Search results for "glaucoma"

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

693 hits were found for 'glaucoma'

# Family MCID Name MIFTS Score
1
P OPN001 Open-Angle Glaucoma 59 5.813
2
PRM024 Primary Angle-Closure Glaucoma 52 5.315
3
c GLC062 Glaucoma 1, Open Angle, E 38 4.989
4
c GLC075 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 44 4.769
5
NVS001 Neovascular Glaucoma 43 4.722
6
c GLC083 Glaucoma 3, Primary Infantile, B 25 4.524
7
LWT001 Low Tension Glaucoma 37 4.521
8
c GLC074 Glaucoma 1a, Primary Open Angle 35 4.338
9
STR019 Steroid-Induced Glaucoma 24 3.783
10
c CHR054 Chronic Closed-Angle Glaucoma 12 3.582
11
INT012 Interval Angle-Closure Glaucoma 20 3.553
12
c PRM032 Primary Congenital Glaucoma 30 3.396
13
P JVN008 Juvenile Glaucoma 31 3.372
14
MGL005 Megalocornea - Spherophakia - Secondary Glaucoma 12 3.338
15
STR016 Steroid-Induced Glaucoma - Borderline 5 3.290
16
c ERL012 Early-Onset Glaucoma 32 3.173
17
P ACT028 Acute Closed-Angle Glaucoma 17 3.121
18
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 13 3.054
19
GLC031 Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome 17 3.026
20
FRD005 Friedreich Ataxia Congenital Glaucoma 8 3.026
21
c GLC059 Glaucoma 1, Open Angle, 1o 15 3.015
22
c GLC049 Glaucoma, Primary Open Angle, Juvenile-Onset, 2 11 3.003
23
RSD001 Residual Stage Angle-Closure Glaucoma 4 3.003
24
TRM002 Traumatic Glaucoma 10 2.829
25
MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 14 2.741
26
ACK001 Ackerman Syndrome 22 2.732
27
DYS050 Dyssegmental Dysplasia and Glaucoma 12 2.722
28
CHR150 Charcot-Marie-Tooth Disease Type 4b2 with Early-Onset Glaucoma 3 2.722
29
GLC028 Glaucoma Sleep Apnea 10 2.711
30
c GLC054 Glaucoma 3, Primary Congenital, D 21 2.699
31
P GLC060 Glaucoma 1, Open Angle, G 13 2.699
32
c GLC051 Glaucoma 1, Open Angle, M 8 2.699
33
EXF001 Exfoliation Syndrome 59 2.691
34
c GLC048 Glaucoma 1, Open Angle, I 13 2.686
35
c GLC078 Glaucoma 1, Open Angle, F 11 2.686
36
P GLC076 Glaucoma 1, Open Angle, H 6 2.686
37
RSD002 Residual Stage of Open Angle Glaucoma 4 2.686
38
PHC001 Phacolytic Glaucoma 15 2.602
39
CTR027 Cataract-Glaucoma 16 2.478
40
PTR006 Peters Anomaly 75 2.445
41
c GLC079 Glaucoma 1, Open Angle, P 13 2.405
42
P IRD007 Iridogoniodysgenesis, Type 1 24 2.396
43
TTR009 Tetralogy of Fallot and Glaucoma 6 2.366
44
MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 17 2.354
45
SPS048 Spastic Paresis Glaucoma Mental Retardation 10 2.354
46
BRD008 Borderline Glaucoma 9 2.354
47
HYP023 Hypersecretion Glaucoma 5 2.354
48
c GLC052 Glaucoma 3, Primary Congenital, C 10 2.326
49
c GLC080 Glaucoma 1, Open Angle, N 8 2.326
50
RSD003 Residual Stage Corticosteroid-Induced Glaucoma 4 2.326
51
PHC002 Phacogenic Glaucoma 3 2.326
52
ANT015 Anatomical Narrow Angle Borderline Glaucoma 3 2.326
53
GLC084 Glaucoma, Normal Tension 20 2.013
54
c GLC032 Glaucoma, Hereditary 7 1.957
55
SPS144 Spastic Paraplegia - Glaucoma - Intellectual Disability 7 1.932
56
PHC015 Phacoanaphylactic Uveitis 16 1.917
57
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 34 1.899
58
c CYP002 Cyp1b1-Related Primary Congenital Glaucoma 8 1.899
59
c LTB001 Ltbp2-Related Primary Congenital Glaucoma 8 1.899
60
c GLC029 Glaucoma Type 1c 4 1.899
61
c GLC033 Glaucoma, Hereditary Adult Type 1a 4 1.899
62
c GLC034 Glaucoma, Hereditary Juvenile Type 1b 4 1.899
63
c GLC035 Glaucoma, Primary Infantile Type 3a 4 1.899
64
SCR032 Scarring in Glaucoma Filtration Surgical Procedures 4 1.899
65
GLC027 Glaucoma Iridogoniodysgenesia 1 1.899
66
PGM005 Pigment Dispersion Syndrome 27 1.581
67
LWR007 Lowry Maclean Syndrome 22 1.398
68
PSD045 Pseudoprogeria Syndrome 22 1.398
69
BWN002 Bowen Syndrome 16 1.384
70
c IRD006 Iridogoniodysgenesis, Dominant Type 19 1.366
71
c VTR009 Vitreoretinochoroidopathy Dominant 24 1.343
72
GHS002 Ghose Sachdev Kumar Syndrome 2 1.343
73
OCL006 Ocular Hypertension 54 0.506
74
RTN023 Retinitis 51 0.380
75
P CTR002 Cataract 58 0.310
76
END072 Endotheliitis 51 0.194
77
WBR001 Weber Syndrome 50 0.190
78
ANR002 Aniridia 71 0.173
79
P MYP006 Myopia 47 0.171
80
P UVT001 Uveitis 64 0.162
81
CHR008 Choroiditis 52 0.157
82
P NRP001 Neuropathy 60 0.149
83
P RTN022 Retinal Vein Occlusion 55 0.141
84
P BLN003 Blindness 54 0.141
85
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 42 0.139
86
c CNT016 Central Retinal Vein Occlusion 56 0.133
87
P TRC086 Trichohepatoenteric Syndrome 1 45 0.121
88
ECT005 Ectropion 42 0.121
89
BPH001 Buphthalmos 31 0.121
90
RBS002 Rubeosis Iridis 20 0.118
91
MLN008 Melanoma 63 0.114
92
ACN002 Acanthosis Nigricans 63 0.111
93
EYD002 Eye Disease 61 0.111
94
P ATX010 Ataxia Neuropathy Spectrum 29 0.111
95
THR013 Thoracic Outlet Syndrome 52 0.107
96
KRT004 Keratitis 69 0.104
97
P END047 Endophthalmitis 59 0.104
98
RTN017 Retinal Detachment 55 0.104
99
P RBN001 Rubinstein-Taybi Syndrome 77 0.100
100
P SCL015 Scleritis 59 0.100
101
P SPR013 Spiradenoma 54 0.100
102
KRT008 Keratopathy 49 0.100
103
P WLL002 Weill-Marchesani Syndrome 52 0.096
104
P AXN010 Axenfeld-Rieger Syndrome, Type 3 57 0.092
105
c ANT034 Anterior Uveitis 51 0.092
106
SCT002 Scotoma 39 0.092
107
NLP001 Nail-Patella Syndrome 71 0.088
108
CTS003 Coats Disease 58 0.088
109
ISC002 Ischemic Optic Neuropathy 56 0.088
110
P RTN014 Retinal Artery Occlusion 55 0.088
111
IRD001 Iridocyclitis 37 0.088
112
NRR001 Neuroretinitis 28 0.088
113
CNG335 Congenital Ectropion Uveae 14 0.088
114
MRF001 Marfan Syndrome 86 0.083
115
P NRF002 Neurofibromatosis 79 0.083
116
MGR002 Migraine 75 0.083
117
P RTN025 Retinoschisis 58 0.083
118
SCH016 Schimke Immunoosseous Dysplasia 53 0.083
119
MNN014 Mononeuritis 49 0.083
120
P CRN026 Corneal Edema 45 0.083
121
TTR016 Tetra-Amelia Syndrome 42 0.083
122
SNL007 Senile Cataract 42 0.083
123
LNS001 Lens Subluxation 38 0.083
124
P RTN008 Retinitis Pigmentosa 83 0.078
125
AND015 Androgen Insensitivity 78 0.078
126
P THY032 Thyroiditis 65 0.078
127
P EXP004 Exophthalmos 54 0.078
128
P ISL078 Isolated Ectopia Lentis 36 0.078
129
HPT023 Hepatocellular Carcinoma 100 0.073
130
ISC004 Ischemia 61 0.073
131
P CNJ013 Conjunctivitis 61 0.073
132
P MNT147 Mental Retardation 56 0.073
133
SYM002 Sympathetic Ophthalmia 53 0.073
134
c CNT028 Central Retinal Artery Occlusion 51 0.073
135
CRN024 Corneal Disease 51 0.073
136
CTS011 Cutis Marmorata Telangiectatica Congenita 45 0.073
137
BLL004 Bullous Keratopathy 42 0.073
138
OCL010 Ocular Hypotension 27 0.073
139
NVS007 Nevus of Ota 25 0.073
140
CGN001 Cogan-Reese Syndrome 20 0.073
141
P ANG001 Angelman Syndrome 76 0.068
142
c NRF018 Neurofibromatosis, Type 1 73 0.068
143
P ACR001 Aicardi-Goutieres Syndrome 62 0.068
144
P UVL004 Uveal Melanoma 61 0.068
145
P SHR029 Short Syndrome 57 0.068
146
c SPN225 Spondyloarthropathy 1 52 0.068
147
CRN025 Corneal Dystrophy 45 0.068
148
GPS001 Gapo Syndrome 43 0.068
149
CRB009 Cerebritis 37 0.068
150
c ART101 Aortic Valve Disease 2 37 0.068
151
UND005 Undifferentiated Pleomorphic Sarcoma 30 0.068
152
INT065 Interstitial Keratitis 25 0.068
153
HYP084 Hypopyon 24 0.068
154
P PLM037 Pulmonary Hypertension 92 0.062
155
P ATX030 Ataxia-Telangiectasia 86 0.062
156
c AMY091 Amyotrophic Lateral Sclerosis 1 81 0.062
157
P ART022 Arthritis 74 0.062
158
DMN002 Dementia 65 0.062
159
ADN018 Adenoma 64 0.062
160
c HYP595 Hypertension, Essential 62 0.062
161
P AND016 Andersen Syndrome 61 0.062
162
KRN002 Kearns-Sayre Syndrome 60 0.062
163
NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 60 0.062
164
OCL005 Oculocerebrorenal Syndrome 59 0.062
165
P OCL013 Oculodentodigital Dysplasia 57 0.062
166
ART001 Arterial Tortuosity Syndrome 56 0.062
167
c MCP037 Mucopolysaccharidosis is 53 0.062
168
c JVN042 Juvenile Retinoschisis 47 0.062
169
RFR003 Refractive Error 47 0.062
170
RTN003 Retinal Ischemia 46 0.062
171
ATN005 Autonomic Dysfunction 45 0.062
172
NRN002 Neuronitis 42 0.062
173
IRT001 Iritis 41 0.062
174
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 40 0.062
175
OPT006 Optic Nerve Disease 35 0.062
176
TFT003 Tufting Enteropathy 31 0.062
177
ANS004 Anisometropia 26 0.062
178
MGL026 Megalocornea 1, X-Linked 26 0.062
179
IRD003 Iridocorneal Endothelial Syndrome 24 0.062
180
GLC001 Glaucomatocyclitic Crisis 15 0.062
181
AQS001 Aqueous Misdirection 14 0.062
182
P OST005 Osteogenesis Imperfecta 85 0.055
183
P LKM002 Leukemia 76 0.055
184
P CHR071 Charcot-Marie-Tooth Disease 69 0.055
185
P HYD006 Hydrocephalus 65 0.055
186
CLB001 Coloboma 62 0.055
187
ART111 Artery Disease 62 0.055
188
VGT001 Vogt-Koyanagi-Harada Disease 61 0.055
189
MCR013 Microphthalmia 60 0.055
190
MYC002 Mycobacterium Avium Complex Disease 59 0.055
191
P HMC002 Homocystinuria 58 0.055
192
c PST005 Posterior Uveitis 57 0.055
193
ADR008 Adrenal Adenoma 55 0.055
194
PPL021 Papilledema 53 0.055
195
RTN018 Retinal Disease 48 0.055
196
c EHL054 Ehlers-Danlos Syndrome, Type Vi 46 0.055
197
CNJ007 Conjunctivochalasis 45 0.055
198
P RTN016 Retinal Degeneration 44 0.055
199
CRT016 Carotid Artery Disease 44 0.055
200
CRT015 Carotid Artery Occlusion 43 0.055
201
OPT007 Optic Nerve Glioma 39 0.055
202
c AXN009 Axenfeld-Rieger Syndrome, Type 1 34 0.055
203
RGR002 Rieger Syndrome, Type 2 32 0.055
204
PHC006 Phacomatosis Pigmentovascularis 31 0.055
205
HYP362 Hyperopia 28 0.055
206
CHR158 Charles Bonnet Syndrome 24 0.055
207
c BNG076 Benign Exophthalmos Syndrome 21 0.055
208
c PST008 Posterior Scleritis 21 0.055
209
AND005 Androgen Insensitivity Syndrome, Mild 19 0.055
210
ESS005 Essential Iris Atrophy 18 0.055
211
P RHM011 Rheumatoid Arthritis 96 0.048
212
P DBT085 Diabetes Mellitus, Insulin-Dependent 85 0.048
213
P WLF004 Wolfram Syndrome 70 0.048
214
P HMN010 Hemangioma 69 0.048
215
P PNC044 Pancreatitis 68 0.048
216
VSC007 Vascular Disease 67 0.048
217
c MCL042 Macular Degeneration, Age-Related, 1 67 0.048
218
WLL001 Williams-Beuren Syndrome 66 0.048
219
CDL003 Caudal Regression Syndrome 65 0.048
220
VSC011 Vasculitis 65 0.048
221
P HPT021 Hepatitis 63 0.048
222
CYS005 Cysticercosis 62 0.048
223
BSL036 Basal Cell Nevus Syndrome 62 0.048
224
P HST010 Histiocytosis 62 0.048
225
P SCK004 Seckel Syndrome 61 0.048
226
c JVN010 Juvenile Rheumatoid Arthritis 60 0.048
227
P HLL001 Hallermann-Streiff Syndrome 60 0.048
228
P STC001 Stickler Syndrome 59 0.048
229
c CNG124 Congenital Rubella 58 0.048
230
P SLP006 Sleep Apnea 57 0.048
231
P OCL002 Oculocutaneous Albinism 57 0.048
232
CLL003 Cellulitis 57 0.048
233
P BRC006 Brachydactyly 57 0.048
234
HRP004 Herpes Zoster 56 0.048
235
WLF002 Wolf-Hirschhorn Syndrome 56 0.048
236
KRT006 Keratoconjunctivitis 56 0.048
237
P EXD001 Exudative Vitreoretinopathy 56 0.048
238
P CMP008 Compartment Syndrome 54 0.048
239
HYP077 Hypertrichosis 54 0.048
240
MSC077 Muscle Eye Brain Disease 54 0.048
241
TTH006 Tooth Disease 53 0.048
242
P BLP003 Blepharospasm 52 0.048
243
ALB002 Albinism 50 0.048
244
MRS002 Marshall Syndrome 48 0.048
245
VRN004 Vernal Keratoconjunctivitis 47 0.048
246
CHY006 Chylous Ascites 47 0.048
247
AMB002 Amblyopia 46 0.048
248
P MCR260 Microphthalmia, Syndromic 7 45 0.048
249
c OPT053 Optic Atrophy 1 44 0.048
250
MDL002 Medulloepithelioma 43 0.048
251
c MCP012 Mucopolysaccharidosis Ih 42 0.048
252
NNC002 Nance-Horan Syndrome 42 0.048
253
BRN026 Branch Retinal Artery Occlusion 42 0.048
254
AST006 Astigmatism 41 0.048
255
P DSB002 Desbuquois Dysplasia 40 0.048
256
c MCR263 Microphthalmia, Syndromic 1 40 0.048
257
FRN039 Frank-Ter Haar Syndrome 37 0.048
258
SNG007 Sengers Syndrome 36 0.048
259
XLN014 X-Linked Juvenile Retinoschisis 33 0.048
260
BRD005 Borderline Leprosy 32 0.048
261
P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 31 0.048
262
ENT005 Entropion 31 0.048
263
P MCR115 Microvascular Complications of Diabetes 5 31 0.048
264
ORB006 Orbital Cellulitis 29 0.048
265
HRP011 Herpes Zoster Ophthalmicus 25 0.048
266
ISC009 Ischemic Retinopathy 23 0.048
267
ECT033 Ectopia Lentis Et Pupillae 23 0.048
268
CHR247 Chromosome 4p Deletion 20 0.048
269
ANR016 Aniridia Renal Agenesis Psychomotor Retardation 18 0.048
270
ISC001 Ischemic Neuropathy 18 0.048
271
ANR012 Aniridia Absent Patella 16 0.048
272
P FML056 Familial Deafness 16 0.048
273
ORB003 Orbital Tenonitis 10 0.048
274
P CSH001 Cushing's Syndrome 85 0.039
275
SMT004 Smith-Lemli-Opitz Syndrome 85 0.039
276
P PNM007 Pneumonia 76 0.039
277
P ESS003 Essential Thrombocythemia 75 0.039
278
NRR002 Norrie Disease 75 0.039
279
VNH007 Von Hippel-Lindau Syndrome 74 0.039
280
GLL008 Gilles De La Tourette Syndrome 72 0.039
281
MCK007 Muckle-Wells Syndrome 72 0.039
282
MYC006 Mycosis Fungoides 72 0.039
283
P WLM002 Wilms Tumor 71 0.039
284
GLN010 Glanzmann Thrombasthenia 71 0.039
285
ART016 Aortic Aneurysm 71 0.039
286
FBR011 Fibrodysplasia Ossificans Progressiva 71 0.039
287
P FRD001 Friedreich Ataxia 71 0.039
288
P CMR001 Camurati-Engelmann Disease 69 0.039
289
WLK001 Walker-Warburg Syndrome 68 0.039
290
P RTH001 Rothmund-Thomson Syndrome 67 0.039
291
P DST002 Distal Arthrogryposis 67 0.039
292
DRM006 Dermatitis 67 0.039
293
P HRP006 Herpes Simplex 66 0.039
294
P CRN015 Cornelia De Lange Syndrome 66 0.039
295
WGR001 Wagr Syndrome 65 0.039
296
CYS010 Cystinosis 65 0.039
297
ATH003 Atherosclerosis 65 0.039
298
P ANT006 Antiphospholipid Syndrome 64 0.039
299
CRB037 Cerebral Palsy 63 0.039
300
RBR001 Roberts Syndrome 63 0.039
301
P PSR002 Psoriasis 62 0.039
302
P EHL049 Ehlers-Danlos Syndrome Classical Type 62 0.039
303
EDW001 Edwards Syndrome 60 0.039
304
DWN001 Down Syndrome 59 0.039
305
PRL009 Prolactinoma 58 0.039
306
PRT093 Proteus Syndrome, Somatic 58 0.039
307
P ADN016 Adenocarcinoma 57 0.039
308
LNG024 Langerhans-Cell Histiocytosis 57 0.039
309
CRY004 Cryoglobulinemia 57 0.039
310
P LYM026 Lymphoblastic Leukemia 56 0.039
311
OBS061 Obstructive Sleep Apnea 56 0.039
312
TNS005 Tonsillitis 56 0.039
313
P HMR012 Hemorrhagic Fever 56 0.039
314
RNL007 Renal Tubular Acidosis 56 0.039
315
VSC002 Vascular Dementia 55 0.039
316
PSD002 Pseudotumor Cerebri 54 0.039
317
DWR001 Dwarfism 54 0.039
318
c EHL057 Ehlers-Danlos Syndrome, Type Iv 54 0.039
319
PTS001 Patau Syndrome 53 0.039
320
P KRT007 Keratoconus 52 0.039
321
KNS001 Kniest Dysplasia 51 0.039
322
EMP001 Empty Sella Syndrome 50 0.039
323
RTN001 Retinal Vasculitis 49 0.039
324
ERY021 Erythrokeratodermia Variabilis Et Progressiva 48 0.039
325
P ENC011 Encephalomyopathy 48 0.039
326
NRT004 Neuritis 48 0.039
327
CRS005 Crest Syndrome 47 0.039
328
DRY001 Dry Eye Syndrome 47 0.039
329
LMB050 Limbal Stem Cell Deficiency 47 0.039
330
PRP016 Paraplegia 46 0.039
331
P ART084 Arteriovenous Fistula 46 0.039
332
P MSC022 Mosaic Variegated Aneuploidy Syndrome 46 0.039
333
RTN021 Retinal Vascular Occlusion 46 0.039
334
CRT013 Carotid Stenosis 46 0.039
335
ANR040 Aneurysm 45 0.039
336
KRT012 Keratoderma 45 0.039
337
P PRS062 Persistent Hyperplastic Primary Vitreous 45 0.039
338
P LTT001 Lattice Corneal Dystrophy 44 0.039
339
ART110 Arteritic Anterior Ischemic Optic Neuropathy 44 0.039
340
c SRC025 Sarcoidosis 1 43 0.039
341
RSS002 Roussy-Levy Syndrome 43 0.039
342
END060 Endolymphatic Hydrops 40 0.039
343
VTR003 Vitreous Detachment 39 0.039
344
HNN001 Hennekam Syndrome 39 0.039
345
MTC064 Mitochondrial Myopathy and Sideroblastic Anemia 1 38 0.039
346
SDC002 Sed Congenita 38 0.039
347
P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 38 0.039
348
ART012 Aortitis 38 0.039
349
P MTC004 Mitochondrial Encephalomyopathy 38 0.039
350
STF002 Stiff Skin Syndrome 37 0.039
351
SPS057 Spasticity 37 0.039
352
OCH001 Ochronosis 37 0.039
353
P PRK003 Parkes Weber Syndrome 37 0.039
354
PSL001 Pasli Disease 35 0.039
355
PHC004 Phace Syndrome 34 0.039
356
HMC016 Homocystinuria Due to Cbs Deficiency 34 0.039
357
NRT005 North Carolina Macular Dystrophy 34 0.039
358
VSC016 Vasculopathy, Retinal, with Cerebral Leukodystrophy 33 0.039
359
P ANP018 Anophthalmia Plus Syndrome 31 0.039
360
RTS001 Ritscher-Schinzel Syndrome 31 0.039
361
c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 31 0.039
362
MTH044 Mthfr Gene Mutation 30 0.039
363
FCL003 Facial Hemiatrophy 30 0.039
364
P CRN249 Cornea Plana 29 0.039
365
IRS007 Iris Hypoplasia 28 0.039
366
EYL005 Eyelid Disease 28 0.039
367
CPL011 Capillary Malformations, Congenital, 1, Somatic, Mosaic 27 0.039
368
FNL001 Fine-Lubinsky Syndrome 27 0.039
369
c CRN242 Corneal Dystrophy, Fuchs Endothelial, 2 26 0.039
370
MMS001 Momo Syndrome 25 0.039
371
CYC001 Cycloplegia 25 0.039
372
CRN241 Corneal Dystrophy, Congenital Stromal 25 0.039
373
ANT030 Antecubital Pterygium 25 0.039
374
VRN001 Vernal Conjunctivitis 23 0.039
375
BND001 Band Keratopathy 23 0.039
376
CHR225 Chromosome 1q21.1 Duplication Syndrome 23 0.039
377
FCH002 Fuchs' Heterochromic Uveitis 22 0.039
378
PNP001 Panophthalmitis 22 0.039
379
DST044 Distal Trisomy 14q 21 0.039
380
DGN002 Degenerative Myopia 20 0.039
381
c ANT023 Anterior Scleritis 20 0.039
382
OCL055 Oculo-Palato-Cerebral Syndrome 20 0.039
383
ISL011 Isolated Aniridia 18 0.039
384
SCL008 Scleromalacia Perforans 18 0.039
385
NGB001 Naguib-Richieri-Costa Syndrome 18 0.039
386
CYT018 Cytochrome P450 2d6 Variant 18 0.039
387
P INT105 Intellectual Disability Multi-Gene Panels 17 0.039
388
XLN129 X-Linked Intellectual Disability, Armfield Type 16 0.039
389
DST072 Distal Monosomy 6p 16 0.039
390
PLL007 Pillay Syndrome 16 0.039
391
BLP014 Blepharoptosis Myopia Ectopia Lentis 15 0.039
392
SHR016 Short Stature Deafness Neutrophil Dysfunction 14 0.039
393
PSN006 Posner-Schlossman Syndrome 14 0.039
394
UVL007 Uveal Coloboma - Cleft Lip and Palate - Intellectual Disability 13 0.039
395
HYD007 Hydrophthalmos 13 0.039
396
17Q005 17q12 Microduplication Syndrome 13 0.039
397
VNH004 Von Hippel Anomaly 11 0.039
398
RTN005 Retinal Lattice Degeneration 9 0.039
399
P ALZ034 Alzheimer Disease 99 0.028
400
P LNG032 Lung Cancer 95 0.028
401
P ALG002 Alagille Syndrome 84 0.028
402
WLS001 Wilson Disease 82 0.028
403
CDS001 Cadasil 81 0.028
404
P HRD008 Hereditary Hemorrhagic Telangiectasia 79 0.028
405
SCK003 Sickle Cell Anemia 79 0.028
406
HV1006 Hiv-1 79 0.028
407
P WSK001 Wiskott-Aldrich Syndrome 79 0.028
408
c FNC027 Fanconi Anemia, Complementation Group a 78 0.028
409
PTZ001 Peutz-Jeghers Syndrome 78 0.028
410
TTR001 Tetralogy of Fallot 76 0.028
411
P HLP001 Holoprosencephaly 75 0.028
412
P BRD002 Bardet-Biedl Syndrome 75 0.028
413
CRH001 Crohn's Disease 75 0.028
414
P PRD006 Prader-Willi Syndrome 73 0.028
415
P NRB001 Neuroblastoma 72 0.028
416
RLP001 Relapsing Polychondritis 72 0.028
417
WRN001 Werner Syndrome 72 0.028
418
c PRK057 Parkinson Disease, Late-Onset 70 0.028
419
P CNG401 Congenital Heart Disease 70 0.028
420
PLL001 Pallister-Hall Syndrome 69 0.028
421
c CNG006 Congenital Hypothyroidism 69 0.028
422
BLS001 Blau Syndrome 69 0.028
423
P CRN037 Craniosynostosis 69 0.028
424
P HYP086 Hypothyroidism 68 0.028
425
ALC007 Alcohol Dependence 68 0.028
426
P RSP003 Respiratory Failure 68 0.028
427
c MCP024 Mucopolysaccharidosis Type Vi 68 0.028
428
c MLG068 Malignant Glioma 67 0.028
429
P ORT004 Orthostatic Intolerance 67 0.028
430
c MTB001 Metabolic Syndrome X 67 0.028
431
ALS001 Alstrom Syndrome 67 0.028
432
CRB039 Cerebrovascular Disease 66 0.028
433
PRP027 Peripheral Vascular Disease 66 0.028
434
RHM001 Rheumatic Fever 66 0.028
435
ACT049 Acute Disseminated Encephalomyelitis 66 0.028
436
P WRD001 Waardenburg's Syndrome 65 0.028
437
CRY002 Cryptorchidism 65 0.028
438
ALK013 Alkaptonuria 65 0.028
439
CNR002 Cone-Rod Dystrophy 65 0.028
440
P TXP001 Toxoplasmosis 65 0.028
441
P ENC004 Encephalitis 64 0.028
442
P HMP007 Hemophilia 64 0.028
443
LDD001 Ladd Syndrome 64 0.028
444
NRM002 Normal Pressure Hydrocephalus 64 0.028
445
c VRL007 Viral Encephalitis 64 0.028
446
P MCP010 Mucopolysaccharidosis 64 0.028
447
P USH001 Usher Syndrome 64 0.028
448
CCT002 Cicatricial Pemphigoid 63 0.028
449
P NRN021 Neuronal Ceroid Lipofuscinosis 63 0.028
450
GRV001 Graves' Disease 63 0.028
451
c HRD010 Hereditary Spastic Paraplegia 62 0.028
452
P RBL001 Rubella 62 0.028
453
P ART023 Arthropathy 62 0.028
454
OLL001 Ollier Disease 62 0.028
455
P FTL001 Fetal Alcohol Syndrome 62 0.028
456
HYD012 Hydrops Fetalis 61 0.028
457
P MLT074 Multiple Endocrine Neoplasia 61 0.028
458
ART005 Arteriovenous Malformation 61 0.028
459
LRN003 Learning Disability 61 0.028
460
LWS003 Lowe Syndrome 61 0.028
461
DSS009 Disseminated Intravascular Coagulation 60 0.028
462
P ANG015 Angioedema 60 0.028
463
P PTT014 Pitt-Hopkins Syndrome 60 0.028
464
RSD004 Rosai-Dorfman Disease 60 0.028
465
HMR004 Hemorrhagic Fever with Renal Syndrome 60 0.028
466
PLY056 Polyposis, Juvenile Intestinal 60 0.028
467
P PLY019 Polyneuropathy 60 0.028
468
APP015 Apparent Mineralocorticoid Excess 59 0.028
469
P NRM001 Neuromyelitis Optica 59 0.028
470
c LKM062 Leukemia, Acute Lymphoblastic 59 0.028
471
THR004 Thrombocytosis 59 0.028
472
MLT001 Multiple Chemical Sensitivity 59 0.028
473
P MMP001 Mumps 58 0.028
474
ALP008 Alopecia 58 0.028
475
RNL015 Renal Hypertension 58 0.028
476
P ATX004 Ataxia 58 0.028
477
CHN010 Chondroma 57 0.028
478
c XRD012 Xeroderma Pigmentosum, Group D 57 0.028
479
P STR022 Stargardt Disease 57 0.028
480
INT054 Intraocular Lymphoma 57 0.028
481
P MLS001 Melas Syndrome 57 0.028
482
HYP266 Hypoxia 57 0.028
483
LRY018 Laryngeal Squamous Cell Carcinoma 56 0.028
484
c BRD010 Bardet-Biedl Syndrome 1 56 0.028
485
P PLY006 Polydactyly 56 0.028
486
ECT006 Ectodermal Dysplasia 56 0.028
487
P SNS014 Sinusitis 56 0.028
488
CYT005 Cytomegalovirus Retinitis 56 0.028
489
P SDR002 Siderosis 56 0.028
490
P VTL001 Vitelliform Macular Dystrophy 55 0.028
491
P MTC069 Mitochondrial Disorders 55 0.028
492
ORL004 Oral Submucous Fibrosis 55 0.028
493
P VNT002 Ventricular Septal Defect 55 0.028
494
FCH001 Fuchs' Endothelial Dystrophy 54 0.028
495
CRD005 Cardia Cancer 54 0.028
496
CNT047 Contact Dermatitis 54 0.028
497
NPH004 Nephropathia Epidemica 54 0.028
498
LYM022 Lymphangioma 54 0.028
499
ART017 Aortic Disease 53 0.028
500
P CRN028 Corneal Ulcer 53 0.028
501
STS002 Situs Inversus 53 0.028
502
c PND001 Pain Disorder 53 0.028
503
NPH051 Nephritis 53 0.028
504
ORL011 Oral Cancer 53 0.028
505
PTT037 Pituitary Tumors 53 0.028
506
c JVN003 Juvenile Xanthogranuloma 53 0.028
507
P INF032 Infertility 53 0.028
508
ALL010 Allergic Contact Dermatitis 53 0.028
509
HPY002 H. Pylori Infection 53 0.028
510
TLR001 Tularemia 52 0.028
511
P GLP001 Geleophysic Dysplasia 52 0.028
512
P ADM011 Adams-Oliver Syndrome 52 0.028
513
DFF019 Diffuse Gastric Cancer 52 0.028
514
IMP005 Impotence 52 0.028
515
OCL020 Ocular Cicatricial Pemphigoid 52 0.028
516
ACQ007 Acquired Immunodeficiency Syndrome 51 0.028
517
PNV001 Panuveitis 51 0.028
518
P D2H001 D-2-Hydroxyglutaric Aciduria 51 0.028
519
MLK003 Melkersson-Rosenthal Syndrome 51 0.028
520
P STR020 Strabismus 51 0.028
521
HMP005 Hemiplegia 51 0.028
522
ONC002 Onchocerciasis 51 0.028
523
P ALC004 Alcohol Abuse 51 0.028
524
HYP037 Hyperhomocysteinemia 51 0.028
525
OLG006 Oligoastrocytoma 51 0.028
526
DRG011 Drug Addiction 51 0.028
527
P NNT009 Neonatal Diabetes Mellitus 51 0.028
528
INT075 Intracranial Hypertension 50 0.028
529
P LTR001 Lateral Sclerosis 50 0.028
530
P TCL004 T-Cell Leukemia 50 0.028
531
MCL003 Macular Holes 50 0.028
532
P HYP009 Hypertrophic Pyloric Stenosis 49 0.028
533
P GGN002 Gigantism 49 0.028
534
OPT009 Optic Neuritis 49 0.028
535
OPT037 Optic Nerve Hypoplasia 49 0.028
536
CCN002 Cocaine Abuse 49 0.028
537
ASB001 Asbestosis 49 0.028
538
PYL006 Pyloric Stenosis 49 0.028
539
CTS002 Cat-Scratch Disease 49 0.028
540
KLP010 Klippel-Trenaunay-Weber Syndrome 48 0.028
541
DRG002 Drug-Induced Hepatitis 48 0.028
542
P INT060 Intestinal Atresia 48 0.028
543
CNG069 Congenital Cytomegalovirus 48 0.028
544
LCH009 Lichen Sclerosus 48 0.028
545
BRN106 Burns 48 0.028
546
HDN002 Head Injury 48 0.028
547
MNN021 Meningococcemia 48 0.028
548
P EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 47 0.028
549
HYP017 Hypophosphatemia 47 0.028
550
MFF001 Maffucci Syndrome 47 0.028
551
MTG002 Mutagen Sensitivity 46 0.028
552
c ADL017 Adult T-Cell Leukemia 46 0.028
553
P CNG024 Congenital Nystagmus 46 0.028
554
P OTP001 Otopalatodigital Syndrome 46 0.028
555
LKP003 Leukoplakia 46 0.028
556
c OTP007 Otopalatodigital Syndrome, Type Ii 45 0.028
557
FND002 Fundus Dystrophy 45 0.028
558
P WGN003 Wagner Syndrome 45 0.028
559
FTL007 Fetal Hydantoin Syndrome 45 0.028
560
P PTS002 Ptosis 44 0.028
561
c OPT055 Optic Atrophy Plus Syndrome 44 0.028
562
P NRL007 Neurologic Diseases 44 0.028
563
CHN015 Chondrodysplasia 43 0.028
564
ENC014 Enchondroma 43 0.028
565
CYT008 Cytomegalovirus Infection 43 0.028
566
P HRN001 Horner's Syndrome 42 0.028
567
PRL017 Prolymphocytic Leukemia 42 0.028
568
P PRX033 Proximal Renal Tubular Acidosis 42 0.028
569
c INF069 Infantile Neuroaxonal Dystrophy 1 42 0.028
570
c CNG216 Congenital Hydrocephalus 41 0.028
571
EMN001 Emanuel Syndrome 41 0.028
572
DBT007 Diabetic Cataract 41 0.028
573
CLF027 Cleft Palate, Isolated 41 0.028
574
P HYP265 Hypotonia 41 0.028
575
AMR003 Amaurosis Fugax 40 0.028
576
ALB014 Alobar Holoprosencephaly 40 0.028
577
RTN020 Retinal Vascular Disease 40 0.028
578
c OTP006 Otopalatodigital Syndrome, Type I 40 0.028
579
INT016 Intraductal Papilloma 40 0.028
580
CNT060 Central Serous Chorioretinopathy 40 0.028
581
P ANT026 Anterior Segment Mesenchymal Dysgenesis 40 0.028
582
OCL025 Ocular Toxoplasmosis 40 0.028
583
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 39 0.028
584
FCS012 Facioscapulohumeral Muscular Dystrophy 1 39 0.028
585
GNT006 Giant Papillary Conjunctivitis 39 0.028
586
OLV002 Oliver Syndrome 38 0.028
587
PLM029 Palmoplantar Keratosis 38 0.028
588
ANG037 Angiomatosis 38 0.028
589
c STC015 Stickler Syndrome, Type I 38 0.028
590
SPC005 Speech Disorder 37 0.028
591
OCL022 Ocular Melanoma 37 0.028
592
P MYS033 Miyoshi Muscular Dystrophy 1 37 0.028
593
c OST037 Osteogenesis Imperfecta Type 2b 37 0.028
594
CHN003 Chondroblastic Osteosarcoma 37 0.028
595
PPL019 Papillary Conjunctivitis 37 0.028
596
HNS001 Hansen's Disease 37 0.028
597
MLL002 Miller Fisher Syndrome 37 0.028
598
NRP016 Neuropathy, Recurrent, with Pressure Palsies 36 0.028
599
c LRS002 Larsen-Like Syndrome 36 0.028
600
P DYS005 Dyslexia 36 0.028
601
BST007 Best Vitelliform Macular Dystrophy 35 0.028
602
HYP264 Hypertonia 35 0.028
603
OCC002 Occult Macular Dystrophy 35 0.028
604
TBS001 Tabes Dorsalis 35 0.028
605
ADS002 Adie Syndrome 34 0.028
606
SRT001 Sertoli Cell-Only Syndrome 34 0.028
607
ACN019 Acanthamoeba Keratitis 34 0.028
608
P 2HY001 2-Hydroxyglutaric Aciduria 34 0.028
609
ABL001 Ablepharon Macrostomia Syndrome 34 0.028
610
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 34 0.028
611
ORB014 Orbital Lymphangioma 33 0.028
612
INT080 Intraocular Melanoma 33 0.028
613
LYS016 Loeys-Dietz Syndrome, Type 3 32 0.028
614
MLT133 Multicentric Castleman’s Disease 32 0.028
615
c STC013 Stickler Syndrome, Type Ii 32 0.028
616
c CTR130 Cataract 9, Multiple Types 32 0.028
617
NTR005 Nutritional Deficiency Disease 31 0.028
618
CHR518 Chromosome 9p Deletion Syndrome 31 0.028
619
ATH001 Athabaskan Brainstem Dysgenesis Syndrome 31 0.028
620
CNG122 Congenital Pulmonary Lymphangiectasia 31 0.028
621
P BST001 Bestrophinopathy 30 0.028
622
c RNG022 Ring Chromosome 6 30 0.028
623
P CMM008 Communicating Hydrocephalus 29 0.028
624
c FRN011 Frontal Sinusitis 29 0.028
625
HNM002 Hinman Syndrome 29 0.028
626
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 29 0.028
627
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 29 0.028
628
AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 28 0.028
629
ACR041 Acromelic Frontonasal Dysostosis 28 0.028
630
RNL070 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities 27 0.028
631
WYB001 Wyburn Mason's Syndrome 27 0.028
632
NRT011 Neurotrophic Keratopathy 27 0.028
633
P VTR010 Vitreoretinochoroidopathy 27 0.028
634
INT003 Intracranial Hypotension 27 0.028
635
NNS006 Non-Suppurative Otitis Media 27 0.028
636
P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 27 0.028
637
c WLL027 Weill-Marchesani Syndrome 1, Recessive 27 0.028
638
MTR007 Motor Peripheral Neuropathy 27 0.028
639
LRY026 Laryngeal Cleft 26 0.028
640
c WLL026 Weill-Marchesani Syndrome 2, Dominant 25 0.028
641
CRN230 Corneal Opacification and Other Ocular Anomalies 25 0.028
642
SNS003 Sensory Peripheral Neuropathy 25 0.028
643
KRN001 Korean Hemorrhagic Fever 25 0.028
644
EXC003 Excessive Tearing 24 0.028
645
P CNG005 Congenital Aphakia 24 0.028
646
c IRD008 Iridogoniodysgenesis, Type 2 24 0.028
647
HYP179 Hypertrichosis Congenital Generalized X-Linked 23 0.028
648
c SPS042 Spastic Paraplegia 9 23 0.028
649
ANG022 Angel Shaped Phalangoepiphyseal Dysplasia 23 0.028
650
MCR067 Microcoria, Congenital 23 0.028
651
c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 23 0.028
652
INT033 Intracranial Chondrosarcoma 23 0.028
653
CHN008 Chandler Syndrome 23 0.028
654
PRK066 Parkinsonism with Spasticity, X-Linked 23 0.028
655
CLB009 Coloboma of Iris 23 0.028
656
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 22 0.028
657
c MCR129 Microvascular Complications of Diabetes 1 22 0.028
658
c ACT067 Acute Conjunctivitis 22 0.028
659
c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 21 0.028
660
c PRX059 Peroxisome Biogenesis Disorder 1a 21 0.028
661
EPT021 Epithelial Recurrent Erosion Dystrophy 20 0.028
662
c CTR133 Cataract 22, Autosomal Recessive 20 0.028
663
CLR033 Color Vision Deficiency 20 0.028
664
ARC001 Arcus Senilis 20 0.028
665
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 20 0.028
666
MTR001 Mature Cataract 19 0.028
667
c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 19 0.028
668
c WLL011 Weill-Marchesani-Like Syndrome 19 0.028
669
c PRM016 Primary Optic Atrophy 19 0.028
670
HMC030 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 19 0.028
671
MRG001 Morgagni Cataract 19 0.028
672
c MCR261 Microphthalmia, Syndromic 2 18 0.028
673
PLS001 Pulsating Exophthalmos 18 0.028
674
HTR005 Heterochromia Iridis 18 0.028
675
MLT123 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 18 0.028
676
ACT038 Acute Retrobulbar Neuritis 18 0.028
677
c WGN005 Wagner Syndrome 1 17 0.028
678
3MC002 3mc Syndrome 1 16 0.028
679
c WRB005 Warburg Micro Syndrome 4 16 0.028
680
PRG057 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 5 16 0.028
681
DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 15 0.028
682
c CTR139 Cataract 42 15 0.028
683
c MCR211 Microphthalmia, Isolated 6 15 0.028
684
OCL067 Ocular Cystinosis 14 0.028
685
c MCR124 Microphthalmia, Isolated 1 14 0.028
686
CNG395 Congenital Retinal Arteriovenous Communication 14 0.028
687
ORB016 Orbital Varix 14 0.028
688
CRN004 Corneal Abscess 13 0.028
689
CHR502 Chromosome 17q12 Duplication Syndrome 11 0.028
690
CHR223 Chromosome 1q Deletion 11 0.028
691
PRF002 Perforated Corneal Ulcer 10 0.028
692
PHK008 Phakomatosis Cesioflammea 9 0.028
693
CHR240 Chromosome 2q Duplication 8 0.028