Search results for macular dystrophy

761 hits were found for macular dystrophy

# Family MCID Name MIFTS Score
1
MCL002 Macular Corneal Dystrophy 49 7.611
2
c MCL066 Macular Dystrophy, Vitelliform, 2 43 6.455
3
BST007 Best Vitelliform Macular Dystrophy 33 5.746
4
c MCL060 Macular Dystrophy, Vitelliform, 3 38 5.340
5
P VTL001 Vitelliform Macular Dystrophy 38 4.904
6
MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 28 4.777
7
OCC002 Occult Macular Dystrophy 39 4.604
8
MCL027 Macular Dystrophy, Dominant Cystoid 36 4.540
9
HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 34 4.265
10
ECT046 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 27 4.183
11
P PTT054 Patterned Macular Dystrophy 22 4.081
12
P MCL035 Macular Dystrophy, Retinal, 2 25 3.915
13
MCL063 Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 16 3.738
14
c STR040 Stargardt Disease 3 25 3.634
15
c MCL059 Macular Dystrophy, Patterned, 1 25 3.532
16
SRS007 Sorsby Fundus Dystrophy 46 3.453
17
c MCL061 Macular Dystrophy, Vitelliform, 4 20 3.336
18
MCL017 Macular Dystrophy, Atypical Vitelliform 8 3.314
19
BLL017 Bullous Dystrophy, Hereditary Macular Type 16 3.029
20
JVN017 Juvenile Macular Degeneration and Hypotrichosis 10 3.024
21
c MCL056 Macular Dystrophy, Vitelliform, 5 20 2.998
22
c PTT055 Patterned Macular Dystrophy 3 23 2.951
23
MCL057 Macular Dystrophy with Central Cone Involvement 16 2.946
24
CNR014 Cone-Rod Dystrophy 16 26 2.944
25
c STR084 Stargardt Disease 1 52 2.915
26
c MCL026 Macular Dystrophy, Retinal, 3 16 2.656
27
MCL018 Macular Dystrophy, Concentric Annular 20 2.577
28
OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 19 2.402
29
CHR406 Choriodal Dystrophy, Central Areolar 2 18 2.354
30
STR046 Stargardt Macular Degeneration 29 2.315
31
CNR032 Cone-Rod Dystrophy 21 20 2.161
32
MSL002 Mousa Al Din Al Nassar Syndrome 7 2.087
33
P STR022 Stargardt Disease 56 2.078
34
BTT011 Butterfly-Shaped Pigment Dystrophy 24 1.916
35
c STR042 Stargardt Disease, Autosomal Recessive 18 1.881
36
c ABC008 Abca4-Related Stargardt Disease 1 11 1.836
37
c CNG137 Cngb3-Related Stargardt Disease 1 8 1.836
38
SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 16 1.719
39
c PRP044 Prph2-Related Adult-Onset Vitelliform Macular Dystrophy 6 1.488
40
RTN023 Retinitis 50 0.625
41
P MSC005 Muscular Dystrophy 65 0.559
42
RTN018 Retinal Disease 53 0.507
43
P RTN016 Retinal Degeneration 54 0.488
44
c MCL042 Macular Degeneration, Age-Related, 1 73 0.488
45
DBT006 Diabetic Macular Edema 47 0.486
46
EYD001 Eye Degenerative Disease 30 0.471
47
EYD002 Eye Disease 61 0.448
48
ETH011 Ethylmalonic Encephalopathy 56 0.438
49
MCL003 Macular Holes 41 0.437
50
c MCL043 Macular Degeneration, Age-Related, 2 32 0.426
51
CRN025 Corneal Dystrophy 42 0.401
52
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 41 0.355
53
GLB003 Globe Disease 32 0.338
54
P MYT002 Myotonic Dystrophy 48 0.332
55
c MCL040 Macular Degeneration, Age-Related, 3 33 0.332
56
MCL006 Macular Retinal Edema 38 0.327
57
END072 Endotheliitis 42 0.306
58
c MCR115 Microvascular Complications of Diabetes 5 57 0.301
59
CHR008 Choroiditis 44 0.298
60
c MCL038 Macular Degeneration, Age-Related, 4 26 0.295
61
RTN020 Retinal Vascular Disease 48 0.274
62
P CTR002 Cataract 58 0.261
63
c MCL051 Macular Degeneration, Age-Related, 12 24 0.255
64
c MCL036 Macular Degeneration, Age-Related, 6 26 0.247
65
RTN017 Retinal Detachment 56 0.234
66
P RTN008 Retinitis Pigmentosa 80 0.222
67
ALN001 Aland Island Eye Disease 45 0.218
68
P LMB006 Limb-Girdle Muscular Dystrophy 51 0.213
69
KHN001 Kuhnt-Junius Degeneration 37 0.208
70
c MCL065 Macular Degeneration, Age-Related, 15 23 0.207
71
CNR002 Cone-Rod Dystrophy 64 0.199
72
c MCL064 Macular Degeneration, Age-Related 5 26 0.191
73
P MYP004 Myopathy 67 0.184
74
P AMY004 Amyloidosis 65 0.177
75
UVL003 Uveal Diseases 18 0.173
76
PRP026 Peripheral Retinal Degeneration 34 0.171
77
c MCL039 Macular Degeneration, Age-Related, 8 26 0.167
78
P RTN025 Retinoschisis 58 0.167
79
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 43 0.166
80
VND001 Vein Disease 47 0.165
81
P UVT001 Uveitis 58 0.160
82
FND002 Fundus Dystrophy 46 0.160
83
CHR079 Choroid Disease 34 0.157
84
THR024 Thrombosis 57 0.157
85
PGM003 Pigmentation Disease 39 0.156
86
CND005 Cone Dystrophy 39 0.152
87
ALR002 Al-Raqad Syndrome 36 0.151
88
CTS003 Coats Disease 57 0.151
89
P MYP006 Myopia 56 0.149
90
MCL047 Macular Amyloidosis 24 0.144
91
P NRP001 Neuropathy 59 0.141
92
c THR092 Thrombophilia Due to Thrombin Defect 54 0.141
93
HPT074 Hepatic Adenoma, Somatic 50 0.134
94
c OPT055 Optic Atrophy Plus Syndrome 52 0.132
95
HRD016 Hereditary Retinal Dystrophy 36 0.131
96
LNS003 Lens Disease 33 0.131
97
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.129
98
c MCL044 Macular Degeneration, Age-Related, 9 23 0.129
99
RDN001 Reading Disorder 34 0.128
100
HNM002 Hinman Syndrome 25 0.128
101
c MCL041 Macular Degeneration, Age-Related, 7 40 0.127
102
PRP027 Peripheral Vascular Disease 68 0.124
103
ADT003 Auditory System Disease 40 0.120
104
MSC004 Muscle Tissue Disease 34 0.115
105
P XLN007 X-Linked Disease 34 0.115
106
P HYP087 Hypotrichosis 46 0.114
107
PHR003 Pharyngitis 56 0.111
108
c OPT053 Optic Atrophy 1 43 0.110
109
CNT060 Central Serous Chorioretinopathy 41 0.108
110
P ATX004 Ataxia 53 0.108
111
ISC004 Ischemia 61 0.106
112
OPT006 Optic Nerve Disease 52 0.106
113
SCT002 Scotoma 40 0.105
114
ACD009 Acid-Labile Subunit, Deficiency of 45 0.105
115
VSC007 Vascular Disease 67 0.104
116
FST001 Foster-Kennedy Syndrome 31 0.104
117
P KRT007 Keratoconus 48 0.104
118
ABL002 Ablepharon-Macrostomia Syndrome 57 0.103
119
ACR041 Acromelic Frontonasal Dysostosis 45 0.103
120
BRT030 Birth Defects 43 0.103
121
AND005 Androgen Insensitivity Syndrome, Mild 16 0.102
122
c OPT023 Optic Atrophy 2 25 0.101
123
P PRM016 Primary Optic Atrophy 29 0.100
124
TLN003 Telangiectasis 52 0.097
125
P INF032 Infertility 59 0.097
126
P NRV007 Nervous System Disease 71 0.096
127
NWC001 Newcastle Disease 54 0.095
128
CRN024 Corneal Disease 44 0.094
129
MSM001 Meesmann Corneal Dystrophy 40 0.094
130
CVT001 Cavitary Optic Disc Anomalies 31 0.092
131
RTN006 Retinal Drusen 30 0.088
132
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.088
133
CNV002 Conversion Disorder 41 0.088
134
PPL023 Pupil Disease 23 0.087
135
MLT021 Multiple System Atrophy 70 0.085
136
CHR078 Chorioretinitis 40 0.085
137
c OPT025 Optic Atrophy 6 20 0.083
138
PHT003 Phototoxic Dermatitis 35 0.080
139
P ALP004 Alport Syndrome 69 0.079
140
EPD016 Epidermolysis Bullosa 57 0.078
141
MVM001 Movement Disease 49 0.078
142
P TRC086 Trichohepatoenteric Syndrome 1 48 0.078
143
RFR003 Refractive Error 43 0.076
144
PRR004 Preretinal Fibrosis 36 0.076
145
c STR054 Stargardt Disease 4 22 0.076
146
INC022 Inclusion-Cell Disease 46 0.076
147
CRB009 Cerebritis 39 0.076
148
P EPL164 Epilepsy 66 0.075
149
NRN002 Neuronitis 41 0.074
150
ADP007 Adie Pupil 34 0.074
151
CNR031 Cone-Rod Dystrophy, X-Linked, 1 26 0.074
152
ENH001 Enhanced S-Cone Syndrome 44 0.074
153
P FND001 Fundus Albipunctatus 55 0.074
154
CNR007 Cone-Rod Dystrophy 6 46 0.074
155
OCL009 Ocular Cancer 59 0.074
156
AMB002 Amblyopia 46 0.074
157
AYM001 Ayme-Gripp Syndrome 41 0.074
158
c PST005 Posterior Uveitis 46 0.073
159
RTN015 Retinal Cancer 49 0.073
160
P CRN026 Corneal Edema 42 0.073
161
ATN002 Autonomic Nervous System Disease 48 0.072
162
P ACR001 Aicardi-Goutieres Syndrome 54 0.072
163
LPD004 Lipoid Nephrosis 48 0.072
164
c LBR014 Leber Congenital Amaurosis 4 44 0.072
165
P ART022 Arthritis 75 0.071
166
ADM013 Adamantinoma of Long Bones 57 0.071
167
BRN106 Burns 52 0.070
168
ALL026 Allergic Hypersensitivity Disease 52 0.070
169
P HRT032 Heart Disease 75 0.070
170
OCL011 Ocular Motility Disease 37 0.070
171
c OPT059 Optic Atrophy 4 17 0.070
172
WTH001 Withdrawal Disorder 37 0.069
173
c TRC078 Trichohepatoenteric Syndrome 2 29 0.069
174
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 38 0.069
175
CNR005 Cone-Rod Dystrophy 3 33 0.069
176
P IDP065 Idiopathic Macular Telangiectasia Type 1 12 0.068
177
PCK002 Pick Disease 68 0.068
178
P SPS003 Spastic Diplegia 52 0.067
179
SLP005 Sleep Disorder 53 0.067
180
TTR016 Tetra-Amelia Syndrome 36 0.066
181
DSS010 Dissociative Disorder 32 0.066
182
DGN001 Degenerative Disc Disease 52 0.066
183
CHR081 Choroideremia 54 0.065
184
P FNC043 Fanconi Anemia, Complementation Group E 55 0.065
185
BLD054 Blood Protein Disease 37 0.065
186
RTN003 Retinal Ischemia 48 0.064
187
P BLD124 Bleeding Disorder, Platelet-Type, 11 40 0.064
188
P ATX010 Ataxia Neuropathy Spectrum 30 0.064
189
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 42 0.064
190
MLN008 Melanoma 62 0.064
191
P LBR001 Leber Congenital Amaurosis 61 0.063
192
CNR006 Cone-Rod Dystrophy 5 25 0.063
193
P RTN014 Retinal Artery Occlusion 44 0.063
194
GLC077 Glucocorticoid Therapy, Response to 16 0.063
195
CRN010 Corneal Granular Dystrophy 28 0.062
196
ALP008 Alopecia 57 0.062
197
THR100 Thrombocytopenic Purpura, Autoimmune 54 0.062
198
NRT004 Neuritis 52 0.062
199
c INT064 Intermediate Uveitis 52 0.062
200
RTN019 Retinal Telangiectasia 27 0.062
201
PRD011 Proud Syndrome 42 0.061
202
CNR013 Cone-Rod Dystrophy 12 23 0.061
203
P EXN002 Exanthem 57 0.061
204
ADJ001 Adjustment Disorder 38 0.061
205
MNK001 Menkes Disease 60 0.061
206
OCL006 Ocular Hypertension 48 0.061
207
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.061
208
P HPT021 Hepatitis 69 0.061
209
STR086 Stromal Dystrophy 28 0.061
210
SPS057 Spasticity 42 0.060
211
PLY023 Polycystic Liver Disease 56 0.060
212
CLD014 Cole Disease 37 0.060
213
ECT006 Ectodermal Dysplasia 52 0.059
214
KRT008 Keratopathy 44 0.059
215
P CRB042 Cerebellar Ataxia 63 0.059
216
DBT084 Diabetes Mellitus, Ketosis-Prone 47 0.059
217
BRD025 Birdshot Chorioretinopathy 47 0.059
218
NRR001 Neuroretinitis 42 0.059
219
CNR025 Cone-Rod Dystrophy 15 25 0.058
220
P MYS033 Miyoshi Muscular Dystrophy 1 42 0.058
221
CRN022 Corneal Degeneration 28 0.058
222
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 57 0.058
223
CND012 Cone Dystrophy 4 25 0.057
224
CRN046 Corneal Fleck Dystrophy 36 0.057
225
P ACH003 Achromatopsia 55 0.056
226
CND018 Cone Dystrophy-3 28 0.056
227
PPL021 Papilledema 47 0.056
228
CRB033 Cerebral Degeneration 44 0.056
229
PRS012 Pars Planitis 43 0.056
230
CNG034 Congestive Heart Failure 72 0.056
231
CNR021 Cone-Rod Dystrophy 10 24 0.056
232
CNR024 Cone-Rod Dystrophy 13 23 0.056
233
CNR012 Cone-Rod Dystrophy 11 20 0.056
234
P CLR019 Color Blindness 46 0.056
235
KRT004 Keratitis 71 0.055
236
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 26 0.055
237
CNR003 Cone-Rod Dystrophy 1 25 0.055
238
INC021 Incontinentia Pigmenti 59 0.055
239
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.055
240
BLL004 Bullous Keratopathy 44 0.055
241
CNR017 Cone-Rod Dystrophy 9 24 0.055
242
BLC001 Blue Cone Monochromacy 40 0.054
243
RTN035 Retinal Cone Dystrophy 3b 24 0.054
244
CNR016 Cone-Rod Dystrophy 7 29 0.054
245
CNR028 Cone-Rod Dystropy, X-Linked, 3 22 0.054
246
c RTN162 Retinitis Pigmentosa 2 48 0.053
247
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 13 0.053
248
BLD053 Blood Platelet Disease 46 0.053
249
PHY002 Physical Disorder 43 0.053
250
P BLD051 Blood Coagulation Disease 42 0.053
251
P SLP006 Sleep Apnea 61 0.053
252
CNR023 Cone-Rod Dystrophy 8 17 0.053
253
P OBS005 Obesity 92 0.053
254
P MCR010 Microcephaly 58 0.053
255
BTH002 Bothnia Retinal Dystrophy 21 0.053
256
P HYP086 Hypothyroidism 64 0.052
257
c RTN058 Retinitis Pigmentosa 3 44 0.052
258
P NGH001 Night Blindness 48 0.051
259
IRS003 Iris Disease 31 0.051
260
BSL037 Basal Laminar Drusen 30 0.051
261
P UVL004 Uveal Melanoma 60 0.051
262
P PLY019 Polyneuropathy 56 0.050
263
P RSP003 Respiratory Failure 71 0.050
264
c RTN070 Retinitis Pigmentosa 9 35 0.050
265
ALB002 Albinism 46 0.050
266
P CRN178 Coronary Heart Disease 6 21 0.049
267
ATX038 Ataxia and Polyneuropathy, Adult-Onset 21 0.049
268
INS024 Insulin-Like Growth Factor I 75 0.049
269
c RTN172 Retinitis Pigmentosa 1 43 0.049
270
RTN084 Retinal Cone Dystrophy 3 26 0.048
271
P USH001 Usher Syndrome 53 0.048
272
SKN016 Skin Disease 66 0.048
273
IRD003 Iridocorneal Endothelial Syndrome 24 0.048
274
ATS010 Autosomal Recessive Disease 41 0.048
275
c HMG001 Hemoglobin C Disease 47 0.048
276
P HMR003 Hemorrhagic Disease 57 0.047
277
HYP266 Hypoxia 56 0.047
278
ATR060 Atrial Standstill, Digenic 51 0.047
279
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.046
280
P THY032 Thyroiditis 54 0.046
281
SCH025 Schisis Association 19 0.046
282
OBS061 Obstructive Sleep Apnea 66 0.046
283
TTH006 Tooth Disease 52 0.046
284
ATS008 Autosomal Dominant Disease 39 0.046
285
NTR005 Nutritional Deficiency Disease 36 0.046
286
UND005 Undifferentiated Pleomorphic Sarcoma 44 0.045
287
SKN005 Skin Atrophy 40 0.045
288
P PTS002 Ptosis 51 0.045
289
CNR030 Cone-Rod Dystrophy 20 21 0.045
290
CNR026 Cone-Rod Dystrophy 18 18 0.045
291
CNR029 Cone-Rod Dystrophy 19 17 0.045
292
c SPN291 Spinocerebellar Ataxia 7 51 0.045
293
VSC006 Vascular Cancer 51 0.045
294
ATH003 Atherosclerosis 65 0.045
295
CNT098 Central Core Disease 65 0.045
296
c CHR579 Chiari Malformation Type Ii 37 0.045
297
HRD064 Hereditary Vascular Retinopathy 13 0.045
298
P ATR011 Atrial Fibrillation 66 0.044
299
P ICH004 Ichthyosis 52 0.044
300
RTN036 Retinal Cone Dystrophy 4 21 0.044
301
SWL001 Swallowing Disorders 33 0.044
302
SHW002 Shwachman-Diamond Syndrome 61 0.044
303
CHR167 Chorioretinal Atrophy, Progressive Bifocal 17 0.044
304
LRN003 Learning Disability 49 0.044
305
HMN009 Hemangioblastoma 45 0.044
306
ATM012 Autoimmune Disease of Blood 35 0.044
307
P DYS007 Dyskeratosis Congenita 63 0.043
308
SNS001 Sensorineural Hearing Loss 57 0.043
309
SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 16 0.043
310
P OST005 Osteogenesis Imperfecta 69 0.043
311
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 33 0.043
312
c CRN173 Coronary Heart Disease 8 18 0.043
313
P MDL005 Medulloblastoma 77 0.042
314
P LPS004 Lupus Erythematosus 64 0.042
315
KRN002 Kearns-Sayre Syndrome 61 0.042
316
KDS001 Kid Syndrome 53 0.042
317
P CNG010 Congenital Stationary Night Blindness 53 0.042
318
c LBR019 Leber Congenital Amaurosis 9 40 0.042
319
P SPS008 Spastic Ataxia 33 0.042
320
DMN002 Dementia 65 0.042
321
P SJG002 Sjogren-Larsson Syndrome 50 0.041
322
GLC008 Glucose Metabolism Disease 42 0.041
323
P HNT016 Huntington Disease 80 0.041
324
P PNM007 Pneumonia 68 0.041
325
P ANR002 Aniridia 64 0.041
326
P HMN010 Hemangioma 59 0.041
327
PLM010 Pulmonary Edema 54 0.041
328
P EXD001 Exudative Vitreoretinopathy 47 0.041
329
P SLL003 Salla Disease 43 0.041
330
MCR013 Microphthalmia 60 0.041
331
MRG013 Mirage Syndrome 29 0.041
332
P CRB088 Cerebral Atrophy 42 0.041
333
c SYS001 Systemic Lupus Erythematosus 86 0.040
334
P KDN018 Kidney Disease 66 0.040
335
CHL071 Child Syndrome 58 0.040
336
c ATS308 Autosomal Dominant Cerebellar Ataxia 48 0.040
337
CRN017 Coronary Thrombosis 48 0.040
338
SPC003 Specific Developmental Disorder 38 0.040
339
c AST039 Asthma 2 28 0.040
340
RSP006 Respiratory System Disease 58 0.039
341
KRT002 Keratomalacia 52 0.039
342
BND014 Bone Development Disease 40 0.039
343
P VTR010 Vitreoretinochoroidopathy 32 0.039
344
STR026 Star Syndrome 57 0.039
345
P ANT006 Antiphospholipid Syndrome 56 0.039
346
c RTN043 Retinitis Pigmentosa 13 40 0.039
347
BNS002 Bone Structure Disease 37 0.039
348
c RTN041 Retinitis Pigmentosa 11 33 0.039
349
EXF001 Exfoliation Syndrome 57 0.038
350
NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 53 0.038
351
DSS008 Disease of Mental Health 52 0.038
352
P STR020 Strabismus 51 0.038
353
c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 36 0.038
354
SKL014 Skeletal Dysplasia 46 0.038
355
SKL017 Skeletal Dysplasias 45 0.038
356
P AMY084 Amyloidosis, Finnish Type 42 0.038
357
CNR015 Cone-Rod Dystrophy 4 13 0.038
358
RTN032 Retinal Cone Dystrophy 1 12 0.038
359
STR067 Stroke, Ischemic 75 0.037
360
P APL001 Aplastic Anemia 75 0.037
361
ANR040 Aneurysm 57 0.037
362
NRN004 Neuroendocrine Tumor 56 0.037
363
MGL001 Megaloblastic Anemia 50 0.037
364
c RTN059 Retinitis Pigmentosa 30 34 0.037
365
DRM006 Dermatitis 66 0.037
366
ADN018 Adenoma 58 0.037
367
IMP005 Impotence 51 0.037
368
P HML001 Hemolytic-Uremic Syndrome 51 0.037
369
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 50 0.037
370
HLL004 Hellp Syndrome 50 0.037
371
INN002 Inner Ear Disease 49 0.037
372
P AFB001 Afibrinogenemia 48 0.037
373
THY030 Thyroid Gland Disease 48 0.037
374
SKN023 Skin Tag 44 0.037
375
c HMG003 Hemoglobin E Disease 44 0.037
376
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 38 0.037
377
VTM003 Vitamin Metabolic Disorder 30 0.037
378
P BRD002 Bardet-Biedl Syndrome 63 0.036
379
c JBR020 Joubert Syndrome 1 60 0.036
380
RST001 Restless Legs Syndrome 54 0.036
381
P NMN002 Niemann-Pick Disease 65 0.035
382
ETN001 Eating Disorder 58 0.035
383
SMT008 Smith-Magenis Syndrome 52 0.035
384
ADR038 Adermatoglyphia 46 0.035
385
MCP033 Mucopolysaccharidoses 39 0.035
386
SNL007 Senile Cataract 37 0.035
387
c CRN176 Coronary Heart Disease 9 18 0.035
388
P MLT019 Multiple Myeloma 83 0.035
389
P CHR071 Charcot-Marie-Tooth Disease 67 0.035
390
P ENC018 Encephalopathy 59 0.035
391
CHN016 Cohen Syndrome 54 0.035
392
MYC033 Myoclonus 42 0.035
393
P SCH017 Schindler Disease 31 0.035
394
RTN191 Retinal Dystrophy with or Without Extraocular Anomalies 9 0.035
395
DWN001 Down Syndrome 66 0.034
396
LPD008 Lipid Metabolism Disorder 58 0.034
397
URT039 Urticaria 57 0.034
398
MYC002 Mycobacterium Avium Complex Disease 52 0.034
399
NVS001 Neovascular Glaucoma 44 0.034
400
ADR009 Adrenal Cortex Disease 39 0.034
401
DGN003 Degeneration of Macula and Posterior Pole 32 0.034
402
LCH014 Lichen Amyloidosis 29 0.034
403
GLD003 Goldmann-Favre Syndrome 22 0.034
404
c CTR157 Cataract 28 18 0.034
405
c IDP066 Idiopathic Macular Telangiectasia Type 3 7 0.034
406
FBR012 Fabry Disease 69 0.033
407
P HYP069 Hyperparathyroidism 58 0.033
408
ALP001 Alopecia Universalis 58 0.033
409
P DST002 Distal Arthrogryposis 56 0.033
410
GLC003 Glucose Intolerance 55 0.033
411
P NPH005 Nephronophthisis 55 0.033
412
P MTC069 Mitochondrial Disorders 53 0.033
413
OST015 Osteochondrodysplasia 52 0.033
414
DWR001 Dwarfism 47 0.033
415
BCK006 Back Pain 43 0.033
416
VGN023 Vaginitis 42 0.033
417
P RST011 Restrictive Dermopathy, Lethal 41 0.033
418
CLP005 Ciliopathy 38 0.033
419
OCL048 Oculoauricular Syndrome 29 0.033
420
P CLR023 Colorectal Cancer 97 0.033
421
P AST005 Asthma 82 0.033
422
LPT001 Leptospirosis 62 0.033
423
P NRM001 Neuromyelitis Optica 60 0.033
424
P NRV006 Nervous System Cancer 60 0.033
425
c GLY008 Glycogen Storage Disease Ii 59 0.033
426
P PLY018 Polycythemia 58 0.033
427
PRP030 Purpura 58 0.033
428
SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 57 0.033
429
P MLT074 Multiple Endocrine Neoplasia 56 0.033
430
HDC001 Headache 54 0.033
431
LKC003 Leukocyte Disease 43 0.033
432
SXL003 Sexual Disorder 42 0.033
433
EYL005 Eyelid Disease 39 0.033
434
DBT090 Diabetes and Deafness, Maternally Inherited 33 0.033
435
HYP084 Hypopyon 31 0.033
436
CLR033 Color Vision Deficiency 29 0.033
437
c AST037 Asthma 1 28 0.033
438
ADR023 Adrenomyodystrophy 24 0.033
439
VSC009 Vascular Skin Disease 19 0.033
440
P ALZ034 Alzheimer Disease 92 0.031
441
P RNL014 Renal Cell Carcinoma 82 0.031
442
P NRF002 Neurofibromatosis 71 0.031
443
P FML011 Familial Adenomatous Polyposis 68 0.031
444
ACH004 Achondroplasia 66 0.031
445
P PSR002 Psoriasis 61 0.031
446
PLM033 Pulmonary Embolism 60 0.031
447
DSM004 Desmoid Tumor 56 0.031
448
c PND001 Pain Disorder 54 0.031
449
THR016 Thrombophlebitis 53 0.031
450
PRC012 Pericardial Effusion 51 0.031
451
RTC002 Reticular Dysgenesis 50 0.031
452
P FTL009 Fetal Akinesia Deformation Sequence 50 0.031
453
ATN005 Autonomic Dysfunction 49 0.031
454
AST006 Astigmatism 45 0.031
455
PRG004 Progeria 44 0.031
456
c HRD026 Hereditary Ataxia 44 0.031
457
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 44 0.031
458
c RTN150 Retinitis Pigmentosa 10 41 0.031
459
c HRD088 Hereditary Neuropathies 40 0.031
460
c RTN136 Retinitis Pigmentosa 44 37 0.031
461
SPN050 Spinocerebellar Degeneration 36 0.031
462
c RTN116 Retinitis Pigmentosa 56 31 0.031
463
c LBR008 Leber Congenital Amaurosis 13 24 0.031
464
P HPT023 Hepatocellular Carcinoma 92 0.029
465
TST021 Testicular Germ Cell Tumor 69 0.029
466
WRN001 Werner Syndrome 67 0.029
467
EWN003 Ewing Sarcoma 66 0.029
468
ACR007 Acromegaly 66 0.029
469
CHD001 Chediak-Higashi Syndrome 64 0.029
470
P THR014 Thrombocytopenia 64 0.029
471
CNN005 Connective Tissue Disease 62 0.029
472
MLN054 Melanocytic Nevus Syndrome, Congenital, Somatic 56 0.029
473
END030 End Stage Renal Failure 55 0.029
474
P VNS003 Venous Insufficiency 54 0.029
475
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 53 0.029
476
P PNC001 Pancytopenia 52 0.029
477
OPT037 Optic Nerve Hypoplasia 52 0.029
478
CRC006 Carcinoid Syndrome 52 0.029
479
OCL022 Ocular Melanoma 52 0.029
480
KMR001 Kimura Disease 50 0.029
481
IMG001 Image Syndrome 50 0.029
482
HYP037 Hyperhomocysteinemia 50 0.029
483
c TRC102 Trichothiodystrophy 1, Photosensitive 49 0.029
484
c MLG069 Malignant Hypertension 47 0.029
485
PRP021 Peripheral Nervous System Neoplasm 46 0.029
486
CVR006 Cavernous Hemangioma 46 0.029
487
P PLN008 Peeling Skin Syndrome 45 0.029
488
CCN007 Cocoon Syndrome 45 0.029
489
NSS002 Neisseria Meningitidis Infection 43 0.029
490
c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 42 0.029
491
GST078 Gastrointestinal Allergy 40 0.029
492
CMP009 Complement Deficiency 39 0.029
493
PRR013 Prurigo Nodularis 35 0.029
494
OPT010 Optic Papillitis 27 0.029
495
c MCR122 Microphthalmia, Isolated 5 26 0.029
496
c DLT001 Delta Chain Disease 13 0.029
497
ORL014 Oral Pharyngeal Disorders 11 0.029
498
EYL004 Eyelid Degenerative Disease 11 0.029
499
c MLT024 Multiple Endocrine Neoplasia Iia 64 0.029
500
TNG002 Tangier Disease 62 0.029
501
PRP019 Peripheral Nervous System Disease 55 0.029
502
THR004 Thrombocytosis 55 0.029
503
SDC002 Sed Congenita 53 0.029
504
OLV001 Olivopontocerebellar Atrophy 53 0.029
505
P ANG015 Angioedema 52 0.029
506
THR013 Thoracic Outlet Syndrome 50 0.029
507
P SNR012 Senior-Loken Syndrome-1 49 0.029
508
DNN001 Danon Disease 48 0.029
509
CRY004 Cryoglobulinemia 46 0.029
510
RGH009 Right Atrial Isomerism 44 0.029
511
CRD118 Cardiovascular Cancer 44 0.029
512
c MTR002 Mitral Valve Insufficiency 44 0.029
513
FBR019 Fibromatosis 43 0.029
514
FSH001 Fish-Eye Disease 43 0.029
515
SNS023 Sensory System Cancer 43 0.029
516
OCL001 Ocular Albinism 42 0.029
517
FCT008 Factitious Disorder 41 0.029
518
EGG001 Egg Allergy 41 0.029
519
c RTN142 Retinitis Pigmentosa 38 36 0.029
520
c LBR007 Leber Congenital Amaurosis 12 35 0.029
521
c RTN044 Retinitis Pigmentosa 14 34 0.029
522
c PRM015 Primary Cerebellar Degeneration 34 0.029
523
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 33 0.029
524
JBR005 Joubert Syndrome with Ocular Anomalies 32 0.029
525
c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 32 0.029
526
c SCH069 Schindler Disease, Type I 32 0.029
527
c RTN131 Retinitis Pigmentosa 27 30 0.029
528
c RTN171 Retinitis Pigmentosa 59 29 0.029
529
c RTN065 Retinitis Pigmentosa 36 28 0.029
530
c RTN067 Retinitis Pigmentosa 41 27 0.029
531
c RTN159 Retinitis Pigmentosa 45 27 0.029
532
c RTN157 Retinitis Pigmentosa 37 24 0.029
533
CNT067 Central Cord Syndrome 23 0.029
534
FML292 Familial Drusen 23 0.029
535
c RTN117 Retinitis Pigmentosa 57 22 0.029
536
c CRN172 Coronary Heart Disease 3 19 0.029
537
GST053 Gastric Cancer 78 0.026
538
P WSK001 Wiskott-Aldrich Syndrome 73 0.026
539
P ALG002 Alagille Syndrome 72 0.026
540
c MLT136 Multiple Endocrine Neoplasia 1 69 0.026
541
c HPT001 Hepatitis C 68 0.026
542
P MYL005 Myelofibrosis 67 0.026
543
P TBR001 Tuberous Sclerosis 67 0.026
544
c HRD010 Hereditary Spastic Paraplegia 67 0.026
545
PTR006 Peters Anomaly 65 0.026
546
PLY125 Polycythemia Vera, Somatic 63 0.026
547
P PRT010 Parathyroid Carcinoma 63 0.026
548
P THN009 Thanatophoric Dysplasia, Type I 63 0.026
549
P SPN052 Spondyloarthropathy 60 0.026
550
HJD001 Hajdu-Cheney Syndrome 59 0.026
551
c HYP615 Hyperparathyroidism, Familial Primary 56 0.026
552
c THR082 Thrombophilia Due to Activated Protein C Resistance 54 0.026
553
c AFB002 Afibrinogenemia, Congenital 54 0.026
554
P DBT005 Diabetes Insipidus 53 0.026
555
GTR002 Goiter 52 0.026
556
HNT002 Hantavirus Pulmonary Syndrome 51 0.026
557
IMM136 Immune System Disease 51 0.026
558
PSD012 Pseudoachondroplasia 51 0.026
559
c ART115 Aortic Valve Disease 1 50 0.026
560
ANG054 Angina Pectoris 50 0.026
561
PRP016 Paraplegia 49 0.026
562
PRT018 Portal Vein Thrombosis 49 0.026
563
PRT029 Parathyroid Adenoma 48 0.026
564
PRT030 Parathyroid Gland Disease 47 0.026
565
INT253 Intestinal Benign Neoplasm 47 0.026
566
CRD137 Cardiogenic Shock 46 0.026
567
c CNG415 Congenital Disorder of Glycosylation, Type Ia 45 0.026
568
P SDR002 Siderosis 44 0.026
569
PGM005 Pigment Dispersion Syndrome 44 0.026
570
SYS003 Systolic Heart Failure 43 0.026
571
c ALP073 Alport Syndrome, Autosomal Recessive 43 0.026
572
CRT015 Carotid Artery Occlusion 43 0.026
573
P BLP003 Blepharospasm 43 0.026
574
THY049 Thyroid Cancer, Anaplastic 42 0.026
575
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 42 0.026
576
SPC010 Speech and Communication Disorders 41 0.026
577
c BRD033 Bardet-Biedl Syndrome 13 41 0.026
578
OCL025 Ocular Toxoplasmosis 40 0.026
579
c BRD017 Bardet-Biedl Syndrome 5 39 0.026
580
c PRM225 Primary Thrombocytopenia 39 0.026
581
JBR006 Joubert Syndrome with Oculorenal Anomalies 39 0.026
582
c CLL012 Cell Type Benign Neoplasm 39 0.026
583
CRP010 Corpus Callosum Agenesis 38 0.026
584
c PSR017 Psoriasis 2 37 0.026
585
PRP080 Peripheral Artery Disease 37 0.026
586
c MYP079 Myopathy, Myofibrillar, 5 37 0.026
587
c INH004 Inherited Blood Coagulation Disease 36 0.026
588
INT078 Intracranial Thrombosis 36 0.026
589
P MYC026 Myoclonus Epilepsy 34 0.026
590
DNC004 Diencephalic Syndrome 33 0.026
591
P CHR084 Chromosomal Disease 32 0.026
592
MTP028 Metaphyseal Dysplasia, Spahr Type 31 0.026
593
c ATS307 Autosomal Recessive Cerebellar Ataxia 30 0.026
594
c DYS039 Dyskeratosis Congenita Autosomal Dominant 29 0.026
595
CHF001 Chief Cell Adenoma 25 0.026
596
18P001 18p Deletion Syndrome 22 0.026
597
ARG004 Argyria 20 0.026
598
CRN073 Coronary Arteries Congenital Malformation 10 0.026
599
P HMC003 Hemochromatosis 72 0.023
600
PTZ001 Peutz-Jeghers Syndrome 71 0.023
601
ADN021 Adenomatous Polyposis Coli 70 0.023
602
P ESS003 Essential Thrombocythemia 70 0.023
603
ISC006 Ischemic Heart Disease 68 0.023
604
P END044 Endometriosis 66 0.023
605
P KDN017 Kidney Cancer 65 0.023
606
DFC004 Deficiency Anemia 64 0.023
607
P PRP003 Porphyria Cutanea Tarda 64 0.023
608
CRB039 Cerebrovascular Disease 63 0.023
609
LPP001 Lipoprotein Lipase Deficiency 63 0.023
610
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 62 0.023
611
P HML002 Hemolytic Anemia 62 0.023
612
CNT047 Contact Dermatitis 61 0.023
613
BRS051 Breast Disease 61 0.023
614
MTH009 Mouth Disease 61 0.023
615
c ATM010 Autoimmune Hemolytic Anemia 60 0.023
616
c ACT075 Acute Myocardial Infarction 60 0.023
617
c CNT035 Central Nervous System Disease 60 0.023
618
CRN036 Craniopharyngioma 59 0.023
619
P PRP029 Porphyria 59 0.023
620
ART021 Arteriosclerosis 58 0.023
621
P CMR001 Camurati-Engelmann Disease 58 0.023
622
P MTR012 Mitral Valve Disease 58 0.023
623
MSM014 Mismatch Repair Cancer Syndrome 57 0.023
624
PBL001 Piebaldism 57 0.023
625
ACN002 Acanthosis Nigricans 57 0.023
626
CNG008 Congenital Ichthyosiform Erythroderma 56 0.023
627
PTT006 Pituitary Adenoma 56 0.023
628
INT002 Intermittent Claudication 56 0.023
629
P SPN301 Spinocerebellar Ataxia 2 56 0.023
630
c HRD002 Hereditary Angioedema 55 0.023
631
DBT010 Diabetic Neuropathy 55 0.023
632
P THR005 Thrombotic Thrombocytopenic Purpura 55 0.023
633
TTH002 Tooth Agenesis 54 0.023
634
CHK001 Chikungunya 54 0.023
635
P HYP027 Hypobetalipoproteinemia 53 0.023
636
SLC006 Silicosis 53 0.023
637
FDL002 Food Allergy 53 0.023
638
BRG013 Buerger Disease 53 0.023
639
P SYP003 Syphilis 53 0.023
640
CLR030 Clear Cell Renal Cell Carcinoma 53 0.023
641
P HLL001 Hallermann-Streiff Syndrome 53 0.023
642
DST005 Diastrophic Dysplasia 53 0.023
643
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 52 0.023
644
KRT006 Keratoconjunctivitis 52 0.023
645
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 52 0.023
646
PRC013 Pericarditis 51 0.023
647
BLL001 Baller-Gerold Syndrome 51 0.023
648
P GRS003 Griscelli Syndrome 51 0.023
649
BNM001 Bone Marrow Cancer 51 0.023
650
c GRS014 Griscelli Syndrome, Type 2 51 0.023
651
CRN030 Coronary Stenosis 51 0.023
652
c DSB006 Desbuquois Dysplasia 1 50 0.023
653
INT007 Intermediate Coronary Syndrome 50 0.023
654
P MLT007 Multiple Epiphyseal Dysplasia 50 0.023
655
PRP032 Porphyria Variegata 50 0.023
656
CSY001 C Syndrome 50 0.023
657
c HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 49 0.023
658
ERY017 Erythema Elevatum Diutinum 49 0.023
659
P RBN002 Robinow Syndrome 49 0.023
660
P OST009 Osteochondritis Dissecans 49 0.023
661
CHR001 Churg-Strauss Syndrome 49 0.023
662
HMG002 Hemoglobinuria 48 0.023
663
ACN001 Acinar Cell Carcinoma 48 0.023
664
ECT026 Ectopic Pregnancy 48 0.023
665
c ATS275 Autosomal Recessive Primary Microcephaly 48 0.023
666
c ANG041 Angioedema, Hereditary, Types I and Ii 48 0.023
667
c CNG021 Congenital Toxoplasmosis 48 0.023
668
P RNL015 Renal Hypertension 48 0.023
669
P RNV001 Renovascular Hypertension 47 0.023
670
PTT009 Pituitary Gland Disease 47 0.023
671
HMS001 Hemosiderosis 46 0.023
672
CRB025 Carbohydrate Metabolic Disorder 46 0.023
673
NDL007 Nodular Goiter 46 0.023
674
HRT007 Heart Cancer 46 0.023
675
c ACT078 Acute Porphyria 46 0.023
676
P HRD021 Hereditary Sensory Neuropathy 46 0.023
677
DST006 Diastolic Heart Failure 46 0.023
678
c THR103 Thrombocytopenia, Congenital Amegakaryocytic 45 0.023
679
P CRN028 Corneal Ulcer 45 0.023
680
CNJ012 Conjunctival Disease 44 0.023
681
c CHR095 Chronic Progressive External Ophthalmoplegia 44 0.023
682
DSM003 Desmoid Disease, Hereditary 44 0.023
683
c ACH035 Achondrogenesis Ib 43 0.023
684
RNL097 Renal Artery Disease 43 0.023
685
ART031 Aortic Coarctation 43 0.023
686
ACT058 Active Peptic Ulcer Disease 43 0.023
687
P DSB002 Desbuquois Dysplasia 43 0.023
688
c ALP074 Alport Syndrome, Autosomal Dominant 43 0.023
689
OLV002 Oliver Syndrome 43 0.023
690
PRD004 Prediabetes Syndrome 43 0.023
691
c HYP073 Hypersensitivity Reaction Type Iv Disease 43 0.023
692
VLV010 Vulvovaginitis 42 0.023
693
VNW006 Von Willebrand Disease, Types 2a, 2b, 2m, and 2n 42 0.023
694
P HVY001 Heavy Chain Disease 41 0.023
695
PRM025 Primary Bacterial Infectious Disease 41 0.023
696
MCR225 Macrophage Activation Syndrome 41 0.023
697
c SCN006 Secondary Syphilis 41 0.023
698
GLC011 Galactose Epimerase Deficiency 41 0.023
699
FTL021 Fetal Macrosomia 41 0.023
700
P CNG024 Congenital Nystagmus 40 0.023
701
c RBN018 Robinow Syndrome, Autosomal Dominant 1 40 0.023
702
P CNN004 Connective Tissue Cancer 40 0.023
703
CRT004 Carotid Artery Thrombosis 40 0.023
704
c GRS012 Griscelli Syndrome, Type 3 40 0.023
705
BMR001 Boomerang Dysplasia 40 0.023
706
P ARC016 Auriculocondylar Syndrome 1 40 0.023
707
P ACH011 Achondrogenesis 39 0.023
708
HYP540 Hypertension, Diastolic 39 0.023
709
c AMY009 Amyloidosis Aa 39 0.023
710
NRP016 Neuropathy, Recurrent, with Pressure Palsies 38 0.023
711
P ACQ009 Acquired Metabolic Disease 38 0.023
712
c HYP072 Hypersensitivity Reaction Type Iii Disease 38 0.023
713
C1N001 C1 Inhibitor Deficiency 38 0.023
714
BRN105 Burn Scar 37 0.023
715
DNS007 Dense Deposit Disease 37 0.023
716
c CNG031 Congenital Nervous System Abnormality 37 0.023
717
c CTR130 Cataract 9, Multiple Types 37 0.023
718
PRP056 Porphyria, Acute Hepatic 37 0.023
719
MCR019 Microglandular Adenosis 37 0.023
720
c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 36 0.023
721
P ATL001 Atelosteogenesis 36 0.023
722
EXC003 Excessive Tearing 36 0.023
723
TXC011 Toxocariasis 36 0.023
724
FCL011 Facial Nerve Disease 36 0.023
725
CLR014 Clear Cell Adenoma 35 0.023
726
c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 35 0.023
727
c PLN017 Peeling Skin Syndrome 1 34 0.023
728
LCH003 Lichen Nitidus 34 0.023
729
PLS010 Plasma Protein Metabolism Disease 34 0.023
730
FTL004 Fetal Erythroblastosis 33 0.023
731
END036 Endocrine Organ Benign Neoplasm 33 0.023
732
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 33 0.023
733
P SPL037 Split Hand Foot Malformation 33 0.023
734
P SPL050 Split Hand-Split Foot Malformation 33 0.023
735
CHR068 Chronic Nk-Cell Lymphocytosis 33 0.023
736
GGN002 Gigantism 32 0.023
737
P HRT017 Heart Tumor 32 0.023
738
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 32 0.023
739
MLT035 Multifocal Choroiditis 32 0.023
740
ORG010 Organ System Benign Neoplasm 31 0.023
741
c HMG004 Hemoglobin D Disease 31 0.023
742
MTH047 Methanol Poisoning 30 0.023
743
INF133 Inferior Vena Cava Interruption 29 0.023
744
P ANT001 Anterolateral Myocardial Infarction 29 0.023
745
c ATS082 Autosomal Dominant Robinow Syndrome 29 0.023
746
P ANM009 Anemia, Hemolytic, Rh-Null, Regulator Type 28 0.023
747
RHS001 Rh Isoimmunization 28 0.023
748
CRB031 Cerebral Arterial Disease 27 0.023
749
P OMD003 Omodysplasia 27 0.023
750
GNC005 Geniculate Ganglionitis 27 0.023
751
BLD052 Blood Group Incompatibility 27 0.023
752
RTN072 Retinohepatoendocrinologic Syndrome 26 0.023
753
c MLT030 Multiple Epiphyseal Dysplasia, Dominant 25 0.023
754
HYP213 Hypomelanotic Disorder 21 0.023
755
KRT038 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma 21 0.023
756
c APL013 Aipl1-Related Leber Congenital Amaurosis 20 0.023
757
ETH012 Ethylene Glycol Poisoning 20 0.023
758
c SNR016 Senior-Loken Syndrome 9 18 0.023
759
c HML047 Heimler Syndrome 1 18 0.023
760
PTC006 Potocki-Luspski Syndrome 17 0.023
761
c ADL079 Adult Heart Tumor 16 0.023
Content
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