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Searching MalaCards for entries containing "glaucomae"

1174 hits were found for 'glaucomae'

# F MCID Name MIFTS Score
1 P OPN001 Open-angle Glaucoma 76.6 5.778
2 P GLC007 Glaucoma 78.4 4.873
3 PRM024 Primary Angle-closure Glaucoma 44.4 4.725
4 NVS001 Neovascular Glaucoma 40.5 4.087
5 P PRM010 Primary Open Angle Glaucoma 64.4 3.934
6 c PRM049 Primary Open Angle Glaucoma Juvenile Onset 1 9.8 3.725
7 INT012 Interval Angle-closure Glaucoma 27.8 3.667
8 P GLC026 Glaucoma 3 Primary Infantile B 17.6 3.645
9 CHR054 Chronic Closed-angle Glaucoma 5.9 3.609
10 LWT001 Low Tension Glaucoma 24.6 3.460
11 c PRM084 Primary Open Angle Glaucoma (adult Onset) 18.1 3.402
12 JVN008 Juvenile Glaucoma 28.2 3.391
13 STR019 Steroid-induced Glaucoma 26.0 3.391
14 TRM002 Traumatic Glaucoma 17.9 3.375
15 ACT028 Acute Closed-angle Glaucoma 10.2 3.141
16 ERL012 Early-onset Glaucoma 30.0 3.132
17 STR016 Steroid-induced Glaucoma - Borderline 5.6 3.126
18 RSD001 Residual Stage Angle-closure Glaucoma 4.6 2.853
19 RSD002 Residual Stage of Open Angle Glaucoma 5.0 2.853
20 GLC030 Glaucoma, Congenital 27.5 2.822
21 P PRM032 Primary Congenital Glaucoma 19.2 2.817
22 ANG044 Angle-closure Glaucoma 40.4 2.768
23 IRS004 Iris Hypoplasia and Glaucoma 22.0 2.600
24 CHR150 Charcot-marie-tooth Disease Type 4b2 with Early-onset Glaucoma 3.6 2.593
25 FRD005 Friedreich Ataxia Congenital Glaucoma 1.0 2.571
26 HYP023 Hypersecretion Glaucoma 3.6 2.552
27 PHC001 Phacolytic Glaucoma 3.6 2.552
28 GLC032 Glaucoma, Hereditary 5.6 2.491
29 c GLC049 Glaucoma, Primary Open Angle, Juvenile-onset, 2 6.6 2.484
30 P GLC058 Glaucoma, Primary Open Angle, Juvenile-onset 18.8 2.484
31 SPS048 Spastic Paresis Glaucoma Mental Retardation 13.6 2.484
32 GLC027 Glaucoma Iridogoniodysgenesia 6.6 2.481
33 GLC028 Glaucoma Sleep Apnea 5.6 2.481
34 c GLC029 Glaucoma Type 1c 5.6 2.481
35 GLC031 Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome 7.6 2.481
36 GLC033 Glaucoma, Hereditary Adult Type 1a 5.6 2.481
37 GLC034 Glaucoma, Hereditary Juvenile Type 1b 5.6 2.481
38 c GLC035 Glaucoma, Primary Infantile Type 3a 5.6 2.481
39 GLC044 Glaucoma 1b, Primary Open Angle, Adult Onset 15.5 2.481
40 c GLC045 Glaucoma 1c, Primary Open Angle 6.6 2.481
41 c GLC046 Glaucoma 1d, Primary Open Angle 5.6 2.481
42 c GLC047 Glaucoma 1f 6.6 2.481
43 c GLC048 Glaucoma 1, Open Angle, I 6.6 2.481
44 c GLC050 Glaucoma 1k, Primary Open Angle, Juvenile-onset 5.6 2.481
45 GLC051 Glaucoma 1, Open Angle, M 6.6 2.481
46 c GLC052 Glaucoma 3, Primary Congenital, C 6.6 2.481
47 GLC054 Glaucoma 3, Primary Congenital, D 17.8 2.481
48 c GLC056 Glaucoma 3a, Primary Congenital 15.6 2.481
49 GLC057 Glaucoma, Early-onset, Digenic 19.8 2.481
50 c GLC059 Glaucoma 1, Open Angle, 1o 16.5 2.481
51 c GLC060 Glaucoma 1, Open Angle, G 9.6 2.481
52 P GLC062 Glaucoma 1, Open Angle, E 17.8 2.481
53 c GLC063 Glaucoma 1a, Primary Open Angle, Juvenile-onset 15.6 2.481
54 GLC064 Glaucoma 1a, Primary Open Angle, Recessive 6.6 2.481
55 RSD003 Residual Stage Corticosteroid-induced Glaucoma 16.3 2.481
56 EXF001 Exfoliation Syndrome 48.1 2.352
57 PRM095 Primary Open Anle Glaucoma 11.7 2.313
58 CYP002 Cyp1b1-related Primary Congenital Glaucoma 6.2 2.269
59 LTB001 Ltbp2-related Primary Congenital Glaucoma 6.2 2.269
60 MGL005 Megalocornea - Spherophakia - Secondary Glaucoma 8.2 2.248
61 RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 8.7 2.248
62 BRD008 Borderline Glaucoma 8.6 2.231
63 MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 1.0 2.231
64 TTR009 Tetralogy of Fallot and Glaucoma 1.0 2.231
65 ANT015 Anatomical Narrow Angle Borderline Glaucoma 2.0 2.210
66 PHC002 Phacogenic Glaucoma 2.6 2.210
67 CTR027 Cataract-glaucoma 34.0 1.838
68 NLP002 Nail-patella Syndrome with Open-angle Glaucoma 6.3 1.829
69 ACK001 Ackerman Syndrome 3.0 1.818
70 DYS050 Dyssegmental Dysplasia and Glaucoma 1.0 1.818
71 GLC005 Glaucomatous Atrophy of Optic Disc 17.8 1.574
72 PGM005 Pigment Dispersion Syndrome 18.3 1.399
73 BWN002 Bowen Syndrome 7.9 1.276
74 GHS002 Ghose Sachdev Kumar Syndrome 1.0 1.276
75 IRD006 Iridogoniodysgenesis, Dominant Type 9.4 1.276
76 LWR007 Lowry Maclean Syndrome 2.0 1.276
77 PSD045 Pseudoprogeria Syndrome 2.0 1.276
78 ERL004 Early Yaws 22.7 0.106
79 CTR002 Cataract 73.9 0.082
80 RTN023 Retinitis 82.5 0.079
81 P AXN002 Axenfeld-rieger Syndrome 47.1 0.076
82 c CHR148 Charcot-marie-tooth Disease Type 4b1 8.8 0.074
83 TRC078 Trichohepatoenteric Syndrome 2 15.5 0.074
84 ATX010 Ataxia Neuropathy Spectrum 18.9 0.071
85 HYP075 Hypertension 94.5 0.071
86 NLP001 Nail-patella Syndrome 48.7 0.065
87 OCL006 Ocular Hypertension 39.0 0.065
88 PRN023 Prion Disease 78.3 0.065
89 ACN002 Acanthosis Nigricans 68.0 0.061
90 P CHR071 Charcot-marie-tooth Disease 58.1 0.061
91 INF114 Infection-induced Acute Encephalopathy 3, Susceptibility to 14.8 0.061
92 THR013 Thoracic Outlet Syndrome 33.0 0.061
93 AND005 Androgen Insensitivity Syndrome, Mild 16.3 0.058
94 ART001 Arterial Tortuosity Syndrome 41.1 0.058
95 c CHR130 Charcot-marie-tooth Disease Type 1b 26.0 0.058
96 c CHR136 Charcot-marie-tooth Disease Type 2b 17.1 0.058
97 c CHR137 Charcot-marie-tooth Disease Type 2b1 8.6 0.058
98 c CHR138 Charcot-marie-tooth Disease Type 2b2 7.8 0.058
99 c CHR149 Charcot-marie-tooth Disease Type 4b2 18.1 0.058
100 c CHR297 Charcot-marie-tooth Neuropathy Type 2b1 4.0 0.058
101 c CHR298 Charcot-marie-tooth Neuropathy Type 2b2 4.0 0.058
102 c CHR309 Charcot-marie-tooth Neuropathy Type 4b1 4.0 0.058
103 c CHR310 Charcot-marie-tooth Neuropathy Type 4b2 25.1 0.058
104 MNN014 Mononeuritis 32.0 0.058
105 ADS002 Adie Syndrome 29.8 0.054
106 AMN003 Amnestic Disorder 25.2 0.054
107 AND002 Androgen Insensitivity Syndrome 65.7 0.054
108 c CHR114 Charcot-marie-tooth Neuropathy Type 2 39.6 0.054
109 c CHR117 Charcot-marie-tooth Neuropathy Type 4 28.5 0.054
110 P CHR211 Chromosome 18p Deletion Syndrome 14.9 0.054
111 c CHR290 Charcot-marie-tooth Neuropathy Type 1b 9.9 0.054
112 c CHR296 Charcot-marie-tooth Neuropathy Type 2b 4.0 0.054
113 P HMC003 Hemochromatosis 81.0 0.054
114 SBC012 Subcorneal Pustular Dermatosis 38.3 0.054
115 SMT008 Smith-magenis Syndrome 37.1 0.054
116 TTH006 Tooth Disease 58.7 0.054
117 WST001 West Syndrome 44.8 0.054
118 ACR015 Acrocephalosyndactylia 51.8 0.050
119 BPH001 Buphthalmos 20.5 0.050
120 c CHR319 Charcot-marie-tooth Neuropathy X Type 4 13.2 0.050
121 P CNG015 Congenital Diaphragmatic Hernia 70.2 0.050
122 DBT011 Diabetic Retinopathy 77.6 0.050
123 HRD070 Hereditary Motor and Sensory Neuropathy Vi 16.8 0.050
124 MCR013 Microphthalmia 67.6 0.050
125 P NNP007 Nanophthalmos-1 6.5 0.050
126 NRP001 Neuropathy 77.1 0.050
127 c OPT015 Optic Atrophy Type 1 21.3 0.050
128 c OPT023 Optic Atrophy 2 10.9 0.050
129 c OPT025 Optic Atrophy 6 13.3 0.050
130 OPT026 Optic Atrophy and Cataract, Autosomal Dominant 5.8 0.050
131 c OPT035 Optic Atrophy Type 7 13.7 0.050
132 RYS001 Reye Syndrome 51.8 0.050
133 SCH016 Schimke Immunoosseous Dysplasia 27.8 0.050
134 STH001 Saethre-chotzen Syndrome 59.7 0.050
135 STR039 Sturge-weber Syndrome 44.2 0.050
136 3MS001 3-m Syndrome 36.3 0.046
137 3MS004 3-m Syndrome, Obsl1-related 16.8 0.046
138 AGR001 Age Related Macular Degeneration 88.7 0.046
139 ANR002 Aniridia 51.6 0.046
140 BRN024 Bronchitis 87.4 0.046
141 c CHR023 Charcot-marie-tooth Disease Type 2 39.1 0.046
142 c CHR027 Charcot-marie-tooth Disease Type 4 31.5 0.046
143 P CHR102 Charcot-marie-tooth Neuropathy 40.1 0.046
144 c CHR113 Charcot-marie-tooth Neuropathy Type 1 28.3 0.046
145 EYD002 Eye Disease 75.0 0.046
146 HYP030 Hypoactive Sexual Desire Disorder 20.2 0.046
147 IRS007 Iris Hypoplasia 27.1 0.046
148 LPD009 Lipid Storage Disease 49.3 0.046
149 MGL003 Megalocornea 12.2 0.046
150 NNS006 Non-suppurative Otitis Media 19.6 0.046
151 OCL005 Oculocerebrorenal Syndrome 47.1 0.046
152 PNC044 Pancreatitis 87.9 0.046
153 c RNP003 Renpenning Syndrome 1 23.7 0.046
154 SLP004 Salpingo-oophoritis 21.6 0.046
155 TTR002 Tetra-amelia 35.6 0.046
156 P ACR001 Aicardi-goutieres Syndrome 43.8 0.041
157 c ACR050 Aicardi-goutieres Syndrome Type 1 19.8 0.041
158 c ACR051 Aicardi-goutieres Syndrome Type 2 12.0 0.041
159 c ACR052 Aicardi-goutieres Syndrome Type 3 9.6 0.041
160 c ACR053 Aicardi-goutieres Syndrome Type 4 10.6 0.041
161 c ACR054 Aicardi-goutieres Syndrome Type 5 11.0 0.041
162 AND003 Andersen-tawil Syndrome 32.2 0.041
163 ANG001 Angelman Syndrome 57.8 0.041
164 ANK002 Ankylosing Spondylitis 88.2 0.041
165 ART019 Aortic Valve Stenosis 64.8 0.041
166 ATX002 Ataxia Telangiectasia 82.4 0.041
167 BLN003 Blindness 77.3 0.041
168 CHL091 Cholesterol 79.2 0.041
169 c CHR022 Charcot-marie-tooth Disease Type 1 44.6 0.041
170 c CHR024 Charcot-marie-tooth Disease Type 3 21.4 0.041
171 c CHR184 Chromosome 10q Duplication 7.4 0.041
172 c CHR188 Chromosome 11q Duplication 3.6 0.041
173 c CHR192 Chromosome 12q Duplication 3.6 0.041
174 c CHR194 Chromosome 13q Duplication 3.6 0.041
175 c CHR196 Chromosome 14q Duplication 3.6 0.041
176 c CHR199 Chromosome 15q Duplication 3.6 0.041
177 c CHR207 Chromosome 16q Duplication 3.6 0.041
178 c CHR210 Chromosome 17q Duplication 3.6 0.041
179 c CHR218 Chromosome 19q Duplication 3.6 0.041
180 c CHR224 Chromosome 1q Duplication 3.6 0.041
181 c CHR231 Chromosome 20q Duplication 3.6 0.041
182 c CHR234 Chromosome 21q Duplication 3.6 0.041
183 c CHR240 Chromosome 2q Duplication 3.6 0.041
184 c CHR250 Chromosome 4q Duplication 3.6 0.041
185 c CHR254 Chromosome 5q Duplication 3.6 0.041
186 c CHR258 Chromosome 6q Duplication 3.6 0.041
187 c CHR263 Chromosome 7q Duplication 3.6 0.041
188 c CHR268 Chromosome 8q Duplication 3.6 0.041
189 c CHR272 Chromosome 9q Duplication 3.6 0.041
190 c DYS061 Dystonia 18 10.1 0.041
191 EPS004 Episodic Ataxia/myokymia Syndrome 29.0 0.041
192 c EPS007 Episodic Ataxia Type 2 37.4 0.041
193 ERL008 Early-onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia 21.0 0.041
194 HMC005 Homocysteine 70.8 0.041
195 HRL001 Harlequin Type Ichthyosis 17.4 0.041
196 HYP089 Hyper-ige Syndrome 63.6 0.041
197 HYP186 Hypertrophic Neuropathy of Dejerine-sottas 13.5 0.041
198 INT072 Intestinal Pseudo-obstruction 53.2 0.041
199 P IRD002 Iridogoniodysgenesis 22.9 0.041
200 MCL005 Macular Degeneration 78.3 0.041
201 MNT004 Mental Retardation Syndrome 42.6 0.041
202 MYC002 Mycobacterium Avium Complex Disease 54.9 0.041
203 c RNG004 Ring Chromosome 1 25.0 0.041
204 c RNG005 Ring Chromosome 10 3.6 0.041
205 c RNG006 Ring Chromosome 11 2.6 0.041
206 c RNG007 Ring Chromosome 12 2.6 0.041
207 c RNG008 Ring Chromosome 13 2.6 0.041
208 P RNG010 Ring Chromosome 15 36.5 0.041
209 c RNG011 Ring Chromosome 16 3.6 0.041
210 c RNG012 Ring Chromosome 17 2.6 0.041
211 c RNG013 Ring Chromosome 18 3.6 0.041
212 c RNG014 Ring Chromosome 19 2.6 0.041
213 c RNG015 Ring Chromosome 2 2.6 0.041
214 c RNG016 Ring Chromosome 20 9.3 0.041
215 c RNG017 Ring Chromosome 21 5.6 0.041
216 c RNG018 Ring Chromosome 22 6.6 0.041
217 c RNG019 Ring Chromosome 3 2.6 0.041
218 c RNG020 Ring Chromosome 4 2.6 0.041
219 c RNG021 Ring Chromosome 5 2.6 0.041
220 c RNG022 Ring Chromosome 6 5.6 0.041
221 c RNG023 Ring Chromosome 7 23.4 0.041
222 c RNG024 Ring Chromosome 8 3.6 0.041
223 c RNG025 Ring Chromosome 9 2.6 0.041
224 SHR002 Short Stature 67.1 0.041
225 SPT006 Septooptic Dysplasia 29.0 0.041
226 TRN020 Turner Syndrome 73.3 0.041
227 c USH002 Usher Syndrome Type I 36.0 0.041
228 c USH004 Usher Syndrome Type 2a 22.2 0.041
229 WRM001 Wermer Syndrome 48.5 0.041
230 c XLN043 X-linked Mental Retardation 30 18.8 0.041
231 c XLN054 X-linked Mental Retardation 9 9.6 0.041
232 ACR008 Acrocallosal Syndrome 38.5 0.035
233 ALC005 Alcoholic Pancreatitis 52.1 0.035
234 ALC027 Alcoholism 76.2 0.035
235 ALV005 Alveolar Soft Part Sarcoma 67.6 0.035
236 ANG022 Angel Shaped Phalangoepiphyseal Dysplasia 10.5 0.035
237 ANT011 Antisocial Personality Disorder 54.0 0.035
238 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 14.1 0.035
239 ATH003 Atherosclerosis 81.1 0.035
240 c AXN003 Axenfeld-rieger Syndrome Type 1 16.4 0.035
241 c AXN005 Axenfeld-rieger Syndrome Type 3 8.6 0.035
242 BLD066 Blood Disorders 44.2 0.035
243 BRD005 Borderline Leprosy 20.9 0.035
244 C10001 C10orf2-related Ataxia Neuropathy Spectrum Disorders 13.4 0.035
245 CHR025 Charcot-marie-tooth Disease Intermediate Type 12.3 0.035
246 c CHR026 Charcot-marie-tooth Disease Type X 19.5 0.035
247 CHR078 Chorioretinitis 49.4 0.035
248 c CHR115 Charcot-marie-tooth Neuropathy Type 2a 38.4 0.035
249 c CHR116 Charcot-marie-tooth Neuropathy Type 2e/1f 7.6 0.035
250 c CHR118 Charcot-marie-tooth Neuropathy Type 4a 11.0 0.035
251 c CHR119 Charcot-marie-tooth Neuropathy Type 4c 9.6 0.035
252 c CHR120 Charcot-marie-tooth Neuropathy X Type 1 8.3 0.035
253 c CHR121 Charcot-marie-tooth Neuropathy X Type 5 8.3 0.035
254 CHR122 Charcot-marie-tooth Disease Deafness Recessive Type 10.0 0.035
255 c CHR123 Charcot-marie-tooth Disease Dominant Intermediate 1 4.0 0.035
256 c CHR124 Charcot-marie-tooth Disease Dominant Intermediate 2 4.3 0.035
257 c CHR125 Charcot-marie-tooth Disease Dominant Intermediate 3 7.0 0.035
258 c CHR126 Charcot-marie-tooth Disease Neuronal Type a 2.0 0.035
259 P CHR127 Charcot-marie-tooth Disease Neuronal Type B 2.0 0.035
260 CHR128 Charcot-marie-tooth Disease Neuronal Type D 2.0 0.035
261 c CHR129 Charcot-marie-tooth Disease Type 1a 46.1 0.035
262 c CHR131 Charcot-marie-tooth Disease Type 1c 18.4 0.035
263 c CHR132 Charcot-marie-tooth Disease Type 1d 9.8 0.035
264 c CHR133 Charcot-marie-tooth Disease Type 1e 16.9 0.035
265 c CHR134 Charcot-marie-tooth Disease Type 1f 7.3 0.035
266 c CHR135 Charcot-marie-tooth Disease Type 2a 21.5 0.035
267 c CHR139 Charcot-marie-tooth Disease Type 2c 8.6 0.035
268 c CHR140 Charcot-marie-tooth Disease Type 2d 8.6 0.035
269 c CHR141 Charcot-marie-tooth Disease Type 2e 9.3 0.035
270 c CHR142 Charcot-marie-tooth Disease Type 2f 9.8 0.035
271 c CHR143 Charcot-marie-tooth Disease Type 2g 4.6 0.035
272 c CHR144 Charcot-marie-tooth Disease Type 2h 3.3 0.035
273 c CHR145 Charcot-marie-tooth Disease Type 2i 7.3 0.035
274 c CHR146 Charcot-marie-tooth Disease Type 2j 9.6 0.035
275 c CHR147 Charcot-marie-tooth Disease Type 2k 6.3 0.035
276 c CHR151 Charcot-marie-tooth Disease Type 4e 16.0 0.035
277 CHR152 Charcot-marie-tooth Disease with Ptosis and Parkinsonism 1.0 0.035
278 CHR153 Charcot-marie-tooth Disease with Pyramidal Features, Autosomal Dominant 7.3 0.035
279 c CHR154 Charcot-marie-tooth Disease X-linked 1 5.0 0.035
280 c CHR155 Charcot-marie-tooth Disease X-linked Recessive 2 3.0 0.035
281 c CHR156 Charcot-marie-tooth Disease X-linked Recessive 3 3.0 0.035
282 c CHR214 Chromosome 18q Duplication 3.6 0.035
283 CHR279 Chronic Demyelinizing Neuropathy with Igm Monoclonal 10.7 0.035
284 c CHR289 Charcot-marie-tooth Neuropathy Type 1a 22.4 0.035
285 c CHR291 Charcot-marie-tooth Neuropathy Type 1c 5.0 0.035
286 c CHR292 Charcot-marie-tooth Neuropathy Type 1d 4.0 0.035
287 c CHR293 Charcot-marie-tooth Neuropathy Type 1e 4.0 0.035
288 c CHR294 Charcot-marie-tooth Neuropathy Type 2a1 3.6 0.035
289 c CHR295 Charcot-marie-tooth Neuropathy Type 2a2 4.3 0.035
290 c CHR299 Charcot-marie-tooth Neuropathy Type 2c 10.8 0.035
291 c CHR300 Charcot-marie-tooth Neuropathy Type 2d 5.0 0.035
292 c CHR302 Charcot-marie-tooth Neuropathy Type 2g 3.0 0.035
293 c CHR303 Charcot-marie-tooth Neuropathy Type 2h/2k 4.8 0.035
294 c CHR304 Charcot-marie-tooth Neuropathy Type 2i/2j 7.3 0.035
295 c CHR305 Charcot-marie-tooth Neuropathy Type 2l 4.0 0.035
296 c CHR306 Charcot-marie-tooth Neuropathy Type 2n 3.6 0.035
297 c CHR307 Charcot-marie-tooth Neuropathy Type 2o 3.6 0.035
298 c CHR308 Charcot-marie-tooth Neuropathy Type 2p 4.6 0.035
299 c CHR311 Charcot-marie-tooth Neuropathy Type 4d 5.0 0.035
300 c CHR312 Charcot-marie-tooth Neuropathy Type 4e 7.0 0.035
301 c CHR313 Charcot-marie-tooth Neuropathy Type 4f 5.0 0.035
302 c CHR314 Charcot-marie-tooth Neuropathy Type 4h 6.3 0.035
303 c CHR315 Charcot-marie-tooth Neuropathy Type 4j 8.3 0.035
304 c CHR316 Charcot-marie-tooth Neuropathy X 19.1 0.035
305 c CHR317 Charcot-marie-tooth Neuropathy X Type 2 4.0 0.035
306 c CHR318 Charcot-marie-tooth Neuropathy X Type 3 3.0 0.035
307 CHR348 Charcot-marie-tooth Neuropathy, X-linked Dominant, 1 6.0 0.035
308 CHR349 Charcot-marie-tooth Disease, Axonal, with Vocal Cord Paresis 12.1 0.035
309 P CHR351 Charcot-marie-tooth Disease, Axonal, Type 2n 13.1 0.035
310 c CHR353 Charcot-marie-tooth Disease, Axonal, Type 2l 12.0 0.035
311 CHR354 Charcot-marie-tooth Disease, Foot Deformity of 11.0 0.035
312 c CHR357 Charcot-marie-tooth Disease, Type 2a2 13.1 0.035
313 P CHR371 Charcot-marie-tooth Disease, Dominant Intermediate C 13.0 0.035
314 c CHR373 Charcot-marie-tooth Neuropathy, X-linked Recessive, 2 8.3 0.035
315 P CHR374 Charcot-marie-tooth Neuropathy, X-linked Recessive, 3 11.1 0.035
316 c CHR378 Charcot-marie-tooth Disease, Axonal, Type 2m 13.1 0.035
317 c CHR402 Charcot-marie-tooth Disease, Type 2a1 13.0 0.035
318 c CHR407 Charcot-marie-tooth Disease, Type 4f 12.9 0.035
319 P CHR408 Charcot-marie-tooth Disease, X-linked Recessive, 5 6.0 0.035
320 P CLL020 Collagenopathy Type 2 Alpha 1 12.2 0.035
321 CRN048 Craniofacial-deafness-hand Syndrome 22.5 0.035
322 CRN051 Craniofacial Microsomia 21.0 0.035
323 DBL002 Double Outlet Right Ventricle 48.7 0.035
324 DNM001 Dnm2-related Intermediate Charcot-marie-tooth Neuropathy 16.3 0.035
325 P DST018 Distal Hereditary Motor Neuronopathy Type Viib 18.7 0.035
326 c DST019 Distal Hereditary Motor Neuronopathy, Type Iia 7.0 0.035
327 c DST020 Distal Hereditary Motor Neuronopathy, Type Iib 6.6 0.035
328 c DST022 Distal Hereditary Motor Neuropathy Type V 24.4 0.035
329 ECT008 Ectopia Lentis 25.5 0.035
330 EDW001 Edwards Syndrome 39.9 0.035
331 P FRD001 Friedreich Ataxia 64.9 0.035
332 FRT001 Fourth Cranial Nerve Palsy 14.1 0.035
333 GDP002 Gdap1-related Intermediate Charcot-marie-tooth Neuropathy 14.2 0.035
334 P GLN003 Glanzmann's Thrombasthenia 64.4 0.035
335 c GNG016 Gingival Fibromatosis, 1 13.9 0.035
336 c GNG017 Gingival Fibromatosis, 2 3.8 0.035
337 c GNG018 Gingival Fibromatosis, 3 3.8 0.035
338 c GNG019 Gingival Fibromatosis, 4 3.8 0.035
339 GNT009 Giant Axonal Neuropathy 40.3 0.035
340 P HRD021 Hereditary Sensory Neuropathy 53.1 0.035
341 HRD025 Hereditary Neuropathy with Liability to Pressure Palsies 34.6 0.035
342 c HRD033 Hereditary Sensory and Autonomic Neuropathy Type Ii 26.0 0.035
343 HRD057 Hereditary Pancreatitis 60.4 0.035
344 c HRD078 Hereditary Sensory and Autonomic Neuropathy Type Ic 17.0 0.035
345 c HRD080 Hereditary Sensory and Autonomic Neuropathy Type Iib 8.0 0.035
346 P HRD082 Hereditary Sensory and Autonomic Neuropathy Type V 43.1 0.035
347 P HRD088 Hereditary Neuropathies 37.9 0.035
348 HYP003 Hypermethioninemia 49.5 0.035
349 HYP362 Hyperopia 27.1 0.035
350 INF030 Infectious Mononucleosis 72.7 0.035
351 KRS002 Kars-related Intermediate Charcot-marie-tooth Neuropathy 14.4 0.035
352 LBR002 Leber Hereditary Optic Neuropathy 61.3 0.035
353 LCL006 Localized Scleroderma 59.3 0.035
354 c LSS005 Lissencephaly 1 26.8 0.035
355 LVR011 Liver Cancer 90.0 0.035
356 P MCR100 Microlissencephaly I 14.3 0.035
357 MHR001 Mohr-tranebjaerg Syndrome 32.6 0.035
358 P MLT020 Multiple Sclerosis 95.0 0.035
359 MLT067 Multiple Endocrine Neoplasia Type 4 17.6 0.035
360 MLT074 Multiple Endocrine Neoplasia 71.8 0.035
361 P MNT042 Mental Retardation, X-linked, Nonspecific 29.2 0.035
362 MPZ001 Mpz-related Intermediate Charcot-marie-tooth Neuropathy 12.3 0.035
363 c MYP018 Myopia 6 13.4 0.035
364 c NNP008 Nanophthalmos 3 2.0 0.035
365 c NPH019 Nephronophthisis 1 15.8 0.035
366 c NPH031 Nephronophthisis 3 16.6 0.035
367 c NPH033 Nephronophthisis 7 11.2 0.035
368 c NPH034 Nephronophthisis 8 3.0 0.035
369 c NPH035 Nephronophthisis 9 4.0 0.035
370 NRN002 Neuronitis 82.8 0.035
371 NRP003 Neuropathy Ataxia Retinitis Pigmentosa Syndrome 16.1 0.035
372 c NRP004 Neuropathy Hereditary Sensory and Autonomic Type 1 10.3 0.035
373 NRP005 Neuropathy Sensory Spastic Paraplegia 1.0 0.035
374 NRP006 Neuropathy, Congenital, with Arthrogryposis Multiplex 2.0 0.035
375 NRP007 Neuropathy, Distal Hereditary Motor, Jerash Type 5.8 0.035
376 NRP008 Neuropathy, Hereditary Motor and Sensory, Lom Type 7.6 0.035
377 NRP009 Neuropathy, Hereditary Motor and Sensory, Okinawa Type 4.0 0.035
378 NRP010 Neuropathy, Hereditary Motor and Sensory, Russe Type 5.6 0.035
379 NRP012 Neuropathy, Paraneoplastic Sensory 12.3 0.035
380 NRP013 Neuropathy, Congenital Hypomyelinating, 1 14.4 0.035
381 NRP014 Neuropathy, Hereditary Sensory, with Spastic Paraplegia 14.8 0.035
382 NRP016 Neuropathy, Recurrent, with Pressure Palsies 15.8 0.035
383 NRP017 Neuropathy, Motor and Sensory, Russe Type 11.7 0.035
384 OCL010 Ocular Hypotension 41.6 0.035
385 OPT006 Optic Nerve Disease 19.3 0.035
386 ORB003 Orbital Tenonitis 7.6 0.035
387 c PFF008 Pfeiffer Syndrome Type 1, 2 and 3 12.7 0.035
388 PLG006 Polg-related Ataxia Neuropathy Spectrum Disorders 11.8 0.035
389 PNC055 Pancreatitis, Pediatric 13.9 0.035
390 PNC077 Pancreatitis, Idiopathic 16.4 0.035
391 PNC078 Pancreatitis, Chronic, Protection Against 14.3 0.035
392 PRP048 Prps1-related Charcot-marie-tooth Neuropathy X Type 5 10.9 0.035
393 PRT015 Partial Third-nerve Palsy 17.1 0.035
394 P PTS001 Patau Syndrome 31.5 0.035
395 RNL007 Renal Tubular Acidosis 61.9 0.035
396 RTN016 Retinal Degeneration 61.8 0.035
397 SPN080 Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive 18.3 0.035
398 SPP002 Sipple Syndrome 29.8 0.035
399 STR046 Stargardt Macular Degeneration 33.1 0.035
400 TFT003 Tufting Enteropathy 21.6 0.035
401 TLS001 Tolosa-hunt Syndrome 20.0 0.035
402 c TRS010 Trisomy 17 Mosaicism 8.6 0.035
403 TRT004 Tourette Syndrome 72.1 0.035
404 TTL002 Total Third-nerve Palsy 7.6 0.035
405 VSC007 Vascular Disease 76.5 0.035
406 VSC017 Visceral Neuropathy Familial 12.8 0.035
407 VTL001 Vitelliform Macular Dystrophy 48.1 0.035
408 WSK001 Wiskott-aldrich Syndrome 76.3 0.035
409 c XLN045 X-linked Mental Retardation 45 8.0 0.035
410 c XLN047 X-linked Mental Retardation 54 3.8 0.035
411 c XLN048 X-linked Mental Retardation 58 9.0 0.035
412 c XLN049 X-linked Mental Retardation 59 8.0 0.035
413 c XLN051 X-linked Mental Retardation 72 8.3 0.035
414 c XLN052 X-linked Mental Retardation 88 6.0 0.035
415 c XLN053 X-linked Mental Retardation 89 7.2 0.035
416 c XLN055 X-linked Mental Retardation 90 6.6 0.035
417 c XLN056 X-linked Mental Retardation 91 7.6 0.035
418 c XLN057 X-linked Mental Retardation 93 8.3 0.035
419 c XLN058 X-linked Mental Retardation 94 8.3 0.035
420 c XLN059 X-linked Mental Retardation 95 8.0 0.035
421 YRS001 Yars-related Intermediate Charcot-marie-tooth Neuropathy 12.3 0.035
422 ABD008 Abidi X-linked Mental Retardation Syndrome 16.7 0.029
423 ADM003 Adamtsl4-related Eye Disorders 10.2 0.029
424 AGN001 Aagenaes Syndrome 31.0 0.029
425 AGR003 Age-related Macular Degeneration 1 17.2 0.029
426 AGR004 Age-related Macular Degeneration 2 10.2 0.029
427 AGR005 Age-related Macular Degeneration 3 9.2 0.029
428 AGR006 Age-related Macular Degeneration 4 9.2 0.029
429 AGR007 Age-related Macular Degeneration 5 7.2 0.029
430 AGR008 Age-related Macular Degeneration 6 7.2 0.029
431 AGR009 Age-related Macular Degeneration 7 9.2 0.029
432 AGR010 Age-related Macular Degeneration 8 6.6 0.029
433 AGR011 Age-related Macular Degeneration 9 9.2 0.029
434 ALL001 Allan-herndon-dudley Syndrome 46.0 0.029
435 P ALZ001 Alzheimer's Disease 99.7 0.029
436 AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 14.4 0.029
437 P AML007 Amelogenesis Imperfecta Hypoplastic/hypomaturation X-linked 1 5.0 0.029
438 AML008 Amelogenesis Imperfecta Local Hypoplastic 2.0 0.029
439 c AML016 Amelogenesis Imperfecta, Type 1e 15.4 0.029
440 P AMY001 Amyotrophic Lateral Sclerosis 97.0 0.029
441 ANM004 Anemia 87.0 0.029
442 ANR014 Aniridia Mental Retardation Syndrome 13.5 0.029
443 ART004 Aortic Atherosclerosis 55.1 0.029
444 ATX003 Ataxia with Isolated Vitamin E Deficiency 27.5 0.029
445 c AXN004 Axenfeld-rieger Syndrome Type 2 4.6 0.029
446 BLR012 Biliary Hypoplasia 10.4 0.029
447 BRC059 Brachydacytly-mental Retardation Syndrome 17.3 0.029
448 CFF002 Coffin-lowry Syndrome 59.3 0.029
449 CGN001 Cogan-reese Syndrome 3.0 0.029
450 P CHR182 Chromosome 10p Duplication 9.2 0.029
451 c CHR186 Chromosome 11p Duplication 3.3 0.029
452 c CHR190 Chromosome 12p Duplication 3.6 0.029
453 c CHR203 Chromosome 16p Duplication 3.6 0.029
454 CHR205 Chromosome 16p13.3 Duplication 3.3 0.029
455 c CHR209 Chromosome 17p Duplication 3.6 0.029
456 c CHR212 Chromosome 18p Duplication 4.6 0.029
457 c CHR216 Chromosome 19p Duplication 3.6 0.029
458 c CHR221 Chromosome 1p Duplication 3.6 0.029
459 c CHR229 Chromosome 20p Duplication 3.6 0.029
460 c CHR236 Chromosome 22q Duplication 1.0 0.029
461 c CHR238 Chromosome 2p Duplication 3.6 0.029
462 c CHR244 Chromosome 3p Duplication 5.6 0.029
463 c CHR248 Chromosome 4p Duplication 3.6 0.029
464 c CHR252 Chromosome 5p Duplication 4.6 0.029
465 c CHR256 Chromosome 6p Duplication 3.6 0.029
466 c CHR261 Chromosome 7p Duplication 3.6 0.029
467 c CHR265 Chromosome 8p Duplication 3.6 0.029
468 c CHR270 Chromosome 9p Duplication 3.6 0.029
469 c CHR274 Chromosome Xq Duplication 4.6 0.029
470 CHR362 Chromosome 17q21.31 Duplication Syndrome 7.7 0.029
471 CHR363 Chromosome 17q23.1-q23.2 Duplication Syndrome 2.0 0.029
472 c CHR365 Chromosome 2q31.1 Duplication Syndrome 1.0 0.029
473 CHR394 Chromosome 19p13.13 Duplication Syndrome 7.7 0.029
474 CLF002 Cleft Palate 68.5 0.029
475 CMP010 Complex Regional Pain Syndrome 64.4 0.029
476 CNT016 Central Retinal Vein Occlusion 51.5 0.029
477 CNT025 Central Pontine Myelinolysis 31.7 0.029
478 CRB045 Cerebellar Hypoplasia 42.7 0.029
479 CRB061 Cerebellar Hypoplasia Tapetoretinal Degeneration 10.3 0.029
480 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 2.0 0.029
481 CRB067 Cerebral Calcification Cerebellar Hypoplasia 1.0 0.029
482 CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 14.4 0.029
483 CRB109 Cerebellar Hypoplasia, Mental Retardation, and Quadrupedal Locomotion 2 11.3 0.029
484 c DBT009 Diabetes Mellitus 86.6 0.029
485 DBT012 Diabetes and Pancreatic Exocrine Dysfunction 15.4 0.029
486 DBT014 Diabetes Hypogonadism Deafness Mental Retardation 11.4 0.029
487 DBT016 Diabetes Persistent Mullerian Ducts 2.0 0.029
488 DBT017 Diabetes-deafness Syndrome, Maternally Transmitted 5.5 0.029
489 DBT018 Diabetic Mastopathy 5.6 0.029
490 DBT019 Diabetes and Hearing Loss 12.9 0.029
491 P DBT031 Diabetes, Type 2 62.4 0.029
492 DBT042 Diabetes, Permanent Neonatal 32.1 0.029
493 DBT075 Diabetes 222100 12.3 0.029
494 DWN001 Down Syndrome 83.2 0.029
495 DYS029 Dyssegmental Dysplasia 14.7 0.029
496 DYS036 Dysequilibrium Syndrome 26.7 0.029
497 DYS043 Dysmorphism Abnormal Vocalization Mental Retardation 13.5 0.029
498 P EPS003 Episodic Ataxia 55.0 0.029
499 EPS008 Episodic Ataxia with Nystagmus 13.5 0.029
500 c EPS009 Episodic Ataxia Type 5 12.1 0.029
501 EYC003 Eye Accommodation Disease 11.2 0.029
502 EYD001 Eye Degenerative Disease 8.3 0.029
503 EYD003 Eye Diseases, Hereditary 8.2 0.029
504 FBL002 Fibular Hypoplasia and Complex Brachydactyly 17.1 0.029
505 FBL007 Fibular Hypoplasia Scapulo Pelvic Dysplasia Absent 10.4 0.029
506 FBL009 Fibular Hypoplasia 17.9 0.029
507 FCH002 Fuchs' Heterochromic Uveitis 25.7 0.029
508 FGS001 Fg Syndrome 39.2 0.029
509 FGS004 Fg Syndrome 4 21.0 0.029
510 FVL001 Foveal Hypoplasia and Anterior Segment Dysgenesis 12.2 0.029
511 FVL002 Foveal Hypoplasia 16.7 0.029
512 GND008 Goniodysgenesis Mental Retardation Short Stature 4.0 0.029
513 GST033 Gestational Diabetes 78.3 0.029
514 HRD010 Hereditary Spastic Paraplegia 56.3 0.029
515 HYD006 Hydrocephalus 69.4 0.029
516 HYD007 Hydrophthalmos 8.3 0.029
517 HYP222 Hypoplasia of the Tibia with Polydactyly 11.3 0.029
518 HYP224 Hypoplastic Thumb Mullerian Aplasia 2.0 0.029
519 HYP225 Hypoplastic Thumbs Hydranencephaly 1.0 0.029
520 HYP227 Hyposmia Nasal Hypoplasia Hypogonadism 10.4 0.029
521 HYP229 Hypospadias Mental Retardation Goldblatt Type 15.3 0.029
522 INF040 Infundibular Hypoplasia and Hypopituitarism 13.3 0.029
523 INT063 Intellectual Disability 63.6 0.029
524 INT105 Intellectual Disability Multi-gene Panels 13.8 0.029
525 IRD003 Iridocorneal Endothelial Syndrome 8.0 0.029
526 ISC007 Ischiadic Hypoplasia Renal Dysfunction Immunodeficiency 10.4 0.029
527 LBS001 Lubs X-linked Mental Retardation Syndrome 20.6 0.029
528 LJN002 Lujan Syndrome 20.2 0.029
529 LNZ001 Lenz Microphthalmia Syndrome 21.6 0.029
530 LYD003 Leydig Cells Hypoplasia 27.4 0.029
531 LYD004 Leydig Cell Hypoplasia/agenesis 11.2 0.029
532 LYD005 Leydig Cell Hypoplasia with Pseudohermaphroditism 14.3 0.029
533 LYD006 Leydig Cell Hypoplasia with Hypergonadotropic Hypogonadism 6.0 0.029
534 MCR028 Microphthalmia with Linear Skin Defects 31.5 0.029
535 MCR090 Microspherophakia with Hernia 4.0 0.029
536 P MGR002 Migraine 77.4 0.029
537 MNT003 Mental Retardation in Cri-du-chat Syndrome 19.5 0.029
538 MNT005 Mental Retardation-skeletal Dysplasia 5.0 0.029
539 MNT008 Mental Retardation Anophthalmia Craniosynostosis 13.4 0.029
540 MNT009 Mental Retardation Arachnodactyly Hypotonia Telangiectasia 4.0 0.029
541 MNT010 Mental Retardation Athetosis Microphthalmia 3.0 0.029
542 MNT011 Mental Retardation Cataracts Calcified Pinnae Myopathy 3.0 0.029
543 MNT012 Mental Retardation Coloboma Slimness 3.0 0.029
544 MNT013 Mental Retardation Dysmorphism Hypogonadism Diabetes 3.0 0.029
545 MNT014 Mental Retardation Epilepsy 26.6 0.029
546 MNT015 Mental Retardation Epilepsy Bulbous Nose 4.0 0.029
547 MNT016 Mental Retardation Gynecomastia Obesity X-linked 3.0 0.029
548 MNT017 Mental Retardation Hip Luxation G6pd Variant 3.0 0.029
549 MNT018 Mental Retardation Hypocupremia Hypobetalipoproteinemia 3.0 0.029
550 MNT019 Mental Retardation Hypotonia Skin Hyperpigmentation 4.0 0.029
551 MNT020 Mental Retardation Macrocephaly Coarse Facies Hypotonia 3.0 0.029
552 MNT021 Mental Retardation Microcephaly Phalangeal Facial 3.0 0.029
553 MNT022 Mental Retardation Microcephaly Unusual Facies 3.0 0.029
554 MNT024 Mental Retardation Progressive Spasticity 6.0 0.029
555 MNT025 Mental Retardation Short Stature Deafness Genital 4.0 0.029
556 MNT026 Mental Retardation Short Stature Microcephaly Eye 4.0 0.029
557 MNT027 Mental Retardation Skeletal Dysplasia Abducens Palsy 6.6 0.029
558 MNT028 Mental Retardation Smith Fineman Myers Type 5.6 0.029
559 MNT030 Mental Retardation Syndrome, Belgian Type 4.0 0.029
560 MNT032 Mental Retardation X-linked Borderline Maoa Metabolism Anomaly 3.0 0.029
561 MNT033 Mental Retardation X-linked Dysmorphism 3.0 0.029
562 c MNT035 Mental Retardation X-linked Syndromic 7 6.3 0.029
563 MNT036 Mental Retardation X-linked with Cerebellar Hypoplasia and Distinctive Facial Appearance 21.8 0.029
564 MNT037 Mental Retardation X-linked, South African Type 4.0 0.029
565 MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 6.0 0.029
566 MNT039 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block 3.0 0.029
567 MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 4.0 0.029
568 c MNT041 Mental Retardation, X-linked 14 5.6 0.029
569 c MNT043 Mental Retardation-hypotonic Facies Syndrome X-linked, 1 9.5 0.029
570 MNT044 Mental Retardation-polydactyly-uncombable Hair 3.0 0.029
571 MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 20.5 0.029
572 MNT047 Mental Retardation Syndromes, Idiopathic 6.0 0.029
573 c MNT048 Mental Retardation, Autosomal Dominant 1 12.5 0.029
574 c MNT049 Mental Retardation, Autosomal Dominant 5 8.0 0.029
575 c MNT050 Mental Retardation, Autosomal Dominant 9 5.0 0.029
576 P MNT051 Mental Retardation, Autosomal Recessive 7 17.5 0.029
577 MNT052 Mental Retardation, Nonsyndromic 7.6 0.029
578 MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 8.0 0.029
579 c MNT055 Mental Retardation, X-linked, Syndromic 14 8.0 0.029
580 MNT056 Mental Retardation, X-linked, Syndromic, Nascimento Type 9.0 0.029
581 MNT057 Mental Retardation, X-linked, Syndromic, Raymond Type 5.0 0.029
582 MNT058 Mental Retardation, X-linked, Syndromic, Turner Type 10.0 0.029
583 MNT059 Mental Retardation, X-linked, with Growth Hormone Deficiency 5.6 0.029
584 MNT060 Mental Retardation, X-linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor 6.0 0.029
585 P MNT061 Mental Retardation-hypotonic Facies Syndrome, X-linked 14.0 0.029
586 P MNT063 Mental Retardation, X-linked 28.4 0.029
587 c MNT064 Mental Retardation, Autosomal Recessive, 6 17.4 0.029
588 c MNT065 Mental Retardation, X-linked Nonspecific, Type 46 17.5 0.029
589 c MNT066 Mental Retardation, X-linked 36/43/54 16.4 0.029
590 MNT067 Mental Retardation, Joint Hypermobility and Skin Laxity, with or Without Metabolic Abnormalities 18.4 0.029
591 MNT068 Mental Retardation, X-linked, Fraxe Type 18.5 0.029
592 MNT069 Mental Retardation with Language Impairment and Autistic Features 7.0 0.029
593 c MNT070 Mental Retardation, X-linked Syndromic 16 15.5 0.029
594 c MNT071 Mental Retardation, X-linked Nonspecific, 63 17.3 0.029
595 MNT072 Mental Retardation, Profound 15.4 0.029
596 MNT073 Mental Retardation, X-linked 17/31, Microduplication 19.1 0.029
597 c MNT074 Mental Retardation, X-linked 84 14.4 0.029
598 c MNT075 Mental Retardation, X-linked-49 5.0 0.029
599 c MNT076 Mental Retardation, X-linked 20 4.0 0.029
600 c MNT077 Mental Retardation, X-linked, 1 19.5 0.029
601 MNT078 Mental Retardation, Severe, with Spasticity and Tapetoretinal Degeneration 5.0 0.029
602 c MNT079 Mental Retardation, X-linked 23, Nonspecific 16.5 0.029
603 c MNT080 Mental Retardation, X-linked 82 4.0 0.029
604 c MNT082 Mental Retardation, X-linked Nonspecific, Type 50 5.0 0.029
605 c MNT083 Mental Retardation, Autosomal Recessive, 9 4.0 0.029
606 MNT084 Mental Retardation, X-linked, with Short Stature 5.0 0.029
607 c MNT085 Mental Retardation, X-linked, 2 4.0 0.029
608 c MNT086 Mental Retardation, X-linked, Syndromic 12 15.5 0.029
609 c MNT087 Mental Retardation, X-linked 77 4.0 0.029
610 c MNT088 Mental Retardation, X-linked 81 4.0 0.029
611 c MNT089 Mental Retardation, Autosomal Recessive, 8 4.0 0.029
612 c MNT090 Mental Retardation, Autosomal Recessive, 12 4.0 0.029
613 MNT091 Mental Retardation, X-linked, Syndromic-5, with Dandy-walker Malformation, Basal Ganglia Disease, and Seizures 4.0 0.029
614 c MNT092 Mental Retardation, X-linked 78 4.0 0.029
615 c MNT093 Mental Retardation, X-linked 52 4.0 0.029
616 c MNT094 Mental Retardation, Autosomal Recessive, 11 4.0 0.029
617 c MNT095 Mental Retardation, X-linked Nonspecific, 42 4.0 0.029
618 MNT097 Mental Retardation Syndrome, X-linked, Armfield Type 4.0 0.029
619 c MNT098 Mental Retardation, X-linked-53 4.0 0.029
620 c MNT099 Mental Retardation, Autosomal Recessive, 10 4.0 0.029
621 c MNT100 Mental Retardation, Autosomal Recessive, 4 4.0 0.029
622 c MNT101 Mental Retardation, Autosomal Recessive 3 17.4 0.029
623 MNT104 Mental Retardation, X-linked, Syndromic-4, with Congenital Contractures and Low Fingertip Arches 14.4 0.029
624 c MNT105 Mental Retardation, Autosomal Recessive 13 16.5 0.029
625 c MNT106 Mental Retardation, Autosomal Dominant 2 14.4 0.029
626 MNT107 Mental Retardation, Fra12a Type 15.4 0.029
627 MNT108 Mental Retardation, X-linked, Syndromic, Jarid1c-related 15.4 0.029
628 c MNT109 Mental Retardation, X-linked, Syndromic 15 (cabezas Type) 17.5 0.029
629 c MNT110 Mental Retardation, X-linked-92 15.5 0.029
630 c MNT111 Mental Retardation, Autosomal Recessive 2a 17.4 0.029
631 MNT113 Mental Retardation, X-linked, Syndromic 6, with Gynecomastia and Obesity 14.3 0.029
632 c MNT114 Mental Retardation, X-linked Nonspecific, Type 19 15.4 0.029
633 P MNT115 Mental Retardation, Autosomal Dominant 3 17.4 0.029
634 P MNT116 Mental Retardation, X-linked Syndromic 20.9 0.029
635 MNT117 Mental Retardation, X-linked, with or Without Epilepsy 17.3 0.029
636 MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 17.4 0.029
637 MNT119 Mental Retardation, X-linked, with Isolated Growth Hormone Deficiency 17.4 0.029
638 c MNT120 Mental Retardation, Autosomal Dominant 4 16.5 0.029
639 c MNT122 Mental Retardation, X-linked, 21/34 16.5 0.029
640 MNT123 Mental Retardation, X-linked, Zdhhc9-related 15.4 0.029
641 MNT124 Mental Retardation, X-linked, Syndromic-2, with Dysmorphism and Cerebral Atrophy 14.5 0.029
642 c MNT125 Mental Retardation, Autosomal Recessive 1 13.0 0.029
643 MSS001 Masa Syndrome 34.4 0.029
644 MTR031 Motor Neuro-ophthalmic Disorders 9.8 0.029
645 P MYP006 Myopia 63.6 0.029
646 c MYP042 Myopia 17 10.2 0.029
647 MYT010 Myotonia Mental Retardation Skeletal Anomalies 13.3 0.029
648 OCL014 Oculofaciocardiodental Syndrome 18.5 0.029
649 OLG008 Oligomeganephronic Renal Hypoplasia 11.4 0.029
650 OPT019 Opthalmoplegia Mental Retardation Lingua Scrotalis 13.2 0.029
651 ORT006 Orthostatic Hypotension 51.5 0.029
652 PLM063 Pulmonary Hypoplasia Familial Primary 10.3 0.029
653 PRC022 Pericardium Absent Mental Retardation Short Stature 13.3 0.029
654 PRM009 Primary Eye Hypotony 10.6 0.029
655 PRM036 Premature Atherosclerosis with Photomyoclonic Epilepsy, Deafness, Diabetes Mellitus, Nephropathy, an 8.1 0.029
656 PST055 Postural Hypotension 40.8 0.029
657 PTR006 Peters Plus Syndrome 27.0 0.029
658 PTT014 Pitt-hopkins Syndrome 36.3 0.029
659 RDL008 Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 11.4 0.029
660 RNL002 Renal Agenesis 52.1 0.029
661 RNL006 Renal Glycosuria 36.1 0.029
662 RNL008 Renal Artery Atheroma 14.3 0.029
663 RNL025 Renal Hypoplasia 27.1 0.029
664 RNL046 Renal Tubular Acidosis, Distal, Autosomal Dominant 11.6 0.029
665 RNL060 Renal Hypoplasia, Isolated 12.3 0.029
666 RTN018 Retinal Disease 59.4 0.029
667 RTN022 Retinal Vein Occlusion 65.4 0.029
668 RTN087 Retinal Degeneration, Late-onset, Autosomal Dominant 10.6 0.029
669 RTN100 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type 9.3 0.029
670 SCK003 Sickle Cell Anemia 79.2 0.029
671 SDR004 Siderius X-linked Mental Retardation Syndrome 19.2 0.029
672 SHR018 Short Stature Mental Retardation Eye Anomalies 13.0 0.029
673 SLC018 Slc6a8-related Creatine Transporter Deficiency 18.8 0.029
674 SLC019 Slc9a6-related Syndromic Mental Retardation 6.6 0.029
675 SLP006 Sleep Apnea 74.3 0.029
676 P SMP003 Simpson-golabi-behmel Syndrome 43.1 0.029
677 SPN092 Spinal Shock 18.3 0.029
678 SPS050 Spasticity Mental Retardation 13.3 0.029
679 P STC001 Stickler Syndrome 45.9 0.029
680 STC003 Stickler Syndrome Col2a1 9.2 0.029
681 SX2001 Sox2-related Eye Disorders 10.2 0.029
682 SX6001 Six6-related Eye Disorders 9.2 0.029
683 SZR002 Seizures 70.7 0.029
684 SZR004 Seizures Mental Retardation Hair Dysplasia 13.5 0.029
685 THR024 Thrombosis 74.6 0.029
686 P TRP001 Triple-a Syndrome 46.2 0.029
687 VLD001 Vldlr-associated Cerebellar Hypoplasia 17.4 0.029
688 WBR001 Weber Syndrome 37.5 0.029
689 WHT006 White Matter Hypoplasia, Corpus Callosum Agenesia, and Mental Retardation 11.9 0.029
690 c XLN040 X-linked Mental Retardation 17 12.9 0.029
691 c XLN044 X-linked Mental Retardation 41 4.0 0.029
692 c XLN050 X-linked Mental Retardation 63 5.3 0.029
693 XLN061 X-linked Mental Retardation with Epilepsy 27.5 0.029
694 c XLN062 X-linked Syndromic Mental Retardation 10 11.6 0.029
695 P ZLL001 Zellweger Syndrome 61.4 0.029
696 16Q001 16q24.3 Microdeletion Syndrome 9.7 0.020
697 17Q001 17q21.31 Microdeletion Syndrome 16.2 0.020
698 P 1Q2001 1q21.1 Microdeletion 14.6 0.020
699 c 1Q4001 1q44 Microdeletion Syndrome 7.3 0.020
700 46X010 46xy Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 13.2 0.020
701 c 5Q2001 5q22 Deletion Syndrome 11.9 0.020
702 ABC008 Abca4-related Stargardt Disease 1 15.7 0.020
703 ACH004 Achondroplasia 66.9 0.020
704 P ACH010 Achondrogenesis Type Ii 38.6 0.020
705 ACM001 Acampomelic Campolelic Dysplasia 11.7 0.020
706 ACR020 Acropectorovertebral Dysplasia 12.7 0.020
707 ACR046 Acropectorovertebral Dysplasia F Form 13.5 0.020
708 ACT070 Acute Inflammation of Lacrimal Passage 24.4 0.020
709 ACT077 Acute Orbital Inflammation 24.9 0.020
710 ACT131 Acetabular Dysplasia 12.4 0.020
711 AGT001 Agat Deficiency 33.9 0.020
712 ALG002 Alagille Syndrome 65.1 0.020
713 ALS002 Alström Syndrome 16.6 0.020
714 ALV006 Alveolar Capillary Dysplasia 36.7 0.020
715 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 26.7 0.020
716 c ALZ003 Alzheimer Disease Type 2 37.6 0.020
717 P ALZ004 Alzheimer Disease Familial 52.2 0.020
718 c ALZ005 Alzheimer Disease Type 3 51.5 0.020
719 ALZ007 Alzheimer's Disease Without Neurofibrillary Tangles 5.8 0.020
720 ALZ008 Alzheimer Disease Risk Factor (apoe Genotype) 14.2 0.020
721 ALZ024 Alzheimer Disease, Pathogenesis, Association with 16.5 0.020
722 ALZ025 Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual Plaques 16.9 0.020
723 ALZ026 Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia 10.8 0.020
724 c AMY007 Amyotrophic Lateral Sclerosis, Type 4 16.5 0.020
725 c AMY008 Amyotrophic Lateral Sclerosis Type 2 8.6 0.020
726 c AMY019 Amyotrophic Lateral Sclerosis Type 10 13.3 0.020
727 c AMY020 Amyotrophic Lateral Sclerosis Type 11 7.0 0.020
728 c AMY021 Amyotrophic Lateral Sclerosis Type 3 2.6 0.020
729 c AMY022 Amyotrophic Lateral Sclerosis Type 5 2.0 0.020
730 c AMY023 Amyotrophic Lateral Sclerosis Type 6 5.0 0.020
731 c AMY024 Amyotrophic Lateral Sclerosis Type 7 2.6 0.020
732 c AMY025 Amyotrophic Lateral Sclerosis Type 8 7.6 0.020
733 c AMY026 Amyotrophic Lateral Sclerosis Type 9 6.0 0.020
734 ANM001 Anemia of Prematurity 39.4 0.020
735 ANM005 Anemia Due to Adenosine Triphosphatase Deficiency 15.5 0.020
736 ANM007 Anemia, X-linked, Without Thrombocytopenia 15.8 0.020
737 ANM008 Anemia, Sideroblastic, with Ataxia 18.2 0.020
738 ANM009 Anemia, Hemolytic, Rh-null, Regulator Type 18.2 0.020
739 ANM010 Anemia, Neonatal Hemolytic, Fatal and Near-fatal 16.5 0.020
740 ANM012 Anemia, Hemolytic, Due to Umph1 Deficiency 7.8 0.020
741 ANM013 Anemia, Megaloblastic, Due to Dhfr Deficiency 19.7 0.020
742 ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 3.6 0.020
743 ANP018 Anophthalmia Plus Syndrome 4.3 0.020
744 ANS012 Anus Disease 26.7 0.020
745 ANT026 Anterior Segment Mesenchymal Dysgenesis 23.8 0.020
746 ANT032 Anterior Polar Cataract 2 10.3 0.020
747 APL001 Aplastic Anemia 83.9 0.020
748 APN001 Apnea 70.3 0.020
749 ARR001 Arrhythmogenic Right Ventricular Dysplasia 52.4 0.020
750 ARS001 Aarskog-scott Syndrome 46.4 0.020
751 c ART038 Arthrogryposis Distal Type 2b 17.7 0.020
752 c ATL002 Atelosteogenesis Ii 20.5 0.020
753 ATX004 Ataxia 73.2 0.020
754 BCH001 Beach Ear 26.2 0.020
755 BLD009 Bladder Neck Obstruction 23.9 0.020
756 BMR001 Boomerang Dysplasia 24.8 0.020
757 BND003 Binder Syndrome 19.8 0.020
758 BRL002 Buruli Ulcer Disease 41.7 0.020
759 CHL068 Cholestasis 74.5 0.020
760 CHN008 Chandler Syndrome 20.1 0.020
761 CHR100 Chronic Ulcer of Skin 18.6 0.020
762 CHR158 Charles Bonnet Syndrome 14.6 0.020
763 CHR178 Chromosomal Triplication 10.0 0.020
764 c CHR183 Chromosome 10q Deletion 10.9 0.020
765 c CHR187 Chromosome 11q Deletion 5.6 0.020
766 c CHR191 Chromosome 12q Deletion 3.6 0.020
767 c CHR193 Chromosome 13q Deletion 7.0 0.020
768 c CHR195 Chromosome 14q Deletion 3.6 0.020
769 c CHR198 Chromosome 15q Deletion 3.6 0.020
770 P CHR200 Chromosome 16 Trisomy 9.0 0.020
771 c CHR206 Chromosome 16q Deletion 3.6 0.020
772 c CHR217 Chromosome 19q Deletion 4.6 0.020
773 c CHR223 Chromosome 1q Deletion 3.6 0.020
774 c CHR227 Chromosome 20 Trisomy 4.3 0.020
775 c CHR230 Chromosome 20q Deletion 5.6 0.020
776 c CHR233 Chromosome 21q Deletion 3.6 0.020
777 c CHR235 Chromosome 22q Deletion 4.6 0.020
778 c CHR239 Chromosome 2q Deletion 3.6 0.020
779 P CHR241 Chromosome 2q24 Microdeletion Syndrome 5.0 0.020
780 c CHR242 Chromosome 3, Trisomy 3q 2.0 0.020
781 c CHR245 Chromosome 3q Deletion 3.6 0.020
782 CHR246 Chromosome 3q29 Microduplication Syndrome 3.0 0.020
783 c CHR249 Chromosome 4q Deletion 3.6 0.020
784 c CHR253 Chromosome 5q Deletion 7.2 0.020
785 c CHR257 Chromosome 6q Deletion 3.6 0.020
786 c CHR259 Chromosome 6q25 Microdeletion Syndrome 2.6 0.020
787 c CHR262 Chromosome 7q Deletion 3.6 0.020
788 c CHR267 Chromosome 8q Deletion 3.6 0.020
789 c CHR271 Chromosome 9q Deletion 5.6 0.020
790 CHR360 Chromosome 4q32.1-q32.2 Triplication Syndrome 9.2 0.020
791 c CHR416 Chromosome 17q Deletion 3.3 0.020
792 CHS006 Chst3-related Skeletal Dysplasia 21.5 0.020
793 CL9001 Col9a1-related Multiple Epiphyseal Dysplasia 14.9 0.020
794 CLL002 Collecting Duct Carcinoma 50.7 0.020
795 CMM005 Common Cold 57.9 0.020
796 P CMR001 Camurati-engelmann Disease 53.6 0.020
797 P CNG003 Congenital Dyserythropoietic Anemia 55.9 0.020
798 CNG027 Congenital Hemolytic Anemia 47.6 0.020
799 CNG036 Congenital Cataracts 46.1 0.020
800 c CNG037 Congenital Dyserythropoietic Anemia Ii 24.1 0.020
801 c CNG045 Congenital Dyserythropoietic Anemia Type I 39.2 0.020
802 CNG049 Congenital Stromal Corneal Dystrophy 23.5 0.020
803 CNG137 Cngb3-related Stargardt Disease 1 16.3 0.020
804 CNN007 Connective Tissue Dysplasia Spellacy Type 12.6 0.020
805 CNT001 Contagious Pustular Dermatitis 27.5 0.020
806 CRB064 Cerebelloparenchymal Disorder 3 12.0 0.020
807 CRB065 Cerebellum Agenesis Hydrocephaly 10.5 0.020
808 CRB076 Cerebro Facio Thoracic Dysplasia 13.2 0.020
809 CRD008 Cardiac Valvular Dysplasia 13.4 0.020
810 CRD017 Cardiac Valvular Dysplasia, X-linked 18.9 0.020
811 P CRL001 Cerulean Cataract 24.2 0.020
812 CRN013 Craniodiaphyseal Dysplasia 28.4 0.020
813 CTR004 Cataract and Cardiomyopathy 11.5 0.020
814 CTR005 Cataract and Congenital Ichthyosis 3.0 0.020
815 CTR008 Cataract Congenital Autosomal Dominant 1.0 0.020
816 CTR010 Cataract Congenital Volkmann Type 3.6 0.020
817 CTR015 Cataract Microphthalmia Septal Defect 8.1 0.020
818 CTR016 Cataract Skeletal Anomalies 19.2 0.020
819 CTR017 Cataract, Alopecia, Sclerodactyly 5.9 0.020
820 c CTR018 Cataract, Autosomal Recessive Congenital 2 4.0 0.020
821 CTR019 Cataract, Congenital, with Microcornea or Slight Microphthalmia 5.6 0.020
822 CTR020 Cataract, Microphthalmia and Nystagmus 1.0 0.020
823 c CTR021 Cataract, Posterior Polar, 1 8.3 0.020
824 c CTR022 Cataract, Posterior Polar, 3 5.0 0.020
825 c CTR023 Cataract, Posterior Polar, 4 13.0 0.020
826 c CTR024 Cataract, Posterior Polar, 5 3.0 0.020
827 CTR025 Cataract, Total Congenital 9.0 0.020
828 CTR026 Cataract, Zonular 27.4 0.020
829 CTR029 Cataracts, Ataxia, Short Stature, and Mental Retardation 3.0 0.020
830 CTR031 Cataract, Age-related Cortical, 2 10.2 0.020
831 c CTR032 Cataract, Autosomal Recessive Congenital 1 4.0 0.020
832 c CTR033 Cataract, Autosomal Recessive Congenital 4 2.0 0.020
833 c CTR034 Cataract, Congenital Nuclear, Autosomal Recessive 2 2.0 0.020
834 P CTR035 Cataract, Congenital Nuclear, Autosomal Recessive 3 6.0 0.020
835 CTR037 Cataract, Cortical Pulverulent, Late-onset 3.0 0.020
836 CTR039 Cataracts, Autosomal Dominant 28.1 0.020
837 CTR040 Cataracts, Autosomal Recessive 12.8 0.020
838 CTR043 Cataract, Pulverulent or Cerulean, with or Without Microcornea 10.2 0.020
839 CTR044 Cataract with Late-onset Corneal Dystrophy 12.2 0.020
840 CTR045 Cataract, Cortical, Juvenile-onset 12.1 0.020
841 CTR046 Cataract, Juvenile-onset 6.0 0.020
842 CTR047 Cataract, Autosomal Dominant, Multiple Types 1 5.0 0.020
843 CTR048 Cataract, Nuclear Progressive 11.2 0.020
844 CTR049 Cataract, Nuclear Pulverulent 10.2 0.020
845 CTR051 Cataract, Marner Type 12.2 0.020
846 CTR052 Cataract, Central Saccular, with Sutural Opacities 9.2 0.020
847 c CTR053 Cataract, Cerulean, Type 1 9.1 0.020
848 CTR054 Cataract, Polymorphic and Lamellar 11.2 0.020
849 c CTR055 Cataract, Autosomal Recessive Congenital 3 9.2 0.020
850 P CTR056 Cataract, Congenital Nuclear, 1 9.2 0.020
851 CTR057 Cataract, Posterior Polar, 4, Syndromic 12.2 0.020
852 CTR059 Cataract, Autosomal Recessive, Early-onset, Pulverulent 9.2 0.020
853 CTR060 Cataract, Zonular Central Nuclear, Autosomal Dominant 10.2 0.020
854 P CTR061 Cataract, Congenital, Autosomal Recessive 11.8 0.020
855 CTR062 Cataract, Autosomal Dominant Nuclear 4.0 0.020
856 CTR063 Cataract, Congenital Zonular, with Sutural Opacities 5.0 0.020
857 CTR064 Cataract, Lamellar 2 5.0 0.020
858 CTR065 Cataract, Pulverulent 13.3 0.020
859 c CTR066 Cataract, Cerulean, Type 2 6.0 0.020
860 CTR067 Cataract, Sutural, with Punctate and Cerulean Opacities 5.0 0.020
861 CTR068 Cataract, Coppock-like 16.2 0.020
862 c CTR069 Cataract, Congenital Nuclear, 2 7.0 0.020
863 CTR070 Cataract, Variable Zonular Pulverulent 3.0 0.020
864 CTR071 Cataracts, Punctate, Progressive Juvenile-onset 3.0 0.020
865 CTR072 Cataract, Crystalline Aculeiform 5.0 0.020
866 CTR073 Cataract, Congenital, Cerulean Type, 3 5.0 0.020
867 CTR074 Cataract, Nonnuclear Polymorphic Congenital 6.0 0.020
868 CTR075 Cataract, Progressive Polymorphic Cortical 2.0 0.020
869 CTR076 Cataract, Juvenile, with Microcornea and Glucosuria 11.2 0.020
870 CTR078 Cataract, Pulverulent, Autosomal Dominant 10.2 0.020
871 CVR002 Cavernous Sinus Thrombosis 21.4 0.020
872 CWD001 Cowden Disease 67.3 0.020
873 CZC001 Czech Dysplasia Metatarsal Type 15.6 0.020
874 CZC002 Czech Dysplasia 19.7 0.020
875 DBT007 Diabetic Cataract 41.8 0.020
876 DCH001 Duchenne Muscular Dystrophy 70.4 0.020
877 P DMN001 Diamond-blackfan Anemia 64.3 0.020
878 DNC003 Dancing Eyes-dancing Feet Syndrome 13.6 0.020
879 DND001 Dandy-walker Syndrome 35.5 0.020
880 DNR001 Duane Retraction Syndrome 36.4 0.020
881 DST014 Distal Primary Acidosis, Familial 12.3 0.020
882 DVL004 Developmental Dysplasia of Hip 33.0 0.020
883 DYS024 Dyserythropoietic Anemia with Thrombocytopenia 31.3 0.020
884 DYS048 Dysplasia Epiphysealis Hemimelica 26.0 0.020
885 DYS049 Dysplastic Cortical Hyperostosis 2.0 0.020
886 DYS052 Dyssegmental Dysplasia Silverman-handmaker Type 9.3 0.020
887 DYS102 Dysplasia of Cervix 24.7 0.020
888 ENT001 Enterocele 30.4 0.020
889 EPL017 Epilepsy Multi-gene Panels 15.2 0.020
890 EPM002 Epimetaphyseal Dysplasia Cataract 11.6 0.020
891 EPP003 Epiphyseal Dysplasia 44.7 0.020
892 EPP004 Epiphyseal Dysplasia Dysmorphism Camptodactyly 2.0 0.020
893 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 2.0 0.020
894 EPP006 Epiphyseal Dysplasia Multiple with Early-onset Diabetes Mellitus 8.3 0.020
895 EPP007 Epiphyseal Dysplasia, Multiple, with Myopathy 13.3 0.020
896 EPP008 Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 15.6 0.020
897 ERL009 Early Infantile Epileptic Encephalopathy Multi-gene Panels 15.7 0.020
898 EXC003 Excessive Tearing 19.2 0.020
899 FCC001 Faciocardiomelic Dysplasia Lethal 11.6 0.020
900 P FCT013 Factor V Leiden Thrombophilia 28.0 0.020
901 FG4001 Fig4-related Amyotrophic Lateral Sclerosis 14.5 0.020
902 FLN004 Flna-related X-linked Cardiac Valvular Dysplasia 11.2 0.020
903 FML082 Familial Partial Paralysis 12.5 0.020
904 FNC001 Fanconi's Anemia 83.1 0.020
905 FRD002 Friedreich Ataxia with Retained Reflexes 10.9 0.020
906 c FRD006 Friedreich Ataxia 2 5.3 0.020
907 FRN011 Frontal Sinusitis 20.6 0.020
908 FSR003 Fus-related Amyotrophic Lateral Sclerosis 12.7 0.020
909 FX3002 Foxe3-related Cataracts, Autosomal Dominant 9.2 0.020
910 P GCH001 Gaucher's Disease 78.9 0.020
911 GNC001 Gonococcal Synovitis 25.7 0.020
912 GNT012 Gnthodiaphyseal Dysplasia 11.7 0.020
913 GNT018 Gianotti Crosti Syndrome 13.5 0.020
914 GRD005 Geroderma Osteodysplasticum 20.0 0.020
915 GRY002 Gray Platelet Syndrome 41.8 0.020
916 GT1002 Gata1-related Anemia 14.1 0.020
917 GT1003 Gata1-related Anemia with Thrombocytopenia 7.4 0.020
918 c HMG018 Hemoglobin Ss 8.8 0.020
919 HML002 Hemolytic Anemia 74.4 0.020
920 HPD001 Hip Dysplasia 34.6 0.020
921 HPT020 Hepatic Vascular Disease 16.4 0.020
922 P HRD011 Hereditary Spherocytosis 57.3 0.020
923 HRD040 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Syndrome 15.8 0.020
924 HRD052 Hereditary Mucoepithelial Dysplasia 20.2 0.020
925 HYD008 Hydrocephalus Due to Aqueductal Stenosis 12.7 0.020
926 HYD009 Hydrocephalus with Congenital Idiopathic Intestinal Pseudoobstruction 6.0 0.020
927 HYD010 Hydrocephalus with Hirschsprung Disease and Cleft Palate 5.0 0.020
928 HYD017 Hydrocephalus Autosomal Recessive 8.6 0.020
929 HYD018 Hydrocephalus Craniosynostosis Bifid Nose 2.0 0.020
930 HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 11.6 0.020
931 HYD020 Hydrocephalus Growth Retardation Skeletal Anomalies 1.0 0.020
932 HYD021 Hydrocephalus Obesity Hypogonadism 2.0 0.020
933 HYD022 Hydrocephalus Skeletal Anomalies 1.0 0.020
934 HYD023 Hydrocephalus, Costovertebral Dysplasia, and Sprengel Anomaly 3.0 0.020
935 HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 1.0 0.020
936 HYP001 Hypochromic Microcytic Anemia 33.5 0.020
937 HYP054 Hypochromic Anemia 47.5 0.020
938 IMM010 Immunodeficiency 88.7 0.020
939 IMR001 Imerslund-grasbeck Syndrome 26.8 0.020
940 INF036 Inflammatory and Toxic Neuropathy 22.7 0.020
941 KHN001 Kuhnt-junius Degeneration 31.1 0.020
942 P KLP002 Klippel-trenaunay Syndrome 42.8 0.020
943 KNS001 Kniest Dysplasia 39.1 0.020
944 KRN003 Kernicterus Due to Isoimmunization 16.5 0.020
945 KSH003 Kshv Inflammatory Cytokine Syndrome 20.1 0.020
946 LCL010 Localized Epiphyseal Dysplasia 11.6 0.020
947 LCR001 Lacrimal Duct Obstruction 26.8 0.020
948 LCT001 Lactic Acidosis 63.2 0.020
949 LGB001 Leg Absence Deformity Cataract 8.2 0.020
950 LNG008 Langer-giedion Syndrome 37.0 0.020
951 LTR002 Lateral Sinus Thrombosis 14.6 0.020
952 LTY001 Late Yaws 20.8 0.020
953 LWY001 Lewy Body Dementia 64.9 0.020
954 LYM021 Lymphadenitis 64.1 0.020
955 MCL007 Macular Dystrophy 41.0 0.020
956 MCL017 Macular Dystrophy, Atypical Vitelliform 15.3 0.020
957 MCL018 Macular Dystrophy, Concentric Annular 8.6 0.020
958 c MCL019 Macular Dystrophy, Corneal Type 1 14.4 0.020
959 MCL025 Macular Dystrophy, Autosomal Dominant, Chromosome 6-linked 16.0 0.020
960 c MCL026 Macular Dystrophy, Retinal, 3 13.3 0.020
961 MCL027 Macular Dystrophy, Dominant Cystoid 13.7 0.020
962 MCL029 Macular Degeneration, X-linked Atrophic 14.1 0.020
963 MCL030 Macular Degeneration, Age-related, 10 14.9 0.020
964 MCL032 Macular Degeneration, Age-related, 11 16.2 0.020
965 MCL033 Macular Degeneration, Age-related, Reduced Risk of 19.4 0.020
966 MCL034 Macular Dystrophy, Patterned 16.7 0.020
967 P MCL035 Macular Dystrophy, Retinal, 2 17.1 0.020
968 MCP016 Mecp2 Duplication Syndrome 17.3 0.020
969 MCR017 Macrocytic Anemia 44.4 0.020
970 MCR023 Microcoria 16.0 0.020
971 MCR036 Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance 14.1 0.020
972 MCR067 Microcoria, Congenital 9.9 0.020
973 P MCR076 Microphthalmia Cataract 17.7 0.020
974 MCR093 Microtia-anotia 7.2 0.020
975 P MGL001 Megaloblastic Anemia 55.2 0.020
976 MGL015 Megalocornea, X-linked 4.6 0.020
977 c MGR026 Migraine 8 6.7 0.020
978 MLG026 Male Genital Organ Vascular Disease 11.6 0.020
979 MLT007 Multiple Epiphyseal Dysplasia 61.2 0.020
980 MLT024 Multiple Endocrine Neoplasia Iia 12.2 0.020
981 MLT025 Multiple Endocrine Neoplasia Iib 6.0 0.020
982 MND005 Mondini Dysplasia 17.6 0.020
983 MRG001 Morgagni Cataract 17.2 0.020
984 MSC008 Muscle-eye-brain Disease 38.4 0.020
985 MST006 Mast Syndrome 21.1 0.020
986 MTR030 Mitral Valve Prolapse, Familial, X-linked 10.9 0.020
987 MTT002 Metatropic Dysplasia 21.7 0.020
988 MYL002 Myelophthisic Anemia 24.3 0.020
989 MYP023 Myopia, Autosomal 9.7 0.020
990 MYP024 Myopia, X-linked 5.0 0.020
991 c MYP040 Myopia 7 3.0 0.020
992 c MYP041 Myopia 8 9.1 0.020
993 c MYP043 Myopia 15 15.2 0.020
994 c MYP044 Myopia 10 3.0 0.020
995 c MYP045 Myopia 12 8.9 0.020
996 c MYP046 Myopia 13 2.0 0.020
997 c MYP047 Myopia-1 2.0 0.020
998 c MYP048 Myopia 9 2.0 0.020
999 c MYP049 Myopia 5 2.0 0.020
1000 c MYP050 Myopia-3 2.0 0.020
1001 c MYP051 Myopia-2 14.0 0.020
1002 c MYP052 Myopia 16 2.0 0.020
1003 c MYP053 Myopia 11 11.8 0.020
1004 NCR006 Necrosis of Ear Ossicle 15.0 0.020
1005 NNC002 Nance-horan Syndrome 25.4 0.020
1006 NNT011 Neonatal Anemia 31.4 0.020
1007 NNT024 Neonatal Stroke 36.0 0.020
1008 NRN007 Neuronal Interstitial Dysplasia 11.6 0.020
1009 NRT005 North Carolina Macular Dystrophy 23.3 0.020
1010 OCC002 Occult Macular Dystrophy 24.0 0.020
1011 OCC004 Occlusion of Gallbladder 15.6 0.020
1012 OCH002 Ochoa Syndrome 28.7 0.020
1013 OCL013 Oculodentodigital Dysplasia 35.0 0.020
1014 ODN004 Odonto Onycho Dysplasia with Alopecia 11.6 0.020
1015 OPT018 Opthalmomandibulomelic Dysplasia 11.6 0.020
1016 OPT036 Optn-related Amyotrophic Lateral Sclerosis 15.9 0.020
1017 ORC001 Orchitis 53.8 0.020
1018 P ORL008 Oral-facial-digital Syndrome 24.0 0.020
1019 OSS003 Osseous Dysplasia 29.7 0.020
1020 OSS008 Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula 12.7 0.020
1021 OST024 Osteoporosis-pseudoglioma Syndrome 36.2 0.020
1022 OST044 Osteoglophonic Dysplasia 44.9 0.020
1023 OTS002 Otospondylomegaepiphyseal Dysplasia 40.0 0.020
1024 PFN001 Pfn1-related Amyotrophic Lateral Sclerosis 12.7 0.020
1025 PHL006 Phelan-mcdermid Syndrome 23.0 0.020
1026 PLD001 Pilo Dento Ungular Dysplasia Microcephaly 12.7 0.020
1027 PLD002 Pilodental Dysplasia with Refractive Errors 12.5 0.020
1028 PLV006 Pelvic Dysplasia Arthrogryposis of Lower Limbs 13.2 0.020
1029 PLY039 Polymorphic Reticulosis 11.5 0.020
1030 PLZ001 Pelizaeus-merzbacher Disease 55.5 0.020
1031 PNT009 Pontine Tegmental Cap Dysplasia 17.4 0.020
1032 PRD010 Por Deficiency 24.9 0.020
1033 PRK003 Parkes Weber Syndrome 14.4 0.020
1034 PRK016 Parkes Weber Syndrome, Rasa1-related 5.6 0.020
1035 PRM041 Primary Cortisol Resistance 13.7 0.020
1036 PRN011 Pernicious Anemia 44.1 0.020
1037 PRT001 Partial Fetal Alcohol Syndrome 28.3 0.020
1038 PRT007 Partial of Retinal Vein Occlusion 15.7 0.020
1039 PRT025 Protein-deficiency Anemia 20.1 0.020
1040 PRT047 Partial Agenesis of Corpus Callosum 21.5 0.020
1041 PRT048 Partial Atrioventricular Canal 6.0 0.020
1042 PRT049 Partial Deletion of Y 8.3 0.020
1043 PRT055 Prieto X-linked Mental Retardation Syndrome 13.4 0.020
1044 PRX020 Proximal Renal Tubular Acidosis with Ocular Abnormalities 19.4 0.020
1045 PSD030 Pseudodiastrophic Dysplasia 15.6 0.020
1046 P PST016 Posterior Polar Cataract 27.2 0.020
1047 c PST051 Posterior Polar Cataract 2 10.2 0.020
1048 PTR005 Peters Anomaly 40.2 0.020
1049 PTT015 Patterned Dystrophy of Retinal Pigment Epithelium 20.8 0.020
1050 PYR007 Pyridoxine-refractory Autosomal Recessive Sideroblastic Anemia 24.6 0.020
1051 P RBN001 Rubinstein-taybi Syndrome 55.3 0.020
1052 RDD001 Radio-digito-facial Dysplasia 12.6 0.020
1053 RHZ006 Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 11.6 0.020
1054 RNL022 Renal Vascular Disease 37.7 0.020
1055 RNL024 Renal Glucosuria 35.0 0.020
1056 RNL026 Renal Tubular Acidosis with Deafness 16.2 0.020
1057 RNL027 Renal Tubular Acidosis-osteopetrosis Syndrome 6.0 0.020
1058 RNL035 Renal Dysplasia Diffuse Autosomal Recessive 11.6 0.020
1059 RNL036 Renal Dysplasia Diffuse Cystic 3.0 0.020
1060 RNL037 Renal Dysplasia Megalocystis Sirenomelia 1.0 0.020
1061 RNL038 Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia and Skeletal Dysplasia 4.3 0.020
1062 RNL044 Renal Tubular Acidosis Progressive Nerve Deafness 11.4 0.020
1063 P RNL045 Renal Tubular Acidosis, Distal 27.9 0.020
1064 RNL047 Renal Tubular Acidosis, Distal, Autosomal Recessive 31.2 0.020
1065 c RNL048 Renal Tubular Acidosis, Distal, Type 3 8.0 0.020
1066 c RNL049 Renal Tubular Acidosis, Distal, Type 4 5.0 0.020
1067 RNL054 Renal Tubular Acidosis, Distal, with Hemolytic Anemia 15.1 0.020
1068 P RNL066 Renal Tubular Acidosis, Distal, Ad 15.1 0.020
1069 c RNL067 Renal Tubular Acidosis, Distal, Ar 10.0 0.020
1070 RPL001 Rpl11-related Diamond-blackfan Anemia 18.2 0.020
1071 RPL002 Rpl35a-related Diamond-blackfan Anemia 9.8 0.020
1072 RPL003 Rpl5-related Diamond-blackfan Anemia 10.4 0.020
1073 RPS003 Rps10-related Diamond-blackfan Anemia 11.4 0.020
1074 RPS004 Rps17-related Diamond-blackfan Anemia 8.8 0.020
1075 RPS005 Rps19-related Diamond-blackfan Anemia 10.1 0.020
1076 RPS006 Rps24-related Diamond-blackfan Anemia 7.4 0.020
1077 RPS007 Rps26-related Diamond-blackfan Anemia 9.4 0.020
1078 RPS008 Rps7-related Diamond-blackfan Anemia 8.8 0.020
1079 RSM001 Rasmussen Encephalitis 43.1 0.020
1080 RTH001 Rothmund-thomson Syndrome 49.3 0.020
1081 RTN038 Retinal Dysplasia X-linked 11.4 0.020
1082 RTT002 Rett Syndrome 67.8 0.020
1083 SCK005 Sickle Cell Disease 74.2 0.020
1084 SCN013 Scn1a-related Intractable Infantile Partial Seizures 11.3 0.020
1085 SDR003 Sideroblastic Anemia 55.8 0.020
1086 SGT001 Sagittal Sinus Thrombosis 39.1 0.020
1087 SHR017 Short Stature Dysmorphic Face Pelvic Scapula Dysplasia 11.5 0.020
1088 c SHR029 Short Syndrome 23.6 0.020
1089 SNL007 Senile Cataract 46.8 0.020
1090 P SNR001 Senior-loken Syndrome 43.9 0.020
1091 SNR008 Senior-loken Syndrome Multi-gene Panels 15.5 0.020
1092 SNR010 Senior-løken Syndrome 15.9 0.020
1093 SNS014 Sinusitis 74.4 0.020
1094 SPN010 Sponastrime Dysplasia 38.7 0.020
1095 P SPN016 Spondylocostal Dysostosis 46.1 0.020
1096 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 17.5 0.020
1097 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 21.6 0.020
1098 SPN081 Spondylocostal Dysostosis, Autosomal Recessive 27.0 0.020
1099 P SPN108 Spinocerebellar Ataxia Autosomal Recessive 1 16.4 0.020
1100 c SPN109 Spinocerebellar Ataxia Autosomal Recessive 3 6.6 0.020
1101 c SPN110 Spinocerebellar Ataxia Autosomal Recessive 4 5.8 0.020
1102 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 8.6 0.020
1103 c SPN112 Spinocerebellar Ataxia Autosomal Recessive 6 14.4 0.020
1104 SPN126 Spondyloepimetaphyseal Dysplasia Genevieve Type 12.4 0.020
1105 SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 6.6 0.020
1106 SPN128 Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 2.6 0.020
1107 SPN129 Spondyloepimetaphyseal Dysplasia Micromelic 2.0 0.020
1108 SPN130 Spondyloepimetaphyseal Dysplasia Shohat Type 2.0 0.020
1109 SPN131 Spondyloepimetaphyseal Dysplasia Sponastrime Type 3.0 0.020
1110 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 2.6 0.020
1111 SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 2.6 0.020
1112 SPN134 Spondyloepimetaphyseal Dysplasia X-linked 3.0 0.020
1113 SPN135 Spondyloepimetaphyseal Dysplasia X-linked with Mental Deterioration 2.0 0.020
1114 SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 6.0 0.020
1115 SPN143 Spondylometaepiphyseal Dysplasia Short Limb-hand Type 19.6 0.020
1116 c SPN177 Spinocerebellar Ataxia, Autosomal Recessive, 10 15.6 0.020
1117 c SPN178 Spinocerebellar Ataxia, Autosomal Recessive, 9 7.6 0.020
1118 SPR013 Spiradenoma 34.6 0.020
1119 c SPS012 Spastic Paraplegia 3a 28.4 0.020
1120 c SPS013 Spastic Paraplegia 8 12.9 0.020
1121 c SPS014 Spastic Paraplegia Type 4 15.1 0.020
1122 c SPS015 Spastic Paraplegia Type 11 15.1 0.020
1123 c SPS020 Spastic Paraplegia 1 15.2 0.020
1124 c SPS021 Spastic Paraplegia 10 9.3 0.020
1125 c SPS023 Spastic Paraplegia 13 8.6 0.020
1126 c SPS027 Spastic Paraplegia 17 13.1 0.020
1127 c SPS037 Spastic Paraplegia 31 17.5 0.020
1128 c SPS041 Spastic Paraplegia 6 19.8 0.020
1129 c SPS053 Spastic Paraplegia 33 16.5 0.020
1130 SPS057 Spasticity 64.4 0.020
1131 STF001 Stiff-person Syndrome 53.3 0.020
1132 STR027 Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 12.5 0.020
1133 STR031 Sternal Malformation Vascular Dysplasia Associatio 11.6 0.020
1134 c STR040 Stargardt Disease 3 22.6 0.020
1135 STR041 Stargardt Disease Multi-gene Panels 10.9 0.020
1136 STR042 Stargardt Disease, Autosomal Recessive 22.7 0.020
1137 STX001 Setx-related Amyotrophic Lateral Sclerosis 16.2 0.020
1138 P SYN015 Syndactyly Cataract Mental Retardation 8.2 0.020
1139 THM002 Thiamine-responsive Megaloblastic Anemia Syndrome 45.3 0.020
1140 THR005 Thrombotic Thrombocytopenic Purpura 70.3 0.020
1141 THR062 Thrombosis, Hyperhomocysteinemic 20.4 0.020
1142 THY020 Thyroid Hyalinizing Trabecular Adenoma 12.8 0.020
1143 P TRC011 Treacher Collins Syndrome 53.0 0.020
1144 c TRC058 Trichorhinophalangeal Syndrome Type 2 20.0 0.020
1145 TRC064 Trochlear Dysplasia 12.6 0.020
1146 TRD001 Tardbp-related Amyotrophic Lateral Sclerosis 16.7 0.020
1147 TRM011 Terminal Osseous Dysplasia 20.5 0.020
1148 P TRS008 Trisomy 11 Mosaicism 9.3 0.020
1149 c TRS009 Trisomy 12 Mosaicism 2.0 0.020
1150 c TRS011 Trisomy 2 Mosaicism 3.0 0.020
1151 TRS012 Trisomy 22 16.4 0.020
1152 c TRS013 Trisomy 3 Mosaicism 2.0 0.020
1153 TRY002 Troyer Syndrome 36.2 0.020
1154 TTR001 Tetralogy of Fallot 62.2 0.020
1155 ULC001 Ulceration of Vulva 15.3 0.020
1156 ULC002 Ulcer of Anus and Rectum 14.5 0.020
1157 ULC005 Ulcer of Lower Limbs 21.0 0.020
1158 UMB001 Umbilical Cord Ulceration and Intestinal Atresia 13.6 0.020
1159 URT036 Urethral Obstruction 21.0 0.020
1160 VPB001 Vapb-related Amyotrophic Lateral Sclerosis 14.5 0.020
1161 VSC010 Vascular Tissue Disease 2.0 0.020
1162 WGN001 Wagenmann-froboese Syndrome 14.7 0.020
1163 WLF002 Wolf-hirschhorn Syndrome 42.1 0.020
1164 WLK001 Walker-warburg Syndrome 50.9 0.020
1165 WLL002 Weill-marchesani Syndrome 42.2 0.020
1166 XLN002 X-linked Hypophosphatemia 47.3 0.020
1167 XLN003 X-linked Sideroblastic Anemia with Ataxia 36.1 0.020
1168 XLN006 X-linked Sideroblastic Anemia 51.5 0.020
1169 XLN017 X-linked Spondyloepiphyseal Dysplasia Tarda 30.8 0.020
1170 XLN034 X-linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius 10.2 0.020
1171 c XLN041 X-linked Mental Retardation 19 4.6 0.020
1172 c XLN046 X-linked Mental Retardation 46 3.6 0.020
1173 P ZNL001 Zonular Pulverulent Cataract 1 12.8 0.020
1174 c ZNL002 Zonular Pulverulent Cataract 3 6.6 0.020
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