Eye Diseases Category (2363 diseases)


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

# Family MCID Name MIFTS
1 GYR004 Gyrate Atrophy of Choroid and Retina 51
2 c OPT053 Optic Atrophy 1 45
3 LBR002 Leber Hereditary Optic Neuropathy 57
4 P NRM001 Neuromyelitis Optica 67
5 c OPT068 Optic Atrophy 3, Autosomal Dominant 35
6 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 45
7 c 3MT015 3-Methylglutaconic Aciduria, Type I 44
8 c 3MT014 3-Methylglutaconic Aciduria, Type V 40
9 P 3MT007 3-Methylglutaconic Aciduria 38
10 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 37
11 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 23
12 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 17
13 LBR031 Leber Optic Atrophy and Dystonia 43
14 OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 37
15 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 24
16 NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 58
17 CLB003 Coloboma of Optic Nerve 42
18 CLR033 Color Vision Deficiency 37
19 SPT006 Septooptic Dysplasia 54
20 SPT019 Septo-Optic Dysplasia Spectrum 27
21 OLV004 Oliver-Mcfarlane Syndrome 33
22 CRB058 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 21
23 P FVL006 Foveal Hypoplasia 1 23
24 c FVL008 Foveal Hypoplasia 2 22
25 OPT006 Optic Nerve Disease 53
26 c OPT023 Optic Atrophy 2 23
27 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 45
28 P OPT070 Optic Nerve Hypoplasia, Bilateral 42
29 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 40
30 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 38
31 P XLN110 X-Linked Charcot-Marie-Tooth Disease 34
32 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 28
33 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 25
34 OPT001 Optic Disk Drusen 29
35 c MCR124 Microphthalmia, Isolated 1 37
36 P MCR137 Microphthalmia, Isolated 2 27
37 c MCR122 Microphthalmia, Isolated 5 24
38 c MCR211 Microphthalmia, Isolated 6 22
39 c MCR109 Microphthalmia, Isolated 4 22
40 c MCR114 Microphthalmia, Isolated 3 21
41 c MCR219 Microphthalmia, Isolated 8 20
42 c MCR108 Microphthalmia, Isolated 7 17
43 P WLF004 Wolfram Syndrome 61
44 EYL005 Eyelid Disease 39
45 c WLF009 Wolfram Syndrome 2 33
46 LBR030 Leber Optic Atrophy 38
47 BHR001 Behr Syndrome 36
48 SCH038 Schopf-Schulz-Passarge Syndrome 35
49 SPS061 Spastic Paraplegia, Optic Atrophy, and Neuropathy 34
50 TRC055 Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina 15
51 EYL001 Eyelid Neoplasm 27
52 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 20
53 ATS300 Autosomal Dominant Optic Atrophy, Classic Form 18
54 P CLB034 Coloboma, Ocular, Autosomal Dominant 47
55 P BLP003 Blepharospasm 46
56 GPS001 Gapo Syndrome 36
57 P PHS005 Peho Syndrome 36
58 c BLP048 Blepharospasm, Benign Essential 33
59 c CLB022 Coloboma, Ocular, Autosomal Recessive 21
60 OPT071 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 17
61 P AGN002 Agnosia 61
62 OPT009 Optic Neuritis 53
63 BSC005 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 33
64 ICH066 Ichthyosis--Cheek--Eyebrow Syndrome 18
65 c FRM002 Form Agnosia 15
66 c WLF013 Wolfram Syndrome 1 52
67 c NRM008 Neuromyelitis Optica Spectrum Disorder 30
68 CRB159 Cerebral Visual Impairment 26
69 OPT005 Optic Nerve Astrocytoma 10
70 RTN017 Retinal Detachment 59
71 ALN001 Aland Island Eye Disease 39
72 SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 28
73 CHS002 Chiasmal Syndrome 35
74 c OPT064 Optic Atrophy 11 24
75 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 18
76 FLC002 Fleck Retina, Familial Benign 17
77 P RTN016 Retinal Degeneration 56
78 P CLR019 Color Blindness 50
79 ISC002 Ischemic Optic Neuropathy 48
80 TRT020 Tritanopia 42
81 c LTN004 Late-Onset Retinal Degeneration 37
82 VSL003 Visual Agnosia 33
83 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 27
84 VSL002 Visual Epilepsy 27
85 CHL024 Childhood Optic Nerve Glioma 19
86 VSL004 Visual Cortex Disease 18
87 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 16
88 VSL012 Visual Snow Syndrome 14
89 HYP742 Hyperpigmentation of Eyelids 11
90 VNS001 Venous Tributary Occlusion of Retina 7
91 SHR049 Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome 6
92 CHL023 Childhood Optic Tract Astrocytoma 6
93 SCT002 Scotoma 42
94 TRC077 Trichomegaly 40
95 OPT002 Optic Nerve Sheath Meningioma 31
96 P HRD022 Hordeolum 29
97 OPT032 Optic Pathway Glioma 29
98 CVT001 Cavitary Optic Disc Anomalies 28
99 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 25
100 SPL058 Splenomegaly, Cytopenia, and Vision Loss 17
101 c INT047 Internal Hordeolum 14
102 CHR675 Chronic Relapsing Inflammatory Optic Neuropathy 10
103 PRR004 Preretinal Fibrosis 37
104 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 21
105 c OPT024 Optic Atrophy 5 16
106 ADT008 Auditory Neuropathy and Optic Atrophy 16
107 BNC002 Binocular Vision Disease 13
108 RTN018 Retinal Disease 56
109 FST001 Foster-Kennedy Syndrome 23
110 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 22
111 CMB069 Combined Hamartoma of the Retina and Retinal Pigment Epithelium 21
112 VSL005 Visual Pathway Disease 21
113 c OPT065 Optic Atrophy 9 18
114 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 17
115 BLN017 Balint Syndrome 16
116 c ACQ001 Acquired Color Blindness 14
117 SHR097 Short Tarsus with Absence of Lower Eyelashes 14
118 FLC004 Fleck Retina of Kandori 12
119 c OPT059 Optic Atrophy 4 12
120 CNG395 Congenital Retinal Arteriovenous Communication 12
121 ATS326 Autosomal Recessive Isolated Optic Atrophy 9
122 MLG010 Malignant Eyelid Melanoma 9
123 ATM073 Autoimmune-Related Retinopathy and Optic Neuropathy 8
124 ALL005 Allergic Contact Dermatitis of Eyelid 8
125 NNN006 Noninfectious Dermatoses of Eyelid 7
126 ANT020 Anterior Optic Tract Meningioma 7
127 GLC005 Glaucomatous Atrophy of Optic Disc 7
128 PRS018 Parasitic Eyelid Infestation 7
129 CRT010 Crater-Like Holes of Optic Disc 6
130 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 6
131 BLT005 Bilateral Meningioma of Optic Nerve 6
132 CLB012 Coloboma of Optic Papilla 3
133 GRW009 Growth Retardation Alopecia Pseudoanodontia Optic 2
134 P ENC018 Encephalopathy 58
135 PSD008 Pseudopapilledema 37
136 3MC001 3mc Syndrome 2 29
137 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 26
138 c OPT060 Optic Atrophy 8 21
139 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 21
140 CMB047 Combined Oxidative Phosphorylation Deficiency 18 21
141 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 18
142 P MYP006 Myopia 56
143 P PTS002 Ptosis 50
144 ECT005 Ectropion 47
145 c CNG513 Congenital Ptosis 35
146 c MYP018 Myopia 6 30
147 c PHL010 Peho-Like Syndrome 23
148 c MYP127 Myopia 2, Autosomal Dominant 20
149 c MYP138 Myopia 3, Autosomal Dominant 20
150 c MYP140 Myopia 17, Autosomal Dominant 20
151 c PTS010 Ptosis, Hereditary Congenital 2 19
152 c MYP146 Myopia 15, Autosomal Dominant 19
153 c MYP074 Myopia 23, Autosomal Recessive 18
154 c MYP141 Myopia 5, Autosomal Dominant 17
155 c MYP044 Myopia 10 17
156 GRP007 Grouped Pigmentation of the Retina 17
157 c MYP070 Myopia 21, Autosomal Dominant 16
158 c MYP133 Myopia 18, Autosomal Recessive 16
159 c MYP075 Myopia 22, Autosomal Dominant 16
160 c MYP147 Myopia 19, Autosomal Dominant 15
161 c MYP090 Myopia 24, Autosomal Dominant 15
162 c MYP144 Myopia 12, Autosomal Dominant 15
163 c MYP048 Myopia 9 15
164 c MYP041 Myopia 8 15
165 c MYP040 Myopia 7 15
166 JVN026 Jeavons Syndrome 15
167 c MYP117 Myopia 25, Autosomal Dominant 15
168 c PTS018 Ptosis, Hereditary Congenital 1 14
169 c MYP145 Myopia 16, Autosomal Dominant 14
170 c MYP143 Myopia 11, Autosomal Dominant 14
171 c MYP069 Myopia 14 13
172 c MYP084 Myopia 20, Autosomal Dominant 12
173 c FRS014 Fraser Syndrome 1 51
174 KHN001 Kuhnt-Junius Degeneration 41
175 DST033 Distichiasis 35
176 SPN033 Spontaneous Ocular Nystagmus 33
177 DGN003 Degeneration of Macula and Posterior Pole 32
178 ART110 Arteritic Anterior Ischemic Optic Neuropathy 31
179 OPT010 Optic Papillitis 30
180 PRP026 Peripheral Retinal Degeneration 29
181 TXC008 Toxic Optic Neuropathy 25
182 P PRM016 Primary Optic Atrophy 23
183 ISL119 Isolated Optic Neuritis 23
184 P TXC009 Toxic Maculopathy 20
185 CLB018 Coloboma of Eyelid 19
186 APR010 Apraxia of Eyelid Opening 17
187 c FRS015 Fraser Syndrome 3 17
188 OPT076 Optic Perineuritis 16
189 WLF014 Wolfram Syndrome, Mitochondrial Form 15
190 c FRS016 Fraser Syndrome 2 15
191 VSP001 Vasoproliferative Tumor of the Retina 14
192 PSD005 Pseudoretinitis Pigmentosa 14
193 NTR002 Nutritional Optic Neuropathy 14
194 P FRS017 Fraser-Like Syndrome 13
195 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 13
196 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 13
197 BLS004 Blessig's Cysts 12
198 CHL133 Cholestasis with Gallstone, Ataxia, and Visual Disturbance 11
199 TNT001 Tented Eyebrows 11
200 SPT020 Spatial Visualization, Aptitude for 11
201 PRT024 Partial Optic Atrophy 11
202 NRP050 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 10
203 DSC002 Discoid Lupus Erythematosus of Eyelid 10
204 OPT072 Opticocochleodentate Degeneration 10
205 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 10
206 OPT029 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 10
207 RTN005 Retinal Lattice Degeneration 10
208 VSL001 Visual Verbal Agnosia 9
209 FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 9
210 OPT067 Optic Atrophy with Demyelinating Disease of Cns 9
211 HLR003 Hole Retinal Cyst 9
212 MYL068 Myelinated Optic Nerve Fibers 9
213 OPT073 Optic Atrophy--Spastic Paraplegia Syndrome 9
214 LTT009 Lattice Degeneration of Retina Leading to Retinal Detachment 9
215 OPT069 Optic Atrophy with Negative Electroretinograms 8
216 CBB001 Cobblestone Retinal Degeneration 8
217 HYP046 Hypopigmentation of Eyelid 7
218 SNL002 Senile Reticular Retinal Degeneration 7
219 CYS012 Cystoid Macular Retinal Degeneration 7
220 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 7
221 TRS032 Tristichiasis 7
222 CNG355 Congenital Eyelid Retraction 7
223 HYP044 Hypotrichosis of Eyelid 6
224 XRD002 Xeroderma of Eyelid 6
225 EYL004 Eyelid Degenerative Disease 6
226 ECZ001 Eczematous Dermatitis of Eyelid 6
227 HYP045 Hypertrichosis of Eyelid 6
228 c TXC018 Toxic Maculopathy Due to Antimalarial Drugs 6
229 PRP004 Peripheral Scars of Retina 6
230 EYB006 Eyebrow, Whorl in 6
231 CLB023 Coloboma of Inferior Eyelid 6
232 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
233 OPT075 Optic Atrophy-Peripheral Neuropathy-Developmental Delay Syndrome 5
234 CLB024 Coloboma of Superior Eyelid 5
235 SPS224 Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal 4
236 ERL053 Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome 4
237 ECC013 Eccrine Syringofibroadenomatosis with Eyelid Abnormalities 3
238 VSL006 Visual Pathway and Hypothalamic Glioma, Childhood 2
239 c HRD010 Hereditary Spastic Paraplegia 68
240 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
241 P CNJ013 Conjunctivitis 67
242 P CTS001 Cutis Laxa 62
243 VTR013 Vitreoretinopathy, Neovascular Inflammatory 61
244 P UVT001 Uveitis 61
245 P MCP040 Mucopolysaccharidosis-Plus Syndrome 61
246 P CTR002 Cataract 60
247 c GLC092 Glaucoma, Primary Open Angle 58
248 P OCL002 Oculocutaneous Albinism 57
249 P ACH003 Achromatopsia 57
250 P CNG010 Congenital Stationary Night Blindness 56
251 KRT006 Keratoconjunctivitis 56
252 EXF001 Exfoliation Syndrome 55
253 STR020 Strabismus 55
254 c INT064 Intermediate Uveitis 54
255 FND001 Fundus Albipunctatus 54
256 c ANT034 Anterior Uveitis 53
257 P PNV001 Panuveitis 52
258 RTN023 Retinitis 52
259 OCL006 Ocular Hypertension 51
260 DRY001 Dry Eye Syndrome 51
261 MCL006 Macular Retinal Edema 51
262 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 51
263 CRN027 Corneal Neovascularization 51
264 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51
265 P OPN001 Open-Angle Glaucoma 51
266 P END047 Endophthalmitis 51
267 P NGH001 Night Blindness 51
268 c NGH026 Night Blindness, Congenital Stationary, Type 1a 51
269 STR072 Stromal Keratitis 50
270 EXP004 Exophthalmos 50
271 RTN003 Retinal Ischemia 50
272 c RTN162 Retinitis Pigmentosa 2 50
273 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 50
274 c PST005 Posterior Uveitis 50
275 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 49
276 DBT006 Diabetic Macular Edema 49
277 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 49
278 c MCR256 Microphthalmia, Syndromic 9 48
279 CNJ012 Conjunctival Disease 48
280 AST006 Astigmatism 48
281 NVS001 Neovascular Glaucoma 48
282 c LBR014 Leber Congenital Amaurosis 4 48
283 P CRN028 Corneal Ulcer 48
284 P SDR002 Siderosis 48
285 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 48
286 c LBR012 Leber Congenital Amaurosis 2 47
287 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47
288 CRN024 Corneal Disease 47
289 c OPT051 Opitz Gbbb Syndrome, Type I 47
290 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 47
291 P OCL001 Ocular Albinism 46
292 c USH021 Usher Syndrome, Type Iid 46
293 c MYS051 Myasthenic Syndrome, Congenital, 5 46
294 END072 Endotheliitis 46
295 ENH001 Enhanced S-Cone Syndrome 46
296 BLL004 Bullous Keratopathy 46
297 P RTN014 Retinal Artery Occlusion 45
298 c USH037 Usher Syndrome, Type Iia 45
299 AMB002 Amblyopia 45
300 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 45
301 c USH035 Usher Syndrome Type 2 45
302 P HRN001 Horner's Syndrome 45
303 RFR003 Refractive Error 45
304 ATP013 Atopic Keratoconjunctivitis 45
305 P GLL032 Galloway-Mowat Syndrome 45
306 c ANT077 Anterior Segment Dysgenesis 1 45
307 c MCP047 Mucopolysaccharidosis, Type Iva 44
308 c ALB024 Albinism, Ocular, Type I 44
309 c LKD015 Leukodystrophy, Hypomyelinating, 3 44
310 P DNR001 Duane Retraction Syndrome 44
311 c CHR086 Chronic Conjunctivitis 44
312 c CHR095 Chronic Progressive External Ophthalmoplegia 44
313 IRD001 Iridocyclitis 44
314 MCL003 Macular Holes 44
315 c ACH021 Achromatopsia 3 44
316 KRT008 Keratopathy 44
317 SYM002 Sympathetic Ophthalmia 43
318 VTR005 Vitreous Disease 43
319 c LKD010 Leukodystrophy, Hypomyelinating, 2 43
320 P INF016 Infantile Epileptic Encephalopathy 43
321 LCR008 Lacrimal Apparatus Disease 43
322 P CRN026 Corneal Edema 43
323 BLP005 Blepharitis 43
324 c LKD019 Leukodystrophy, Hypomyelinating, 6 42
325 PRM024 Primary Angle-Closure Glaucoma 42
326 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
327 CRN025 Corneal Dystrophy 42
328 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 42
329 c LBR019 Leber Congenital Amaurosis 9 41
330 c RTN043 Retinitis Pigmentosa 13 41
331 c CTR130 Cataract 9, Multiple Types 41
332 c LBR004 Leber Congenital Amaurosis 1 41
333 c USH039 Usher Syndrome, Type Ic 41
334 P VTL001 Vitelliform Macular Dystrophy 41
335 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
336 c MCL066 Macular Dystrophy, Vitelliform, 2 41
337 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 41
338 c USH020 Usher Syndrome, Type Iic 41
339 c USH040 Usher Syndrome, Type Id 41
340 P JVN008 Juvenile Glaucoma 41
341 CRN241 Corneal Dystrophy, Congenital Stromal 41
342 EXT022 Exotropia 41
343 SNL007 Senile Cataract 41
344 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 41
345 c RTN058 Retinitis Pigmentosa 3 40
346 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 40
347 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 40
348 c ACH020 Achromatopsia 2 40
349 c MCR261 Microphthalmia, Syndromic 2 40
350 ACT011 Acute Contagious Conjunctivitis 40
351 CHR386 Chromosome 6pter-P24 Deletion Syndrome 40
352 c MYS078 Myasthenic Syndrome, Congenital, 14 40
353 ARC023 Arcus Corneae 40
354 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40
355 CRN285 Corneal Dystrophy, Fleck 40
356 INT042 Internuclear Ophthalmoplegia 40
357 c CNT028 Central Retinal Artery Occlusion 40
358 ORB013 Orbital Disease 40
359 VTR003 Vitreous Detachment 40
360 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 40
361 c RTN160 Retinitis Pigmentosa 60 40
362 OCL010 Ocular Hypotension 39
363 c MCL060 Macular Dystrophy, Vitelliform, 3 39
364 c RTN177 Retinitis Pigmentosa 73 39
365 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 39
366 MRN002 Mooren's Ulcer 39
367 c RTN048 Retinitis Pigmentosa 19 39
368 c CTR118 Cataract 14, Multiple Types 39
369 c RTN172 Retinitis Pigmentosa 1 39
370 HYP008 Hypertensive Retinopathy 39
371 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
372 CNJ007 Conjunctivochalasis 39
373 VRN001 Vernal Conjunctivitis 38
374 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 38
375 c CTR115 Cataract 16, Multiple Types 38
376 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 38
377 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 38
378 c RTN143 Retinitis Pigmentosa 47 38
379 MYP139 Myopathy, Proximal, and Ophthalmoplegia 38
380 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
381 c RTN142 Retinitis Pigmentosa 38 38
382 EXC003 Excessive Tearing 38
383 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
384 c RTN069 Retinitis Pigmentosa 7 38
385 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
386 RCR001 Recurrent Corneal Erosion 38
387 DBT007 Diabetic Cataract 38
388 c OPT050 Opitz Gbbb Syndrome, Type Ii 38
389 c CTR122 Cataract 5, Multiple Types 38
390 PPL019 Papillary Conjunctivitis 38
391 c MYS052 Myasthenic Syndrome, Congenital, 10 38
392 BCK003 Background Diabetic Retinopathy 37
393 c MNS014 Monosomy 22 37
394 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 37
395 c BCT006 Bacterial Conjunctivitis 37
396 c ANT023 Anterior Scleritis 37
397 c ANT071 Anterior Segment Dysgenesis 4 37
398 LNS003 Lens Disease 37
399 CHR079 Choroid Disease 37
400 RBS002 Rubeosis Iridis 37
401 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 37
402 c GLL038 Galloway-Mowat Syndrome 1 37
403 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37
404 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
405 PRS025 Presbyopia 37
406 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 37
407 c LKD008 Leukodystrophy, Hypomyelinating, 4 37
408 c USH042 Usher Syndrome, Type Ig 36
409 IRT001 Iritis 36
410 BLP006 Blepharoconjunctivitis 36
411 c RTN055 Retinitis Pigmentosa 26 36
412 c CTR129 Cataract 31, Multiple Types 36
413 c ATS076 Autosomal Recessive Stickler Syndrome 36
414 c USH041 Usher Syndrome, Type if 36
415 c CTR170 Cataract 30, Multiple Types 36
416 c CTS045 Cutis Laxa, Autosomal Dominant 1 36
417 c ACT037 Acute Dacryocystitis 36
418 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
419 c PRM032 Primary Congenital Glaucoma 36
420 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
421 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 36
422 c RTN136 Retinitis Pigmentosa 44 36
423 BLP001 Blepharochalasis 36
424 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 36
425 RTN002 Retinal Perforation 36
426 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
427 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 36
428 c PST008 Posterior Scleritis 35
429 PNG001 Pinguecula 35
430 ANG004 Angioid Streaks 35
431 c RTN050 Retinitis Pigmentosa 20 35
432 HRP025 Herpes Simplex Virus Keratitis 35
433 c MCP051 Mucopolysaccharidosis, Type Ix 35
434 c CTR098 Cataract 1, Multiple Types 35
435 XRP001 Xerophthalmia 35
436 ENT005 Entropion 35
437 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 35
438 c LBR007 Leber Congenital Amaurosis 12 35
439 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
440 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 35
441 LWT001 Low Tension Glaucoma 35
442 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
443 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 35
444 CLR133 Colorblindness, Partial, Protan Series 35
445 EPT021 Epithelial Recurrent Erosion Dystrophy 35
446 CHR382 Chromosome 18q Deletion Syndrome 35
447 c RTN041 Retinitis Pigmentosa 11 35
448 c LBR011 Leber Congenital Amaurosis 16 35
449 P DCR003 Dacryoadenitis 34
450 c RTN186 Retinitis Pigmentosa 75 34
451 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 34
452 P ANT086 Anterior Segment Dysgenesis 2 34
453 SPN331 Spondyloocular Syndrome 34
454 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
455 END034 Endocrine Exophthalmos 34
456 CRT012 Cortical Blindness 34
457 c CTR141 Cataract 21, Multiple Types 34
458 c DNR003 Duane Retraction Syndrome 1 34
459 LCR001 Lacrimal Duct Obstruction 34
460 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 34
461 c RTN149 Retinitis Pigmentosa 42 34
462 PHT002 Photokeratitis 34
463 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 34
464 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 34
465 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
466 c RTN165 Retinitis Pigmentosa 68 34
467 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 34
468 FND002 Fundus Dystrophy 34
469 c RTN150 Retinitis Pigmentosa 10 34
470 FLM001 Filamentary Keratitis 33
471 c CTR125 Cataract 7 33
472 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 33
473 c CTR174 Cataract 40 33
474 c ACH023 Achromatopsia 4 33
475 OCC002 Occult Macular Dystrophy 33
476 CRN274 Corneal Dystrophy, Posterior Amorphous 33
477 c RTN090 Retinitis Pigmentosa 55 33
478 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 33
479 c GLC083 Glaucoma 3, Primary Infantile, B 33
480 c RTN131 Retinitis Pigmentosa 27 33
481 P KNB001 Knobloch Syndrome 33
482 c LBR009 Leber Congenital Amaurosis 14 33
483 HYP084 Hypopyon 33
484 c RTN042 Retinitis Pigmentosa 12 33
485 P VTR010 Vitreoretinochoroidopathy 33
486 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 33
487 c RTN051 Retinitis Pigmentosa 22 33
488 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 33
489 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33
490 c GLC041 Glaucoma 1, Open Angle, a 32
491 CRN273 Corneal Dystrophy, Subepithelial Mucinous 32
492 c RTN133 Retinitis Pigmentosa 43 32
493 ANS004 Anisometropia 32
494 c KNB006 Knobloch Syndrome 1 32
495 c RTN210 Retinitis Pigmentosa 50 32
496 HRD016 Hereditary Retinal Dystrophy 32
497 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 32
498 c CTR102 Cataract 2, Multiple Types 32
499 c RTN062 Retinitis Pigmentosa 33 32
500 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 32
501 c ACT067 Acute Conjunctivitis 32
502 ATS238 Autosomal Recessive Cutis Laxa Type 2, Classic Type 32
503 SCL013 Scleral Disease 32
504 c CTS034 Cutis Laxa, Autosomal Recessive Type 1 32
505 AST003 Asthenopia 32
506 c WLL036 Weill-Marchesani Syndrome 1 32
507 c RTN134 Retinitis Pigmentosa 40 32
508 c CTR096 Cataract 6, Multiple Types 32
509 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
510 c HRD015 Hereditary Night Blindness 32
511 c NGH029 Night Blindness, Congenital Stationary, Type 1e 32
512 DGN002 Degenerative Myopia 32
513 c MYS075 Myasthenic Syndrome, Congenital, 13 32
514 ISL062 Isolated Plagiocephaly 32
515 EXP002 Exposure Keratitis 32
516 GLC001 Glaucomatocyclitic Crisis 32
517 CHR077 Chorioretinal Scar 32
518 SCL014 Scleral Staphyloma 32
519 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 32
520 c CTR119 Cataract 32, Multiple Types 32
521 EPT025 Epithelial Basement Membrane Dystrophy 32
522 c RTN047 Retinitis Pigmentosa 18 32
523 c RTN116 Retinitis Pigmentosa 56 32
524 IRS003 Iris Disease 31
525 SVR002 Severe Nonproliferative Diabetic Retinopathy 31
526 c CTR095 Cataract 8, Multiple Types 31
527 c RTN044 Retinitis Pigmentosa 14 31
528 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 31
529 OCL004 Ocular Hyperemia 31
530 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 31
531 c CTR158 Cataract 37 31
532 c RTN068 Retinitis Pigmentosa 6 31
533 c NGH007 Night Blindness, Congenital Stationary, Type 1b 31
534 c CTR103 Cataract 4, Multiple Types 31
535 c PRP091 Porphyria Cutanea Tarda, Type I 31
536 c CTR145 Cataract 44 31
537 HYP048 Hypotropia 31
538 c NNS043 Nonsyndromic Retinitis Pigmentosa 31
539 c LBR005 Leber Congenital Amaurosis 10 31
540 c NGH025 Night Blindness, Congenital Stationary, Type 2a 31
541 P SPS012 Spastic Paraplegia 3a 31
542 RDG001 Red-Green Color Blindness 30
543 c RTN056 Retinitis Pigmentosa 28 30
544 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 30
545 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 30
546 CNG005 Congenital Aphakia 30
547 P HYP700 Hypomyelinating Leukodystrophy 30
548 c LBR016 Leber Congenital Amaurosis 6 30
549 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 30
550 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 30
551 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 30
552 c RTN171 Retinitis Pigmentosa 59 30
553 c LBR013 Leber Congenital Amaurosis 3 30
554 P VTR008 Vitreoretinal Degeneration 30
555 c USH031 Usher Syndrome, Type Ij 30
556 CNJ001 Conjugate Gaze Palsy 30
557 c RTN054 Retinitis Pigmentosa 25 30
558 BSL037 Basal Laminar Drusen 30
559 P BST001 Bestrophinopathy 30
560 STR019 Steroid-Induced Glaucoma 30
561 HYP047 Hypertropia 30
562 c WLL037 Weill-Marchesani Syndrome 2 30
563 c LBR015 Leber Congenital Amaurosis 5 30
564 c ALB019 Albinism, Oculocutaneous, Type Iv 30
565 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
566 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 30
567 CYC001 Cycloplegia 29
568 DSS006 Disuse Amblyopia 29
569 ENP001 Enophthalmos 29
570 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 29
571 c CTR132 Cataract 3, Multiple Types 29
572 INT065 Interstitial Keratitis 29
573 LNS001 Lens Subluxation 29
574 c RTN052 Retinitis Pigmentosa 23 29
575 STR086 Stromal Dystrophy 29
576 c RTN057 Retinitis Pigmentosa 29 29
577 c RTN152 Retinitis Pigmentosa 66 29
578 c ACQ027 Acquired Cutis Laxa 29
579 RTN006 Retinal Drusen 29
580 SPS002 Spastic Entropion 29
581 ORB006 Orbital Cellulitis 29
582 P DCR004 Dacryocystitis 29
583 CRN288 Corneal Dystrophy, Band-Shaped 29
584 c BST008 Bestrophinopathy, Autosomal Recessive 29
585 LRY022 Laryngoonychocutaneous Syndrome 29
586 PNC012 Punctate Epithelial Keratoconjunctivitis 29
587 P CRN249 Cornea Plana 29
588 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 29
589 LGP001 Lagophthalmos 29
590 c SPS031 Spastic Paraplegia 23 29
591 c LBR018 Leber Congenital Amaurosis 8 29
592 SVN002 Sveinsson Chorioretinal Atrophy 29
593 HYD007 Hydrophthalmos 28
594 c CHR054 Chronic Closed-Angle Glaucoma 28
595 c ACT047 Acute Endophthalmitis 28
596 c USH030 Usher Syndrome, Type Ik 28
597 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
598 c RTN066 Retinitis Pigmentosa 4 28
599 c CTR121 Cataract 25 28
600 ORB008 Orbital Plasma Cell Granuloma 28
601 c ALB015 Albinism, Oculocutaneous, Type V 28
602 c MCL070 Macular Dystrophy, Patterned, 3 28
603 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 28
604 MGL003 Megalocornea 28
605 c CTR175 Cataract 24 28
606 IMM002 Immature Cataract 28
607 c SPS036 Spastic Paraplegia 3 28
608 ISL061 Isolated Brachycephaly 28
609 c RTN070 Retinitis Pigmentosa 9 28
610 SHP001 Shipyard Eye 28
611 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28
612 MKL001 Mikulicz Disease 28
613 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
614 VTR001 Vitreoretinal Dystrophy 28
615 c RTN046 Retinitis Pigmentosa 17 28
616 c ERL012 Early-Onset Glaucoma 28
617 P SCL047 Sclerocornea 28
618 c RTN064 Retinitis Pigmentosa 35 28
619 P PRS124 Presynaptic Congenital Myasthenic Syndromes 28
620 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 28
621 IRR001 Irregular Astigmatism 28
622 c CTR124 Cataract 10, Multiple Types 28
623 VST003 Vestibular Nystagmus 28
624 ORB007 Orbital Cyst 28
625 CHR053 Chronic Follicular Conjunctivitis 28
626 c RTN114 Retinitis Pigmentosa 58 27
627 PRF002 Perforated Corneal Ulcer 27
628 CRN009 Corneal Ectasia 27
629 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 27
630 ISL011 Isolated Aniridia 27
631 OLG014 Oligocone Trichromacy 27
632 LKC002 Leukocoria 27
633 PRL014 Paralytic Squint 27
634 c HRD186 Hereditary Spastic Paraplegia 51 27
635 RTN019 Retinal Telangiectasia 27
636 ACT022 Acute Retinal Necrosis Syndrome 27
637 c CHR093 Chronic Orbital Inflammation 27
638 ORB010 Orbital Granuloma 27
639 c CTR113 Cataract 11, Multiple Types 27
640 c RTN053 Retinitis Pigmentosa 24 27
641 RGL001 Regular Astigmatism 27
642 ACC003 Accommodative Esotropia 27
643 CRN022 Corneal Degeneration 27
644 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
645 c ANT084 Anterior Segment Dysgenesis 3 27
646 P SPN202 Spinocerebellar Ataxia, X-Linked 1 27
647 c RTN146 Retinitis Pigmentosa 62 27
648 c INF122 Infantile Krabbe Disease 27
649 SNL004 Senile Ectropion 27
650 c RTN140 Retinitis Pigmentosa 67 26
651 c USH044 Usher Syndrome, Type Iiib 26
652 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
653 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 26
654 c CHR060 Chronic Dacryocystitis 26
655 c INF019 Infectious Anterior Uveitis 26
656 c ALB017 Albinism, Oculocutaneous, Type Vi 26
657 MTR001 Mature Cataract 26
658 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
659 c RTN147 Retinitis Pigmentosa 48 26
660 c MCL059 Macular Dystrophy, Patterned, 1 26
661 LGH012 Leigh Syndrome with Leukodystrophy 26
662 CNR014 Cone-Rod Dystrophy 16 26
663 TTR027 Tetrasomy 15q26 26
664 ISL089 Isolated Scaphocephaly 26
665 c RTN059 Retinitis Pigmentosa 30 26
666 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 26
667 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
668 c LKD022 Leukodystrophy, Hypomyelinating, 13 26
669 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
670 c RTN060 Retinitis Pigmentosa 31 26
671 P RTN102 Retinitis Pigmentosa, Y-Linked 26
672 c SPS092 Spastic Paraplegia 11 26
673 CCT001 Cicatricial Ectropion 26
674 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 26
675 c SPS021 Spastic Paraplegia 10 26
676 PST063 Postsynaptic Congenital Myasthenic Syndromes 26
677 CRN128 Corneal Dystrophy, Endothelial, X-Linked 26
678 PNP001 Panophthalmitis 26
679 CLS047 Classic Progressive Supranuclear Palsy Syndrome 25
680 P ACT028 Acute Closed-Angle Glaucoma 25
681 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 25
682 BTT011 Butterfly-Shaped Pigment Dystrophy 25
683 TRM002 Traumatic Glaucoma 25
684 PGM007 Pigmented Paravenous Chorioretinal Atrophy 25
685 VTR002 Vitreous Syneresis 25
686 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
687 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 25
688 c RBN008 Rubinstein-Taybi Syndrome 2 25
689 SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 25
690 c MCL078 Macular Degeneration, Age-Related, 14 25
691 c SPS039 Spastic Paraplegia 5a 25
692 BRN041 Bornholm Eye Disease 25
693 c MCR212 Microphthalmia, Syndromic 12 25
694 HRD019 Hereditary Choroidal Atrophy 25
695 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 25
696 DYS096 Dyskeratosis, Hereditary Benign Intraepithelial 25
697 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 25
698 PHK008 Phakomatosis Cesioflammea 25
699 c CTR169 Cataract 29 25
700 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
701 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 25
702 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
703 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 25
704 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
705 c MYS076 Myasthenic Syndrome, Congenital, 8 24
706 CRN004 Corneal Abscess 24
707 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 24
708 AMT001 Ametropic Amblyopia 24
709 CNJ010 Conjunctival Degeneration 24
710 c WLL011 Weill-Marchesani-Like Syndrome 24
711 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
712 WGN007 Wagner Vitreoretinopathy 24
713 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 24
714 c RTN159 Retinitis Pigmentosa 45 24
715 c RTN178 Retinitis Pigmentosa 72 24
716 PSD004 Pseudomembranous Conjunctivitis 24
717 c ANT083 Anterior Segment Dysgenesis 7 24
718 c MYS056 Myasthenic Syndrome, Congenital, 17 24
719 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 24
720 c RTN169 Retinitis Pigmentosa 70 24
721 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 24
722 c ANT085 Anterior Segment Dysgenesis 5 24
723 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
724 c MCR228 Microphthalmia, Syndromic 13 24
725 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 24
726 PRT101 Poretti-Boltshauser Syndrome 24
727 c RTN106 Retinitis Pigmentosa 51 24
728 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
729 c RTN176 Retinitis Pigmentosa 71 24
730 c RTN067 Retinitis Pigmentosa 41 24
731 c RTN129 Retinitis Pigmentosa 49 24
732 TTR019 Tetrasomy 5p 24
733 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 24
734 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 24
735 c MYS067 Myasthenic Syndrome, Congenital, 22 23
736 PRT032 Partial Central Choroid Dystrophy 23
737 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 23
738 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 23
739 c SPS025 Spastic Paraplegia 15 23
740 c MYS074 Myasthenic Syndrome, Congenital, 12 23
741 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 23
742 ISL087 Isolated Oxycephaly 23
743 c NGH027 Night Blindness, Congenital Stationary, Type 1c 23
744 c LKD020 Leukodystrophy, Hypomyelinating, 10 23
745 SPP007 Suppression Amblyopia 23
746 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 23
747 c STC012 Stickler Syndrome, Type Iv 23
748 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
749 STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 23
750 P PST016 Posterior Polar Cataract 23
751 c OGC001 Oguchi Disease 1 23
752 c MNS008 Monosomy 21 23
753 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
754 c CTR166 Cataract 33, Multiple Types 23
755 c CTR131 Cataract 17, Multiple Types 23
756 DRM043 Dermochondrocorneal Dystrophy 23
757 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 23
758 c ALB016 Albinism, Oculocutaneous, Type Vii 23
759 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 22
760 DCR002 Dacryocystocele 22
761 INT323 Intraocular Pressure Quantitative Trait Locus 22
762 c MCL030 Macular Degeneration, Age-Related, 10 22
763 c RTN065 Retinitis Pigmentosa 36 22
764 c MCL073 Macular Dystrophy, Vitelliform, 1 22
765 c CTR181 Cataract 18 22
766 ANS002 Aniseikonia 22
767 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 22
768 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 22
769 c LBR010 Leber Congenital Amaurosis 15 22
770 BTH002 Bothnia Retinal Dystrophy 22
771 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
772 c RTN166 Retinitis Pigmentosa 69 22
773 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 22
774 c WLL038 Weill-Marchesani Syndrome 3 22
775 c FML324 Familial Porphyria Cutanea Tarda 22
776 c CTR180 Cataract 22, Multiple Types 22
777 c LKD023 Leukodystrophy, Hypomyelinating, 12 22
778 c LKD021 Leukodystrophy, Hypomyelinating, 11 22
779 c CTR162 Cataract 47 22
780 c STC011 Stickler Syndrome, Type V 22
781 c MCR217 Microphthalmia, Syndromic 11 22
782 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 22
783 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
784 c RTN195 Retinitis Pigmentosa 79 22
785 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 22
786 c NGH030 Night Blindness, Congenital Stationary, Type 1f 22
787 c LKD016 Leukodystrophy, Hypomyelinating, 9 22
788 CRN010 Corneal Granular Dystrophy 22
789 c MYS064 Myasthenic Syndrome, Congenital, 16 22
790 SNL001 Senile Entropion 22
791 c RTN117 Retinitis Pigmentosa 57 22
792 c NGH028 Night Blindness, Congenital Stationary, Type 1d 22
793 MSC089 Mosaic Monosomy X 22
794 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 21
795 P MNS011 Monosomy 9q22.3 21
796 c SPS091 Spastic Paraplegia 4 21
797 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 21
798 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
799 PHC001 Phacolytic Glaucoma 21
800 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 21
801 MRG001 Morgagni Cataract 21
802 c RTN157 Retinitis Pigmentosa 37 21
803 PRL018 Purulent Endophthalmitis 21
804 c HRN024 Horner Syndrome, Congenital 21
805 SPS087 Spasmus Nutans 21
806 c DNR004 Duane Retraction Syndrome 2 21
807 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
808 c MYS070 Myasthenic Syndrome, Congenital, 19 21
809 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
810 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 21
811 P ERL043 Early-Onset Nuclear Cataract 21
812 c RTN148 Retinitis Pigmentosa 63 21
813 c SPS041 Spastic Paraplegia 6 21
814 P IDP049 Idiopathic Anterior Uveitis 21
815 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 21
816 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 21
817 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
818 c MYS065 Myasthenic Syndrome, Congenital, 18 21
819 c RTN141 Retinitis Pigmentosa 39 21
820 c CTR184 Cataract 39, Multiple Types 21
821 c CTR165 Cataract 19, Multiple Types 21
822 MCH006 Mechanical Strabismus 21
823 c RTN190 Retinitis Pigmentosa 76 21
824 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21
825 MCR220 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 21
826 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 21
827 c CTR159 Cataract 35 21
828 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 21
829 PHC002 Phacogenic Glaucoma 21
830 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
831 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21
832 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
833 INT012 Interval Angle-Closure Glaucoma 21
834 ERY043 Euryblepharon 21
835 DST044 Distal Trisomy 14q 21
836 NTH002 Nathalie Syndrome 21
837 RTN185 Retinal Dysplasia, Primary 21
838 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 21
839 c MCL071 Macular Dystrophy, Patterned, 2 21
840 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 20
841 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
842 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 20
843 c MCL043 Macular Degeneration, Age-Related, 2 20
844 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 20
845 c CTR182 Cataract 23, Multiple Types 20
846 SLR002 Solar Retinopathy 20
847 PRL006 Paralytic Lagophthalmos 20
848 c LBR029 Leber Congenital Amaurosis 17 20
849 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 20
850 P MCL058 Macular Degeneration, Early-Onset 20
851 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
852 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 20
853 c SPS020 Spastic Paraplegia 1 20
854 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
855 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
856 c CTR116 Cataract 15, Multiple Types 20
857 CRN023 Corneal Deposit 20
858 c RTN130 Retinitis Pigmentosa 46 20
859 P PTT054 Patterned Macular Dystrophy 20
860 c CTR183 Cataract 38 20
861 c LBR008 Leber Congenital Amaurosis 13 20
862 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
863 ISL084 Isolated Trigonocephaly 20
864 c RTN085 Retinitis Pigmentosa 54 20
865 SPR019 Superficial Keratitis 20
866 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
867 c CTR025 Cataract, Total Congenital 20
868 DST036 Distal Trisomy 15q 20
869 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 20
870 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
871 c CTR105 Cataract 12, Multiple Types 20
872 c CTR136 Cataract 41 20
873 RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 20
874 c CTR163 Cataract 46, Juvenile-Onset 20
875 c CTR185 Cataract 30 20
876 CNR016 Cone-Rod Dystrophy 7 20
877 c CTR111 Cataract 36 20
878 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 20
879 CRN007 Corneal Staphyloma 20
880 c RTN144 Retinitis Pigmentosa 61 20
881 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
882 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 20
883 c MCL052 Macular Degeneration, Age-Related, 13 20
884 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 20
885 PHL001 Phlyctenulosis 19
886 c NGH024 Night Blindness, Congenital Stationary, Type 1h 19
887 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 19
888 FCL013 Focal Chorioretinitis 19
889 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 19
890 c SPS013 Spastic Paraplegia 8 19
891 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 19
892 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 19
893 CMB076 Combined Oxidative Phosphorylation Deficiency 31 19
894 OCL057 Oculotrichodysplasia 19
895 c USH043 Usher Syndrome, Type Ih 19
896 c RTN192 Retinitis Pigmentosa 77 19
897 c RTN180 Retinitis Pigmentosa 74 19
898 BLN008 Blind Hypotensive Eye 19
899 c ACH038 Achromatopsia 7 19
900 MNT308 Mental Retardation with Optic Atrophy, Deafness, and Seizures 19
901 c CTS031 Cutis Laxa, Autosomal Dominant 2 19
902 NCL001 Nuclear Senile Cataract 19
903 EPB002 Epiblepharon 19
904 CRN126 Corneal Dystrophy, Lisch Epithelial 19
905 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 19
906 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 19
907 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
908 MCR307 Microspherophakia-Metaphyseal Dysplasia 19
909 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 19
910 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 19
911 c MTC074 Metachromatic Leukodystrophy, Adult Form 19
912 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 19
913 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 19
914 c SPS042 Spastic Paraplegia 9 19
915 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
916 CNR012 Cone-Rod Dystrophy 11 19
917 CNR025 Cone-Rod Dystrophy 15 19
918 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 19
919 OPH014 Ophthalmomandibulomelic Dysplasia 19
920 NWF001 Newfoundland Rod-Cone Dystrophy 19
921 DPK001 Deep Keratitis 19
922 c MYS077 Myasthenic Syndrome, Congenital, 15 19
923 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 19
924 ACC002 Accommodative Spasm 19
925 EYD001 Eye Degenerative Disease 19
926 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
927 c GLL040 Galloway-Mowat Syndrome 3 18
928 IDP006 Idiopathic Corneal Edema 18
929 c CTR178 Cataract 27 18
930 SCL011 Sclerosing Keratitis 18
931 c ANT087 Anterior Segment Dysgenesis 6 18
932 c SPS037 Spastic Paraplegia 31 18
933 c SPS034 Spastic Paraplegia 26 18
934 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 18
935 c ANT067 Anterior Segment Dysgenesis 8 18
936 SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 18
937 CNR030 Cone-Rod Dystrophy 20 18
938 c RTN063 Retinitis Pigmentosa 34 18
939 c LBR017 Leber Congenital Amaurosis 7 18
940 c RTN206 Retinitis Pigmentosa, Late-Adult Onset 18
941 c RTN196 Retinitis Pigmentosa 78 18
942 CCT003 Cicatricial Entropion 18
943 c CTR097 Cataract 34, Multiple Types 18
944 c CTR157 Cataract 28 18
945 c CTR139 Cataract 42 18
946 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 18
947 c MCL061 Macular Dystrophy, Vitelliform, 4 18
948 RTN158 Retinitis Pigmentosa with or Without Situs Inversus 18
949 c LBR006 Leber Congenital Amaurosis 11 18
950 ARG003 Argyll Robertson Pupil 18
951 c CTR110 Cataract 26, Multiple Types 18
952 c CTR106 Cataract 20, Multiple Types 18
953 c SPS023 Spastic Paraplegia 13 18
954 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 18
955 c GLL041 Galloway-Mowat Syndrome 4 18
956 CNR021 Cone-Rod Dystrophy 10 18
957 c RTN061 Retinitis Pigmentosa 32 18
958 c SPN363 Spinocerebellar Ataxia, X-Linked 4 18
959 c CHR059 Chronic Endophthalmitis 18
960 CNJ004 Conjunctival Pigmentation 18
961 c GLC054 Glaucoma 3, Primary Congenital, D 18
962 c CTR160 Cataract 45 18
963 SCL008 Scleromalacia Perforans 18
964 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 18
965 PLS001 Pulsating Exophthalmos 18
966 c CRN280 Cornea Plana 2, Autosomal Recessive 18
967 c SPS028 Spastic Paraplegia 18 18
968 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
969 ORB019 Orbital Margin, Hypoplasia of 17
970 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 17
971 RTN170 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 17
972 c GLL042 Galloway-Mowat Syndrome 5 17
973 c MCL056 Macular Dystrophy, Vitelliform, 5 17
974 CNR023 Cone-Rod Dystrophy 8 17
975 c RTN213 Retinitis Pigmentosa 80 17
976 RTN004 Retinal Microaneurysm 17
977 MNF001 Monofixation Syndrome 17
978 P MCL035 Macular Dystrophy, Retinal, 2 17
979 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 17
980 c GLC079 Glaucoma 1, Open Angle, P 17
981 CNR017 Cone-Rod Dystrophy 9 17
982 c SPN203 Spinocerebellar Ataxia, X-Linked 5 17
983 ORB003 Orbital Tenonitis 17
984 c NGH022 Night Blindness, Congenital Stationary, Type 1g 17
985 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 17
986 CTR107 Cataract 13 with Adult I Phenotype 17
987 c CTR144 Cataract 43 17
988 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 17
989 MNS013 Monosomy 13q34 17
990 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 17
991 c SPS027 Spastic Paraplegia 17 17
992 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 17
993 c VTR009 Vitreoretinochoroidopathy Dominant 17
994 c CHR088 Chronic Inflammation of Lacrimal Passage 17
995 AQS001 Aqueous Misdirection 16
996 c SPS080 Spastic Paraplegia 51 16
997 ESS005 Essential Iris Atrophy 16
998 EXP003 Exophthalmic Ophthalmoplegia 16
999 c MCL039 Macular Degeneration, Age-Related, 8 16
1000 CNR024 Cone-Rod Dystrophy 13 16
1001 c GLC089 Glaucoma 3, Primary Congenital, E 16
1002 c MCL026 Macular Dystrophy, Retinal, 3 16
1003 PRS110 Persistent Placoid Maculopathy 16
1004 CHN047 Chondroectodermal Dysplasia with Night Blindness 16
1005 CNR027 Cone-Rod Dystrophy 17 16
1006 NND003 Non-Distal Trisomy 10q 16
1007 c SPS022 Spastic Paraplegia 12 16
1008 P OGC002 Oguchi Disease 2 16
1009 c MCL041 Macular Degeneration, Age-Related, 7 16
1010 c MCL077 Macular Degeneration, Age-Related, 5 16
1011 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 16
1012 MTR058 Maternally-Inherited Progressive External Ophthalmoplegia 16
1013 DST082 Distal Trisomy 10q 16
1014 CNR026 Cone-Rod Dystrophy 18 16
1015 ABN001 Abnormal Retinal Correspondence 16
1016 NSL017 Nasolacrimal Duct Cyst 15
1017 CNR013 Cone-Rod Dystrophy 12 15
1018 ULC003 Ulcerative Blepharitis 15
1019 c SPS161 Spastic Paraplegia 32 15
1020 c SPS035 Spastic Paraplegia 29 15
1021 c SPS033 Spastic Paraplegia 25 15
1022 c SPS032 Spastic Paraplegia 24 15
1023 c MCL032 Macular Degeneration, Age-Related, 11 15
1024 c RTN208 Retinopathy, Pericentral Pigmentary, Autosomal Recessive 15
1025 c HRD188 Hereditary Spastic Paraplegia 72 15
1026 RTC011 Reticular Dystrophy of Retinal Pigment Epithelium 15
1027 EYC003 Eye Accommodation Disease 15
1028 c PSD047 Pseudo-Turner Syndrome 15
1029 MCR317 Macrophthalmia, Colobomatous, with Microcornea 15
1030 c MCL038 Macular Degeneration, Age-Related, 4 15
1031 c MCL036 Macular Degeneration, Age-Related, 6 15
1032 ALT004 Alternating Esotropia 15
1033 c SPS029 Spastic Paraplegia 19 15
1034 c MCL051 Macular Degeneration, Age-Related, 12 15
1035 VCL007 Vocal Cord Paralysis and Ptosis 15
1036 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 15
1037 HRD017 Hordeolum Externum 15
1038 ORB018 Orbital Leiomyoma 15
1039 P ACT077 Acute Orbital Inflammation 15
1040 c SPN403 Spinocerebellar Ataxia, X-Linked 2 15
1041 ACT038 Acute Retrobulbar Neuritis 15
1042 CNR029 Cone-Rod Dystrophy 19 15
1043 c SPS026 Spastic Paraplegia 16 15
1044 CYC003 Cyclotropia 14
1045 IGG009 Igg4-Related Ophthalmic Disease 14
1046 NNH011 Non-Hereditary Retinoblastoma 14
1047 MYC004 Mycotic Corneal Ulcer 14
1048 c GLC052 Glaucoma 3, Primary Congenital, C 14
1049 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 14
1050 ALT003 Alternating Exotropia 14
1051 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
1052 c MCL065 Macular Degeneration, Age-Related, 15 14
1053 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 14
1054 c CTR128 Cataract 33 14
1055 c SPS038 Spastic Paraplegia 39 14
1056 c CRN279 Cornea Plana 1, Autosomal Dominant 14
1057 GNR029 Generalized Galactose Epimerase Deficiency 14
1058 P RTN200 Retinopathy, Pericentral Pigmentary, Dominant 14
1059 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1060 c MCL044 Macular Degeneration, Age-Related, 9 14
1061 PHC015 Phacoanaphylactic Uveitis 14
1062 c STC007 Stickler Syndrome, Type 3 14
1063 CLF040 Cleft Lip-Retinopathy Syndrome 14
1064 EPT023 Epithelial and Subepithelial Dystrophy 14
1065 CNJ002 Conjunctival Folliculosis 13
1066 ANG003 Angelucci's Syndrome 13
1067 c SPS024 Spastic Paraplegia 14 13
1068 CNG400 Congenital Hereditary Endothelial Dystrophy Type I 13
1069 c INF152 Infectious Posterior Uveitis 13
1070 c CTR176 Cataract, Age-Related Nuclear 13
1071 c ACT030 Acute Dacryoadenitis 13
1072 INT176 Intraocular Medulloepithelioma 13
1073 PPL023 Pupil Disease 13
1074 ERL036 Early-Onset Posterior Subcapsular Cataract 13
1075 MYP060 Myopic Macular Degeneration 13
1076 EPT024 Epithelial-Stromal Tgfbi Dystrophy 13
1077 CNG335 Congenital Ectropion Uveae 13
1078 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 13
1079 BLT023 Bilateral Acute Depigmentation of the Iris 12
1080 MNC001 Monocular Esotropia 12
1081 c MLT069 Multiple Mitochondrial Dysfunctions Syndrome 2 12
1082 c SCL053 Sclerocornea, Autosomal Dominant 12
1083 LTN024 Late-Onset Retinal Degenration 12
1084 CNT088 Central Cloudy Dystrophy of Francois 12
1085 P ACT070 Acute Inflammation of Lacrimal Passage 12
1086 P IDP065 Idiopathic Macular Telangiectasia Type 1 12
1087 PRD026 Pre-Descemet Corneal Dystrophy 12
1088 NDL008 Nodular Episcleritis 12
1089 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 12
1090 PRG116 Progressive Supranuclear Palsy-Corticobasal Syndrome 12
1091 9Q3002 9q33.3q34.11 Microdeletion Syndrome 12
1092 c USH011 Usher Syndrome, Type 2b 12
1093 c SPS040 Spastic Paraplegia 5b 11
1094 c ACQ002 Acquired Night Blindness 11
1095 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 11
1096 c CNT026 Central Corneal Ulcer 11
1097 CRN002 Corneal Argyrosis 11
1098 HYP062 Hypopyon Ulcer 11
1099 CNJ011 Conjunctival Deposit 11
1100 PSD006 Pseudopterygium 11
1101 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 11
1102 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 11
1103 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 11
1104 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 11
1105 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 11
1106 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 11
1107 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 11
1108 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
1109 MCH001 Mechanical Ectropion 11
1110 c RTN214 Retinitis Pigmentosa 81 11
1111 CNG357 Congenital Symblepharon 11
1112 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 11
1113 INT026 Intermittent Proptosis 11
1114 ERY041 Erythrocyte Galactose Epimerase Deficiency 11
1115 THY013 Thyrotoxic Exophthalmos 10
1116 OPH003 Ophthalmia Nodosa 10
1117 CNT011 Contact Blepharoconjunctivitis 10
1118 c GLC048 Glaucoma 1, Open Angle, I 10
1119 SPS001 Spastic Ectropion 10
1120 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1121 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1122 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 10
1123 STP001 Staphyloma Posticum 10
1124 HST002 Histoplasmosis Retinitis 9
1125 c CNG433 Congenital Cornea Plana 9
1126 EQT001 Equatorial Staphyloma 9
1127 INT008 Intermittent Squint 9
1128 c LTN017 Late-Infantile/juvenile Krabbe Disease 9
1129 c ADL071 Adult Krabbe Disease 9
1130 CHR035 Chronic Dacryoadenitis 9
1131 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1132 IDP047 Idiopathic Panuveitis 9
1133 CCT004 Cicatricial Lagophthalmos 9
1134 DFF011 Diffuse Interstitial Keratitis 9
1135 ACT168 Acute Annular Outer Retinopathy 9
1136 MRG002 Marginal Corneal Ulcer 9
1137 MCH004 Mechanical Entropion 9
1138 STR016 Steroid-Induced Glaucoma - Borderline 9
1139 c CHR061 Chronic Canaliculitis 9
1140 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 9
1141 TRN011 Transient Refractive Change 9
1142 BLL005 Bullous Retinoschisis 9
1143 c SDR001 Siderosis of Eye 8
1144 c IDP048 Idiopathic Posterior Uveitis 8
1145 c IDP066 Idiopathic Macular Telangiectasia Type 3 8
1146 BRD008 Borderline Glaucoma 8
1147 INV017 Inverse Marcus-Gunn Phenomenon 8
1148 P TTL001 Total Internal Ophthalmoplegia 8
1149 BRW005 Brawny Scleritis 8
1150 ABN004 Abnormal Pupillary Function 8
1151 PLZ007 Pelizaeus-Merzbacher Disease, Classic Form 8
1152 PRG115 Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome 8
1153 PHK009 Phakomatosis Cesiomarmorata 8
1154 OKH001 Okihiro Syndrome Due to a Point Mutation 8
1155 ETH013 Euthyroid Graves Orbitopathy 8
1156 ACQ003 Acquired Tear Duct Stenosis 8
1157 LNS002 Lens-Induced Iridocyclitis 8
1158 c ERL039 Early-Onset Anterior Polar Cataract 8
1159 c GLC032 Glaucoma, Hereditary 8
1160 MRN008 Marin-Amat Syndrome 8
1161 P JVN036 Juvenile Sialidosis Type 2 8
1162 c CNG348 Congenital Sialidosis Type 2 8
1163 IDP043 Idiopathic Uveal Effusion Syndrome 8
1164 c PST012 Posterior Corneal Pigmentation 8
1165 PRG117 Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome 7
1166 c SCN003 Secondary Corneal Edema 7
1167 TTN002 Tetanic Cataract 7
1168 PST025 Posterior Dislocation of Lens 7
1169 ANG010 Angular Blepharoconjunctivitis 7
1170 ORB005 Orbital Periostitis 7
1171 STR006 Stromal Corneal Pigmentation 7
1172 NDL004 Nodular Degeneration of Cornea 7
1173 DST090 Distal Trisomy 2p 7
1174 3Q2004 3q26 Microduplication Syndrome 7
1175 PLZ008 Pelizaeus-Merzbacher Disease, Transitional Form 7
1176 c CTR008 Cataract Congenital Autosomal Dominant 7
1177 TRS020 Tarsal Kink Syndrome 7
1178 PHK010 Phakomatosis Spilorosea 7
1179 P ANT008 Anterior Corneal Pigmentation 7
1180 RNG002 Ring Corneal Ulcer 7
1181 RSD002 Residual Stage of Open Angle Glaucoma 7
1182 MCL004 Macular Keratitis 7
1183 PHL004 Phlegmonous Dacryocystitis 7
1184 GNC007 Gonococcal Keratitis 7
1185 DBL001 Double Pterygium 6
1186 HYP023 Hypersecretion Glaucoma 6
1187 CNJ008 Conjunctival Concretion 6
1188 CRT003 Cortical Senile Cataract 6
1189 SQM003 Squamous Blepharitis 6
1190 SCL005 Scleroperikeratitis 6
1191 P ACT026 Acute Canaliculitis 6
1192 c SCN004 Secondary Vitreoretinal Degeneration 6
1193 DSS001 Disseminated Chorioretinitis 6
1194 MLT117 Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 6
1195 FND005 Fundus Pulverulentus 6
1196 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
1197 INF115 Infectious Epithelial Keratitis 6
1198 RTN189 Retinal Capillary Malformation 6
1199 c MCR284 Microcephaly and Chorioretinopathy 3 6
1200 c MCR283 Microcephaly and Chorioretinopathy 2 6
1201 c MCR282 Microcephaly and Chorioretinopathy 1 6
1202 LCR003 Lacrimal Passage Granuloma 6
1203 MNC005 Monocular Exotropia 6
1204 STN003 Stenosis of Lacrimal Passage 6
1205 PTR027 Peters Anomaly-Cataract Syndrome 6
1206 PLZ009 Pelizaeus-Merzbacher Disease in Female Carriers 6
1207 STB001 Stable Condition Keratoconus 6
1208 BWM001 Bowman's Membrane Folds or Rupture 6
1209 ABN003 Abnormal Threshold of Rods 6
1210 EPS002 Episcleritis Periodica Fugax 6
1211 CNT022 Central Gyrate Choroidal Dystrophy 6
1212 P RBN007 Rubinstein Taybi Like Syndrome 6
1213 c INF151 Infectious Panuveitis 5
1214 CNT008 Contact Lens Corneal Edema 5
1215 PRM009 Primary Eye Hypotony 5
1216 LTR005 Lateral Displacement of Eye 5
1217 LXT001 Luxation of Globe 5
1218 PRG012 Progressive Peripheral Pterygium 5
1219 STN002 Stenosis of Lacrimal Punctum 5
1220 LCL001 Localized Anterior Staphyloma 5
1221 P PRM007 Primary Lacrimal Atrophy 5
1222 RSD001 Residual Stage Angle-Closure Glaucoma 5
1223 PRP014 Peripheral Degeneration of Cornea 5
1224 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 5
1225 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 5
1226 GRY003 Grayson-Wilbrandt Corneal Dystrophy 5
1227 ACT005 Acute Hydrops Keratoconus 5
1228 PRP012 Peripheral Focal Chorioretinitis 5
1229 VTR004 Vitreous Abscess 5
1230 TTL003 Total Circumpapillary Dystrophy of Choroid 5
1231 CMP057 Complete Cryptophthalmia 5
1232 PRT091 Partial Cryptophthalmia 5
1233 ISL065 Isolated Congenital Alacrima 5
1234 ERL027 Early-Onset Non-Syndromic Cataract 5
1235 ERL042 Early-Onset Partial Cataract 5
1236 MCH005 Mechanical Lagophthalmos 5
1237 SPP006 Suppurative Uveitis 5
1238 RTN009 Retinal Dystrophies Primarily Involving Bruch's Membrane 5
1239 ANT015 Anatomical Narrow Angle Borderline Glaucoma 5
1240 P EPP002 Epiphora Due to Excess Lacrimation 5
1241 c SCN002 Secondary Lacrimal Atrophy 5
1242 ANT012 Anterior Dislocation of Lens 5
1243 STN001 Stenosis of Lacrimal Sac 5
1244 GNC004 Gonococcal Iridocyclitis 5
1245 SMP002 Simple Chronic Conjunctivitis 5
1246 GNC008 Gonococcal Endophthalmia 5
1247 DFF008 Diffuse Secondary Choroid Atrophy 5
1248 CNS003 Constant Exophthalmos 5
1249 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 5
1250 RNG001 Ring Staphyloma 5
1251 BLN007 Blind Hypertensive Eye 5
1252 PHT005 Phthisical Cornea 5
1253 CNT006 Central Pterygium 5
1254 EVR001 Eversion of Lacrimal Punctum 5
1255 c EPP001 Epiphora Due to Insufficient Drainage 5
1256 MYT001 Myotonic Cataract 5
1257 FLT003 Flat Retinoschisis 5
1258 PRT016 Partial Circumpapillary Choroid Dystrophy 5
1259 RSD003 Residual Stage Corticosteroid-Induced Glaucoma 5
1260 c GLC035 Glaucoma, Primary Infantile Type 3a 4
1261 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 4
1262 c GLC033 Glaucoma, Hereditary Adult Type 1a 4
1263 c GLC029 Glaucoma Type 1c 4
1264 ISL071 Isolated Congenital Ectropion 4
1265 HNY001 Honey-Droplet Corneal Dystrophy 4
1266 IDP050 Idiopathic Linear Interstitial Keratitis 4
1267 PRS026 Parasitic Conjunctivitis 4
1268 DYS010 Dystrophies Primarily Involving the Retinal Pigment Epithelium 4
1269 RSC002 Rosacea Conjunctivitis 4
1270 SNL006 Senile Atrophy of Choroid 4
1271 ANG008 Angioid Streaks of Choroid 4
1272 c FML317 Familial Monosomy 7 Syndrome 4
1273 INT284 Intellectual Disability-Cataracts-Kyphosis Syndrome 4
1274 ATS361 Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome 4
1275 RTN007 Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses 4
1276 P CHR168 Chorioretinopathy Dominant Form Microcephaly 4
1277 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
1278 c MCR048 Microcephaly Chorioretinopathy Recessive Form 4
1279 c RTN181 Retinitis Pigmentosa 2, X-Linked 3
1280 PRN060 Paraneoplastic Uveitis 3
1281 PPL048 Papillorenal Syndrome 53
1282 P LBR001 Leber Congenital Amaurosis 65
1283 c MCL042 Macular Degeneration, Age-Related, 1 79
1284 OPT008 Optic Nerve Neoplasm 38
1285 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 40
1286 c NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 32
1287 P HRD138 Hereditary Motor and Sensory Neuropathy V 27
1288 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 24
1289 OCL031 Oculo-Cerebral Dysplasia 13
1290 KRN002 Kearns-Sayre Syndrome 59
1291 RTN015 Retinal Cancer 53
1292 ECZ002 Eczema Herpeticum 49
1293 BRK005 Berk-Tabatznik Syndrome 7
1294 BRD025 Birdshot Chorioretinopathy 53
1295 DYN002 Doyne Honeycomb Retinal Dystrophy 35
1296 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 50
1297 OPT007 Optic Nerve Glioma 45
1298 c WRB002 Warburg Micro Syndrome 1 42
1299 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 39
1300 c WRB005 Warburg Micro Syndrome 4 37
1301 c WRB003 Warburg Micro Syndrome 2 33
1302 P SPS008 Spastic Ataxia 32
1303 P WRB001 Warburg Micro Syndrome 32
1304 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31
1305 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 26
1306 c SPS072 Spastic Ataxia 1, Autosomal Dominant 25
1307 c SPS136 Spastic Ataxia 3, Autosomal Recessive 24
1308 CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 24
1309 c WRB004 Warburg Micro Syndrome 3 23
1310 c SPS212 Spastic Ataxia 5, Autosomal Recessive 23
1311 c SPS208 Spastic Ataxia 4, Autosomal Recessive 22
1312 c SPS142 Spastic Ataxia 2, Autosomal Recessive 21
1313 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
1314 c SPS214 Spastic Ataxia 4 9
1315 c SPS163 Spastic Ataxia 3 8
1316 c SPS162 Spastic Ataxia 1 8
1317 c SPS171 Spastic Ataxia 5 8
1318 c SPS170 Spastic Ataxia 2 8
1319 c SPS172 Spastic Ataxia 7 7
1320 PPL021 Papilledema 50
1321 RTN011 Retina Lymphoma 22
1322 RTN123 Retinochoroidal Coloboma 18
1323 c OPT025 Optic Atrophy 6 18
1324 MLN018 Moloney Syndrome 15
1325 OCL009 Ocular Cancer 61
1326 KLV001 Kluver-Bucy Syndrome 41
1327 P PNT019 Pontocerebellar Hypoplasia 41
1328 c PNT034 Pontocerebellar Hypoplasia, Type 2e 41
1329 c PNT036 Pontocerebellar Hypoplasia, Type 6 40
1330 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
1331 c PNT049 Pontocerebellar Hypoplasia, Type 2d 35
1332 c PNT010 Pontocerebellar Hypoplasia Type 1 35
1333 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
1334 c PNT045 Pontocerebellar Hypoplasia, Type 1a 31
1335 c PNT033 Pontocerebellar Hypoplasia, Type 10 31
1336 c PNT043 Pontocerebellar Hypoplasia, Type 4 29
1337 c PNT044 Pontocerebellar Hypoplasia, Type 2a 28
1338 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
1339 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
1340 MNT006 Manitoba Oculotrichoanal Syndrome 27
1341 c PNT032 Pontocerebellar Hypoplasia, Type 9 27
1342 c PNT039 Pontocerebellar Hypoplasia, Type 7 25
1343 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
1344 c PNT047 Pontocerebellar Hypoplasia, Type 2b 24
1345 c PNT050 Pontocerebellar Hypoplasia, Type 11 22
1346 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1347 c PNT048 Pontocerebellar Hypoplasia, Type 2c 21
1348 3MC003 3mc Syndrome 42
1349 IRD003 Iridocorneal Endothelial Syndrome 26
1350 WBB001 Webb-Dattani Syndrome 22
1351 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 16
1352 LPS006 Lopes Gorlin Syndrome 6
1353 STH001 Saethre-Chotzen Syndrome 64
1354 P FCS002 Fucosidosis 59
1355 RTN020 Retinal Vascular Disease 46
1356 OCL011 Ocular Motility Disease 31
1357 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 24
1358 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 16
1359 ULR001 Ulerythema Ophryogenesis 15
1360 RTN010 Retinal Melanoma 8
1361 c FCS008 Fucosidosis Type 1 8
1362 PGN001 Pagon Stephan Syndrome 7
1363 ALG004 Al Gazali Khidr Prem Chandran Syndrome 6
1364 SLN003 Silengo Lerone Pelizza Syndrome 4
1365 RTN076 Retinopathy, Arteriosclerotic 4
1366 OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 3
1367 OPT022 Optic Atrophy 1 and Deafness 3
1368 P RTN008 Retinitis Pigmentosa 81
1369 MRF001 Marfan Syndrome 75
1370 P MTC003 Metachromatic Leukodystrophy 72
1371 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
1372 FBR012 Fabry Disease 72
1373 P TYS001 Tay-Sachs Disease 71
1374 CRZ001 Crouzon Syndrome 71
1375 WRN001 Werner Syndrome 70
1376 P KRB001 Krabbe Disease 70
1377 P OST001 Osteopetrosis 70
1378 APR006 Apert Syndrome 69
1379 P NRF023 Neurofibromatosis, Type Ii 69
1380 P TRN020 Turner Syndrome 69
1381 P CHR012 Chronic Granulomatous Disease 69
1382 P TBR001 Tuberous Sclerosis 69
1383 CNR004 Cone-Rod Dystrophy 2 69
1384 c MYT021 Myotonic Dystrophy 1 68
1385 SCH036 Scheie Syndrome 68
1386 P ANR048 Aniridia 1 68
1387 BHC003 Behcet Syndrome 68
1388 P NMN002 Niemann-Pick Disease 68
1389 P PSD087 Pseudoxanthoma Elasticum 67
1390 P MCL013 Mucolipidosis Iv 67
1391 CHD001 Chediak-Higashi Syndrome 67
1392 P MCR115 Microvascular Complications of Diabetes 5 66
1393 P CRN015 Cornelia De Lange Syndrome 65
1394 SND001 Sandhoff Disease 65
1395 c TBR026 Tuberous Sclerosis 2 65
1396 c MCP050 Mucopolysaccharidosis, Type Ii 64
1397 GLC006 Galactosemia 64
1398 c MCP049 Mucopolysaccharidosis, Type Vii 64
1399 CRB011 Cerebrotendinous Xanthomatosis 64
1400 WLL001 Williams-Beuren Syndrome 63
1401 P MLN069 Melanoma, Uveal 63
1402 c NRF024 Neurofibromatosis, Type I 63
1403 KRT001 Keratoconjunctivitis Sicca 63
1404 c TBR025 Tuberous Sclerosis 1 63
1405 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
1406 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 62
1407 KRT019 Keratitis, Hereditary 62
1408 P GCH001 Gaucher's Disease 62
1409 P KBK002 Kabuki Syndrome 1 62
1410 c MCR129 Microvascular Complications of Diabetes 1 62
1411 MCR013 Microphthalmia 61
1412 c MCP024 Mucopolysaccharidosis Type Vi 61
1413 P BRD002 Bardet-Biedl Syndrome 61
1414 P TRC072 Treacher Collins Syndrome 1 61
1415 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 61
1416 VGT001 Vogt-Koyanagi-Harada Disease 60
1417 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
1418 PTR032 Peters-Plus Syndrome 60
1419 P EPD009 Epidermolysis Bullosa Dystrophica 59
1420 c NMN013 Niemann-Pick Disease, Type a 59
1421 ICH054 Ichthyosis, X-Linked 59
1422 c SPN294 Spinocerebellar Ataxia 1 58
1423 P FRD012 Friedreich Ataxia 1 58
1424 P STR022 Stargardt Disease 58
1425 HMF006 Hemifacial Microsomia 58
1426 P HLL001 Hallermann-Streiff Syndrome 58
1427 c MCL062 Mucolipidosis Ii Alpha/beta 58
1428 c BRD014 Bardet-Biedl Syndrome 2 58
1429 c NMN015 Niemann-Pick Disease, Type C1 57
1430 c PRX045 Peroxisome Biogenesis Disorder 1b 57
1431 MVL001 Mevalonic Aciduria 57
1432 P WRD001 Waardenburg's Syndrome 57
1433 P OCL013 Oculodentodigital Dysplasia 57
1434 P RTH001 Rothmund-Thomson Syndrome 57
1435 PRR016 Pierre Robin Syndrome 57
1436 CHR081 Choroideremia 57
1437 P STC001 Stickler Syndrome 56
1438 c MCP001 Mucopolysaccharidosis Iii 56
1439 c BRD011 Bardet-Biedl Syndrome 10 56
1440 RTN209 Retinoschisis 1, X-Linked, Juvenile 56
1441 c MYT020 Myotonic Dystrophy 2 56
1442 P STS008 Sotos Syndrome 1 56
1443 VRN004 Vernal Keratoconjunctivitis 56
1444 P SPN301 Spinocerebellar Ataxia 2 56
1445 c BRD010 Bardet-Biedl Syndrome 1 56
1446 PBL005 Piebald Trait 56
1447 ALK013 Alkaptonuria 56
1448 ALS001 Alstrom Syndrome 55
1449 PPL025 Popliteal Pterygium Syndrome 55
1450 c MCR113 Microvascular Complications of Diabetes 3 55
1451 c BRD013 Bardet-Biedl Syndrome 12 55
1452 HRL003 Hurler Syndrome 55
1453 c TYR012 Tyrosinemia, Type I 55
1454 c BRD012 Bardet-Biedl Syndrome 11 55
1455 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55
1456 KRT002 Keratomalacia 55
1457 ADM013 Adamantinoma of Long Bones 55
1458 CCT002 Cicatricial Pemphigoid 54
1459 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54
1460 ALL009 Allergic Conjunctivitis 53
1461 GLC012 Galactosialidosis 53
1462 P AXN002 Axenfeld-Rieger Syndrome 53
1463 CGN006 Cogan Syndrome 53
1464 c GNG001 Gangliosidosis Gm1 52
1465 c PSD066 Pseudohypoparathyroidism, Type Ib 52
1466 c WRD030 Waardenburg Syndrome, Type 1 52
1467 VTM028 Vitamin E, Familial Isolated Deficiency of 52
1468 c CCK007 Cockayne Syndrome B 52
1469 c SPN291 Spinocerebellar Ataxia 7 52
1470 c MCP043 Mucopolysaccharidosis, Type Iiia 52
1471 CLB010 Coloboma of Macula 52
1472 P MNN019 Mannosidosis, Beta a, Lysosomal 52
1473 CYT005 Cytomegalovirus Retinitis 51
1474 c STR084 Stargardt Disease 1 51
1475 c GLC097 Glaucoma 3, Primary Congenital, a 51
1476 CHR101 Char Syndrome 51
1477 INT054 Intraocular Lymphoma 50
1478 P MYT002 Myotonic Dystrophy 50
1479 c MCL046 Mucolipidosis Iii Alpha/beta 50
1480 PTS001 Patau Syndrome 50
1481 P PSD015 Pseudohypoparathyroidism 50
1482 P WLL002 Weill-Marchesani Syndrome 50
1483 P SCL015 Scleritis 50
1484 OPS006 Opsoclonus-Myoclonus Syndrome 50
1485 ACR012 Aicardi Syndrome 49
1486 CTY001 Cat Eye Syndrome 49
1487 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
1488 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1489 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 49
1490 P RHZ001 Rhizomelic Chondrodysplasia Punctata 49
1491 P KRT005 Keratoacanthoma 49
1492 SRS007 Sorsby Fundus Dystrophy 49
1493 P KRT007 Keratoconus 49
1494 c CCK008 Cockayne Syndrome a 48
1495 FCH001 Fuchs' Endothelial Dystrophy 48
1496 P TYR004 Tyrosinemia 48
1497 PRS012 Pars Planitis 48
1498 GLD006 Goldberg-Shprintzen Syndrome 48
1499 c SPN309 Spinocerebellar Ataxia 6 48
1500 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 47
1501 CHR008 Choroiditis 47
1502 CRD002 Cri-Du-Chat Syndrome 47
1503 c SPN293 Spinocerebellar Ataxia 12 47
1504 c HRM005 Hermansky-Pudlak Syndrome 1 47
1505 RTN001 Retinal Vasculitis 47
1506 NRM019 Neuraminidase Deficiency 47
1507 c ALB021 Albinism, Oculocutaneous, Type Ii 47
1508 c HRM006 Hermansky-Pudlak Syndrome 3 47
1509 P ATX024 Ataxia-Oculomotor Apraxia 3 47
1510 c SPN296 Spinocerebellar Ataxia 17 46
1511 FRB001 Farber Lipogranulomatosis 46
1512 c WRD020 Waardenburg Syndrome, Type 4a 46
1513 c BRD044 Bardet-Biedl Syndrome 17 46
1514 MCL075 Macular Dystrophy, Corneal 46
1515 TKL001 Tukel Syndrome 46
1516 NRR001 Neuroretinitis 46
1517 ACR058 Acrofacial Dysostosis 1, Nager Type 46
1518 c SPN314 Spinocerebellar Ataxia 10 46
1519 c CRN139 Cornelia De Lange Syndrome 1 46
1520 P NRD007 Neurodegeneration with Brain Iron Accumulation 46
1521 GLC011 Galactose Epimerase Deficiency 46
1522 LRN001 Laurence-Moon Syndrome 46
1523 MYP136 Myopathy, Centronuclear, X-Linked 46
1524 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 46
1525 P CRN276 Corneal Endothelial Dystrophy 45
1526 CNR007 Cone-Rod Dystrophy 6 45
1527 c USH038 Usher Syndrome, Type Iiia 45
1528 FSH001 Fish-Eye Disease 45
1529 c MCP044 Mucopolysaccharidosis, Type Iiib 45
1530 c TYR013 Tyrosinemia, Type Ii 45
1531 MCL027 Macular Dystrophy, Dominant Cystoid 45
1532 BLC001 Blue Cone Monochromacy 45
1533 OCL069 Ocular Motor Apraxia 45
1534 PST049 Postaxial Acrofacial Dysostosis 44
1535 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 44
1536 SCH076 Schnyder Corneal Dystrophy 44
1537 c BRD020 Bardet-Biedl Syndrome 8 44
1538 c SPN100 Spinocerebellar Ataxia 27 44
1539 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 44
1540 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 44
1541 c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 43
1542 CHR211 Chromosome 18p Deletion Syndrome 43
1543 c SPN305 Spinocerebellar Ataxia 11 43
1544 EST005 Esotropia 43
1545 CHR492 Chromosome 13q14 Deletion Syndrome 43
1546 TRP014 Triploidy 43
1547 c SPN312 Spinocerebellar Ataxia 14 43
1548 c BRD018 Bardet-Biedl Syndrome 6 43
1549 c BRD048 Bardet-Biedl Syndrome 18 42
1550 CND005 Cone Dystrophy 42
1551 KFR001 Kufor-Rakeb Syndrome 42
1552 c SPN311 Spinocerebellar Ataxia 13 42
1553 CTS003 Coats Disease 42
1554 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 42
1555 c BRD016 Bardet-Biedl Syndrome 4 42
1556 c NMN016 Niemann-Pick Disease, Type B 42
1557 c MCR130 Microvascular Complications of Diabetes 6 42
1558 GLC004 Galactokinase Deficiency 42
1559 c PRX059 Peroxisome Biogenesis Disorder 1a 41
1560 P SPS133 Spastic Paraplegia 2, X-Linked 41
1561 c HRM008 Hermansky-Pudlak Syndrome 5 41
1562 c BRD033 Bardet-Biedl Syndrome 13 41
1563 P OPT048 Opitz-Gbbb Syndrome 41
1564 CHR078 Chorioretinitis 41
1565 c ALB009 Albinism, Oculocutaneous, Type Ia 41
1566 APL002 Aplasia of Lacrimal and Salivary Glands 41
1567 c GM1004 Gm1-Gangliosidosis, Type I 41
1568 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 41
1569 c MCR263 Microphthalmia, Syndromic 1 41
1570 c SPN265 Spinocerebellar Ataxia 36 41
1571 c SPN103 Spinocerebellar Ataxia 31 40
1572 GLC098 Glaucoma-Related Pigment Dispersion Syndrome 40
1573 c BRD032 Bardet-Biedl Syndrome 14 40
1574 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 40
1575 GNT006 Giant Papillary Conjunctivitis 40
1576 c SPN290 Spinocerebellar Ataxia 15 40
1577 c CHR637 Choroidal Dystrophy, Central Areolar, 1 40
1578 c SPN106 Spinocerebellar Ataxia 5 40
1579 HRL004 Hurler-Scheie Syndrome 40
1580 c BRD015 Bardet-Biedl Syndrome 3 40
1581 HYP801 Hyperferritinemia with or Without Cataract 39
1582 c TYR011 Tyrosinemia, Type Iii 39
1583 c MCL016 Mucolipidosis Iii Gamma 39
1584 c AXN010 Axenfeld-Rieger Syndrome, Type 3 39
1585 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 39
1586 c PSD117 Pseudohypoparathyroidism, Type Ic 39
1587 c GM2005 Gm2-Gangliosidosis, Ab Variant 39
1588 CRN286 Corneal Dystrophy, Meesmann 39
1589 c PST022 Posterior Uveal Melanoma 39
1590 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 39
1591 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 39
1592 DPM007 Dopamine Beta-Hydroxylase Deficiency, Congenital 38
1593 c SPN308 Spinocerebellar Ataxia 28 38
1594 OPH002 Ophthalmia Neonatorum 38
1595 c BRD035 Bardet-Biedl Syndrome 15 38
1596 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 38
1597 CRN247 Corneal Dystrophy, Thiel-Behnke Type 38
1598 LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 38
1599 P MRN003 Marinesco-Sjogren Syndrome 38
1600 c LKD009 Leukodystrophy, Hypomyelinating, 5 38
1601 PRL047 Prolonged Electroretinal Response Suppression 37
1602 c ATS282 Autosomal Recessive Malignant Osteopetrosis 37
1603 c BRD017 Bardet-Biedl Syndrome 5 37
1604 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 37
1605 c WRD032 Waardenburg Syndrome, Type 2a 37
1606 CNC014 Cancer-Associated Retinopathy 37
1607 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 37
1608 c GM1005 Gm1-Gangliosidosis, Type Ii 36
1609 c OST126 Osteopetrosis, Autosomal Recessive 1 36
1610 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 36
1611 c SPN304 Spinocerebellar Ataxia 8 36
1612 c SPN094 Spinocerebellar Ataxia 18 36
1613 CRN237 Corneal Dystrophy, Avellino Type 36
1614 c STC015 Stickler Syndrome, Type I 36
1615 INF129 Infantile Cerebellar-Retinal Degeneration 36
1616 P LTT001 Lattice Corneal Dystrophy 36
1617 JBR005 Joubert Syndrome with Ocular Anomalies 36
1618 c SPN097 Spinocerebellar Ataxia 23 36
1619 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 36
1620 BTT001 Bietti Crystalline Corneoretinal Dystrophy 35
1621 P GNG010 Gangliosidosis Gm2 35
1622 TLS001 Tolosa-Hunt Syndrome 35
1623 SLF014 Sulfite Oxidase Deficiency, Isolated 35
1624 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 35
1625 c BRD045 Bardet-Biedl Syndrome 19 35
1626 c MCP045 Mucopolysaccharidosis, Type Iiic 35
1627 c SPN299 Spinocerebellar Ataxia 20 35
1628 BLP004 Blepharophimosis 34
1629 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 34
1630 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 34
1631 c WRD031 Waardenburg Syndrome, Type 3 34
1632 c NMN014 Niemann-Pick Disease, Type C2 34
1633 SPR034 Superior Limbic Keratoconjunctivitis 34
1634 c AXN012 Axenfeld-Rieger Syndrome, Type 2 34
1635 MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 34
1636 c PSD104 Pseudohypoparathyroidism, Type Ii 34
1637 c MCR120 Microvascular Complications of Diabetes 7 34
1638 c HRM009 Hermansky-Pudlak Syndrome 6 33
1639 PLS030 Plasminogen Deficiency, Type I 33
1640 c CRN236 Corneal Dystrophy, Lattice Type I 33
1641 c OST129 Osteopetrosis, Autosomal Recessive 2 33
1642 c FML008 Familial Retinoblastoma 33
1643 c BRD047 Bardet-Biedl Syndrome 16 33
1644 NRT011 Neurotrophic Keratopathy 33
1645 PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 33
1646 c WRD010 Waardenburg Syndrome Type 4 33
1647 c OST163 Osteopetrosis, Autosomal Recessive 3 33
1648 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 33
1649 OCL048 Oculoauricular Syndrome 33
1650 c ALB010 Albinism, Oculocutaneous, Type Ib 32
1651 FCH002 Fuchs' Heterochromic Uveitis 32
1652 c HRM012 Hermansky-Pudlak Syndrome 9 32
1653 CRN141 Corneal Dystrophy, Reis-Bucklers Type 32
1654 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 32
1655 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32
1656 c MCP046 Mucopolysaccharidosis, Type Iiid 32
1657 c WRD024 Waardenburg Syndrome, Type 4c 32
1658 P ALB023 Albinism, Ocular, with Sensorineural Deafness 32
1659 c MCP048 Mucopolysaccharidosis, Type Ivb 32
1660 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
1661 c MCR133 Microvascular Complications of Diabetes 4 32
1662 c SPN104 Spinocerebellar Ataxia 34 32
1663 c SPN101 Spinocerebellar Ataxia 29 31
1664 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
1665 c OST134 Osteopetrosis, Autosomal Recessive 6 31
1666 c SPN266 Spinocerebellar Ataxia 35 31
1667 c STC013 Stickler Syndrome, Type Ii 31
1668 LCR013 Lacrimal Duct Defect 31
1669 OCL033 Oculocerebral Syndrome with Hypopigmentation 31
1670 c BRD019 Bardet-Biedl Syndrome 7 31
1671 OCL063 Oculopharyngodistal Myopathy 31
1672 c MCR245 Microphthalmia, Syndromic 8 31
1673 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 30
1674 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 30
1675 MBM001 Meibomian Cyst 30
1676 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 30
1677 c SPN099 Spinocerebellar Ataxia 26 30
1678 c SPN105 Spinocerebellar Ataxia 4 30
1679 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 30
1680 P FRT001 Fourth Cranial Nerve Palsy 30
1681 c SPN095 Spinocerebellar Ataxia 19 30
1682 c MCR112 Microvascular Complications of Diabetes 2 30
1683 c CCK003 Cockayne Syndrome Type Ii 30
1684 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
1685 PRG123 Progeroid Syndrome, Neonatal 30
1686 c HRM020 Hermansky-Pudlak Syndrome 10 30
1687 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
1688 c GM1006 Gm1-Gangliosidosis, Type Iii 30
1689 c SPN096 Spinocerebellar Ataxia 21 30
1690 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
1691 c SPN283 Spinocerebellar Ataxia 37 29
1692 c WRD019 Waardenburg Syndrome, Type 4b 29
1693 CTR014 Cataract Microcornea Syndrome 29
1694 c HRM010 Hermansky-Pudlak Syndrome 7 29
1695 c PRX060 Peroxisome Biogenesis Disorder 5a 29
1696 c ALB020 Albinism, Oculocutaneous, Type Iii 29
1697 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 29
1698 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1699 P XLN161 X-Linked Chondrodysplasia Punctata 29
1700 FRN022 Frontofacionasal Dysplasia 29
1701 c GCH013 Gaucher Disease, Type Iiic 29
1702 LMB008 Limb-Mammary Syndrome 29
1703 LGH003 Leigh Syndrome, French Canadian Type 28
1704 c CCK002 Cockayne Syndrome Type I 28
1705 c ANR047 Aniridia 2 28
1706 CHR270 Chromosome 9p Duplication 28
1707 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28
1708 RTN035 Retinal Cone Dystrophy 3b 28
1709 c HRM007 Hermansky-Pudlak Syndrome 4 28
1710 c HRM011 Hermansky-Pudlak Syndrome 8 28
1711 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 28
1712 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 28
1713 TBL025 Tubulointerstitial Nephritis with Uveitis 28
1714 c SPN284 Spinocerebellar Ataxia 38 27
1715 c SPN372 Spinocerebellar Ataxia 43 27
1716 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 27
1717 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27
1718 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
1719 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1720 c CRN134 Cornelia De Lange Syndrome 2 27
1721 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 27
1722 P KRT014 Keratosis Follicularis Spinulosa Decalvans 27
1723 c MCR252 Microphthalmia, Syndromic 5 27
1724 c BRD050 Bardet-Biedl Syndrome 21 26
1725 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 26
1726 CNR003 Cone-Rod Dystrophy 1 26
1727 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 26
1728 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26
1729 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 26
1730 c PRX054 Peroxisome Biogenesis Disorder 12a 26
1731 c ALG016 Alagille Syndrome 2 26
1732 CRN235 Corneal Dystrophy, Groenouw Type I 26
1733 c SPN247 Spinocerebellar Ataxia Type 19/22 26
1734 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
1735 ACT120 Acute Zonal Occult Outer Retinopathy 26
1736 c SPN098 Spinocerebellar Ataxia 25 26
1737 BLD161 Blood Group, Globoside System 26
1738 c CCK004 Cockayne Syndrome Type Iii 26
1739 c PRX053 Peroxisome Biogenesis Disorder 14b 26
1740 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
1741 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
1742 HYP180 Hypertrichosis Lanuginosa Congenita 26
1743 CNR005 Cone-Rod Dystrophy 3 26
1744 c SPN383 Spinocerebellar Ataxia 42 25
1745 c PRX055 Peroxisome Biogenesis Disorder 11a 25
1746 c PRX065 Peroxisome Biogenesis Disorder 3a 25
1747 c CHN018 Chondrodysplasia Punctata 2, X-Linked 25
1748 c OST136 Osteopetrosis, Autosomal Recessive 7 25
1749 c CRN160 Corneal Dystrophy, Lattice Type Iiia 25
1750 CRN238 Corneal Dystrophy, Epithelial Basement Membrane 25
1751 RNG003 Ring Dermoid of Cornea 25
1752 CRL001 Cerulean Cataract 25
1753 VTR018 Vitreoretinal Degeneration, Snowflake Type 25
1754 c SPN286 Spinocerebellar Ataxia 40 24
1755 SRP002 Serpiginous Choroiditis 24
1756 c OST125 Osteopetrosis, Autosomal Dominant 1 24
1757 FML292 Familial Drusen 24
1758 c PRX091 Peroxisome Biogenesis Disorder 8a 24
1759 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1760 c KBK003 Kabuki Syndrome 2 24
1761 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
1762 c PRX057 Peroxisome Biogenesis Disorder 4a 24
1763 CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 24
1764 c PRX048 Peroxisome Biogenesis Disorder 10a 24
1765 c PRX046 Peroxisome Biogenesis Disorder 7a 24
1766 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 24
1767 c FRD006 Friedreich Ataxia 2 24
1768 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
1769 EDC001 Edict Syndrome 24
1770 c STS007 Sotos Syndrome 2 24
1771 c STR040 Stargardt Disease 3 23
1772 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 23
1773 CHR252 Chromosome 5p Duplication 23
1774 CHR167 Chorioretinal Atrophy, Progressive Bifocal 23
1775 c OST106 Osteopetrosis, Autosomal Recessive 8 23
1776 CNR006 Cone-Rod Dystrophy 5 23
1777 MCR067 Microcoria, Congenital 23
1778 c WRD029 Waardenburg Syndrome, Type 2b 23
1779 c OST120 Osteopetrosis, Autosomal Recessive 5 23
1780 CGN001 Cogan-Reese Syndrome 23
1781 c CRN209 Cornelia De Lange Syndrome 5 23
1782 c BRD051 Bardet-Biedl Syndrome 20 23
1783 c PRX052 Peroxisome Biogenesis Disorder 13a 23
1784 c BRD021 Bardet-Biedl Syndrome 9 23
1785 c ATX033 Ataxia-Oculomotor Apraxia 4 23
1786 c OST137 Osteopetrosis, Autosomal Recessive 4 23
1787 PLL009 Pellucid Marginal Degeneration 23
1788 GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 22
1789 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
1790 c LTT008 Lattice Corneal Dystrophy Type Ii 22
1791 CNR031 Cone-Rod Dystrophy, X-Linked, 1 22
1792 c PRX051 Peroxisome Biogenesis Disorder 6a 22
1793 c PRX050 Peroxisome Biogenesis Disorder 9b 22
1794 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
1795 CNR038 Cone-Rod Dystrophy, X-Linked, 3 22
1796 c ANR046 Aniridia 3 22
1797 MCL018 Macular Dystrophy, Concentric Annular 22
1798 c SPN323 Spinocerebellar Ataxia 41 22
1799 JRG001 Jorgenson Lenz Syndrome 22
1800 c CRN215 Cornelia De Lange Syndrome 4 22
1801 c SPN259 Spinocerebellar Ataxia 32 21
1802 c PRX058 Peroxisome Biogenesis Disorder 4b 21
1803 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
1804 c WRD022 Waardenburg Syndrome, Type 2d 21
1805 c CRN135 Cornelia De Lange Syndrome 3 21
1806 PRT015 Partial Third-Nerve Palsy 21
1807 c SPS198 Spastic Paraplegia 16, X-Linked 21
1808 c PRX047 Peroxisome Biogenesis Disorder 5b 21
1809 c SPN102 Spinocerebellar Ataxia 30 21
1810 YHV001 You-Hoover-Fong Syndrome 21
1811 c PRX062 Peroxisome Biogenesis Disorder 8b 21
1812 MCR330 Microphthalmia, Isolated, with Cataract 1 21
1813 CLB011 Coloboma of Macula with Type B Brachydactyly 21
1814 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
1815 CHR241 Chromosome 2q24 Microdeletion Syndrome 21
1816 CTR027 Cataract-Glaucoma 21
1817 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 20
1818 RTH002 Rutherfurd Syndrome 20
1819 c SPN418 Spinocerebellar Ataxia 44 20
1820 SBR011 Subaortic Stenosis--Short Stature Syndrome 20
1821 RDR002 Rodrigues Blindness 20
1822 c SPN107 Spinocerebellar Ataxia 9 20
1823 c PRX043 Peroxisome Biogenesis Disorder 6b 20
1824 c PRX066 Peroxisome Biogenesis Disorder 3b 19
1825 DRM015 Dermoids of Cornea 19
1826 c SPS062 Spastic Paraplegia 34, X-Linked 19
1827 c PRX056 Peroxisome Biogenesis Disorder 11b 19
1828 c RTH005 Rothmund-Thomson Syndrome Type 2 19
1829 c TRC071 Treacher Collins Syndrome 3 19
1830 MLG070 Malignant Iris Melanoma 19
1831 c KRT029 Keratoconus 1 19
1832 P PRX064 Peroxisome Biogenesis Disorder 2b 19
1833 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 19
1834 BRW002 Brown's Tendon Sheath Syndrome 19
1835 ISL067 Isolated Congenital Megalocornea 18
1836 c TRC073 Treacher Collins Syndrome 2 18
1837 SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 18
1838 c FML223 Familial Keratoacanthoma 18
1839 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 18
1840 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1841 c WRD026 Waardenburg Syndrome, Type 2c 18
1842 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 18
1843 c PRX089 Peroxisome Biogenesis Disorder 10b 18
1844 RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 18
1845 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 18
1846 c FRT006 Fourth Cranial Nerve Palsy, Familial Congenital 18
1847 CLB008 Coloboma of Eye Lens 18
1848 c PRX068 Peroxisome Biogenesis Disorder 7b 18
1849 P CHR449 Choroidal Dystrophy, Central Areolar 2 17
1850 c RTH004 Rothmund-Thomson Syndrome Type 1 17
1851 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
1852 CHR171 Choroideremia Hypopituitarism 17
1853 c CHR665 Choroidal Dystrophy, Central Areolar, 3 17
1854 CTR154 Cataract, Aberrant Oral Frenula, and Growth Retardation 17
1855 BLP042 Blepharoptosis, Myopia, and Ectopia Lentis 17
1856 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 17
1857 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 17
1858 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17
1859 c CRN068 Corneal Endothelial Dystrophy Type 2 17
1860 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 17
1861 DYS181 Dyssegmental Dysplasia with Glaucoma 17
1862 AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 17
1863 c SPN336 Spinocerebellar Ataxia Type 16 17
1864 c STS009 Sotos Syndrome 3 17
1865 CLB009 Coloboma of Iris 17
1866 c SPN420 Spinocerebellar Ataxia 46 16
1867 RTN211 Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract 16
1868 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 16
1869 MCR242 Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 16
1870 c STR054 Stargardt Disease 4 16
1871 CNR039 Cone-Rod Dystrophy, X-Linked, 2 16
1872 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 16
1873 MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 15
1874 PTS017 Ptosis, Strabismus, and Ectopic Pupils 15
1875 CNG457 Congenital Oculomotor Nerve Palsy 15
1876 c SPN419 Spinocerebellar Ataxia 45 15
1877 c KRT053 Keratoconus 7 15
1878 MLG062 Malignant Ciliary Body Melanoma 15
1879 c CHN017 Chondrodysplasia Punctata 1, X-Linked 14
1880 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 14
1881 ATY030 Atypical Pantothenate Kinase-Associated Neurodegeneration 14
1882 CLB032 Coloboma of Macula and Skeletal Anomalies 14
1883 GLC088 Glaucoma and Sleep Apnea 14
1884 c KRT050 Keratoconus 5 14
1885 c TYS005 Tay-Sachs Disease, B1 Variant 14
1886 ACT235 Acute Macular Neuroretinopathy 14
1887 MLG061 Malignant Choroid Melanoma 13
1888 CNG508 Congenital Corneal Opacities, Cornea Guttata, and Corectopia 13
1889 LGH017 Leigh Syndrome with Nephrotic Syndrome 13
1890 c KRT054 Keratoconus 8 12
1891 c KRT052 Keratoconus 6 12
1892 MCR069 Microcornea Corectopia Macular Hypoplasia 12
1893 c ACQ026 Acquired Pseudoxanthoma Elasticum 12
1894 CLR122 Ciliary Body Cancer 12
1895 NRV002 Nerve Fibre Bundle Defect 11
1896 c MLN039 Melanoma, Uveal 1 11
1897 TTL002 Total Third-Nerve Palsy 11
1898 c MLN041 Melanoma, Uveal 2 10
1899 c PSD023 Pseudo-Gaucher Disease 10
1900 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 10
1901 c KRT041 Keratoconus 4 10
1902 c KRT039 Keratoconus 2 10
1903 c KRT040 Keratoconus 3 10
1904 c HLL012 Hallermann-Streiff-Like Syndrome 10
1905 RRS002 Rare Isolated Myopia 10
1906 CHR045 Choroid Necrotic Melanoma 10
1907 CNJ005 Conjunctival Vascular Disease 9
1908 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 9
1909 NBL002 Noble Bass Sherman Syndrome 8
1910 CNG362 Congenital Trochlear Nerve Palsy 8
1911 CHR011 Choroid Spindle Cell Melanoma 8
1912 CLR002 Ciliary Body Spindle Cell Melanoma 8
1913 CHR448 Choroid Mixed Cell Melanoma 8
1914 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 8
1915 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 8
1916 OLG018 Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 8
1917 OLG019 Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 8
1918 CNG458 Congenital Abducens Nerve Palsy 8
1919 IRS001 Iris Spindle Cell Melanoma 7
1920 ORB004 Orbital Osteomyelitis 7
1921 c GM2001 Gm2 Gangliosidosis, 0 Variant 7
1922 CHR002 Chronic Lacrimal Gland Enlargement 7
1923 CHR014 Choroid Epithelioid Cell Melanoma 7
1924 PRL002 Prolapse of Lacrimal Gland 6
1925 SRS003 Serous Conjunctivitis Except Viral 6
1926 DPC001 Deep Corneal Vascularisation 6
1927 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 6
1928 ERL041 Early-Onset Zonular Cataract 6
1929 EXT057 Extensive Peripapillary Myelinated Nerve Fibers 6
1930 NRT003 Neurotrophic Keratoconjunctivitis 6
1931 CLR008 Ciliary Body Mixed Cell Melanoma 6
1932 IRS002 Iris Mixed Cell Melanoma 6
1933 INT023 Intermediate Cell Type Ciliary Body Melanoma 6
1934 CLR004 Ciliary Body Epithelioid Cell Melanoma 6
1935 PRM142 Primary Oculocerebral Lymphoma 5
1936 c MRN006 Marinesco-Sjogren-Like Syndrome 5
1937 NRG007 Neurogenic Palpebral Tumor 4
1938 c OCL037 Oculodentodigital Dysplasia Dominant 4
1939 P RTN024 Retinoblastoma 76
1940 c USH036 Usher Syndrome, Type I 61
1941 P USH001 Usher Syndrome 59
1942 VNH007 Von Hippel-Lindau Syndrome 72
1943 ABL002 Ablepharon-Macrostomia Syndrome 55
1944 MRC002 Marcus Gunn Phenomenon 49
1945 c MCR241 Microphthalmia, Syndromic 3 39
1946 P MCR251 Microphthalmia, Syndromic 6 30
1947 c MCR262 Microphthalmia, Syndromic 4 23
1948 c MCR312 Microphthalmia, Syndromic 10 19
1949 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 7
1950 WYB001 Wyburn Mason's Syndrome 27
1951 FLR001 Filarial Elephantiasis 37
1952 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 26
1953 P ATX030 Ataxia-Telangiectasia 80
1954 P NNN008 Noonan Syndrome 1 77
1955 MSC157 Muscular Dystrophy, Duchenne Type 74
1956 WLS001 Wilson Disease 72
1957 P SPR120 Supranuclear Palsy, Progressive, 1 70
1958 PTZ001 Peutz-Jeghers Syndrome 70
1959 LGH007 Leigh Syndrome 68
1960 P DYS007 Dyskeratosis Congenita 68
1961 NVS017 Nevus, Epidermal 66
1962 c EXD008 Exudative Vitreoretinopathy 1 65
1963 ACR006 Aceruloplasminemia 65
1964 P CCK001 Cockayne Syndrome 64
1965 MNK001 Menkes Disease 64
1966 P SRC025 Sarcoidosis 1 63
1967 RFS006 Refsum Disease, Classic 63
1968 LWC002 Lowe Oculocerebrorenal Syndrome 62
1969 P HRM001 Hermansky-Pudlak Syndrome 62
1970 CNC002 Cinca Syndrome 62
1971 P MCK013 Meckel Syndrome, Type 1 62
1972 NRR002 Norrie Disease 61
1973 CNG008 Congenital Ichthyosiform Erythroderma 61
1974 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 60
1975 c MCP004 Mucopolysaccharidosis Iv 60
1976 LCR014 Lacrimoauriculodentodigital Syndrome 59
1977 STR039 Sturge-Weber Syndrome 59
1978 P GRS003 Griscelli Syndrome 58
1979 ALX003 Alexander Disease 58
1980 INC021 Incontinentia Pigmenti 57
1981 FCL009 Focal Dermal Hypoplasia 57
1982 c PSD108 Pseudohypoparathyroidism, Type Ia 57
1983 c GCH015 Gaucher Disease, Type I 57
1984 NLP001 Nail-Patella Syndrome 56
1985 OST024 Osteoporosis-Pseudoglioma Syndrome 55
1986 P CNG001 Congenital Myasthenic Syndrome 55
1987 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 55
1988 P SHR029 Short Syndrome 54
1989 P SNR003 Senior-Loken Syndrome 1 54
1990 SCH068 Schwartz-Jampel Syndrome, Type 1 54
1991 c ORF040 Orofaciodigital Syndrome Viii 53
1992 MBS002 Moebius Syndrome 53
1993 MLT163 Multiple Pterygium Syndrome, Escobar Variant 53
1994 NNT017 Neonatal Adrenoleukodystrophy 52
1995 c ORF037 Orofaciodigital Syndrome I 51
1996 CHN055 Chanarin-Dorfman Syndrome 51
1997 P EXD001 Exudative Vitreoretinopathy 51
1998 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 51
1999 ELS001 Eales Disease 50
2000 P BRT029 Brittle Cornea Syndrome 2 50
2001 c RBN021 Rubinstein-Taybi Syndrome 1 50
2002 JCB001 Jacobsen Syndrome 50
2003 HYP691 Hypomelanosis of Ito 49
2004 NNN026 Noonan Syndrome with Multiple Lentigines 49
2005 OCL008 Oculopharyngeal Muscular Dystrophy 49
2006 ADL002 Adult Syndrome 48
2007 c GCH017 Gaucher Disease, Type Iii 47
2008 VCS001 Vici Syndrome 46
2009 P ORF001 Orofaciodigital Syndrome 46
2010 RTN021 Retinal Vascular Occlusion 45
2011 c GCH016 Gaucher Disease, Type Ii 45
2012 c HRM017 Hermansky-Pudlak Syndrome 2 45
2013 KDS001 Kid Syndrome 44
2014 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 44
2015 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 43
2016 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 43
2017 c ORF034 Orofaciodigital Syndrome Vi 43
2018 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 43
2019 c OST131 Osteopetrosis, Autosomal Dominant 2 43
2020 c SHR030 Short Qt Syndrome 42
2021 c NNN010 Noonan Syndrome 3 42
2022 P BLP047 Blepharocheilodontic Syndrome 1 41
2023 ADP007 Adie Pupil 41
2024 P PRS062 Persistent Hyperplastic Primary Vitreous 41
2025 c ATX040