Search results for "macular degeneration"

660 hits were found for "macular degeneration"

# Family MCID Name MIFTS Score
2
KHN001 Kuhnt-Junius Degeneration 48 8.764
17
c MCL058 Macular Degeneration, Early-Onset 19 5.839
18
MCL029 Macular Degeneration, X-Linked Atrophic 13 5.369
19
P STR084 Stargardt Disease 1 54 4.264
20
MYP060 Myopic Macular Degeneration 17 4.223
21
JVN017 Juvenile Macular Degeneration and Hypotrichosis 7 4.184
22
P MCL066 Macular Dystrophy, Vitelliform, 2 44 4.161
23
STR046 Stargardt Macular Degeneration 32 3.623
24
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 20 3.485
25
P SPN291 Spinocerebellar Ataxia 7 53 3.433
26
BST007 Best Vitelliform Macular Dystrophy 41 3.420
27
c STR022 Stargardt Disease 58 2.673
28
STR102 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features 13 2.457
29
HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38 2.427
30
CYS012 Cystoid Macular Retinal Degeneration 7 2.360
31
c RTN016 Retinal Degeneration 56 0.739
32
RTN018 Retinal Disease 58 0.736
33
c MCR115 Microvascular Complications of Diabetes 5 71 0.391
34
c CTR002 Cataract 58 0.333
35
UVL010 Uveal Disease 45 0.280
36
CHR079 Choroid Disease 37 0.280
37
AGN016 Aging 63 0.233
38
MCL006 Macular Retinal Edema 55 0.207
39
RTN023 Retinitis 48 0.196
40
DBT006 Diabetic Macular Edema 49 0.165
41
c ALZ034 Alzheimer Disease 88 0.154
42
c TRC086 Trichohepatoenteric Syndrome 1 61 0.150
43
MCL027 Macular Dystrophy, Dominant Cystoid 51 0.150
44
MCL003 Macular Holes 46 0.150
45
PHT003 Phototoxic Dermatitis 44 0.150
46
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 57 0.147
48
NRR001 Neuroretinitis 48 0.147
49
ATX010 Ataxia Neuropathy Spectrum 39 0.147
50
RTN017 Retinal Detachment 62 0.143
51
SCT002 Scotoma 42 0.143
52
c ART153 Arthrochalasia Ehlers-Danlos Syndrome 22 0.143
53
c RTN008 Retinitis Pigmentosa 79 0.139
54
ANR007 Anorexia Nervosa 68 0.139
55
ACN002 Acanthosis Nigricans 65 0.139
56
c ANR048 Aniridia 1 63 0.139
57
c MYP006 Myopia 62 0.139
58
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 38 0.139
59
c ACT232 Acute Necrotizing Encephalopathy 30 0.139
60
CHR158 Charles Bonnet Syndrome 26 0.139
61
BLD137 Blood Group--Ahonen 21 0.139
62
P SPN225 Spondyloarthropathy 1 76 0.135
63
DPR016 Depression 73 0.135
64
CHL123 Chlamydia 66 0.135
65
c ANG001 Angelman Syndrome 65 0.135
66
EWN003 Ewing Sarcoma 74 0.130
67
c ACR001 Aicardi-Goutieres Syndrome 63 0.130
68
c END047 Endophthalmitis 54 0.130
69
P ACR116 Aicardi-Goutieres Syndrome 1 48 0.130
70
CNT060 Central Serous Chorioretinopathy 45 0.130
71
P LBR014 Leber Congenital Amaurosis 4 55 0.121
72
RTN020 Retinal Vascular Disease 54 0.121
73
RFR003 Refractive Error 46 0.121
74
c UVT001 Uveitis 62 0.117
75
c INF032 Infertility 60 0.112
76
THR013 Thoracic Outlet Syndrome 57 0.112
77
c MYC007 Myocardial Infarction 78 0.106
78
ANX010 Anxiety 73 0.106
79
c OPN001 Open-Angle Glaucoma 53 0.106
80
OCL033 Oculocerebral Syndrome with Hypopigmentation 46 0.106
81
DSS008 Disease of Mental Health 70 0.101
82
FND002 Fundus Dystrophy 51 0.101
83
P BDY007 Body Mass Index Quantitative Trait Locus 1 48 0.101
84
CHR008 Choroiditis 44 0.101
85
CHL147 Chlamydia Pneumonia 42 0.101
86
VTR003 Vitreous Detachment 42 0.101
87
c CRN018 Coronary Artery Anomaly 74 0.095
88
ART140 Arteries, Anomalies of 67 0.095
89
c SLL003 Salla Disease 53 0.095
90
VSC007 Vascular Disease 72 0.089
91
THR100 Thrombocytopenic Purpura, Autoimmune 68 0.089
92
P GLC092 Glaucoma, Primary Open Angle 58 0.089
93
CRN024 Corneal Disease 45 0.089
94
CYT002 Cytokine Deficiency 39 0.089
95
RTN006 Retinal Drusen 30 0.089
96
DGS002 Degos 'en Cocarde' Erythrokeratoderma 26 0.089
97
c KDN018 Kidney Disease 71 0.082
98
c AMY004 Amyloidosis 69 0.082
99
DMN002 Dementia 69 0.082
100
MNT002 Mental Depression 65 0.082
101
c NRP001 Neuropathy 63 0.082
102
P THR001 Thrombocytopenia Due to Platelet Alloimmunization 61 0.082
103
OPT006 Optic Nerve Disease 60 0.082
104
c SJG002 Sjogren-Larsson Syndrome 52 0.082
105
UND005 Undifferentiated Pleomorphic Sarcoma 51 0.082
106
DGN002 Degenerative Myopia 35 0.082
107
DRL001 Dural Sinus Malformation 23 0.082
108
P CHR089 Chronic Kidney Failure 73 0.075
109
c PSD087 Pseudoxanthoma Elasticum 68 0.075
110
ACQ007 Acquired Immunodeficiency Syndrome 66 0.075
111
PLG002 Plague 59 0.075
112
c VTL001 Vitelliform Macular Dystrophy 43 0.075
113
CNV002 Conversion Disorder 43 0.075
114
DSS010 Dissociative Disorder 38 0.075
115
P TRC078 Trichohepatoenteric Syndrome 2 35 0.075
116
RTN002 Retinal Perforation 34 0.075
117
c RHM011 Rheumatoid Arthritis 82 0.067
118
c ART022 Arthritis 78 0.067
119
c PRK057 Parkinson Disease, Late-Onset 77 0.067
120
c HRT032 Heart Disease 76 0.067
121
c HYP086 Hypothyroidism 66 0.067
122
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 63 0.067
123
HYP266 Hypoxia 63 0.067
124
OCL006 Ocular Hypertension 56 0.067
125
c RTN022 Retinal Vein Occlusion 54 0.067
126
HPT082 Hepatic Adenomas, Familial 49 0.067
127
P LTN004 Late-Onset Retinal Degeneration 47 0.067
128
ADP007 Adie Pupil 43 0.067
129
SNL007 Senile Cataract 40 0.067
130
LNS003 Lens Disease 40 0.067
131
OST097 Osteoporotic Fracture 36 0.067
132
ANG004 Angioid Streaks 36 0.067
133
DGN003 Degeneration of Macula and Posterior Pole 32 0.067
134
HNM002 Hinman Syndrome 29 0.067
135
FML292 Familial Drusen 28 0.067
136
BTH002 Bothnia Retinal Dystrophy 21 0.067
137
CTR027 Cataract-Glaucoma 20 0.067
138
c PRS040 Prostate Cancer 93 0.058
139
P AMY091 Amyotrophic Lateral Sclerosis 1 90 0.058
140
c ATX030 Ataxia-Telangiectasia 83 0.058
141
INS024 Insulin-Like Growth Factor I 83 0.058
142
OST012 Osteoarthritis 81 0.058
143
c BDY004 Body Mass Index Quantitative Trait Locus 11 74 0.058
144
ACR006 Aceruloplasminemia 72 0.058
145
c SLP006 Sleep Apnea 70 0.058
146
c ATR011 Atrial Fibrillation 69 0.058
147
ALL026 Allergic Hypersensitivity Disease 68 0.058
148
LWC002 Lowe Oculocerebrorenal Syndrome 67 0.058
149
c PSR002 Psoriasis 67 0.058
150
c DBT009 Diabetes Mellitus 67 0.058
151
PRD007 Periodontal Disease 66 0.058
152
MDD011 Mood Disorder 65 0.058
153
P CNR004 Cone-Rod Dystrophy 2 63 0.058
154
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 63 0.058
155
c CTS001 Cutis Laxa 62 0.058
156
AND002 Androgen Insensitivity Syndrome 62 0.058
157
c CRN300 Coronary Heart Disease 1 62 0.058
158
c AXN002 Axenfeld-Rieger Syndrome 62 0.058
159
ATH013 Atherosclerosis Susceptibility 61 0.058
160
ART001 Arterial Tortuosity Syndrome 59 0.058
161
IMP005 Impotence 58 0.058
162
HST011 Histoplasmosis 57 0.058
163
c CRD246 Cardiovascular System Disease 57 0.058
164
RTN209 Retinoschisis 1, X-Linked, Juvenile 55 0.058
165
GNR004 Generalized Anxiety Disorder 55 0.058
166
HMC014 Homocysteinemia 52 0.058
167
c HYP087 Hypotrichosis 50 0.058
168
P CHR579 Chiari Malformation Type Ii 49 0.058
169
AMB002 Amblyopia 49 0.058
170
P ALP106 Alport Syndrome 1, X-Linked 49 0.058
171
c FNG006 Feingold Syndrome 1 47 0.058
172
ICH020 Ichthyosis Prematurity Syndrome 45 0.058
173
PRS063 Paresthesia 45 0.058
174
P BDY020 Body Mass Index Quantitative Trait Locus 19 43 0.058
175
P BDY019 Body Mass Index Quantitative Trait Locus 18 43 0.058
176
P BDY017 Body Mass Index Quantitative Trait Locus 14 41 0.058
177
P BDY011 Body Mass Index Quantitative Trait Locus 10 41 0.058
178
ALR002 Al-Raqad Syndrome 41 0.058
180
P MCL060 Macular Dystrophy, Vitelliform, 3 38 0.058
181
OCL004 Ocular Hyperemia 37 0.058
182
MLT035 Multifocal Choroiditis 36 0.058
183
MYC088 Mycobacterium Avium Complex Infections 34 0.058
184
c BST001 Bestrophinopathy 34 0.058
185
BSL037 Basal Laminar Drusen 34 0.058
186
c ACT028 Acute Closed-Angle Glaucoma 31 0.058
187
PDT045 Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus Infections 29 0.058
188
P RTN106 Retinitis Pigmentosa 51 28 0.058
189
TRD008 Triiodothyronine Receptor Auxiliary Protein 27 0.058
190
DST081 Distal Trisomy 11q 20 0.058
191
AND005 Androgen Insensitivity Syndrome, Mild 19 0.058
192
P SYS001 Systemic Lupus Erythematosus 88 0.048
193
STR067 Stroke, Ischemic 84 0.048
194
P HYP595 Hypertension, Essential 77 0.048
195
c WSK001 Wiskott-Aldrich Syndrome 76 0.048
196
c HPT021 Hepatitis 74 0.048
197
c OST002 Osteoporosis 74 0.048
198
IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 73 0.048
199
THY028 Thyroid Cancer 72 0.048
200
P HPT016 Hepatitis B 70 0.048
201
P THR092 Thrombophilia Due to Thrombin Defect 70 0.048
202
c PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 70 0.048
203
c TYS001 Tay-Sachs Disease 70 0.048
204
c LPS004 Lupus Erythematosus 69 0.048
205
c HML033 Hemolytic Uremic Syndrome, Atypical 1 65 0.048
206
c MYP004 Myopathy 65 0.048
207
c ALP004 Alport Syndrome 65 0.048
208
P CNT035 Central Nervous System Disease 65 0.048
209
c BRD002 Bardet-Biedl Syndrome 65 0.048
210
c LBR001 Leber Congenital Amaurosis 64 0.048
211
c MSC007 Muscle Hypertrophy 64 0.048
212
MLN008 Melanoma 64 0.048
213
RNL114 Renal Cell Carcinoma, Nonpapillary 63 0.048
214
HRP004 Herpes Zoster 63 0.048
215
HDC001 Headache 63 0.048
216
c EHL001 Ehlers-Danlos Syndrome 62 0.048
217
GT001 Gout 62 0.048
218
ECT006 Ectodermal Dysplasia 62 0.048
219
c EXN002 Exanthem 62 0.048
220
c GLM007 Glomerulonephritis 62 0.048
221
PRP030 Purpura 62 0.048
222
c MLN069 Melanoma, Uveal 61 0.048
223
MCR013 Microphthalmia 61 0.048
224
CYT008 Cytomegalovirus Infection 61 0.048
225
P CRD177 Ceroid Lipofuscinosis, Neuronal, 1 61 0.048
226
P BRD014 Bardet-Biedl Syndrome 2 61 0.048
227
END030 End Stage Renal Failure 60 0.048
228
P CRD186 Ceroid Lipofuscinosis, Neuronal, 3 60 0.048
229
P SPN294 Spinocerebellar Ataxia 1 60 0.048
230
c MMB011 Membranous Nephropathy 59 0.048
231
BRN106 Burns 59 0.048
232
PHR003 Pharyngitis 58 0.048
233
c ATS308 Autosomal Dominant Cerebellar Ataxia 58 0.048
234
EXF001 Exfoliation Syndrome 58 0.048
235
c ICH004 Ichthyosis 57 0.048
236
c WRD001 Waardenburg's Syndrome 57 0.048
237
STR020 Strabismus 57 0.048
238
c ACH003 Achromatopsia 57 0.048
239
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.048
240
c NPH005 Nephronophthisis 56 0.048
241
FND001 Fundus Albipunctatus 56 0.048
242
c STS008 Sotos Syndrome 1 55 0.048
243
ADL002 Adult Syndrome 55 0.048
244
c HML001 Hemolytic-Uremic Syndrome 55 0.048
245
c FNC043 Fanconi Anemia, Complementation Group E 54 0.048
246
CTS003 Coats Disease 54 0.048
247
P ANT034 Anterior Uveitis 54 0.048
248
DRY001 Dry Eye Syndrome 53 0.048
249
RGH009 Right Atrial Isomerism 53 0.048
250
HMS001 Hemosiderosis 52 0.048
251
VTM028 Vitamin E, Familial Isolated Deficiency of 52 0.048
252
P PST005 Posterior Uveitis 52 0.048
253
P BRD012 Bardet-Biedl Syndrome 11 52 0.048
254
c MTC133 Mitochondrial Myopathy 52 0.048
255
P PTT056 Pituitary Adenoma 1, Multiple Types 51 0.048
256
MMB001 Membranoproliferative Glomerulonephritis 51 0.048
257
PLY112 Polyarteritis Nodosa, Childhood-Onset 51 0.048
258
SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 51 0.048
259
THY030 Thyroid Gland Disease 51 0.048
260
PPL048 Papillorenal Syndrome 50 0.048
261
c RTN014 Retinal Artery Occlusion 50 0.048
262
SPS003 Spastic Diplegia 49 0.048
263
SYN036 Syncope 49 0.048
264
P BRD013 Bardet-Biedl Syndrome 12 49 0.048
265
c OLV001 Olivopontocerebellar Atrophy 49 0.048
266
DBT008 Diabetic Angiopathy 48 0.048
267
PNN005 Panencephalitis, Subacute Sclerosing 47 0.048
268
P RTN172 Retinitis Pigmentosa 1 46 0.048
269
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 46 0.048
270
c CND005 Cone Dystrophy 45 0.048
271
P BRD011 Bardet-Biedl Syndrome 10 45 0.048
272
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 44 0.048
273
c JVN024 Juvenile Hereditary Hemochromatosis 44 0.048
274
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 43 0.048
275
P SPS125 Spastic Paraplegia 15, Autosomal Recessive 41 0.048
276
P CNT028 Central Retinal Artery Occlusion 41 0.048
277
ATX038 Ataxia and Polyneuropathy, Adult-Onset 41 0.048
278
P PRS136 Prostate Cancer, Hereditary, 6 40 0.048
279
P HYP575 Hypotrichosis 7 40 0.048
280
P BNM022 Bone Mineral Density Quantitative Trait Locus 8 40 0.048
281
DNS007 Dense Deposit Disease 39 0.048
282
AYM001 Ayme-Gripp Syndrome 39 0.048
283
RDN001 Reading Disorder 39 0.048
284
END072 Endotheliitis 39 0.048
285
EXC003 Excessive Tearing 39 0.048
286
DYN002 Doyne Honeycomb Retinal Dystrophy 39 0.048
287
P SPS151 Spastic Paraplegia 11, Autosomal Recessive 38 0.048
288
CNC014 Cancer-Associated Retinopathy 38 0.048
289
CYT005 Cytomegalovirus Retinitis 37 0.048
290
P CNR023 Cone-Rod Dystrophy 8 37 0.048
291
DNC004 Diencephalic Syndrome 37 0.048
292
GGN002 Gigantism 37 0.048
293
P PRS130 Prostate Cancer, Hereditary, 8 37 0.048
294
FNT004 Fainting 36 0.048
295
PNG001 Pinguecula 35 0.048
296
PRL047 Prolonged Electroretinal Response Suppression 35 0.048
297
FRS019 Farsightedness 35 0.048
298
ADJ001 Adjustment Disorder 35 0.048
299
P RTN054 Retinitis Pigmentosa 25 34 0.048
301
P SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 33 0.048
302
c ATM076 Autoimmune Retinopathy 32 0.048
303
P RTN067 Retinitis Pigmentosa 41 32 0.048
304
RDG001 Red-Green Color Blindness 31 0.048
305
CRT011 Carotenemia 31 0.048
306
MCL079 Macular Telangiectasia Type 2 31 0.048
307
PRP026 Peripheral Retinal Degeneration 29 0.048
308
P WSK002 Wiskott-Aldrich Syndrome 2 27 0.048
309
HRP011 Herpes Zoster Ophthalmicus 27 0.048
310
PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 26 0.048
311
BLD153 Blood Group--Swann System 25 0.048
312
HRD019 Hereditary Choroidal Atrophy 25 0.048
313
P RTN159 Retinitis Pigmentosa 45 24 0.048
314
PRT032 Partial Central Choroid Dystrophy 23 0.048
315
SPR067 Sporadic Adult-Onset Ataxia of Unknown Etiology 22 0.048
316
P CNR021 Cone-Rod Dystrophy 10 22 0.048
317
P RTN157 Retinitis Pigmentosa 37 22 0.048
318
P CHR682 Chronic Bilirubin Encephalopathy 22 0.048
319
c CNR040 Cone-Rod Dystrophy and Hearing Loss 1 21 0.048
320
P SNR016 Senior-Loken Syndrome 9 20 0.048
321
P STR054 Stargardt Disease 4 18 0.048
322
PSD050 Pseudoxanthoma Elasticum, Forme Fruste 16 0.048
323
XLN092 X-Linked Neurodegenerative Syndrome, Bertini Type 10 0.048
324
HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 5 0.048
325
c BRS047 Breast Cancer 100 0.034
326
c LNG032 Lung Cancer 99 0.034
327
c CLR023 Colorectal Cancer 99 0.034
328
c DBT026 Diabetes Mellitus, Noninsulin-Dependent 92 0.034
329
c HYP607 Hypercholesterolemia, Familial 82 0.034
330
MRF001 Marfan Syndrome 76 0.034
331
HMN044 Human Immunodeficiency Virus Type 1 75 0.034
332
c INF038 Influenza 75 0.034
333
PLM129 Pulmonary Disease, Chronic Obstructive 75 0.034
334
APL001 Aplastic Anemia 75 0.034
335
P HMC039 Hemochromatosis, Type 1 74 0.034
336
WRN001 Werner Syndrome 74 0.034
337
MYC006 Mycosis Fungoides 74 0.034
338
MLT157 Multiple System Atrophy 1 73 0.034
339
c NRV007 Nervous System Disease 72 0.034
340
c PNM007 Pneumonia 72 0.034
341
PRP027 Peripheral Vascular Disease 72 0.034
342
CNG034 Congestive Heart Failure 71 0.034
343
BRR014 Barrett Esophagus 71 0.034
344
LYM017 Lyme Disease 71 0.034
345
MYL005 Myelofibrosis 70 0.034
346
CRB039 Cerebrovascular Disease 70 0.034
347
ALC007 Alcohol Dependence 70 0.034
348
GLN010 Glanzmann Thrombasthenia 69 0.034
349
SVR097 Severe Cutaneous Adverse Reaction 69 0.034
350
GLL008 Gilles De La Tourette Syndrome 69 0.034
351
VRL011 Viral Infectious Disease 69 0.034
352
c ALC004 Alcohol Abuse 69 0.034
353
DRM006 Dermatitis 69 0.034
354
SMT004 Smith-Lemli-Opitz Syndrome 69 0.034
355
ATM095 Autoimmune Disease 68 0.034
356
APN008 Apnea, Obstructive Sleep 68 0.034
357
SKN016 Skin Disease 68 0.034
358
c MYC084 Mycobacterium Tuberculosis 1 68 0.034
359
c PRS038 Personality Disorder 68 0.034
360
c ALP009 Alopecia Areata 68 0.034
361
P NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67 0.034
362
ISC004 Ischemia 67 0.034
363
ABT001 Abetalipoproteinemia 67 0.034
364
CNN005 Connective Tissue Disease 67 0.034
365
P GLY008 Glycogen Storage Disease Ii 67 0.034
366
c INT143 Interstitial Cystitis 67 0.034
367
MVM001 Movement Disease 67 0.034
368
INC021 Incontinentia Pigmenti 67 0.034
369
c PRD008 Periodontitis 66 0.034
370
GST092 Gastroesophageal Reflux 66 0.034
371
RCK004 Rickets 66 0.034
372
SND001 Sandhoff Disease 66 0.034
373
P MCR129 Microvascular Complications of Diabetes 1 66 0.034
374
c PRP019 Peripheral Nervous System Disease 66 0.034
375
LPD008 Lipid Metabolism Disorder 65 0.034
376
c CHR071 Charcot-Marie-Tooth Disease 65 0.034
377
c ENC018 Encephalopathy 65 0.034
378
CHL065 Cholangiocarcinoma 65 0.034
379
TBC004 Tobacco Addiction 64 0.034
380
CNT047 Contact Dermatitis 64 0.034
381
CMP010 Complex Regional Pain Syndrome 64 0.034
382
c SHW006 Shwachman-Diamond Syndrome 1 64 0.034
383
MYL031 Myeloproliferative Neoplasm 64 0.034
384
PRD013 Periodic Fever, Familial, Autosomal Dominant 64 0.034
385
THR024 Thrombosis 64 0.034
386
TNG002 Tangier Disease 64 0.034
387
PLL001 Pallister-Hall Syndrome 63 0.034
388
P LRG017 Large Intestine Cancer 63 0.034
389
IMM167 Immune Deficiency Disease 63 0.034
390
KRT019 Keratitis, Hereditary 63 0.034
391
KRT001 Keratoconjunctivitis Sicca 63 0.034
392
c PNS012 Paine Syndrome 63 0.034
393
ERY003 Erythema Multiforme 63 0.034
394
RFS006 Refsum Disease, Classic 63 0.034
395
HMR039 Hemorrhage, Intracerebral 62 0.034
396
c EPL140 Epilepsy, Idiopathic Generalized 62 0.034
397
P ALZ049 Alzheimer Disease 2 61 0.034
398
OCL009 Ocular Cancer 61 0.034
399
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 61 0.034
400
c ART021 Arteriosclerosis 61 0.034
401
c HYP724 Hyperlipoproteinemia, Type Iii 61 0.034
402
IRN002 Iron Metabolism Disease 60 0.034
403
MYC079 Myoclonic Epilepsy of Lafora 60 0.034
404
URT039 Urticaria 60 0.034
405
ACR008 Acrocallosal Syndrome 60 0.034
406
NTR005 Nutritional Deficiency Disease 60 0.034
407
c TRC102 Trichothiodystrophy 1, Photosensitive 59 0.034
408
c OCL013 Oculodentodigital Dysplasia 59 0.034
409
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 59 0.034
410
END040 Endogenous Depression 59 0.034
411
HYP190 Hypoalphalipoproteinemia, Primary 59 0.034
412
P WRD030 Waardenburg Syndrome, Type 1 59 0.034
413
STR039 Sturge-Weber Syndrome 58 0.034
414
c PLY019 Polyneuropathy 58 0.034
415
c HYP750 Hypertriglyceridemia, Familial 58 0.034
416
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 58 0.034
417
PLC005 Placental Insufficiency 58 0.034
418
P BRD010 Bardet-Biedl Syndrome 1 58 0.034
419
SMT008 Smith-Magenis Syndrome 58 0.034
420
CRT016 Carotid Artery Disease 58 0.034
421
c ANG015 Angioedema 58 0.034
422
c MLT007 Multiple Epiphyseal Dysplasia 58 0.034
423
c SHR029 Short Syndrome 57 0.034
424
IMM136 Immune System Disease 57 0.034
425
P ACT075 Acute Myocardial Infarction 57 0.034
426
ARS001 Aarskog-Scott Syndrome 57 0.034
427
c PYL005 Pyelonephritis 57 0.034
428
RSP019 Respiratory Distress Syndrome in Premature Infants 57 0.034
429
PRS047 Prostatitis 57 0.034
430
SNS003 Sensory Peripheral Neuropathy 56 0.034
431
ACT049 Acute Disseminated Encephalomyelitis 56 0.034
432
P CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 56 0.034
433
PRP080 Peripheral Artery Disease 56 0.034
434
ART002 Arts Syndrome 56 0.034
435
LNG031 Lung Benign Neoplasm 56 0.034
436
CLS005 Clouston Syndrome 55 0.034
437
OCL022 Ocular Melanoma 55 0.034
438
SMT006 Somatoform Disorder 55 0.034
439
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 55 0.034
440
P MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 55 0.034
441
c CPL006 Capillary Hemangioma 55 0.034
442
MYC087 Mycoplasma Pneumoniae Pneumonia 55 0.034
443
P BLD124 Bleeding Disorder, Platelet-Type, 11 55 0.034
444
TLN003 Telangiectasis 55 0.034
445
ENT011 Enterocolitis 55 0.034
446
LMB062 Limb Ischemia 54 0.034
447
P PSR017 Psoriasis 2 54 0.034
448
c XRD022 Xeroderma Pigmentosum, Complementation Group D 54 0.034
449
P NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54 0.034
450
P ALB009 Albinism, Oculocutaneous, Type Ia 54 0.034
451
TTH006 Tooth Disease 54 0.034
452
RTC002 Reticular Dysgenesis 54 0.034
453
c NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 54 0.034
454
ATR057 Atrioventricular Block 54 0.034
455
c CNG010 Congenital Stationary Night Blindness 54 0.034
456
c THY032 Thyroiditis 54 0.034
457
CHR005 Chorioamnionitis 53 0.034
458
c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52 0.034
459
c PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 52 0.034
460
c MGL001 Megaloblastic Anemia 52 0.034
461
c FNC044 Fanconi Anemia, Complementation Group C 52 0.034
462
CRN030 Coronary Stenosis 52 0.034
463
P FBR084 Fibromatosis, Gingival, 1 52 0.034
464
STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 52 0.034
465
HLL004 Hellp Syndrome 52 0.034
466
HYP458 Hyper Ige Syndrome 52 0.034
467
KRT002 Keratomalacia 51 0.034
468
HNT002 Hantavirus Pulmonary Syndrome 51 0.034
469
HMP009 Haemophilus Influenzae 51 0.034
470
HYP732 Hyperalphalipoproteinemia 1 51 0.034
471
CRN027 Corneal Neovascularization 51 0.034
472
c MTC069 Mitochondrial Disorders 51 0.034
474
ICH001 Ichthyosis Vulgaris 50 0.034
475
ACT088 Acute Insulin Response 50 0.034
476
BLL001 Baller-Gerold Syndrome 50 0.034
477
P MTR002 Mitral Valve Insufficiency 50 0.034
478
PST011 Pustulosis of Palm and Sole 50 0.034
479
c FML035 Familial Hyperlipidemia 50 0.034
480
PTH003 Pathologic Nystagmus 50 0.034
481
DYS022 Dyschromatosis Symmetrica Hereditaria 50 0.034
482
EPD070 Epidermoid Cysts 50 0.034
483
NTR003 Natural Killer Cell Leukemia 50 0.034
484
P HNT010 Huntington Disease-Like 1 50 0.034
485
c EPT020 Epithelioid Hemangioendothelioma 50 0.034
486
VSC006 Vascular Cancer 49 0.034
487
c CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 49 0.034
488
BSL008 Basal Ganglia Disease 49 0.034
489
HMZ003 Homozygous Familial Hypercholesterolemia 49 0.034
490
HYP781 Hypoascorbemia 49 0.034
491
P ALZ056 Alzheimer Disease 3 49 0.034
492
HYP081 Hypolipoproteinemia 49 0.034
493
NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 49 0.034
494
LMR001 Lemierre's Syndrome 49 0.034
495
PPL021 Papilledema 49 0.034
496
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 48 0.034
497
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 48 0.034
498
c ARC016 Auriculocondylar Syndrome 1 48 0.034
499
NRT001 Neurotic Disorder 48 0.034
500
SRS007 Sorsby Fundus Dystrophy 48 0.034
501
MCL009 Mcleod Syndrome 48 0.034
502
P AXN009 Axenfeld-Rieger Syndrome, Type 1 48 0.034
503
PMP004 Pemphigus Foliaceus 47 0.034
504
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47 0.034
505
P SPL067 Split-Hand/foot Malformation 1 47 0.034
506
CMP028 Complement Component 2 Deficiency 47 0.034
507
CPL005 Capillary Disease 47 0.034
508
c DNR001 Duane Retraction Syndrome 46 0.034
509
P MGL018 Megaloblastic Anemia 1 46 0.034
510
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 46 0.034
511
RDT013 Radiation Proctitis 46 0.034
512
PRC003 Proctitis 45 0.034
513
RST011 Restrictive Dermopathy, Lethal 45 0.034
514
ART004 Aortic Atherosclerosis 45 0.034
515
RTN021 Retinal Vascular Occlusion 45 0.034
516
c CNR007 Cone-Rod Dystrophy 6 45 0.034
517
BLP005 Blepharitis 45 0.034
518
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 44 0.034
519
P ACQ012 Acquired Angioedema 44 0.034
520
CNN001 Cannabis Dependence 44 0.034
521
CMP004 Complement Factor I Deficiency 44 0.034
522
IMN001 Iminoglycinuria 44 0.034
523
P HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 44 0.034
524
SPS057 Spasticity 44 0.034
525
c PRL003 Proliferative Glomerulonephritis 44 0.034
526
P PSR028 Psoriasis 7 43 0.034
527
P PSR032 Psoriasis 11 43 0.034
528
c CRV039 Cervicitis 43 0.034
529
VTR005 Vitreous Disease 43 0.034
530
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 43 0.034
531
ACT167 Acute Generalized Exanthematous Pustulosis 43 0.034
532
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 43 0.034
533
CRN031 Cranial Nerve Disease 43 0.034
534
HYP706 Hypermobile Ehlers-Danlos Syndrome 43 0.034
535
P PSR018 Psoriasis 13 42 0.034
536
CNN002 Cannabis Abuse 42 0.034
537
P AML044 Amelogenesis Imperfecta, Type Ig 42 0.034
538
P PSR023 Psoriasis 1 42 0.034
539
LTX001 Latex Allergy 42 0.034
540
P NGH026 Night Blindness, Congenital Stationary, Type 1a 42 0.034
541
c CHR637 Choroidal Dystrophy, Central Areolar, 1 42 0.034
542
SPN331 Spondyloocular Syndrome 42 0.034
543
MYL013 Myeloperoxidase Deficiency 41 0.034
544
NNC002 Nance-Horan Syndrome 41 0.034
545
CHR413 Chronic Myocardial Ischemia 41 0.034
546
MTR007 Motor Peripheral Neuropathy 41 0.034
547
P FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 41 0.034
548
DRG024 Drug Allergy 41 0.034
549
SMT001 Somatization Disorder 40 0.034
550
THR099 Third-Degree Atrioventricular Block 40 0.034
551
c LBY004 Labyrinthitis 40 0.034
552
CMP090 Complement Component 3 Deficiency, Autosomal Recessive 40 0.034
553
ISL121 Isolated Split Hand-Split Foot Malformation 40 0.034
554
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 40 0.034
555
STV003 Stuve-Wiedemann Syndrome 40 0.034
556
CHR078 Chorioretinitis 40 0.034
557
CMP042 Complement Factor H Deficiency 40 0.034
558
P LBR019 Leber Congenital Amaurosis 9 40 0.034
559
LYM043 Lymphocytic Hypophysitis 39 0.034
560
c CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 39 0.034
561
P DNR003 Duane Retraction Syndrome 1 39 0.034
562
P PRM038 Primary Agammaglobulinemia 39 0.034
563
c ANX007 Anauxetic Dysplasia 1 39 0.034
564
P KNB006 Knobloch Syndrome 1 39 0.034
565
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 39 0.034
566
c SPL061 Split Hand-Foot Malformation 39 0.034
567
OPT010 Optic Papillitis 39 0.034
568
CRB009 Cerebritis 39 0.034
569
PRR004 Preretinal Fibrosis 39 0.034
570
P RTN069 Retinitis Pigmentosa 7 38 0.034
571
CRN285 Corneal Dystrophy, Fleck 38 0.034
572
DBT007 Diabetic Cataract 38 0.034
573
P SYS043 Systemic Lupus Erythematosus 1 38 0.034
574
HMC038 Hemochromatosis, Neonatal 38 0.034
575
INT323 Intraocular Pressure Quantitative Trait Locus 38 0.034
576
LPD001 Lipid Pneumonia 38 0.034
577
OPT001 Optic Disk Drusen 38 0.034
578
MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38 0.034
579
SPP007 Suppression Amblyopia 38 0.034
580
P RTN041 Retinitis Pigmentosa 11 37 0.034
581
P CRD184 Ceroid Lipofuscinosis, Neuronal, 5 37 0.034
582
CHR568 Chromosome 6q24-Q25 Deletion Syndrome 37 0.034
583
TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 37 0.034
584
C3G002 C3 Glomerulopathy 37 0.034
585
XNT009 Xanthoma Disseminatum 37 0.034
586
P CNR016 Cone-Rod Dystrophy 7 37 0.034
587
c PHT010 Photoparoxysmal Response 1 37 0.034
588
FNC030 Fanconi Anemia, Complementation Group G 36 0.034
589
BRN026 Branch Retinal Artery Occlusion 36 0.034
590
DYS013 Dysbaric Osteonecrosis 36 0.034
591
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 35 0.034
592
EPT021 Epithelial Recurrent Erosion Dystrophy 35 0.034
593
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 35 0.034
594
IRT001 Iritis 35 0.034
595
FRN013 Frontotemporal Dementia, Chromosome 3-Linked 35 0.034
596
ATX019 Ataxia with Vitamin E Deficiency 34 0.034
597
ANG007 Angiokeratoma Circumscriptum 34 0.034
598
OCC002 Occult Macular Dystrophy 34 0.034
599
RHY001 Rhyns Syndrome 33 0.034
600
ADR023 Adrenomyodystrophy 33 0.034
601
FST001 Foster-Kennedy Syndrome 33 0.034
602
HRD016 Hereditary Retinal Dystrophy 33 0.034
603
MNG003 Mungan Syndrome 33 0.034
604
P RTN042 Retinitis Pigmentosa 12 32 0.034
605
c KNB001 Knobloch Syndrome 32 0.034
606
SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 32 0.034
607
PRL001 Purulent Labyrinthitis 31 0.034
608
P CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 31 0.034
609
P TRC101 Trichothiodystrophy 4, Nonphotosensitive 30 0.034
610
c STR035 Streptococcal Group a Invasive Disease 30 0.034
611
ART010 Arteriolosclerosis 29 0.034
612
P CNR006 Cone-Rod Dystrophy 5 29 0.034
613
NRN002 Neuronitis 29 0.034
614
P BDY005 Body Mass Index Quantitative Trait Locus 9 29 0.034
615
SVN002 Sveinsson Chorioretinal Atrophy 29 0.034
616
RDN004 Radin Blood Group Antigen 29 0.034
617
MLN070 Melanoma-Astrocytoma Syndrome 28 0.034
618
P BDY015 Body Mass Index Quantitative Trait Locus 12 28 0.034
619
FRT005 Fruit Allergy 28 0.034
620
P NRP062 Neuropathy - Hereditary 28 0.034
621
P BDY010 Body Mass Index Quantitative Trait Locus 4 27 0.034
622
P BDY006 Body Mass Index Quantitative Trait Locus 8 27 0.034
623
P BDY012 Body Mass Index Quantitative Trait Locus 7 27 0.034
624
CRB147 Cerebellofaciodental Syndrome 27 0.034
625
P EPS039 Episodic Pain Syndrome, Familial, 1 27 0.034
626
PRM008 Parametritis 27 0.034
627
P BLD140 Blood Group, I System 26 0.034
628
MSL004 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis 26 0.034
629
XP2001 Xp22.3 Microdeletion Syndrome 26 0.034
630
MCH006 Mechanical Strabismus 26 0.034
631
CNG376 Congenital Leptin Deficiency 26 0.034
632
PSD004 Pseudomembranous Conjunctivitis 26 0.034
633
PRG074 Progressive Myoclonus Epilepsy, Lafora Type 26 0.034
634
SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 25 0.034
635
c DST101 Distal Hereditary Motor Neuropathies 25 0.034
636
PRK066 Parkinsonism with Spasticity, X-Linked 25 0.034
637
P NRN027 Neuronopathy, Distal Hereditary Motor, Type I 24 0.034
638
PLY150 Polykaryocytosis Inducer 24 0.034
639
BLD163 Blood Group, Dombrock System 23 0.034
640
P STR040 Stargardt Disease 3 23 0.034
641
BLD165 Blood Group, Colton System 23 0.034
642
CMP041 Complement Factor D Deficiency 23 0.034
643
P ICH014 Ichthyosis Lamellar 1 22 0.034
644
P CNR012 Cone-Rod Dystrophy 11 22 0.034
645
MRN005 Marie Unna Congenital Hypotrichosis 22 0.034
646
P CNR024 Cone-Rod Dystrophy 13 21 0.034
647
PST092 Posttransplant Acute Limbic Encephalitis 21 0.034
648
P RTN065 Retinitis Pigmentosa 36 21 0.034
649
c PTT054 Patterned Macular Dystrophy 21 0.034
650
P AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 19 0.034
651
MTH081 Mthfr Gene Variant 19 0.034
652
BSL001 Basilar Artery Insufficiency 19 0.034
653
LGR001 Laugier-Hunziker Syndrome 19 0.034
654
CMP063 Complement Factor B Deficiency 18 0.034
655
IMM162 Immunoglobulin E Concentration, Serum 16 0.034
656
INT334 Intellectual Developmental Disorder and Retinitis Pigmentosa 13 0.034
657
DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 13 0.034
658
INT147 Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 13 0.034
659
HST002 Histoplasmosis Retinitis 12 0.034
660
P MJR014 Major Depressive Disorder 2 12 0.034
Content
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