Dominant 10 41 0.025
735
c CTR130 Cataract 9, Multiple Types 40 0.025
736
c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 39 0.025
737
c INH004 Inherited Blood Coagulation Disease 39 0.025
738
P ANL018 Analbuminemia 39 0.025
739
MLK003 Melkersson-Rosenthal Syndrome 38 0.025
740
CRP010 Corpus Callosum Agenesis 37 0.025
741
P CNT036 Central Nervous System Germ Cell Tumor 37 0.025
742
AML001 Amelanotic Melanoma 37 0.025
743
INT078 Intracranial Thrombosis 37 0.025
744
DYS016 Dysgammaglobulinemia 36 0.025
745
MNC004 Monoclonal Paraproteinemia 36 0.025
746
DNT014 Dental Pulp Disease 36 0.025
747
c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 35 0.025
748
DYS006 Dysembryoplastic Neuroepithelial Tumor 34 0.025
749
DNC004 Diencephalic Syndrome 34 0.025
750
c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 33 0.025
751
P MYC026 Myoclonus Epilepsy 32 0.025
752
AST002 Astroblastoma 32 0.025
753
CRV030 Cervical Adenitis 30 0.025
754
INF133 Inferior Vena Cava Interruption 29 0.025
755
c FML250 Familial Progressive Cardiac Conduction Defect 29 0.025
756
MTP028 Metaphyseal Dysplasia, Spahr Type 26 0.025
757
OCL003 Oculomotor Nerve Paralysis 24 0.025
758
THR010 Third Cranial Nerve Disease 24 0.025
759
RTN158 Retinitis Pigmentosa with or Without Situs Inversus 21 0.025
760
ARG004 Argyria 19 0.025
761
c RLB001 Rlbp1-Related Fundus Albipunctatus 15 0.025
762
MLR004 Malaria 82 0.022
763
ULC004 Ulcerative Colitis 72 0.022
764
P ESS003 Essential Thrombocythemia 70 0.022
765
TTR001 Tetralogy of Fallot 69 0.022
766
TBR010 Tuberculosis 69 0.022
767
BSL036 Basal Cell Nevus Syndrome 67 0.022
768
P HLP001 Holoprosencephaly 65 0.022
769
P HMP002 Hemophagocytic Lymphohistiocytosis 64 0.022
770
ALL003 Allergic Rhinitis 63 0.022
771
RCT015 Reactive Arthritis 63 0.022
772
PRT037 Pertussis 63 0.022
773
BHC003 Behcet Syndrome 62 0.022
774
GST092 Gastroesophageal Reflux 62 0.022
775
PLM129 Pulmonary Disease, Chronic Obstructive 62 0.022
776
CHR066 Chronic Fatigue Syndrome 61 0.022
777
CTN007 Cutaneous Leishmaniasis 61 0.022
778
P ASP006 Aspergillosis 60 0.022
779
c CNT035 Central Nervous System Disease 60 0.022
780
DNG002 Dengue Hemorrhagic Fever 60 0.022
781
DRR010 Darier Disease 59 0.022
782
P CMR001 Camurati-Engelmann Disease 59 0.022
783
c MLG068 Malignant Glioma 59 0.022
784
P NPH012 Nephrotic Syndrome 59 0.022
785
PLY125 Polycythemia Vera, Somatic 59 0.022
786
P VNT002 Ventricular Septal Defect 58 0.022
787
THR009 Thrombocytopenia-Absent Radius Syndrome 58 0.022
788
MYL045 Myelofibrosis with Myeloid Metaplasia, Somatic 57 0.022
789
P THR005 Thrombotic Thrombocytopenic Purpura 57 0.022
790
PLL001 Pallister-Hall Syndrome 56 0.022
791
SCH014 Schistosomiasis 56 0.022
792
CNG008 Congenital Ichthyosiform Erythroderma 55 0.022
793
PNC034 Pancreas Disease 55 0.022
794
ORL015 Oral Squamous Cell Carcinoma 55 0.022
795
GST033 Gestational Diabetes 55 0.022
796
QFV001 Q Fever 55 0.022
797
SPT004 Septic Arthritis 55 0.022
798
P SPN301 Spinocerebellar Ataxia 2 55 0.022
799
VSC003 Visceral Leishmaniasis 55 0.022
800
BRN012 Bronchiolitis Obliterans 55 0.022
801
PLM031 Poliomyelitis 55 0.022
802
c ART101 Aortic Valve Disease 2 54 0.022
803
PLN006 Poland Syndrome 54 0.022
804
TNG009 Tongue Squamous Cell Carcinoma 54 0.022
805
P GRS003 Griscelli Syndrome 54 0.022
806
ALL006 Allergic Asthma 54 0.022
807
GST023 Gastric Ulcer 54 0.022
808
P HYP027 Hypobetalipoproteinemia 54 0.022
809
FLR002 Filariasis 54 0.022
810
c GRS014 Griscelli Syndrome, Type 2 53 0.022
811
PLC005 Placental Insufficiency 53 0.022
812
HLY001 Hailey-Hailey Disease 53 0.022
813
c BCT007 Bacterial Meningitis 53 0.022
814
PLM012 Pulmonary Sarcoidosis 53 0.022
815
ERY003 Erythema Multiforme 53 0.022
816
PNM008 Pneumothorax 53 0.022
817
c SVR001 Severe Acute Respiratory Syndrome 53 0.022
818
CSY001 C Syndrome 53 0.022
819
HMR039 Hemorrhage, Intracerebral 52 0.022
820
PST046 Post-Transplant Lymphoproliferative Disease 52 0.022
821
P ACT135 Acute Graft Versus Host Disease 52 0.022
822
ECH003 Echinococcosis 52 0.022
823
PRC002 Paracoccidioidomycosis 52 0.022
824
KRT006 Keratoconjunctivitis 52 0.022
825
CYS005 Cysticercosis 52 0.022
826
GTR002 Goiter 52 0.022
827
P ATR001 Atrioventricular Septal Defect 52 0.022
828
ALL026 Allergic Hypersensitivity Disease 52 0.022
829
GST040 Gastric Adenocarcinoma 51 0.022
830
GNT003 Genital Herpes 51 0.022
831
P ACT105 Acute Mountain Sickness 51 0.022
832
P HYP370 Hypokalemic Periodic Paralysis, Type 1 51 0.022
833
BNM001 Bone Marrow Cancer 51 0.022
834
SPN051 Spondylitis 51 0.022
835
P LCT001 Lactic Acidosis 50 0.022
836
PLG002 Plague 50 0.022
837
ESP020 Esophageal Atresia 50 0.022
838
c TRC102 Trichothiodystrophy 1, Photosensitive 50 0.022
839
ALL009 Allergic Conjunctivitis 50 0.022
840
P PLY023 Polycystic Liver Disease 49 0.022
841
VLV011 Vulvovaginal Candidiasis 49 0.022
842
GNG004 Ganglioglioma 49 0.022
843
c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 49 0.022
844
IMP005 Impotence 49 0.022
845
THR013 Thoracic Outlet Syndrome 49 0.022
846
GLM004 Gliomatosis Cerebri 49 0.022
847
ONC002 Onchocerciasis 48 0.022
848
c GMM003 Gamma Heavy Chain Disease 48 0.022
849
BRN032 Brain Glioma 48 0.022
850
INT051 Intussusception 48 0.022
851
c CNG415 Congenital Disorder of Glycosylation, Type Ia 48 0.022
852
P TRN034 Transverse Myelitis 48 0.022
853
OVR063 Overnutrition 48 0.022
854
c MCP040 Mucopolysaccharidosis-Plus Syndrome 48 0.022
855
MYL001 Myelitis 48 0.022
856
c CNG412 Congenital Disorder of Glycosylation, Type Ii 47 0.022
857
P HYP366 Hyperkalemic Periodic Paralysis, Type 2 47 0.022
858
CRB025 Carbohydrate Metabolic Disorder 47 0.022
859
PNM001 Pneumocystosis 47 0.022
860
c BRC078 Brachydactyly, Type A1 47 0.022
861
c THR103 Thrombocytopenia, Congenital Amegakaryocytic 47 0.022
862
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 47 0.022
863
CHL018 Childhood Medulloblastoma 46 0.022
864
URN003 Urinary Schistosomiasis 46 0.022
865
TRN044 Transposition of the Great Arteries 46 0.022
866
CRY003 Cryptosporidiosis 46 0.022
867
c FRC011 Fructose Intolerance, Hereditary 46 0.022
868
c INV001 Invasive Aspergillosis 46 0.022
869
EBS001 Ebstein Anomaly 46 0.022
870
SPR010 Sporotrichosis 46 0.022
871
TWN001 Twin-to-Twin Transfusion Syndrome 46 0.022
872
ATX003 Ataxia with Isolated Vitamin E Deficiency 46 0.022
873
P PNB001 Pineoblastoma 46 0.022
874
c GLC062 Glaucoma 1, Open Angle, E 46 0.022
875
PLR001 Pleural Tuberculosis 46 0.022
876
P AMY082 Amyloidosis, Familial Visceral 46 0.022
877
PTT009 Pituitary Gland Disease 46 0.022
878
BRL010 Buruli Ulcer 46 0.022
879
ILT001 Ileitis 46 0.022
880
NDL007 Nodular Goiter 45 0.022
881
CMP002 Campylobacteriosis 45 0.022
882
PLY020 Polyradiculoneuropathy 45 0.022
883
NCR007 Necrotizing Fasciitis 45 0.022
884
P PLM040 Pulmonary Valve Disease 45 0.022
885
MST016 Mesothelioma, Somatic 45 0.022
886
P TRC087 Tricuspid Valve Disease 45 0.022
887
HYP458 Hyper Ige Syndrome 45 0.022
888
PNT038 Peanut Allergy 44 0.022
889
c HRD039 Hereditary Amyloidosis 44 0.022
890
c ACT042 Acute Pyelonephritis 44 0.022
891
MLT006 Multidrug-Resistant Tuberculosis 44 0.022
892
HMP009 Haemophilus Influenzae 44 0.022
893
c ALP074 Alport Syndrome, Autosomal Dominant 44 0.022
894
P SLL003 Salla Disease 44 0.022
895
GLC011 Galactose Epimerase Deficiency 44 0.022
896
SLV003 Salivary Gland Disease 44 0.022
897
EXT033 Extrapulmonary Tuberculosis 43 0.022
898
INF039 Infratentorial Cancer 43 0.022
899
PRM020 Premenstrual Tension 43 0.022
900
AMB001 Amebiasis 43 0.022
901
CHC001 Chickenpox 43 0.022
902
PRT009 Parotid Gland Cancer 43 0.022
903
NDL003 Nodular Nonsuppurative Panniculitis 43 0.022
904
CD4003 Cd40 Ligand Deficiency 43 0.022
905
c PRG126 Progressive Familial Heart Block 43 0.022
906
c PLY146 Polycystic Liver Disease 1 42 0.022
907
MNN020 Meningococcal Infection 42 0.022
908
SPN119 Spondylarthropathy 42 0.022
909
c ACQ012 Acquired Angioedema 42 0.022
910
HPT020 Hepatic Vascular Disease 42 0.022
911
P RSM001 Rasmussen Encephalitis 42 0.022
912
BMF001 Bamforth-Lazarus Syndrome 42 0.022
913
P ATR010 Atrial Heart Septal Defect 42 0.022
914
NPH010 Nephrosclerosis 42 0.022
915
STT002 Status Asthmaticus 42 0.022
916
SBP004 Subependymoma 42 0.022
917
c ACT159 Acute Transverse Myelitis 42 0.022
918
VRL003 Variola Major 42 0.022
919
MTR010 Mature Teratoma 42 0.022
920
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 42 0.022
921
c INF086 Inflammatory Bowel Disease 3 41 0.022
922
ANC001 Ancylostomiasis 41 0.022
923
P BRN042 Branchiootic Syndrome 41 0.022
924
NRN005 Neuronal Ceroid-Lipofuscinoses 41 0.022
925
ATP013 Atopic Keratoconjunctivitis 41 0.022
926
OPP002 Opportunistic Mycosis 41 0.022
927
IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 41 0.022
928
URT004 Urethral Syndrome 41 0.022
929
CRD137 Cardiogenic Shock 41 0.022
930
NRS003 Neurosyphilis 41 0.022
931
ESN004 Eosinophilic Gastritis 41 0.022
932
CNT019 Central Neurocytoma 41 0.022
933
c CHR020 Chronic Interstitial Cystitis 41 0.022
934
PYG006 Pyogenic Granuloma 41 0.022
935
c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 40 0.022
936
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40 0.022
937
HRT011 Heart Septal Defect 40 0.022
938
PNC085 Penicillin Allergy 40 0.022
939
BRN080 Brain Ischemia 40 0.022
940
P HVY001 Heavy Chain Disease 40 0.022
941
CRT004 Carotid Artery Thrombosis 40 0.022
942
c PLY139 Polycystic Kidney Disease 3 40 0.022
943
MCR225 Macrophage Activation Syndrome 40 0.022
944
P BRN006 Branchiootorenal Syndrome 40 0.022
945
c SCN005 Secondary Hypertrophic Osteoarthropathy 40 0.022
946
BRN014 Bronchopneumonia 40 0.022
947
URT001 Urethritis 40 0.022
948
ANG025 Angioimmunoblastic Lymphadenopathy with Dysproteinemia 40 0.022
949
GRD001 Giardiasis 40 0.022
950
RNL012 Renal Tuberculosis 39 0.022
951
DFF019 Diffuse Gastric Cancer 39 0.022
952
TXC020 Toxic Oil Syndrome 39 0.022
953
CMP009 Complement Deficiency 39 0.022
954
c HRT021 Heart Block, Progressive, Type Ia 39 0.022
955
c THR090 Thrombocythemia 1 39 0.022
956
c BRG007 Brugada Syndrome 5 39 0.022
957
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 38 0.022
958
SPC003 Specific Developmental Disorder 38 0.022
959
c PLN017 Peeling Skin Syndrome 1 38 0.022
960
P ATM020 Autoimmune Enteropathy 38 0.022
961
NRP016 Neuropathy, Recurrent, with Pressure Palsies 38 0.022
962
BRN107 Branchiootorenal Syndrome 1, with or Without Cataracts 37 0.022
963
LPD014 Lipodermatosclerosis 37 0.022
964
AMY002 Amyloid Tumor 37 0.022
965
CRP017 Carpal Tunnel Syndrome, Familial 37 0.022
966
INC003 Inclusion Conjunctivitis 37 0.022
967
TNS007 Taeniasis 37 0.022
968
c THR111 Thrombocytopenia 3 37 0.022
969
c CNG033 Congenital Syphilis 37 0.022
970
SML028 Semilobar Holoprosencephaly 36 0.022
971
c ACT059 Acute Maxillary Sinusitis 36 0.022
972
MLG065 Malignant Fibroxanthoma 36 0.022
973
NDL005 Nodular Medulloblastoma 36 0.022
974
VNS002 Venous Hemangioma 36 0.022
975
LSB001 Louse-Borne Relapsing Fever 36 0.022
976
MRS001 Marasmus 36 0.022
977
BTL002 Beta-Lactam Allergy 36 0.022
978
LTX001 Latex Allergy 36 0.022
979
HYP015 Hyperlucent Lung 35 0.022
980
HRP025 Herpes Simplex Virus Keratitis 35 0.022
981
EXC003 Excessive Tearing 35 0.022
982
LKS001 Leukostasis 35 0.022
983
OPH002 Ophthalmia Neonatorum 35 0.022
984
P SPL061 Split Hand-Foot Malformation 35 0.022
985
IMM003 Immunoglobulin Alpha Deficiency 35 0.022
986
VNW006 Von Willebrand Disease, Types 2a, 2b, 2m, and 2n 35 0.022
987
c SBC003 Subacute Bacterial Endocarditis 34 0.022
988
c BCT006 Bacterial Conjunctivitis 34 0.022
989
c DFN192 Deafness, Autosomal Dominant 23 34 0.022
990
ALB014 Alobar Holoprosencephaly 34 0.022
991
c ALP005 Alpha Chain Disease 34 0.022
992
NRV004 Nerve Compression Syndrome 34 0.022
993
VNT001 Ventilation Pneumonitis 34 0.022
994
BRN026 Branch Retinal Artery Occlusion 34 0.022
995
P SPL050 Split Hand-Split Foot Malformation 34 0.022
996
LBR025 Lobar Holoprosencephaly 34 0.022
997
SLC005 Selective Iga Deficiency Disease 34 0.022
998
BRN031 Brain Germinoma 33 0.022
999
c TRN009 Transient Hypogammaglobulinemia of Infancy 33 0.022
1000
CRY008 Cryopyrin-Associated Periodic Syndrome 33 0.022
1001
CRV069 Cervix Disease 33 0.022
1002
c HMG004 Hemoglobin D Disease 33 0.022
1003
RHN003 Rhinosporidiosis 33 0.022
1004
LCR001 Lacrimal Duct Obstruction 33 0.022
1005
MYS002 Myositis Fibrosa 33 0.022
1006
FLL029 Fallopian Tube Disease 32 0.022
1007
CRD161 Ceroid Lipofuscinosis, Neuronal, 13, Kufs Type 32 0.022
1008
c CNG020 Congenital Hypogammaglobulinemia 32 0.022
1009
EXT025 Extragonadal Germ Cell Cancer 32 0.022
1010
PPL013 Papillary Ependymoma 32 0.022
1011
ERL004 Early Yaws 31 0.022
1012
MCR173 Microform Holoprosencephaly 31 0.022
1013
MYC022 Mycoplasmal Pneumonia 31 0.022
1014
PLY010 Polyclonal Hypergammaglobulinemia 31 0.022
1015
ASY002 Asymptomatic Neurosyphilis 31 0.022
1016
RTC001 Reticulohistiocytic Granuloma 31 0.022
1017
IMM044 Immunoglobulin G Deficiency 31 0.022
1018
PRS123 Persistent Generalized Lymphadenopathy 31 0.022
1019
BRL001 Brill-Zinsser Disease 31 0.022
1020
PPL039 Papillary Glioneuronal Tumor 31 0.022
1021
ATM016 Autoimmune Disease of Skin and Connective Tissue 30 0.022
1022
c DFN260 Deafness, Autosomal Recessive 89 30 0.022
1023
SPN034 Spindle Cell Synovial Sarcoma 30 0.022
1024
c NRV012 Nervous System Benign Neoplasm 30 0.022
1025
c CHR094 Chronic Polyneuropathy 30 0.022
1026
LCH003 Lichen Nitidus 30 0.022
1027
P SLP003 Salpingitis 30 0.022
1028
CMM006 Commensal Bacterial Infectious Disease 30 0.022
1029
P INT283 Integumentary System Cancer 30 0.022
1030
P CNT044 Central Nervous System Primitive Neuroectodermal Neoplasm 30 0.022
1031
PRT048 Partial Atrioventricular Canal 30 0.022
1032
ANS004 Anisometropia 30 0.022
1033
HTR001 Heterophyiasis 30 0.022
1034
GST039 Gastroduodenitis 30 0.022
1035
FRS012 First-Degree Atrioventricular Block 29 0.022
1036
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 29 0.022
1037
VSL005 Visual Pathway Disease 29 0.022
1038
GNC003 Geniculate Herpes Zoster 29 0.022
1039
PHL003 Phlebotomus Fever 29 0.022
1040
INS022 in Situ Pulmonary Adenocarcinoma 29 0.022
1041
P CNT093 Central Nervous System Teratoma 29 0.022
1042
RNL104 Renal Hypodysplasia 29 0.022
1043
CRB005 Cerebral Arteritis 29 0.022
1044
SPT016 Septopreoptic Holoprosencephaly 29 0.022
1045
c DFN111 Deafness, Autosomal Recessive 35 28 0.022
1046
P ADL037 Adult Xanthogranuloma 28 0.022
1047
PRT031 Parotid Disease 28 0.022
1048
NNS003 Non-Secretory Myeloma 28 0.022
1049
CLC010 Calcifying Epithelial Odontogenic Tumor 28 0.022
1050
GLY031 Glycoproteinosis 28 0.022
1051
TLG001 Telogen Effluvium 27 0.022
1052
BYL001 Baylisascariasis 27 0.022
1053
TBL007 Tibial Neuropathy 27 0.022
1054
TNY001 Tanycytic Ependymoma 27 0.022
1055
P PRD017 Periodic Paralyses 27 0.022
1056
CTN001 Cutaneous Solitary Mastocytoma 26 0.022
1057
INF027 Infiltrative Basal Cell Carcinoma 26 0.022
1058
ANP007 Anaplastic Ganglioglioma 26 0.022
1059
MDN001 Median Rhomboid Glossitis 26 0.022
1060
ORB010 Orbital Granuloma 25 0.022
1061
TRC013 Trichostrongylosis 25 0.022
1062
P MCL022 Mucolipidoses 25 0.022
1063
SLC004 Selective Igg Deficiency Disease 25 0.022
1064
PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 24 0.022
1065
CRY006 Cryofibrinogenemia 24 0.022
1066
c CNG022 Congenital Granular Cell Tumor 24 0.022
1067
SLC007 Selective Immunoglobulin Deficiency Disease 24 0.022
1068
P C1Q005 C1q Nephropathy 24 0.022
1069
c PRM255 Premature Ovarian Failure 12 23 0.022
1070
TBR003 Tuberculous Epididymitis 23 0.022
1071
FML264 Familial Bicuspid Aortic Valve 23 0.022
1072
P SLP004 Salpingo-Oophoritis 22 0.022
1073
c DFN177 Deafness, Autosomal Recessive 5 22 0.022
1074
LSC003 Luscan-Lumish Syndrome 21 0.022
1075
JNC002 Junctional Epidermolysis Bullosa Inversa 21 0.022
1076
HYP213 Hypomelanotic Disorder 21 0.022
1077
HYP018 Hyperglobulinemic Purpura 21 0.022
1078
CRK001 Cork-Handlers' Disease 21 0.022
1079
c CRN172 Coronary Heart Disease 3 20 0.022
1080
c DFN161 Deafness, Autosomal Dominant 53 20 0.022
1081
c RTN196 Retinitis Pigmentosa 78 20 0.022
1082
PTC006 Potocki-Luspski Syndrome 20 0.022
1083
ETH012 Ethylene Glycol Poisoning 19 0.022
1084
MNN005 Meningovascular Neurosyphilis 19 0.022
1085
c RTN195 Retinitis Pigmentosa 79 19 0.022
1086
CMP069 Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 19 0.022
1087
PRS035 Parasitic Ichthyosporea Infectious Disease 18 0.022
1088
EXD002 Exudative Glomerulonephritis 18 0.022
1089
HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 18 0.022
1090
BRN121 Branchiootorenal/branchiootic Syndrome 17 0.022
1091
AXL002 Axillary Adenitis 17 0.022
1092
TRC027 Trichostrongyloidiasis 16 0.022
1093
CLN039 Cln4 Disease 15 0.022
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