Search results for "macular degeneration"

614 hits were found for "macular degeneration"

# Family MCID Name MIFTS Score
2
KHN001 Kuhnt-Junius Degeneration 47 8.472
17
MCL058 Macular Degeneration, Early-Onset 18 5.794
18
MCL029 Macular Degeneration, X-Linked Atrophic 14 5.329
19
c STR084 Stargardt Disease 1 52 4.203
20
JVN017 Juvenile Macular Degeneration and Hypotrichosis 7 4.153
21
c MCL066 Macular Dystrophy, Vitelliform, 2 37 4.130
22
STR046 Stargardt Macular Degeneration 29 3.605
23
MYP060 Myopic Macular Degeneration 17 3.453
24
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 18 3.442
25
c SPN291 Spinocerebellar Ataxia 7 55 3.408
26
BST007 Best Vitelliform Macular Dystrophy 36 3.382
27
STR022 Stargardt Disease 59 2.664
28
STR102 Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features 13 2.441
29
ALP021 Alopecia Macular Degeneration Growth Retardation 3 2.427
30
HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 40 2.410
31
KST001 Kuster Majewski Hammerstein Syndrome 4 2.369
32
CYS012 Cystoid Macular Retinal Degeneration 7 2.341
33
RTN016 Retinal Degeneration 53 0.753
34
RTN018 Retinal Disease 56 0.750
35
CTR002 Cataract 58 0.290
36
UVL010 Uveal Disease 38 0.284
37
CHR079 Choroid Disease 32 0.284
38
AGN016 Aging 62 0.220
39
MCL006 Macular Retinal Edema 52 0.214
40
RTN023 Retinitis 48 0.196
41
DBT006 Diabetic Macular Edema 50 0.170
42
MCL027 Macular Dystrophy, Dominant Cystoid 52 0.155
43
TRC086 Trichohepatoenteric Syndrome 1 51 0.155
44
PHT003 Phototoxic Dermatitis 32 0.155
45
MCR115 Microvascular Complications of Diabetes 5 70 0.151
46
NRR001 Neuroretinitis 39 0.151
47
ATX010 Ataxia Neuropathy Spectrum 32 0.151
48
SCT002 Scotoma 40 0.147
49
ART153 Arthrochalasia Ehlers-Danlos Syndrome 24 0.147
50
ANR007 Anorexia Nervosa 68 0.143
51
ACN002 Acanthosis Nigricans 66 0.143
52
ANR048 Aniridia 1 65 0.143
53
RTN017 Retinal Detachment 59 0.143
54
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 46 0.143
55
ACT232 Acute Necrotizing Encephalopathy 33 0.143
56
CHR158 Charles Bonnet Syndrome 26 0.143
57
BLD137 Blood Group--Ahonen 24 0.143
58
c SPN225 Spondyloarthropathy 1 75 0.139
59
EWN003 Ewing Sarcoma 72 0.139
60
ANG001 Angelman Syndrome 67 0.139
61
CHL123 Chlamydia 66 0.139
62
RTN008 Retinitis Pigmentosa 79 0.134
63
ACR001 Aicardi-Goutieres Syndrome 61 0.134
64
END047 Endophthalmitis 51 0.134
65
MCL003 Macular Holes 45 0.134
66
c ACR116 Aicardi-Goutieres Syndrome 1 44 0.134
67
CNT060 Central Serous Chorioretinopathy 45 0.125
68
ALZ034 Alzheimer Disease 86 0.120
69
RTN020 Retinal Vascular Disease 54 0.120
70
RFR003 Refractive Error 44 0.120
71
c LBR014 Leber Congenital Amaurosis 4 63 0.115
72
MYP006 Myopia 58 0.115
73
INF032 Infertility 58 0.115
74
DPR016 Depression 73 0.110
75
UVT001 Uveitis 61 0.110
76
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 57 0.110
77
THR013 Thoracic Outlet Syndrome 55 0.110
78
OPN001 Open-Angle Glaucoma 53 0.104
79
CHL147 Chlamydia Pneumonia 41 0.104
80
VTR003 Vitreous Detachment 38 0.104
81
ANX010 Anxiety 72 0.092
82
VSC007 Vascular Disease 68 0.092
83
THR100 Thrombocytopenic Purpura, Autoimmune 65 0.092
84
c GLC092 Glaucoma, Primary Open Angle 58 0.092
85
CRN024 Corneal Disease 44 0.092
86
CHR008 Choroiditis 42 0.092
87
AMY004 Amyloidosis 68 0.085
88
SJG002 Sjogren-Larsson Syndrome 53 0.085
89
FND002 Fundus Dystrophy 50 0.085
90
RTN006 Retinal Drusen 25 0.085
91
c TRC078 Trichohepatoenteric Syndrome 2 22 0.085
92
PSD087 Pseudoxanthoma Elasticum 68 0.078
93
NRP001 Neuropathy 62 0.078
94
MNT002 Mental Depression 62 0.078
95
OPT006 Optic Nerve Disease 60 0.078
96
c BDY007 Body Mass Index Quantitative Trait Locus 1 47 0.078
97
CNV002 Conversion Disorder 40 0.078
98
VTL001 Vitelliform Macular Dystrophy 38 0.078
99
RTN002 Retinal Perforation 34 0.078
100
DSS010 Dissociative Disorder 33 0.078
101
MYC007 Myocardial Infarction 77 0.069
102
ALP046 Alport Syndrome, X-Linked 74 0.069
103
c CHR089 Chronic Kidney Failure 73 0.069
104
KDN018 Kidney Disease 68 0.069
105
UND005 Undifferentiated Pleomorphic Sarcoma 66 0.069
106
ACQ007 Acquired Immunodeficiency Syndrome 63 0.069
107
HYP266 Hypoxia 62 0.069
108
c 3MT016 3-Methylglutaconic Aciduria, Type Iii 62 0.069
109
PLG002 Plague 56 0.069
110
OCL006 Ocular Hypertension 55 0.069
111
HPT082 Hepatic Adenomas, Familial 51 0.069
112
c LTN004 Late-Onset Retinal Degeneration 47 0.069
113
OST097 Osteoporotic Fracture 44 0.069
114
ADP007 Adie Pupil 43 0.069
115
SNL007 Senile Cataract 40 0.069
116
DGS002 Degos \'en Cocarde\' Erythrokeratoderma 36 0.069
117
ANG004 Angioid Streaks 36 0.069
118
HNM002 Hinman Syndrome 32 0.069
119
FML292 Familial Drusen 30 0.069
120
LNS003 Lens Disease 30 0.069
121
BTH002 Bothnia Retinal Dystrophy 19 0.069
122
CTR027 Cataract-Glaucoma 18 0.069
123
PRS040 Prostate Cancer 94 0.060
124
c AMY091 Amyotrophic Lateral Sclerosis 1 91 0.060
125
ATX030 Ataxia-Telangiectasia 84 0.060
126
RHM011 Rheumatoid Arthritis 82 0.060
127
ART022 Arthritis 77 0.060
128
CRN018 Coronary Artery Anomaly 75 0.060
129
HRT032 Heart Disease 73 0.060
130
ACR006 Aceruloplasminemia 70 0.060
131
DMN002 Dementia 68 0.060
132
LWC002 Lowe Oculocerebrorenal Syndrome 67 0.060
133
PSR002 Psoriasis 66 0.060
134
AND002 Androgen Insensitivity Syndrome 65 0.060
135
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.060
136
ART140 Arteries, Anomalies of 65 0.060
137
PRD007 Periodontal Disease 65 0.060
138
CNR004 Cone-Rod Dystrophy 2 63 0.060
139
MDD011 Mood Disorder 62 0.060
140
ART001 Arterial Tortuosity Syndrome 60 0.060
141
CTS001 Cutis Laxa 58 0.060
142
IMP005 Impotence 57 0.060
143
AXN002 Axenfeld-Rieger Syndrome 56 0.060
144
HST011 Histoplasmosis 56 0.060
145
BRN106 Burns 55 0.060
146
RTN022 Retinal Vein Occlusion 54 0.060
147
GNR004 Generalized Anxiety Disorder 53 0.060
148
RTN209 Retinoschisis 1, X-Linked, Juvenile 53 0.060
149
AMB002 Amblyopia 49 0.060
150
HYP087 Hypotrichosis 46 0.060
151
ICH020 Ichthyosis Prematurity Syndrome 45 0.060
152
c CHR579 Chiari Malformation Type Ii 42 0.060
153
ALR002 Al-Raqad Syndrome 41 0.060
154
PRS063 Paresthesia 39 0.060
155
c MCL060 Macular Dystrophy, Vitelliform, 3 38 0.060
156
MLT035 Multifocal Choroiditis 35 0.060
157
MYC088 Mycobacterium Avium Complex Infections 33 0.060
158
BSL037 Basal Laminar Drusen 31 0.060
159
DGN002 Degenerative Myopia 31 0.060
160
ACT028 Acute Closed-Angle Glaucoma 30 0.060
161
DGN003 Degeneration of Macula and Posterior Pole 29 0.060
162
c RTN106 Retinitis Pigmentosa 51 28 0.060
163
AND005 Androgen Insensitivity Syndrome, Mild 22 0.060
164
c SYS001 Systemic Lupus Erythematosus 88 0.049
165
STR067 Stroke, Ischemic 85 0.049
166
c HYP595 Hypertension, Essential 78 0.049
167
WSK001 Wiskott-Aldrich Syndrome 76 0.049
168
PRK057 Parkinson Disease, Late-Onset 76 0.049
169
OST002 Osteoporosis 74 0.049
170
PRP027 Peripheral Vascular Disease 71 0.049
171
THY028 Thyroid Cancer 71 0.049
172
TYS001 Tay-Sachs Disease 70 0.049
173
SLP006 Sleep Apnea 70 0.049
174
ATR011 Atrial Fibrillation 69 0.049
175
LPS004 Lupus Erythematosus 69 0.049
176
DBT009 Diabetes Mellitus 67 0.049
177
ATH013 Atherosclerosis Susceptibility 66 0.049
178
HML033 Hemolytic Uremic Syndrome, Atypical 1 66 0.049
179
PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 65 0.049
180
LBR001 Leber Congenital Amaurosis 65 0.049
181
BRD002 Bardet-Biedl Syndrome 64 0.049
182
MYP004 Myopathy 63 0.049
183
c CNT035 Central Nervous System Disease 62 0.049
184
HRP004 Herpes Zoster 61 0.049
185
PRP030 Purpura 61 0.049
186
c BRD014 Bardet-Biedl Syndrome 2 61 0.049
187
ECT006 Ectodermal Dysplasia 61 0.049
188
HDC001 Headache 61 0.049
189
GT001 Gout 60 0.049
190
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 60 0.049
191
GLM007 Glomerulonephritis 60 0.049
192
ACH003 Achromatopsia 59 0.049
193
c CRN300 Coronary Heart Disease 1 59 0.049
194
HMR039 Hemorrhage, Intracerebral 59 0.049
195
NTR005 Nutritional Deficiency Disease 58 0.049
196
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 58 0.049
197
MMB011 Membranous Nephropathy 58 0.049
198
WRD001 Waardenburg\'s Syndrome 58 0.049
199
FND001 Fundus Albipunctatus 57 0.049
200
PHR003 Pharyngitis 57 0.049
201
EXF001 Exfoliation Syndrome 57 0.049
202
EXN002 Exanthem 56 0.049
203
ICH004 Ichthyosis 56 0.049
204
NPH005 Nephronophthisis 56 0.049
205
STS008 Sotos Syndrome 1 56 0.049
206
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.049
207
CTS003 Coats Disease 55 0.049
208
VTM028 Vitamin E, Familial Isolated Deficiency of 55 0.049
209
MTC133 Mitochondrial Myopathy 54 0.049
210
SPS003 Spastic Diplegia 54 0.049
211
FNC043 Fanconi Anemia, Complementation Group E 54 0.049
212
HMC014 Homocysteinemia 54 0.049
213
RGH009 Right Atrial Isomerism 54 0.049
214
c ANT034 Anterior Uveitis 54 0.049
215
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 53 0.049
216
DRY001 Dry Eye Syndrome 53 0.049
217
HML001 Hemolytic-Uremic Syndrome 53 0.049
218
OLV001 Olivopontocerebellar Atrophy 53 0.049
219
WDH003 Woodhouse-Sakati Syndrome 52 0.049
220
c PST005 Posterior Uveitis 52 0.049
221
CYT005 Cytomegalovirus Retinitis 52 0.049
222
c BRD012 Bardet-Biedl Syndrome 11 52 0.049
223
HMS001 Hemosiderosis 52 0.049
224
c PTT056 Pituitary Adenoma 1, Multiple Types 52 0.049
225
NRT001 Neurotic Disorder 51 0.049
226
MMB001 Membranoproliferative Glomerulonephritis 51 0.049
227
PPL048 Papillorenal Syndrome 50 0.049
228
c BRD013 Bardet-Biedl Syndrome 12 49 0.049
229
FNG006 Feingold Syndrome 1 48 0.049
230
c BNM029 Bone Mineral Density Quantitative Trait Locus 15 47 0.049
231
SYN036 Syncope 47 0.049
232
CND005 Cone Dystrophy 45 0.049
233
c BRD011 Bardet-Biedl Syndrome 10 45 0.049
234
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 44 0.049
235
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 44 0.049
236
DBT008 Diabetic Angiopathy 44 0.049
237
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 44 0.049
238
PNN005 Panencephalitis, Subacute Sclerosing 44 0.049
239
THY030 Thyroid Gland Disease 43 0.049
240
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42 0.049
241
JVN024 Juvenile Hereditary Hemochromatosis 42 0.049
242
c HYP575 Hypotrichosis 7 42 0.049
243
c CNT028 Central Retinal Artery Occlusion 41 0.049
244
c RTN172 Retinitis Pigmentosa 1 40 0.049
245
DYN002 Doyne Honeycomb Retinal Dystrophy 40 0.049
246
c RTN048 Retinitis Pigmentosa 19 40 0.049
247
END072 Endotheliitis 40 0.049
248
DNS007 Dense Deposit Disease 39 0.049
249
c CNR023 Cone-Rod Dystrophy 8 38 0.049
251
CNC014 Cancer-Associated Retinopathy 38 0.049
252
GGN002 Gigantism 37 0.049
253
PNG001 Pinguecula 37 0.049
254
ADJ001 Adjustment Disorder 36 0.049
255
PRL047 Prolonged Electroretinal Response Suppression 36 0.049
256
EXC003 Excessive Tearing 35 0.049
257
DNC004 Diencephalic Syndrome 35 0.049
258
c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 34 0.049
259
FNT004 Fainting 34 0.049
260
FRS019 Farsightedness 32 0.049
261
OCL004 Ocular Hyperemia 32 0.049
262
ATM076 Autoimmune Retinopathy 32 0.049
263
RDG001 Red-Green Color Blindness 31 0.049
264
c RTN054 Retinitis Pigmentosa 25 30 0.049
265
MCL079 Macular Telangiectasia Type 2 29 0.049
266
PRP026 Peripheral Retinal Degeneration 28 0.049
267
CRT011 Carotenemia 27 0.049
268
HRP011 Herpes Zoster Ophthalmicus 26 0.049
269
BLD153 Blood Group--Swann System 25 0.049
270
CNR037 Cone-Rod Dystrophy and Hearing Loss 25 0.049
271
c RTN159 Retinitis Pigmentosa 45 25 0.049
272
HRD019 Hereditary Choroidal Atrophy 24 0.049
273
c RTN067 Retinitis Pigmentosa 41 24 0.049
274
PRT032 Partial Central Choroid Dystrophy 23 0.049
275
c CNR021 Cone-Rod Dystrophy 10 22 0.049
276
c RTN157 Retinitis Pigmentosa 37 22 0.049
277
c SNR016 Senior-Loken Syndrome 9 21 0.049
278
SPR067 Sporadic Adult-Onset Ataxia of Unknown Etiology 21 0.049
279
c STR054 Stargardt Disease 4 19 0.049
280
c WSK002 Wiskott-Aldrich Syndrome 2 18 0.049
281
PSD050 Pseudoxanthoma Elasticum, Forme Fruste 16 0.049
282
XLN092 X-Linked Neurodegenerative Syndrome, Bertini Type 11 0.049
283
HRD105 Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 5 0.049
284
BRS047 Breast Cancer 100 0.035
285
LNG032 Lung Cancer 99 0.035
286
CLR023 Colorectal Cancer 99 0.035
287
DBT026 Diabetes Mellitus, Noninsulin-Dependent 91 0.035
288
HYP607 Hypercholesterolemia, Familial 81 0.035
289
BDY004 Body Mass Index Quantitative Trait Locus 11 78 0.035
290
IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 77 0.035
291
INS024 Insulin-Like Growth Factor I 76 0.035
292
INF038 Influenza 76 0.035
293
HPT021 Hepatitis 75 0.035
294
c HMC039 Hemochromatosis, Type 1 74 0.035
295
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.035
296
APL001 Aplastic Anemia 74 0.035
297
HMN044 Human Immunodeficiency Virus Type 1 74 0.035
298
MYC084 Mycobacterium Tuberculosis 1 74 0.035
299
MLT157 Multiple System Atrophy 1 74 0.035
300
PNM007 Pneumonia 71 0.035
301
LYM017 Lyme Disease 71 0.035
302
WRN001 Werner Syndrome 70 0.035
303
c HPT016 Hepatitis B 70 0.035
304
BRR014 Barrett Esophagus 70 0.035
305
c THR092 Thrombophilia Due to Thrombin Defect 69 0.035
306
SMT004 Smith-Lemli-Opitz Syndrome 69 0.035
307
MYL005 Myelofibrosis 69 0.035
308
ALC004 Alcohol Abuse 69 0.035
309
NRV007 Nervous System Disease 69 0.035
310
APN008 Apnea, Obstructive Sleep 68 0.035
311
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 68 0.035
312
GLN010 Glanzmann Thrombasthenia 68 0.035
313
GLL008 Gilles De La Tourette Syndrome 68 0.035
314
ALC007 Alcohol Dependence 68 0.035
315
DRM006 Dermatitis 68 0.035
316
ISC006 Ischemic Heart Disease 67 0.035
317
KRT019 Keratitis, Hereditary 67 0.035
318
ABT001 Abetalipoproteinemia 67 0.035
319
INC021 Incontinentia Pigmenti 67 0.035
320
CRB039 Cerebrovascular Disease 67 0.035
321
ALL026 Allergic Hypersensitivity Disease 67 0.035
322
ADL030 Adult-Onset Still\'s Disease 67 0.035
323
PRD008 Periodontitis 66 0.035
324
PRT036 Peritonitis 66 0.035
325
SND001 Sandhoff Disease 66 0.035
326
c GLY008 Glycogen Storage Disease Ii 66 0.035
327
ISC004 Ischemia 66 0.035
328
PRD013 Periodic Fever, Familial, Autosomal Dominant 65 0.035
329
ATM095 Autoimmune Disease 65 0.035
330
GST092 Gastroesophageal Reflux 65 0.035
331
RCK004 Rickets 65 0.035
332
c MCR129 Microvascular Complications of Diabetes 1 64 0.035
333
TNG002 Tangier Disease 64 0.035
334
SCR008 Scrub Typhus 64 0.035
335
ALP009 Alopecia Areata 64 0.035
336
TBC004 Tobacco Addiction 64 0.035
337
PMS001 Poems Syndrome 64 0.035
338
LPD008 Lipid Metabolism Disorder 64 0.035
339
CHL065 Cholangiocarcinoma 64 0.035
340
CNT047 Contact Dermatitis 63 0.035
341
IMM167 Immune Deficiency Disease 63 0.035
342
THR024 Thrombosis 63 0.035
343
CLS005 Clouston Syndrome 62 0.035
344
ABD014 Abdominal Obesity-Metabolic Syndrome 1 62 0.035
345
CHR071 Charcot-Marie-Tooth Disease 62 0.035
346
MYL031 Myeloproliferative Neoplasm 62 0.035
347
LPT001 Leptospirosis 62 0.035
348
RFS006 Refsum Disease, Classic 62 0.035
349
CMP010 Complex Regional Pain Syndrome 62 0.035
350
MCR013 Microphthalmia 62 0.035
351
SHW006 Shwachman-Diamond Syndrome 1 62 0.035
352
HYP724 Hyperlipoproteinemia, Type Iii 62 0.035
353
PRP019 Peripheral Nervous System Disease 62 0.035
354
TRC102 Trichothiodystrophy 1, Photosensitive 61 0.035
355
URT039 Urticaria 61 0.035
356
HYP190 Hypoalphalipoproteinemia, Primary 60 0.035
357
KRT001 Keratoconjunctivitis Sicca 60 0.035
358
HYP750 Hypertriglyceridemia, Familial 60 0.035
359
IRN002 Iron Metabolism Disease 60 0.035
360
OCL013 Oculodentodigital Dysplasia 60 0.035
361
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 59 0.035
362
NRP060 Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 59 0.035
363
MYC079 Myoclonic Epilepsy of Lafora 59 0.035
364
c BRD010 Bardet-Biedl Syndrome 1 59 0.035
365
PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 59 0.035
366
STR039 Sturge-Weber Syndrome 59 0.035
367
c BLD124 Bleeding Disorder, Platelet-Type, 11 59 0.035
368
c LRG017 Large Intestine Cancer 59 0.035
369
SHR029 Short Syndrome 59 0.035
370
PLC005 Placental Insufficiency 59 0.035
371
SMT008 Smith-Magenis Syndrome 58 0.035
372
ERY003 Erythema Multiforme 58 0.035
373
PLM010 Pulmonary Edema 58 0.035
374
ACR008 Acrocallosal Syndrome 58 0.035
375
PLY019 Polyneuropathy 58 0.035
376
ANG015 Angioedema 57 0.035
377
c NGH026 Night Blindness, Congenital Stationary, Type 1a 57 0.035
378
CRT016 Carotid Artery Disease 57 0.035
379
ART021 Arteriosclerosis 57 0.035
380
SNS003 Sensory Peripheral Neuropathy 57 0.035
381
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 57 0.035
382
KRT002 Keratomalacia 56 0.035
383
c WRD030 Waardenburg Syndrome, Type 1 56 0.035
384
c ACT075 Acute Myocardial Infarction 56 0.035
385
PLR022 Pleural Disease 56 0.035
386
END040 Endogenous Depression 56 0.035
387
RSP019 Respiratory Distress Syndrome in Premature Infants 56 0.035
388
PRS047 Prostatitis 56 0.035
389
PYL005 Pyelonephritis 56 0.035
390
CNG010 Congenital Stationary Night Blindness 56 0.035
391
ARS001 Aarskog-Scott Syndrome 56 0.035
392
OCL009 Ocular Cancer 56 0.035
393
ACT049 Acute Disseminated Encephalomyelitis 56 0.035
394
MYC087 Mycoplasma Pneumoniae Pneumonia 55 0.035
395
ALP008 Alopecia 55 0.035
396
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 55 0.035
397
HMZ003 Homozygous Familial Hypercholesterolemia 55 0.035
398
NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 55 0.035
399
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 55 0.035
400
PRP080 Peripheral Artery Disease 54 0.035
401
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 54 0.035
402
XRD022 Xeroderma Pigmentosum, Complementation Group D 54 0.035
403
TLN003 Telangiectasis 54 0.035
404
ART002 Arts Syndrome 54 0.035
405
LRY019 Laryngitis 54 0.035
406
CHR005 Chorioamnionitis 54 0.035
407
THY032 Thyroiditis 53 0.035
408
ENT011 Enterocolitis 53 0.035
409
c ALB009 Albinism, Oculocutaneous, Type Ia 53 0.035
410
ATR057 Atrioventricular Block 53 0.035
411
ICH001 Ichthyosis Vulgaris 53 0.035
412
c FBR084 Fibromatosis, Gingival, 1 53 0.035
413
LMB062 Limb Ischemia 53 0.035
414
HYP732 Hyperalphalipoproteinemia 1 53 0.035
415
HYP458 Hyper Ige Syndrome 52 0.035
416
c PSR017 Psoriasis 2 52 0.035
417
CPL006 Capillary Hemangioma 52 0.035
418
RDT013 Radiation Proctitis 52 0.035
419
ELS001 Eales Disease 52 0.035
420
SMT006 Somatoform Disorder 52 0.035
421
HNT002 Hantavirus Pulmonary Syndrome 52 0.035
422
HLL004 Hellp Syndrome 51 0.035
423
CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 51 0.035
424
FML035 Familial Hyperlipidemia 51 0.035
425
CRN030 Coronary Stenosis 51 0.035
426
CRN027 Corneal Neovascularization 51 0.035
427
VSC006 Vascular Cancer 51 0.035
428
BLL001 Baller-Gerold Syndrome 51 0.035
429
HMP009 Haemophilus Influenzae 50 0.035
430
RTC002 Reticular Dysgenesis 50 0.035
431
STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 50 0.035
432
c ATM099 Autoimmune Uveitis 50 0.035
433
PST011 Pustulosis of Palm and Sole 49 0.035
434
MTC069 Mitochondrial Disorders 49 0.035
435
LYM022 Lymphangioma 49 0.035
436
IMM136 Immune System Disease 49 0.035
437
TTH006 Tooth Disease 49 0.035
438
c AXN009 Axenfeld-Rieger Syndrome, Type 1 49 0.035
439
DNR001 Duane Retraction Syndrome 49 0.035
440
FNC044 Fanconi Anemia, Complementation Group C 49 0.035
441
c CNR007 Cone-Rod Dystrophy 6 49 0.035
442
MCL009 Mcleod Syndrome 48 0.035
443
HYP781 Hypoascorbemia 48 0.035
444
c MTR002 Mitral Valve Insufficiency 48 0.035
445
c SPL067 Split-Hand/foot Malformation 1 48 0.035
446
EPT020 Epithelioid Hemangioendothelioma 48 0.035
447
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 48 0.035
448
RTN014 Retinal Artery Occlusion 48 0.035
449
PPL021 Papilledema 48 0.035
450
c HNT010 Huntington Disease-Like 1 48 0.035
451
SLL003 Salla Disease 48 0.035
452
c ALZ056 Alzheimer Disease 3 48 0.035
453
DRG013 Drug-Induced Lupus Erythematosus 47 0.035
454
c PSR023 Psoriasis 1 47 0.035
455
RST011 Restrictive Dermopathy, Lethal 47 0.035
456
CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47 0.035
457
LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 47 0.035
458
ERY017 Erythema Elevatum Diutinum 46 0.035
459
PMP004 Pemphigus Foliaceus 46 0.035
460
c PSR028 Psoriasis 7 46 0.035
461
c PSR032 Psoriasis 11 46 0.035
462
DVR002 Diverticulitis 46 0.035
463
CNG069 Congenital Cytomegalovirus 46 0.035
464
c AML044 Amelogenesis Imperfecta, Type Ig 45 0.035
465
CMP004 Complement Factor I Deficiency 45 0.035
466
c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 45 0.035
467
c PSR018 Psoriasis 13 45 0.035
468
PRL003 Proliferative Glomerulonephritis 45 0.035
469
c ACQ012 Acquired Angioedema 45 0.035
470
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 45 0.035
471
ART004 Aortic Atherosclerosis 45 0.035
472
RTN001 Retinal Vasculitis 45 0.035
473
c SYS043 Systemic Lupus Erythematosus 1 45 0.035
474
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 44 0.035
475
LTX001 Latex Allergy 44 0.035
476
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 44 0.035
477
CRV039 Cervicitis 44 0.035
478
CMP042 Complement Factor H Deficiency 44 0.035
479
PRC003 Proctitis 44 0.035
480
BSL008 Basal Ganglia Disease 43 0.035
481
NNC002 Nance-Horan Syndrome 43 0.035
482
ARC023 Arcus Corneae 43 0.035
483
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 43 0.035
484
RTN021 Retinal Vascular Occlusion 43 0.035
485
HYP081 Hypolipoproteinemia 43 0.035
486
EPD070 Epidermoid Cysts 43 0.035
487
CMP009 Complement Deficiency 43 0.035
488
MYL013 Myeloperoxidase Deficiency 43 0.035
489
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 43 0.035
490
RLP003 Relapsing Fever 42 0.035
491
ART006 Arthus Reaction 42 0.035
492
c BDY019 Body Mass Index Quantitative Trait Locus 18 42 0.035
493
CMP090 Complement Component 3 Deficiency, Autosomal Recessive 42 0.035
494
HYP706 Hypermobile Ehlers-Danlos Syndrome 42 0.035
495
c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 42 0.035
496
CRN285 Corneal Dystrophy, Fleck 42 0.035
497
ANX007 Anauxetic Dysplasia 1 42 0.035
498
LSB001 Louse-Borne Relapsing Fever 42 0.035
499
SPN331 Spondyloocular Syndrome 42 0.035
500
SPS057 Spasticity 42 0.035
501
SMT001 Somatization Disorder 42 0.035
502
NTR003 Natural Killer Cell Leukemia 41 0.035
503
VTR005 Vitreous Disease 41 0.035
504
c BDY020 Body Mass Index Quantitative Trait Locus 19 41 0.035
505
BLP005 Blepharitis 41 0.035
506
ARC016 Auriculocondylar Syndrome 1 41 0.035
507
ACT167 Acute Generalized Exanthematous Pustulosis 41 0.035
508
c BDY017 Body Mass Index Quantitative Trait Locus 14 41 0.035
509
ISL121 Isolated Split Hand-Split Foot Malformation 41 0.035
510
CHR637 Choroidal Dystrophy, Central Areolar, 1 41 0.035
511
STV003 Stuve-Wiedemann Syndrome 40 0.035
512
CHR413 Chronic Myocardial Ischemia 40 0.035
513
c DNR003 Duane Retraction Syndrome 1 40 0.035
514
c LBR019 Leber Congenital Amaurosis 9 40 0.035
515
PHT010 Photoparoxysmal Response 1 40 0.035
516
AYM001 Ayme-Gripp Syndrome 40 0.035
517
ATX038 Ataxia and Polyneuropathy, Adult-Onset 40 0.035
518
DRG024 Drug Allergy 40 0.035
519
c KNB006 Knobloch Syndrome 1 40 0.035
520
c BDY011 Body Mass Index Quantitative Trait Locus 10 40 0.035
521
CMP028 Complement Component 2 Deficiency 40 0.035
522
CHR078 Chorioretinitis 40 0.035
523
RHY001 Rhyns Syndrome 39 0.035
524
c RTN069 Retinitis Pigmentosa 7 39 0.035
525
SPP007 Suppression Amblyopia 39 0.035
526
SPL061 Split Hand-Foot Malformation 39 0.035
527
LPD001 Lipid Pneumonia 38 0.035
528
MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38 0.035
529
OST008 Osteosclerotic Myeloma 38 0.035
530
OPT001 Optic Disk Drusen 38 0.035
531
c CNR016 Cone-Rod Dystrophy 7 38 0.035
532
TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 38 0.035
533
KSH004 Kashin-Beck Disease 38 0.035
534
MTR007 Motor Peripheral Neuropathy 38 0.035
535
LYM043 Lymphocytic Hypophysitis 38 0.035
536
C3G002 C3 Glomerulopathy 37 0.035
537
CRB009 Cerebritis 37 0.035
538
HMC038 Hemochromatosis, Neonatal 37 0.035
539
DYS013 Dysbaric Osteonecrosis 37 0.035
540
XNT009 Xanthoma Disseminatum 37 0.035
541
FNC030 Fanconi Anemia, Complementation Group G 37 0.035
542
EXT035 Extrinsic Cardiomyopathy 37 0.035
543
EPT021 Epithelial Recurrent Erosion Dystrophy 37 0.035
544
CRN031 Cranial Nerve Disease 36 0.035
545
SKN018 Skin Hemangioma 36 0.035
546
ANG007 Angiokeratoma Circumscriptum 36 0.035
547
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 36 0.035
548
CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 35 0.035
549
LBY004 Labyrinthitis 35 0.035
550
DBT007 Diabetic Cataract 35 0.035
551
IRT001 Iritis 34 0.035
552
THR099 Third-Degree Atrioventricular Block 34 0.035
553
ATX019 Ataxia with Vitamin E Deficiency 34 0.035
554
MNG003 Mungan Syndrome 34 0.035
555
OCC002 Occult Macular Dystrophy 34 0.035
556
ADR023 Adrenomyodystrophy 34 0.035
557
PRL001 Purulent Labyrinthitis 34 0.035
558
PRR004 Preretinal Fibrosis 33 0.035
559
HRD016 Hereditary Retinal Dystrophy 33 0.035
560
c BDY005 Body Mass Index Quantitative Trait Locus 9 33 0.035
561
PRM008 Parametritis 33 0.035
562
c RTN041 Retinitis Pigmentosa 11 33 0.035
563
c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 32 0.035
564
KNB001 Knobloch Syndrome 32 0.035
565
c BDY015 Body Mass Index Quantitative Trait Locus 12 32 0.035
566
OPT010 Optic Papillitis 32 0.035
567
ART010 Arteriolosclerosis 31 0.035
568
BST001 Bestrophinopathy 31 0.035
569
c BDY010 Body Mass Index Quantitative Trait Locus 4 31 0.035
570
SVN002 Sveinsson Chorioretinal Atrophy 31 0.035
571
c BDY006 Body Mass Index Quantitative Trait Locus 8 31 0.035
572
c BDY012 Body Mass Index Quantitative Trait Locus 7 31 0.035
573
c NRP062 Neuropathy - Hereditary 31 0.035
574
c CNR006 Cone-Rod Dystrophy 5 31 0.035
575
FRN013 Frontotemporal Dementia, Chromosome 3-Linked 30 0.035
576
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 30 0.035
577
c RTN042 Retinitis Pigmentosa 12 30 0.035
578
NRN002 Neuronitis 30 0.035
579
c BLD140 Blood Group, I System 30 0.035
580
FRT005 Fruit Allergy 29 0.035
581
LSC003 Luscan-Lumish Syndrome 29 0.035
582
CNG376 Congenital Leptin Deficiency 29 0.035
583
CRB147 Cerebellofaciodental Syndrome 28 0.035
584
PRK066 Parkinsonism with Spasticity, X-Linked 27 0.035
585
PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 27 0.035
586
MSL004 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis 27 0.035
587
BLD165 Blood Group, Colton System 27 0.035
588
DST101 Distal Hereditary Motor Neuropathies 27 0.035
589
BLD163 Blood Group, Dombrock System 26 0.035
590
SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 26 0.035
591
c ICH014 Ichthyosis Lamellar 1 25 0.035
592
TRD008 Triiodothyronine Receptor Auxiliary Protein 25 0.035
593
CMP041 Complement Factor D Deficiency 25 0.035
594
c STR040 Stargardt Disease 3 25 0.035
595
PRG074 Progressive Myoclonus Epilepsy, Lafora Type 25 0.035
596
c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 24 0.035
597
PSD004 Pseudomembranous Conjunctivitis 24 0.035
598
PLY150 Polykaryocytosis Inducer 24 0.035
599
c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 23 0.035
600
PHC001 Phacolytic Glaucoma 22 0.035
601
c CNR012 Cone-Rod Dystrophy 11 22 0.035
602
c CNR024 Cone-Rod Dystrophy 13 22 0.035
603
PST092 Posttransplant Acute Limbic Encephalitis 21 0.035
604
CMP063 Complement Factor B Deficiency 21 0.035
605
c RTN065 Retinitis Pigmentosa 36 21 0.035
606
PTT054 Patterned Macular Dystrophy 21 0.035
607
MRN005 Marie Unna Congenital Hypotrichosis 21 0.035
608
LGR001 Laugier-Hunziker Syndrome 20 0.035
609
BSL001 Basilar Artery Insufficiency 20 0.035
610
RDN004 Radin Blood Group Antigen 19 0.035
611
ORB003 Orbital Tenonitis 17 0.035
612
DNV002 De Novo Thrombotic Microangiopathy After Kidney Transplantation 13 0.035
613
c MJR014 Major Depressive Disorder 2 12 0.035
614
HST002 Histoplasmosis Retinitis 8 0.035
Content
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