Eye Diseases Category (3773 diseases)


Including: vision, eye, retinal, optic
See other categories (disease lists)

# Family MCID Name MIFTS
1 LBR031 Leber Optic Atrophy and Dystonia 40
2 RTN179 Retinal Arteries, Tortuosity of 44
3 c SKN065 Skin/hair/eye Pigmentation, Variation in, 1 27
4 SCH038 Schopf-Schulz-Passarge Syndrome 51
5 BHR001 Behr Syndrome 41
6 P RTN034 Retinal Cone Dystrophy 3a 32
7 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 43
8 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 41
9 c OPT053 Optic Atrophy 1 54
10 c OPT068 Optic Atrophy 3, Autosomal Dominant 50
11 c OPT024 Optic Atrophy 5 33
12 c SKN071 Skin/hair/eye Pigmentation, Variation in, 9 13
13 DYN002 Doyne Honeycomb Retinal Dystrophy 46
14 OPT001 Optic Disk Drusen 36
15 OPT079 Optic Atrophy 13 with Retinal and Foveal Abnormalities 21
16 P EYD002 Eye Disease 59
17 OCL011 Ocular Motility Disease 45
18 c OPT065 Optic Atrophy 9 38
19 c RTN131 Retinitis Pigmentosa 27 35
20 BRN026 Branch Retinal Artery Occlusion 40
21 HYP742 Hyperpigmentation of Eyelids 13
22 c STR084 Stargardt Disease 1 55
23 RTN020 Retinal Vascular Disease 45
24 c CNR014 Cone-Rod Dystrophy 16 44
25 c LBR009 Leber Congenital Amaurosis 14 43
26 c ACQ001 Acquired Color Blindness 31
27 c OPT080 Optic Atrophy 12 25
28 EYL006 Eyelid Benign Neoplasm 23
29 OPT005 Optic Nerve Astrocytoma 22
30 APH013 Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome 14
31 PRT027 Partial Arterial Retinal Occlusion 9
32 DRY001 Dry Eye Syndrome 52
33 RMS001 Rem Sleep Behavior Disorder 46
34 c OPT064 Optic Atrophy 11 41
35 PRR004 Preretinal Fibrosis 40
36 VSL013 Visual Impairment and Progressive Phthisis Bulbi 39
37 ACT022 Acute Retinal Necrosis Syndrome 38
38 RTN212 Retinal Dystrophy with or Without Macular Staphyloma 28
39 SHR097 Short Tarsus with Absence of Lower Eyelashes 27
40 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy 23
41 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 16
42 P CLB034 Coloboma, Ocular, Autosomal Dominant 53
43 P RTN016 Retinal Degeneration 52
44 c CNR007 Cone-Rod Dystrophy 6 52
45 AMB002 Amblyopia 51
46 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 50
47 c CND011 Cone Dystrophy 3 36
48 OPT032 Optic Pathway Glioma 34
49 BRK005 Berk-Tabatznik Syndrome 7
50 CLB012 Coloboma of Optic Papilla 6
51 c LBR004 Leber Congenital Amaurosis 1 56
52 FND002 Fundus Dystrophy 55
53 MCL006 Macular Retinal Edema 54
54 P CND005 Cone Dystrophy 47
55 VSL002 Visual Epilepsy 47
56 c RTN042 Retinitis Pigmentosa 12 46
57 P SPS008 Spastic Ataxia 45
58 c CNR005 Cone-Rod Dystrophy 3 42
59 c CNR006 Cone-Rod Dystrophy 5 40
60 c MCL059 Macular Dystrophy, Patterned, 1 38
61 TRC077 Trichomegaly 37
62 VSL003 Visual Agnosia 36
63 c RTN032 Retinal Cone Dystrophy 1 33
64 c SPS025 Spastic Paraplegia 15 32
65 RTN011 Retina Lymphoma 32
66 c SPS212 Spastic Ataxia 5, Autosomal Recessive 31
67 OPT002 Optic Nerve Sheath Meningioma 30
68 c RTN067 Retinitis Pigmentosa 41 30
69 c SPS072 Spastic Ataxia 1, Autosomal Dominant 30
70 c SPS142 Spastic Ataxia 2, Autosomal Recessive 30
71 c SPS170 Spastic Ataxia 2 29
72 RTN010 Retinal Melanoma 27
73 c SPS208 Spastic Ataxia 4, Autosomal Recessive 27
74 c SPS136 Spastic Ataxia 3, Autosomal Recessive 27
75 c SPS171 Spastic Ataxia 5 27
76 c SPS214 Spastic Ataxia 4 24
77 c SPS163 Spastic Ataxia 3 22
78 c ATS438 Autosomal Recessive Spastic Ataxia 22
79 c SPS233 Spastic Ataxia 9, Autosomal Recessive 22
80 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
81 CBB001 Cobblestone Retinal Degeneration 20
82 LBR039 Leber Hereditary Optic Neuropathy, Autosomal Recessive 19
83 RTN005 Retinal Lattice Degeneration 18
84 c SPS229 Spastic Ataxia 8 18
85 c SPS162 Spastic Ataxia 1 17
86 c SKN069 Skin/hair/eye Pigmentation, Variation in, 7 14
87 CHL024 Childhood Optic Nerve Glioma 11
88 TRN010 Transient Retinal Arterial Occlusion 11
89 c ATS437 Autosomal Dominant Spastic Ataxia 9
90 HLR003 Hole Retinal Cyst 7
91 PRT007 Partial of Retinal Vein Occlusion 7
92 GLC005 Glaucomatous Atrophy of Optic Disc 6
93 VNS001 Venous Tributary Occlusion of Retina 6
94 c SPS172 Spastic Ataxia 7 5
95 CHL023 Childhood Optic Tract Astrocytoma 5
96 P VTL001 Vitelliform Macular Dystrophy 47
97 c RTN058 Retinitis Pigmentosa 3 45
98 OCL086 Ocular Pigment Dispersion with or Without Glaucoma 43
99 RTN231 Retinal Dystrophy with Leukodystrophy 38
100 P CNR031 Cone-Rod Dystrophy, X-Linked, 1 38
101 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 34
102 c CNR039 Cone-Rod Dystrophy, X-Linked, 2 29
103 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 29
104 RTN229 Retinitis Pigmentosa 87 with Choroidal Involvement 24
105 RTN191 Retinal Dystrophy with or Without Extraocular Anomalies 19
106 EXF001 Exfoliation Syndrome 56
107 c LBR012 Leber Congenital Amaurosis 2 53
108 HYP748 Hypertelorism 50
109 PPL021 Papilledema 50
110 c RTN036 Retinal Cone Dystrophy 4 48
111 c MCR124 Microphthalmia, Isolated 1 46
112 OPT010 Optic Papillitis 40
113 c RTN230 Retinitis Pigmentosa 88 39
114 c CNR003 Cone-Rod Dystrophy 1 38
115 c KNB006 Knobloch Syndrome 1 37
116 c MCR211 Microphthalmia, Isolated 6 37
117 c RTN130 Retinitis Pigmentosa 46 37
118 c RTN217 Retinitis Pigmentosa 83 34
119 c RNG029 Ring Chromosome 14 Syndrome 34
120 c ISL165 Isolated Microphthalmia 3 34
121 c RNG008 Ring Chromosome 13 33
122 c RNG023 Ring Chromosome 7 33
123 c RTN227 Retinitis Pigmentosa 86 32
124 c RNG018 Ring Chromosome 22 32
125 c CND012 Cone Dystrophy 4 31
126 c RNG017 Ring Chromosome 21 31
127 c RNG004 Ring Chromosome 1 30
128 c RNG022 Ring Chromosome 6 29
129 c RNG007 Ring Chromosome 12 29
130 c RNG020 Ring Chromosome 4 28
131 c RNG024 Ring Chromosome 8 28
132 c RNG005 Ring Chromosome 10 28
133 P RNG032 Ring Chromosome 27
134 c RNG013 Ring Chromosome 18 26
135 c OPT025 Optic Atrophy 6 26
136 c OPT060 Optic Atrophy 8 25
137 RTN173 Retinal Dystrophy and Obesity 25
138 c RNG010 Ring Chromosome 15 25
139 c RNG016 Ring Chromosome 20 25
140 c RNG006 Ring Chromosome 11 24
141 c RNG015 Ring Chromosome 2 23
142 P ISL020 Isolated Microphthalmia 23
143 c RNG019 Ring Chromosome 3 23
144 c RNG025 Ring Chromosome 9 22
145 c RNG021 Ring Chromosome 5 22
146 ACT201 Acute Posterior Multifocal Placoid Pigment Epitheliopathy 21
147 c OPT059 Optic Atrophy 4 20
148 c RNG011 Ring Chromosome 16 19
149 c RNG014 Ring Chromosome 19 19
150 c RNG031 Ring Chromosome Y Syndrome 18
151 GRP007 Grouped Pigmentation of the Retina 17
152 c CNT016 Central Retinal Vein Occlusion 57
153 P RTN022 Retinal Vein Occlusion 53
154 c ACH020 Achromatopsia 2 52
155 c NGH026 Night Blindness, Congenital Stationary, Type 1a 51
156 c LBR008 Leber Congenital Amaurosis 13 48
157 KHN001 Kuhnt-Junius Degeneration 47
158 c SPN283 Spinocerebellar Ataxia 37 44
159 ACT011 Acute Contagious Conjunctivitis 42
160 c MCL038 Macular Degeneration, Age-Related, 4 39
161 CNR033 Cone-Rod Synaptic Disorder, Congenital Nonprogressive 38
162 c RTN070 Retinitis Pigmentosa 9 38
163 c CNR038 Cone-Rod Dystrophy, X-Linked, 3 36
164 c NGH029 Night Blindness, Congenital Stationary, Type 1e 36
165 c RTN150 Retinitis Pigmentosa 10 35
166 c GLC041 Glaucoma 1, Open Angle, a 34
167 c RTN140 Retinitis Pigmentosa 67 31
168 RTN013 Retinal Hemangioblastoma 31
169 P NYS017 Nystagmus 1, Congenital, X-Linked 31
170 c FVL006 Foveal Hypoplasia 1 31
171 c RTN057 Retinitis Pigmentosa 29 30
172 RFR017 Refractive Amblyopia 27
173 c RTN068 Retinitis Pigmentosa 6 26
174 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 26
175 c RTN053 Retinitis Pigmentosa 24 25
176 XLN012 X-Linked Congenital Stationary Night Blindness 24
177 c RTN051 Retinitis Pigmentosa 22 24
178 PSD005 Pseudoretinitis Pigmentosa 24
179 c GLC079 Glaucoma 1, Open Angle, P 23
180 c CNR032 Cone-Rod Dystrophy 21 23
181 c RTN148 Retinitis Pigmentosa 63 22
182 c MYP168 Myopia 27, Autosomal Dominant 21
183 NGH031 Night Blindness, Congenital Stationary, Type1i 21
184 ULR001 Ulerythema Ophryogenesis 20
185 c RTN063 Retinitis Pigmentosa 34 19
186 BLN017 Balint Syndrome 18
187 c RTN206 Retinitis Pigmentosa, Late-Adult Onset 18
188 c GLC101 Glaucoma 1, Open Angle, B 17
189 c GLC051 Glaucoma 1, Open Angle, M 17
190 c GLC099 Glaucoma 1, Primary Open Angle, C 17
191 c GLC100 Glaucoma 1, Open Angle, D 17
192 c NNS043 Nonsyndromic Retinitis Pigmentosa 16
193 c SKN060 Skin/hair/eye Pigmentation, Variation in, 11 15
194 BLS004 Blessig's Cysts 15
195 c GLC048 Glaucoma 1, Open Angle, I 14
196 c GLC076 Glaucoma 1, Open Angle, H 14
197 c GLC103 Glaucoma 1, Open Angle, K 13
198 SJG009 Sjogren-Larsson-Like Ichthyosis Without Cns or Eye Involvement 13
199 c GLC102 Glaucoma 1, Open Angle, J 11
200 c GLC080 Glaucoma 1, Open Angle, N 11
201 c RTN223 Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene 10
202 OCL031 Oculo-Cerebral Dysplasia 9
203 ANT020 Anterior Optic Tract Meningioma 6
204 SNL002 Senile Reticular Retinal Degeneration 6
205 CYS012 Cystoid Macular Retinal Degeneration 6
206 PRM009 Primary Eye Hypotony 5
207 CRT010 Crater-Like Holes of Optic Disc 4
208 RTN009 Retinal Dystrophies Primarily Involving Bruch's Membrane 4
209 P ANR048 Aniridia 1 62
210 c SPN309 Spinocerebellar Ataxia 6 60
211 3MC001 3mc Syndrome 2 49
212 c LBR018 Leber Congenital Amaurosis 8 49
213 c RTN041 Retinitis Pigmentosa 11 48
214 ALB002 Albinism 47
215 RFR003 Refractive Error 47
216 c ACH021 Achromatopsia 3 47
217 c LBR016 Leber Congenital Amaurosis 6 47
218 c RTN069 Retinitis Pigmentosa 7 46
219 OCL052 Ocular Dominance 39
220 c MCL043 Macular Degeneration, Age-Related, 2 39
221 PST036 Posterior Column Ataxia with Retinitis Pigmentosa 38
222 c DNR003 Duane Retraction Syndrome 1 38
223 HYD007 Hydrophthalmos 37
224 c RTN046 Retinitis Pigmentosa 17 36
225 c OGC002 Oguchi Disease 2 35
226 c OGC001 Oguchi Disease 1 35
227 c RTN166 Retinitis Pigmentosa 69 35
228 c NGH024 Night Blindness, Congenital Stationary, Type 1h 34
229 AMR003 Amaurosis Fugax 34
230 FML286 Familial Isolated Trichomegaly 34
231 c RTN234 Retinitis Pigmentosa 90 32
232 ABS022 Absolute Glaucoma 31
233 c RTN116 Retinitis Pigmentosa 56 31
234 c PHL010 Peho-Like Syndrome 30
235 c MCL052 Macular Degeneration, Age-Related, 13 30
236 c MYP018 Myopia 6 29
237 MCL057 Macular Dystrophy with Central Cone Involvement 28
238 c ANR047 Aniridia 2 28
239 OCL025 Ocular Toxoplasmosis 27
240 CHR393 Chromosome 19p13.13 Deletion Syndrome 27
241 c MCR349 Microphthalmia, Isolated, with Coloboma 3 26
242 NRD120 Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 24
243 c MCL061 Macular Dystrophy, Vitelliform, 4 24
244 MCR330 Microphthalmia, Isolated, with Cataract 1 23
245 P MCL058 Macular Degeneration, Early-Onset 23
246 c MCL056 Macular Dystrophy, Vitelliform, 5 22
247 NTR002 Nutritional Optic Neuropathy 22
248 EYC003 Eye Accommodation Disease 21
249 RTN236 Retinal Dystrophy and Microvillus Inclusion Disease 21
250 c MYP070 Myopia 21, Autosomal Dominant 20
251 c MYP074 Myopia 23, Autosomal Recessive 20
252 c CNR042 Cone-Rod Dystrophy 22 20
253 c MYP090 Myopia 24, Autosomal Dominant 19
254 c MYP117 Myopia 25, Autosomal Dominant 19
255 MCL018 Macular Dystrophy, Concentric Annular 19
256 c RTN238 Retinitis Pigmentosa 92 19
257 c MYP075 Myopia 22, Autosomal Dominant 18
258 c PX6002 Pax6-Related Aniridia 14
259 CHR720 Chromosome 16q12 Duplication Syndrome 12
260 RTN203 Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole 10
261 HRD179 Hair Defect-Photosensitivity-Intellectual Disability Syndrome 7
262 WLK002 Walker Dyson Syndrome 6
263 INT303 Intracranial Hypertension, Idiopathic 57
264 c LTH007 Lethal Congenital Contracture Syndrome 1 53
265 RTN003 Retinal Ischemia 48
266 c LBR005 Leber Congenital Amaurosis 10 47
267 GRV014 Graves Ophthalmopathy 47
268 c LBR019 Leber Congenital Amaurosis 9 47
269 c RTN162 Retinitis Pigmentosa 2 47
270 P SDR002 Siderosis 45
271 BSL037 Basal Laminar Drusen 44
272 P HRN001 Horner's Syndrome 44
273 c LBR007 Leber Congenital Amaurosis 12 44
274 c LBR017 Leber Congenital Amaurosis 7 41
275 c GLC114 Glaucoma, Primary Closed-Angle 40
276 P LTH003 Lethal Congenital Contracture Syndrome 39
277 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 39
278 c LBR006 Leber Congenital Amaurosis 11 39
279 c LTH008 Lethal Congenital Contracture Syndrome 2 38
280 c LTH026 Lethal Congenital Contracture Syndrome 4 36
281 c CRN306 Corneal Dystrophy, Posterior Polymorphous, 4 33
282 LWR019 Lowry-Wood Syndrome 33
283 P ACT028 Acute Closed-Angle Glaucoma 32
284 JVN026 Jeavons Syndrome 32
285 c CTR187 Cataract 48 32
286 ACN019 Acanthamoeba Keratitis 31
287 c NGH028 Night Blindness, Congenital Stationary, Type 1d 31
288 c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 30
289 c CLB022 Coloboma, Ocular, Autosomal Recessive 29
290 c ATM100 Autoimmune Optic Neuritis 29
291 c LTH047 Lethal Congenital Contracture Syndrome 3 28
292 c DNR004 Duane Retraction Syndrome 2 28
293 c RTN219 Retinitis Pigmentosa 85 27
294 c STR054 Stargardt Disease 4 27
295 KRT074 Keratoendotheliitis Fugax Hereditaria 26
296 c LTH029 Lethal Congenital Contracture Syndrome 9 26
297 c LTH042 Lethal Congenital Contracture Syndrome 10 25
298 c LTH032 Lethal Congenital Contracture Syndrome 7 25
299 c LTH027 Lethal Congenital Contracture Syndrome 5 25
300 c LTH039 Lethal Congenital Contracture Syndrome 11 25
301 c MCL039 Macular Degeneration, Age-Related, 8 25
302 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 25
303 c LTH030 Lethal Congenital Contracture Syndrome 8 24
304 EPL011 Epilepsy, Benign Occipital 24
305 c CTR136 Cataract 41 23
306 INT012 Interval Angle-Closure Glaucoma 23
307 c HRN024 Horner Syndrome, Congenital 22
308 c LTH031 Lethal Congenital Contracture Syndrome 6 22
309 HYP046 Hypopigmentation of Eyelid 21
310 NRD170 Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment 20
311 MYP135 Myopia 26, X-Linked, Female-Limited 20
312 RB1001 Rab18 Deficiency 20
313 c LBR034 Leber Congenital Amaurosis 19 20
314 c MYP169 Myopia 28, Autosomal Recessive 20
315 c RTN239 Retinitis Pigmentosa 93 19
316 SRD002 Srd5a3-Congenital Disorder of Glycosylation 19
317 P PTT054 Patterned Macular Dystrophy 19
318 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 15
319 c MCL080 Macular Dystrophy, Retinal, 4 14
320 ECT009 Ectopia Pupillae 14
321 MCR357 Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome 12
322 c SDR001 Siderosis of Eye 7
323 CLB023 Coloboma of Inferior Eyelid 6
324 CLB024 Coloboma of Superior Eyelid 6
325 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 6
326 TTT001 Tatton-Brown-Rahman Syndrome 73
327 c PRX045 Peroxisome Biogenesis Disorder 1b 65
328 P ENC018 Encephalopathy 64
329 P LBR014 Leber Congenital Amaurosis 4 61
330 c FRS014 Fraser Syndrome 1 61
331 c PRX059 Peroxisome Biogenesis Disorder 1a 59
332 c ANT077 Anterior Segment Dysgenesis 1 52
333 c SPN106 Spinocerebellar Ataxia 5 52
334 CHR078 Chorioretinitis 50
335 CYT005 Cytomegalovirus Retinitis 49
336 c LBR013 Leber Congenital Amaurosis 3 48
337 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
338 c RTN172 Retinitis Pigmentosa 1 47
339 c CTR103 Cataract 4, Multiple Types 47
340 c CTR098 Cataract 1, Multiple Types 47
341 c RTN141 Retinitis Pigmentosa 39 46
342 c ANT071 Anterior Segment Dysgenesis 4 46
343 IRT001 Iritis 45
344 c RTN054 Retinitis Pigmentosa 25 45
345 c RTN055 Retinitis Pigmentosa 26 45
346 c RTN043 Retinitis Pigmentosa 13 44
347 c CTR182 Cataract 23, Multiple Types 44
348 c CTR096 Cataract 6, Multiple Types 44
349 c RTN044 Retinitis Pigmentosa 14 43
350 c RTN066 Retinitis Pigmentosa 4 43
351 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 43
352 CRB016 Carbuncle 42
353 c GLC078 Glaucoma 1, Open Angle, F 42
354 c RTN159 Retinitis Pigmentosa 45 42
355 c FRS016 Fraser Syndrome 2 42
356 c CNR024 Cone-Rod Dystrophy 13 42
357 c RTN157 Retinitis Pigmentosa 37 41
358 c LBR010 Leber Congenital Amaurosis 15 41
359 c RTN177 Retinitis Pigmentosa 73 41
360 c RTN050 Retinitis Pigmentosa 20 41
361 c RTN142 Retinitis Pigmentosa 38 41
362 c RTN062 Retinitis Pigmentosa 33 41
363 c RTN047 Retinitis Pigmentosa 18 41
364 c MCL078 Macular Degeneration, Age-Related, 14 40
365 c RTN090 Retinitis Pigmentosa 55 40
366 c RTN171 Retinitis Pigmentosa 59 40
367 c CTR118 Cataract 14, Multiple Types 40
368 c SPN099 Spinocerebellar Ataxia 26 40
369 c EXD004 Exudative Vitreoretinopathy 4 40
370 c RTN085 Retinitis Pigmentosa 54 40
371 c ACH038 Achromatopsia 7 40
372 c CNR017 Cone-Rod Dystrophy 9 39
373 c PRX054 Peroxisome Biogenesis Disorder 12a 39
374 c PRX055 Peroxisome Biogenesis Disorder 11a 39
375 c CNR016 Cone-Rod Dystrophy 7 38
376 c CTR174 Cataract 40 38
377 c MCL041 Macular Degeneration, Age-Related, 7 38
378 c RTN180 Retinitis Pigmentosa 74 38
379 c RTN059 Retinitis Pigmentosa 30 38
380 c RTN210 Retinitis Pigmentosa 50 38
381 c RTN048 Retinitis Pigmentosa 19 38
382 c MCL044 Macular Degeneration, Age-Related, 9 38
383 c PRX063 Peroxisome Biogenesis Disorder 2a 37
384 c LBR015 Leber Congenital Amaurosis 5 37
385 c ACH023 Achromatopsia 4 37
386 DNC004 Diencephalic Syndrome 36
387 c RTN056 Retinitis Pigmentosa 28 36
388 c RTN146 Retinitis Pigmentosa 62 36
389 c CNR013 Cone-Rod Dystrophy 12 36
390 c PRX060 Peroxisome Biogenesis Disorder 5a 36
391 CRT012 Cortical Blindness 36
392 c STR040 Stargardt Disease 3 35
393 c RTN134 Retinitis Pigmentosa 40 35
394 c RTN052 Retinitis Pigmentosa 23 35
395 c CNR012 Cone-Rod Dystrophy 11 35
396 c PRX050 Peroxisome Biogenesis Disorder 9b 35
397 RTN006 Retinal Drusen 34
398 c CNR025 Cone-Rod Dystrophy 15 34
399 c RTN152 Retinitis Pigmentosa 66 34
400 c RTN176 Retinitis Pigmentosa 71 34
401 c PRX057 Peroxisome Biogenesis Disorder 4a 34
402 c RTN114 Retinitis Pigmentosa 58 34
403 c PRX065 Peroxisome Biogenesis Disorder 3a 34
404 c CTR095 Cataract 8, Multiple Types 34
405 STR019 Steroid-Induced Glaucoma 33
406 c RTN149 Retinitis Pigmentosa 42 33
407 c RTN186 Retinitis Pigmentosa 75 33
408 MCL029 Macular Degeneration, X-Linked Atrophic 33
409 c CNR026 Cone-Rod Dystrophy 18 33
410 c RTN060 Retinitis Pigmentosa 31 33
411 c PRX051 Peroxisome Biogenesis Disorder 6a 33
412 c CNR021 Cone-Rod Dystrophy 10 33
413 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 33
414 c CNR030 Cone-Rod Dystrophy 20 32
415 c PRX046 Peroxisome Biogenesis Disorder 7a 32
416 c RTN165 Retinitis Pigmentosa 68 32
417 c CHR054 Chronic Closed-Angle Glaucoma 32
418 ECT033 Ectopia Lentis Et Pupillae 32
419 c RTN233 Retinitis Pigmentosa 89 32
420 c RTN218 Retinitis Pigmentosa 84 32
421 c CTR185 Cataract 30 32
422 c EXD006 Exudative Vitreoretinopathy 5 31
423 c RTN144 Retinitis Pigmentosa 61 31
424 SML010 Simultanagnosia 31
425 c RTN061 Retinitis Pigmentosa 32 31
426 c PRX048 Peroxisome Biogenesis Disorder 10a 31
427 c RTN064 Retinitis Pigmentosa 35 31
428 c CTR124 Cataract 10, Multiple Types 31
429 c RTN190 Retinitis Pigmentosa 76 31
430 c MCL071 Macular Dystrophy, Patterned, 2 31
431 c RTN106 Retinitis Pigmentosa 51 31
432 c RTN117 Retinitis Pigmentosa 57 31
433 c SPS062 Spastic Paraplegia 34, X-Linked 31
434 c RTN192 Retinitis Pigmentosa 77 30
435 c RTN178 Retinitis Pigmentosa 72 30
436 P PRX064 Peroxisome Biogenesis Disorder 2b 30
437 c CTR175 Cataract 24 30
438 c PRX058 Peroxisome Biogenesis Disorder 4b 30
439 c RTN160 Retinitis Pigmentosa 60 30
440 c PRX052 Peroxisome Biogenesis Disorder 13a 30
441 c RTN133 Retinitis Pigmentosa 43 30
442 RTN019 Retinal Telangiectasia 30
443 P MCR352 Microphthalmia, Isolated, with Coloboma 6 30
444 CRN238 Corneal Dystrophy, Epithelial Basement Membrane 30
445 CRT069 Cortical Malformations, Occipital 30
446 c CTR119 Cataract 32, Multiple Types 30
447 c NYS013 Nystagmus 6, Congenital, X-Linked 30
448 TXC008 Toxic Optic Neuropathy 29
449 c SPS198 Spastic Paraplegia 16, X-Linked 29
450 c RTN136 Retinitis Pigmentosa 44 29
451 SHP001 Shipyard Eye 29
452 c RTN213 Retinitis Pigmentosa 80 29
453 c RTN065 Retinitis Pigmentosa 36 29
454 c RTN129 Retinitis Pigmentosa 49 29
455 c PRX066 Peroxisome Biogenesis Disorder 3b 29
456 OCL004 Ocular Hyperemia 29
457 c FRS015 Fraser Syndrome 3 28
458 c PRX091 Peroxisome Biogenesis Disorder 8a 28
459 c PRX043 Peroxisome Biogenesis Disorder 6b 28
460 c PRX047 Peroxisome Biogenesis Disorder 5b 28
461 c PRX053 Peroxisome Biogenesis Disorder 14b 28
462 c MCL077 Macular Degeneration, Age-Related, 5 28
463 c MCL030 Macular Degeneration, Age-Related, 10 28
464 c RTN143 Retinitis Pigmentosa 47 28
465 c PRX068 Peroxisome Biogenesis Disorder 7b 27
466 HMC012 Hemicrania Continua 27
467 c MCR282 Microcephaly and Chorioretinopathy 1 27
468 JBR046 Jaberi-Elahi Syndrome 27
469 RTN004 Retinal Microaneurysm 26
470 c PRX062 Peroxisome Biogenesis Disorder 8b 26
471 c CNR029 Cone-Rod Dystrophy 19 26
472 c CTR121 Cataract 25 26
473 PHC002 Phacogenic Glaucoma 25
474 c NNP011 Nanophthalmos 2 25
475 c RTN169 Retinitis Pigmentosa 70 25
476 c CRN160 Corneal Dystrophy, Lattice Type Iiia 25
477 c MCL040 Macular Degeneration, Age-Related, 3 25
478 P TXC009 Toxic Maculopathy 25
479 MTC230 Mitochondrial Complex I Deficiency, Nuclear Type 36 25
480 c CHR449 Choroidal Dystrophy, Central Areolar 2 25
481 c PRX056 Peroxisome Biogenesis Disorder 11b 24
482 c NNP012 Nanophthalmos 4 24
483 c MCL065 Macular Degeneration, Age-Related, 15 24
484 AQS001 Aqueous Misdirection 24
485 c CTR169 Cataract 29 24
486 EYD001 Eye Degenerative Disease 24
487 c MCL036 Macular Degeneration, Age-Related, 6 24
488 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 24
489 c RTN147 Retinitis Pigmentosa 48 23
490 c RTN195 Retinitis Pigmentosa 79 23
491 c CTR157 Cataract 28 23
492 c MCR283 Microcephaly and Chorioretinopathy 2 23
493 c CTR158 Cataract 37 23
494 TRM002 Traumatic Glaucoma 23
495 RTN216 Retinitis Pigmentosa 82 with or Without Situs Inversus 22
496 c SPR083 Sporadic Hemiplegic Migraine 22
497 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 22
498 c CTR110 Cataract 26, Multiple Types 22
499 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 22
500 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 21
501 c HYP832 Hypotrichosis 14 21
502 c PRX089 Peroxisome Biogenesis Disorder 10b 21
503 c RTN214 Retinitis Pigmentosa 81 21
504 c RTN196 Retinitis Pigmentosa 78 21
505 c NNP017 Nanophthalmos 1 21
506 c MCR350 Microphthalmia, Isolated, with Coloboma 5 21
507 MLT035 Multifocal Choroiditis 21
508 c CTR178 Cataract 27 21
509 c MCL073 Macular Dystrophy, Vitelliform, 1 21
510 c MCL051 Macular Degeneration, Age-Related, 12 21
511 P PRM016 Primary Optic Atrophy 21
512 c CTR128 Cataract 33 20
513 c CTR159 Cataract 35 20
514 TBR012 Tuberculous Uveitis 20
515 MTC217 Mitochondrial Complex Iv Deficiency, Nuclear Type 8 20
516 MCL079 Macular Telangiectasia Type 2 20
517 SPT020 Spatial Visualization, Aptitude for 20
518 c MCR210 Microphthalmia, Isolated, with Coloboma 7 19
519 c MCR271 Microphthalmia, Isolated, with Coloboma 10 19
520 c GLC032 Glaucoma, Hereditary 19
521 c GLC060 Glaucoma 1, Open Angle, G 19
522 c CTR190 Cataract 49 18
523 PRT024 Partial Optic Atrophy 18
524 THY105 Thyrocerebroretinal Syndrome 18
525 ABN001 Abnormal Retinal Correspondence 18
526 c MCL032 Macular Degeneration, Age-Related, 11 17
527 c MCL026 Macular Dystrophy, Retinal, 3 16
528 c RTN240 Retinitis Pigmentosa 95 16
529 c GLC104 Glaucoma 1, Open Angle, O 16
530 CLL022 Collins Pope Syndrome 16
531 LTR005 Lateral Displacement of Eye 15
532 RTN198 Retinal Aplasia 15
533 APR010 Apraxia of Eyelid Opening 15
534 RTN185 Retinal Dysplasia, Primary 15
535 NGL005 Ngly1-Congenital Disorder of Deglycosylation 14
536 c OPT071 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 14
537 c MCR335 Microphthalmia, Isolated, with Coloboma 4 14
538 c MCR284 Microcephaly and Chorioretinopathy 3 14
539 P LBR033 Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 14
540 P FRS017 Fraser-Like Syndrome 14
541 RTN199 Retinal Venous Beading 14
542 c MCR346 Microphthalmia, Isolated, with Coloboma 2 14
543 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 13
544 CHL133 Cholestasis with Gallstone, Ataxia, and Visual Disturbance 13
545 TDD001 Todd's Paralysis 13
546 c MCR338 Microphthalmia, Isolated, with Coloboma 1 13
547 c NNP008 Nanophthalmos 3 13
548 PDT048 Pediatric-Onset Glaucoma of Genetic Origin 13
549 P RTN220 Retinal Ciliopathy 13
550 RSR001 Reese Retinal Dysplasia 12
551 c STX006 Stxbp1-Related Encephalopathy 11
552 OPT072 Opticocochleodentate Degeneration 11
553 MYL068 Myelinated Optic Nerve Fibers 11
554 c ADM003 Adamtsl4-Related Eye Disorders 11
555 OPT073 Optic Atrophy--Spastic Paraplegia Syndrome 10
556 NRP050 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 10
557 OPT067 Optic Atrophy with Demyelinating Disease of Cns 10
558 P OPT029 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 10
559 ART139 Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 10
560 c RP6003 Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 9
561 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 9
562 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 9
563 TNT001 Tented Eyebrows 9
564 HYP023 Hypersecretion Glaucoma 9
565 P MCR048 Microcephaly Chorioretinopathy Recessive Form 9
566 RTN202 Retinal Degeneration and Epilepsy 9
567 LTT009 Lattice Degeneration of Retina Leading to Retinal Detachment 8
568 MCR336 Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 8
569 RTN204 Retinal Telangiectasia and Hypogammaglobulinemia 8
570 GHS002 Ghose Sachdev Kumar Syndrome 7
571 ALG004 Al Gazali Khidr Prem Chandran Syndrome 7
572 FRN018 Frenkel Russe Syndrome 7
573 CNT006 Central Pterygium 6
574 VSL001 Visual Verbal Agnosia 6
575 TRS032 Tristichiasis 6
576 PGN001 Pagon Stephan Syndrome 6
577 LXT001 Luxation of Globe 6
578 c CTR008 Cataract Congenital Autosomal Dominant 5
579 EYB006 Eyebrow, Whorl in 5
580 XRD002 Xeroderma of Eyelid 5
581 ECZ001 Eczematous Dermatitis of Eyelid 5
582 DSC002 Discoid Lupus Erythematosus of Eyelid 4
583 HYP045 Hypertrichosis of Eyelid 4
584 SPS224 Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal 4
585 HYP044 Hypotrichosis of Eyelid 4
586 PRP004 Peripheral Scars of Retina 4
587 DYS010 Dystrophies Primarily Involving the Retinal Pigment Epithelium 4
588 GNT168 Genetic Congenital Malformation of the Eye with Glaucoma As a Major Feature 4
589 RRG068 Rare Genetic Optic Nerve Disorder 4
590 ECC013 Eccrine Syringofibroadenomatosis with Eyelid Abnormalities 4
591 RRG051 Rare Genetic Retinal Disorder 3
592 RTN007 Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses 3
593 RRG048 Rare Genetic Disorder Involving Multiple Structures of the Eye 3
594 P GNT060 Genetic Eye Tumor 3
595 c RRG044 Rare Genetic Tumor 3
596 P RRG058 Rare Genetic Disorder of the Anterior Segment of the Eye 3
597 STR110 Structural Developmental Eye Defect of Genetic Origin 3
598 RRC021 Rare Central Nervous System and Retinal Vascular Disease 3
599 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 3
600 RTN076 Retinopathy, Arteriosclerotic 3
601 c RTN224 Retinal Ciliopathy Due to Mutation in the Rpgr Gene 3
602 c RTN226 Retinal Ciliopathy Due to Mutation in Usher Gene 3
603 c RTN222 Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene 3
604 c RTN225 Retinal Ciliopathy Due to Mutation in the Rpgrip Gene 3
605 RRG062 Rare Genetic Eyelid Malposition Disorder 3
606 c RTN221 Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene 3
607 CNG068 Congenital Cystic Eye Multiple Ocular and Intracranial Anomalies 2
608 CNG589 Congenital Optic Disc Excavation of Genetic Origin 2
609 VSL006 Visual Pathway and Hypothalamic Glioma, Childhood 1
610 P NNN008 Noonan Syndrome 1 76
611 c MCP050 Mucopolysaccharidosis, Type Ii 74
612 P JBR020 Joubert Syndrome 1 72
613 XRD010 Xeroderma Pigmentosum, Variant Type 72
614 ACR006 Aceruloplasminemia 69
615 P SPR120 Supranuclear Palsy, Progressive, 1 69
616 P GCH001 Gaucher's Disease 68
617 SND001 Sandhoff Disease 68
618 P KBK002 Kabuki Syndrome 1 67
619 P CNG042 Congenital Central Hypoventilation Syndrome 67
620 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 66
621 MVL001 Mevalonic Aciduria 66
622 ALS001 Alstrom Syndrome 66
623 NVS017 Nevus, Epidermal 65
624 P CNG001 Congenital Myasthenic Syndrome 65
625 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 63
626 GRG001 Greig Cephalopolysyndactyly Syndrome 63
627 P FRD001 Friedreich Ataxia 62
628 CHN055 Chanarin-Dorfman Syndrome 62
629 MYP136 Myopathy, Centronuclear, X-Linked 62
630 c CNT119 Central Hypoventilation Syndrome, Congenital, 1 62
631 P NRB001 Neuroblastoma 62
632 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 61
633 MSL001 Measles 61
634 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 61
635 P SPN301 Spinocerebellar Ataxia 2 61
636 VSC063 Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations 61
637 GYR004 Gyrate Atrophy of Choroid and Retina 60
638 IMM140 Immunodeficiency 47 59
639 CRT002 Cartilage-Hair Hypoplasia 59
640 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 59
641 FRB001 Farber Lipogranulomatosis 59
642 MLN014 Melnick-Needles Syndrome 59
643 P CTS001 Cutis Laxa 57
644 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 57
645 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 57
646 P ADM011 Adams-Oliver Syndrome 57
647 c CCK007 Cockayne Syndrome B 57
648 c CTS045 Cutis Laxa, Autosomal Dominant 1 57
649 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 57
650 PPL025 Popliteal Pterygium Syndrome 56
651 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 56
652 c SPN294 Spinocerebellar Ataxia 1 56
653 KRT002 Keratomalacia 56
654 c CRD259 Ceroid Lipofuscinosis, Neuronal, 6a 55
655 PLS030 Plasminogen Deficiency, Type I 55
656 CHR101 Char Syndrome 55
657 P RHZ001 Rhizomelic Chondrodysplasia Punctata 54
658 CLB010 Coloboma of Macula 54
659 ACR058 Acrofacial Dysostosis 1, Nager Type 54
660 OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 52
661 c GCH016 Gaucher Disease, Type Ii 52
662 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 52
663 SCL046 Scalp-Ear-Nipple Syndrome 52
664 DNR002 Duane-Radial Ray Syndrome 52
665 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 52
666 MBS002 Moebius Syndrome 52
667 c NNN010 Noonan Syndrome 3 52
668 P NGH001 Night Blindness 52
669 SCH068 Schwartz-Jampel Syndrome, Type 1 52
670 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 51
671 c SPN311 Spinocerebellar Ataxia 13 51
672 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 51
673 P KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 51
674 P CRN028 Corneal Ulcer 51
675 BLP005 Blepharitis 51
676 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 51
677 c MCR251 Microphthalmia, Syndromic 6 50
678 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 50
679 CRD002 Cri-Du-Chat Syndrome 50
680 c SPN100 Spinocerebellar Ataxia 27 50
681 c JBR004 Joubert Syndrome 2 50
682 P VTR007 Vitreoretinopathy 49
683 c SPN296 Spinocerebellar Ataxia 17 49
684 c NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 49
685 c SPN308 Spinocerebellar Ataxia 28 49
686 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 49
687 c JBR012 Joubert Syndrome 5 48
688 c DSB006 Desbuquois Dysplasia 1 48
689 c SPN305 Spinocerebellar Ataxia 11 48
690 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 48
691 c JBR013 Joubert Syndrome 8 48
692 c SPN304 Spinocerebellar Ataxia 8 48
693 c SPN293 Spinocerebellar Ataxia 12 48
694 CHR008 Choroiditis 47
695 c SPN312 Spinocerebellar Ataxia 14 47
696 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
697 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 47
698 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 47
699 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 47
700 RTN023 Retinitis 47
701 c JBR025 Joubert Syndrome 17 47
702 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 47
703 c JBR024 Joubert Syndrome 14 47
704 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
705 c SPN314 Spinocerebellar Ataxia 10 46
706 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 46
707 ACR012 Aicardi Syndrome 46
708 c JBR035 Joubert Syndrome 24 46
709 c JBR043 Joubert Syndrome 32 46
710 c JBR031 Joubert Syndrome 21 46
711 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 46
712 OLV004 Oliver-Mcfarlane Syndrome 46
713 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 46
714 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 45
715 c JBR022 Joubert Syndrome 20 45
716 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 45
717 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
718 c JBR011 Joubert Syndrome 7 45
719 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 45
720 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 45
721 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 45
722 c SPN104 Spinocerebellar Ataxia 34 45
723 ORB013 Orbital Disease 44
724 c SPN101 Spinocerebellar Ataxia 29 44
725 c SPN286 Spinocerebellar Ataxia 40 44
726 FNT005 Fontaine Progeroid Syndrome 44
727 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 44
728 c SPN284 Spinocerebellar Ataxia 38 44
729 c SPN097 Spinocerebellar Ataxia 23 44
730 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 44
731 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 44
732 c SPN266 Spinocerebellar Ataxia 35 44
733 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 44
734 c JBR026 Joubert Syndrome 15 44
735 c NNN009 Noonan Syndrome 2 44
736 c JBR042 Joubert Syndrome 23 44
737 c SPN290 Spinocerebellar Ataxia 15 44
738 P NNN037 Noonan Syndrome-Like Disorder with Loose Anagen Hair 44
739 P OCL001 Ocular Albinism 43
740 P DCR003 Dacryoadenitis 43
741 P CLD003 Cold-Induced Sweating Syndrome 43
742 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 43
743 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 43
744 c JBR016 Joubert Syndrome 10 43
745 c MYS052 Myasthenic Syndrome, Congenital, 10 43
746 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 43
747 RBF003 Riboflavin Transporter Deficiency 43
748 c SPN247 Spinocerebellar Ataxia Type 19/22 43
749 PHT008 Photosensitive Epilepsy 42
750 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 42
751 c CTS041 Cutis Laxa, Autosomal Dominant 3 42
752 c SPN105 Spinocerebellar Ataxia 4 42
753 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 42
754 c NNN012 Noonan Syndrome 5 42
755 c SPN265 Spinocerebellar Ataxia 36 42
756 c ADM005 Adams-Oliver Syndrome 1 42
757 MCL003 Macular Holes 42
758 OCL020 Ocular Cicatricial Pemphigoid 42
759 3MC002 3mc Syndrome 1 42
760 c MYS075 Myasthenic Syndrome, Congenital, 13 41
761 c MCR137 Microphthalmia, Isolated 2 41
762 c MYS074 Myasthenic Syndrome, Congenital, 12 41
763 CLR133 Colorblindness, Partial, Protan Series 41
764 c MYS076 Myasthenic Syndrome, Congenital, 8 41
765 c NRB010 Neuroblastoma 1 41
766 c ORT011 Orthostatic Hypotension 1 41
767 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 41
768 XRP001 Xerophthalmia 41
769 c SPN096 Spinocerebellar Ataxia 21 41
770 P HYP087 Hypotrichosis 40
771 P BRT062 Bartsocas-Papas Syndrome 1 40
772 c NNN021 Noonan Syndrome 8 40
773 c JBR015 Joubert Syndrome 6 40
774 c MYS078 Myasthenic Syndrome, Congenital, 14 40
775 c NNN011 Noonan Syndrome 4 40
776 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 40
777 c JBR030 Joubert Syndrome 22 40
778 c SPN103 Spinocerebellar Ataxia 31 40
779 BRT046 Baraitser-Winter Cerebrofrontofacial Syndrome 40
780 c HYP581 Hypotrichosis 6 40
781 P LCR008 Lacrimal Apparatus Disease 39
782 P CNG629 Congenital Disorder of Deglycosylation 1 39
783 GNT006 Giant Papillary Conjunctivitis 39
784 c JBR028 Joubert Syndrome 13 39
785 c JBR037 Joubert Syndrome 26 39
786 c LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 39
787 c JBR027 Joubert Syndrome 16 39
788 ENP001 Enophthalmos 39
789 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 39
790 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
791 c SPN419 Spinocerebellar Ataxia 45 39
792 c NNN020 Noonan Syndrome 7 38
793 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
794 P PRS124 Presynaptic Congenital Myasthenic Syndromes 38
795 DBT007 Diabetic Cataract 38
796 c MYS067 Myasthenic Syndrome, Congenital, 22 38
797 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
798 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 38
799 P DCR004 Dacryocystitis 38
800 HYP008 Hypertensive Retinopathy 38
801 BLP006 Blepharoconjunctivitis 37
802 c JBR036 Joubert Syndrome 25 37
803 c SPN102 Spinocerebellar Ataxia 30 37
804 P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 37
805 STR113 Strabismic Amblyopia 37
806 TLC001 Telecanthus 37
807 c JBR021 Joubert Syndrome 18 37
808 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 37
809 EPT025 Epithelial Basement Membrane Dystrophy 37
810 c SPN418 Spinocerebellar Ataxia 44 37
811 P CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 36
812 AKN002 Akinetic Mutism 36
813 c NNN025 Noonan Syndrome 10 36
814 c JBR040 Joubert Syndrome 30 36
815 c HYP507 Hypotrichosis 1 36
816 LMB050 Limbal Stem Cell Deficiency 36
817 c MYS070 Myasthenic Syndrome, Congenital, 19 36
818 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 36
819 RHY001 Rhyns Syndrome 36
820 c NNN013 Noonan Syndrome 6 36
821 P LNS003 Lens Disease 36
822 VTR005 Vitreous Disease 35
823 c KBK003 Kabuki Syndrome 2 35
824 UVL010 Uveal Disease 35
825 PST086 Posterior Cortical Atrophy 35
826 c JBR045 Joubert Syndrome 33 35
827 c SPN383 Spinocerebellar Ataxia 42 35
828 c ATP003 Atp6v0a2-Related Cutis Laxa 35
829 c SPN299 Spinocerebellar Ataxia 20 35
830 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 35
831 c SPN095 Spinocerebellar Ataxia 19 35
832 c SPN098 Spinocerebellar Ataxia 25 35
833 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
834 c SPN427 Spinocerebellar Ataxia 48 35
835 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 34
836 P DSB002 Desbuquois Dysplasia 34
837 SLF015 Self-Improving Collodion Baby 34
838 c MYS064 Myasthenic Syndrome, Congenital, 16 34
839 SPN450 Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis 34
840 c SPN094 Spinocerebellar Ataxia 18 34
841 PST063 Postsynaptic Congenital Myasthenic Syndromes 34
842 c ADM007 Adams-Oliver Syndrome 2 34
843 c JBR014 Joubert Syndrome 9 34
844 c HYP577 Hypotrichosis 13 34
845 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 34
846 c NNN024 Noonan Syndrome 9 33
847 c NNN034 Noonan Syndrome 12 33
848 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 33
849 CNG462 Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type 33
850 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 33
851 c ADM010 Adams-Oliver Syndrome 5 33
852 LKC002 Leukocoria 33
853 c MYS077 Myasthenic Syndrome, Congenital, 15 33
854 PSD008 Pseudopapilledema 33
855 HRD037 Hardikar Syndrome 33
856 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 33
857 c HYP576 Hypotrichosis 4 33
858 GLC001 Glaucomatocyclitic Crisis 33
859 c NRB015 Neuroblastoma 2 32
860 c CTR111 Cataract 36 32
861 c KRT078 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive 32
862 c NNN036 Noonan Syndrome 13 31
863 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 31
864 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 31
865 SCR039 Scorpion Envenomation 31
866 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 31
867 c DSB005 Desbuquois Dysplasia 2 31
868 c CTS048 Cutis Laxa, Autosomal Recessive, Type Iie 31
869 c MNS014 Monosomy 22 30
870 c JBR039 Joubert Syndrome 28 30
871 c MCR392 Microphthalmia, Syndromic 16 30
872 c MYS065 Myasthenic Syndrome, Congenital, 18 30
873 c NNN029 Noonan Syndrome 11 30
874 CLR132 Colorblindness, Partial, Deutan Series 30
875 c FRD006 Friedreich Ataxia 2 30
876 NSL017 Nasolacrimal Duct Cyst 29
877 c ACT047 Acute Endophthalmitis 29
878 c SPN372 Spinocerebellar Ataxia 43 29
879 ATP013 Atopic Keratoconjunctivitis 29
880 KRT079 Keratosis Pilaris Atrophicans Faciei 29
881 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 29
882 PLL004 Pallister W Syndrome 28
883 c NRB014 Neuroblastoma 3 28
884 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 28
885 c SPN421 Spinocerebellar Ataxia 47 28
886 c HYP528 Hypotrichosis 11 28
887 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 28
888 MNC001 Monocular Esotropia 28
889 c MYP127 Myopia 2, Autosomal Dominant 28
890 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 28
891 DPR017 Deprivation Amblyopia 27
892 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 27
893 PRL006 Paralytic Lagophthalmos 27
894 ISL011 Isolated Aniridia 27
895 c MYS056 Myasthenic Syndrome, Congenital, 17 27
896 c SHR129 Short-Rib Thoracic Dysplasia 21 Without Polydactyly 27
897 c ADM009 Adams-Oliver Syndrome 4 27
898 c JBR044 Joubert Syndrome 31 27
899 c SPN451 Spinocerebellar Ataxia, Autosomal Recessive 29 27
900 HYP048 Hypotropia 27
901 c HYP578 Hypotrichosis 12 27
902 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 27
903 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 27
904 c SPN420 Spinocerebellar Ataxia 46 26
905 c SPN458 Spinocerebellar Ataxia 49 26
906 c SPN323 Spinocerebellar Ataxia 41 26
907 c ADM012 Adams-Oliver Syndrome 6 26
908 c SPN455 Spinocerebellar Ataxia, Autosomal Recessive 31 26
909 c JBR049 Joubert Syndrome 37 26
910 NDL008 Nodular Episcleritis 26
911 c CTR166 Cataract 33, Multiple Types 26
912 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 26
913 c CTR097 Cataract 34, Multiple Types 26
914 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
915 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
916 PHC015 Phacoanaphylactic Uveitis 25
917 c MYP138 Myopia 3, Autosomal Dominant 25
918 SCL011 Sclerosing Keratitis 25
919 HRD019 Hereditary Choroidal Atrophy 25
920 c CNG630 Congenital Disorder of Deglycosylation 2 25
921 c MYS084 Myasthenic Syndrome, Congenital, 7b, Presynaptic, Autosomal Recessive 25
922 CNG005 Congenital Aphakia 25
923 c GNR046 Generalized Epilepsy with Febrile Seizures Plus, Type 10 25
924 c NGH030 Night Blindness, Congenital Stationary, Type 1f 24
925 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 24
926 c MNS008 Monosomy 21 24
927 MRN005 Marie Unna Congenital Hypotrichosis 24
928 c JBR047 Joubert Syndrome 35 24
929 P PRM227 Primary Orthostatic Hypotension 24
930 c NNN038 Noonan Syndrome 14 24
931 c JBR038 Joubert Syndrome 27 24
932 TTR019 Tetrasomy 5p 24
933 CGN001 Cogan-Reese Syndrome 24
934 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 24
935 c ADM008 Adams-Oliver Syndrome 3 24
936 SHR065 Short Stature with Microcephaly and Distinctive Facies 24
937 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 24
938 CRN004 Corneal Abscess 24
939 c JBR050 Joubert Syndrome 38 24
940 c MTC074 Metachromatic Leukodystrophy, Adult Form 24
941 c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 23
942 ISL145 Isolated Macular Dystrophy 23
943 SCL008 Scleromalacia Perforans 23
944 c CHR060 Chronic Dacryocystitis 23
945 MTC169 Mitochondrial Complex I Deficiency, Nuclear Type 23 23
946 c JBR048 Joubert Syndrome 36 23
947 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 23
948 KRT020 Keratoconus Posticus Circumscriptus 23
949 c SPN452 Spinocerebellar Ataxia, Autosomal Recessive 30 23
950 c BRT063 Bartsocas-Papas Syndrome 2 23
951 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 23
952 CRP036 Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 23
953 c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 23
954 c JBR051 Joubert Syndrome 39 23
955 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 22
956 c CLD017 Cold-Induced Sweating Syndrome 3 22
957 BRD008 Borderline Glaucoma 22
958 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
959 c MNS011 Monosomy 9q22.3 22
960 NTH002 Nathalie Syndrome 22
961 c SPN459 Spinocerebellar Ataxia, Autosomal Recessive 32 22
962 c JBR052 Joubert Syndrome 40 22
963 c ACT037 Acute Dacryocystitis 22
964 ERY043 Euryblepharon 22
965 c ORT012 Orthostatic Hypotension 2 21
966 c CRN318 Corneal Dystrophy, Meesmann, 2 21
967 DST044 Distal Trisomy 14q 21
968 c MYP146 Myopia 15, Autosomal Dominant 21
969 GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 21
970 c HYP573 Hypotrichosis 5 20
971 c VCN001 Vcan-Related Vitreoretinopathy 20
972 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 20
973 c SPN259 Spinocerebellar Ataxia 32 20
974 c CTR139 Cataract 42 20
975 CYC003 Cyclotropia 20
976 c MYP141 Myopia 5, Autosomal Dominant 20
977 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 20
978 P ASP028 Asperger Syndrome, X-Linked 1 20
979 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 20
980 c ADL084 Adult-Onset Myasthenia Gravis 20
981 P STR111 Stromal Corneal Dystrophy 20
982 c JVN038 Juvenile Myasthenia Gravis 20
983 P MYP137 Myopia 1, X-Linked 20
984 c ACQ027 Acquired Cutis Laxa 20
985 MCR317 Macrophthalmia, Colobomatous, with Microcornea 20
986 HMF007 Hemifacial Hyperplasia with Strabismus 20
987 c ASP029 Asperger Syndrome, X-Linked 2 19
988 c SPR049 Supranuclear Palsy, Progressive, 2 19
989 c NYS012 Nystagmus 5, Congenital, X-Linked 19
990 c MYP140 Myopia 17, Autosomal Dominant 19
991 MNF001 Monofixation Syndrome 19
992 c LTB003 Ltbp4-Related Cutis Laxa 19
993 c CNT121 Central Hypoventilation Syndrome, Congenital, 3 19
994 OPH014 Ophthalmomandibulomelic Dysplasia 19
995 c ACQ002 Acquired Night Blindness 19
996 c MYP044 Myopia 10 19
997 P ATS469 Autosomal Monosomy 19
998 BTT011 Butterfly-Shaped Pigment Dystrophy 19
999 c CHR088 Chronic Inflammation of Lacrimal Passage 18
1000 c CNT026 Central Corneal Ulcer 18
1001 c CRN218 Corneal Dystrophy, Fuchs Endothelial, 8 18
1002 c FBL003 Fbln5-Related Cutis Laxa 18
1003 c MYP144 Myopia 12, Autosomal Dominant 18
1004 ACR078 Acral Self-Healing Collodion Baby 18
1005 PRD026 Pre-Descemet Corneal Dystrophy 18
1006 c KRT053 Keratoconus 7 18
1007 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 17
1008 PRG117 Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome 17
1009 BRW005 Brawny Scleritis 17
1010 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 17
1011 ESS005 Essential Iris Atrophy 17
1012 c NNN032 Non-Infectious Posterior Uveitis 17
1013 c MYP040 Myopia 7 17
1014 c MYP048 Myopia 9 17
1015 c CNG621 Congenital Myasthenic Syndrome 7 17
1016 RDL029 Radial Ray Hypoplasia with Choanal Atresia 17
1017 CRY037 Cryptophthalmia 17
1018 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 17
1019 c MYP041 Myopia 8 17
1020 c MYP133 Myopia 18, Autosomal Recessive 17
1021 ORB003 Orbital Tenonitis 17
1022 HRP038 Herpes Simplex Virus Stromal Keratitis 16
1023 c SPN107 Spinocerebellar Ataxia 9 16
1024 c ACT030 Acute Dacryoadenitis 16
1025 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 16
1026 c JVN036 Juvenile Sialidosis Type 2 16
1027 c CHR035 Chronic Dacryoadenitis 16
1028 c MYP069 Myopia 14 16
1029 APP006 Apperceptive Agnosia 16
1030 c MYP147 Myopia 19, Autosomal Dominant 16
1031 ERL040 Early-Onset Sutural Cataract 16
1032 c MYP143 Myopia 11, Autosomal Dominant 15
1033 c HYP551 Hypotrichosis 9 15
1034 P ACT070 Acute Inflammation of Lacrimal Passage 15
1035 c HYP544 Hypotrichosis 10 15
1036 P LGB001 Leg Absence Deformity Cataract 15
1037 PRX083 Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 15
1038 c MYP145 Myopia 16, Autosomal Dominant 15
1039 c NRB012 Neuroblastoma 5 15
1040 c NRB016 Neuroblastoma 7 14
1041 ETH013 Euthyroid Graves Orbitopathy 14
1042 MLT117 Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 14
1043 CNG335 Congenital Ectropion Uveae 14
1044 c ELN002 Eln-Related Cutis Laxa 14
1045 c MYP134 Myopia 13, X-Linked 14
1046 c EFM001 Efemp2-Related Cutis Laxa 13
1047 TRP011 Triopia 13
1048 PLZ009 Pelizaeus-Merzbacher Disease in Female Carriers 13
1049 ACT168 Acute Annular Outer Retinopathy 13
1050 SPR147 Superficial Corneal Dystrophy 13
1051 c NRB011 Neuroblastoma 4 13
1052 ERL036 Early-Onset Posterior Subcapsular Cataract 13
1053 CLF040 Cleft Lip-Retinopathy Syndrome 12
1054 ORB018 Orbital Leiomyoma 12
1055 TXN001 Toxin-Mediated Infectious Botulism 12
1056 IDP036 Idiopathic Bilateral Vestibulopathy 12
1057 c NRB013 Neuroblastoma 6 12
1058 ISL131 Isolated Foveal Hypoplasia 12
1059 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 11
1060 c CTD001 Ctdp1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy 11
1061 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 11
1062 P CNG595 Congenital Alacrima 11
1063 c MYP084 Myopia 20, Autosomal Dominant 11
1064 SCL005 Scleroperikeratitis 11
1065 c ALC031 Alacrima, Congenital, Autosomal Dominant 10
1066 3Q2004 3q26 Microduplication Syndrome 10
1067 OCL054 Ocular Motor Apraxia, Cogan Type 10
1068 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 10
1069 SGL001 Siegler Brewer Carey Syndrome 10
1070 c SCN085 Secondary Ectropion 9
1071 INV017 Inverse Marcus-Gunn Phenomenon 9
1072 NBL002 Noble Bass Sherman Syndrome 9
1073 c FML317 Familial Monosomy 7 Syndrome 9
1074 ISL071 Isolated Congenital Ectropion 9
1075 c SPR048 Supranuclear Palsy, Progressive, 3 9
1076 NYS018 Nystagmus, Voluntary 9
1077 c ALC032 Alacrima, Congenital, Autosomal Recessive 9
1078 c PSD023 Pseudo-Gaucher Disease 9
1079 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 8
1080 HRM024 Hermansky-Pudlak Syndrome Due to Ap-3 Deficiency 8
1081 P LTN030 Late-Onset Steinert Myotonic Dystrophy 8
1082 SYN127 Syndromic Ectopia Lentis 8
1083 LNS002 Lens-Induced Iridocyclitis 8
1084 LCR016 Lacrimal Drainage System Anomaly 7
1085 MCH005 Mechanical Lagophthalmos 7
1086 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 7
1087 SYN150 Syndromic Cataract 7
1088 PRG012 Progressive Peripheral Pterygium 7
1089 OCL075 Oculocutaneous or Ocular Albinism 7
1090 EPS002 Episcleritis Periodica Fugax 6
1091 GRY003 Grayson-Wilbrandt Corneal Dystrophy 6
1092 c KLH009 Klhl7-Related Cold-Induced Sweating-Like Syndrome 6
1093 ERL041 Early-Onset Zonular Cataract 6
1094 NLX006 Neu-Laxova Syndrome Due to 3-Phosphoglycerate Dehydrogenase Deficiency 6
1095 SYN148 Syndromic Aniridia 6
1096 c GRD008 Grid2-Related Spinocerebellar Ataxia 6
1097 c TTL014 Total Autosomal Monosomy 6
1098 INT586 Intellectual Disability-Early-Onset Cataract-Microcephaly Syndrome 6
1099 NLX008 Neu-Laxova Syndrome Due to 3-Phosphoserine Phosphatase Deficiency 5
1100 c RRD060 Rare Disorder of the Lacrimal Apparatus 5
1101 ISL130 Isolated Congenital Entropion 5
1102 SYN143 Syndromic Telecanthus 4
1103 SCR032 Scarring in Glaucoma Filtration Surgical Procedures 4
1104 ISL132 Isolated Megalopapilla 4
1105 c SYS075 Systemic Diseases with Panuveitis 4
1106 c RRL005 Rare Lens Disease 4
1107 SYN126 Syndromic Microspherophakia 4
1108 SYN147 Syndromic Ankyloblepharon Filiforme Adnatum 4
1109 LNS009 Lens Size Anomaly 4
1110 SYN145 Syndromic Epicanthus 3
1111 SYN130 Syndromic Lacrimal System Disorder 3
1112 LNS007 Lens Shape Anomaly 3
1113 CRN314 Craniostenosis with Strabismus 3
1114 CNG631 Congenital Aphakia-Iris Hypoplasia-Microphthalmia-Microcornea Syndrome 3
1115 CHR694 Chromosomal Anomaly with Cataract 3
1116 SYN129 Syndromic Chorioretinal Dystrophy 3
1117 INF183 Inflammatory/autoimmune Disorder Involving the Lacrimal System 3
1118 ISL146 Isolated Chorioretinal Dystrophy 3
1119 ISL144 Isolated Vitreoretinopathy 3
1120 SYN151 Syndromic Corneal Dystrophy 3
1121 SYN153 Syndromic Hyperopia 3
1122 RTN015 Retinal Cancer 52
1123 OCL009 Ocular Cancer 57
1124 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 58
1125 c SKN068 Skin/hair/eye Pigmentation, Variation in, 3 26
1126 c SKN070 Skin/hair/eye Pigmentation, Variation in, 8 15
1127 P NRP066 Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy 43
1128 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 66
1129 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 60
1130 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 52
1131 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 52
1132 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 51
1133 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 50
1134 OCL022 Ocular Melanoma 50
1135 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 50
1136 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 50
1137 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 48
1138 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 46
1139 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 45
1140 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 42
1141 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 37
1142 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 37
1143 P MSC002 Muscular Dystrophy-Dystroglycanopathy 36
1144 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 35
1145 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 33
1146 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 33
1147 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 30
1148 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 25
1149 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 24
1150 c MSC200 Muscular Dystrophy-Dystroglycanopathy , Type B, 15 20
1151 c MSC203 Muscular Dystrophy-Dystroglycanopathy Type B 10
1152 OPT008 Optic Nerve Neoplasm 27
1153 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 30
1154 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 19
1155 c NRP067 Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy 30
1156 c NRP068 Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy 21
1157 P LYM118 Lymphoma 65
1158 KNS001 Kniest Dysplasia 54
1159 ECZ002 Eczema Herpeticum 44
1160 RFM001 Roifman Syndrome 37
1161 c ADL001 Adult Lymphoma 35
1162 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 33
1163 WYB002 Wyburn-Mason Syndrome 30
1164 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 29
1165 c EYL003 Eye Lymphoma 28
1166 KPR002 Kapur-Toriello Syndrome 27
1167 c SKN064 Skin/hair/eye Pigmentation, Variation in, 6 14
1168 c SKN072 Skin/hair/eye Pigmentation, Variation in, 10 13
1169 BLT005 Bilateral Meningioma of Optic Nerve 10
1170 FLT006 Floating-Harbor Syndrome 55
1171 c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 56
1172 c USH037 Usher Syndrome, Type Iia 55
1173 OPT007 Optic Nerve Glioma 41
1174 c PRM023 Pre-Malignant Neoplasm 29
1175 NRD073 Neurodevelopmental Disorder with Visual Defects and Brain Anomalies 24
1176 HLP033 Halperin-Birk Syndrome 23
1177 MLG010 Malignant Eyelid Melanoma 8
1178 P EYC001 Eye Carcinoma in Situ 7
1179 ALL005 Allergic Contact Dermatitis of Eyelid 7
1180 P MCH002 Machado-Joseph Disease 63
1181 P NRN021 Neuronal Ceroid Lipofuscinosis 61
1182 c LSS005 Lissencephaly 1 59
1183 P LSS002 Lissencephaly 54
1184 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 49
1185 c LSS010 Lissencephaly 4 46
1186 c LSS009 Lissencephaly 3 43
1187 c LSS025 Lissencephaly 5 39
1188 c LSS042 Lissencephaly 10 39
1189 c LSS035 Lissencephaly 8 35
1190 P SKN067 Skin/hair/eye Pigmentation, Variation in, 2 32
1191 c BRN149 Brain Small Vessel Disease 1 31
1192 EYL002 Eyelid Carcinoma 27
1193 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 24
1194 ICH079 Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features 24
1195 NRV002 Nerve Fibre Bundle Defect 20
1196 c SKN066 Skin/hair/eye Pigmentation, Variation in, 5 19
1197 WLF014 Wolfram Syndrome, Mitochondrial Form 19
1198 c LSS044 Lissencephaly 6 18
1199 c MCH012 Machado-Joseph Disease Type 1 18
1200 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 18
1201 c MCH013 Machado-Joseph Disease Type 3 17
1202 c MCH014 Machado-Joseph Disease Type 2 17
1203 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
1204 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
1205 P PLC011 Pilocytic Astrocytoma 66
1206 SPN008 Spondyloepiphyseal Dysplasia Congenita 57
1207 ONC002 Onchocerciasis 50
1208 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies 38
1209 SNJ002 Snijders Blok-Campeau Syndrome 33
1210 c JVN009 Juvenile Pilocytic Astrocytoma 33
1211 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 31
1212 NRD097 Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 22
1213 c CNR041 Cone-Rod Dystrophy and Hearing Loss 2 19
1214 HYP874 Hypotaurinemic Retinal Degeneration and Cardiomyopathy 19
1215 c CNG411 Congenital Disorder of Glycosylation, Type in 67
1216 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
1217 CYS010 Cystinosis 59
1218 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
1219 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 58
1220 P FML023 Familial Hemiplegic Migraine 54
1221 BLL003 Bell's Palsy 53
1222 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
1223 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
1224 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
1225 c AXN010 Axenfeld-Rieger Syndrome, Type 3 50
1226 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
1227 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
1228 c USH039 Usher Syndrome, Type Ic 48
1229 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
1230 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
1231 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
1232 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
1233 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
1234 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
1235 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
1236 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
1237 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
1238 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
1239 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
1240 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
1241 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
1242 c CNG379 Congenital Disorder of Glycosylation, Type It 42
1243 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
1244 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
1245 c KNN007 Kenny-Caffey Syndrome, Type 2 41
1246 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
1247 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
1248 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
1249 c KNN009 Kenny-Caffey Syndrome, Type 1 39
1250 c BRN140 Brain Small Vessel Disease 2 39
1251 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
1252 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
1253 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
1254 c CNG188 Congenital Disorder of Glycosylation, Type if 35
1255 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
1256 c BRN141 Brain Small Vessel Disease 3 34
1257 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
1258 KPP002 Keppen-Lubinsky Syndrome 32
1259 P BRN150 Brain Small Vessel Disease 28
1260 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
1261 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
1262 CLC058 Clcn2-Related Leukoencephalopathy 26
1263 c MCR214 Microphthalmia, Isolated, with Coloboma 9 26
1264 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
1265 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
1266 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
1267 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
1268 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
1269 INT334 Intellectual Developmental Disorder and Retinitis Pigmentosa 21
1270 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 18
1271 c CL4005 Col4a1-Related Brain Small-Vessel Disease 9
1272 c CNG628 Congenital Disorder of Glycosylation Iw 9
1273 P DSR041 Disorder of Multiple Glycosylation 6
1274 LBR037 Leber Hereditary Optic Neuropathy with Demyelinating Disease of Cns 3
1275 P CRN037 Craniosynostosis 66
1276 P HRM001 Hermansky-Pudlak Syndrome 63
1277 PTT046 Pituitary Hormone Deficiency, Combined, 2 63
1278 P EPD009 Epidermolysis Bullosa Dystrophica 62
1279 TRN015 Transient Cerebral Ischemia 61
1280 c LSS006 Lissencephaly 2 59
1281 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 57
1282 c HRM005 Hermansky-Pudlak Syndrome 1 57
1283 c HRM017 Hermansky-Pudlak Syndrome 2 56
1284 c CRN278 Craniosynostosis 1 53
1285 WRN002 Wernicke-Korsakoff Syndrome 51
1286 c HRM009 Hermansky-Pudlak Syndrome 6 50
1287 MNL001 Monilethrix 49
1288 c HRM006 Hermansky-Pudlak Syndrome 3 49
1289 c WRD032 Waardenburg Syndrome, Type 2a 49
1290 PTT004 Pituitary Apoplexy 49
1291 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 48
1292 OCL069 Ocular Motor Apraxia 48
1293 c HRM008 Hermansky-Pudlak Syndrome 5 48
1294 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 47
1295 c HRM012 Hermansky-Pudlak Syndrome 9 46
1296 P SPN202 Spinocerebellar Ataxia, X-Linked 1 46
1297 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 44
1298 c JBR018 Joubert Syndrome 4 43
1299 MND025 Mandibulofacial Dysostosis with Alopecia 43
1300 c USH044 Usher Syndrome, Type Iiib 42
1301 c HRM007 Hermansky-Pudlak Syndrome 4 41
1302 c HRM010 Hermansky-Pudlak Syndrome 7 40
1303 c DVL064 Developmental and Epileptic Encephalopathy 38 40
1304 SWN003 Sweeney-Cox Syndrome 39
1305 c SPN364 Spinocerebellar Ataxia, X-Linked 3 39
1306 c CRN277 Craniosynostosis 2 38
1307 c HRM011 Hermansky-Pudlak Syndrome 8 38
1308 c SPN363 Spinocerebellar Ataxia, X-Linked 4 35
1309 c WRD022 Waardenburg Syndrome, Type 2d 35
1310 EXD009 Exudative Vitreoretinopathy 2, X-Linked 35
1311 c WRD029 Waardenburg Syndrome, Type 2b 34
1312 FBR094 Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement 34
1313 INT313 Intellectual Developmental Disorder with Cardiac Arrhythmia 34
1314 HYD065 Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies 34
1315 c CRN281 Craniosynostosis 7 32
1316 HYP346 Hypotrichosis and Recurrent Skin Vesicles 32
1317 c SPN203 Spinocerebellar Ataxia, X-Linked 5 29
1318 BRW006 Brown Syndrome 28
1319 c CRN217 Craniosynostosis 3 28
1320 c CRN221 Craniosynostosis 4 28
1321 P CNR040 Cone-Rod Dystrophy and Hearing Loss 1 27
1322 c HRM023 Hermansky-Pudlak Syndrome 11 26
1323 LKD026 Leukodystrophy, Progressive, Early Childhood-Onset 26
1324 c HRM020 Hermansky-Pudlak Syndrome 10 26
1325 c CRN256 Craniosynostosis 6 25
1326 CLR122 Ciliary Body Cancer 25
1327 c DVL106 Developmental and Epileptic Encephalopathy 83 25
1328 8P2002 8p23.1 Duplication Syndrome 24
1329 MYC075 Myoclonus, Intractable, Neonatal 24
1330 c INT477 Intellectual Developmental Disorder, Autosomal Recessive 74 24
1331 c CRN216 Craniosynostosis 5 23
1332 SHK001 Shaken Baby Syndrome 23
1333 c SPN403 Spinocerebellar Ataxia, X-Linked 2 20
1334 ABS003 Absence of Septum Pellucidum 18
1335 OST142 Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome 14
1336 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 13
1337 RRR001 Rere-Related Disorders 12
1338 DVL026 Developmental Defect of the Eye 10
1339 FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 9
1340 RRG076 Rare Genetic Eye Disease 8
1341 ALG005 Al Gazali Sabrinathan Nair Syndrome 7
1342 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 7
1343 GNT069 Genetic Developmental Defect of the Eye 6
1344 SNS025 Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 5
1345 RVL001 Ruvalcaba Churesigaew Myhre Syndrome 5
1346 c CRN093 Craniosynostosis Autosomal Dominant 4
1347 c RRG052 Rare Genetic Disorder of the Posterior Segment of the Eye 3
1348 GNT080 Genetic Central Nervous System and Retinal Vascular Disease 3
1349 RRG047 Rare Genetic Retinal Vasculopathy 3
1350 RRG071 Rare Genetic Disorder of the Visual Organs 3
1351 c MCL042 Macular Degeneration, Age-Related, 1 82
1352 P HNT016 Huntington Disease 72
1353 P FRG001 Fragile X Syndrome 69
1354 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69
1355 SMT004 Smith-Lemli-Opitz Syndrome 69
1356 P MYS003 Myasthenia Gravis 69
1357 P RTH006 Rothmund-Thomson Syndrome, Type 2 69
1358 MLT163 Multiple Pterygium Syndrome, Escobar Variant 68
1359 ACH022 Achalasia-Addisonianism-Alacrima Syndrome 66
1360 P CRN015 Cornelia De Lange Syndrome 66
1361 P PLZ001 Pelizaeus-Merzbacher Disease 65
1362 P CFF008 Coffin-Siris Syndrome 1 64
1363 P ZLL001 Zellweger Syndrome 64
1364 c MCP043 Mucopolysaccharidosis, Type Iiia 64
1365 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 64
1366 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 63
1367 c GLC097 Glaucoma 3, Primary Congenital, a 63
1368 P EPL198 Epilepsy, Myoclonic Juvenile 62
1369 c LTN004 Late-Onset Retinal Degeneration 62
1370 STR039 Sturge-Weber Syndrome 62
1371 c CRN139 Cornelia De Lange Syndrome 1 62
1372 P STR022 Stargardt Disease 62
1373 P TRC072 Treacher Collins Syndrome 1 62
1374 PPL048 Papillorenal Syndrome 62
1375 LCR014 Lacrimoauriculodentodigital Syndrome 61
1376 DPM001 Dopamine Beta-Hydroxylase Deficiency 60
1377 P CTR002 Cataract 60
1378 GLC012 Galactosialidosis 59
1379 P STC001 Stickler Syndrome 58
1380 CRN276 Corneal Endothelial Dystrophy 57
1381 P STR020 Strabismus 57
1382 P UVT001 Uveitis 57
1383 P EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 56
1384 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 56
1385 c MCP048 Mucopolysaccharidosis, Type Ivb 56
1386 c MTC054 Mitochondrial Dna Depletion Syndrome 7 56
1387 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 56
1388 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 56
1389 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 56
1390 c ANT034 Anterior Uveitis 56
1391 P MYP006 Myopia 56
1392 c GLC111 Galactosemia Ii 55
1393 P FRN036 Frontonasal Dysplasia 1 55
1394 c INT064 Intermediate Uveitis 55
1395 OHD004 Ohdo Syndrome 54
1396 ICH054 Ichthyosis, X-Linked 54
1397 MSC077 Muscle Eye Brain Disease 54
1398 OCL008 Oculopharyngeal Muscular Dystrophy 54
1399 P CNG010 Congenital Stationary Night Blindness 54
1400 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
1401 P RTN018 Retinal Disease 54
1402 P CHR637 Choroidal Dystrophy, Central Areolar, 1 53
1403 FRY006 Fryns Microphthalmia Syndrome 53
1404 P NRD007 Neurodegeneration with Brain Iron Accumulation 52
1405 c MTC063 Mitochondrial Dna Depletion Syndrome 3 52
1406 c GLL038 Galloway-Mowat Syndrome 1 52
1407 P JVN008 Juvenile Glaucoma 51
1408 c MTC058 Mitochondrial Dna Depletion Syndrome 6 51
1409 ALL009 Allergic Conjunctivitis 51
1410 c PST005 Posterior Uveitis 51
1411 HYP801 Hyperferritinemia with or Without Cataract 51
1412 EXS001 Exostosis 50
1413 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 50
1414 P BLP047 Blepharocheilodontic Syndrome 1 50
1415 c MTC060 Mitochondrial Dna Depletion Syndrome 9 49
1416 c MTC062 Mitochondrial Dna Depletion Syndrome 2 49
1417 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 49
1418 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 49
1419 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 49
1420 AST006 Astigmatism 48
1421 BLL004 Bullous Keratopathy 48
1422 SNG007 Sengers Syndrome 48
1423 c GRS013 Griscelli Syndrome, Type 1 48
1424 c USH020 Usher Syndrome, Type Iic 48
1425 P TTR031 Tetraamelia Syndrome 48
1426 c CRN134 Cornelia De Lange Syndrome 2 47
1427 EPT021 Epithelial Recurrent Erosion Dystrophy 47
1428 PLR023 Polr3-Related Leukodystrophy 47
1429 c ANT085 Anterior Segment Dysgenesis 5 47
1430 P MTC010 Mitochondrial Dna Depletion Syndrome 47
1431 c MTC059 Mitochondrial Dna Depletion Syndrome 5 47
1432 OCC002 Occult Macular Dystrophy 47
1433 c ZLL011 Zellweger Spectrum Disorder 47
1434 CHR492 Chromosome 13q14 Deletion Syndrome 47
1435 SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 47
1436 PTH003 Pathologic Nystagmus 47
1437 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 46
1438 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 46
1439 VRN004 Vernal Keratoconjunctivitis 46
1440 P GLL032 Galloway-Mowat Syndrome 46
1441 JLL001 Jalili Syndrome 46
1442 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 45
1443 P DNR001 Duane Retraction Syndrome 45
1444 ARC025 Arachnoid Cysts, Intracranial 45
1445 PRP026 Peripheral Retinal Degeneration 45
1446 c FML363 Familial Adult Myoclonic Epilepsy 44
1447 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 44
1448 c MTC088 Mitochondrial Dna Depletion Syndrome 13 44
1449 VTR003 Vitreous Detachment 44
1450 P CRN026 Corneal Edema 44
1451 P PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 44
1452 c NPH067 Nephronophthisis 12 44
1453 P ECT005 Ectropion 44
1454 c ATM099 Autoimmune Uveitis 44
1455 EST005 Esotropia 43
1456 c CTR130 Cataract 9, Multiple Types 43
1457 c CFF009 Coffin-Siris Syndrome 4 43
1458 c MYC083 Myoclonic Epilepsy, Familial Infantile 43
1459 c MCR212 Microphthalmia, Syndromic 12 42
1460 c AXN009 Axenfeld-Rieger Syndrome, Type 1 42
1461 EXT022 Exotropia 42
1462 c MCP051 Mucopolysaccharidosis, Type Ix 42
1463 PRL047 Prolonged Electroretinal Response Suppression 42
1464 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 42
1465 c CRD257 Ceroid Lipofuscinosis, Neuronal, 4 42
1466 CHR382 Chromosome 18q Deletion Syndrome 42
1467 IVC001 Ivic Syndrome 42
1468 SCT002 Scotoma 42
1469 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 42
1470 ORB006 Orbital Cellulitis 42
1471 CRN237 Corneal Dystrophy, Avellino Type 41
1472 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
1473 P CRN024 Corneal Disease 41
1474 OCL015 Oculomotor Apraxia 41
1475 c CHR086 Chronic Conjunctivitis 41
1476 LCR013 Lacrimal Duct Defect 41
1477 NRR001 Neuroretinitis 41
1478 c PRM032 Primary Congenital Glaucoma 41
1479 ANG004 Angioid Streaks 41
1480 EYL005 Eyelid Disease 41
1481 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 40
1482 LTH002 Lathosterolosis 40
1483 c CRN209 Cornelia De Lange Syndrome 5 40
1484 c GRS012 Griscelli Syndrome, Type 3 40
1485 c MCR312 Microphthalmia, Syndromic 10 40
1486 SYM002 Sympathetic Ophthalmia 40
1487 FCH002 Fuchs' Heterochromic Uveitis 40
1488 c HYP525 Hypotrichosis 2 40
1489 P OGC005 Oguchi Disease 40
1490 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 40
1491 ATX023 Ataxia, Sensory, 1, Autosomal Dominant 39
1492 c CTR125 Cataract 7 39
1493 c WRB005 Warburg Micro Syndrome 4 39
1494 FRS019 Farsightedness 39
1495 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 39
1496 c CTR132 Cataract 3, Multiple Types 39
1497 RNG003 Ring Dermoid of Cornea 39
1498 c CFF011 Coffin-Siris Syndrome 6 39
1499 c CTR115 Cataract 16, Multiple Types 39
1500 PRM024 Primary Angle-Closure Glaucoma 39
1501 P PRS013 Prosopagnosia 39
1502 P RHM037 Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis 39
1503 c HYP559 Hypotrichosis 8 39
1504 P FML362 Familial Isolated Hypoparathyroidism 39
1505 c CTR170 Cataract 30, Multiple Types 39
1506 c NGH025 Night Blindness, Congenital Stationary, Type 2a 38
1507 c CTR113 Cataract 11, Multiple Types 38
1508 CRN022 Corneal Degeneration 38
1509 EXC003 Excessive Tearing 38
1510 c GLC083 Glaucoma 3, Primary Infantile, B 38
1511 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
1512 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 38
1513 c STC013 Stickler Syndrome, Type Ii 38
1514 c CFF007 Coffin-Siris Syndrome 2 38
1515 c CFF010 Coffin-Siris Syndrome 3 38
1516 c ANT084 Anterior Segment Dysgenesis 3 38
1517 OPH002 Ophthalmia Neonatorum 38
1518 c CTR145 Cataract 44 37
1519 CRN274 Corneal Dystrophy, Posterior Amorphous 37
1520 c ACT067 Acute Conjunctivitis 37
1521 INT042 Internuclear Ophthalmoplegia 37
1522 GRN055 Granular Corneal Dystrophy 37
1523 UVL008 Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability 37
1524 c FRN033 Frontonasal Dysplasia 2 37
1525 RCR001 Recurrent Corneal Erosion 37
1526 DGN002 Degenerative Myopia 36
1527 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 36
1528 c TRC071 Treacher Collins Syndrome 3 36
1529 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 36
1530 CHR079 Choroid Disease 36
1531 HRD016 Hereditary Retinal Dystrophy 36
1532 c CTR129 Cataract 31, Multiple Types 36
1533 OCL010 Ocular Hypotension 35
1534 c CTR181 Cataract 18 35
1535 XRD026 Xeroderma Pigmentosum-Cockayne Syndrome Complex 35
1536 CNJ007 Conjunctivochalasis 35
1537 c NGH027 Night Blindness, Congenital Stationary, Type 1c 35
1538 c EPL155 Epilepsy, Progressive Myoclonic, 8 35
1539 c RTN237 Retinitis Pigmentosa 91 34
1540 c EPL207 Epilepsy, Progressive Myoclonic, 1b 34
1541 c CTR122 Cataract 5, Multiple Types 34
1542 BRN041 Bornholm Eye Disease 34
1543 CTR014 Cataract Microcornea Syndrome 34
1544 c CTR183 Cataract 38 34
1545 c ALB015 Albinism, Oculocutaneous, Type V 34
1546 c EPL134 Epilepsy, Progressive Myoclonic 7 34
1547 PPL019 Papillary Conjunctivitis 34
1548 c INF122 Infantile Krabbe Disease 34
1549 LGP001 Lagophthalmos 34
1550 c NGH007 Night Blindness, Congenital Stationary, Type 1b 34
1551 NRD139 Neurodevelopmental Disorder with Hearing Loss, Seizures, and Brain Abnormalities 34
1552 ANS004 Anisometropia 33
1553 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 33
1554 c INF019 Infectious Anterior Uveitis 33
1555 RTN123 Retinochoroidal Coloboma 33
1556 c MCR228 Microphthalmia, Syndromic 13 33
1557 YHV001 You-Hoover-Fong Syndrome 33
1558 c CFF014 Coffin-Siris Syndrome 9 33
1559 c CTR102 Cataract 2, Multiple Types 33
1560 MCP039 Mucoepithelial Dysplasia, Hereditary 33
1561 c CTR131 Cataract 17, Multiple Types 32
1562 CHR077 Chorioretinal Scar 32
1563 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 32
1564 c MTC126 Mitochondrial Dna Depletion Syndrome 14 32
1565 P KNN002 Kenny-Caffey Syndrome 32
1566 c EPL009 Epilepsy Progressive Myoclonic Type 3 32
1567 c GLL040 Galloway-Mowat Syndrome 3 32
1568 CRN273 Corneal Dystrophy, Subepithelial Mucinous 32
1569 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 31
1570 c EPL188 Epilepsy, Progressive Myoclonic, 10 31
1571 TTR027 Tetrasomy 15q26 31
1572 PTH001 Pthirus Pubis Infestation 30
1573 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 30
1574 LGH012 Leigh Syndrome with Leukodystrophy 30
1575 LGH013 Leigh Syndrome with Cardiomyopathy 30
1576 3MC004 3mc Syndrome 3 30
1577 DRM043 Dermochondrocorneal Dystrophy 30
1578 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 30
1579 c BRD050 Bardet-Biedl Syndrome 21 29
1580 c FRN032 Frontonasal Dysplasia 3 29
1581 WLD004 Wildervanck Syndrome 29
1582 c SNR015 Senior-Loken Syndrome 8 29
1583 c KRT029 Keratoconus 1 29
1584 c CFF017 Coffin-Siris Syndrome 12 29
1585 c CTR141 Cataract 21, Multiple Types 29
1586 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 29
1587 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 29
1588 c CFF013 Coffin-Siris Syndrome 8 29
1589 P MCL035 Macular Dystrophy, Retinal, 2 29
1590 c INH030 Inherited Retinal Disorder 28
1591 c EPL154 Epilepsy, Progressive Myoclonic, 9 28
1592 ANS002 Aniseikonia 28
1593 IMM002 Immature Cataract 28
1594 HYP047 Hypertropia 28
1595 PST044 Postorgasmic Illness Syndrome 28
1596 CRB204 Cerebellar, Ocular, Craniofacial, and Genital Syndrome 28
1597 c MYC086 Myoclonic Epilepsy, Juvenile 4 28
1598 PTC005 Pituicytoma 28
1599 c LKD028 Leukodystrophy, Hypomyelinating, 15 28
1600 c PRS058 Prosopagnosia, Hereditary 28
1601 c CFF012 Coffin-Siris Syndrome 7 27
1602 c MYC068 Myoclonic Epilepsy of Infancy 27
1603 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 27
1604 VST003 Vestibular Nystagmus 27
1605 c CTR180 Cataract 22, Multiple Types 27
1606 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 27
1607 c HYP515 Hypotrichosis 3 27
1608 c DVL101 Developmental and Epileptic Encephalopathy 78 27
1609 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 26
1610 CHR252 Chromosome 5p Duplication 26
1611 c PLZ002 Pelizaeus-Merzbacher-Like Disease 26
1612 c CTR116 Cataract 15, Multiple Types 26
1613 c ANT067 Anterior Segment Dysgenesis 8 26
1614 P ACT077 Acute Orbital Inflammation 26
1615 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 26
1616 c ANT087 Anterior Segment Dysgenesis 6 26
1617 c CFF006 Coffin-Siris Syndrome 5 26
1618 TRN011 Transient Refractive Change 26
1619 PRG122 Prognathism, Mandibular 26
1620 c GLL042 Galloway-Mowat Syndrome 5 26
1621 NNS134 Non-Syndromic Bicoronal Craniosynostosis 26
1622 c TTR028 Tetraamelia Syndrome 1 26
1623 c CTR105 Cataract 12, Multiple Types 26
1624 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
1625 c OCL081 Oculocutaneous Albinism, Type Viii 26
1626 PRT091 Partial Cryptophthalmia 26
1627 EXP002 Exposure Keratitis 26
1628 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 25
1629 SRP002 Serpiginous Choroiditis 25
1630 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 25
1631 c GLL045 Galloway-Mowat Syndrome 6 25
1632 c SNR005 Senior-Loken Syndrome 5 25
1633 c GLL046 Galloway-Mowat Syndrome 7 25
1634 HRP011 Herpes Zoster Ophthalmicus 25
1635 ARG003 Argyll Robertson Pupil 25
1636 c TTR029 Tetraamelia Syndrome 2 25
1637 c BLP049 Blepharocheilodontic Syndrome 2 25
1638 c GLL041 Galloway-Mowat Syndrome 4 25
1639 c SNR016 Senior-Loken Syndrome 9 25
1640 PRP102 Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development 25
1641 SHP004 Shprintzen Omphalocele Syndrome 24
1642 c GLC054 Glaucoma 3, Primary Congenital, D 24
1643 VSL005 Visual Pathway Disease 24
1644 PRL014 Paralytic Squint 24
1645 ORB007 Orbital Cyst 24
1646 OCL070 Oculopalatocerebral Syndrome 24
1647 ATX037 Ataxia-Deafness-Retardation Syndrome 24
1648 c CTR165 Cataract 19, Multiple Types 24
1649 c CHR093 Chronic Orbital Inflammation 24
1650 MCR220 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 24
1651 c MTC234 Mitochondrial Dna Depletion Syndrome 16b 24
1652 CLB011 Coloboma of Macula with Type B Brachydactyly 23
1653 c CTR162 Cataract 47 23
1654 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 23
1655 c MTC204 Mitochondrial Dna Depletion Syndrome 18 23
1656 CHR158 Charles Bonnet Syndrome 23
1657 c GLL053 Galloway-Mowat Syndrome 10 23
1658 c EPL254 Epilepsy, Progressive Myoclonic, 11 23
1659 c CFF016 Coffin-Siris Syndrome 11 23
1660 c MCR217 Microphthalmia, Syndromic 11 23
1661 PNG001 Pinguecula 23
1662 CCT004 Cicatricial Lagophthalmos 23
1663 c MTC236 Mitochondrial Dna Depletion Syndrome 20 23
1664 c DVL082 Developmental and Epileptic Encephalopathy 58 23
1665 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
1666 ORB019 Orbital Margin, Hypoplasia of 23
1667 THL003 Thelaziasis 23
1668 CTR188 Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy 23
1669 c GLL047 Galloway-Mowat Syndrome 8 23
1670 FLY003 Flynn-Aird Syndrome 23
1671 c HYP867 Hypoparathyroidism, Familial Isolated, 2 23
1672 SCL014 Scleral Staphyloma 23
1673 CTF001 Catifa Syndrome 23
1674 c MYC085 Myoclonic Epilepsy, Juvenile 3 23
1675 CNG357 Congenital Symblepharon 23
1676 CTR027 Cataract-Glaucoma 22
1677 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 22
1678 GRN016 Grant Syndrome 22
1679 c CTR184 Cataract 39, Multiple Types 22
1680 P ATM076 Autoimmune Retinopathy 22
1681 c CHR059 Chronic Endophthalmitis 22
1682 INT392 Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures 22
1683 c STC012 Stickler Syndrome, Type Iv 22
1684 c CTR106 Cataract 20, Multiple Types 22
1685 c MTC182 Mitochondrial Dna Depletion Syndrome 16 22
1686 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 22
1687 c EPL210 Epilepsy, Progressive Myoclonic, 6 22
1688 CMB069 Combined Hamartoma of the Retina and Retinal Pigment Epithelium 22
1689 EXF002 Exfoliative Ichthyosis 22
1690 c RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 22
1691 c KRT075 Keratoconus 9 22
1692 c RNG012 Ring Chromosome 17 22
1693 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
1694 c GLC089 Glaucoma 3, Primary Congenital, E 22
1695 BLN008 Blind Hypotensive Eye 21
1696 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
1697 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 21
1698 OCL043 Oculorenocerebellar Syndrome 21
1699 c EPL217 Epilepsy, Juvenile Myoclonic 10 21
1700 P IDP049 Idiopathic Anterior Uveitis 21
1701 c TRC126 Treacher Collins Syndrome 4 21
1702 c CTR160 Cataract 45 21
1703 c STC020 Stickler Syndrome, Type Vi 21
1704 ACT235 Acute Macular Neuroretinopathy 21
1705 SPS087 Spasmus Nutans 21
1706 c MSC139 Mosaic Variegated Aneuploidy Syndrome 3 21
1707 DRM015 Dermoids of Cornea 21
1708 c CTR144 Cataract 43 21
1709 PHK008 Phakomatosis Cesioflammea 21
1710 SYN149 Syndromic Rod-Cone Dystrophy 21
1711 CRN007 Corneal Staphyloma 21
1712 NCL001 Nuclear Senile Cataract 21
1713 c NGH022 Night Blindness, Congenital Stationary, Type 1g 21
1714 PNC059 Punctate Inner Choroidopathy 21
1715 AMB007 Amoebic Keratitis 21
1716 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
1717 c GLL052 Galloway-Mowat Syndrome 9 20
1718 c EPL257 Epilepsy, Progressive Myoclonic, 12 20
1719 RTC011 Reticular Dystrophy of Retinal Pigment Epithelium 20
1720 c ANR046 Aniridia 3 20
1721 IDP047 Idiopathic Panuveitis 20
1722 MCR381 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 20
1723 c STC011 Stickler Syndrome, Type V 20
1724 ITR001 Iatrogenic Botulism 20
1725 EPD051 Epidermolysis Bullosa Simplex with Anodontia/hypodontia 20
1726 EPB002 Epiblepharon 19
1727 SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 19
1728 CNT088 Central Cloudy Dystrophy of Francois 19
1729 PNH003 Pinheiro Freire-Maia Miranda Syndrome 19
1730 c INF152 Infectious Posterior Uveitis 19
1731 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 19
1732 c TYS005 Tay-Sachs Disease, B1 Variant 19
1733 INH013 Inhalational Botulism 19
1734 c MCR108 Microphthalmia, Isolated 7 19
1735 ACH040 Achoo Syndrome 19
1736 HRD017 Hordeolum Externum 19
1737 PLZ007 Pelizaeus-Merzbacher Disease, Classic Form 18
1738 c KRT040 Keratoconus 3 18
1739 DBL001 Double Pterygium 18
1740 OPT077 Optic Disc Pit 18
1741 HRM026 Hermansky-Pudlak Syndrome Due to Bloc-2 Deficiency 18
1742 c KRT050 Keratoconus 5 18
1743 HRM025 Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency 18
1744 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 17
1745 c CNG596 Congenital Ectropion 17
1746 c SCN003 Secondary Corneal Edema 17
1747 MCR078 Microphthalmia Microtia Fetal Akinesia 17
1748 c KRT052 Keratoconus 6 17
1749 c SX2003 Six2-Related Frontonasal Dysplasia 17
1750 INT008 Intermittent Squint 17
1751 DST082 Distal Trisomy 10q 17
1752 VNB001 Van Benthem-Driessen-Hanveld Syndrome 17
1753 VSP001 Vasoproliferative Tumor of the Retina 17
1754 TRN026 Tranebjaerg Svejgaard Syndrome 17
1755 LVC001 Levic Stefanovic Nikolic Syndrome 17
1756 CNG362 Congenital Trochlear Nerve Palsy 17
1757 CSK001 Cask-Related Disorders 16
1758 PRG115 Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome 16
1759 ECT016 Ectodermal Dysplasia Blindness 16
1760 BNC002 Binocular Vision Disease 16
1761 INT176 Intraocular Medulloepithelioma 16
1762 CNG457 Congenital Oculomotor Nerve Palsy 16
1763 c LTN017 Late-Infantile/juvenile Krabbe Disease 16
1764 NND003 Non-Distal Trisomy 10q 16
1765 CRN324 Corneal Endotheliitis 16
1766 ERL037 Early-Onset Lamellar Cataract 16
1767 c MTC014 Mitochondrial Dna Deletion Syndromes 15
1768 APL011 Aplasia Cutis Myopia 15
1769 MRC008 Mrcs Syndrome 15
1770 c PST110 Posterior Corneal Dystrophy 15
1771 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 15
1772 c KRT054 Keratoconus 8 15
1773 c KRT039 Keratoconus 2 15
1774 NRD176 Neurodegeneration, Childhood-Onset, with Multisystem Involvement Due to Mitochondrial Dysfunction 15
1775 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 15
1776 OLG014 Oligocone Trichromacy 15
1777 c EPL186 Epilepsy, Juvenile Myoclonic 9 15
1778 INF184 Infective Keratitis 15
1779 c ADL101 Adult-Onset Steinert Myotonic Dystrophy 15
1780 P NNN030 Non-Infectious Anterior Uveitis 14
1781 FLC004 Fleck Retina of Kandori 14
1782 CLM004 Climatic Droplet Keratopathy 14
1783 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1784 c CHR665 Choroidal Dystrophy, Central Areolar, 3 14
1785 c GLL043 Galloway-Mowat Syndrome 2 14
1786 c GLC052 Glaucoma 3, Primary Congenital, C 14
1787 NND004 Non-Distal Monosomy 10q 14
1788 SYN112 Syndromic Microphthalmia-Anophthalmia-Coloboma 14
1789 PLZ008 Pelizaeus-Merzbacher Disease, Transitional Form 14
1790 SPP006 Suppurative Uveitis 13
1791 c KRT041 Keratoconus 4 13
1792 c NDP001 Ndp-Related Retinopathies 13
1793 SPS186 Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome 13
1794 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 13
1795 MLT143 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 13
1796 ODN004 Odonto Onycho Dysplasia with Alopecia 13
1797 EVR001 Eversion of Lacrimal Punctum 12
1798 SYN120 Syndromic Oculocutaneous Albinism 12
1799 SPS184 Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome 12
1800 c HLL012 Hallermann-Streiff-Like Syndrome 12
1801 TRR003 Terrien Marginal Degeneration 11
1802 ISL128 Isolated Microspherophakia 11
1803 c IDP048 Idiopathic Posterior Uveitis 11
1804 NRP069 Neuro-Ophthalmological Disease 11
1805 ISL065 Isolated Congenital Alacrima 10
1806 c RRC027 Rare Corneal Disorder 10
1807 c MSC205 Mosaic Variegated Aneuploidy Syndrome 4 10
1808 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 9
1809 CNG458 Congenital Abducens Nerve Palsy 9
1810 MCH015 Machado-Joseph Disease and Spinocerebellar Ataxia 9
1811 FND005 Fundus Pulverulentus 9
1812 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 8
1813 c RRR006 Rare Retinal Disorder 8
1814 CNJ008 Conjunctival Concretion 7
1815 PRS018 Parasitic Eyelid Infestation 7
1816 c TXC018 Toxic Maculopathy Due to Antimalarial Drugs 7
1817 RRD062 Rare Disorder with Lens Opacification 7
1818 c JVN062 Juvenile-Onset Steinert Myotonic Dystrophy 6
1819 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 6
1820 NLX005 Neu-Laxova Syndrome Due to Phosphoserine Aminotransferase Deficiency 6
1821 NRL040 Neurological Complications of Lyme Disease 6
1822 PFF003 Pfeiffer Mayer Syndrome 6
1823 ATS361 Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome 6
1824 LNS008 Lens Position Anomaly 5
1825 c SCN083 Secondary Early-Onset Glaucoma 5
1826 ERL027 Early-Onset Non-Syndromic Cataract 5
1827 ANT015 Anatomical Narrow Angle Borderline Glaucoma 5
1828 c PRM303 Primary Early-Onset Glaucoma 5
1829 SYN152 Syndromic Keratoconus 5
1830 CNG588 Congenital Optic Disc Excavation 5
1831 ACT252 Acute Disseminated Encephalomyelitis with Anti-Mog Antibodies 5
1832 c SYS074 Systemic Diseases with Anterior Uveitis 5
1833 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 5
1834 c GLC029 Glaucoma Type 1c 5
1835 ISL126 Isolated Iridoschisis 5
1836 c GLC033 Glaucoma, Hereditary Adult Type 1a 5
1837 c GLC035 Glaucoma, Primary Infantile Type 3a 5
1838 c FRG006 Fragile X Syndrome Type 3 4
1839 c FRG004 Fragile X Syndrome Type 1 4
1840 c FRG005 Fragile X Syndrome Type 2 4
1841 PRN060 Paraneoplastic Uveitis 4
1842 PDT047 Pediatric-Onset Glaucoma 4
1843 SYN128 Syndromic Macular Dystrophy 4
1844 IDP050 Idiopathic Linear Interstitial Keratitis 4
1845 CNG597 Congenital Malformation of the Eyelid 4
1846 SYN154 Syndromic Disorder with Strabismus 4
1847 c RRD045 Rare Disorder with Ectropion 4
1848 ANT094 Anterior Segment Developmental Anomaly Without Extraocular Manifestations 4
1849 c SYS076 Systemic Diseases with Posterior Uveitis 4
1850 c RRD064 Rare Disorder with Strabismus 4
1851 P ISL148 Isolated Inherited Retinal Disorder 4
1852 RRR012 Rare Refraction Anomaly 4
1853 c RRN016 Rare Inflammatory/autoimmune Corneal Disorder 4
1854 SYN125 Syndromic Vitreoretinopathy 4
1855 CRB216 Cerebellar Hyplasia/atrophy, Epilepsy, and Global Developmental Delay 4
1856 RRC024 Rare Ocular Motility/alignment Disorder 3
1857 RRP023 Rare Ophthalmic Disorder with Cortical Involvement 3
1858 RRC025 Rare Choroidal Disorder 3
1859 RRH031 Rare Hyperopia and Astigmatism 3
1860 RRD063 Rare Disease with Glaucoma As a Major Feature 3
1861 RNL124 Renal Disease with Cataract 3
1862 MSC198 Musculoskeletal Disease with Cataract 3
1863 CRN312 Craniofacial Anomaly with Cataract 3
1864 DNT052 Dentocutaneous Disease with Cataract 3
1865 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 34
1866 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 32
1867 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 33
1868 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 34
1869 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 33
1870 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 30
1871 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 29
1872 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 29
1873 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 29
1874 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
1875 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 32
1876 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 29
1877 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 27
1878 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 22
1879 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
1880 NSC005 Nescav Syndrome 45
1881 NRD057 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 30
1882 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 27
1883 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 22
1884 P WRD001 Waardenburg's Syndrome 57
1885 PBL005 Piebald Trait 59
1886 CRP032 Corpus Callosum, Agenesis of 55
1887 MYP086 Myopathy with Extrapyramidal Signs 47
1888 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 17
1889 NRD177 Neurodevelopmental Disorder with Eye Movement Abnormalities and Ataxia 17
1890 P MLN008 Melanoma 74
1891 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 69
1892 P CHR071 Charcot-Marie-Tooth Disease 64
1893 PPL058 Papilloma of Choroid Plexus 55
1894 HMN009 Hemangioblastoma 54
1895 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 51
1896 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 51
1897 SPN060 Spondylocarpotarsal Synostosis Syndrome 50
1898 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 50
1899 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 50
1900 c PRM226 Primary Central Nervous System Lymphoma 49
1901 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 49
1902 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 49
1903 CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 49
1904 P CNT005 Central Nervous System Lymphoma 49
1905 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 47
1906 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 46
1907 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 46
1908 CNT019 Central Neurocytoma 44
1909 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 43
1910 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41
1911 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 40
1912 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 40
1913 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 37
1914 c HRD223 Hereditary Melanoma 37
1915 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 37
1916 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 37
1917 P KRT014 Keratosis Follicularis Spinulosa Decalvans 35
1918 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 35
1919 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 34
1920 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 34
1921 c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 31
1922 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 29
1923 c CHR026 Charcot-Marie-Tooth Disease Type X 28
1924 c CHR701 Charcot-Marie-Tooth Disease Type 1g 26
1925 c CHR700 Charcot-Marie-Tooth Disease Type 2a2b 26
1926 c CHR717 Charcot-Marie-Tooth Disease Dominant Intermediate a 25
1927 NRD099 Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity 25
1928 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 25
1929 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 25
1930 c CHR571 Charcot-Marie-Tooth Disease Type 5 23
1931 CHR730 Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsiv 23
1932 RCH010 Richieri-Costa/guion-Almeida Syndrome 22
1933 DRM042 Dermatoosteolysis, Kirghizian Type 22
1934 c CHR135 Charcot-Marie-Tooth Disease Type 2a 19
1935 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 15
1936 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
1937 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 12
1938 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 8
1939 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 8
1940 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 7
1941 c CHR572 Charcot-Marie-Tooth Disease Type 7 5
1942 P PRK057 Parkinson Disease, Late-Onset 81
1943 SCH036 Scheie Syndrome 75
1944 P MYT021 Myotonic Dystrophy 1 74
1945 WLS001 Wilson Disease 72
1946 P SRC025 Sarcoidosis 1 71
1947 c NMN015 Niemann-Pick Disease, Type C1 71
1948 P TYS001 Tay-Sachs Disease 71
1949 DWN001 Down Syndrome 71
1950 c GCH015 Gaucher Disease, Type I 70
1951 P DYS007 Dyskeratosis Congenita 69
1952 c MCL062 Mucolipidosis Ii Alpha/beta 69
1953 CHD001 Chediak-Higashi Syndrome 69
1954 c HRD010 Hereditary Spastic Paraplegia 68
1955 P MCK013 Meckel Syndrome, Type 1 67
1956 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 67
1957 P ALP004 Alport Syndrome 67
1958 KRT019 Keratitis, Hereditary 67
1959 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
1960 P CCK001 Cockayne Syndrome 67
1961 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 67
1962 P HLP001 Holoprosencephaly 66
1963 P CNJ013 Conjunctivitis 66
1964 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 66
1965 c MCL013 Mucolipidosis Iv 66
1966 CRZ001 Crouzon Syndrome 65
1967 SPT006 Septooptic Dysplasia 65
1968 BLS001 Blau Syndrome 64
1969 INT323 Intraocular Pressure Quantitative Trait Locus 64
1970 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
1971 P ATS308 Autosomal Dominant Cerebellar Ataxia 64
1972 P PRT008 Proteus Syndrome 63
1973 P SHR029 Short Syndrome 63
1974 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 63
1975 NRR002 Norrie Disease 62
1976 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 62
1977 c NMN016 Niemann-Pick Disease, Type B 62
1978 NRM001 Neuromyelitis Optica 62
1979 VTR013 Vitreoretinopathy, Neovascular Inflammatory 62
1980 c DVL042 Developmental and Epileptic Encephalopathy 14 62
1981 P NPH005 Nephronophthisis 62
1982 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 61
1983 c DVL030 Developmental and Epileptic Encephalopathy 36 61
1984 MRS002 Marshall Syndrome 61
1985 P STS001 Sotos Syndrome 61
1986 P ACH003 Achromatopsia 60
1987 P RTN209 Retinoschisis 1, X-Linked, Juvenile 60
1988 RTN017 Retinal Detachment 60
1989 P NMN002 Niemann-Pick Disease 60
1990 P MCR010 Microcephaly 59
1991 c MCR241 Microphthalmia, Syndromic 3 59
1992 c WLF013 Wolfram Syndrome 1 59
1993 CRN005 Craniofrontonasal Syndrome 59
1994 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
1995 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 59
1996 ENH001 Enhanced S-Cone Syndrome 59
1997 c CCK008 Cockayne Syndrome a 58
1998 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 58
1999 c OST080 Osteogenesis Imperfecta, Type Ii 58
2000 P ISL078 Isolated Ectopia Lentis 58
2001 P KHL003 Kohlschutter-Tonz Syndrome 57
2002 P WLF004 Wolfram Syndrome 57
2003 BRN004 Brain Edema 57
2004 P OPT009 Optic Neuritis 57
2005 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
2006 c DVL033 Developmental and Epileptic Encephalopathy 1 57
2007 P JNC001 Junctional Epidermolysis Bullosa 57
2008 c MCL046 Mucolipidosis Iii Alpha/beta 57
2009 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 56
2010 P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 56
2011 c HLP023 Holoprosencephaly 1 56
2012 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 56
2013 c SPN291 Spinocerebellar Ataxia 7 55
2014 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 55
2015 c MCP046 Mucopolysaccharidosis, Type Iiid 55
2016 LKC005 Leukocyte Adhesion Deficiency, Type Iii 55
2017 P FML052 Familial Cold Autoinflammatory Syndrome 55
2018 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 55
2019 P WLL002 Weill-Marchesani Syndrome 55
2020 CCT002 Cicatricial Pemphigoid 55
2021 P PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 54
2022 NVS001 Neovascular Glaucoma 54
2023 c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 54
2024 c DVL038 Developmental and Epileptic Encephalopathy 7 54
2025 P NRC002 Narcolepsy 54
2026 P SPN429 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 54
2027 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 54
2028 GLL028 Gillespie Syndrome 54
2029 c EPD115 Epidermolysis Bullosa, Junctional 1b, Severe 54
2030 c OST121 Osteogenesis Imperfecta, Type Iv 54
2031 c NRC009 Narcolepsy 1 54
2032 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 53
2033 c USH038 Usher Syndrome, Type Iiia 53
2034 P PTS002 Ptosis 53
2035 c PNT034 Pontocerebellar Hypoplasia, Type 2e 53
2036 P OPN001 Open-Angle Glaucoma 53
2037 c DVL029 Developmental and Epileptic Encephalopathy 2 53
2038 c NMN014 Niemann-Pick Disease, Type C2 53
2039 c PNT057 Pontocerebellar Hypoplasia, Type 1e 52
2040 OCL006 Ocular Hypertension 52
2041 c DVL027 Developmental and Epileptic Encephalopathy 9 52
2042 c MCL066 Macular Dystrophy, Vitelliform, 2 52
2043 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 52
2044 WLF002 Wolf-Hirschhorn Syndrome 52
2045 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
2046 c HLP026 Holoprosencephaly 3 52
2047 ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 52
2048 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 52
2049 P DVL113 Developmental and Epileptic Encephalopathy 51
2050 c EPD114 Epidermolysis Bullosa, Junctional 1a, Intermediate 51
2051 c PRM031 Primary Autosomal Recessive Microcephaly 51
2052 c MCR263 Microphthalmia, Syndromic 1 51
2053 c HRD026 Hereditary Ataxia 51
2054 KRT006 Keratoconjunctivitis 51
2055 P NLX004 Neu-Laxova Syndrome 1 51
2056 c PRG059 Progressive Cone Dystrophy 51
2057 P CRN025 Corneal Dystrophy 51
2058 P MTH008 Methylmalonic Acidemia 51
2059 P CLR019 Color Blindness 51
2060 c HRD173 Hereditary Late-Onset Parkinson Disease 51
2061 BRD025 Birdshot Chorioretinopathy 51
2062 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 51
2063 c PRK085 Parkinson Disease 1, Autosomal Dominant 51
2064 c CNG513 Congenital Ptosis 51
2065 c MGR032 Migraine, Familial Hemiplegic, 1 51
2066 c FML253 Familial Cold Autoinflammatory Syndrome 3 51
2067 P PNV001 Panuveitis 51
2068 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 50
2069 c HLP025 Holoprosencephaly 9 50
2070 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 50
2071 c USH040 Usher Syndrome, Type Id 50
2072 NRN005 Neuronal Ceroid-Lipofuscinoses 50
2073 c INT483 Intellectual Developmental Disorder, Autosomal Dominant 1 50
2074 c ATS307 Autosomal Recessive Cerebellar Ataxia 50
2075 c DVL041 Developmental and Epileptic Encephalopathy 13 50
2076 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
2077 BNB002 Bainbridge-Ropers Syndrome 50
2078 c SRC023 Sarcoidosis 2 50
2079 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 50
2080 c HRD227 Hereditary Spastic Paraplegia 35 50
2081 P KRT007 Keratoconus 50
2082 P MCL001 Mucolipidosis 50
2083 c PNT049 Pontocerebellar Hypoplasia, Type 2d 50
2084 c HNT004 Huntington Disease-Like 2 49
2085 c MCL016 Mucolipidosis Iii Gamma 49
2086 IRD001 Iridocyclitis 49
2087 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 49
2088 P SPS133 Spastic Paraplegia 2, X-Linked 49
2089 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 49
2090 c CHR095 Chronic Progressive External Ophthalmoplegia 49
2091 c JVN041 Juvenile Nephronophthisis 49
2092 c HYP575 Hypotrichosis 7 49
2093 KRT001 Keratoconjunctivitis Sicca 49
2094 c MGR030 Migraine, Familial Hemiplegic, 2 49
2095 c NPH019 Nephronophthisis 1 49
2096 MGL003 Megalocornea 49
2097 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 49
2098 CRN049 Craniolenticulosutural Dysplasia 48
2099 P RTN014 Retinal Artery Occlusion 48
2100 P SCL015 Scleritis 48
2101 CRN027 Corneal Neovascularization 48
2102 BLC001 Blue Cone Monochromacy 48
2103 c PNT036 Pontocerebellar Hypoplasia, Type 6 48
2104 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 48
2105 c PRK071 Parkinson Disease 14, Autosomal Recessive 48
2106 c NPH030 Nephronophthisis 2 48
2107 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48
2108 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 48
2109 c MGR031 Migraine, Familial Hemiplegic, 3 48
2110 CRY008 Cryopyrin-Associated Periodic Syndrome 48
2111 c MCK032 Meckel Syndrome, Type 3 47
2112 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
2113 c MCK033 Meckel Syndrome, Type 4 47
2114 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 47
2115 c HLP027 Holoprosencephaly 7 47
2116 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 47
2117 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 47
2118 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 47
2119 c MCK031 Meckel Syndrome, Type 2 47
2120 c NPH032 Nephronophthisis 4 47
2121 c DVL035 Developmental and Epileptic Encephalopathy 4 47
2122 c CRN241 Corneal Dystrophy, Congenital Stromal 47
2123 ALN001 Aland Island Eye Disease 47
2124 MLG142 Malignant Conjunctival Melanoma 47
2125 PRS012 Pars Planitis 47
2126 c FML117 Familial Cold Autoinflammatory Syndrome 2 47
2127 c PNT018 Pontocerebellar Hypoplasia, Type 1b 47
2128 c WRD024 Waardenburg Syndrome, Type 4c 47
2129 c WRD031 Waardenburg Syndrome, Type 3 46
2130 c MCK030 Meckel Syndrome, Type 7 46
2131 RTN001 Retinal Vasculitis 46
2132 P PNT019 Pontocerebellar Hypoplasia 46
2133 AYM001 Ayme-Gripp Syndrome 46
2134 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 46
2135 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 46
2136 c XLN229 X-Linked Chondrodysplasia Punctata 2 46
2137 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 46
2138 CLB026 Colobomatous Microphthalmia 46
2139 c MCL060 Macular Dystrophy, Vitelliform, 3 46
2140 c HNT010 Huntington Disease-Like 1 46
2141 c INT520 Intellectual Developmental Disorder, Autosomal Dominant 7 46
2142 c PNT043 Pontocerebellar Hypoplasia, Type 4 46
2143 c MCK014 Meckel Syndrome, Type 5 46
2144 c DVL118 Developmental and Epileptic Encephalopathy 94 46
2145 c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 46
2146 RTN002 Retinal Perforation 45
2147 c USH041 Usher Syndrome, Type if 45
2148 c HLP016 Holoprosencephaly 11 45
2149 CRN045 Corneal Dystrophy and Perceptive Deafness 45
2150 c PRK065 Parkinson Disease 20, Early-Onset 45
2151 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 45
2152 c MCK012 Meckel Syndrome, Type 6 45
2153 c DVL048 Developmental and Epileptic Encephalopathy 21 45
2154 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 45
2155 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 45
2156 GLT018 Glut1 Deficiency Syndrome 1 45
2157 ANG062 Angioosteohypertrophic Syndrome 45
2158 c DVL039 Developmental and Epileptic Encephalopathy 11 45
2159 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 45
2160 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 45
2161 c PNT045 Pontocerebellar Hypoplasia, Type 1a 45
2162 INF006 Infant Botulism 45
2163 DBT090 Diabetes and Deafness, Maternally Inherited 45
2164 PGM007 Pigmented Paravenous Chorioretinal Atrophy 45
2165 c HRD220 Hereditary Spastic Paraplegia 30 45
2166 c NPH053 Nephronophthisis 11 45
2167 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44
2168 c NPH075 Nephronophthisis 18 44
2169 c PRK093 Parkinson Disease 8, Autosomal Dominant 44
2170 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 44
2171 CRN247 Corneal Dystrophy, Thiel-Behnke Type 44
2172 c USH021 Usher Syndrome, Type Iid 44
2173 c HLP029 Holoprosencephaly 4 44
2174 c NPH069 Nephronophthisis 15 44
2175 SLW006 Saul-Wilson Syndrome 44
2176 RTN021 Retinal Vascular Occlusion 44
2177 P BLP003 Blepharospasm 44
2178 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 44
2179 c DVL056 Developmental and Epileptic Encephalopathy 30 44
2180 c NPH071 Nephronophthisis 14 44
2181 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 44
2182 c DVL068 Developmental and Epileptic Encephalopathy 43 44
2183 STR094 Stromme Syndrome 44
2184 c SHR030 Short Qt Syndrome 44
2185 c PNT044 Pontocerebellar Hypoplasia, Type 2a 44
2186 c WLL036 Weill-Marchesani Syndrome 1 44
2187 c PNT032 Pontocerebellar Hypoplasia, Type 9 44
2188 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 44
2189 CRB159 Cerebral Visual Impairment 44
2190 c ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 43
2191 c DVL099 Developmental and Epileptic Encephalopathy 75 43
2192 c USH042 Usher Syndrome, Type Ig 43
2193 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 43
2194 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
2195 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 43
2196 c WRB004 Warburg Micro Syndrome 3 43
2197 c CNT028 Central Retinal Artery Occlusion 43
2198 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 43
2199 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
2200 c PRK052 Parkinson Disease 17 43
2201 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 43
2202 c PNT051 Pontocerebellar Hypoplasia, Type 1d 43
2203 c BRD017 Bardet-Biedl Syndrome 5 43
2204 c NPH068 Nephronophthisis 16 43
2205 c NLX003 Neu-Laxova Syndrome 2 43
2206 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 43
2207 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 43
2208 c INT548 Intellectual Developmental Disorder, Autosomal Dominant 36 43
2209 c DVL067 Developmental and Epileptic Encephalopathy 42 43
2210 c DVL044 Developmental and Epileptic Encephalopathy 16 43
2211 CHR211 Chromosome 18p Deletion Syndrome 43
2212 c DVL077 Developmental and Epileptic Encephalopathy 53 42
2213 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 42
2214 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 42
2215 c NPH031 Nephronophthisis 3 42
2216 c BCT006 Bacterial Conjunctivitis 42
2217 c NPH035 Nephronophthisis 9 42
2218 c INT538 Intellectual Developmental Disorder, Autosomal Dominant 23 42
2219 c ALP105 Alport Syndrome 2, Autosomal Recessive 42
2220 c NPH077 Nephronophthisis 19 42
2221 c ALP104 Alport Syndrome 3, Autosomal Dominant 42
2222 c LBR011 Leber Congenital Amaurosis 16 42
2223 c DVL076 Developmental and Epileptic Encephalopathy 52 42
2224 PRS025 Presbyopia 42
2225 c DVL037 Developmental and Epileptic Encephalopathy 5 42
2226 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 42
2227 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 42
2228 c DVL049 Developmental and Epileptic Encephalopathy 23 42
2229 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 42
2230 CRN106 Corneal Dystrophy, Gelatinous Drop-Like 42
2231 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 42
2232 c DVL062 Developmental and Epileptic Encephalopathy 35 42
2233 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 41
2234 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 41
2235 c ALB024 Albinism, Ocular, Type I 41
2236 c PNT035 Pontocerebellar Hypoplasia, Type 1c 41
2237 HMC030 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 41
2238 c NRC010 Narcolepsy 2 41
2239 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 41
2240 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
2241 c PRK091 Parkinson Disease 4, Autosomal Dominant 41
2242 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 41
2243 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 41
2244 c WLF009 Wolfram Syndrome 2 41
2245 c DVL072 Developmental and Epileptic Encephalopathy 47 41
2246 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 41
2247 ORB012 Orbital Cancer 41
2248 c PNT039 Pontocerebellar Hypoplasia, Type 7 41
2249 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 41
2250 c HLP028 Holoprosencephaly 5 40
2251 c FML294 Familial Short Qt Syndrome 40
2252 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 40
2253 FLC002 Fleck Retina, Familial Benign 40
2254 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 40
2255 P KNB001 Knobloch Syndrome 40
2256 CRN141 Corneal Dystrophy, Reis-Bucklers Type 40
2257 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 40
2258 c DVL100 Developmental and Epileptic Encephalopathy 76 40
2259 P CNG024 Congenital Nystagmus 40
2260 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 40
2261 c BLP048 Blepharospasm, Benign Essential 40
2262 BLP004 Blepharophimosis 40
2263 c DVL045 Developmental and Epileptic Encephalopathy 17 40
2264 WGN007 Wagner Vitreoretinopathy 39
2265 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 39
2266 EPD117 Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous 39
2267 c INT539 Intellectual Developmental Disorder, Autosomal Dominant 26 39
2268 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 39
2269 DFN256 Deafness and Myopia 39
2270 TRP014 Triploidy 39
2271 c PRM212 Primary Microcephaly 39
2272 c DVL034 Developmental and Epileptic Encephalopathy 3 39
2273 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 39
2274 c DVL061 Developmental and Epileptic Encephalopathy 34 39
2275 c DVL098 Developmental and Epileptic Encephalopathy 74 39
2276 c INT536 Intellectual Developmental Disorder, Autosomal Dominant 21 39
2277 c PRK090 Parkinson Disease 3, Autosomal Dominant 39
2278 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 39
2279 BTH002 Bothnia Retinal Dystrophy 39
2280 c DVL052 Developmental and Epileptic Encephalopathy 26 39
2281 c DVL028 Developmental and Epileptic Encephalopathy 8 39
2282 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 39
2283 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 39
2284 c INT533 Intellectual Developmental Disorder, Autosomal Dominant 13 39
2285 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 39
2286 c DVL040 Developmental and Epileptic Encephalopathy 12 39
2287 SNL007 Senile Cataract 39
2288 c DVL103 Developmental and Epileptic Encephalopathy 80 39
2289 PRM056 Primrose Syndrome 38
2290 c DVL073 Developmental and Epileptic Encephalopathy 48 38
2291 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 38
2292 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 38
2293 P ENT005 Entropion 38
2294 c MCK034 Meckel Syndrome, Type 8 38
2295 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 38
2296 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
2297 c DVL109 Developmental and Epileptic Encephalopathy 87 38
2298 c CRN236 Corneal Dystrophy, Lattice Type I 38
2299 c DVL060 Developmental and Epileptic Encephalopathy 50 38
2300 c DVL053 Developmental and Epileptic Encephalopathy 27 38
2301 c NPH033 Nephronophthisis 7 38
2302 SPN446 Spondylometaphyseal Dysplasia with Corneal Dystrophy 38
2303 c PNT050 Pontocerebellar Hypoplasia, Type 11 38
2304 CMB018 Combined Oxidative Phosphorylation Deficiency 7 38
2305 c DVL043 Developmental and Epileptic Encephalopathy 15 38
2306 OCL066 Oculogyric Crisis 38
2307 c ATS282 Autosomal Recessive Malignant Osteopetrosis 38
2308 c ERL056 Early-Onset Parkinson's Disease 38
2309 c ATS525 Autosomal Dominant Intellectual Developmental Disorder 8 38
2310 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 37
2311 c INT542 Intellectual Developmental Disorder, Autosomal Dominant 29 37
2312 c SPN430 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 37
2313 c HLP024 Holoprosencephaly 2 37
2314 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 37
2315 c INT516 Intellectual Developmental Disorder, Autosomal Dominant 5 37
2316 c INT547 Intellectual Developmental Disorder, Autosomal Dominant 35 37
2317 c XLN227 X-Linked Chondrodysplasia Punctata 1 37
2318 P SCL013 Scleral Disease 37
2319 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 37
2320 c MCR329 Microcephaly, Autosomal Dominant 37
2321 DST033 Distichiasis 37
2322 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 37
2323 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
2324 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37
2325 c DVL050 Developmental and Epileptic Encephalopathy 24 37
2326 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 37
2327 c DVL078 Developmental and Epileptic Encephalopathy 54 36
2328 P SCL047 Sclerocornea 36
2329 c EPD123 Epidermolysis Bullosa, Junctional 4, Intermediate 36
2330 HMM004 Hamamy Syndrome 36
2331 c DVL079 Developmental and Epileptic Encephalopathy 55 36
2332 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 36
2333 c INT513 Intellectual Developmental Disorder, Autosomal Dominant 22 36
2334 c DVL069 Developmental and Epileptic Encephalopathy 44 36
2335 P HRD217 Hereditary Optic Neuropathy 36
2336 c FML270 Familial Cold Autoinflammatory Syndrome 4 36
2337 SPN331 Spondyloocular Syndrome 36
2338 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 36
2339 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 36
2340 ACT012 Acute Hemorrhagic Conjunctivitis 36
2341 c INT453 Intellectual Developmental Disorder, Autosomal Dominant 42 36
2342 c LBR029 Leber Congenital Amaurosis 17 36
2343 c DVL097 Developmental and Epileptic Encephalopathy 73 36
2344 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 36
2345 c MCR109 Microphthalmia, Isolated 4 36
2346 c ALG016 Alagille Syndrome 2 36
2347 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 36
2348 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 36
2349 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 36
2350 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35
2351 c PRK070 Parkinson Disease 21 35
2352 c INT455 Intellectual Developmental Disorder, Autosomal Dominant 56 35
2353 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 35
2354 c NPH086 Nephronophthisis 20 35
2355 MBM001 Meibomian Cyst 35
2356 c HRD229 Hereditary Spastic Paraplegia 56 35
2357 c SPS092 Spastic Paraplegia 11 35
2358 PNC012 Punctate Epithelial Keratoconjunctivitis 35
2359 c HNT011 Huntington Disease-Like 3 35
2360 MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 35
2361 PRL018 Purulent Endophthalmitis 34
2362 ICH066 Ichthyosis--Cheek--Eyebrow Syndrome 34
2363 c PNT052 Pontocerebellar Hypoplasia, Type 12 34
2364 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 34
2365 c DVL054 Developmental and Epileptic Encephalopathy 28 34
2366 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 34
2367 OCL034 Oculocerebrocutaneous Syndrome 34
2368 c INF147 Infantile Nephronophthisis 34
2369 c ATS076 Autosomal Recessive Stickler Syndrome 34
2370 c ANT023 Anterior Scleritis 34
2371 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 34
2372 c DVL059 Developmental and Epileptic Encephalopathy 33 34
2373 c DVL090 Developmental and Epileptic Encephalopathy 66 34
2374 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 34
2375 c DVL057 Developmental and Epileptic Encephalopathy 31 34
2376 c USH031 Usher Syndrome, Type Ij 34
2377 c PNT030 Pontocerebellar Hypoplasia, Type 8 34
2378 c PNT042 Pontocerebellar Hypoplasia, Type 2f 34
2379 P SPS012 Spastic Paraplegia 3a 34
2380 c PST008 Posterior Scleritis 34
2381 c INT550 Intellectual Developmental Disorder, Autosomal Dominant 41 34
2382 NRT011 Neurotrophic Keratopathy 33
2383 c HRD226 Hereditary Spastic Paraplegia 49 33
2384 CNJ001 Conjugate Gaze Palsy 33
2385 c DVL089 Developmental and Epileptic Encephalopathy 65 33
2386 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 33
2387 c MCL070 Macular Dystrophy, Patterned, 3 33
2388 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
2389 DGN003 Degeneration of Macula and Posterior Pole 33
2390 FML292 Familial Drusen 33
2391 CLS047 Classic Progressive Supranuclear Palsy Syndrome 33
2392 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 33
2393 CHR386 Chromosome 6pter-P24 Deletion Syndrome 33
2394 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 33
2395 c DVL084 Developmental and Epileptic Encephalopathy 60 33
2396 c INT514 Intellectual Developmental Disorder, Autosomal Dominant 3 32
2397 P JVN042 Juvenile Retinoschisis 32
2398 P LTT001 Lattice Corneal Dystrophy 32
2399 c TRC073 Treacher Collins Syndrome 2 32
2400 c INT551 Intellectual Developmental Disorder, Autosomal Dominant 43 32
2401 P FXG001 Foxg1 Syndrome 32
2402 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 32
2403 c DVL046 Developmental and Epileptic Encephalopathy 18 32
2404 c INT557 Intellectual Developmental Disorder, Autosomal Dominant 48 32
2405 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 32
2406 MCH006 Mechanical Strabismus 31
2407 c DVL129 Developmental and Epileptic Encephalopathy 25 31
2408 NPH018 Nephrogenic Systemic Fibrosis 31
2409 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 31
2410 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 31
2411 P FRT001 Fourth Cranial Nerve Palsy 31
2412 c SPS243 Spastic Paraplegia 85, Autosomal Recessive 31
2413 KRN001 Korean Hemorrhagic Fever 31
2414 c STS008 Sotos Syndrome 1 31
2415 c DVL119 Developmental and Epileptic Encephalopathy 6b 31
2416 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 31
2417 c INT507 Intellectual Developmental Disorder, Autosomal Recessive 5 31
2418 P RRT020 Rare Tumor 31
2419 c DYS040 Dyskeratosis Congenita Autosomal Recessive 31
2420 c CCK004 Cockayne Syndrome Type Iii 31
2421 P ATS522 Autosomal Dominant Intellectual Developmental Disorder 31
2422 c PNT059 Pontocerebellar Hypoplasia, Type 16 31
2423 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 31
2424 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 31
2425 c DVL114 Developmental and Epileptic Encephalopathy 91 31
2426 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31
2427 STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 30
2428 c ALB017 Albinism, Oculocutaneous, Type Vi 30
2429 c OPT023 Optic Atrophy 2 30
2430 CHR270 Chromosome 9p Duplication 30
2431 P CRN249 Cornea Plana 30
2432 CHR167 Chorioretinal Atrophy, Progressive Bifocal 30
2433 c HLP021 Holoprosencephaly 6 30
2434 P FVL008 Foveal Hypoplasia 2 30
2435 c INT555 Intellectual Developmental Disorder, Autosomal Dominant 46 30
2436 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 30
2437 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 30
2438 c INT549 Intellectual Developmental Disorder, Autosomal Dominant 38 30
2439 c INT537 Intellectual Developmental Disorder, Autosomal Recessive 41 30
2440 c PRT063 Proteus-Like Syndrome 30
2441 c DVL063 Developmental and Epileptic Encephalopathy 37 30
2442 SNC001 Sunct Headache 30
2443 c DVL107 Developmental and Epileptic Encephalopathy 84 30
2444 c PRK081 Parkinson Disease 19a, Juvenile-Onset 30
2445 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 30
2446 c SPS244 Spastic Paraplegia 86, Autosomal Recessive 30
2447 PHC006 Phacomatosis Pigmentovascularis 30
2448 c SHR032 Short Qt Syndrome 2 30
2449 P HRD022 Hordeolum 30
2450 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
2451 c INT472 Intellectual Developmental Disorder, Autosomal Recessive 39 29
2452 c SHR033 Short Qt Syndrome 3 29
2453 PTT063 Pattern Dystrophy 29
2454 HRL006 Harel-Yoon Syndrome 29
2455 c PNT056 Pontocerebellar Hypoplasia, Type 15 29
2456 c INT546 Intellectual Developmental Disorder, Autosomal Dominant 33 29
2457 c ATS526 Autosomal Dominant Intellectual Developmental Disorder 19 29
2458 c HRD186 Hereditary Spastic Paraplegia 51 29
2459 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 29
2460 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
2461 c INT556 Intellectual Developmental Disorder, Autosomal Dominant 47 29
2462 c SPS242 Spastic Paraplegia 84, Autosomal Recessive 29
2463 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
2464 c INT521 Intellectual Developmental Disorder, Autosomal Dominant 2 29
2465 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 29
2466 CHS002 Chiasmal Syndrome 29
2467 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 29
2468 c FML306 Familial or Sporadic Hemiplegic Migraine 29
2469 c INT505 Intellectual Developmental Disorder, Autosomal Recessive 2 29
2470 c HRD188 Hereditary Spastic Paraplegia 72 29
2471 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 29
2472 IGG009 Igg4-Related Ophthalmic Disease 29
2473 c SPS091 Spastic Paraplegia 4 29
2474 CNJ005 Conjunctival Vascular Disease 29
2475 DMD001 Demodicidosis 29
2476 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 29
2477 ACT120 Acute Zonal Occult Outer Retinopathy 28
2478 CRN128 Corneal Dystrophy, Endothelial, X-Linked 28
2479 CHR707 Chromosome 13q33-Q34 Deletion Syndrome 28
2480 c DVL080 Developmental and Epileptic Encephalopathy 56 28
2481 c DVL058 Developmental and Epileptic Encephalopathy 32 28
2482 c JVN015 Juvenile Huntington Disease 28
2483 GNT004 Gnathomiasis 28
2484 c SPS013 Spastic Paraplegia 8 28
2485 MRN002 Mooren's Ulcer 28
2486 SPS209 Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy 28
2487 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 28
2488 ACT038 Acute Retrobulbar Neuritis 28
2489 c MCK035 Meckel Syndrome, Type 10 28
2490 c SNR007 Senior-Loken Syndrome 7 28
2491 c DVL071 Developmental and Epileptic Encephalopathy 46 28
2492 c INT560 Intellectual Developmental Disorder, Autosomal Dominant 52 28
2493 c USH045 Usher Syndrome, Type Iv 28
2494 c NPH065 Nephronophthisis 13 28
2495 c PNT047 Pontocerebellar Hypoplasia, Type 2b 28
2496 c INT460 Intellectual Developmental Disorder, Autosomal Recessive 38 28
2497 c INT554 Intellectual Developmental Disorder, Autosomal Dominant 45 28
2498 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 28
2499 P NNT006 Neonatal Myasthenia Gravis 28
2500 c ATS527 Autosomal Dominant Intellectual Developmental Disorder 31 28
2501 c DVL112 Developmental and Epileptic Encephalopathy 89 28
2502 c INT566 Intellectual Developmental Disorder, Autosomal Dominant 58 27
2503 BLP001 Blepharochalasis 27
2504 FNG016 Fungal Keratitis 27
2505 c MCK020 Meckel Syndrome, Type 11 27
2506 c PRK083 Parkinson Disease 22, Autosomal Dominant 27
2507 c SHR031 Short Qt Syndrome 1 27
2508 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 27
2509 c INT475 Intellectual Developmental Disorder, Autosomal Dominant 39 27
2510 P PST016 Posterior Polar Cataract 27
2511 SPN033 Spontaneous Ocular Nystagmus 27
2512 c INT562 Intellectual Developmental Disorder, Autosomal Dominant 54 27
2513 INT337 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 27
2514 c INT563 Intellectual Developmental Disorder, Autosomal Dominant 57 27
2515 c DVL066 Developmental and Epileptic Encephalopathy 41 27
2516 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
2517 c DVL094 Developmental and Epileptic Encephalopathy 70 27
2518 c DVL093 Developmental and Epileptic Encephalopathy 69 27
2519 c DVL120 Developmental and Epileptic Encephalopathy 95 27
2520 c DVL086 Developmental and Epileptic Encephalopathy 62 27
2521 c DVL088 Developmental and Epileptic Encephalopathy 64 27
2522 c KHL004 Kohlschutter-Tonz Syndrome-Like 27
2523 c DVL074 Developmental and Epileptic Encephalopathy 49 27
2524 c INT517 Intellectual Developmental Disorder, Autosomal Recessive 13 27
2525 c MCK028 Meckel Syndrome 13 27
2526 LKN017 Leukoencephalopathy with Ataxia 27
2527 PLM137 Palmoplantar Keratoderma and Woolly Hair 27
2528 c PRK098 Parkinson Disease 5, Autosomal Dominant 27
2529 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
2530 c DVL047 Developmental and Epileptic Encephalopathy 19 27
2531 c INT535 Intellectual Developmental Disorder, Autosomal Recessive 37 27
2532 c DVL092 Developmental and Epileptic Encephalopathy 68 26
2533 c SNR004 Senior-Loken Syndrome 4 26
2534 ACC002 Accommodative Spasm 26
2535 c DVL091 Developmental and Epileptic Encephalopathy 67 26
2536 c MCK026 Meckel Syndrome 12 26
2537 c DVL083 Developmental and Epileptic Encephalopathy 59 26
2538 c PNT055 Pontocerebellar Hypoplasia, Type 14 26
2539 c DVL075 Developmental and Epileptic Encephalopathy 51 26
2540 c DVL104 Developmental and Epileptic Encephalopathy 81 26
2541 c MCR219 Microphthalmia, Isolated 8 26
2542 TKL001 Tukel Syndrome 26
2543 c ATS523 Autosomal Recessive Intellectual Developmental Disorder 26
2544 c FRM005 Frmd7-Related Infantile Nystagmus 26
2545 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 26
2546 c DVL115 Developmental and Epileptic Encephalopathy 92 26
2547 c INT393 Intellectual Developmental Disorder, Autosomal Dominant 64 26
2548 c INT545 Intellectual Developmental Disorder, Autosomal Recessive 48 26
2549 c INT558 Intellectual Developmental Disorder, Autosomal Recessive 61 26
2550 c DVL127 Developmental and Epileptic Encephalopathy 98 26
2551 c INT515 Intellectual Developmental Disorder, Autosomal Dominant 4 26
2552 c DVL128 Developmental and Epileptic Encephalopathy 99 26
2553 c INT561 Intellectual Developmental Disorder, Autosomal Dominant 53 26
2554 NRD096 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 26
2555 c DVL070 Developmental and Epileptic Encephalopathy 45 26
2556 c PRK099 Parkinson Disease 18, Autosomal Dominant 26
2557 c EPD124 Epidermolysis Bullosa, Junctional 5a, Intermediate 26
2558 c MCR382 Microcephaly 26, Primary, Autosomal Dominant 25
2559 c DVL081 Developmental and Epileptic Encephalopathy 57 25
2560 EXT029 Extraocular Retinoblastoma 25
2561 c SPN432 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 25
2562 c CRN280 Cornea Plana 2, Autosomal Recessive 25
2563 NNS133 Non-Syndromic Metopic Craniosynostosis 25
2564 c INT544 Intellectual Developmental Disorder, Autosomal Recessive 46 25
2565 c DVL102 Developmental and Epileptic Encephalopathy 79 25
2566 c DVL032 Developmental and Epileptic Encephalopathy 90 25
2567 MCD002 Mcdonough Syndrome 25
2568 c DVL131 Developmental and Epileptic Encephalopathy 100 25
2569 c SNR006 Senior-Loken Syndrome 6 25
2570 c DVL105