Eye Diseases Category (2554 diseases)


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

# Family MCID Name MIFTS
1 GYR003 Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia 43
2 c OPT053 Optic Atrophy 1 46
3 LBR030 Leber Optic Atrophy 54
4 OPT049 Optic Atrophy 3 with Cataract 35
5 P NRM001 Neuromyelitis Optica 61
6 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 29
7 LBR020 Leber Hereditary Optic Neuropathy with Dystonia 32
8 CLB003 Coloboma of Optic Nerve 43
9 NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 52
10 c 3MT015 3-Methylglutaconic Aciduria, Type I 41
11 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 40
12 c 3MT014 3-Methylglutaconic Aciduria, Type V 39
13 P 3MT007 3-Methylglutaconic Aciduria 38
14 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 33
15 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 19
16 CLR033 Color Vision Deficiency 37
17 SPT019 Septo-Optic Dysplasia Spectrum 25
18 SPT006 Septooptic Dysplasia 48
19 CRB058 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 16
20 P WLF004 Wolfram Syndrome 63
21 OPT006 Optic Nerve Disease 49
22 c WLF009 Wolfram Syndrome 2 46
23 c WLF010 Wolfram Syndrome-Like Disease 18
24 P XLN110 X-Linked Charcot-Marie-Tooth Disease 40
25 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 39
26 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
27 OLV004 Oliver-Mcfarlane Syndrome 31
28 c OPT023 Optic Atrophy 2 29
29 OPT037 Optic Nerve Hypoplasia 51
30 c OPT055 Optic Atrophy Plus Syndrome 50
31 c MCR124 Microphthalmia, Isolated 1 32
32 c MCR122 Microphthalmia, Isolated 5 26
33 P ISL020 Isolated Microphthalmia 25
34 c MCR137 Microphthalmia, Isolated 2 24
35 c MCR211 Microphthalmia, Isolated 6 23
36 c MCR114 Microphthalmia, Isolated 3 23
37 c MCR109 Microphthalmia, Isolated 4 22
38 c MCR219 Microphthalmia, Isolated 8 21
39 c MCR108 Microphthalmia, Isolated 7 18
40 EYL005 Eyelid Disease 37
41 c OPT057 Optic Atrophy 7 29
42 OPT001 Optic Disk Drusen 27
43 BHR001 Behr Syndrome 38
44 ICH066 Ichthyosis--Cheek--Eyebrow Syndrome 18
45 TRC055 Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina 9
46 EYL001 Eyelid Neoplasm 27
47 FVL005 Foveal Hypoplasia 2, with or Without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 22
48 P BLP003 Blepharospasm 42
49 SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 25
50 c BLP015 Blepharospasm, Primary Benign 25
51 P AGN002 Agnosia 59
52 P PHS005 Peho Syndrome 35
53 GPS001 Gapo Syndrome 34
54 SCH038 Schopf-Schulz-Passarge Syndrome 30
55 BSC005 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 25
56 c FRM002 Form Agnosia 18
57 c PHS024 Peho Syndrome-Like 11
58 CPS001 Capos Syndrome 25
59 ATS300 Autosomal Dominant Optic Atrophy, Classic Form 10
60 ATS055 Autosomal Recessive Optic Atrophy, Hearing Loss, and Peripheral Neuropathy 5
61 OPT009 Optic Neuritis 48
62 c OPT064 Optic Atrophy 11 25
63 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 20
64 FLC002 Fleck Retina, Familial Benign 19
65 SPN337 Spoan Syndrome 18
66 VSL003 Visual Agnosia 36
67 P CLB027 Coloboma, Ocular 34
68 c NRM008 Neuromyelitis Optica Spectrum Disorder 27
69 c OPT065 Optic Atrophy 9 25
70 SPS061 Spastic Paraplegia, Optic Atrophy, and Neuropathy 25
71 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 19
72 c CLB022 Coloboma, Ocular, Autosomal Recessive 18
73 OPT005 Optic Nerve Astrocytoma 18
74 VSL012 Visual Snow Syndrome 16
75 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 14
76 HYP012 Hyperpigmentation of Eyelid 11
77 VNS001 Venous Tributary Occlusion of Retina 6
78 SHR049 Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome 4
79 RTN017 Retinal Detachment 54
80 SCT002 Scotoma 38
81 OPT002 Optic Nerve Sheath Meningioma 29
82 P HRD022 Hordeolum 28
83 CVT001 Cavitary Optic Disc Anomalies 25
84 c INT047 Internal Hordeolum 18
85 SPL058 Splenomegaly, Cytopenia, and Vision Loss 18
86 P RTN016 Retinal Degeneration 53
87 c RTN087 Retinal Degeneration, Late-Onset, Autosomal Dominant 36
88 CHS002 Chiasmal Syndrome 31
89 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 21
90 BNC002 Binocular Vision Disease 20
91 RTN018 Retinal Disease 51
92 P CLR019 Color Blindness 45
93 ISC002 Ischemic Optic Neuropathy 44
94 VSL002 Visual Epilepsy 33
95 CRB159 Cerebral Visual Impairment 31
96 VSL004 Visual Cortex Disease 28
97 CMB069 Combined Hamartoma of the Retina and Retinal Pigment Epithelium 19
98 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 18
99 CHL024 Childhood Optic Nerve Glioma 17
100 c OPT059 Optic Atrophy 4 17
101 BLN017 Balint Syndrome 14
102 c ACQ001 Acquired Color Blindness 12
103 SHR097 Short Tarsus with Absence of Lower Eyelashes 11
104 FLC004 Fleck Retina of Kandori 11
105 CNG395 Congenital Retinal Arteriovenous Communication 11
106 CHL023 Childhood Optic Tract Astrocytoma 10
107 PRS018 Parasitic Eyelid Infestation 9
108 ALL005 Allergic Contact Dermatitis of Eyelid 7
109 ATM073 Autoimmune-Related Retinopathy and Optic Neuropathy 7
110 GLC005 Glaucomatous Atrophy of Optic Disc 7
111 NNN006 Noninfectious Dermatoses of Eyelid 7
112 CLB012 Coloboma of Optic Papilla 7
113 BLT005 Bilateral Meningioma of Optic Nerve 6
114 CRT010 Crater-Like Holes of Optic Disc 6
115 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 6
116 GRW009 Growth Retardation Alopecia Pseudoanodontia Optic 2
117 TRC077 Trichomegaly 38
118 OPT010 Optic Papillitis 28
119 OPT032 Optic Pathway Glioma 26
120 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 26
121 3MC001 3mc Syndrome 2 25
122 c OPT060 Optic Atrophy 8 24
123 CMB047 Combined Oxidative Phosphorylation Deficiency 18 20
124 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 13
125 P MYP006 Myopia 59
126 P PTS002 Ptosis 52
127 ECT005 Ectropion 41
128 c MYP018 Myopia 6 37
129 BLC005 Blue Color Blindness 32
130 c PTS008 Ptosis, Congenital 31
131 c OPT024 Optic Atrophy 5 21
132 c MYP041 Myopia 8 19
133 c MYP040 Myopia 7 18
134 c MYP044 Myopia 10 18
135 c MYP048 Myopia 9 18
136 c MYP074 Myopia 23, Autosomal Recessive 16
137 c MYP070 Myopia 21, Autosomal Dominant 16
138 c MYP069 Myopia 14 16
139 c MYP023 Myopia, Autosomal 16
140 c MYP075 Myopia 22, Autosomal Dominant 15
141 c MYP090 Myopia 24, Autosomal Dominant 14
142 JVN026 Jeavons Syndrome 14
143 c PTS010 Ptosis, Hereditary Congenital 2 13
144 c MYP117 Myopia 25, Autosomal Dominant 13
145 c MYP084 Myopia 20, Autosomal Dominant 10
146 c HRD067 Hereditary Congenital Ptosis 9
147 OCL011 Ocular Motility Disease 38
148 KHN001 Kuhnt-Junius Degeneration 37
149 PRP026 Peripheral Retinal Degeneration 34
150 PRR004 Preretinal Fibrosis 33
151 DGN003 Degeneration of Macula and Posterior Pole 31
152 P PRM016 Primary Optic Atrophy 31
153 SPN033 Spontaneous Ocular Nystagmus 30
154 ART110 Arteritic Anterior Ischemic Optic Neuropathy 30
155 TXC008 Toxic Optic Neuropathy 29
156 VSL005 Visual Pathway Disease 29
157 FST001 Foster-Kennedy Syndrome 21
158 RDG002 Red-Green Color Vision Defects 20
159 P TXC009 Toxic Maculopathy 18
160 CLB018 Coloboma of Eyelid 18
161 NTR002 Nutritional Optic Neuropathy 14
162 CYS012 Cystoid Macular Retinal Degeneration 14
163 PRT024 Partial Optic Atrophy 14
164 PSD005 Pseudoretinitis Pigmentosa 12
165 VSL006 Visual Pathway and Hypothalamic Glioma, Childhood 12
166 PRP004 Peripheral Scars of Retina 11
167 BLS004 Blessig's Cysts 10
168 VSP002 Vasoproliferative Tumor of Retina 10
169 HYP044 Hypotrichosis of Eyelid 10
170 c TXC018 Toxic Maculopathy Due to Antimalarial Drugs 9
171 EYL004 Eyelid Degenerative Disease 9
172 RTN005 Retinal Lattice Degeneration 9
173 HLR003 Hole Retinal Cyst 9
174 MLG010 Malignant Eyelid Melanoma 8
175 ATS326 Autosomal Recessive Isolated Optic Atrophy 8
176 VSL001 Visual Verbal Agnosia 8
177 CBB001 Cobblestone Retinal Degeneration 7
178 HYP046 Hypopigmentation of Eyelid 7
179 SNL002 Senile Reticular Retinal Degeneration 7
180 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 7
181 ANT020 Anterior Optic Tract Meningioma 6
182 CNG355 Congenital Eyelid Retraction 6
183 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 6
184 ECZ001 Eczematous Dermatitis of Eyelid 5
185 HYP045 Hypertrichosis of Eyelid 5
186 XRD002 Xeroderma of Eyelid 5
187 CLB023 Coloboma of Inferior Eyelid 5
188 DSC002 Discoid Lupus Erythematosus of Eyelid 5
189 CLB024 Coloboma of Superior Eyelid 4
190 LGH018 Leigh-Like Basal Ganglia Disease-Optic Atrophy-Peripheral Neuropathy Syndrome 4
191 GLB020 Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome 4
192 c HRD010 Hereditary Spastic Paraplegia 66
193 P CNJ013 Conjunctivitis 63
194 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 61
195 P CTS001 Cutis Laxa 60
196 EXF001 Exfoliation Syndrome 57
197 P UVT001 Uveitis 57
198 P CTR002 Cataract 57
199 EYD002 Eye Disease 57
200 P LKD001 Leukodystrophy 56
201 P ACH003 Achromatopsia 55
202 P FND001 Fundus Albipunctatus 55
203 P OCL002 Oculocutaneous Albinism 55
204 P CNG010 Congenital Stationary Night Blindness 53
205 c HRM005 Hermansky-Pudlak Syndrome 1 52
206 P STR020 Strabismus 52
207 KRT006 Keratoconjunctivitis 52
208 c INT064 Intermediate Uveitis 51
209 c RTN162 Retinitis Pigmentosa 2 51
210 VTR013 Vitreoretinopathy, Neovascular Inflammatory 50
211 EXP004 Exophthalmos 50
212 c HRM006 Hermansky-Pudlak Syndrome 3 49
213 RTN023 Retinitis 49
214 P PNV001 Panuveitis 48
215 c MCP038 Mucopolysaccharidosis Iva 48
216 c LBR012 Leber Congenital Amaurosis 2 48
217 DRY001 Dry Eye Syndrome 48
218 c MCP040 Mucopolysaccharidosis-Plus Syndrome 48
219 P OPN001 Open-Angle Glaucoma 48
220 c ANT034 Anterior Uveitis 47
221 RTN003 Retinal Ischemia 47
222 STR072 Stromal Keratitis 47
223 P NGH001 Night Blindness 47
224 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
225 c RTN160 Retinitis Pigmentosa 60 46
226 DBT006 Diabetic Macular Edema 46
227 OCL006 Ocular Hypertension 46
228 CRN027 Corneal Neovascularization 46
229 ENH001 Enhanced S-Cone Syndrome 46
230 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 46
231 c GLC062 Glaucoma 1, Open Angle, E 46
232 c LBR004 Leber Congenital Amaurosis 1 46
233 c USH035 Usher Syndrome Type 2 45
234 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 45
235 c RTN058 Retinitis Pigmentosa 3 45
236 c PST005 Posterior Uveitis 45
237 c ACH021 Achromatopsia 3 45
238 P END047 Endophthalmitis 45
239 c USH032 Usher Syndrome, Type 2a 45
240 c HRM008 Hermansky-Pudlak Syndrome 5 45
241 c NGH019 Night Blindness, Congenital Stationary , 1a, X-Linked 45
242 CNJ012 Conjunctival Disease 45
243 c CHR086 Chronic Conjunctivitis 45
244 c MYS051 Myasthenic Syndrome, Congenital, 5 45
245 NVS001 Neovascular Glaucoma 44
246 P SDR002 Siderosis 44
247 P INF016 Infantile Epileptic Encephalopathy 44
248 AMB002 Amblyopia 44
249 P CRN028 Corneal Ulcer 44
250 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 44
251 c LBR014 Leber Congenital Amaurosis 4 44
252 c ACH020 Achromatopsia 2 44
253 P MCP012 Mucopolysaccharidosis Ih 44
254 AST006 Astigmatism 43
255 c MCR256 Microphthalmia, Syndromic 9 43
256 c RTN050 Retinitis Pigmentosa 20 43
257 CRN024 Corneal Disease 43
258 c CHR095 Chronic Progressive External Ophthalmoplegia 43
259 BLL004 Bullous Keratopathy 43
260 OCL001 Ocular Albinism 43
261 c USH008 Usher Syndrome, Type 1d 42
262 c MYS052 Myasthenic Syndrome, Congenital, 10 42
263 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
264 c RTN043 Retinitis Pigmentosa 13 42
265 P RTN014 Retinal Artery Occlusion 42
266 c RTN172 Retinitis Pigmentosa 1 42
267 MCL006 Macular Retinal Edema 42
268 CRN241 Corneal Dystrophy, Congenital Stromal 42
269 GLC084 Glaucoma, Normal Tension 42
270 c RTN055 Retinitis Pigmentosa 26 42
271 c USH034 Usher Syndrome, Type 2d 41
272 END072 Endotheliitis 41
273 CRN025 Corneal Dystrophy 41
274 ATP013 Atopic Keratoconjunctivitis 41
275 VRN001 Vernal Conjunctivitis 41
276 c USH007 Usher Syndrome, Type 1c 41
277 RFR003 Refractive Error 41
278 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
279 MCL003 Macular Holes 41
280 P CRB149 Cerebroretinal Microangiopathy with Calcifications and Cysts 40
281 IRD001 Iridocyclitis 40
282 c RTN143 Retinitis Pigmentosa 47 40
283 LCR008 Lacrimal Apparatus Disease 40
284 c CTR130 Cataract 9, Multiple Types 40
285 c LBR019 Leber Congenital Amaurosis 9 40
286 VTR005 Vitreous Disease 40
287 P ANT073 Anterior Segment Dysgenesis 1, Multiple Subtypes 40
288 c MCL060 Macular Dystrophy, Vitelliform, 3 40
289 c USH012 Usher Syndrome, Type 2c 40
290 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 40
291 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
292 BLP005 Blepharitis 40
293 RTN175 Retinitis Pigmentosa 7 and Digenic 40
294 SYM002 Sympathetic Ophthalmia 40
295 c RTN048 Retinitis Pigmentosa 19 39
296 P HRN001 Horner's Syndrome 39
297 FND002 Fundus Dystrophy 39
298 P CRN026 Corneal Edema 39
299 KRT008 Keratopathy 39
300 c RTN142 Retinitis Pigmentosa 38 39
301 EXT022 Exotropia 39
302 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
303 OCC002 Occult Macular Dystrophy 39
304 c CTR129 Cataract 31, Multiple Types 39
305 c HRM009 Hermansky-Pudlak Syndrome 6 39
306 CHR386 Chromosome 6pter-P24 Deletion Syndrome 39
307 c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 39
308 c CTR115 Cataract 16, Multiple Types 38
309 c PFF007 Pfeiffer Syndrome Type 1 38
310 c MCL066 Macular Dystrophy, Vitelliform, 2 38
311 c RTN177 Retinitis Pigmentosa 73 38
312 c MNS014 Monosomy 22 38
313 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
314 c USH022 Usher Syndrome, Type 1g 38
315 OCL010 Ocular Hypotension 38
316 c RTN136 Retinitis Pigmentosa 44 38
317 c CTR141 Cataract 21, Multiple Types 38
318 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 38
319 c MCR261 Microphthalmia, Syndromic 2 38
320 c CTR118 Cataract 14, Multiple Types 38
321 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
322 c CTR098 Cataract 1, Multiple Types 38
323 HYP008 Hypertensive Retinopathy 38
324 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
325 c LBR007 Leber Congenital Amaurosis 12 38
326 P VTL001 Vitelliform Macular Dystrophy 38
327 DBT007 Diabetic Cataract 37
328 c CTS008 Cutis Laxa, Autosomal Dominant 37
329 c USH010 Usher Syndrome, Type 1f 37
330 c CNT028 Central Retinal Artery Occlusion 37
331 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
332 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
333 CRN046 Corneal Fleck Dystrophy 37
334 c OPT050 Opitz Gbbb Syndrome, Type Ii 37
335 SNL007 Senile Cataract 37
336 P WGN003 Wagner Syndrome 37
337 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 37
338 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
339 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 37
340 PRM024 Primary Angle-Closure Glaucoma 37
341 P JVN008 Juvenile Glaucoma 37
342 INT042 Internuclear Ophthalmoplegia 37
343 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 37
344 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
345 c LBR013 Leber Congenital Amaurosis 3 36
346 c MYS064 Myasthenic Syndrome, Congenital, 16 36
347 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 36
348 c PRG104 Progressive External Ophthalmoplegia, Autosomal Recessive 1 36
349 c RTN062 Retinitis Pigmentosa 33 36
350 c RTN131 Retinitis Pigmentosa 27 36
351 c RTN047 Retinitis Pigmentosa 18 36
352 c LBR011 Leber Congenital Amaurosis 16 36
353 c LBR009 Leber Congenital Amaurosis 14 36
354 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
355 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
356 c RTN149 Retinitis Pigmentosa 42 36
357 c RTN165 Retinitis Pigmentosa 68 36
358 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
359 MRN002 Mooren's Ulcer 36
360 c LBR005 Leber Congenital Amaurosis 10 36
361 c RTN070 Retinitis Pigmentosa 9 35
362 BCK003 Background Diabetic Retinopathy 35
363 c RTN054 Retinitis Pigmentosa 25 35
364 HRP025 Herpes Simplex Virus Keratitis 35
365 EXC003 Excessive Tearing 35
366 c RTN090 Retinitis Pigmentosa 55 35
367 CNJ007 Conjunctivochalasis 35
368 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 35
369 HRD016 Hereditary Retinal Dystrophy 35
370 RTN013 Retinal Hemangioblastoma 35
371 LNS003 Lens Disease 35
372 c RTN041 Retinitis Pigmentosa 11 35
373 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 35
374 ARC001 Arcus Senilis 35
375 c LBR016 Leber Congenital Amaurosis 6 35
376 BLT001 Bilateral Retinoblastoma 35
377 c CTR132 Cataract 3, Multiple Types 35
378 c CTR125 Cataract 7 35
379 ACT011 Acute Contagious Conjunctivitis 35
380 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
381 c RTN059 Retinitis Pigmentosa 30 35
382 CHM006 Chime Syndrome 35
383 CHR079 Choroid Disease 35
384 c CTR145 Cataract 44 35
385 c RTN150 Retinitis Pigmentosa 10 35
386 PPL019 Papillary Conjunctivitis 35
387 RCR001 Recurrent Corneal Erosion 35
388 c RTN083 Retinitis Pigmentosa-40 34
389 c RTN056 Retinitis Pigmentosa 28 34
390 c RTN046 Retinitis Pigmentosa 17 34
391 c RTN088 Retinitis Pigmentosa-50 34
392 c BCT006 Bacterial Conjunctivitis 34
393 c CTR095 Cataract 8, Multiple Types 34
394 c CTR096 Cataract 6, Multiple Types 34
395 c HRM007 Hermansky-Pudlak Syndrome 4 34
396 c ANT023 Anterior Scleritis 34
397 c RTN044 Retinitis Pigmentosa 14 34
398 c RTN152 Retinitis Pigmentosa 66 34
399 c MCP036 Mucopolysaccharidosis Ih/s 34
400 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 34
401 RBS002 Rubeosis Iridis 34
402 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 34
403 BLP006 Blepharoconjunctivitis 34
404 IRT001 Iritis 34
405 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
406 c GLC074 Glaucoma 1a, Primary Open Angle 34
407 c PRG105 Progressive External Ophthalmoplegia, Autosomal Dominant 1 34
408 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
409 P VTR008 Vitreoretinal Degeneration 34
410 OCL046 Ocular Albinism, Type I, Nettleship-Falls Type 34
411 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
412 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
413 c CTR102 Cataract 2, Multiple Types 34
414 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
415 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 34
416 PRX075 Proximal Myopathy and Ophthalmoplegia 33
417 c ATS076 Autosomal Recessive Stickler Syndrome 33
418 c MCP015 Mucopolysaccharidosis Type Ix 33
419 c LBR018 Leber Congenital Amaurosis 8 33
420 c RTN116 Retinitis Pigmentosa 56 33
421 c ACH023 Achromatopsia 4 33
422 c ALB019 Albinism, Oculocutaneous, Type Iv 33
423 c RTN147 Retinitis Pigmentosa 48 33
424 ORB013 Orbital Disease 33
425 PSD008 Pseudopapilledema 33
426 c CTR103 Cataract 4, Multiple Types 33
427 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 33
428 P VTR010 Vitreoretinochoroidopathy 33
429 P CRN249 Cornea Plana 33
430 c CTR121 Cataract 25 33
431 PRS025 Presbyopia 33
432 c ACT037 Acute Dacryocystitis 33
433 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 33
434 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
435 BLP001 Blepharochalasis 33
436 LCR001 Lacrimal Duct Obstruction 33
437 MLY006 Molybdenum Cofactor Deficiency a 33
438 c RTN186 Retinitis Pigmentosa 75 33
439 c PST008 Posterior Scleritis 33
440 c RTN064 Retinitis Pigmentosa 35 33
441 c RTN133 Retinitis Pigmentosa 43 33
442 c CTR122 Cataract 5, Multiple Types 32
443 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 32
444 c PRM032 Primary Congenital Glaucoma 32
445 PNG001 Pinguecula 32
446 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 32
447 c OPT051 Opitz Gbbb Syndrome, Type I 32
448 LKC002 Leukocoria 32
449 c CTR113 Cataract 11, Multiple Types 32
450 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 32
451 IRS003 Iris Disease 32
452 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 32
453 c WLL027 Weill-Marchesani Syndrome 1, Recessive 32
454 EPT021 Epithelial Recurrent Erosion Dystrophy 32
455 c KNB004 Knobloch Syndrome, Type 1 32
456 CRT012 Cortical Blindness 32
457 EYD001 Eye Degenerative Disease 32
458 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 32
459 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 32
460 XRP001 Xerophthalmia 32
461 RDC001 Red Color Blindness 32
462 c HRM012 Hermansky-Pudlak Syndrome 9 32
463 VTR003 Vitreous Detachment 32
464 EPT025 Epithelial Basement Membrane Dystrophy 32
465 UNL002 Unilateral Retinoblastoma 32
466 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
467 c RTN051 Retinitis Pigmentosa 22 31
468 P KNB001 Knobloch Syndrome 31
469 CTR112 Cataract 30, Pulverulent 31
470 c CTR124 Cataract 10, Multiple Types 31
471 c HRD185 Hereditary Spastic Paraplegia 3a 31
472 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 31
473 SCL013 Scleral Disease 31
474 P CRN282 Corneal Endothelial Dystrophy, Autosomal Recessive 31
475 RTN002 Retinal Perforation 31
476 CHR382 Chromosome 18q Deletion Syndrome 31
477 P DCR003 Dacryoadenitis 31
478 c ANT068 Anterior Segment Dysgenesis 2, Multiple Subtypes 31
479 c MCL043 Macular Degeneration, Age-Related, 2 31
480 INT082 Intraocular Retinoblastoma 31
481 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 31
482 c RTN052 Retinitis Pigmentosa 23 31
483 c RTN092 Retinitis Pigmentosa 4, Autosomal Dominant or Recessive 31
484 HYP084 Hypopyon 31
485 OCL004 Ocular Hyperemia 31
486 SPN331 Spondyloocular Syndrome 31
487 c HRM011 Hermansky-Pudlak Syndrome 8 31
488 c ACT067 Acute Conjunctivitis 31
489 c RTN057 Retinitis Pigmentosa 29 30
490 c LBR015 Leber Congenital Amaurosis 5 30
491 DGN002 Degenerative Myopia 30
492 c RTN146 Retinitis Pigmentosa 62 30
493 c WLL026 Weill-Marchesani Syndrome 2, Dominant 30
494 FLM001 Filamentary Keratitis 30
495 PHT002 Photokeratitis 30
496 SVR002 Severe Nonproliferative Diabetic Retinopathy 30
497 SCL014 Scleral Staphyloma 30
498 c RTN060 Retinitis Pigmentosa 31 30
499 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 30
500 c RTN171 Retinitis Pigmentosa 59 30
501 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 30
502 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 30
503 c WGN005 Wagner Syndrome 1 30
504 P SPN202 Spinocerebellar Ataxia, X-Linked 1 30
505 c NGH014 Night Blindness, Congenital Stationary , 1b, Autosomal Recessive 30
506 CHR077 Chorioretinal Scar 30
507 c RTN096 Retinitis Pigmentosa-12, Autosomal Recessive 30
508 BSL037 Basal Laminar Drusen 30
509 END034 Endocrine Exophthalmos 30
510 VST003 Vestibular Nystagmus 30
511 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
512 CRN022 Corneal Degeneration 30
513 LNS001 Lens Subluxation 30
514 RDG001 Red-Green Color Blindness 30
515 c INF019 Infectious Anterior Uveitis 30
516 ANS004 Anisometropia 30
517 CNR014 Cone-Rod Dystrophy 16 30
518 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
519 ENT005 Entropion 29
520 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 29
521 STR019 Steroid-Induced Glaucoma 29
522 c NGH018 Night Blindness, Congenital Stationary , 1e, Autosomal Recessive 29
523 CNJ010 Conjunctival Degeneration 29
524 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 29
525 RTN006 Retinal Drusen 29
526 P SPS012 Spastic Paraplegia 3a 29
527 AST003 Asthenopia 29
528 CRN273 Corneal Dystrophy, Subepithelial Mucinous 29
529 GLC001 Glaucomatocyclitic Crisis 29
530 c RTN053 Retinitis Pigmentosa 24 29
531 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29
532 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 28
533 c RTN067 Retinitis Pigmentosa 41 28
534 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 28
535 c RBN008 Rubinstein-Taybi Syndrome 2 28
536 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 28
537 PRF002 Perforated Corneal Ulcer 28
538 ACR021 Aica-Ribosiduria Due to Atic Deficiency 28
539 c HRM010 Hermansky-Pudlak Syndrome 7 28
540 ORB007 Orbital Cyst 28
541 CNJ001 Conjugate Gaze Palsy 28
542 c RTN114 Retinitis Pigmentosa 58 28
543 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28
544 SVN002 Sveinsson Chorioretinal Atrophy 28
545 CLB026 Colobomatous Microphthalmia 28
546 RTN019 Retinal Telangiectasia 28
547 P XLN012 X-Linked Congenital Stationary Night Blindness 28
548 c CTR167 Cataract 22 28
549 c RTN065 Retinitis Pigmentosa 36 28
550 HYP048 Hypotropia 28
551 c HRD015 Hereditary Night Blindness 28
552 c CTR134 Cataract 23 28
553 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 28
554 MCL054 Macular Degeneration, Age-Related, 14, Reduced Risk of 28
555 c MCL059 Macular Dystrophy, Patterned, 1 27
556 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 27
557 c CHR093 Chronic Orbital Inflammation 27
558 c NNS043 Nonsyndromic Retinitis Pigmentosa 27
559 c RTN129 Retinitis Pigmentosa 49 27
560 c RTN159 Retinitis Pigmentosa 45 27
561 c SPS031 Spastic Paraplegia 23 27
562 P DCR004 Dacryocystitis 27
563 CNR025 Cone-Rod Dystrophy 15 27
564 DST033 Distichiasis 27
565 STR086 Stromal Dystrophy 27
566 HYP047 Hypertropia 27
567 HYD007 Hydrophthalmos 27
568 c RTN106 Retinitis Pigmentosa 51 27
569 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 27
570 ENP001 Enophthalmos 27
571 c ALB015 Albinism, Oculocutaneous, Type V 27
572 P SCL047 Sclerocornea 27
573 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27
574 c USH030 Usher Syndrome, Type Ik 27
575 INT065 Interstitial Keratitis 27
576 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 27
577 CYC001 Cycloplegia 27
578 c USH031 Usher Syndrome, Type Ij 27
579 c RTN140 Retinitis Pigmentosa 67 27
580 PGM007 Pigmented Paravenous Chorioretinal Atrophy 27
581 SPS002 Spastic Entropion 27
582 P MCL035 Macular Dystrophy, Retinal, 2 27
583 c PFF011 Pfeiffer Syndrome Type 2 27
584 SPP007 Suppression Amblyopia 26
585 c STC012 Stickler Syndrome, Type Iv 26
586 OCL063 Oculopharyngodistal Myopathy 26
587 LGP001 Lagophthalmos 26
588 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
589 SHP001 Shipyard Eye 26
590 CHR080 Choroidal Sclerosis 26
591 c MCL070 Macular Dystrophy, Patterned, 3 26
592 CNR016 Cone-Rod Dystrophy 7 26
593 P BST001 Bestrophinopathy 26
594 CRN274 Corneal Dystrophy, Posterior Amorphous 26
595 c ACT047 Acute Endophthalmitis 26
596 c ACQ027 Acquired Cutis Laxa 26
597 ISL011 Isolated Aniridia 26
598 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 26
599 c LBR010 Leber Congenital Amaurosis 15 26
600 GLB003 Globe Disease 26
601 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
602 c LBR017 Leber Congenital Amaurosis 7 26
603 VTR001 Vitreoretinal Dystrophy 26
604 c MCL036 Macular Degeneration, Age-Related, 6 26
605 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 26
606 c CTR158 Cataract 37 26
607 IRR001 Irregular Astigmatism 26
608 c USH026 Usher Syndrome Type 3b 26
609 LRY022 Laryngoonychocutaneous Syndrome 26
610 c RTN157 Retinitis Pigmentosa 37 26
611 c RTN085 Retinitis Pigmentosa 54 26
612 BND001 Band Keratopathy 26
613 ISL062 Isolated Plagiocephaly 26
614 CRN009 Corneal Ectasia 26
615 IMM002 Immature Cataract 26
616 EXP002 Exposure Keratitis 26
617 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 26
618 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 26
619 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
620 ORB006 Orbital Cellulitis 26
621 c SPS036 Spastic Paraplegia 3 26
622 c CTR131 Cataract 17, Multiple Types 26
623 c CTR136 Cataract 41 26
624 c MCL038 Macular Degeneration, Age-Related, 4 26
625 c PFF009 Pfeiffer Syndrome Type 3 26
626 NLL002 Null Syndrome 26
627 ANG004 Angioid Streaks 26
628 MGL003 Megalocornea 26
629 c MCL030 Macular Degeneration, Age-Related, 10 25
630 ORB010 Orbital Granuloma 25
631 CNR021 Cone-Rod Dystrophy 10 25
632 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 25
633 DSS006 Disuse Amblyopia 25
634 c CTR165 Cataract 19, Multiple Types 25
635 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 25
636 CHR053 Chronic Follicular Conjunctivitis 25
637 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 25
638 c NGH016 Night Blindness, Congenital Stationary , 1c, Autosomal Recessive 25
639 c SPS013 Spastic Paraplegia 8 25
640 c BST008 Bestrophinopathy, Autosomal Recessive 25
641 EYC003 Eye Accommodation Disease 25
642 c RTN178 Retinitis Pigmentosa 72 25
643 c MCL064 Macular Degeneration, Age-Related 5 25
644 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
645 c MNS008 Monosomy 21 25
646 c CRN229 Corneal Dystrophy, Posterior Polymorphous 2 25
647 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
648 c RTN141 Retinitis Pigmentosa 39 25
649 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
650 P PRS124 Presynaptic Congenital Myasthenic Syndromes 25
651 c SPS021 Spastic Paraplegia 10 25
652 PRL014 Paralytic Squint 25
653 c GLC078 Glaucoma 1, Open Angle, F 25
654 OLG014 Oligocone Trichromacy 25
655 c RTN176 Retinitis Pigmentosa 71 25
656 c RTN169 Retinitis Pigmentosa 70 25
657 c ALB016 Albinism, Oculocutaneous, Type Vii 25
658 c SPS092 Spastic Paraplegia 11 25
659 ACT022 Acute Retinal Necrosis Syndrome 25
660 c CTR111 Cataract 36 25
661 c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 25
662 c MCR212 Microphthalmia, Syndromic 12 25
663 ISL061 Isolated Brachycephaly 25
664 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 25
665 HRD019 Hereditary Choroidal Atrophy 25
666 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
667 c HRM020 Hermansky-Pudlak Syndrome 10 25
668 c MCL052 Macular Degeneration, Age-Related, 13 25
669 c MCL039 Macular Degeneration, Age-Related, 8 25
670 c NGH020 Night Blindness, Congenital Stationary , 2a, X-Linked 25
671 c MCL041 Macular Degeneration, Age-Related, 7 25
672 ACC003 Accommodative Esotropia 24
673 c LBR029 Leber Congenital Amaurosis 17 24
674 c MYS042 Myasthenic Syndrome, Congenital, 8, with Pre- and Postsynaptic Defects 24
675 c CHR054 Chronic Closed-Angle Glaucoma 24
676 c LBR008 Leber Congenital Amaurosis 13 24
677 c ERL012 Early-Onset Glaucoma 24
678 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
679 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 24
680 c CTS041 Cutis Laxa, Autosomal Dominant 3 24
681 SNL004 Senile Ectropion 24
682 RGL001 Regular Astigmatism 24
683 c STC011 Stickler Syndrome, Type V 24
684 c INF122 Infantile Krabbe Disease 24
685 c CTR116 Cataract 15, Multiple Types 24
686 c RTN130 Retinitis Pigmentosa 46 24
687 P PST063 Postsynaptic Congenital Myasthenic Syndromes 24
688 c MYS056 Myasthenic Syndrome, Congenital, 17 24
689 CNR013 Cone-Rod Dystrophy 12 24
690 LGH012 Leigh Syndrome with Leukodystrophy 24
691 c SPS200 Spastic Paraplegia 62 24
692 c RTN144 Retinitis Pigmentosa 61 24
693 CNR017 Cone-Rod Dystrophy 9 24
694 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 24
695 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 24
696 c MCL051 Macular Degeneration, Age-Related, 12 24
697 c HRD186 Hereditary Spastic Paraplegia 51 24
698 c WLL011 Weill-Marchesani-Like Syndrome 24
699 c MTC074 Metachromatic Leukodystrophy, Adult Form 24
700 MLY005 Molybdenum Cofactor Deficiency B 24
701 c CTR104 Cataract 18, Autosomal Recessive 24
702 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
703 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 24
704 c CTR106 Cataract 20, Multiple Types 24
705 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
706 PPL023 Pupil Disease 24
707 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 24
708 c RTN166 Retinitis Pigmentosa 69 24
709 c MCL032 Macular Degeneration, Age-Related, 11 24
710 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 24
711 c SPS025 Spastic Paraplegia 15 24
712 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
713 c SPS041 Spastic Paraplegia 6 24
714 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
715 c SPS135 Spastic Paraplegia 63 24
716 MTR001 Mature Cataract 24
717 c LBR006 Leber Congenital Amaurosis 11 24
718 P IDP049 Idiopathic Anterior Uveitis 23
719 CCT001 Cicatricial Ectropion 23
720 STC009 Stickler Sydrome, Type I, Nonsyndromic Ocular 23
721 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
722 MGL026 Megalocornea 1, X-Linked 23
723 c RTN117 Retinitis Pigmentosa 57 23
724 BTT011 Butterfly-Shaped Pigment Dystrophy 23
725 TRM002 Traumatic Glaucoma 23
726 PRT101 Poretti-Boltshauser Syndrome 23
727 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 23
728 c SPS091 Spastic Paraplegia 4 23
729 VTR002 Vitreous Syneresis 23
730 c MCR228 Microphthalmia, Syndromic 13 23
731 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 23
732 CNR024 Cone-Rod Dystrophy 13 23
733 c SPS020 Spastic Paraplegia 1 23
734 CNR012 Cone-Rod Dystrophy 11 23
735 CTR135 Cataract 40, X-Linked 23
736 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 23
737 PNP001 Panophthalmitis 23
738 PHK008 Phakomatosis Cesioflammea 23
739 SPR019 Superficial Keratitis 23
740 SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 23
741 c NGH017 Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 23
742 ANT069 Anterior Segment Dysgenesis 7, with Sclerocornea 23
743 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
744 ISL089 Isolated Scaphocephaly 23
745 c MCL071 Macular Dystrophy, Patterned, 2 23
746 P RTN102 Retinitis Pigmentosa, Y-Linked 23
747 c NGH013 Night Blindness, Congenital Stationary , 1f, Autosomal Recessive 23
748 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
749 c PRP091 Porphyria Cutanea Tarda, Type I 23
750 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 23
751 c GLC079 Glaucoma 1, Open Angle, P 23
752 PNC012 Punctate Epithelial Keratoconjunctivitis 23
753 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 23
754 CLR064 Colorblindness, Tritan 23
755 P PST016 Posterior Polar Cataract 23
756 P ACT028 Acute Closed-Angle Glaucoma 23
757 c FML324 Familial Porphyria Cutanea Tarda 23
758 c MCR217 Microphthalmia, Syndromic 11 23
759 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 23
760 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 23
761 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 22
762 c CTR123 Cataract 24, Anterior Polar 22
763 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
764 c MYS065 Myasthenic Syndrome, Congenital, 18 22
765 c MCL061 Macular Dystrophy, Vitelliform, 4 22
766 c SPS039 Spastic Paraplegia 5a 22
767 c CTR166 Cataract 33, Multiple Types 22
768 c CHR060 Chronic Dacryocystitis 22
769 c MYS070 Myasthenic Syndrome, Congenital, 19 22
770 CRN004 Corneal Abscess 22
771 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
772 c CTR160 Cataract 45 22
773 CNR030 Cone-Rod Dystrophy 20 22
774 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 22
775 NCL001 Nuclear Senile Cataract 22
776 P PTT054 Patterned Macular Dystrophy 22
777 c CTR105 Cataract 12, Multiple Types 22
778 LVY002 Levy-Shanske Syndrome 22
779 c SPS027 Spastic Paraplegia 17 22
780 MCH006 Mechanical Strabismus 22
781 FVL006 Foveal Hypoplasia 1 22
782 c ANT074 Anterior Segment Dysgenesis 5, Multiple Subtypes 22
783 PSD004 Pseudomembranous Conjunctivitis 22
784 c MCL056 Macular Dystrophy, Vitelliform, 5 22
785 c WLL025 Weill-Marchesani Syndrome 3, Recessive 22
786 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 22
787 c CTS031 Cutis Laxa, Autosomal Dominant 2 22
788 c CTR144 Cataract 43 22
789 BSL040 Basel-Vanagait-Smirin-Yosef Syndrome 22
790 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 22
791 c MCL065 Macular Degeneration, Age-Related, 15 22
792 c CTR139 Cataract 42 22
793 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 22
794 DPK001 Deep Keratitis 22
795 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 22
796 BTH002 Bothnia Retinal Dystrophy 22
797 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 22
798 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 22
799 CRN010 Corneal Granular Dystrophy 22
800 c MCL044 Macular Degeneration, Age-Related, 9 21
801 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
802 RTN158 Retinitis Pigmentosa with or Without Situs Inversus 21
803 c ANT072 Anterior Segment Dysgenesis 3, Multiple Subtypes 21
804 c CTR109 Cataract 38, Autosomal Recessive 21
805 c RTN161 Retinitis Pigmentosa, X-Linked Recessive, 6 21
806 TRB005 Traboulsi Syndrome 21
807 TTR019 Tetrasomy 5p 21
808 MCR220 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 21
809 c CTR101 Cataract 39, Multiple Types, Autosomal Dominant 21
810 c RTN180 Retinitis Pigmentosa 74 21
811 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 21
812 c ACH038 Achromatopsia 7 21
813 NWF001 Newfoundland Rod-Cone Dystrophy 21
814 CRN128 Corneal Dystrophy, Endothelial, X-Linked 21
815 ISL087 Isolated Oxycephaly 21
816 DCR002 Dacryocystocele 21
817 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
818 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
819 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 21
820 MLY007 Molybdenum Cofactor Deficiency C 21
821 RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 21
822 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
823 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
824 P GLC060 Glaucoma 1, Open Angle, G 20
825 INT012 Interval Angle-Closure Glaucoma 20
826 c RP6001 Rpe65-Related Leber Congenital Amaurosis 20
827 c RTN063 Retinitis Pigmentosa 34 20
828 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
829 ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 20
830 c CHR059 Chronic Endophthalmitis 20
831 ABN001 Abnormal Retinal Correspondence 20
832 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 20
833 c RTN190 Retinitis Pigmentosa 76 20
834 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 20
835 ANS002 Aniseikonia 20
836 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
837 CRN023 Corneal Deposit 20
838 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 20
839 c MCL026 Macular Dystrophy, Retinal, 3 20
840 c GLC054 Glaucoma 3, Primary Congenital, D 20
841 c SPS028 Spastic Paraplegia 18 20
842 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 20
843 DRM043 Dermochondrocorneal Dystrophy 20
844 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 20
845 c SPS034 Spastic Paraplegia 26 20
846 MRG001 Morgagni Cataract 20
847 c SPS042 Spastic Paraplegia 9 20
848 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 20
849 c RTN196 Retinitis Pigmentosa 78 20
850 c RTN148 Retinitis Pigmentosa 63 20
851 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
852 P ERL043 Early-Onset Nuclear Cataract 20
853 PHC001 Phacolytic Glaucoma 20
854 c APL013 Aipl1-Related Leber Congenital Amaurosis 19
855 AMT001 Ametropic Amblyopia 19
856 c RTN061 Retinitis Pigmentosa 32 19
857 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 19
858 EXT029 Extraocular Retinoblastoma 19
859 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 19
860 c SPS023 Spastic Paraplegia 13 19
861 c SPS054 Spastic Paraplegia 35 19
862 c CTR128 Cataract 33 19
863 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 19
864 CNR026 Cone-Rod Dystrophy 18 19
865 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 19
866 c CTR163 Cataract 46, Juvenile-Onset 19
867 PRL018 Purulent Endophthalmitis 19
868 c STC007 Stickler Syndrome, Type 3 19
869 SPS087 Spasmus Nutans 19
870 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 19
871 GST054 Gustavson Syndrome 19
872 DYS096 Dyskeratosis, Hereditary Benign Intraepithelial 19
873 PRL006 Paralytic Lagophthalmos 19
874 ORB008 Orbital Plasma Cell Granuloma 19
875 CNR023 Cone-Rod Dystrophy 8 19
876 PHC002 Phacogenic Glaucoma 19
877 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 19
878 CNJ004 Conjunctival Pigmentation 19
879 P MCL058 Macular Degeneration, Early-Onset 19
880 c SPS022 Spastic Paraplegia 12 19
881 c RTN195 Retinitis Pigmentosa 79 19
882 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 19
883 ESS005 Essential Iris Atrophy 19
884 SNL001 Senile Entropion 18
885 RTN185 Retinal Dysplasia, Primary 18
886 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 18
887 c NGH022 Night Blindness, Congenital Stationary, Type 1g 18
888 c CTR159 Cataract 35 18
889 c CTR097 Cataract 34, Multiple Types 18
890 c CTR157 Cataract 28 18
891 RTN004 Retinal Microaneurysm 18
892 c CTR119 Cataract 32, Multiple Types 18
893 P OGC003 Oguchi Disease-1 18
894 c ANT070 Anterior Segment Dysgenesis 6, Multiple Subtypes 18
895 c CNT026 Central Corneal Ulcer 18
896 CRN007 Corneal Staphyloma 18
897 HYP307 Hypertrichosis, Congenital Generalized 18
898 c GLC048 Glaucoma 1, Open Angle, I 18
899 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 18
900 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 18
901 P MNS011 Monosomy 9q22.3 18
902 c NGH024 Night Blindness, Congenital Stationary, Type 1h 18
903 RTN170 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 18
904 c SPS033 Spastic Paraplegia 25 18
905 c GLC083 Glaucoma 3, Primary Infantile, B 18
906 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 18
907 SLR002 Solar Retinopathy 18
908 CTR107 Cataract 13 with Adult I Phenotype 18
909 c CRN068 Corneal Endothelial Dystrophy Type 2 18
910 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 18
911 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 18
912 c OGC004 Oguchi Disease-2 18
913 IDP006 Idiopathic Corneal Edema 18
914 c MYS067 Myasthenic Syndrome, Congenital, 22 18
915 SZR021 Seizures, Cortical Blindness, Microcephaly Syndrome 17
916 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 17
917 SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 17
918 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 17
919 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 17
920 PHL001 Phlyctenulosis 17
921 ULC003 Ulcerative Blepharitis 17
922 DST044 Distal Trisomy 14q 17
923 ISL084 Isolated Trigonocephaly 17
924 OPH014 Ophthalmomandibulomelic Dysplasia 17
925 BRN041 Bornholm Eye Disease 17
926 c SPN203 Spinocerebellar Ataxia, X-Linked 5 17
927 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 17
928 c RTN192 Retinitis Pigmentosa 77 17
929 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 17
930 SCL011 Sclerosing Keratitis 17
931 EPB002 Epiblepharon 17
932 c MLT069 Multiple Mitochondrial Dysfunctions Syndrome 2 17
933 c CTR127 Cataract 19 17
934 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 17
935 HYP683 Hypogonadism-Cataract Syndrome 17
936 DST036 Distal Trisomy 15q 17
937 c GLC059 Glaucoma 1, Open Angle, 1o 17
938 c CTR110 Cataract 26, Multiple Types 17
939 MCR307 Microspherophakia-Metaphyseal Dysplasia 16
940 c SPS037 Spastic Paraplegia 31 16
941 CNJ011 Conjunctival Deposit 16
942 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 16
943 CNR029 Cone-Rod Dystrophy 19 16
944 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 16
945 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 16
946 c SPS175 Spastic Paraplegia 49 16
947 c EFM001 Efemp2-Related Cutis Laxa 16
948 CRN126 Corneal Dystrophy, Lisch Epithelial 16
949 ARG003 Argyll Robertson Pupil 16
950 c HRN024 Horner Syndrome, Congenital 16
951 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 16
952 c SPS064 Spastic Paraplegia 45 16
953 c INF152 Infectious Posterior Uveitis 16
954 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 16
955 c SPN363 Spinocerebellar Ataxia, X-Linked 4 16
956 PLS001 Pulsating Exophthalmos 16
957 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 16
958 SCL008 Scleromalacia Perforans 16
959 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 16
960 c SPS024 Spastic Paraplegia 14 16
961 c SPS038 Spastic Paraplegia 39 16
962 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 16
963 MNF001 Monofixation Syndrome 16
964 CCT003 Cicatricial Entropion 16
965 CNR027 Cone-Rod Dystrophy 17 16
966 c CHR088 Chronic Inflammation of Lacrimal Passage 16
967 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 16
968 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 16
969 MNS013 Monosomy 13q34 16
970 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 16
971 c ADL071 Adult Krabbe Disease 15
972 MTR058 Maternally-Inherited Progressive External Ophthalmoplegia 15
973 c SPS173 Spastic Paraplegia 43 15
974 CMB076 Combined Oxidative Phosphorylation Deficiency 31 15
975 CLS047 Classic Progressive Supranuclear Palsy Syndrome 15
976 ACC002 Accommodative Spasm 15
977 AQS001 Aqueous Misdirection 15
978 FCL013 Focal Chorioretinitis 15
979 c SPS035 Spastic Paraplegia 29 15
980 c SPS080 Spastic Paraplegia 51 15
981 c ALD008 Aldh18a1-Related Cutis Laxa 15
982 c RLB001 Rlbp1-Related Fundus Albipunctatus 15
983 MYP060 Myopic Macular Degeneration 15
984 MRG002 Marginal Corneal Ulcer 15
985 c SPS174 Spastic Paraplegia 46 15
986 HYP062 Hypopyon Ulcer 15
987 GNR029 Generalized Galactose Epimerase Deficiency 15
988 EXP003 Exophthalmic Ophthalmoplegia 15
989 OCL057 Oculotrichodysplasia 15
990 c CRN280 Cornea Plana 2, Autosomal Recessive 15
991 CHN047 Chondroectodermal Dysplasia with Night Blindness 15
992 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 15
993 NND003 Non-Distal Trisomy 10q 14
994 c CTR040 Cataracts, Autosomal Recessive 14
995 NNH011 Non-Hereditary Retinoblastoma 14
996 HRD017 Hordeolum Externum 14
997 c SPS026 Spastic Paraplegia 16 14
998 c SPS161 Spastic Paraplegia 32 14
999 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 14
1000 PRS110 Persistent Placoid Maculopathy 14
1001 CHM001 Cahmr Syndrome 14
1002 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 14
1003 c KCN007 Kcnj13-Related Leber Congenital Amaurosis 14
1004 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 14
1005 PDT010 Pediatric Intraocular Retinoblastoma 14
1006 PDT013 Pediatric Extraocular Retinoblastoma 14
1007 c SPS052 Spastic Paraplegia 30 14
1008 ORB018 Orbital Leiomyoma 14
1009 NSL017 Nasolacrimal Duct Cyst 14
1010 ALT003 Alternating Exotropia 14
1011 P ACT077 Acute Orbital Inflammation 14
1012 ALT004 Alternating Esotropia 14
1013 c GLC089 Glaucoma 3, Primary Congenital, E 14
1014 c GLC032 Glaucoma, Hereditary 14
1015 IGG009 Igg4-Related Ophthalmic Disease 14
1016 c SCN003 Secondary Corneal Edema 14
1017 c SPS165 Spastic Paraplegia 47 14
1018 c SPS181 Spastic Paraplegia 72 14
1019 c SPS056 Spastic Paraplegia 44 14
1020 c HRD187 Hereditary Spastic Paraplegia 62 13
1021 c HRD188 Hereditary Spastic Paraplegia 72 13
1022 CYC003 Cyclotropia 13
1023 ORB019 Orbital Margin, Hypoplasia of 13
1024 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 13
1025 c PFF008 Pfeiffer Syndrome Type 1, 2 and 3 13
1026 c USH016 Usher Syndrome Type 1h 13
1027 c LTD001 Late-Adult Onset Retinitis Pigmentosa 13
1028 c CNG169 Congenital Stationary Night Blindness, Type 2b 13
1029 c CTR100 Cataract 27, Nuclear Progressive 13
1030 MYC004 Mycotic Corneal Ulcer 13
1031 c SPS053 Spastic Paraplegia 33 13
1032 c SPS177 Spastic Paraplegia 54 13
1033 c SPS179 Spastic Paraplegia 57 13
1034 c SPS180 Spastic Paraplegia 61 13
1035 c SPS029 Spastic Paraplegia 19 13
1036 ACT038 Acute Retrobulbar Neuritis 13
1037 c ABC007 Abca4-Related Retinitis Pigmentosa 13
1038 DST082 Distal Trisomy 10q 13
1039 EPT024 Epithelial-Stromal Tgfbi Dystrophy 13
1040 c RP9001 Rp9-Related Retinitis Pigmentosa 13
1041 c SPS166 Spastic Paraplegia 50 13
1042 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 13
1043 c SPS032 Spastic Paraplegia 24 13
1044 c PRP077 Prpf8-Related Retinitis Pigmentosa 13
1045 c RP1001 Rp1-Related Retinitis Pigmentosa 13
1046 ENC040 Encephalopathy Due to Sulfite Oxidase Deficiency 13
1047 c CTR025 Cataract, Total Congenital 13
1048 EPT023 Epithelial and Subepithelial Dystrophy 13
1049 c CRN279 Cornea Plana 1, Autosomal Dominant 12
1050 c LTB003 Ltbp4-Related Cutis Laxa 12
1051 c RP2001 Rp2-Related Retinitis Pigmentosa 12
1052 ANG003 Angelucci's Syndrome 12
1053 PHC015 Phacoanaphylactic Uveitis 12
1054 c SPS164 Spastic Paraplegia 28 12
1055 c SPS055 Spastic Paraplegia 42 12
1056 c SPS167 Spastic Paraplegia 52 12
1057 c SPS178 Spastic Paraplegia 55 12
1058 c SPS168 Spastic Paraplegia 56 12
1059 c IDP048 Idiopathic Posterior Uveitis 12
1060 INT008 Intermittent Squint 12
1061 BLT023 Bilateral Acute Depigmentation of the Iris 12
1062 CNJ002 Conjunctival Folliculosis 12
1063 c C4R001 Ca4-Related Retinitis Pigmentosa 12
1064 c CRB083 Crb1-Related Retinitis Pigmentosa 12
1065 c EYS001 Eys-Related Retinitis Pigmentosa 12
1066 c FM1001 Fam161a-Related Retinitis Pigmentosa 12
1067 c IMP010 Impdh1-Related Retinitis Pigmentosa 12
1068 c PRP078 Prpf3-Related Retinitis Pigmentosa 12
1069 c PRP042 Prpf31-Related Retinitis Pigmentosa 12
1070 c TPR001 Topors-Related Retinitis Pigmentosa 12
1071 IDP047 Idiopathic Panuveitis 12
1072 TRN011 Transient Refractive Change 12
1073 P CNT006 Central Pterygium 12
1074 c NR2001 Nr2e3-Related Retinitis Pigmentosa 12
1075 c SM4001 Sema4a-Related Retinitis Pigmentosa 12
1076 c TTC003 Ttc8-Related Retinitis Pigmentosa 12
1077 c USH013 Ush2a-Related Retinitis Pigmentosa 12
1078 c RHZ009 Rhizomelic Chondrodysplasia Punctata Spectrum 12
1079 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 12
1080 CLF040 Cleft Lip-Retinopathy Syndrome 12
1081 c SPS076 Spastic Paraplegia 48 11
1082 c SPS140 Spastic Paraplegia 64 11
1083 c SPS182 Spastic Paraplegia 75 11
1084 c SPS201 Spastic Paraplegia 76 11
1085 ERL036 Early-Onset Posterior Subcapsular Cataract 11
1086 c ACT030 Acute Dacryoadenitis 11
1087 P ACT070 Acute Inflammation of Lacrimal Passage 11
1088 P IDP065 Idiopathic Macular Telangiectasia Type 1 11
1089 MNC001 Monocular Esotropia 11
1090 LTR005 Lateral Displacement of Eye 11
1091 c SCN004 Secondary Vitreoretinal Degeneration 11
1092 c OFD002 Ofd1-Related Retinitis Pigmentosa 11
1093 c RHR001 Rho-Related Retinitis Pigmentosa 11
1094 CNG335 Congenital Ectropion Uveae 11
1095 INF115 Infectious Epithelial Keratitis 11
1096 c CTR146 Cataract, Autosomal Dominant Congenital 4 11
1097 STB001 Stable Condition Keratoconus 11
1098 DBL001 Double Pterygium 11
1099 c SCL053 Sclerocornea, Autosomal Dominant 11
1100 INT176 Intraocular Medulloepithelioma 11
1101 c CL1002 Col11a2-Related Stickler Syndrome 11
1102 c ARL005 Arl6-Related Retinitis Pigmentosa 11
1103 c BBS010 Bbs2-Related Retinitis Pigmentosa 11
1104 c C2R001 C2orf71-Related Retinitis Pigmentosa 11
1105 c CRK002 Cerkl-Related Retinitis Pigmentosa 11
1106 c DHD001 Dhdds-Related Retinitis Pigmentosa 11
1107 c FSC005 Fscn2-Related Retinitis Pigmentosa 11
1108 c IDH001 Idh3b-Related Retinitis Pigmentosa 11
1109 c IMP011 Impg2-Related Retinitis Pigmentosa 11
1110 c MKR001 Mak-Related Retinitis Pigmentosa 11
1111 c MRT008 Mertk-Related Retinitis Pigmentosa 11
1112 c NRL010 Nrl-Related Retinitis Pigmentosa 11
1113 c PD6002 Pde6b-Related Retinitis Pigmentosa 11
1114 c PRC028 Prcd-Related Retinitis Pigmentosa 11
1115 c PRM085 Prom1-Related Retinitis Pigmentosa 11
1116 c PRP043 Prpf6-Related Retinitis Pigmentosa 11
1117 c RDH002 Rdh12-Related Retinitis Pigmentosa 11
1118 c RP6002 Rpe65-Related Retinitis Pigmentosa 11
1119 c SLC032 Slc7a14-Related Retinitis Pigmentosa 11
1120 c TLP004 Tulp1-Related Retinitis Pigmentosa 11
1121 c ZNF001 Znf513-Related Retinitis Pigmentosa 11
1122 VCL007 Vocal Cord Paralysis and Ptosis 11
1123 NDL008 Nodular Episcleritis 11
1124 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 11
1125 CNT088 Central Cloudy Dystrophy of Francois 11
1126 c CRN107 Corneal Endothelial Dystrophy 2, Autosomal Recessive 11
1127 c SPS199 Spastic Paraplegia 59 11
1128 PRP014 Peripheral Degeneration of Cornea 11
1129 c SPN114 Spinocerebellar Ataxia X-Linked Type 2 11
1130 BLN007 Blind Hypertensive Eye 11
1131 c PYC002 Pycr1-Related Cutis Laxa 11
1132 ORB003 Orbital Tenonitis 11
1133 c ACQ002 Acquired Night Blindness 11
1134 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 10
1135 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 10
1136 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 10
1137 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 10
1138 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 10
1139 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 10
1140 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 10
1141 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 10
1142 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 10
1143 c CL1001 Col11a1-Related Stickler Syndrome 10
1144 PSD006 Pseudopterygium 10
1145 CRN002 Corneal Argyrosis 10
1146 PRD026 Pre-Descemet Corneal Dystrophy 10
1147 P DMN038 Dominant Pericentral Pigmentary Retinopathy 10
1148 THY013 Thyrotoxic Exophthalmos 10
1149 MCH001 Mechanical Ectropion 10
1150 c CHR323 Chrna1-Related Congenital Myasthenic Syndrome 10
1151 CNG357 Congenital Symblepharon 10
1152 BLN008 Blind Hypotensive Eye 10
1153 BRD008 Borderline Glaucoma 10
1154 c AGB001 Agbl5-Related Retinitis Pigmentosa 10
1155 c ARL007 Arl2bp-Related Retinitis Pigmentosa 10
1156 c C8R001 C8orf37-Related Retinitis Pigmentosa 10
1157 c KZR001 Kiz-Related Retinitis Pigmentosa 10
1158 c KLH001 Klhl7-Related Retinitis Pigmentosa 10
1159 c PRP092 Prpf4-Related Retinitis Pigmentosa 10
1160 c PRP047 Prph2-Related Retinitis Pigmentosa 10
1161 PRM009 Primary Eye Hypotony 10
1162 c SPS176 Spastic Paraplegia 53 10
1163 c SPS169 Spastic Paraplegia 66 10
1164 MCL004 Macular Keratitis 10
1165 c CL2002 Col2a1-Related Stickler Syndrome 10
1166 c CL9002 Col9a1-Related Stickler Syndrome 10
1167 c CL9004 Col9a2-Related Stickler Syndrome 10
1168 c SPS040 Spastic Paraplegia 5b 10
1169 c VTR009 Vitreoretinochoroidopathy Dominant 10
1170 c SYT001 Syt2-Related Congenital Myasthenic Syndrome 10
1171 c INF151 Infectious Panuveitis 10
1172 c GLC049 Glaucoma, Primary Open Angle, Juvenile-Onset, 2 10
1173 c NMN007 Nmnat1-Related Leber Congenital Amaurosis 10
1174 c PST012 Posterior Corneal Pigmentation 10
1175 OPH003 Ophthalmia Nodosa 10
1176 ERY043 Euryblepharon 10
1177 MCR317 Macrophthalmia, Colobomatous, with Microcornea 9
1178 c ATS334 Autosomal Recessive Pericentral Pigmentary Retinopathy 9
1179 CNT011 Contact Blepharoconjunctivitis 9
1180 CNT008 Contact Lens Corneal Edema 9
1181 HYP023 Hypersecretion Glaucoma 9
1182 ANG008 Angioid Streaks of Choroid 9
1183 SPS001 Spastic Ectropion 9
1184 RNG002 Ring Corneal Ulcer 9
1185 c LRT002 Lrat-Related Retinitis Pigmentosa 9
1186 c PD6001 Pde6a-Related Retinitis Pigmentosa 9
1187 c RPG004 Rpgr-Related Retinitis Pigmentosa 9
1188 ERY041 Erythrocyte Galactose Epimerase Deficiency 9
1189 PRG116 Progressive Supranuclear Palsy-Corticobasal Syndrome 9
1190 c FX3002 Foxe3-Related Cataracts, Autosomal Dominant 9
1191 c GLC052 Glaucoma 3, Primary Congenital, C 9
1192 c FBL003 Fbln5-Related Cutis Laxa 9
1193 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 9
1194 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 9
1195 PRS026 Parasitic Conjunctivitis 9
1196 STP001 Staphyloma Posticum 9
1197 c CHR035 Chronic Dacryoadenitis 9
1198 c LTB002 Ltbp2-Related Weill-Marchesani Syndrome 9
1199 PLZ006 Pelizaeus-Merzbacher Disease, Connatal Form 9
1200 c GCY001 Gucy2d-Related Leber Congenital Amaurosis 9
1201 c IQC001 Iqcb1-Related Leber Congenital Amaurosis 9
1202 CNJ008 Conjunctival Concretion 9
1203 HST002 Histoplasmosis Retinitis 9
1204 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 9
1205 c CL1006 Col13a1-Related Congenital Myasthenic Syndrome 9
1206 c SNP001 Snap25-Related Congenital Myasthenic Syndrome 9
1207 c CNG433 Congenital Cornea Plana 9
1208 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 9
1209 c LTN017 Late-Infantile/juvenile Krabbe Disease 9
1210 RTN189 Retinal Capillary Malformation 9
1211 EQT001 Equatorial Staphyloma 9
1212 c AGR012 Agrn-Related Congenital Myasthenic Syndrome 9
1213 P RBN007 Rubinstein Taybi Like Syndrome 9
1214 c APL014 Aipl1-Related Retinitis Pigmentosa 8
1215 c BST006 Best1-Related Retinitis Pigmentosa 8
1216 c CLR032 Clrn1-Related Retinitis Pigmentosa 8
1217 c CNG135 Cnga1-Related Retinitis Pigmentosa 8
1218 c CNG136 Cngb1-Related Retinitis Pigmentosa 8
1219 c CRX002 Crx-Related Retinitis Pigmentosa 8
1220 c GC1001 Guca1b-Related Retinitis Pigmentosa 8
1221 c RBP001 Rbp3-Related Retinitis Pigmentosa 8
1222 c RGR001 Rgr-Related Retinitis Pigmentosa 8
1223 c RM1001 Rom1-Related Retinitis Pigmentosa 8
1224 c SGR002 Sag-Related Retinitis Pigmentosa 8
1225 c SNR009 Snrnp200-Related Retinitis Pigmentosa 8
1226 c SPT009 Spata7-Related Retinitis Pigmentosa 8
1227 P TTL001 Total Internal Ophthalmoplegia 8
1228 RSC002 Rosacea Conjunctivitis 8
1229 c JVN036 Juvenile Sialidosis Type 2 8
1230 c CNG348 Congenital Sialidosis Type 2 8
1231 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 8
1232 CCT004 Cicatricial Lagophthalmos 8
1233 STN002 Stenosis of Lacrimal Punctum 8
1234 DFF011 Diffuse Interstitial Keratitis 8
1235 STR016 Steroid-Induced Glaucoma - Borderline 8
1236 c CHR061 Chronic Canaliculitis 8
1237 c FBN002 Fbn1-Related Weill-Marchesani Syndrome 8
1238 c TBB006 Tubb4a-Related Leukodystrophy 8
1239 c ACH024 Achromatopsia 5 8
1240 c USH011 Usher Syndrome, Type 2b 8
1241 ABN004 Abnormal Pupillary Function 8
1242 ACT168 Acute Annular Outer Retinopathy 8
1243 CNS003 Constant Exophthalmos 8
1244 ETH013 Euthyroid Graves Orbitopathy 8
1245 c CLQ001 Colq-Related Congenital Myasthenic Syndrome 8
1246 c MSK001 Musk-Related Congenital Myasthenic Syndrome 8
1247 c ERL039 Early-Onset Anterior Polar Cataract 8
1248 c SDR001 Siderosis of Eye 8
1249 BLL005 Bullous Retinoschisis 8
1250 c EP3001 Ep300-Related Rubinstein-Taybi Syndrome 8
1251 c RTN181 Retinitis Pigmentosa 2, X-Linked 7
1252 c CYP002 Cyp1b1-Related Primary Congenital Glaucoma 7
1253 c ELN002 Eln-Related Cutis Laxa 7
1254 INV017 Inverse Marcus-Gunn Phenomenon 7
1255 BRW005 Brawny Scleritis 7
1256 FLT003 Flat Retinoschisis 7
1257 LNS002 Lens-Induced Iridocyclitis 7
1258 PLZ007 Pelizaeus-Merzbacher Disease, Classic Form 7
1259 PRG115 Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome 7
1260 SCL050 Scoliosis, Arachnodactyly, and Blindness 7
1261 PST025 Posterior Dislocation of Lens 7
1262 c CP2003 Cep290-Related Leber Congenital Amaurosis 7
1263 c CRB082 Crb1-Related Leber Congenital Amaurosis 7
1264 c CRX001 Crx-Related Leber Congenital Amaurosis 7
1265 c IMP009 Impdh1-Related Leber Congenital Amaurosis 7
1266 c LC5001 Lca5-Related Leber Congenital Amaurosis 7
1267 c LRT001 Lrat-Related Leber Congenital Amaurosis 7
1268 c RD3001 Rd3-Related Leber Congenital Amaurosis 7
1269 c RDH001 Rdh12-Related Leber Congenital Amaurosis 7
1270 c RPG003 Rpgrip1-Related Leber Congenital Amaurosis 7
1271 c SPT008 Spata7-Related Leber Congenital Amaurosis 7
1272 c TLP003 Tulp1-Related Leber Congenital Amaurosis 7
1273 c CTR008 Cataract Congenital Autosomal Dominant 7
1274 PHK009 Phakomatosis Cesiomarmorata 7
1275 RTC006 Reticular Dystrophy of the Retinal Pigment Epithelium 7
1276 OKH001 Okihiro Syndrome Due to a Point Mutation 7
1277 ACQ003 Acquired Tear Duct Stenosis 7
1278 CRT003 Cortical Senile Cataract 7
1279 MRN008 Marin-Amat Syndrome 7
1280 IDP043 Idiopathic Uveal Effusion Syndrome 7
1281 P ANT008 Anterior Corneal Pigmentation 7
1282 c ESS006 Essential Strabismus 7
1283 PRG117 Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome 7
1284 c IDP066 Idiopathic Macular Telangiectasia Type 3 7
1285 TTN002 Tetanic Cataract 7
1286 ANG010 Angular Blepharoconjunctivitis 7
1287 CNT022 Central Gyrate Choroidal Dystrophy 7
1288 c CRB084 Crebbp-Related Rubinstein-Taybi Syndrome 7
1289 MSC089 Mosaic Monosomy X 7
1290 STR006 Stromal Corneal Pigmentation 7
1291 INT026 Intermittent Proptosis 7
1292 NDL004 Nodular Degeneration of Cornea 7
1293 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 7
1294 DST090 Distal Trisomy 2p 6
1295 3Q2004 3q26 Microduplication Syndrome 6
1296 PLZ008 Pelizaeus-Merzbacher Disease, Transitional Form 6
1297 TRS020 Tarsal Kink Syndrome 6
1298 PHK010 Phakomatosis Spilorosea 6
1299 ACT005 Acute Hydrops Keratoconus 6
1300 MCH004 Mechanical Entropion 6
1301 c CHT004 Chat-Related Congenital Myasthenic Syndrome 6
1302 c CHR327 Chrnb1-Related Congenital Myasthenic Syndrome 6
1303 c CHR329 Chrnd-Related Congenital Myasthenic Syndrome 6
1304 c CHR331 Chrne-Related Congenital Myasthenic Syndrome 6
1305 c DK7001 Dok7-Related Congenital Myasthenic Syndrome 6
1306 c GFP001 Gfpt1-Related Congenital Myasthenic Syndrome 6
1307 c RPS001 Rapsn-Related Congenital Myasthenic Syndrome 6
1308 c SCN019 Scn4a-Related Congenital Myasthenic Syndrome 6
1309 RSD002 Residual Stage of Open Angle Glaucoma 6
1310 PHL004 Phlegmonous Dacryocystitis 6
1311 SPP006 Suppurative Uveitis 6
1312 ANT012 Anterior Dislocation of Lens 6
1313 GNC007 Gonococcal Keratitis 6
1314 c LTB001 Ltbp2-Related Primary Congenital Glaucoma 6
1315 ORB005 Orbital Periostitis 6
1316 LXT001 Luxation of Globe 6
1317 SQM003 Squamous Blepharitis 6
1318 SCL005 Scleroperikeratitis 6
1319 P PRM007 Primary Lacrimal Atrophy 6
1320 P ACT026 Acute Canaliculitis 6
1321 c ADM006 Adamts10-Related Weill-Marchesani Syndrome 6
1322 DSS001 Disseminated Chorioretinitis 6
1323 c PSD047 Pseudo-Turner Syndrome 6
1324 MLT117 Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 6
1325 FND005 Fundus Pulverulentus 6
1326 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
1327 TTL003 Total Circumpapillary Dystrophy of Choroid 6
1328 c PRP044 Prph2-Related Adult-Onset Vitelliform Macular Dystrophy 6
1329 c MCR282 Microcephaly and Chorioretinopathy 1 6
1330 c MCR283 Microcephaly and Chorioretinopathy 2 6
1331 c MCR284 Microcephaly and Chorioretinopathy 3 6
1332 LCR003 Lacrimal Passage Granuloma 5
1333 MNC005 Monocular Exotropia 5
1334 STN003 Stenosis of Lacrimal Passage 5
1335 c GLC029 Glaucoma Type 1c 5
1336 PTR027 Peters Anomaly-Cataract Syndrome 5
1337 PLZ009 Pelizaeus-Merzbacher Disease in Female Carriers 5
1338 BWM001 Bowman's Membrane Folds or Rupture 5
1339 ABN003 Abnormal Threshold of Rods 5
1340 EPS002 Episcleritis Periodica Fugax 5
1341 STN001 Stenosis of Lacrimal Sac 5
1342 DFF008 Diffuse Secondary Choroid Atrophy 5
1343 PRG012 Progressive Peripheral Pterygium 5
1344 LCL001 Localized Anterior Staphyloma 5
1345 RSD001 Residual Stage Angle-Closure Glaucoma 5
1346 MYT001 Myotonic Cataract 5
1347 PRT016 Partial Circumpapillary Choroid Dystrophy 5
1348 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 5
1349 c CCN004 Cacna1f-Related X-Linked Congenital Stationary Night Blindness 5
1350 c NYX001 Nyx-Related X-Linked Congenital Stationary Night Blindness 5
1351 GRY003 Grayson-Wilbrandt Corneal Dystrophy 5
1352 PRP012 Peripheral Focal Chorioretinitis 5
1353 VTR004 Vitreous Abscess 5
1354 SNL006 Senile Atrophy of Choroid 5
1355 c GLC035 Glaucoma, Primary Infantile Type 3a 4
1356 CMP057 Complete Cryptophthalmia 4
1357 PRT091 Partial Cryptophthalmia 4
1358 ISL065 Isolated Congenital Alacrima 4
1359 ERL027 Early-Onset Non-Syndromic Cataract 4
1360 ERL042 Early-Onset Partial Cataract 4
1361 MCH005 Mechanical Lagophthalmos 4
1362 RTN009 Retinal Dystrophies Primarily Involving Bruch's Membrane 4
1363 ANT015 Anatomical Narrow Angle Borderline Glaucoma 4
1364 P EPP002 Epiphora Due to Excess Lacrimation 4
1365 c SCN002 Secondary Lacrimal Atrophy 4
1366 GNC004 Gonococcal Iridocyclitis 4
1367 SMP002 Simple Chronic Conjunctivitis 4
1368 GNC008 Gonococcal Endophthalmia 4
1369 c PRP046 Prph2-Related Fundus Albipunctatus 4
1370 c RDH003 Rdh5-Related Fundus Albipunctatus 4
1371 RNG001 Ring Staphyloma 4
1372 PHT005 Phthisical Cornea 4
1373 EVR001 Eversion of Lacrimal Punctum 4
1374 c EPP001 Epiphora Due to Insufficient Drainage 4
1375 RSD003 Residual Stage Corticosteroid-Induced Glaucoma 4
1376 ISL071 Isolated Congenital Ectropion 4
1377 HNY001 Honey-Droplet Corneal Dystrophy 4
1378 IDP050 Idiopathic Linear Interstitial Keratitis 4
1379 DYS010 Dystrophies Primarily Involving the Retinal Pigment Epithelium 4
1380 c GLC033 Glaucoma, Hereditary Adult Type 1a 4
1381 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 4
1382 INT284 Intellectual Disability-Cataracts-Kyphosis Syndrome 4
1383 ATS361 Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome 4
1384 RTN007 Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses 4
1385 c MCR048 Microcephaly Chorioretinopathy Recessive Form 4
1386 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
1387 P CHR168 Chorioretinopathy Dominant Form Microcephaly 4
1388 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 4
1389 PRN060 Paraneoplastic Uveitis 3
1390 c FML317 Familial Monosomy 7 Syndrome 3
1391 c MLT071 Multiple Pterygium Syndrome, Dominant 2
1392 PPL048 Papillorenal Syndrome 51
1393 c MCL042 Macular Degeneration, Age-Related, 1 72
1394 P LBR001 Leber Congenital Amaurosis 62
1395 OPT008 Optic Nerve Neoplasm 37
1396 P USH001 Usher Syndrome 54
1397 c USH006 Usher Syndrome, Type 1b 53
1398 c USH033 Usher Syndrome, Type 3a 44
1399 KRN002 Kearns-Sayre Syndrome 57
1400 RTN015 Retinal Cancer 49
1401 OCL031 Oculo-Cerebral Dysplasia 12
1402 ECZ002 Eczema Herpeticum 42
1403 BRK005 Berk-Tabatznik Syndrome 7
1404 BRD025 Birdshot Chorioretinopathy 48
1405 ALN001 Aland Island Eye Disease 35
1406 OPT007 Optic Nerve Glioma 41
1407 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 35
1408 P HRD161 Hereditary Motor and Sensory Neuropathy Via 33
1409 P SPS008 Spastic Ataxia 33
1410 c SPS072 Spastic Ataxia 1, Autosomal Dominant 28
1411 c SPS212 Spastic Ataxia 5, Autosomal Recessive 26
1412 CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 25
1413 c HRD138 Hereditary Motor and Sensory Neuropathy V 25
1414 c SPS208 Spastic Ataxia 4, Autosomal Recessive 25
1415 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 24
1416 c SPS142 Spastic Ataxia 2, Autosomal Recessive 23
1417 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
1418 c SPS191 Spastic Ataxia 7, Autosomal Dominant 19
1419 c SPS170 Spastic Ataxia 2 16
1420 c SPS162 Spastic Ataxia 1 14
1421 c SPS214 Spastic Ataxia 4 13
1422 c SPS171 Spastic Ataxia 5 13
1423 c SPS163 Spastic Ataxia 3 12
1424 c SPS172 Spastic Ataxia 7 8
1425 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 6
1426 PPL021 Papilledema 47
1427 RTN011 Retina Lymphoma 26
1428 c OPT025 Optic Atrophy 6 23
1429 MLN018 Moloney Syndrome 17
1430 RTN123 Retinochoroidal Coloboma 16
1431 OPT022 Optic Atrophy 1 and Deafness 10
1432 OCL009 Ocular Cancer 58
1433 ETH011 Ethylmalonic Encephalopathy 51
1434 c WRB002 Warburg Micro Syndrome 1 41
1435 3MC003 3mc Syndrome 41
1436 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
1437 P PNT019 Pontocerebellar Hypoplasia 38
1438 c WRB005 Warburg Micro Syndrome 4 36
1439 c PNT029 Pontocerebellar Hypoplasia Type 2d 36
1440 c PNT034 Pontocerebellar Hypoplasia, Type 2e 36
1441 DYN001 Doyne Honeycomb Degeneration of Retina 35
1442 c PNT010 Pontocerebellar Hypoplasia Type 1 33
1443 P WRB001 Warburg Micro Syndrome 33
1444 c PNT037 Pontocerebellar Hypoplasia, Type 3 30
1445 c PNT022 Pontocerebellar Hypoplasia Type 2a 30
1446 c PNT013 Pontocerebellar Hypoplasia Type 4 30
1447 c PNT018 Pontocerebellar Hypoplasia, Type 1b 30
1448 c PNT017 Pontocerebellar Hypoplasia Type 1a 29
1449 c PNT014 Pontocerebellar Hypoplasia Type 5 28
1450 MNT006 Manitoba Oculotrichoanal Syndrome 28
1451 c PNT032 Pontocerebellar Hypoplasia, Type 9 26
1452 KLV001 Kluver-Bucy Syndrome 26
1453 c PNT033 Pontocerebellar Hypoplasia, Type 10 26
1454 c PNT020 Pontocerebellar Hypoplasia Type 2b 26
1455 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
1456 c WRB004 Warburg Micro Syndrome 3 25
1457 c PNT039 Pontocerebellar Hypoplasia, Type 7 23
1458 c PNT021 Pontocerebellar Hypoplasia Type 2c 23
1459 c PNT035 Pontocerebellar Hypoplasia, Type 1c 23
1460 c WRB003 Warburg Micro Syndrome 2 23
1461 c PNT042 Pontocerebellar Hypoplasia, Type 2f 20
1462 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
1463 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 9
1464 c TSN001 Tsen2-Related Pontocerebellar Hypoplasia 8
1465 c TSN002 Tsen34-Related Pontocerebellar Hypoplasia 8
1466 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
1467 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 36
1468 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 28
1469 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 24
1470 WBB001 Webb-Dattani Syndrome 20
1471 LPS006 Lopes Gorlin Syndrome 8
1472 P STH001 Saethre-Chotzen Syndrome 60
1473 P FCS002 Fucosidosis 59
1474 RTN020 Retinal Vascular Disease 47
1475 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 18
1476 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 15
1477 ULR001 Ulerythema Ophryogenesis 14
1478 c FCS008 Fucosidosis Type 1 9
1479 RTN076 Retinopathy, Arteriosclerotic 8
1480 c STH004 Saethre-Chotzen Syndrome, Fgfr2-Related 5
1481 ALG004 Al Gazali Khidr Prem Chandran Syndrome 4
1482 SLN003 Silengo Lerone Pelizza Syndrome 3
1483 PGN001 Pagon Stephan Syndrome 3
1484 OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 2
1485 P RTN008 Retinitis Pigmentosa 80
1486 MRF001 Marfan Syndrome 74
1487 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
1488 FBR012 Fabry Disease 71
1489 P TYS001 Tay-Sachs Disease 70
1490 P MTC003 Metachromatic Leukodystrophy 70
1491 KRT004 Keratitis 70
1492 CRZ001 Crouzon Syndrome 70
1493 P KRB001 Krabbe Disease 69
1494 P LYM118 Lymphoma 69
1495 WRN001 Werner Syndrome 68
1496 APR006 Apert Syndrome 68
1497 P PSD087 Pseudoxanthoma Elasticum 67
1498 P TBR001 Tuberous Sclerosis 67
1499 P ANR002 Aniridia 66
1500 CHR012 Chronic Granulomatous Disease 66
1501 P NMN002 Niemann-Pick Disease 66
1502 GLC006 Galactosemia 66
1503 CHD001 Chediak-Higashi Syndrome 65
1504 P TRN020 Turner Syndrome 65
1505 c MCP037 Mucopolysaccharidosis is 65
1506 P CRN015 Cornelia De Lange Syndrome 64
1507 P MCL013 Mucolipidosis Iv 64
1508 P BRD002 Bardet-Biedl Syndrome 64
1509 c MCP003 Mucopolysaccharidosis Vii 63
1510 P OST001 Osteopetrosis 63
1511 CNR002 Cone-Rod Dystrophy 63
1512 P GCH001 Gaucher's Disease 63
1513 CRB011 Cerebrotendinous Xanthomatosis 62
1514 c MCP009 Mucopolysaccharidosis Ii 62
1515 BHC003 Behcet Syndrome 62
1516 P FRD001 Friedreich Ataxia 62
1517 WLL001 Williams-Beuren Syndrome 62
1518 c MCP024 Mucopolysaccharidosis Type Vi 61
1519 P HRM001 Hermansky-Pudlak Syndrome 61
1520 LDD001 Ladd Syndrome 60
1521 P UVL004 Uveal Melanoma 60
1522 MCR013 Microphthalmia 59
1523 PTR032 Peters-Plus Syndrome 59
1524 KRT001 Keratoconjunctivitis Sicca 59
1525 c NMN013 Niemann-Pick Disease, Type a 58
1526 c MCP001 Mucopolysaccharidosis Iii 58
1527 CTS003 Coats Disease 58
1528 PBL001 Piebaldism 57
1529 P RTH001 Rothmund-Thomson Syndrome 57
1530 P RTN025 Retinoschisis 57
1531 c MYT020 Myotonic Dystrophy 2 57
1532 P OCL013 Oculodentodigital Dysplasia 57
1533 P STC001 Stickler Syndrome 56
1534 MVL001 Mevalonic Aciduria 56
1535 P WRD001 Waardenburg's Syndrome 56
1536 P STR022 Stargardt Disease 56
1537 P EPD009 Epidermolysis Bullosa Dystrophica 56
1538 c SPN294 Spinocerebellar Ataxia 1 56
1539 c BRD010 Bardet-Biedl Syndrome 1 55
1540 ALS001 Alstrom Syndrome 55
1541 c TYR012 Tyrosinemia, Type I 55
1542 VGT001 Vogt-Koyanagi-Harada Disease 55
1543 P SPN301 Spinocerebellar Ataxia 2 55
1544 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 55
1545 c TBR024 Tuberous Sclerosis-1 55
1546 P HLL001 Hallermann-Streiff Syndrome 55
1547 ALK013 Alkaptonuria 54
1548 P KBK002 Kabuki Syndrome 1 54
1549 c MNN025 Mannosidosis, Alpha-, Types I and Ii 54
1550 CHR081 Choroideremia 54
1551 P STS008 Sotos Syndrome 1 54
1552 P TRC072 Treacher Collins Syndrome 1 54
1553 CLB001 Coloboma 54
1554 HMF006 Hemifacial Microsomia 54
1555 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53
1556 c PRX045 Peroxisome Biogenesis Disorder 1b 53
1557 c MCR115 Microvascular Complications of Diabetes 5 53
1558 P MCR129 Microvascular Complications of Diabetes 1 52
1559 P LPC002 Lip Cancer 52
1560 c PSD066 Pseudohypoparathyroidism, Type Ib 52
1561 c GNG001 Gangliosidosis Gm1 52
1562 c WRD030 Waardenburg Syndrome, Type 1 52
1563 c SPN293 Spinocerebellar Ataxia 12 52
1564 c STR084 Stargardt Disease 1 52
1565 VRN004 Vernal Keratoconjunctivitis 52
1566 c NMN015 Niemann-Pick Disease, Type C1 51
1567 c INS002 in Situ Carcinoma 51
1568 SND007 Sandhoff Disease, Infantile, Juvenile, and Adult Forms 51
1569 c SPN291 Spinocerebellar Ataxia 7 51
1570 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 51
1571 NRM003 Norum Disease 51
1572 P AXN002 Axenfeld-Rieger Syndrome 51
1573 CHR101 Char Syndrome 50
1574 c BRD014 Bardet-Biedl Syndrome 2 50
1575 PRR016 Pierre Robin Syndrome 50
1576 MLL012 Miller Syndrome 50
1577 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 50
1578 c SPN314 Spinocerebellar Ataxia 10 50
1579 PTS001 Patau Syndrome 50
1580 c MCL062 Mucolipidosis Ii Alpha/beta 50
1581 ALL009 Allergic Conjunctivitis 50
1582 DPM001 Dopamine Beta-Hydroxylase Deficiency 49
1583 P NRD007 Neurodegeneration with Brain Iron Accumulation 49
1584 KRT002 Keratomalacia 49
1585 ACR012 Aicardi Syndrome 49
1586 CRD002 Cri-Du-Chat Syndrome 49
1587 ICH054 Ichthyosis, X-Linked 49
1588 c ALB021 Albinism, Oculocutaneous, Type Ii 49
1589 c SPN312 Spinocerebellar Ataxia 14 49
1590 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
1591 GLC012 Galactosialidosis 49
1592 SRS007 Sorsby Fundus Dystrophy 49
1593 c MCP041 Mucopolysaccharidosis Type Iiia 48
1594 c BRD011 Bardet-Biedl Syndrome 10 48
1595 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
1596 P WLL002 Weill-Marchesani Syndrome 48
1597 P KRT007 Keratoconus 48
1598 c BRD012 Bardet-Biedl Syndrome 11 48
1599 P MYT002 Myotonic Dystrophy 48
1600 PPL046 Popliteal Pterygium Syndrome 1 47
1601 FRB001 Farber Lipogranulomatosis 47
1602 CNR007 Cone-Rod Dystrophy 6 47
1603 c BRD013 Bardet-Biedl Syndrome 12 47
1604 CGN006 Cogan Syndrome 47
1605 MCL002 Macular Corneal Dystrophy 47
1606 CCT002 Cicatricial Pemphigoid 47
1607 c SPN296 Spinocerebellar Ataxia 17 47
1608 c SPN309 Spinocerebellar Ataxia 6 47
1609 CYT005 Cytomegalovirus Retinitis 47
1610 c TYR013 Tyrosinemia, Type Ii 47
1611 INT054 Intraocular Lymphoma 47
1612 ATX003 Ataxia with Isolated Vitamin E Deficiency 46
1613 c MCL046 Mucolipidosis Iii Alpha/beta 46
1614 P SCL015 Scleritis 46
1615 c MNN044 Mannosidosis, Beta 46
1616 P PSD015 Pseudohypoparathyroidism 46
1617 FCH001 Fuchs' Endothelial Dystrophy 46
1618 c BRD044 Bardet-Biedl Syndrome 17 45
1619 c SPN311 Spinocerebellar Ataxia 13 45
1620 MSM001 Meesmann Corneal Dystrophy 45
1621 P KRT005 Keratoacanthoma 45
1622 OPS006 Opsoclonus-Myoclonus Syndrome 45
1623 c SPN305 Spinocerebellar Ataxia 11 44
1624 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 44
1625 P TYR004 Tyrosinemia 44
1626 BLP032 Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 44
1627 P SLD010 Sialidosis, Type I 44
1628 c SPN290 Spinocerebellar Ataxia 15 44
1629 c MCR113 Microvascular Complications of Diabetes 3 44
1630 HYP691 Hypomelanosis of Ito 44
1631 c SPN100 Spinocerebellar Ataxia 27 44
1632 c BRD016 Bardet-Biedl Syndrome 4 44
1633 c SPN308 Spinocerebellar Ataxia 28 44
1634 GLC011 Galactose Epimerase Deficiency 44
1635 c BRD015 Bardet-Biedl Syndrome 3 44
1636 CTY001 Cat Eye Syndrome 43
1637 c WRD020 Waardenburg Syndrome, Type 4a 43
1638 CHR008 Choroiditis 43
1639 P DNR001 Duane Retraction Syndrome 43
1640 FSH001 Fish-Eye Disease 43
1641 RTN001 Retinal Vasculitis 43
1642 c LKD015 Leukodystrophy, Hypomyelinating, 3 43
1643 PLS030 Plasminogen Deficiency, Type I 43
1644 c NMN016 Niemann-Pick Disease, Type B 43
1645 HYP099 Hyperferritinemia-Cataract Syndrome 43
1646 c PRM023 Pre-Malignant Neoplasm 43
1647 c CCK005 Cockayne Syndrome, Type a 42
1648 PRS012 Pars Planitis 42
1649 c CRN139 Cornelia De Lange Syndrome 1 42
1650 EST005 Esotropia 42
1651 c BRD033 Bardet-Biedl Syndrome 13 42
1652 c SPN304 Spinocerebellar Ataxia 8 42
1653 c SPN265 Spinocerebellar Ataxia 36 42
1654 NRR001 Neuroretinitis 42
1655 c BRD020 Bardet-Biedl Syndrome 8 42
1656 c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 42
1657 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 42
1658 KFR001 Kufor-Rakeb Syndrome 42
1659 SLF004 Sulfite Oxidase Deficiency 42
1660 P SPS133 Spastic Paraplegia 2, X-Linked 41
1661 ACR058 Acrofacial Dysostosis 1, Nager Type 41
1662 TRP014 Triploidy 41
1663 c MCP026 Mucopolysaccharidosis Type Iiib 41
1664 c BRD048 Bardet-Biedl Syndrome 18 41
1665 BLC001 Blue Cone Monochromacy 41
1666 c LKD010 Leukodystrophy, Hypomyelinating, 2 41
1667 c BRD017 Bardet-Biedl Syndrome 5 41
1668 c TYR011 Tyrosinemia, Type Iii 41
1669 c BRD018 Bardet-Biedl Syndrome 6 41
1670 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 41
1671 P MNN018 Mannosidosis 41
1672 c GLC075 Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset 41
1673 P ATX024 Ataxia-Oculomotor Apraxia 3 41
1674 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
1675 c SPN106 Spinocerebellar Ataxia 5 40
1676 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 40
1677 MRT007 Martsolf Syndrome 40
1678 c CCK006 Cockayne Syndrome, Type B 40
1679 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 40
1680 c GM1004 Gm1-Gangliosidosis, Type I 40
1681 c BRD032 Bardet-Biedl Syndrome 14 40
1682 c MCL016 Mucolipidosis Iii Gamma 40
1683 CHR211 Chromosome 18p Deletion Syndrome 40
1684 SNW001 Snowflake Vitreoretinal Degeneration 39
1685 c BRD035 Bardet-Biedl Syndrome 15 39
1686 OCL069 Ocular Motor Apraxia 39
1687 c SPN103 Spinocerebellar Ataxia 31 39
1688 LRN001 Laurence-Moon Syndrome 39
1689 P OPT048 Opitz-Gbbb Syndrome 39
1690 PGM005 Pigment Dispersion Syndrome 39
1691 c AXN010 Axenfeld-Rieger Syndrome, Type 3 39
1692 MCL027 Macular Dystrophy, Dominant Cystoid 39
1693 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 38
1694 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 38
1695 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 38
1696 c LKD019 Leukodystrophy, Hypomyelinating, 6 38
1697 CHR492 Chromosome 13q14 Deletion Syndrome 38
1698 c SPN097 Spinocerebellar Ataxia 23 38
1699 c PST022 Posterior Uveal Melanoma 38
1700 c EPD044 Epidermolysis Bullosa Dystrophica, Ar 38
1701 CND005 Cone Dystrophy 38
1702 c STC015 Stickler Syndrome, Type I 38
1703 APL002 Aplasia of Lacrimal and Salivary Glands 38
1704 c ATS282 Autosomal Recessive Malignant Osteopetrosis 38
1705 c ALB009 Albinism, Oculocutaneous, Type Ia 37
1706 BRD009 Bradyopsia 37
1707 c SPN094 Spinocerebellar Ataxia 18 37
1708 c NMN014 Niemann-Pick Disease, Type C2 37
1709 c MCR263 Microphthalmia, Syndromic 1 37
1710 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 37
1711 CHN008 Chandler Syndrome 37
1712 CHR078 Chorioretinitis 37
1713 P MRN003 Marinesco-Sjogren Syndrome 37
1714 c WRD032 Waardenburg Syndrome, Type 2a 36
1715 c GM2005 Gm2-Gangliosidosis, Ab Variant 36
1716 MYT022 Myotubular Myopathy, X-Linked 36
1717 c OST126 Osteopetrosis, Autosomal Recessive 1 36
1718 CRN244 Corneal Dystrophy, Schnyder Type 36
1719 c LKD008 Leukodystrophy, Hypomyelinating, 4 36
1720 INF129 Infantile Cerebellar-Retinal Degeneration 36
1721 GNT006 Giant Papillary Conjunctivitis 36
1722 c MCR130 Microvascular Complications of Diabetes 6 36
1723 c OST129 Osteopetrosis, Autosomal Recessive 2 36
1724 BLP004 Blepharophimosis 36
1725 BTT001 Bietti Crystalline Corneoretinal Dystrophy 36
1726 c PRX059 Peroxisome Biogenesis Disorder 1a 36
1727 c ADL001 Adult Lymphoma 35
1728 OPH002 Ophthalmia Neonatorum 35
1729 JBR005 Joubert Syndrome with Ocular Anomalies 35
1730 CNR005 Cone-Rod Dystrophy 3 35
1731 c BRD045 Bardet-Biedl Syndrome 19 35
1732 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 34
1733 c BRD047 Bardet-Biedl Syndrome 16 34
1734 c LKD009 Leukodystrophy, Hypomyelinating, 5 34
1735 c GM1006 Gm1-Gangliosidosis, Type Iii 34
1736 c SPN099 Spinocerebellar Ataxia 26 34
1737 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 34
1738 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 34
1739 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
1740 TKL001 Tukel Syndrome 34
1741 c GM1005 Gm1-Gangliosidosis, Type Ii 34
1742 c SPN299 Spinocerebellar Ataxia 20 34
1743 CNC014 Cancer-Associated Retinopathy 33
1744 CRN247 Corneal Dystrophy, Thiel-Behnke Type 33
1745 c EYL003 Eye Lymphoma 33
1746 c SPN096 Spinocerebellar Ataxia 21 33
1747 c STC013 Stickler Syndrome, Type Ii 33
1748 c SPN105 Spinocerebellar Ataxia 4 33
1749 c PSD104 Pseudohypoparathyroidism, Type Ii 33
1750 LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 33
1751 CNG005 Congenital Aphakia 33
1752 c SPN095 Spinocerebellar Ataxia 19 33
1753 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
1754 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 33
1755 c SPN266 Spinocerebellar Ataxia 35 32
1756 c ALB010 Albinism, Oculocutaneous, Type Ib 32
1757 GLD002 Goldberg-Shprintzen Megacolon Syndrome 32
1758 TLS001 Tolosa-Hunt Syndrome 32
1759 P LTT001 Lattice Corneal Dystrophy 32
1760 c MCP020 Mucopolysaccharidosis Type Iiic 32
1761 c ALG016 Alagille Syndrome 2 32
1762 WRD021 Waardenburg Syndrome/ocular Albinism, Digenic 32
1763 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 32
1764 GLC010 Galactokinase Deficiency with Cataracts 32
1765 CRN237 Corneal Dystrophy, Avellino Type 32
1766 OCL048 Oculoauricular Syndrome 31
1767 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 31
1768 c STS007 Sotos Syndrome 2 31
1769 CRN141 Corneal Dystrophy, Reis-Bucklers Type 31
1770 c FML008 Familial Retinoblastoma 31
1771 c PRX060 Peroxisome Biogenesis Disorder 5a 31
1772 c PRX063 Peroxisome Biogenesis Disorder 2a 30
1773 c WRD031 Waardenburg Syndrome, Type 3 30
1774 SPR034 Superior Limbic Keratoconjunctivitis 30
1775 P GNG010 Gangliosidosis Gm2 30
1776 c BRD019 Bardet-Biedl Syndrome 7 30
1777 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
1778 c KBK003 Kabuki Syndrome 2 30
1779 MCL072 Macular Dystrophy, North Carolina Type 30
1780 HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 30
1781 c SPN104 Spinocerebellar Ataxia 34 30
1782 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 30
1783 NRT011 Neurotrophic Keratopathy 30
1784 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 30
1785 c MCP023 Mucopolysaccharidosis Type Ivb 30
1786 c PRX065 Peroxisome Biogenesis Disorder 3a 30
1787 PCW002 Pcwh Syndrome 30
1788 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 30
1789 LMB008 Limb-Mammary Syndrome 29
1790 c WRD024 Waardenburg Syndrome, Type 4c 29
1791 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 29
1792 FCH002 Fuchs' Heterochromic Uveitis 29
1793 MBM001 Meibomian Cyst 29
1794 P HYP700 Hypomyelinating Leukodystrophy 29
1795 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
1796 c MCP014 Mucopolysaccharidosis Type Iiid 29
1797 c CRN236 Corneal Dystrophy, Lattice Type I 29
1798 c GCH013 Gaucher Disease, Type Iiic 29
1799 c PSD058 Pseudohypoparathyroidism Ic 29
1800 P CTR014 Cataract Microcornea Syndrome 29
1801 c MCR252 Microphthalmia, Syndromic 5 29
1802 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 29
1803 LGH016 Leigh Syndrome, French-Canadian Type 29
1804 c OST134 Osteopetrosis, Autosomal Recessive 6 28
1805 P FRT001 Fourth Cranial Nerve Palsy 28
1806 c KRT029 Keratoconus 1 28
1807 c OST125 Osteopetrosis, Autosomal Dominant 1 28
1808 ECT046 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 28
1809 c WRD019 Waardenburg Syndrome, Type 4b 28
1810 c SPN098 Spinocerebellar Ataxia 25 28
1811 c WRD010 Waardenburg Syndrome Type 4 28
1812 c ALB020 Albinism, Oculocutaneous, Type Iii 28
1813 c CCK003 Cockayne Syndrome Type Ii 28
1814 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 28
1815 c CRN134 Cornelia De Lange Syndrome 2 28
1816 3MT017 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia 28
1817 c CRN135 Cornelia De Lange Syndrome 3 28
1818 CNR031 Cone-Rod Dystrophy, X-Linked, 1 28
1819 c MCR133 Microvascular Complications of Diabetes 4 27
1820 c CHN038 Chondrodysplasia Punctata, X-Linked Recessive 27
1821 c HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 27
1822 PRT032 Partial Central Choroid Dystrophy 27
1823 c PRX054 Peroxisome Biogenesis Disorder 12a 27
1824 OCL033 Oculocerebral Syndrome with Hypopigmentation 27
1825 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 27
1826 MKL001 Mikulicz Disease 27
1827 c PRX055 Peroxisome Biogenesis Disorder 11a 27
1828 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
1829 c FRD006 Friedreich Ataxia 2 27
1830 c MCR245 Microphthalmia, Syndromic 8 27
1831 EDC001 Edict Syndrome 27
1832 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1833 CNR006 Cone-Rod Dystrophy 5 27
1834 FRN022 Frontofacionasal Dysplasia 27
1835 c SPN286 Spinocerebellar Ataxia 40 27
1836 c CRN215 Cornelia De Lange Syndrome 4 27
1837 c CRN209 Cornelia De Lange Syndrome 5 27
1838 RTN035 Retinal Cone Dystrophy 3b 26
1839 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
1840 c SPN284 Spinocerebellar Ataxia 38 26
1841 c OST136 Osteopetrosis, Autosomal Recessive 7 26
1842 c PRX057 Peroxisome Biogenesis Disorder 4a 26
1843 PRG123 Progeroid Syndrome, Neonatal 26
1844 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
1845 CNR038 Cone-Rod Dystrophy, X-Linked, 3 26
1846 c ALB017 Albinism, Oculocutaneous, Type Vi 26
1847 c STR040 Stargardt Disease 3 26
1848 c MCR120 Microvascular Complications of Diabetes 7 26
1849 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 26
1850 c CCK002 Cockayne Syndrome Type I 26
1851 P XLN161 X-Linked Chondrodysplasia Punctata 26
1852 c PRX091 Peroxisome Biogenesis Disorder 8a 26
1853 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
1854 c PRX048 Peroxisome Biogenesis Disorder 10a 25
1855 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 25
1856 c PRX053 Peroxisome Biogenesis Disorder 14b 25
1857 c PRX046 Peroxisome Biogenesis Disorder 7a 25
1858 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 25
1859 c ANR047 Aniridia 2 25
1860 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 25
1861 c SPN372 Spinocerebellar Ataxia 43 25
1862 c PRX052 Peroxisome Biogenesis Disorder 13a 25
1863 c OST120 Osteopetrosis, Autosomal Recessive 5 25
1864 P PRX051 Peroxisome Biogenesis Disorder 6a 25
1865 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 25
1866 c TRC071 Treacher Collins Syndrome 3 24
1867 PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 24
1868 HYP180 Hypertrichosis Lanuginosa Congenita 24
1869 c OST137 Osteopetrosis, Autosomal Recessive 4 24
1870 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1871 c OST106 Osteopetrosis, Autosomal Recessive 8 24
1872 c SPN247 Spinocerebellar Ataxia Type 19/22 24
1873 KRT014 Keratosis Follicularis Spinulosa Decalvans 24
1874 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
1875 c TRC073 Treacher Collins Syndrome 2 24
1876 c MCR112 Microvascular Complications of Diabetes 2 24
1877 IRD003 Iridocorneal Endothelial Syndrome 24
1878 c PRX050 Peroxisome Biogenesis Disorder 9b 24
1879 c CCK004 Cockayne Syndrome Type Iii 24
1880 c SPN102 Spinocerebellar Ataxia 30 23
1881 MLG070 Malignant Iris Melanoma 23
1882 c SPN283 Spinocerebellar Ataxia 37 23
1883 c SPN383 Spinocerebellar Ataxia 42 23
1884 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 23
1885 c STR054 Stargardt Disease 4 23
1886 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23
1887 c BRD021 Bardet-Biedl Syndrome 9 23
1888 c PRX047 Peroxisome Biogenesis Disorder 5b 23
1889 c WRD022 Waardenburg Syndrome, Type 2d 23
1890 ACT120 Acute Zonal Occult Outer Retinopathy 23
1891 CRL001 Cerulean Cataract 23
1892 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 22
1893 c LTT008 Lattice Corneal Dystrophy Type Ii 22
1894 CRN238 Corneal Dystrophy, Epithelial Basement Membrane 22
1895 c ATX033 Ataxia-Oculomotor Apraxia 4 22
1896 TBL025 Tubulointerstitial Nephritis with Uveitis 22
1897 c WRD029 Waardenburg Syndrome, Type 2b 22
1898 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 22
1899 c CRN160 Corneal Dystrophy, Lattice Type Iiia 22
1900 LCR013 Lacrimal Duct Defect 22
1901 c DNR003 Duane Retraction Syndrome 1 22
1902 CRN235 Corneal Dystrophy, Groenouw Type I 22
1903 c BRD050 Bardet-Biedl Syndrome 21 22
1904 c PRX062 Peroxisome Biogenesis Disorder 8b 22
1905 c PRX058 Peroxisome Biogenesis Disorder 4b 22
1906 c PRX043 Peroxisome Biogenesis Disorder 6b 22
1907 SRP002 Serpiginous Choroiditis 22
1908 RNG003 Ring Dermoid of Cornea 22
1909 CNR003 Cone-Rod Dystrophy 1 22
1910 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 22
1911 ELJ001 Elejalde Disease 22
1912 c LKD022 Leukodystrophy, Hypomyelinating, 13 21
1913 MCR067 Microcoria, Congenital 21
1914 PLL009 Pellucid Marginal Degeneration 21
1915 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 21
1916 MCL018 Macular Dystrophy, Concentric Annular 21
1917 c LKD016 Leukodystrophy, Hypomyelinating, 9 21
1918 CHR270 Chromosome 9p Duplication 21
1919 c DNR004 Duane Retraction Syndrome 2 21
1920 c LKD021 Leukodystrophy, Hypomyelinating, 11 21
1921 c EPD043 Epidermolysis Bullosa Dystrophica, Ad 21
1922 CLR122 Ciliary Body Cancer 21
1923 P HYP253 Hypohidrotic Ectodermal Dysplasia, Autosomal 21
1924 RTH002 Rutherfurd Syndrome 21
1925 c PRX056 Peroxisome Biogenesis Disorder 11b 21
1926 c LKD020 Leukodystrophy, Hypomyelinating, 10 20
1927 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 20
1928 CGN001 Cogan-Reese Syndrome 20
1929 GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 20
1930 c SPN323 Spinocerebellar Ataxia 41 20
1931 c CTR164 Cataract 47, Juvenile, with Microcornea 20
1932 c PRX068 Peroxisome Biogenesis Disorder 7b 20
1933 c SPS198 Spastic Paraplegia 16, X-Linked 20
1934 c LKD023 Leukodystrophy, Hypomyelinating, 12 20
1935 c MLN039 Melanoma, Uveal 1 20
1936 c MLN041 Melanoma, Uveal 2 19
1937 PRT015 Partial Third-Nerve Palsy 19
1938 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 19
1939 JRG001 Jorgenson Lenz Syndrome 19
1940 c BBS002 Bbs10-Related Bardet-Biedl Syndrome 19
1941 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 19
1942 CLB009 Coloboma of Iris 19
1943 CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 19
1944 CLB008 Coloboma of Eye Lens 19
1945 CHR167 Chorioretinal Atrophy, Progressive Bifocal 19
1946 c RTH005 Rothmund-Thomson Syndrome Type 2 19
1947 CTR027 Cataract-Glaucoma 19
1948 SBR011 Subaortic Stenosis--Short Stature Syndrome 18
1949 MLG061 Malignant Choroid Melanoma 18
1950 c PRX066 Peroxisome Biogenesis Disorder 3b 18
1951 c STS009 Sotos Syndrome 3 18
1952 CHR252 Chromosome 5p Duplication 18
1953 CHR241 Chromosome 2q24 Microdeletion Syndrome 18
1954 c WRD026 Waardenburg Syndrome, Type 2c 18
1955 SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 18
1956 CLB011 Coloboma of Macula with Type B Brachydactyly 18
1957 c SPN259 Spinocerebellar Ataxia 32 18
1958 RDR002 Rodrigues Blindness 18
1959 c KRT050 Keratoconus 5 18
1960 c SPS062 Spastic Paraplegia 34, X-Linked 18
1961 c STR042 Stargardt Disease, Autosomal Recessive 18
1962 c ANR046 Aniridia 3 18
1963 c PRX064 Peroxisome Biogenesis Disorder 2b 18
1964 c SPN107 Spinocerebellar Ataxia 9 17
1965 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
1966 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 17
1967 c BRD051 Bardet-Biedl Syndrome 20 17
1968 DRM015 Dermoids of Cornea 17
1969 c RTH004 Rothmund-Thomson Syndrome Type 1 17
1970 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 17
1971 c KRT053 Keratoconus 7 17
1972 c FML223 Familial Keratoacanthoma 17
1973 c KRT054 Keratoconus 8 17
1974 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 17
1975 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17
1976 MLG062 Malignant Ciliary Body Melanoma 17
1977 CTR099 Cataract 29, Coralliform 16
1978 c SPN336 Spinocerebellar Ataxia Type 16 16
1979 RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 16
1980 c KRT052 Keratoconus 6 16
1981 c FML303 Familial/multiple Cancer 16
1982 c FRT006 Fourth Cranial Nerve Palsy, Familial Congenital 16
1983 c PRX089 Peroxisome Biogenesis Disorder 10b 16
1984 CTR154 Cataract, Aberrant Oral Frenula, and Growth Retardation 16
1985 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 16
1986 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 16
1987 BLP042 Blepharoptosis, Myopia, and Ectopia Lentis 16
1988 c CHN018 Chondrodysplasia Punctata 2, X-Linked 16
1989 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
1990 GLC088 Glaucoma and Sleep Apnea 16
1991 c DNR005 Duane Retraction Syndrome 3 15
1992