Search results for "macular dystrophy"

The MalaCard for "macular dystrophy" has been retired.
Searching MalaCards for entries containing "macular dystrophy"

804 hits were found for 'macular dystrophy'

# Family MCID Name MIFTS Score
1
MCL002 Macular Corneal Dystrophy 49 7.580
2
P MCL066 Macular Dystrophy, Vitelliform, 2 47 7.560
3
BST007 Best Vitelliform Macular Dystrophy 30 5.711
4
c MCL060 Macular Dystrophy, Vitelliform, 3 39 5.315
5
OCC002 Occult Macular Dystrophy 40 4.578
6
MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 27 4.524
7
MCL027 Macular Dystrophy, Dominant Cystoid 38 4.500
8
ECT046 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 27 4.156
9
P MCL059 Macular Dystrophy, Patterned, 1 24 4.048
10
MSM001 Meesmann Corneal Dystrophy 41 3.962
11
P MCL035 Macular Dystrophy, Retinal, 2 27 3.890
12
c STR040 Stargardt Disease 3 25 3.615
13
HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 21 3.604
14
SRS007 Sorsby Fundus Dystrophy 46 3.531
15
c MCL061 Macular Dystrophy, Vitelliform, 4 20 3.320
16
MCL017 Macular Dystrophy, Atypical Vitelliform 7 3.292
17
BLL017 Bullous Dystrophy, Hereditary Macular Type 16 3.204
18
JVN017 Juvenile Macular Degeneration and Hypotrichosis 10 3.006
19
c MCL056 Macular Dystrophy, Vitelliform, 5 20 2.984
20
MCL063 Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 14 2.970
21
MCL057 Macular Dystrophy with Central Cone Involvement 16 2.931
22
c STR084 Stargardt Disease 1 52 2.898
23
c MCL026 Macular Dystrophy, Retinal, 3 18 2.636
24
MCL018 Macular Dystrophy, Concentric Annular 19 2.564
25
OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 19 2.389
26
CNR014 Cone-Rod Dystrophy 16 25 2.375
27
CHR406 Choriodal Dystrophy, Central Areolar 2 18 2.350
28
STR046 Stargardt Macular Degeneration 29 2.295
29
c MCL070 Macular Dystrophy, Patterned, 3 12 2.087
30
MSL002 Mousa Al Din Al Nassar Syndrome 7 2.077
31
P STR022 Stargardt Disease 54 2.057
32
CNR032 Cone-Rod Dystrophy 21 18 2.032
33
BTT011 Butterfly-Shaped Pigment Dystrophy 24 1.897
34
c STR042 Stargardt Disease, Autosomal Recessive 18 1.866
35
c ABC008 Abca4-Related Stargardt Disease 1 11 1.824
36
c CNG137 Cngb3-Related Stargardt Disease 1 8 1.824
37
SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 16 1.713
38
c PRP044 Prph2-Related Adult-Onset Vitelliform Macular Dystrophy 6 1.480
39
KPS004 Kaposi Sarcoma 66 1.471
40
MLT113 Multicentric Castleman Disease 47 1.453
41
MLT018 Multiple Carboxylase Deficiency 40 1.446
42
RTN023 Retinitis 49 0.626
43
P MSC005 Muscular Dystrophy 64 0.585
44
RTN018 Retinal Disease 56 0.501
45
P RTN016 Retinal Degeneration 54 0.482
46
c MCL042 Macular Degeneration, Age-Related, 1 71 0.479
47
EYD001 Eye Degenerative Disease 31 0.465
48
EYD002 Eye Disease 63 0.450
49
ETH011 Ethylmalonic Encephalopathy 59 0.439
50
MCL003 Macular Holes 41 0.433
51
c MCL043 Macular Degeneration, Age-Related, 2 34 0.420
52
CRN025 Corneal Dystrophy 41 0.413
53
GLB003 Globe Disease 35 0.353
54
HYD057 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 44 0.349
55
P MYT002 Myotonic Dystrophy 47 0.342
56
c MCL040 Macular Degeneration, Age-Related, 3 34 0.327
57
MCL006 Macular Retinal Edema 40 0.322
58
END072 Endotheliitis 42 0.312
59
CHR008 Choroiditis 43 0.296
60
c MCR115 Microvascular Complications of Diabetes 5 60 0.295
61
c MCL038 Macular Degeneration, Age-Related, 4 27 0.292
62
RTN020 Retinal Vascular Disease 50 0.266
63
P CTR002 Cataract 57 0.261
64
c MCL051 Macular Degeneration, Age-Related, 12 25 0.252
65
c MCL036 Macular Degeneration, Age-Related, 6 28 0.245
66
RTN017 Retinal Detachment 57 0.233
67
P RTN008 Retinitis Pigmentosa 79 0.225
68
P LMB006 Limb-Girdle Muscular Dystrophy 50 0.222
69
ALN001 Aland Island Eye Disease 45 0.214
70
CNR002 Cone-Rod Dystrophy 68 0.207
71
c MCL065 Macular Degeneration, Age-Related, 15 23 0.201
72
P MYP004 Myopathy 67 0.189
73
c MCL064 Macular Degeneration, Age-Related 5 27 0.188
74
P AMY004 Amyloidosis 64 0.178
75
UVL003 Uveal Diseases 14 0.172
76
PRP026 Peripheral Retinal Degeneration 34 0.168
77
P RTN025 Retinoschisis 59 0.167
78
FND002 Fundus Dystrophy 46 0.166
79
VTR005 Vitreous Disease 47 0.166
80
c MCL039 Macular Degeneration, Age-Related, 8 26 0.164
81
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 47 0.163
82
P UVT001 Uveitis 59 0.163
83
VND001 Vein Disease 52 0.162
84
CHR079 Choroid Disease 34 0.156
85
CND005 Cone Dystrophy 38 0.155
86
PGM003 Pigmentation Disease 42 0.153
87
ALR002 Al-Raqad Syndrome 36 0.152
88
P MYP006 Myopia 59 0.150
89
CTS003 Coats Disease 57 0.149
90
P NRP001 Neuropathy 60 0.143
91
MCL047 Macular Amyloidosis 22 0.143
92
P MCR129 Microvascular Complications of Diabetes 1 57 0.141
93
c THR092 Thrombophilia Due to Thrombin Defect 56 0.137
94
c OPT055 Optic Atrophy Plus Syndrome 54 0.136
95
MSC004 Muscle Tissue Disease 36 0.135
96
LNS003 Lens Disease 38 0.132
97
HRD016 Hereditary Retinal Dystrophy 36 0.127
98
c MCL044 Macular Degeneration, Age-Related, 9 23 0.126
99
RDN001 Reading Disorder 39 0.125
100
PRP027 Peripheral Vascular Disease 69 0.124
101
P XLN007 X-Linked Disease 34 0.118
102
P HYP087 Hypotrichosis 45 0.116
103
RTN002 Retinal Perforation 32 0.112
104
P ATX004 Ataxia 53 0.111
105
P KRT007 Keratoconus 51 0.109
106
ISC004 Ischemia 59 0.106
107
ADT003 Auditory System Disease 51 0.106
108
VSC007 Vascular Disease 67 0.105
109
c OPT053 Optic Atrophy 1 46 0.105
110
ACD009 Acid-Labile Subunit, Deficiency of 48 0.104
111
PHR003 Pharyngitis 58 0.104
112
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.103
113
HPT074 Hepatic Adenoma, Somatic 51 0.103
114
BRT030 Birth Defects 43 0.103
115
P VTR008 Vitreoretinal Degeneration 34 0.102
116
c OPT023 Optic Atrophy 2 27 0.102
117
CNT060 Central Serous Chorioretinopathy 40 0.102
118
P NRV007 Nervous System Disease 71 0.102
119
OPT006 Optic Nerve Disease 51 0.102
120
SCT002 Scotoma 39 0.101
121
ACR041 Acromelic Frontonasal Dysostosis 46 0.101
122
FST001 Foster-Kennedy Syndrome 34 0.101
123
P PRM016 Primary Optic Atrophy 32 0.100
124
ABL002 Ablepharon-Macrostomia Syndrome 57 0.099
125
AND005 Androgen Insensitivity Syndrome, Mild 16 0.098
126
P INF032 Infertility 61 0.098
127
HNM002 Hinman Syndrome 25 0.097
128
CRN024 Corneal Disease 44 0.097
129
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.097
130
TLN003 Telangiectasis 52 0.097
131
AYM001 Ayme-Gripp Syndrome 45 0.095
132
NSD001 Nose Disease 52 0.094
133
CVT001 Cavitary Optic Disc Anomalies 32 0.094
134
NWC001 Newcastle Disease 54 0.092
135
PPL023 Pupil Disease 23 0.087
136
c LBR014 Leber Congenital Amaurosis 4 47 0.087
137
EPD016 Epidermolysis Bullosa 57 0.086
138
CNV002 Conversion Disorder 42 0.085
139
c OPT025 Optic Atrophy 6 22 0.083
140
CHR078 Chorioretinitis 41 0.083
141
MLT021 Multiple System Atrophy 71 0.082
142
MVM001 Movement Disease 54 0.082
143
P ART022 Arthritis 75 0.080
144
LPD004 Lipoid Nephrosis 48 0.078
145
NRN002 Neuronitis 42 0.078
146
CRB009 Cerebritis 38 0.078
147
c MCL062 Mucolipidosis Ii Alpha/beta 60 0.078
148
c STR054 Stargardt Disease 4 23 0.077
149
P EPL164 Epilepsy 66 0.077
150
PRR004 Preretinal Fibrosis 36 0.077
151
AMB002 Amblyopia 46 0.076
152
P FND001 Fundus Albipunctatus 55 0.076
153
P ALP004 Alport Syndrome 68 0.076
154
c PST005 Posterior Uveitis 45 0.075
155
BRN106 Burns 52 0.075
156
ENH001 Enhanced S-Cone Syndrome 45 0.075
157
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 38 0.074
158
CNR031 Cone-Rod Dystrophy, X-Linked, 1 24 0.074
159
P CRN026 Corneal Edema 40 0.074
160
c ANT034 Anterior Uveitis 49 0.073
161
RFR003 Refractive Error 42 0.073
162
SLP005 Sleep Disorder 53 0.073
163
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 60 0.072
164
ALL026 Allergic Hypersensitivity Disease 53 0.072
165
P DBT085 Diabetes Mellitus, Insulin-Dependent 80 0.071
166
P TRC086 Trichohepatoenteric Syndrome 1 46 0.070
167
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 41 0.070
168
P HRT032 Heart Disease 76 0.070
169
OCL011 Ocular Motility Disease 38 0.070
170
OCL009 Ocular Cancer 62 0.070
171
ATN002 Autonomic Nervous System Disease 47 0.070
172
PCK002 Pick Disease 67 0.069
173
P LBR001 Leber Congenital Amaurosis 60 0.068
174
WTH001 Withdrawal Disorder 41 0.068
175
c OPT059 Optic Atrophy 4 19 0.068
176
P IDP065 Idiopathic Macular Telangiectasia Type 1 12 0.068
177
P SPS003 Spastic Diplegia 53 0.068
178
c INT064 Intermediate Uveitis 52 0.068
179
DGN001 Degenerative Disc Disease 53 0.066
180
RTN015 Retinal Cancer 51 0.066
181
RTN003 Retinal Ischemia 48 0.066
182
c TRC078 Trichohepatoenteric Syndrome 2 31 0.066
183
CNR005 Cone-Rod Dystrophy 3 33 0.065
184
ALP008 Alopecia 55 0.065
185
NRT004 Neuritis 52 0.064
186
c BLD124 Bleeding Disorder, Platelet-Type, 11 42 0.064
187
DSS010 Dissociative Disorder 35 0.064
188
P EXN002 Exanthem 57 0.064
189
CRN010 Corneal Granular Dystrophy 28 0.064
190
STR086 Stromal Dystrophy 27 0.064
191
CNR007 Cone-Rod Dystrophy 6 45 0.064
192
GLC077 Glucocorticoid Therapy, Response to 19 0.063
193
ADM013 Adamantinoma of Long Bones 59 0.062
194
ECT006 Ectodermal Dysplasia 47 0.062
195
CHR081 Choroideremia 53 0.062
196
ADJ001 Adjustment Disorder 38 0.062
197
CNR006 Cone-Rod Dystrophy 5 23 0.062
198
MNK001 Menkes Disease 61 0.062
199
P CRB042 Cerebellar Ataxia 64 0.062
200
P RTN014 Retinal Artery Occlusion 43 0.061
201
KRT008 Keratopathy 46 0.061
202
THR100 Thrombocytopenic Purpura, Autoimmune 53 0.061
203
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 44 0.061
204
BLD054 Blood Protein Disease 40 0.061
205
P HPT021 Hepatitis 70 0.061
206
CNR013 Cone-Rod Dystrophy 12 23 0.061
207
SPS057 Spasticity 42 0.060
208
CRN046 Corneal Fleck Dystrophy 36 0.060
209
RTN019 Retinal Telangiectasia 27 0.060
210
DBT084 Diabetes Mellitus, Ketosis-Prone 50 0.059
211
OCL006 Ocular Hypertension 48 0.059
212
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.059
213
CRN022 Corneal Degeneration 31 0.059
214
CND018 Cone Dystrophy-3 26 0.058
215
CND012 Cone Dystrophy 4 26 0.058
216
PRD011 Proud Syndrome 42 0.058
217
PLY023 Polycystic Liver Disease 57 0.058
218
CYT005 Cytomegalovirus Retinitis 49 0.058
219
P END047 Endophthalmitis 46 0.058
220
CNR025 Cone-Rod Dystrophy 15 24 0.058
221
KRT004 Keratitis 70 0.057
222
P MYS033 Miyoshi Muscular Dystrophy 1 42 0.057
223
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 26 0.057
224
CNG034 Congestive Heart Failure 71 0.057
225
P CLR019 Color Blindness 47 0.056
226
BLL004 Bullous Keratopathy 44 0.056
227
ADP007 Adie Pupil 34 0.056
228
INC021 Incontinentia Pigmenti 60 0.055
229
CLD014 Cole Disease 39 0.055
230
BLC001 Blue Cone Monochromacy 40 0.055
231
CNR021 Cone-Rod Dystrophy 10 24 0.055
232
CNR024 Cone-Rod Dystrophy 13 22 0.055
233
CNR012 Cone-Rod Dystrophy 11 19 0.055
234
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.055
235
RTN035 Retinal Cone Dystrophy 3b 24 0.055
236
c RTN162 Retinitis Pigmentosa 2 51 0.054
237
P OBS005 Obesity 93 0.054
238
P MCR010 Microcephaly 58 0.054
239
P NGH001 Night Blindness 49 0.054
240
P CRN178 Coronary Heart Disease 6 24 0.054
241
BTH002 Bothnia Retinal Dystrophy 21 0.054
242
CNR017 Cone-Rod Dystrophy 9 21 0.054
243
SKN016 Skin Disease 68 0.054
244
P SLP006 Sleep Apnea 61 0.054
245
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.054
246
PPL021 Papilledema 48 0.054
247
CRB033 Cerebral Degeneration 46 0.054
248
PRS012 Pars Planitis 42 0.054
249
P ACH003 Achromatopsia 53 0.054
250
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 13 0.053
251
CNR028 Cone-Rod Dystropy, X-Linked, 3 20 0.053
252
CNR003 Cone-Rod Dystrophy 1 24 0.053
253
c RTN172 Retinitis Pigmentosa 1 45 0.052
254
c RTN058 Retinitis Pigmentosa 3 45 0.052
255
P PLY019 Polyneuropathy 54 0.052
256
CNR016 Cone-Rod Dystrophy 7 27 0.052
257
INS024 Insulin-Like Growth Factor I 74 0.051
258
P PNM007 Pneumonia 66 0.051
259
BLD053 Blood Platelet Disease 46 0.051
260
RSP006 Respiratory System Disease 62 0.051
261
CHL123 Chlamydia 59 0.051
262
RTN084 Retinal Cone Dystrophy 3 26 0.050
263
P ATX010 Ataxia Neuropathy Spectrum 28 0.050
264
CNR023 Cone-Rod Dystrophy 8 12 0.050
265
P LRY019 Laryngitis 55 0.049
266
IRD003 Iridocorneal Endothelial Syndrome 23 0.049
267
ATR060 Atrial Standstill, Digenic 53 0.049
268
c RTN070 Retinitis Pigmentosa 9 33 0.049
269
ATH003 Atherosclerosis 62 0.048
270
VSC011 Vasculitis 62 0.048
271
P UVL004 Uveal Melanoma 56 0.048
272
PMS001 Poems Syndrome 55 0.048
273
P PLY017 Polyarteritis Nodosa 55 0.048
274
P USH001 Usher Syndrome 52 0.048
275
GLC008 Glucose Metabolism Disease 47 0.048
276
P BLD051 Blood Coagulation Disease 45 0.048
277
BRD025 Birdshot Chorioretinopathy 45 0.048
278
NTR005 Nutritional Deficiency Disease 39 0.048
279
IRS003 Iris Disease 32 0.048
280
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 81 0.048
281
HYP266 Hypoxia 55 0.048
282
PHY002 Physical Disorder 44 0.048
283
ALB002 Albinism 43 0.048
284
RCR001 Recurrent Corneal Erosion 35 0.048
285
P PNV001 Panuveitis 49 0.048
286
c HMG001 Hemoglobin C Disease 47 0.048
287
P PTS002 Ptosis 56 0.047
288
PRT032 Partial Central Choroid Dystrophy 26 0.047
289
P HYP086 Hypothyroidism 65 0.047
290
SCH025 Schisis Association 19 0.047
291
OBS061 Obstructive Sleep Apnea 66 0.047
292
P RFS001 Refsum Disease 62 0.047
293
P CNG010 Congenital Stationary Night Blindness 50 0.047
294
ATS008 Autosomal Dominant Disease 42 0.047
295
SKN005 Skin Atrophy 43 0.047
296
P ATR011 Atrial Fibrillation 64 0.046
297
P HMR003 Hemorrhagic Disease 57 0.045
298
c SPN291 Spinocerebellar Ataxia 7 49 0.045
299
P OST005 Osteogenesis Imperfecta 67 0.045
300
VSC006 Vascular Cancer 54 0.045
301
c CHR579 Chiari Malformation Type Ii 38 0.045
302
BSL037 Basal Laminar Drusen 23 0.045
303
HRD064 Hereditary Vascular Retinopathy 15 0.045
304
TTH006 Tooth Disease 52 0.045
305
P THY032 Thyroiditis 54 0.044
306
P ESP024 Esophagitis 62 0.044
307
CNR030 Cone-Rod Dystrophy 20 20 0.044
308
RTN036 Retinal Cone Dystrophy 4 19 0.044
309
SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 17 0.044
310
SWL001 Swallowing Disorders 34 0.044
311
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 30 0.044
312
c CRN173 Coronary Heart Disease 8 20 0.044
313
DMN002 Dementia 64 0.043
314
CNR026 Cone-Rod Dystrophy 18 16 0.043
315
CNR029 Cone-Rod Dystrophy 19 15 0.043
316
SHW002 Shwachman-Diamond Syndrome 60 0.043
317
CHL071 Child Syndrome 58 0.043
318
KDS001 Kid Syndrome 53 0.043
319
ATS010 Autosomal Recessive Disease 41 0.043
320
SPC003 Specific Developmental Disorder 40 0.043
321
P SPS008 Spastic Ataxia 32 0.043
322
MRG013 Mirage Syndrome 26 0.042
323
P CRB088 Cerebral Atrophy 42 0.042
324
P HNT016 Huntington Disease 80 0.042
325
KWS002 Kawasaki Disease 70 0.042
326
P GLM007 Glomerulonephritis 56 0.042
327
P STR020 Strabismus 53 0.042
328
P EXD001 Exudative Vitreoretinopathy 46 0.042
329
HMN009 Hemangioblastoma 45 0.042
330
P SLL003 Salla Disease 43 0.042
331
P RHM011 Rheumatoid Arthritis 88 0.042
332
c CTR121 Cataract 25 34 0.042
333
c SYS001 Systemic Lupus Erythematosus 87 0.041
334
P LPS004 Lupus Erythematosus 63 0.041
335
P NRM001 Neuromyelitis Optica 59 0.041
336
LRN003 Learning Disability 51 0.041
337
c ATS308 Autosomal Dominant Cerebellar Ataxia 49 0.041
338
c RTN087 Retinal Degeneration, Late-Onset, Autosomal Dominant 43 0.041
339
RHY001 Rhyns Syndrome 33 0.041
340
CRT065 Cortisone Reductase Deficiency 1 32 0.041
341
c AST039 Asthma 2 31 0.041
342
c LBR019 Leber Congenital Amaurosis 9 26 0.041
343
P DYS007 Dyskeratosis Congenita 63 0.041
344
SNS001 Sensorineural Hearing Loss 57 0.041
345
P VTR010 Vitreoretinochoroidopathy 32 0.041
346
P PSR002 Psoriasis 63 0.040
347
CHR063 Chronic Mucocutaneous Candidiasis 61 0.040
348
MCR013 Microphthalmia 59 0.040
349
UND005 Undifferentiated Pleomorphic Sarcoma 43 0.040
350
SPN186 Spinal Cord Injury 62 0.039
351
KRT002 Keratomalacia 54 0.039
352
P AMY084 Amyloidosis, Finnish Type 43 0.039
353
RTN032 Retinal Cone Dystrophy 1 12 0.039
354
P HMN010 Hemangioma 60 0.038
355
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 60 0.038
356
EXF001 Exfoliation Syndrome 57 0.038
357
PLM010 Pulmonary Edema 56 0.038
358
P SJG002 Sjogren-Larsson Syndrome 51 0.038
359
P AMY060 Amyloidosis, Primary Localized Cutaneous, 1 47 0.038
360
MDD010 Middle Ear Disease 46 0.038
361
IDP033 Idiopathic Edema 45 0.038
362
P MDL005 Medulloblastoma 77 0.038
363
ETN001 Eating Disorder 60 0.038
364
ANR040 Aneurysm 57 0.038
365
PST095 Post-Thrombotic Syndrome 50 0.038
366
TBR011 Tuberculous Meningitis 46 0.038
367
SNL007 Senile Cataract 38 0.038
368
BNS002 Bone Structure Disease 36 0.038
369
c RTN059 Retinitis Pigmentosa 30 30 0.038
370
c RTN041 Retinitis Pigmentosa 11 28 0.038
371
CHR167 Chorioretinal Atrophy, Progressive Bifocal 17 0.038
372
CNT047 Contact Dermatitis 62 0.038
373
DRM006 Dermatitis 61 0.038
374
URT039 Urticaria 59 0.038
375
ADN018 Adenoma 59 0.038
376
LPD008 Lipid Metabolism Disorder 58 0.038
377
ADL030 Adult-Onset Still's Disease 57 0.038
378
DSS008 Disease of Mental Health 55 0.038
379
MYC002 Mycobacterium Avium Complex Disease 51 0.038
380
SKN023 Skin Tag 46 0.038
381
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 39 0.038
382
VTM003 Vitamin Metabolic Disorder 33 0.038
383
RST001 Restless Legs Syndrome 54 0.037
384
CNR015 Cone-Rod Dystrophy 4 13 0.037
385
P APL001 Aplastic Anemia 73 0.036
386
P NMN002 Niemann-Pick Disease 63 0.036
387
CNN005 Connective Tissue Disease 61 0.036
388
P SPN052 Spondyloarthropathy 60 0.036
389
KRN002 Kearns-Sayre Syndrome 59 0.036
390
CHY002 Chylomicron Retention Disease 59 0.036
391
HMR004 Hemorrhagic Fever with Renal Syndrome 57 0.036
392
NRN004 Neuroendocrine Tumor 54 0.036
393
HDC001 Headache 54 0.036
394
P PYL005 Pyelonephritis 52 0.036
395
LKC003 Leukocyte Disease 47 0.036
396
BNN003 Bone Inflammation Disease 46 0.036
397
CRD137 Cardiogenic Shock 46 0.036
398
c MTR002 Mitral Valve Insufficiency 44 0.036
399
ANC002 Anca-Associated Vasculitis 41 0.036
400
MCP033 Mucopolysaccharidoses 39 0.036
401
c RTN043 Retinitis Pigmentosa 13 28 0.036
402
P MLT019 Multiple Myeloma 80 0.036
403
ACH004 Achondroplasia 66 0.036
404
P ENC018 Encephalopathy 59 0.036
405
ALP001 Alopecia Universalis 57 0.036
406
P NPH005 Nephronophthisis 55 0.036
407
DWR001 Dwarfism 46 0.036
408
AST006 Astigmatism 44 0.036
409
MYC033 Myoclonus 41 0.036
410
RTN175 Retinitis Pigmentosa 7 and Digenic 33 0.036
411
P SCH017 Schindler Disease 31 0.036
412
TST021 Testicular Germ Cell Tumor 70 0.034
413
P LPR003 Leprosy 68 0.034
414
DWN001 Down Syndrome 65 0.034
415
P HYP117 Hypertriglyceridemia 65 0.034
416
LYM017 Lyme Disease 63 0.034
417
GLB001 Gilbert Syndrome 61 0.034
418
P CTS001 Cutis Laxa 59 0.034
419
c SRC025 Sarcoidosis 1 58 0.034
420
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.034
421
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.034
422
P PNM006 Pneumoconiosis 51 0.034
423
LPR001 Lepromatous Leprosy 49 0.034
424
P SCL015 Scleritis 49 0.034
425
c HMG003 Hemoglobin E Disease 44 0.034
426
P PRL003 Proliferative Glomerulonephritis 43 0.034
427
NVS001 Neovascular Glaucoma 43 0.034
428
ADR009 Adrenal Cortex Disease 41 0.034
429
URT008 Urticaria Pigmentosa 38 0.034
430
ATM012 Autoimmune Disease of Blood 37 0.034
431
GLD003 Goldmann-Favre Syndrome 20 0.034
432
c CTR157 Cataract 28 20 0.034
433
c IDP066 Idiopathic Macular Telangiectasia Type 3 7 0.034
434
STR067 Stroke, Ischemic 77 0.034
435
FBR012 Fabry Disease 69 0.034
436
P CHR071 Charcot-Marie-Tooth Disease 66 0.034
437
P BRD002 Bardet-Biedl Syndrome 62 0.034
438
GNG013 Gingivitis 60 0.034
439
STR026 Star Syndrome 56 0.034
440
CHN016 Cohen Syndrome 55 0.034
441
c PND001 Pain Disorder 55 0.034
442
P MTC069 Mitochondrial Disorders 52 0.034
443
BCK006 Back Pain 42 0.034
444
VGN023 Vaginitis 42 0.034
445
P AST005 Asthma 82 0.033
446
PRT036 Peritonitis 62 0.033
447
TXC005 Toxic Shock Syndrome 61 0.033
448
c GLY008 Glycogen Storage Disease Ii 61 0.033
449
P INT068 Intestinal Disease 61 0.033
450
ANR002 Aniridia 60 0.033
451
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 58 0.033
452
P PLY018 Polycythemia 57 0.033
453
c VRL007 Viral Encephalitis 54 0.033
454
PRC013 Pericarditis 52 0.033
455
BCT002 Bacterial Vaginosis 51 0.033
456
ADR038 Adermatoglyphia 48 0.033
457
P CRN028 Corneal Ulcer 46 0.033
458
STP004 Staphylococcal Toxic Shock Syndrome 43 0.033
459
c VRL005 Viral Pneumonia 42 0.033
460
EYL005 Eyelid Disease 42 0.033
461
c HYP072 Hypersensitivity Reaction Type Iii Disease 41 0.033
462
NPH004 Nephropathia Epidemica 40 0.033
463
ART110 Arteritic Anterior Ischemic Optic Neuropathy 32 0.033
464
c AST037 Asthma 1 31 0.033
465
CLR033 Color Vision Deficiency 29 0.033
466
ADR023 Adrenomyodystrophy 24 0.033
467
VSC009 Vascular Skin Disease 22 0.033
468
c CRN176 Coronary Heart Disease 9 20 0.033
469
P ALZ034 Alzheimer Disease 93 0.032
470
P RNL014 Renal Cell Carcinoma 81 0.032
471
P MNN013 Meningitis 65 0.032
472
P ANT006 Antiphospholipid Syndrome 58 0.032
473
RHM027 Rheumatic Disease 57 0.032
474
BRN071 Brain Injury 52 0.032
475
PRC012 Pericardial Effusion 50 0.032
476
c HRD026 Hereditary Ataxia 47 0.032
477
ATN005 Autonomic Dysfunction 45 0.032
478
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 44 0.032
479
EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 41 0.032
480
SPN050 Spinocerebellar Degeneration 37 0.032
481
OCL048 Oculoauricular Syndrome 27 0.032
482
c LBR008 Leber Congenital Amaurosis 13 24 0.032
483
P ENC004 Encephalitis 61 0.030
484
P ALP009 Alopecia Areata 61 0.030
485
JNT002 Joint Disorders 56 0.030
486
RDC002 Radiculopathy 53 0.030
487
P ANG015 Angioedema 53 0.030
488
TRM010 Traumatic Brain Injury 52 0.030
489
CHK001 Chikungunya 50 0.030
490
P SNR012 Senior-Loken Syndrome-1 49 0.030
491
P FTL009 Fetal Akinesia Deformation Sequence 49 0.030
492
CRN027 Corneal Neovascularization 48 0.030
493
DVR002 Diverticulitis 47 0.030
494
FSC004 Fasciitis 46 0.030
495
DNN001 Danon Disease 45 0.030
496
STR072 Stromal Keratitis 45 0.030
497
OCL001 Ocular Albinism 43 0.030
498
SYS003 Systolic Heart Failure 43 0.030
499
EGG001 Egg Allergy 42 0.030
500
c HRD088 Hereditary Neuropathies 41 0.030
501
SPN369 Spinal Disease 41 0.030
502
c PRM015 Primary Cerebellar Degeneration 37 0.030
503
C6D001 C6 Deficiency 36 0.030
504
PNC032 Pancoast Tumor 34 0.030
505
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 34 0.030
506
c SCH069 Schindler Disease, Type I 32 0.030
507
c ATS307 Autosomal Recessive Cerebellar Ataxia 29 0.030
508
c RTN150 Retinitis Pigmentosa 10 29 0.030
509
c RTN044 Retinitis Pigmentosa 14 27 0.030
510
c RTN131 Retinitis Pigmentosa 27 27 0.030
511
c LBR007 Leber Congenital Amaurosis 12 26 0.030
512
c RTN065 Retinitis Pigmentosa 36 26 0.030
513
c RTN159 Retinitis Pigmentosa 45 25 0.030
514
c RTN067 Retinitis Pigmentosa 41 24 0.030
515
CNT067 Central Cord Syndrome 24 0.030
516
c RTN157 Retinitis Pigmentosa 37 24 0.030
517
c RTN171 Retinitis Pigmentosa 59 23 0.030
518
c RTN142 Retinitis Pigmentosa 38 22 0.030
519
FML292 Familial Drusen 22 0.030
520
c RTN117 Retinitis Pigmentosa 57 22 0.030
521
c CRN172 Coronary Heart Disease 3 21 0.030
522
P CRN211 Coronary Artery Disease 75 0.030
523
CHD001 Chediak-Higashi Syndrome 64 0.030
524
LPT001 Leptospirosis 63 0.030
525
P NRV006 Nervous System Cancer 62 0.030
526
RCT015 Reactive Arthritis 62 0.030
527
CHG001 Chagas Disease 62 0.030
528
TYP007 Typhoid Fever 61 0.030
529
P TXP001 Toxoplasmosis 60 0.030
530
ALC006 Alcoholic Hepatitis 59 0.030
531
PRP030 Purpura 59 0.030
532
c RHM021 Rheumatoid Arthritis, Systemic Juvenile 58 0.030
533
BRN012 Bronchiolitis Obliterans 58 0.030
534
P BRN009 Burning Mouth Syndrome 57 0.030
535
WLL006 Wells Syndrome 56 0.030
536
DMY004 Demyelinating Disease 55 0.030
537
P MLT074 Multiple Endocrine Neoplasia 55 0.030
538
IMG001 Image Syndrome 55 0.030
539
SLC006 Silicosis 53 0.030
540
P PNC001 Pancytopenia 52 0.030
541
TRY001 Trypanosomiasis 52 0.030
542
MCN007 Meconium Aspiration Syndrome 51 0.030
543
THY030 Thyroid Gland Disease 51 0.030
544
CYT008 Cytomegalovirus Infection 51 0.030
545
BRN004 Brain Edema 51 0.030
546
c VRL012 Viral Meningitis 50 0.030
547
PRP021 Peripheral Nervous System Neoplasm 50 0.030
548
c MCR113 Microvascular Complications of Diabetes 3 49 0.030
549
LMB062 Limb Ischemia 48 0.030
550
P TRN034 Transverse Myelitis 48 0.030
551
CRN017 Coronary Thrombosis 48 0.030
552
CHR005 Chorioamnionitis 48 0.030
553
SXL003 Sexual Disorder 47 0.030
554
P PLN008 Peeling Skin Syndrome 47 0.030
555
ELS001 Eales Disease 46 0.030
556
IDP064 Idiopathic Neutropenia 45 0.030
557
DNG001 Dengue Shock Syndrome 43 0.030
558
STR077 Streptococcal Toxic-Shock Syndrome 41 0.030
559
DNT008 Denture Stomatitis 39 0.030
560
EXT035 Extrinsic Cardiomyopathy 39 0.030
561
STC004 Stachybotrys Chartarum 37 0.030
562
CCN007 Cocoon Syndrome 35 0.030
563
PPL019 Papillary Conjunctivitis 34 0.030
564
HYP084 Hypopyon 30 0.030
565
PNC059 Punctate Inner Choroidopathy 26 0.030
566
c MCR122 Microphthalmia, Isolated 5 25 0.030
567
c DLT001 Delta Chain Disease 16 0.030
568
ORL014 Oral Pharyngeal Disorders 14 0.030
569
EYL004 Eyelid Degenerative Disease 12 0.030
570
TNG009 Tongue Squamous Cell Carcinoma 74 0.027
571
CMP005 Campomelic Dysplasia 72 0.027
572
P WSK001 Wiskott-Aldrich Syndrome 72 0.027
573
c HPT001 Hepatitis C 68 0.027
574
P CWD006 Cowden Syndrome 1 68 0.027
575
P MYL005 Myelofibrosis 67 0.027
576
P CNJ013 Conjunctivitis 65 0.027
577
BRC012 Brucellosis 65 0.027
578
MTH009 Mouth Disease 63 0.027
579
P HMP002 Hemophagocytic Lymphohistiocytosis 63 0.027
580
P FML161 Familial Mediterranean Fever, Ar 63 0.027
581
P ART023 Arthropathy 63 0.027
582
PLY125 Polycythemia Vera, Somatic 63 0.027
583
BRS051 Breast Disease 62 0.027
584
GST092 Gastroesophageal Reflux 61 0.027
585
TKY002 Takayasu Arteritis 60 0.027
586
LGN002 Legionellosis 59 0.027
587
ING001 Inguinal Hernia 57 0.027
588
ORL015 Oral Squamous Cell Carcinoma 56 0.027
589
THR004 Thrombocytosis 55 0.027
590
PLY056 Polyposis, Juvenile Intestinal 55 0.027
591
TTH002 Tooth Agenesis 55 0.027
592
LST001 Listeriosis 54 0.027
593
P PRP019 Peripheral Nervous System Disease 54 0.027
594
P MST009 Mastocytosis 54 0.027
595
FDL002 Food Allergy 54 0.027
596
P END033 Endocarditis 52 0.027
597
HNT002 Hantavirus Pulmonary Syndrome 51 0.027
598
SMT008 Smith-Magenis Syndrome 51 0.027
599
c ACT068 Acute Cystitis 50 0.027
600
PLR008 Pleurisy 50 0.027
601
CYS008 Cystic Echinococcosis 50 0.027
602
THR013 Thoracic Outlet Syndrome 49 0.027
603
MYL001 Myelitis 48 0.027
604
CNT046 Central Nervous System Vasculitis 47 0.027
605
CRY004 Cryoglobulinemia 47 0.027
606
SPC010 Speech and Communication Disorders 46 0.027
607
ACT058 Active Peptic Ulcer Disease 46 0.027
608
HDR003 Hidradenitis 46 0.027
609
P AFB001 Afibrinogenemia 46 0.027
610
SNS023 Sensory System Cancer 46 0.027
611
EPT020 Epithelioid Hemangioendothelioma 45 0.027
612
c HYP073 Hypersensitivity Reaction Type Iv Disease 45 0.027
613
P BLP003 Blepharospasm 44 0.027
614
MSN001 Mesangial Proliferative Glomerulonephritis 43 0.027
615
PLC001 Placenta Accreta 43 0.027
616
URM005 Uremic Pruritus 42 0.027
617
c ACT159 Acute Transverse Myelitis 42 0.027
618
GND001 Gonadoblastoma 42 0.027
619
CRP010 Corpus Callosum Agenesis 40 0.027
620
PGM005 Pigment Dispersion Syndrome 39 0.027
621
FNS001 Funisitis 38 0.027
622
MCR019 Microglandular Adenosis 38 0.027
623
c CTR130 Cataract 9, Multiple Types 37 0.027
624
c INT059 Internal Hemorrhoid 36 0.027
625
PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 36 0.027
626
PRP080 Peripheral Artery Disease 36 0.027
627
BGS001 Bagassosis 33 0.027
628
MYC026 Myoclonus Epilepsy 33 0.027
629
MLN011 Malonyl-Coa Decarboxylase Deficiency 32 0.027
630
c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 31 0.027
631
MTP028 Metaphyseal Dysplasia, Spahr Type 31 0.027
632
DNC004 Diencephalic Syndrome 28 0.027
633
c BRD017 Bardet-Biedl Syndrome 5 27 0.027
634
HRD019 Hereditary Choroidal Atrophy 24 0.027
635
ARG004 Argyria 19 0.027
636
c RLB001 Rlbp1-Related Fundus Albipunctatus 15 0.027
637
CRN073 Coronary Arteries Congenital Malformation 13 0.027
638
MRT009 Martinique Crinkled Retinal Pigment Epitheliopathy 6 0.027
639
P CLR023 Colorectal Cancer 97 0.023
640
ULC004 Ulcerative Colitis 75 0.023
641
TBR010 Tuberculosis 69 0.023
642
ISC006 Ischemic Heart Disease 68 0.023
643
P ESS003 Essential Thrombocythemia 68 0.023
644
P KDN017 Kidney Cancer 67 0.023
645
OTT002 Otitis Media 66 0.023
646
ART005 Arteriovenous Malformation 65 0.023
647
CHR066 Chronic Fatigue Syndrome 64 0.023
648
P SPN301 Spinocerebellar Ataxia 2 63 0.023
649
DNG002 Dengue Hemorrhagic Fever 62 0.023
650
APH001 Aphthous Stomatitis 62 0.023
651
PLM129 Pulmonary Disease, Chronic Obstructive 62 0.023
652
SKN019 Skin Melanoma 62 0.023
653
MCK007 Muckle-Wells Syndrome 61 0.023
654
TNG002 Tangier Disease 61 0.023
655
P GST049 Gastrointestinal System Cancer 60 0.023
656
APP008 Appendicitis 60 0.023
657
c ATM010 Autoimmune Hemolytic Anemia 60 0.023
658
GST045 Gastroenteritis 60 0.023
659
SPT004 Septic Arthritis 59 0.023
660
c CNT035 Central Nervous System Disease 59 0.023
661
P CMR001 Camurati-Engelmann Disease 59 0.023
662
OST017 Osteomyelitis 59 0.023
663
MRB003 Morbid Obesity 58 0.023
664
INT066 Interstitial Lung Disease 58 0.023
665
LYM021 Lymphadenitis 58 0.023
666
BLL006 Bullous Pemphigoid 58 0.023
667
TNS005 Tonsillitis 58 0.023
668
ART111 Artery Disease 57 0.023
669
c SVR001 Severe Acute Respiratory Syndrome 57 0.023
670
IDP011 Idiopathic Interstitial Pneumonia 57 0.023
671
SPT005 Spotted Fever 56 0.023
672
BRN002 Bronchiolitis 56 0.023
673
PRS047 Prostatitis 56 0.023
674
CNC002 Cinca Syndrome 56 0.023
675
P GRS014 Griscelli Syndrome, Type 2 55 0.023
676
CRT016 Carotid Artery Disease 55 0.023
677
P MNC007 Monocytic Leukemia 55 0.023
678
PTT006 Pituitary Adenoma 55 0.023
679
c ANG041 Angioedema, Hereditary, Types I and Ii 55 0.023
680
c BCT007 Bacterial Meningitis 54 0.023
681
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 54 0.023
682
GRF001 Graft-Versus-Host Disease, Protection Against 54 0.023
683
PLM012 Pulmonary Sarcoidosis 54 0.023
684
THR009 Thrombocytopenia-Absent Radius Syndrome 54 0.023
685
P VNS003 Venous Insufficiency 53 0.023
686
RSC001 Rosacea 53 0.023
687
ECH003 Echinococcosis 53 0.023
688
CNG008 Congenital Ichthyosiform Erythroderma 53 0.023
689
DRG003 Drug Dependence 53 0.023
690
P CYS018 Cystitis 53 0.023
691
BNM001 Bone Marrow Cancer 52 0.023
692
END030 End Stage Renal Failure 52 0.023
693
NRN005 Neuronal Ceroid-Lipofuscinoses 52 0.023
694
KRT006 Keratoconjunctivitis 52 0.023
695
P LCT001 Lactic Acidosis 52 0.023
696
CRN036 Craniopharyngioma 52 0.023
697
UTR024 Uterine Carcinosarcoma 52 0.023
698
SRS001 Serous Cystadenocarcinoma 52 0.023
699
IRN001 Iron Deficiency Anemia 51 0.023
700
CLR030 Clear Cell Renal Cell Carcinoma 51 0.023
701
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 51 0.023
702
ASP003 Aseptic Meningitis 51 0.023
703
CCT002 Cicatricial Pemphigoid 51 0.023
704
CRN030 Coronary Stenosis 50 0.023
705
SPN051 Spondylitis 50 0.023
706
c SCN036 Secondary Progressive Multiple Sclerosis 50 0.023
707
PLC005 Placental Insufficiency 50 0.023
708
IMP005 Impotence 50 0.023
709
HRT007 Heart Cancer 50 0.023
710
CSY001 C Syndrome 49 0.023
711
CHR001 Churg-Strauss Syndrome 49 0.023
712
c VNT013 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 49 0.023
713
ILT001 Ileitis 49 0.023
714
FML039 Female Reproductive System Disease 48 0.023
715
UPP004 Upper Respiratory Tract Disease 48 0.023
716
PST062 Pustulosis Palmaris Et Plantaris 47 0.023
717
CRD118 Cardiovascular Cancer 47 0.023
718
SYS034 Systemic Onset Juvenile Idiopathic Arthritis 47 0.023
719
PLP001 Pulpitis 47 0.023
720
PLR001 Pleural Tuberculosis 47 0.023
721
MXD023 Mixed Cell Type Cancer 47 0.023
722
RLP003 Relapsing Fever 46 0.023
723
c THR103 Thrombocytopenia, Congenital Amegakaryocytic 46 0.023
724
DBW001 Dubowitz Syndrome 46 0.023
725
PRR002 Pure Red-Cell Aplasia 46 0.023
726
CYS014 Cystadenocarcinoma 46 0.023
727
c ACT042 Acute Pyelonephritis 46 0.023
728
c CNG415 Congenital Disorder of Glycosylation, Type Ia 45 0.023
729
c CHR095 Chronic Progressive External Ophthalmoplegia 45 0.023
730
GDS001 Good Syndrome 45 0.023
731
LNG017 Lung Giant Cell Carcinoma 45 0.023
732
HMP009 Haemophilus Influenzae 45 0.023
733
EPD006 Epidermolysis Bullosa Acquisita 45 0.023
734
PRN019 Perinatal Necrotizing Enterocolitis 44 0.023
735
ATX003 Ataxia with Isolated Vitamin E Deficiency 44 0.023
736
CRT015 Carotid Artery Occlusion 43 0.023
737
NSS002 Neisseria Meningitidis Infection 43 0.023
738
HYP088 Hyper-Igd Syndrome 43 0.023
739
PRM025 Primary Bacterial Infectious Disease 43 0.023
740
EPS023 Epstein-Barr Virus-Associated Gastric Carcinoma 43 0.023
741
LGH004 Light Chain Deposition Disease 42 0.023
742
c PRM225 Primary Thrombocytopenia 42 0.023
743
OPP002 Opportunistic Mycosis 42 0.023
744
LSB001 Louse-Borne Relapsing Fever 42 0.023
745
SPN119 Spondylarthropathy 41 0.023
746
NRS003 Neurosyphilis 41 0.023
747
c HYP011 Hyperlipoproteinemia Type Iii 41 0.023
748
P ACQ009 Acquired Metabolic Disease 41 0.023
749
HYP540 Hypertension, Diastolic 41 0.023
750
MYC013 Mycobacterium Abscessus 40 0.023
751
c HRD015 Hereditary Night Blindness 40 0.023
752
c ALP073 Alport Syndrome, Autosomal Recessive 40 0.023
753
P CNG024 Congenital Nystagmus 40 0.023
754
GLC011 Galactose Epimerase Deficiency 40 0.023
755
MCR225 Macrophage Activation Syndrome 40 0.023
756
RHM009 Rheumatoid Lung Disease 40 0.023
757
CMP009 Complement Deficiency 39 0.023
758
AML001 Amelanotic Melanoma 39 0.023
759
c INH004 Inherited Blood Coagulation Disease 39 0.023
760
P GST047 Gastrointestinal Neuroendocrine Tumor 39 0.023
761
NSY001 N Syndrome 39 0.023
762
VSC012 Vesiculobullous Skin Disease 39 0.023
763
LKS001 Leukostasis 39 0.023
764
C1N001 C1 Inhibitor Deficiency 39 0.023
765
EXC003 Excessive Tearing 38 0.023
766
CHL122 Cholesteatoma of Middle Ear 38 0.023
767
ACT060 Acute Vascular Insufficiency of Intestine 38 0.023
768
c ALP074 Alport Syndrome, Autosomal Dominant 38 0.023
769
PSD008 Pseudopapilledema 38 0.023
770
PLS010 Plasma Protein Metabolism Disease 38 0.023
771
HRP025 Herpes Simplex Virus Keratitis 37 0.023
772
PRP056 Porphyria, Acute Hepatic 37 0.023
773
BRN105 Burn Scar 37 0.023
774
LCH004 Lichen Disease 36 0.023
775
P HRT017 Heart Tumor 35 0.023
776
END045 Endometriosis of Uterus 35 0.023
777
LCH003 Lichen Nitidus 35 0.023
778
c ACQ012 Acquired Angioedema 34 0.023
779
CRY008 Cryopyrin-Associated Periodic Syndrome 34 0.023
780
EXT001 Extragonadal Seminoma 34 0.023
781
VSC016 Vasculopathy, Retinal, with Cerebral Leukodystrophy 34 0.023
782
c PLN017 Peeling Skin Syndrome 1 33 0.023
783
MCR001 Microcystic Meningioma 33 0.023
784
DBT090 Diabetes and Deafness, Maternally Inherited 33 0.023
785
c CTR145 Cataract 44 33 0.023
786
P SPL050 Split Hand-Split Foot Malformation 32 0.023
787
P SPL037 Split Hand Foot Malformation 32 0.023
788
CRB031 Cerebral Arterial Disease 31 0.023
789
PHY001 Physiological Polycythemia 31 0.023
790
P BRT040 Baraitser-Winter Syndrome 31 0.023
791
CRV030 Cervical Adenitis 31 0.023
792
SCR039 Scorpion Envenomation 31 0.023
793
MTH047 Methanol Poisoning 30 0.023
794
PSM001 Psammomatous Meningioma 29 0.023
795
EYC003 Eye Accommodation Disease 26 0.023
796
CHR595 Chromosome 10q23 Deletion Syndrome Juvenile Polyposis of Infancy, Included 25 0.023
797
HYP213 Hypomelanotic Disorder 21 0.023
798
ETH012 Ethylene Glycol Poisoning 20 0.023
799
KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 20 0.023
800
c ADL079 Adult Heart Tumor 19 0.023
801
BRT046 Baraitser-Winter Cerebrofrontofacial Syndrome 18 0.023
802
P HML047 Heimler Syndrome 1 18 0.023
803
c SNR016 Senior-Loken Syndrome 9 18 0.023
804
CHR490 Chromosome 10q23 Deletion Syndrome 12 0.023