Search results for "glaucomae"

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

683 hits were found for 'glaucomae'

# Family MCID Name MIFTS Score
1
c OPN001 Open-Angle Glaucoma 60 6.411
2
c PRM010 Primary Open Angle Glaucoma 55 5.714
3
PRM024 Primary Angle-Closure Glaucoma 54 5.306
4
LWT001 Low Tension Glaucoma 41 4.724
5
NVS001 Neovascular Glaucoma 44 4.718
6
P GLC026 Glaucoma 3 Primary Infantile B 16 4.483
7
STR019 Steroid-Induced Glaucoma 26 3.779
8
c PRM049 Primary Open Angle Glaucoma Juvenile Onset 1 19 3.624
9
P GLC074 Glaucoma 1a, Primary Open Angle 33 3.602
10
P CHR054 Chronic Closed-Angle Glaucoma 15 3.578
11
INT012 Interval Angle-Closure Glaucoma 22 3.540
12
c GLC075 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 35 3.411
13
c PRM032 Primary Congenital Glaucoma 30 3.369
14
MGL005 Megalocornea - Spherophakia - Secondary Glaucoma 20 3.318
15
STR016 Steroid-Induced Glaucoma - Borderline 8 3.277
16
c ERL012 Early-Onset Glaucoma 32 3.166
17
c ACT028 Acute Closed-Angle Glaucoma 19 3.112
18
c JVN008 Juvenile Glaucoma 32 3.068
19
IRS004 Iris Hypoplasia and Glaucoma 15 3.025
20
MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 15 3.025
21
RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 13 3.025
22
FRD005 Friedreich Ataxia Congenital Glaucoma 8 3.015
23
RSD001 Residual Stage Angle-Closure Glaucoma 6 2.992
24
TRM002 Traumatic Glaucoma 12 2.823
25
P GLC030 Glaucoma, Congenital 31 2.759
26
CHR150 Charcot-Marie-Tooth Disease Type 4b2 with Early-Onset Glaucoma 3 2.713
27
GLC028 Glaucoma Sleep Apnea 10 2.689
28
DYS050 Dyssegmental Dysplasia and Glaucoma 9 2.689
29
EXF001 Exfoliation Syndrome 57 2.681
30
RSD002 Residual Stage of Open Angle Glaucoma 6 2.676
31
PHC001 Phacolytic Glaucoma 16 2.601
32
CTR027 Cataract-Glaucoma 16 2.473
33
ACK001 Ackerman Syndrome 23 2.346
34
BRD008 Borderline Glaucoma 11 2.346
35
HYP023 Hypersecretion Glaucoma 7 2.346
36
TTR009 Tetralogy of Fallot and Glaucoma 3 2.346
37
SPS144 Spastic Paraplegia - Glaucoma - Intellectual Disability 8 2.333
38
SPS048 Spastic Paresis Glaucoma Mental Retardation 7 2.333
39
RSD003 Residual Stage Corticosteroid-Induced Glaucoma 6 2.317
40
GLC031 Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome 5 2.317
41
PHC002 Phacogenic Glaucoma 5 2.317
42
ANT015 Anatomical Narrow Angle Borderline Glaucoma 5 2.317
43
P GLC062 Glaucoma 1, Open Angle, E 16 2.025
44
PTR006 Peters Plus Syndrome 68 1.962
45
c GLC032 Glaucoma, Hereditary 7 1.951
46
PHC015 Phacoanaphylactic Uveitis 15 1.910
47
c GLC054 Glaucoma 3, Primary Congenital, D 13 1.892
48
c GLC059 Glaucoma 1, Open Angle, 1o 9 1.892
49
c GLC044 Glaucoma 1b, Primary Open Angle, Adult Onset 8 1.892
50
c GLC045 Glaucoma 1c, Primary Open Angle 8 1.892
51
c GLC046 Glaucoma 1d, Primary Open Angle 8 1.892
52
c GLC048 Glaucoma 1, Open Angle, I 8 1.892
53
c GLC050 Glaucoma 1k, Primary Open Angle, Juvenile-Onset 8 1.892
54
c GLC079 Glaucoma 1, Open Angle, P 8 1.892
55
c GLC052 Glaucoma 3, Primary Congenital, C 7 1.892
56
c GLC060 Glaucoma 1, Open Angle, G 7 1.892
57
c GLC078 Glaucoma 1, Open Angle, F 7 1.892
58
c GLC049 Glaucoma, Primary Open Angle, Juvenile-Onset, 2 7 1.892
59
c CYP002 Cyp1b1-Related Primary Congenital Glaucoma 7 1.892
60
c LTB001 Ltbp2-Related Primary Congenital Glaucoma 7 1.892
61
c GLC029 Glaucoma Type 1c 3 1.892
62
c GLC033 Glaucoma, Hereditary Adult Type 1a 3 1.892
63
c GLC034 Glaucoma, Hereditary Juvenile Type 1b 3 1.892
64
c GLC051 Glaucoma 1, Open Angle, M 3 1.892
65
c GLC076 Glaucoma 1, Open Angle, H 3 1.892
66
P GLC080 Glaucoma 1, Open Angle, N 3 1.892
67
SCR032 Scarring in Glaucoma Filtration Surgical Procedures 3 1.892
68
GLC027 Glaucoma Iridogoniodysgenesia 1 1.892
69
c GLC035 Glaucoma, Primary Infantile Type 3a 1 1.892
70
PSD045 Pseudoprogeria Syndrome 22 1.361
71
LWR007 Lowry Maclean Syndrome 22 1.361
72
c WLL026 Weill-Marchesani Syndrome 2, Dominant 19 1.361
73
BWN002 Bowen Syndrome 16 1.361
74
c IRD006 Iridogoniodysgenesis, Dominant Type 20 1.338
75
DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 15 1.338
76
GHS002 Ghose Sachdev Kumar Syndrome 2 1.338
77
P HYP075 Hypertension 87 0.526
78
OCL006 Ocular Hypertension 55 0.515
79
RTN023 Retinitis 54 0.387
80
c CTR002 Cataract 57 0.316
81
STR039 Sturge-Weber Syndrome 56 0.199
82
WBR001 Weber Syndrome 51 0.195
83
END072 Endotheliitis 51 0.193
84
ANR002 Aniridia 62 0.175
85
c MYP006 Myopia 41 0.175
86
c UVT001 Uveitis 66 0.163
87
EYD002 Eye Disease 59 0.161
88
NRP001 Neuropathy 62 0.156
89
P SPR013 Spiradenoma 56 0.153
90
CHR008 Choroiditis 54 0.153
91
P RTN022 Retinal Vein Occlusion 57 0.148
92
PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 42 0.145
93
PGM018 Pigment-Dispersion Syndrome 27 0.145
94
c CNT016 Central Retinal Vein Occlusion 58 0.139
95
BLN003 Blindness 53 0.139
96
DBT011 Diabetic Retinopathy 71 0.133
97
ECT005 Ectropion 43 0.124
98
SYN053 Syndromic Diarrhea 34 0.124
99
BPH001 Buphthalmos 32 0.124
100
RBS002 Rubeosis Iridis 21 0.124
101
P MLN008 Melanoma 65 0.117
102
c AXN002 Axenfeld-Rieger Syndrome 67 0.114
103
P END047 Endophthalmitis 60 0.114
104
ACN002 Acanthosis Nigricans 63 0.110
105
P ATX010 Ataxia Neuropathy Spectrum 43 0.110
106
P KRT004 Keratitis 62 0.106
107
RTN017 Retinal Detachment 56 0.106
108
THR013 Thoracic Outlet Syndrome 52 0.106
109
P SCL015 Scleritis 61 0.103
110
KRT008 Keratopathy 51 0.103
111
P RBN001 Rubinstein-Taybi Syndrome 76 0.094
112
P NRF002 Neurofibromatosis 94 0.090
113
P MGR002 Migraine 70 0.090
114
c RTN014 Retinal Artery Occlusion 58 0.090
115
c ISC002 Ischemic Optic Neuropathy 57 0.090
116
c ANT034 Anterior Uveitis 54 0.090
117
c OPT004 Optic Atrophy 50 0.090
118
SNL007 Senile Cataract 43 0.090
119
LNS001 Lens Subluxation 40 0.090
120
IRD001 Iridocyclitis 38 0.090
121
NRR001 Neuroretinitis 29 0.090
122
CNG335 Congenital Ectropion Uveae 14 0.090
123
P AGR001 Age Related Macular Degeneration 85 0.085
124
MRF001 Marfan Syndrome 85 0.085
125
CTS003 Coats Disease 62 0.085
126
P ANT058 Anterior Ischemic Optic Neuropathy 59 0.085
127
RTN025 Retinoschisis 59 0.085
128
PRL007 Proliferative Diabetic Retinopathy 54 0.085
129
MNN014 Mononeuritis 51 0.085
130
CRN026 Corneal Edema 47 0.085
131
SCT002 Scotoma 40 0.085
132
P ALZ001 Alzheimer's Disease 100 0.080
133
P RTN008 Retinitis Pigmentosa 86 0.080
134
NLP001 Nail-Patella Syndrome 70 0.080
135
c THY032 Thyroiditis 66 0.080
136
MNT147 Mental Retardation 52 0.080
137
c WLL002 Weill-Marchesani Syndrome 46 0.080
138
OCL010 Ocular Hypotension 29 0.080
139
AND002 Androgen Insensitivity Syndrome 80 0.075
140
ANK002 Ankylosing Spondylitis 77 0.075
141
c DBT009 Diabetes Mellitus 74 0.075
142
P ANG001 Angelman Syndrome 70 0.075
143
ART019 Aortic Valve Stenosis 64 0.075
144
ISC004 Ischemia 63 0.075
145
P CNJ013 Conjunctivitis 62 0.075
146
P EXP004 Exophthalmos 55 0.075
147
SYM002 Sympathetic Ophthalmia 55 0.075
148
c ACR001 Aicardi-Goutieres Syndrome 54 0.075
149
CRN024 Corneal Disease 54 0.075
150
P CNT028 Central Retinal Artery Occlusion 53 0.075
151
SCH016 Schimke Immunoosseous Dysplasia 47 0.075
152
BLL004 Bullous Keratopathy 43 0.075
153
TTR016 Tetra-Amelia Syndrome 42 0.075
154
CRB009 Cerebritis 39 0.075
155
NVS007 Nevus of Ota 25 0.075
156
CGN001 Cogan-Reese Syndrome 21 0.075
157
P LVR011 Liver Cancer 91 0.070
158
P MCP002 Mucopolysaccharidosis I 78 0.070
159
OCL005 Oculocerebrorenal Syndrome 70 0.070
160
c AMY001 Amyotrophic Lateral Sclerosis 67 0.070
161
P UVL004 Uveal Melanoma 64 0.070
162
KRN002 Kearns-Sayre Syndrome 63 0.070
163
RFR003 Refractive Error 48 0.070
164
P ATN005 Autonomic Dysfunction 47 0.070
165
CRN025 Corneal Dystrophy 46 0.070
166
CTS011 Cutis Marmorata Telangiectatica Congenita 45 0.070
167
P MYP018 Myopia 6 36 0.070
168
OPT006 Optic Nerve Disease 36 0.070
169
TFT003 Tufting Enteropathy 28 0.070
170
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 28 0.070
171
INT065 Interstitial Keratitis 26 0.070
172
HYP084 Hypopyon 25 0.070
173
GLC001 Glaucomatocyclitic Crisis 18 0.070
174
P ATX002 Ataxia Telangiectasia 87 0.064
175
P PRM021 Primary Pulmonary Hypertension 77 0.064
176
P ART022 Arthritis 75 0.064
177
c PLM037 Pulmonary Hypertension 73 0.064
178
DMN002 Dementia 67 0.064
179
ADN018 Adenoma 66 0.064
180
c AMY077 Amyotrophic Lateral Sclerosis Type 18 60 0.064
181
MYC002 Mycobacterium Avium Complex Disease 59 0.064
182
P AMY074 Amyotrophic Lateral Sclerosis Type 14 56 0.064
183
ART001 Arterial Tortuosity Syndrome 55 0.064
184
CYS006 Cystoid Macular Edema 54 0.064
185
AND003 Andersen-Tawil Syndrome 54 0.064
186
RTN003 Retinal Ischemia 49 0.064
187
CNJ007 Conjunctivochalasis 47 0.064
188
P OPT015 Optic Atrophy Type 1 44 0.064
189
NRN002 Neuronitis 44 0.064
190
IRT001 Iritis 43 0.064
191
ANS004 Anisometropia 28 0.064
192
IRD003 Iridocorneal Endothelial Syndrome 24 0.064
193
c BNG076 Benign Exophthalmos Syndrome 22 0.064
194
AND005 Androgen Insensitivity Syndrome, Mild 21 0.064
195
AQS001 Aqueous Misdirection 13 0.064
196
P LKM002 Leukemia 77 0.057
197
P CHR071 Charcot-Marie-Tooth Disease 72 0.057
198
P RTH001 Rothmund-Thomson Syndrome 70 0.057
199
c PNC044 Pancreatitis 69 0.057
200
P HYD006 Hydrocephalus 68 0.057
201
CLB001 Coloboma 68 0.057
202
ART111 Artery Disease 62 0.057
203
P HMC002 Homocystinuria 60 0.057
204
P EXD001 Exudative Vitreoretinopathy 58 0.057
205
ADR008 Adrenal Adenoma 55 0.057
206
P SHR029 Short Syndrome 55 0.057
207
PPL021 Papilledema 54 0.057
208
HYP077 Hypertrichosis 50 0.057
209
RTN018 Retinal Disease 49 0.057
210
P AXN003 Axenfeld-Rieger Syndrome Type 1 49 0.057
211
CRT016 Carotid Artery Disease 47 0.057
212
CRT015 Carotid Artery Occlusion 45 0.057
213
P RTN016 Retinal Degeneration 44 0.057
214
AST006 Astigmatism 42 0.057
215
GPS001 Gapo Syndrome 42 0.057
216
OPT007 Optic Nerve Glioma 41 0.057
217
c TYP002 Type Vi Ehlers-Danlos Syndrome 39 0.057
218
ISL078 Isolated Ectopia Lentis 38 0.057
219
HYP362 Hyperopia 28 0.057
220
CHR158 Charles Bonnet Syndrome 26 0.057
221
c PST008 Posterior Scleritis 22 0.057
222
ESS005 Essential Iris Atrophy 17 0.057
223
ORB003 Orbital Tenonitis 13 0.057
224
P RHM011 Rheumatoid Arthritis 94 0.049
225
P PNM007 Pneumonia 78 0.049
226
GLN003 Glanzmann's Thrombasthenia 74 0.049
227
GLL008 Gilles De La Tourette Syndrome 71 0.049
228
P HMN010 Hemangioma 71 0.049
229
VSC007 Vascular Disease 70 0.049
230
NVD001 Nevoid Basal Cell Carcinoma Syndrome 69 0.049
231
P SHR002 Short Stature 68 0.049
232
VSC011 Vasculitis 66 0.049
233
c JVN010 Juvenile Rheumatoid Arthritis 66 0.049
234
c HPT021 Hepatitis 64 0.049
235
P HST010 Histiocytosis 64 0.049
236
CYS005 Cysticercosis 63 0.049
237
CDL003 Caudal Regression Syndrome 61 0.049
238
VGT001 Vogt-Koyanagi-Harada Disease 61 0.049
239
WLF002 Wolf-Hirschhorn Syndrome 61 0.049
240
c SLP006 Sleep Apnea 59 0.049
241
VSC002 Vascular Dementia 59 0.049
242
CLL003 Cellulitis 59 0.049
243
HRP004 Herpes Zoster 58 0.049
244
c BRC006 Brachydactyly 57 0.049
245
P CMP008 Compartment Syndrome 56 0.049
246
c OCL002 Oculocutaneous Albinism 56 0.049
247
TTH006 Tooth Disease 56 0.049
248
P OCL013 Oculodentodigital Dysplasia 56 0.049
249
P KRT007 Keratoconus 53 0.049
250
ALB002 Albinism 49 0.049
251
AMB002 Amblyopia 47 0.049
252
OCL014 Oculofaciocardiodental Syndrome 44 0.049
253
BRN026 Branch Retinal Artery Occlusion 44 0.049
254
MDL002 Medulloepithelioma 43 0.049
255
XLN014 X-Linked Juvenile Retinoschisis 41 0.049
256
ENC011 Encephalomyopathy 39 0.049
257
c DMN027 Dominant Optic Atrophy 38 0.049
258
MTC004 Mitochondrial Encephalomyopathy 36 0.049
259
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 34 0.049
260
BRD005 Borderline Leprosy 34 0.049
261
ENT005 Entropion 33 0.049
262
ORB006 Orbital Cellulitis 30 0.049
263
PHC006 Phacomatosis Pigmentovascularis 30 0.049
264
IRS007 Iris Hypoplasia 29 0.049
265
CYC001 Cycloplegia 27 0.049
266
c CHR247 Chromosome 4p Deletion 25 0.049
267
HRP011 Herpes Zoster Ophthalmicus 25 0.049
268
FCH002 Fuchs' Heterochromic Uveitis 23 0.049
269
ISC009 Ischemic Retinopathy 23 0.049
270
DGN002 Degenerative Myopia 22 0.049
271
ISC001 Ischemic Neuropathy 19 0.049
272
ECT033 Ectopia Lentis Et Pupillae 18 0.049
273
CYT018 Cytochrome P450 2d6 Variant 16 0.049
274
HYD007 Hydrophthalmos 16 0.049
275
c FML056 Familial Deafness 14 0.049
276
PSN006 Posner-Schlossman Syndrome 14 0.049
277
P MLT020 Multiple Sclerosis 85 0.040
278
SMT004 Smith-Lemli-Opitz Syndrome 84 0.040
279
CDS001 Cadasil 84 0.040
280
VNH001 Von Hippel-Lindau Disease 81 0.040
281
P CSH001 Cushing's Syndrome 75 0.040
282
P SRC013 Sarcoidosis 75 0.040
283
ART016 Aortic Aneurysm 71 0.040
284
P WLF004 Wolfram Syndrome 70 0.040
285
P MTB001 Metabolic Syndrome X 70 0.040
286
MYC006 Mycosis Fungoides 69 0.040
287
ATH003 Atherosclerosis 69 0.040
288
P HRP006 Herpes Simplex 68 0.040
289
ACT049 Acute Disseminated Encephalomyelitis 67 0.040
290
P FRD001 Friedreich Ataxia 67 0.040
291
ANT006 Antiphospholipid Syndrome 66 0.040
292
DRM006 Dermatitis 66 0.040
293
P WLM002 Wilms Tumor 66 0.040
294
CRB037 Cerebral Palsy 65 0.040
295
PSR002 Psoriasis 63 0.040
296
P ACT101 Acute Lymphoblastic Leukemia 63 0.040
297
DWN001 Down Syndrome 62 0.040
298
c ESS003 Essential Thrombocythemia 61 0.040
299
P PRT008 Proteus Syndrome 61 0.040
300
c DST002 Distal Arthrogryposis 61 0.040
301
EDW001 Edwards Syndrome 61 0.040
302
WGR001 Wagr Syndrome 60 0.040
303
P MLS001 Melas Syndrome 60 0.040
304
P ADN016 Adenocarcinoma 59 0.040
305
P HLL001 Hallermann-Streiff Syndrome 59 0.040
306
CRY004 Cryoglobulinemia 59 0.040
307
OBS061 Obstructive Sleep Apnea 58 0.040
308
P CYS010 Cystinosis 58 0.040
309
P HMR012 Hemorrhagic Fever 58 0.040
310
TNS005 Tonsillitis 57 0.040
311
KRT006 Keratoconjunctivitis 57 0.040
312
LNG024 Langerhans-Cell Histiocytosis 57 0.040
313
c LYM026 Lymphoblastic Leukemia 57 0.040
314
RNL007 Renal Tubular Acidosis 57 0.040
315
STV001 Stevens-Johnson Syndrome 56 0.040
316
SPN008 Spondyloepiphyseal Dysplasia Congenita 56 0.040
317
PSD002 Pseudotumor Cerebri 55 0.040
318
c XRD012 Xeroderma Pigmentosum, Group D 55 0.040
319
MCR013 Microphthalmia 54 0.040
320
WLL001 Williams-Beuren Syndrome 54 0.040
321
PTS001 Patau Syndrome 53 0.040
322
EMP001 Empty Sella Syndrome 52 0.040
323
P CLF002 Cleft Palate 52 0.040
324
RHY001 Rhyns Syndrome 51 0.040
325
APP001 Apparent Mineralocorticoid Excess Syndrome 51 0.040
326
RTN001 Retinal Vasculitis 51 0.040
327
MLK003 Melkersson-Rosenthal Syndrome 51 0.040
328
P MTC069 Mitochondrial Disorders 50 0.040
329
NNR007 Non-Arteritic Anterior Ischemic Optic Neuropathy 50 0.040
330
CRT013 Carotid Stenosis 49 0.040
331
NRT004 Neuritis 49 0.040
332
P BLP003 Blepharospasm 48 0.040
333
VRN004 Vernal Keratoconjunctivitis 47 0.040
334
CRS005 Crest Syndrome 47 0.040
335
RTN021 Retinal Vascular Occlusion 47 0.040
336
P ART084 Arteriovenous Fistula 47 0.040
337
ANR040 Aneurysm 46 0.040
338
KRT012 Keratoderma 46 0.040
339
LMB050 Limbal Stem Cell Deficiency 45 0.040
340
ART110 Arteritic Anterior Ischemic Optic Neuropathy 45 0.040
341
c LTT001 Lattice Corneal Dystrophy 45 0.040
342
P IRD010 Iridogoniodysgenesis Syndrome 43 0.040
343
VTR003 Vitreous Detachment 42 0.040
344
RTN020 Retinal Vascular Disease 41 0.040
345
END060 Endolymphatic Hydrops 41 0.040
346
MCL007 Macular Dystrophy 40 0.040
347
ART012 Aortitis 39 0.040
348
c TYP003 Type I Ehlers-Danlos Syndrome 39 0.040
349
OCH001 Ochronosis 38 0.040
350
SPS057 Spasticity 38 0.040
351
EMN001 Emanuel Syndrome 37 0.040
352
NRT005 North Carolina Macular Dystrophy 37 0.040
353
IMM088 Immunodeficiency 36 34 0.040
354
ABL001 Ablepharon Macrostomia Syndrome 34 0.040
355
NTR005 Nutritional Deficiency Disease 33 0.040
356
P WLL027 Weill-Marchesani Syndrome 1, Recessive 33 0.040
357
MTH044 Mthfr Gene Mutation 33 0.040
358
FCL003 Facial Hemiatrophy 32 0.040
359
PRS062 Persistent Hyperplastic Primary Vitreous 32 0.040
360
P ANP018 Anophthalmia Plus Syndrome 31 0.040
361
FRN017 Frank Ter Haar Syndrome 30 0.040
362
c PST061 Posterior Polymorphous Corneal Dystrophy 30 0.040
363
P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 27 0.040
364
EYL005 Eyelid Disease 27 0.040
365
CNG049 Congenital Stromal Corneal Dystrophy 27 0.040
366
ATH001 Athabaskan Brainstem Dysgenesis Syndrome 26 0.040
367
VRN001 Vernal Conjunctivitis 25 0.040
368
BND001 Band Keratopathy 24 0.040
369
PNP001 Panophthalmitis 24 0.040
370
ANG022 Angel Shaped Phalangoepiphyseal Dysplasia 23 0.040
371
P NNP011 Nanophthalmos 2 23 0.040
372
c AXN005 Axenfeld-Rieger Syndrome Type 3 22 0.040
373
c ANT023 Anterior Scleritis 22 0.040
374
ARC001 Arcus Senilis 21 0.040
375
EPT021 Epithelial Recurrent Erosion Dystrophy 21 0.040
376
SCL008 Scleromalacia Perforans 21 0.040
377
c AXN004 Axenfeld-Rieger Syndrome Type 2 20 0.040
378
AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 18 0.040
379
PRK066 Parkinsonism with Spasticity, X-Linked 18 0.040
380
RTN005 Retinal Lattice Degeneration 11 0.040
381
P PRK002 Parkinson's Disease 93 0.028
382
KPS001 Kaposi's Sarcoma 87 0.028
383
SCK003 Sickle Cell Anemia 82 0.028
384
P ALG002 Alagille Syndrome 81 0.028
385
c NNN003 Noonan Syndrome 80 0.028
386
P WSK001 Wiskott-Aldrich Syndrome 79 0.028
387
WLS001 Wilson Disease 79 0.028
388
P LNG032 Lung Cancer 79 0.028
389
c BTT002 Beta Thalassemia 78 0.028
390
PTZ001 Peutz-Jeghers Syndrome 78 0.028
391
CRH001 Crohn's Disease 76 0.028
392
MCC001 Mccune Albright Syndrome 76 0.028
393
TTR001 Tetralogy of Fallot 75 0.028
394
NRR002 Norrie Disease 74 0.028
395
BLS001 Blau Syndrome 73 0.028
396
P BRD002 Bardet-Biedl Syndrome 73 0.028
397
P PRD006 Prader-Willi Syndrome 72 0.028
398
RLP001 Relapsing Polychondritis 72 0.028
399
WRN001 Werner Syndrome 72 0.028
400
ACQ007 Acquired Immunodeficiency Syndrome 71 0.028
401
P PLL001 Pallister-Hall Syndrome 71 0.028
402
P STR022 Stargardt Disease 71 0.028
403
P NRB001 Neuroblastoma 70 0.028
404
c CRN037 Craniosynostosis 70 0.028
405
c ACT074 Acute Lymphocytic Leukemia 70 0.028
406
FBR011 Fibrodysplasia Ossificans Progressiva 70 0.028
407
P RSP003 Respiratory Failure 70 0.028
408
CRB039 Cerebrovascular Disease 69 0.028
409
c MCP005 Mucopolysaccharidosis Vi 69 0.028
410
c HYP086 Hypothyroidism 69 0.028
411
P CNG401 Congenital Heart Disease 69 0.028
412
KLP002 Klippel-Trenaunay Syndrome 69 0.028
413
P MLG068 Malignant Glioma 69 0.028
414
P CMR001 Camurati-Engelmann Disease 68 0.028
415
PRP027 Peripheral Vascular Disease 68 0.028
416
MCK007 Muckle-Wells Syndrome 67 0.028
417
P FNC001 Fanconi's Anemia 67 0.028
418
OLL001 Ollier Disease 66 0.028
419
ALS001 Alstrom Syndrome 66 0.028
420
P HRD057 Hereditary Pancreatitis 66 0.028
421
c TXP001 Toxoplasmosis 66 0.028
422
RHM001 Rheumatic Fever 66 0.028
423
c ENC004 Encephalitis 66 0.028
424
c HMP007 Hemophilia 65 0.028
425
FCT002 Factor Xi Deficiency 65 0.028
426
P VRL007 Viral Encephalitis 65 0.028
427
CHR103 Charge Syndrome 65 0.028
428
P VTL001 Vitelliform Macular Dystrophy 65 0.028
429
ALK013 Alkaptonuria 65 0.028
430
c MCP010 Mucopolysaccharidosis 64 0.028
431
c HLP001 Holoprosencephaly 64 0.028
432
c CNG006 Congenital Hypothyroidism 64 0.028
433
P ART023 Arthropathy 64 0.028
434
ART005 Arteriovenous Malformation 63 0.028
435
CRY002 Cryptorchidism 63 0.028
436
LRN003 Learning Disability 63 0.028
437
RBR001 Roberts Syndrome 62 0.028
438
LDD001 Ladd Syndrome 62 0.028
439
DSS009 Disseminated Intravascular Coagulation 62 0.028
440
HYD012 Hydrops Fetalis 62 0.028
441
c OST110 Osteogenesis Imperfecta, Type Xv 62 0.028
442
NRM002 Normal Pressure Hydrocephalus 62 0.028
443
THR004 Thrombocytosis 61 0.028
444
HMR004 Hemorrhagic Fever with Renal Syndrome 61 0.028
445
RNL015 Renal Hypertension 61 0.028
446
c MLT074 Multiple Endocrine Neoplasia 61 0.028
447
c ANG015 Angioedema 61 0.028
448
WLL003 Williams Syndrome 61 0.028
449
P PLY019 Polyneuropathy 61 0.028
450
P FTL006 Fetal Alcohol Spectrum Disorder 60 0.028
451
P MMP001 Mumps 60 0.028
452
MLT001 Multiple Chemical Sensitivity 60 0.028
453
c NRN021 Neuronal Ceroid Lipofuscinosis 59 0.028
454
HWK001 Hawkinsinuria 59 0.028
455
CHN010 Chondroma 59 0.028
456
P NRM001 Neuromyelitis Optica 59 0.028
457
P PTT014 Pitt-Hopkins Syndrome 59 0.028
458
P BTT005 Batten Disease 59 0.028
459
c ATX004 Ataxia 59 0.028
460
P THR090 Thrombocythemia 1 58 0.028
461
c USH001 Usher Syndrome 58 0.028
462
CCT002 Cicatricial Pemphigoid 58 0.028
463
c CNG124 Congenital Rubella 58 0.028
464
INT054 Intraocular Lymphoma 58 0.028
465
P SNS014 Sinusitis 58 0.028
466
P SDR002 Siderosis 58 0.028
467
LRY018 Laryngeal Squamous Cell Carcinoma 57 0.028
468
ALP008 Alopecia 57 0.028
469
c WRD001 Waardenburg's Syndrome 57 0.028
470
P RTN012 Retinopathy of Prematurity 57 0.028
471
CYT005 Cytomegalovirus Retinitis 57 0.028
472
P PLY006 Polydactyly 57 0.028
473
P OP3001 Opa3-Related 3-Methylglutaconic Aciduria 56 0.028
474
ART017 Aortic Disease 56 0.028
475
EPD037 Epidermal Nevus 56 0.028
476
CRD005 Cardia Cancer 56 0.028
477
P INF032 Infertility 55 0.028
478
P CRN028 Corneal Ulcer 55 0.028
479
P DWR001 Dwarfism 55 0.028
480
NPH004 Nephropathia Epidemica 55 0.028
481
IMP005 Impotence 55 0.028
482
CNT047 Contact Dermatitis 55 0.028
483
ORL004 Oral Submucous Fibrosis 55 0.028
484
P STC005 Stickler Syndrome Type 1 55 0.028
485
PTT037 Pituitary Tumors 54 0.028
486
P VNT002 Ventricular Septal Defect 54 0.028
487
TLR001 Tularemia 54 0.028
488
NPH051 Nephritis 54 0.028
489
ORL011 Oral Cancer 54 0.028
490
LYM022 Lymphangioma 54 0.028
491
c LTR001 Lateral Sclerosis 54 0.028
492
ALL010 Allergic Contact Dermatitis 54 0.028
493
c DFF019 Diffuse Gastric Cancer 54 0.028
494
P JVN003 Juvenile Xanthogranuloma 53 0.028
495
FCH001 Fuchs' Endothelial Dystrophy 53 0.028
496
c NNT009 Neonatal Diabetes Mellitus 53 0.028
497
INT075 Intracranial Hypertension 53 0.028
498
STS002 Situs Inversus 53 0.028
499
P EHL009 Ehlers-Danlos Syndrome Type Iv 53 0.028
500
HMP005 Hemiplegia 53 0.028
501
HYP037 Hyperhomocysteinemia 53 0.028
502
RSD004 Rosai-Dorfman Disease 53 0.028
503
ONC002 Onchocerciasis 52 0.028
504
P STR020 Strabismus 52 0.028
505
MCL003 Macular Holes 52 0.028
506
P PND001 Pain Disorder 52 0.028
507
P ALC004 Alcohol Abuse 52 0.028
508
DRG002 Drug-Induced Hepatitis 51 0.028
509
P CST002 Castleman's Disease 51 0.028
510
c STC001 Stickler Syndrome 51 0.028
511
c TCL004 T-Cell Leukemia 51 0.028
512
CCN002 Cocaine Abuse 51 0.028
513
ASB001 Asbestosis 51 0.028
514
OCL020 Ocular Cicatricial Pemphigoid 51 0.028
515
c STS001 Sotos Syndrome 50 0.028
516
c SCK004 Seckel Syndrome 50 0.028
517
PYL006 Pyloric Stenosis 50 0.028
518
KNS001 Kniest Dysplasia 50 0.028
519
OPT009 Optic Neuritis 50 0.028
520
BRN106 Burns 50 0.028
521
HYP009 Hypertrophic Pyloric Stenosis 50 0.028
522
CTS002 Cat-Scratch Disease 50 0.028
523
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 49 0.028
524
c TCL005 T-Cell Prolymphocytic Leukemia 49 0.028
525
ECT006 Ectodermal Dysplasia 49 0.028
526
c INT060 Intestinal Atresia 49 0.028
527
WGN003 Wagner Syndrome 49 0.028
528
HYP017 Hypophosphatemia 49 0.028
529
HDN002 Head Injury 49 0.028
530
DRY001 Dry Eye Syndrome 48 0.028
531
PNV001 Panuveitis 48 0.028
532
MNN021 Meningococcemia 48 0.028
533
c GGN002 Gigantism 48 0.028
534
P CRN139 Cornelia De Lange Syndrome 1 48 0.028
535
CHY006 Chylous Ascites 48 0.028
536
PRP016 Paraplegia 48 0.028
537
DRG011 Drug Addiction 47 0.028
538
MRS002 Marshall Syndrome 47 0.028
539
MTG002 Mutagen Sensitivity 47 0.028
540
FND002 Fundus Dystrophy 47 0.028
541
LCH009 Lichen Sclerosus 47 0.028
542
c ADL017 Adult T-Cell Leukemia 46 0.028
543
LKP003 Leukoplakia 46 0.028
544
P MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 46 0.028
545
PRT093 Proteus Syndrome, Somatic 45 0.028
546
P NRL007 Neurologic Diseases 45 0.028
547
FTL007 Fetal Hydantoin Syndrome 45 0.028
548
CHN015 Chondrodysplasia 44 0.028
549
OPT037 Optic Nerve Hypoplasia 44 0.028
550
CYT008 Cytomegalovirus Infection 44 0.028
551
PRL017 Prolymphocytic Leukemia 44 0.028
552
ENC014 Enchondroma 44 0.028
553
P D2H001 D-2-Hydroxyglutaric Aciduria 43 0.028
554
P ADM005 Adams-Oliver Syndrome 1 43 0.028
555
CNG024 Congenital Nystagmus 43 0.028
556
OTP005 Oto-Palato-Digital Syndrome Type 2 43 0.028
557
P HRN001 Horner's Syndrome 43 0.028
558
DBT007 Diabetic Cataract 43 0.028
559
P SCK025 Seckel Syndrome Type 5 43 0.028
560
ERY021 Erythrokeratodermia Variabilis Et Progressiva 42 0.028
561
c GLP001 Geleophysic Dysplasia 42 0.028
562
CNT060 Central Serous Chorioretinopathy 42 0.028
563
INT016 Intraductal Papilloma 42 0.028
564
OCL025 Ocular Toxoplasmosis 41 0.028
565
GNT006 Giant Papillary Conjunctivitis 41 0.028
566
HYP265 Hypotonia 41 0.028
567
AMR003 Amaurosis Fugax 41 0.028
568
P CHR269 Chromosome 9p Deletion 41 0.028
569
ALB014 Alobar Holoprosencephaly 40 0.028
570
P MSC109 Mosaic Variegated Aneuploidy Syndrome 1 39 0.028
571
SPN012 Spindle Cell Hemangioma 39 0.028
572
BST001 Bestrophinopathy 39 0.028
573
SPC005 Speech Disorder 39 0.028
574
P DSB001 Desbuquois Syndrome 39 0.028
575
NNC002 Nance-Horan Syndrome 39 0.028
576
HRD025 Hereditary Neuropathy with Liability to Pressure Palsies 39 0.028
577
ANG037 Angiomatosis 38 0.028
578
RTN138 Retinal Vasculopathy with Cerebral Leukodystrophy 38 0.028
579
PPL019 Papillary Conjunctivitis 38 0.028
580
MLL002 Miller Fisher Syndrome 38 0.028
581
P ANT026 Anterior Segment Mesenchymal Dysgenesis 38 0.028
582
CHN003 Chondroblastic Osteosarcoma 38 0.028
583
OCL022 Ocular Melanoma 38 0.028
584
BNZ002 Benzene Toxicity 38 0.028
585
OTP004 Oto-Palato-Digital Syndrome Type 1 38 0.028
586
HNS001 Hansen's Disease 37 0.028
587
TBS001 Tabes Dorsalis 36 0.028
588
CNG069 Congenital Cytomegalovirus 36 0.028
589
STF002 Stiff Skin Syndrome 36 0.028
590
c SRC025 Sarcoidosis 1 36 0.028
591
SRT001 Sertoli Cell-Only Syndrome 36 0.028
592
PHC004 Phace Syndrome 36 0.028
593
c MCP012 Mucopolysaccharidosis Ih 35 0.028
594
HYP264 Hypertonia 35 0.028
595
ADS002 Adie Syndrome 35 0.028
596
c LRS002 Larsen-Like Syndrome 35 0.028
597
PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 35 0.028
598
P PRK003 Parkes Weber Syndrome 35 0.028
599
P DYS005 Dyslexia 35 0.028
600
CNG005 Congenital Aphakia 34 0.028
601
ACN019 Acanthamoeba Keratitis 34 0.028
602
OCC002 Occult Macular Dystrophy 34 0.028
603
ORB014 Orbital Lymphangioma 34 0.028
604
INT080 Intraocular Melanoma 34 0.028
605
c 2HY001 2-Hydroxyglutaric Aciduria 34 0.028
606
CTR004 Cataract and Cardiomyopathy 33 0.028
607
c MCR043 Microcephalic Osteodysplastic Primordial Dwarfism Type 1 33 0.028
608
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 33 0.028
609
CNG122 Congenital Pulmonary Lymphangiectasia 32 0.028
610
P INF069 Infantile Neuroaxonal Dystrophy 1 31 0.028
611
P MTC064 Mitochondrial Myopathy and Sideroblastic Anemia 1 31 0.028
612
P LNZ001 Lenz Microphthalmia Syndrome 31 0.028
613
P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 31 0.028
614
c ADM004 Adams Oliver Syndrome 30 0.028
615
INT003 Intracranial Hypotension 30 0.028
616
P CMM008 Communicating Hydrocephalus 30 0.028
617
c FRN011 Frontal Sinusitis 30 0.028
618
APL022 Aplasia Cutis Congenita, Reticulolinear, with Mmicrocephaly, Facial Dysmorphism and Other Congenital Anomalies 30 0.028
619
FSC006 Fascioscapulohumeral Muscular Dystrophy 2, Digenic 29 0.028
620
c CHR149 Charcot-Marie-Tooth Disease Type 4b2 29 0.028
621
c RNG022 Ring Chromosome 6 29 0.028
622
HNM002 Hinman Syndrome 28 0.028
623
MSC077 Muscle Eye Brain Disease 28 0.028
624
DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 28 0.028
625
NNS006 Non-Suppurative Otitis Media 28 0.028
626
FNL001 Fine-Lubinsky Syndrome 27 0.028
627
NRT011 Neurotrophic Keratopathy 27 0.028
628
MTR007 Motor Peripheral Neuropathy 27 0.028
629
KRN001 Korean Hemorrhagic Fever 27 0.028
630
LYS011 Loeys-Dietz Syndrome Type 3 27 0.028
631
LRY026 Laryngeal Cleft 27 0.028
632
c CTR120 Cataract, Congenital 26 0.028
633
SNS003 Sensory Peripheral Neuropathy 26 0.028
634
HYP179 Hypertrichosis Congenital Generalized X-Linked 26 0.028
635
WYB001 Wyburn Mason's Syndrome 26 0.028
636
CPL011 Capillary Malformations, Congenital, 1, Somatic, Mosaic 26 0.028
637
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 26 0.028
638
EXC003 Excessive Tearing 26 0.028
639
MMS001 Momo Syndrome 25 0.028
640
c CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 25 0.028
641
PL2001 Pla2g6-Associated Neurodegeneration 25 0.028
642
ANT030 Antecubital Pterygium 25 0.028
643
INT033 Intracranial Chondrosarcoma 25 0.028
644
BST007 Best Vitelliform Macular Dystrophy 24 0.028
645
CHN008 Chandler Syndrome 24 0.028
646
MCR067 Microcoria, Congenital 22 0.028
647
MCR163 Microphthalmia with Linear Skin Defects Syndrome 22 0.028
648
MRG001 Morgagni Cataract 21 0.028
649
c ACT067 Acute Conjunctivitis 21 0.028
650
CRN230 Corneal Opacification and Other Ocular Anomalies 21 0.028
651
CLR033 Color Vision Deficiency 20 0.028
652
ARM005 Armfield Syndrome 20 0.028
653
c DST044 Distal Trisomy 14q 20 0.028
654
c CHR225 Chromosome 1q21.1 Duplication Syndrome 20 0.028
655
CLB009 Coloboma of Iris 20 0.028
656
PLS001 Pulsating Exophthalmos 19 0.028
657
ACT038 Acute Retrobulbar Neuritis 19 0.028
658
MTR001 Mature Cataract 19 0.028
659
HMC030 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 19 0.028
660
c PRM016 Primary Optic Atrophy 19 0.028
661
ANR016 Aniridia Renal Agenesis Psychomotor Retardation 19 0.028
662
OCL055 Oculo-Palato-Cerebral Syndrome 18 0.028
663
HTR005 Heterochromia Iridis 18 0.028
664
c DST072 Distal Monosomy 6p 17 0.028
665
ANR012 Aniridia Absent Patella 17 0.028
666
NGB001 Naguib-Richieri-Costa Syndrome 16 0.028
667
PLL007 Pillay Syndrome 16 0.028
668
CRN004 Corneal Abscess 16 0.028
669
P INT105 Intellectual Disability Multi-Gene Panels 16 0.028
670
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 16 0.028
671
BLP014 Blepharoptosis Myopia Ectopia Lentis 15 0.028
672
MGL026 Megalocornea 1, X-Linked 14 0.028
673
c CHR223 Chromosome 1q Deletion 14 0.028
674
CNG395 Congenital Retinal Arteriovenous Communication 14 0.028
675
ORB016 Orbital Varix 14 0.028
676
c CHR240 Chromosome 2q Duplication 13 0.028
677
PRF002 Perforated Corneal Ulcer 12 0.028
678
17Q005 17q12 Microduplication Syndrome 12 0.028
679
OCL067 Ocular Cystinosis 11 0.028
680
c MCR211 Microphthalmia, Isolated 6 11 0.028
681
SHR052 Short Stature - Deafness - Neutrophil Dysfunction - Dysmorphism 11 0.028
682
PHK008 Phakomatosis Cesioflammea 9 0.028
683
VNH004 Von Hippel Anomaly 8 0.028