Eye Diseases Category (3177 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 54
3 c OPT068 Optic Atrophy 3, Autosomal Dominant 35
4 LBR002 Leber Hereditary Optic Neuropathy 58
5 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 63
6 c 3MT015 3-Methylglutaconic Aciduria, Type I 45
7 c 3MT014 3-Methylglutaconic Aciduria, Type V 43
8 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 37
9 P 3MT007 3-Methylglutaconic Aciduria 33
10 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 29
11 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 21
12 LBR031 Leber Optic Atrophy and Dystonia 42
13 OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 29
14 NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 58
15 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 25
16 CLB003 Coloboma of Optic Nerve 44
17 OPT006 Optic Nerve Disease 60
18 CLR033 Color Vision Deficiency 42
19 SPT006 Septooptic Dysplasia 54
20 SPT019 Septo-Optic Dysplasia Spectrum 32
21 c FVL008 Foveal Hypoplasia 2 23
22 c OPT023 Optic Atrophy 2 22
23 CRB058 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 22
24 P OPT070 Optic Nerve Hypoplasia, Bilateral 49
25 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 47
26 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 39
27 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 36
28 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
29 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 28
30 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
31 EYL005 Eyelid Disease 40
32 OPT001 Optic Disk Drusen 38
33 c MCR124 Microphthalmia, Isolated 1 37
34 P MCR122 Microphthalmia, Isolated 5 30
35 c MCR137 Microphthalmia, Isolated 2 24
36 c MCR109 Microphthalmia, Isolated 4 23
37 c MCR114 Microphthalmia, Isolated 3 23
38 c MCR219 Microphthalmia, Isolated 8 21
39 c MCR108 Microphthalmia, Isolated 7 17
40 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 23
41 LBR030 Leber Optic Atrophy 40
42 SCH038 Schopf-Schulz-Passarge Syndrome 35
43 BHR001 Behr Syndrome 37
44 TRC055 Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina 15
45 P CLB034 Coloboma, Ocular, Autosomal Dominant 47
46 c BLP048 Blepharospasm, Benign Essential 40
47 P PHS005 Peho Syndrome 38
48 SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 28
49 c OPT071 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 16
50 P AGN002 Agnosia 62
51 P OPT009 Optic Neuritis 55
52 BSC005 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 33
53 SPS061 Spastic Paraplegia, Optic Atrophy, and Neuropathy 32
54 CRB159 Cerebral Visual Impairment 30
55 c OPT064 Optic Atrophy 11 24
56 c FRM002 Form Agnosia 15
57 P NRM001 Neuromyelitis Optica 66
58 RTN209 Retinoschisis 1, X-Linked, Juvenile 55
59 c NRM008 Neuromyelitis Optica Spectrum Disorder 33
60 EYL006 Eyelid Benign Neoplasm 28
61 c OPT024 Optic Atrophy 5 23
62 ICH066 Ichthyosis--Cheek--Eyebrow Syndrome 18
63 OPT005 Optic Nerve Astrocytoma 10
64 P RTN008 Retinitis Pigmentosa 79
65 RTN017 Retinal Detachment 62
66 BTT001 Bietti Crystalline Corneoretinal Dystrophy 46
67 TRT020 Tritanopia 45
68 c RTN051 Retinitis Pigmentosa 22 33
69 c NNS043 Nonsyndromic Retinitis Pigmentosa 32
70 c RTN068 Retinitis Pigmentosa 6 31
71 c RTN057 Retinitis Pigmentosa 29 29
72 c RTN053 Retinitis Pigmentosa 24 28
73 c RTN148 Retinitis Pigmentosa 63 22
74 c RTN206 Retinitis Pigmentosa, Late-Adult Onset 21
75 c RTN063 Retinitis Pigmentosa 34 19
76 c RTN061 Retinitis Pigmentosa 32 19
77 c RTN219 Retinitis Pigmentosa 85 15
78 CHS002 Chiasmal Syndrome 35
79 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 22
80 ADT008 Auditory Neuropathy and Optic Atrophy 21
81 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 18
82 FLC002 Fleck Retina, Familial Benign 17
83 P ANR048 Aniridia 1 63
84 RTN018 Retinal Disease 58
85 P RTN016 Retinal Degeneration 56
86 P CLR019 Color Blindness 49
87 ISC002 Ischemic Optic Neuropathy 48
88 c LTN004 Late-Onset Retinal Degeneration 47
89 VSL003 Visual Agnosia 40
90 ALN001 Aland Island Eye Disease 38
91 VSL002 Visual Epilepsy 33
92 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 28
93 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 24
94 c OPT065 Optic Atrophy 9 24
95 VSL004 Visual Cortex Disease 23
96 CHL024 Childhood Optic Nerve Glioma 18
97 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 17
98 VSL012 Visual Snow Syndrome 15
99 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 15
100 HYP742 Hyperpigmentation of Eyelids 12
101 SHR049 Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome 9
102 VNS001 Venous Tributary Occlusion of Retina 8
103 BLT005 Bilateral Meningioma of Optic Nerve 7
104 CHL023 Childhood Optic Tract Astrocytoma 6
105 c PX6002 Pax6-Related Aniridia 5
106 P ENC018 Encephalopathy 65
107 P WLF004 Wolfram Syndrome 60
108 c WLF013 Wolfram Syndrome 1 54
109 SCT002 Scotoma 42
110 TRC077 Trichomegaly 40
111 P HRD022 Hordeolum 34
112 OPT002 Optic Nerve Sheath Meningioma 32
113 CVT001 Cavitary Optic Disc Anomalies 30
114 OPT032 Optic Pathway Glioma 29
115 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 28
116 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 20
117 SPL058 Splenomegaly, Cytopenia, and Vision Loss 16
118 c INT047 Internal Hordeolum 14
119 CHR675 Chronic Relapsing Inflammatory Optic Neuropathy 13
120 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 7
121 P MYP006 Myopia 62
122 AST006 Astigmatism 51
123 c MYP127 Myopia 2, Autosomal Dominant 23
124 c MYP140 Myopia 17, Autosomal Dominant 21
125 c MYP138 Myopia 3, Autosomal Dominant 20
126 c MYP141 Myopia 5, Autosomal Dominant 19
127 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy 19
128 c MYP144 Myopia 12, Autosomal Dominant 18
129 c MYP146 Myopia 15, Autosomal Dominant 18
130 c MYP133 Myopia 18, Autosomal Recessive 17
131 c MYP147 Myopia 19, Autosomal Dominant 16
132 c MYP041 Myopia 8 16
133 c MYP040 Myopia 7 16
134 c MYP048 Myopia 9 16
135 c MYP044 Myopia 10 16
136 c MYP145 Myopia 16, Autosomal Dominant 15
137 c MYP143 Myopia 11, Autosomal Dominant 15
138 c MYP069 Myopia 14 14
139 BNC002 Binocular Vision Disease 13
140 c MYP084 Myopia 20, Autosomal Dominant 12
141 ALL005 Allergic Contact Dermatitis of Eyelid 8
142 P VTL001 Vitelliform Macular Dystrophy 43
143 OPT010 Optic Papillitis 39
144 INT323 Intraocular Pressure Quantitative Trait Locus 38
145 OCC002 Occult Macular Dystrophy 34
146 FST001 Foster-Kennedy Syndrome 33
147 EYL002 Eyelid Carcinoma 33
148 P ATM076 Autoimmune Retinopathy 32
149 VSL005 Visual Pathway Disease 23
150 CMB069 Combined Hamartoma of the Retina and Retinal Pigment Epithelium 22
151 BLN017 Balint Syndrome 16
152 c OPT059 Optic Atrophy 4 16
153 SHR097 Short Tarsus with Absence of Lower Eyelashes 15
154 c ACQ001 Acquired Color Blindness 15
155 FLC004 Fleck Retina of Kandori 13
156 ATS326 Autosomal Recessive Isolated Optic Atrophy 11
157 MLG010 Malignant Eyelid Melanoma 11
158 CNG395 Congenital Retinal Arteriovenous Communication 10
159 GLC005 Glaucomatous Atrophy of Optic Disc 9
160 ATM073 Autoimmune-Related Retinopathy and Optic Neuropathy 8
161 NNN006 Noninfectious Dermatoses of Eyelid 8
162 ANT020 Anterior Optic Tract Meningioma 7
163 PRS018 Parasitic Eyelid Infestation 6
164 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 6
165 CRT010 Crater-Like Holes of Optic Disc 6
166 c NDP001 Ndp-Related Retinopathies 6
167 CLB012 Coloboma of Optic Papilla 3
168 P ACH003 Achromatopsia 57
169 FND001 Fundus Albipunctatus 56
170 OCL052 Ocular Dominance 48
171 c LBR004 Leber Congenital Amaurosis 1 44
172 P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 38
173 c LBR012 Leber Congenital Amaurosis 2 37
174 ART110 Arteritic Anterior Ischemic Optic Neuropathy 34
175 3MC001 3mc Syndrome 2 31
176 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 27
177 c CND012 Cone Dystrophy 4 24
178 c CRN242 Corneal Dystrophy, Fuchs Endothelial, 2 23
179 HRL006 Harel-Yoon Syndrome 21
180 CMB047 Combined Oxidative Phosphorylation Deficiency 18 21
181 c OPT060 Optic Atrophy 8 20
182 c CRN121 Corneal Dystrophy, Fuchs Endothelial, 5 17
183 c CRN122 Corneal Dystrophy, Fuchs Endothelial, 7 16
184 NTR002 Nutritional Optic Neuropathy 15
185 VSL013 Visual Impairment and Progressive Phthisis Bulbi 14
186 P CTR002 Cataract 58
187 c GLC092 Glaucoma, Primary Open Angle 58
188 OCL006 Ocular Hypertension 56
189 P PTS002 Ptosis 55
190 c STR084 Stargardt Disease 1 54
191 GLC098 Glaucoma-Related Pigment Dispersion Syndrome 51
192 P OCL001 Ocular Albinism 48
193 RFR003 Refractive Error 46
194 ECT005 Ectropion 46
195 P CND005 Cone Dystrophy 45
196 c RTN150 Retinitis Pigmentosa 10 43
197 c NGH026 Night Blindness, Congenital Stationary, Type 1a 42
198 c CTR130 Cataract 9, Multiple Types 41
199 c LBR019 Leber Congenital Amaurosis 9 40
200 c CNR003 Cone-Rod Dystrophy 1 38
201 c CTR115 Cataract 16, Multiple Types 38
202 DST033 Distichiasis 38
203 c CNR023 Cone-Rod Dystrophy 8 37
204 c CNG513 Congenital Ptosis 37
205 c CTR170 Cataract 30, Multiple Types 37
206 c CTR141 Cataract 21, Multiple Types 33
207 c CNR014 Cone-Rod Dystrophy 16 33
208 c CTR122 Cataract 5, Multiple Types 33
209 PSD008 Pseudopapilledema 32
210 c CTR103 Cataract 4, Multiple Types 32
211 c CTR145 Cataract 44 32
212 c NGH007 Night Blindness, Congenital Stationary, Type 1b 31
213 c CTR095 Cataract 8, Multiple Types 31
214 c CTR158 Cataract 37 31
215 c MCR211 Microphthalmia, Isolated 6 31
216 c LBR018 Leber Congenital Amaurosis 8 31
217 c LBR016 Leber Congenital Amaurosis 6 31
218 c NGH025 Night Blindness, Congenital Stationary, Type 2a 31
219 c CTR132 Cataract 3, Multiple Types 30
220 c CTR125 Cataract 7 30
221 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 29
222 c CTR102 Cataract 2, Multiple Types 29
223 c CTR175 Cataract 24 28
224 c NGH029 Night Blindness, Congenital Stationary, Type 1e 28
225 c ANR047 Aniridia 2 28
226 c MCL059 Macular Dystrophy, Patterned, 1 28
227 c CTR121 Cataract 25 28
228 c MCL070 Macular Dystrophy, Patterned, 3 28
229 AMT001 Ametropic Amblyopia 27
230 c RTN140 Retinitis Pigmentosa 67 27
231 WGN007 Wagner Vitreoretinopathy 27
232 c CTR129 Cataract 31, Multiple Types 26
233 c CTR113 Cataract 11, Multiple Types 26
234 c PHL010 Peho-Like Syndrome 25
235 c OGC001 Oguchi Disease 1 25
236 c CTR169 Cataract 29 24
237 c LBR008 Leber Congenital Amaurosis 13 24
238 c NGH027 Night Blindness, Congenital Stationary, Type 1c 24
239 c CTR166 Cataract 33, Multiple Types 23
240 c CTR181 Cataract 18 23
241 c CTR116 Cataract 15, Multiple Types 23
242 c RTN166 Retinitis Pigmentosa 69 23
243 c CTR119 Cataract 32, Multiple Types 23
244 c NGH030 Night Blindness, Congenital Stationary, Type 1f 23
245 c CTR131 Cataract 17, Multiple Types 23
246 c CTR180 Cataract 22, Multiple Types 22
247 c CTR162 Cataract 47 22
248 c CTR165 Cataract 19, Multiple Types 22
249 c CTR184 Cataract 39, Multiple Types 22
250 c CNR027 Cone-Rod Dystrophy 17 22
251 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 21
252 c CTR105 Cataract 12, Multiple Types 21
253 c MCL071 Macular Dystrophy, Patterned, 2 21
254 P PTT054 Patterned Macular Dystrophy 21
255 c CTR159 Cataract 35 20
256 c NGH022 Night Blindness, Congenital Stationary, Type 1g 20
257 c PTS010 Ptosis, Hereditary Congenital 2 20
258 c CTR183 Cataract 38 20
259 c CTR163 Cataract 46, Juvenile-Onset 20
260 c CTR097 Cataract 34, Multiple Types 20
261 c CTR111 Cataract 36 20
262 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 20
263 c MCL061 Macular Dystrophy, Vitelliform, 4 19
264 c CTR139 Cataract 42 19
265 c CTR110 Cataract 26, Multiple Types 19
266 c STR054 Stargardt Disease 4 18
267 c MCL056 Macular Dystrophy, Vitelliform, 5 18
268 c CTR157 Cataract 28 18
269 c CTR106 Cataract 20, Multiple Types 18
270 c GLC079 Glaucoma 1, Open Angle, P 18
271 c CTR144 Cataract 43 18
272 c CTR185 Cataract 30 18
273 c CTR160 Cataract 45 18
274 c CTR178 Cataract 27 17
275 c OGC002 Oguchi Disease 2 17
276 c PTS018 Ptosis, Hereditary Congenital 1 16
277 JVN026 Jeavons Syndrome 15
278 c CTR128 Cataract 33 14
279 c CTR025 Cataract, Total Congenital 14
280 GRP007 Grouped Pigmentation of the Retina 14
281 c GLC048 Glaucoma 1, Open Angle, I 13
282 HYP046 Hypopigmentation of Eyelid 9
283 c CTR008 Cataract Congenital Autosomal Dominant 7
284 P CNJ013 Conjunctivitis 65
285 VTR013 Vitreoretinopathy, Neovascular Inflammatory 61
286 c RTN162 Retinitis Pigmentosa 2 52
287 c FRS014 Fraser Syndrome 1 50
288 AMB002 Amblyopia 49
289 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 49
290 ALB002 Albinism 48
291 KHN001 Kuhnt-Junius Degeneration 48
292 c USH035 Usher Syndrome Type 2 47
293 c USH021 Usher Syndrome, Type Iid 46
294 P BLP003 Blepharospasm 44
295 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 44
296 OCL025 Ocular Toxoplasmosis 43
297 CRN241 Corneal Dystrophy, Congenital Stromal 43
298 c RTN058 Retinitis Pigmentosa 3 41
299 c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 41
300 c ATM100 Autoimmune Optic Neuritis 39
301 PRR004 Preretinal Fibrosis 39
302 c CHR086 Chronic Conjunctivitis 38
303 c RTN069 Retinitis Pigmentosa 7 38
304 c RTN041 Retinitis Pigmentosa 11 37
305 c USH041 Usher Syndrome, Type if 36
306 c USH042 Usher Syndrome, Type Ig 36
307 c WLF009 Wolfram Syndrome 2 35
308 ISL119 Isolated Optic Neuritis 34
309 c LBR005 Leber Congenital Amaurosis 10 33
310 c ACH023 Achromatopsia 4 32
311 DGN003 Degeneration of Macula and Posterior Pole 32
312 c RTN070 Retinitis Pigmentosa 9 31
313 c BCT006 Bacterial Conjunctivitis 30
314 BCH003 Boucher-Neuhauser Syndrome 29
315 PRP026 Peripheral Retinal Degeneration 29
316 c USH031 Usher Syndrome, Type Ij 29
317 c USH030 Usher Syndrome, Type Ik 29
318 c ACT067 Acute Conjunctivitis 28
319 3MC002 3mc Syndrome 1 28
320 c LBR015 Leber Congenital Amaurosis 5 27
321 c MCL078 Macular Degeneration, Age-Related, 14 26
322 c USH044 Usher Syndrome, Type Iiib 26
323 TXC008 Toxic Optic Neuropathy 26
324 c FBR050 Fibrosis of Extraocular Muscles, Congenital, 2 25
325 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 25
326 P FVL006 Foveal Hypoplasia 1 24
327 c MCL043 Macular Degeneration, Age-Related, 2 24
328 c EXD004 Exudative Vitreoretinopathy 4 23
329 c NGH028 Night Blindness, Congenital Stationary, Type 1d 22
330 c MCL030 Macular Degeneration, Age-Related, 10 22
331 c ACH038 Achromatopsia 7 22
332 MCL057 Macular Dystrophy with Central Cone Involvement 21
333 c CLB022 Coloboma, Ocular, Autosomal Recessive 21
334 P PRM016 Primary Optic Atrophy 21
335 c MCL051 Macular Degeneration, Age-Related, 12 21
336 c NGH024 Night Blindness, Congenital Stationary, Type 1h 20
337 c EXD010 Exudative Vitreoretinopathy 6 20
338 c MCL052 Macular Degeneration, Age-Related, 13 20
339 c EXD012 Exudative Vitreoretinopathy 7 20
340 c LBR006 Leber Congenital Amaurosis 11 19
341 CLB018 Coloboma of Eyelid 19
342 c EXD006 Exudative Vitreoretinopathy 5 19
343 c LBR017 Leber Congenital Amaurosis 7 19
344 c MCL036 Macular Degeneration, Age-Related, 6 19
345 P MCL058 Macular Degeneration, Early-Onset 19
346 P TXC009 Toxic Maculopathy 19
347 SPN033 Spontaneous Ocular Nystagmus 19
348 c USH043 Usher Syndrome, Type Ih 19
349 c MYP074 Myopia 23, Autosomal Recessive 19
350 c MCL077 Macular Degeneration, Age-Related, 5 18
351 c MCL038 Macular Degeneration, Age-Related, 4 18
352 c FRS015 Fraser Syndrome 3 18
353 c USH045 Usher Syndrome, Type Iv 18
354 c MYP070 Myopia 21, Autosomal Dominant 18
355 APR010 Apraxia of Eyelid Opening 17
356 c CRN306 Corneal Dystrophy, Posterior Polymorphous, 4 17
357 OPT077 Optic Disc Pit 17
358 CNG355 Congenital Eyelid Retraction 17
359 P FBR081 Fibrosis of Extraocular Muscles, Congenital, 3c 16
360 c MYP075 Myopia 22, Autosomal Dominant 16
361 c FBR078 Fibrosis of Extraocular Muscles, Congenital, 5 16
362 c MCL041 Macular Degeneration, Age-Related, 7 16
363 c MYP090 Myopia 24, Autosomal Dominant 16
364 c FRS016 Fraser Syndrome 2 16
365 c MCL032 Macular Degeneration, Age-Related, 11 16
366 c MYP117 Myopia 25, Autosomal Dominant 15
367 WLF014 Wolfram Syndrome, Mitochondrial Form 15
368 c MCL044 Macular Degeneration, Age-Related, 9 15
369 c MCL065 Macular Degeneration, Age-Related, 15 15
370 VSP001 Vasoproliferative Tumor of the Retina 14
371 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 14
372 PSD005 Pseudoretinitis Pigmentosa 13
373 MYP135 Myopia 26, X-Linked, Female-Limited 13
374 INT334 Intellectual Developmental Disorder and Retinitis Pigmentosa 13
375 P FRS017 Fraser-Like Syndrome 13
376 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 13
377 SPT020 Spatial Visualization, Aptitude for 12
378 CHL133 Cholestasis with Gallstone, Ataxia, and Visual Disturbance 11
379 TNT001 Tented Eyebrows 11
380 P OPT029 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 10
381 BLS004 Blessig's Cysts 10
382 NRP050 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 10
383 OPT072 Opticocochleodentate Degeneration 10
384 c USH011 Usher Syndrome, Type 2b 10
385 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 10
386 VSL001 Visual Verbal Agnosia 9
387 FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 9
388 OPT067 Optic Atrophy with Demyelinating Disease of Cns 9
389 OPT069 Optic Atrophy with Negative Electroretinograms 9
390 MYL068 Myelinated Optic Nerve Fibers 9
391 RTN005 Retinal Lattice Degeneration 9
392 OPT073 Optic Atrophy--Spastic Paraplegia Syndrome 9
393 HLR003 Hole Retinal Cyst 9
394 IDP087 Idiopathic Optic Perineuritis 9
395 LTT009 Lattice Degeneration of Retina Leading to Retinal Detachment 8
396 CBB001 Cobblestone Retinal Degeneration 8
397 PRT024 Partial Optic Atrophy 7
398 CYS012 Cystoid Macular Retinal Degeneration 7
399 TRS032 Tristichiasis 7
400 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 7
401 SNL002 Senile Reticular Retinal Degeneration 7
402 XRD002 Xeroderma of Eyelid 6
403 ECZ001 Eczematous Dermatitis of Eyelid 6
404 PRP004 Peripheral Scars of Retina 6
405 CLB023 Coloboma of Inferior Eyelid 6
406 EYB006 Eyebrow, Whorl in 6
407 c TXC018 Toxic Maculopathy Due to Antimalarial Drugs 6
408 EYL004 Eyelid Degenerative Disease 6
409 HYP044 Hypotrichosis of Eyelid 5
410 DSC002 Discoid Lupus Erythematosus of Eyelid 5
411 HYP045 Hypertrichosis of Eyelid 5
412 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
413 CLB024 Coloboma of Superior Eyelid 5
414 SPS224 Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal 4
415 ECC013 Eccrine Syringofibroadenomatosis with Eyelid Abnormalities 3
416 VSL006 Visual Pathway and Hypothalamic Glioma, Childhood 2
417 P ATX030 Ataxia-Telangiectasia 83
418 PFF001 Pfeiffer Syndrome 79
419 P NNN008 Noonan Syndrome 1 79
420 P SRC025 Sarcoidosis 1 76
421 P NRF023 Neurofibromatosis, Type Ii 76
422 MRF001 Marfan Syndrome 76
423 BHC003 Behcet Syndrome 75
424 P MYS003 Myasthenia Gravis 74
425 P FML011 Familial Adenomatous Polyposis 72
426 P TRN020 Turner Syndrome 72
427 VNH007 Von Hippel-Lindau Syndrome 72
428 FBR012 Fabry Disease 72
429 P ALG028 Alagille Syndrome 1 71
430 P SPR120 Supranuclear Palsy, Progressive, 1 71
431 P FRG001 Fragile X Syndrome 70
432 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 70
433 P TYS001 Tay-Sachs Disease 70
434 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 69
435 c HRD010 Hereditary Spastic Paraplegia 69
436 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 69
437 SMT004 Smith-Lemli-Opitz Syndrome 69
438 P PSD087 Pseudoxanthoma Elasticum 68
439 P DYS007 Dyskeratosis Congenita 67
440 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
441 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
442 LWC002 Lowe Oculocerebrorenal Syndrome 67
443 P KBK002 Kabuki Syndrome 1 67
444 c FML346 Familial Adenomatous Polyposis 1 67
445 INC021 Incontinentia Pigmenti 67
446 c MCP050 Mucopolysaccharidosis, Type Ii 67
447 P GCH001 Gaucher's Disease 66
448 P KRB001 Krabbe Disease 66
449 P CCK001 Cockayne Syndrome 66
450 c NNN010 Noonan Syndrome 3 66
451 CRB011 Cerebrotendinous Xanthomatosis 65
452 c CNG411 Congenital Disorder of Glycosylation, Type in 65
453 c MCP049 Mucopolysaccharidosis, Type Vii 65
454 c GCH015 Gaucher Disease, Type I 65
455 NRR002 Norrie Disease 65
456 P BRD002 Bardet-Biedl Syndrome 65
457 WLL001 Williams-Beuren Syndrome 64
458 P TRC072 Treacher Collins Syndrome 1 64
459 P LPR021 Leprosy 3 63
460 P MCK013 Meckel Syndrome, Type 1 63
461 RFS006 Refsum Disease, Classic 63
462 P CTS001 Cutis Laxa 62
463 P UVT001 Uveitis 62
464 P NRN021 Neuronal Ceroid Lipofuscinosis 62
465 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
466 KLP010 Klippel-Trenaunay-Weber Syndrome 61
467 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
468 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 61
469 c BRD014 Bardet-Biedl Syndrome 2 61
470 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
471 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 60
472 VGT001 Vogt-Koyanagi-Harada Disease 60
473 c GLC097 Glaucoma 3, Primary Congenital, a 59
474 P OCL013 Oculodentodigital Dysplasia 59
475 P DST002 Distal Arthrogryposis 59
476 c PRX045 Peroxisome Biogenesis Disorder 1b 59
477 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
478 c GCH016 Gaucher Disease, Type Ii 59
479 STR039 Sturge-Weber Syndrome 58
480 P OCL002 Oculocutaneous Albinism 58
481 c BRD010 Bardet-Biedl Syndrome 1 58
482 c MNN047 Mannosidosis, Alpha B, Lysosomal 58
483 EXF001 Exfoliation Syndrome 58
484 P ICH004 Ichthyosis 57
485 LCR014 Lacrimoauriculodentodigital Syndrome 57
486 P WRD001 Waardenburg's Syndrome 57
487 STR020 Strabismus 57
488 CHN055 Chanarin-Dorfman Syndrome 56
489 P HLL001 Hallermann-Streiff Syndrome 56
490 P CRN108 Cranioectodermal Dysplasia 1 56
491 HRL003 Hurler Syndrome 55
492 MCL006 Macular Retinal Edema 55
493 c NNN012 Noonan Syndrome 5 55
494 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 55
495 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
496 OST024 Osteoporosis-Pseudoglioma Syndrome 55
497 c LBR014 Leber Congenital Amaurosis 4 55
498 KRT006 Keratoconjunctivitis 55
499 c GCH017 Gaucher Disease, Type Iii 55
500 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 54
501 LPR001 Lepromatous Leprosy 54
502 P END047 Endophthalmitis 54
503 MLT135 Multiple Sulfatase Deficiency 54
504 c INT064 Intermediate Uveitis 54
505 P CNG010 Congenital Stationary Night Blindness 54
506 ABL002 Ablepharon-Macrostomia Syndrome 54
507 c ANT034 Anterior Uveitis 54
508 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
509 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
510 P OPN001 Open-Angle Glaucoma 53
511 RTN003 Retinal Ischemia 53
512 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 53
513 DRY001 Dry Eye Syndrome 53
514 c WRD033 Waardenburg Syndrome, Type 2e 53
515 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
516 GLC012 Galactosialidosis 52
517 c ART120 Arthrogryposis, Distal, Type 3 52
518 c PST005 Posterior Uveitis 52
519 CCH002 Coach Syndrome 52
520 c MCR256 Microphthalmia, Syndromic 9 52
521 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 52
522 c BRD012 Bardet-Biedl Syndrome 11 52
523 P PNV001 Panuveitis 52
524 EXP004 Exophthalmos 52
525 NNT017 Neonatal Adrenoleukodystrophy 52
526 c NNN009 Noonan Syndrome 2 51
527 CRN027 Corneal Neovascularization 51
528 c PRX059 Peroxisome Biogenesis Disorder 1a 51
529 c CCK008 Cockayne Syndrome a 51
530 c ATM099 Autoimmune Uveitis 51
531 FND002 Fundus Dystrophy 51
532 ACT011 Acute Contagious Conjunctivitis 51
533 CTY001 Cat Eye Syndrome 51
534 STR072 Stromal Keratitis 51
535 c CCK007 Cockayne Syndrome B 51
536 c ALB020 Albinism, Oculocutaneous, Type Iii 50
537 c ART144 Arthrogryposis, Distal, Type 1a 50
538 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
539 CNJ012 Conjunctival Disease 50
540 P NGH001 Night Blindness 50
541 PTH003 Pathologic Nystagmus 50
542 c ART119 Arthrogryposis, Distal, Type 5 50
543 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
544 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 50
545 P NLX004 Neu-Laxova Syndrome 1 50
546 P RTN014 Retinal Artery Occlusion 50
547 P HYP087 Hypotrichosis 50
548 DBT006 Diabetic Macular Edema 49
549 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
550 ENH001 Enhanced S-Cone Syndrome 49
551 NVS001 Neovascular Glaucoma 49
552 c GRS014 Griscelli Syndrome, Type 2 49
553 RVS001 Revesz Syndrome 49
554 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 49
555 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
556 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 49
557 c BRD013 Bardet-Biedl Syndrome 12 49
558 P ERL057 Early Infantile Epileptic Encephalopathy 49
559 FRB001 Farber Lipogranulomatosis 49
560 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 49
561 P HRN001 Horner's Syndrome 48
562 ACR058 Acrofacial Dysostosis 1, Nager Type 48
563 TBR006 Tuberculoid Leprosy 48
564 RTN023 Retinitis 48
565 c OPT051 Opitz Gbbb Syndrome, Type I 48
566 P ANT088 Anterior Segment Dysgenesis 48
567 c AXN009 Axenfeld-Rieger Syndrome, Type 1 48
568 c ALB019 Albinism, Oculocutaneous, Type Iv 47
569 c USH037 Usher Syndrome, Type Iia 47
570 P MNN019 Mannosidosis, Beta a, Lysosomal 47
571 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
572 c WRD032 Waardenburg Syndrome, Type 2a 47
573 c AXN010 Axenfeld-Rieger Syndrome, Type 3 47
574 KRT008 Keratopathy 47
575 SYM002 Sympathetic Ophthalmia 47
576 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 47
577 c WRD020 Waardenburg Syndrome, Type 4a 47
578 c CHR095 Chronic Progressive External Ophthalmoplegia 47
579 MCR165 Microphthalmia with Limb Anomalies 47
580 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 47
581 P CRN028 Corneal Ulcer 47
582 c BRD044 Bardet-Biedl Syndrome 17 47
583 P DNR001 Duane Retraction Syndrome 46
584 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 46
585 MCL003 Macular Holes 46
586 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 46
587 c CTS045 Cutis Laxa, Autosomal Dominant 1 46
588 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
589 c MTC061 Mitochondrial Dna Depletion Syndrome 1 46
590 P SDR002 Siderosis 46
591 c BRD016 Bardet-Biedl Syndrome 4 46
592 c RTN172 Retinitis Pigmentosa 1 46
593 c LKD015 Leukodystrophy, Hypomyelinating, 3 46
594 c RTN177 Retinitis Pigmentosa 73 46
595 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
596 c ALB015 Albinism, Oculocutaneous, Type V 46
597 c WRD019 Waardenburg Syndrome, Type 4b 45
598 c ART061 Arthrogryposis, Distal, Type 2a 45
599 P MNN018 Mannosidosis 45
600 c WRD031 Waardenburg Syndrome, Type 3 45
601 P GLL032 Galloway-Mowat Syndrome 45
602 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 45
603 c BRD032 Bardet-Biedl Syndrome 14 45
604 BLL004 Bullous Keratopathy 45
605 IRD001 Iridocyclitis 45
606 CRN024 Corneal Disease 45
607 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
608 c BRD011 Bardet-Biedl Syndrome 10 45
609 BLP005 Blepharitis 45
610 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 45
611 ATP013 Atopic Keratoconjunctivitis 44
612 c LKD010 Leukodystrophy, Hypomyelinating, 2 44
613 c LKD019 Leukodystrophy, Hypomyelinating, 6 44
614 c NNN013 Noonan Syndrome 6 44
615 c MCL066 Macular Dystrophy, Vitelliform, 2 44
616 c OPT050 Opitz Gbbb Syndrome, Type Ii 44
617 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 44
618 c RTN142 Retinitis Pigmentosa 38 44
619 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 43
620 c ANT077 Anterior Segment Dysgenesis 1 43
621 VTR005 Vitreous Disease 43
622 c BRD020 Bardet-Biedl Syndrome 8 43
623 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 43
624 c NNN011 Noonan Syndrome 4 43
625 c CNG497 Congenital Disorder of Glycosylation, Type Iio 43
626 c HYP507 Hypotrichosis 1 43
627 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
628 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 43
629 LCR008 Lacrimal Apparatus Disease 43
630 CRN025 Corneal Dystrophy 43
631 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 42
632 c RTN160 Retinitis Pigmentosa 60 42
633 c MCK012 Meckel Syndrome, Type 6 42
634 VTR003 Vitreous Detachment 42
635 c BRD033 Bardet-Biedl Syndrome 13 42
636 P CRN026 Corneal Edema 42
637 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 42
638 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
639 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 42
640 c BRD048 Bardet-Biedl Syndrome 18 42
641 SPN331 Spondyloocular Syndrome 42
642 ARC023 Arcus Corneae 41
643 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
644 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
645 DBT090 Diabetes and Deafness, Maternally Inherited 41
646 c MCR263 Microphthalmia, Syndromic 1 41
647 VRN001 Vernal Conjunctivitis 41
648 NNC002 Nance-Horan Syndrome 41
649 c RTN043 Retinitis Pigmentosa 13 41
650 c ART146 Arthrogryposis, Distal, Type 9 41
651 P FRN036 Frontonasal Dysplasia 1 41
652 c BRD015 Bardet-Biedl Syndrome 3 41
653 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 41
654 c ALB016 Albinism, Oculocutaneous, Type Vii 41
655 c MCR261 Microphthalmia, Syndromic 2 41
656 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 41
657 c CNT028 Central Retinal Artery Occlusion 41
658 c MCK032 Meckel Syndrome, Type 3 41
659 CHR382 Chromosome 18q Deletion Syndrome 41
660 c GLC083 Glaucoma 3, Primary Infantile, B 40
661 ORB006 Orbital Cellulitis 40
662 c USH040 Usher Syndrome, Type Id 40
663 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
664 LWT001 Low Tension Glaucoma 40
665 SNL007 Senile Cataract 40
666 PRM024 Primary Angle-Closure Glaucoma 40
667 P CNG024 Congenital Nystagmus 40
668 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
669 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
670 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 40
671 c GLL038 Galloway-Mowat Syndrome 1 40
672 c SRC023 Sarcoidosis 2 40
673 c RTN143 Retinitis Pigmentosa 47 40
674 MRN002 Mooren's Ulcer 40
675 c CNG203 Congenital Disorder of Glycosylation, Type Iii 40
676 BRB006 Barber-Say Syndrome 40
677 LNS003 Lens Disease 40
678 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 40
679 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
680 c BRD018 Bardet-Biedl Syndrome 6 40
681 c USH020 Usher Syndrome, Type Iic 40
682 EXT022 Exotropia 40
683 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
684 c CTR098 Cataract 1, Multiple Types 40
685 c NNN024 Noonan Syndrome 9 40
686 c NNN021 Noonan Syndrome 8 40
687 c CNG389 Congenital Disorder of Glycosylation, Type Iim 40
688 HRL004 Hurler-Scheie Syndrome 39
689 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
690 OCL010 Ocular Hypotension 39
691 MYP139 Myopathy, Proximal, and Ophthalmoplegia 39
692 CHR386 Chromosome 6pter-P24 Deletion Syndrome 39
693 c DNR003 Duane Retraction Syndrome 1 39
694 c BRD035 Bardet-Biedl Syndrome 15 39
695 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 39
696 c KNB006 Knobloch Syndrome 1 39
697 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 39
698 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
699 c BRD017 Bardet-Biedl Syndrome 5 39
700 END072 Endotheliitis 39
701 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 39
702 EXC003 Excessive Tearing 39
703 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
704 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38
705 ORB013 Orbital Disease 38
706 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 38
707 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
708 c ANT086 Anterior Segment Dysgenesis 2 38
709 CRN285 Corneal Dystrophy, Fleck 38
710 DBT007 Diabetic Cataract 38
711 BLT001 Bilateral Retinoblastoma 38
712 HYP084 Hypopyon 38
713 HYP008 Hypertensive Retinopathy 38
714 INT042 Internuclear Ophthalmoplegia 38
715 c LKD009 Leukodystrophy, Hypomyelinating, 5 38
716 AST003 Asthenopia 38
717 BCK003 Background Diabetic Retinopathy 38
718 FNG016 Fungal Keratitis 38
719 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 38
720 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 38
721 c MNS014 Monosomy 22 38
722 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 38
723 c USH039 Usher Syndrome, Type Ic 38
724 HRP025 Herpes Simplex Virus Keratitis 38
725 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
726 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
727 RBS002 Rubeosis Iridis 38
728 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 38
729 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
730 SPP007 Suppression Amblyopia 38
731 CRT012 Cortical Blindness 38
732 CNJ007 Conjunctivochalasis 37
733 c WRB005 Warburg Micro Syndrome 4 37
734 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 37
735 CHR079 Choroid Disease 37
736 c MCK031 Meckel Syndrome, Type 2 37
737 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 37
738 c PRM032 Primary Congenital Glaucoma 37
739 P SPS008 Spastic Ataxia 37
740 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
741 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
742 c MTC010 Mitochondrial Dna Depletion Syndrome 37
743 c RTN136 Retinitis Pigmentosa 44 37
744 c CNR017 Cone-Rod Dystrophy 9 37
745 OCL004 Ocular Hyperemia 37
746 RTN013 Retinal Hemangioblastoma 37
747 EPC005 Epicanthus 37
748 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
749 c ATS076 Autosomal Recessive Stickler Syndrome 37
750 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 37
751 c CNR016 Cone-Rod Dystrophy 7 37
752 c WRD024 Waardenburg Syndrome, Type 4c 37
753 RCR001 Recurrent Corneal Erosion 37
754 PRS025 Presbyopia 37
755 c ANT071 Anterior Segment Dysgenesis 4 37
756 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
757 c LKD008 Leukodystrophy, Hypomyelinating, 4 36
758 c CNG197 Congenital Disorder of Glycosylation, Type Ih 36
759 c MCK033 Meckel Syndrome, Type 4 36
760 PPL019 Papillary Conjunctivitis 36
761 c RTN048 Retinitis Pigmentosa 19 36
762 EPT025 Epithelial Basement Membrane Dystrophy 36
763 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 36
764 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
765 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
766 c HYP581 Hypotrichosis 6 36
767 P JVN008 Juvenile Glaucoma 36
768 MND025 Mandibulofacial Dysostosis with Alopecia 36
769 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
770 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 36
771 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
772 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 36
773 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 36
774 BLP006 Blepharoconjunctivitis 36
775 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 36
776 c RTN066 Retinitis Pigmentosa 4 36
777 c MCK030 Meckel Syndrome, Type 7 36
778 c NNN025 Noonan Syndrome 10 36
779 GPS001 Gapo Syndrome 36
780 c RTN044 Retinitis Pigmentosa 14 36
781 BLP001 Blepharochalasis 36
782 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
783 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 36
784 c RTN131 Retinitis Pigmentosa 27 36
785 c BRD045 Bardet-Biedl Syndrome 19 36
786 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 36
787 BRN026 Branch Retinal Artery Occlusion 36
788 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
789 SHP001 Shipyard Eye 36
790 MGL003 Megalocornea 36
791 LGH012 Leigh Syndrome with Leukodystrophy 36
792 ANG004 Angioid Streaks 36
793 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 36
794 XRP001 Xerophthalmia 36
795 c RTN090 Retinitis Pigmentosa 55 36
796 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
797 PRM056 Primrose Syndrome 35
798 c MCK014 Meckel Syndrome, Type 5 35
799 INT082 Intraocular Retinoblastoma 35
800 P DCR003 Dacryoadenitis 35
801 PNG001 Pinguecula 35
802 c MCP051 Mucopolysaccharidosis, Type Ix 35
803 PST063 Postsynaptic Congenital Myasthenic Syndromes 35
804 c ANT023 Anterior Scleritis 35
805 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
806 c LBR007 Leber Congenital Amaurosis 12 35
807 DGN002 Degenerative Myopia 35
808 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 35
809 FRS019 Farsightedness 35
810 c RTN047 Retinitis Pigmentosa 18 35
811 EPT021 Epithelial Recurrent Erosion Dystrophy 35
812 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 35
813 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 35
814 c HYP559 Hypotrichosis 8 35
815 EXP002 Exposure Keratitis 35
816 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
817 IRT001 Iritis 35
818 c RTN054 Retinitis Pigmentosa 25 34
819 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
820 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
821 RTN002 Retinal Perforation 34
822 c RTN186 Retinitis Pigmentosa 75 34
823 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 34
824 c NNN020 Noonan Syndrome 7 34
825 c ART147 Arthrogryposis, Distal, Type 7 34
826 c LBR011 Leber Congenital Amaurosis 16 34
827 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 34
828 SCL013 Scleral Disease 34
829 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34
830 c WRB003 Warburg Micro Syndrome 2 34
831 PHT002 Photokeratitis 34
832 c PST008 Posterior Scleritis 34
833 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 34
834 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 34
835 c ICH023 Ichthyosis, Acquired 34
836 c RTN149 Retinitis Pigmentosa 42 34
837 c RTN055 Retinitis Pigmentosa 26 34
838 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
839 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
840 c JVN038 Juvenile Myasthenia Gravis 34
841 P BST001 Bestrophinopathy 34
842 BSL037 Basal Laminar Drusen 34
843 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
844 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 34
845 PHR002 Pharyngoconjunctival Fever 34
846 c BRD047 Bardet-Biedl Syndrome 16 34
847 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 34
848 SVR002 Severe Nonproliferative Diabetic Retinopathy 34
849 c MTC060 Mitochondrial Dna Depletion Syndrome 9 33
850 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
851 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 33
852 c ORT011 Orthostatic Hypotension 1 33
853 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 33
854 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
855 c MYS011 Myasthenia Gravis Congenital 33
856 c RTN165 Retinitis Pigmentosa 68 33
857 c WRD010 Waardenburg Syndrome Type 4 33
858 c CTR118 Cataract 14, Multiple Types 33
859 c MTC058 Mitochondrial Dna Depletion Syndrome 6 33
860 ORB008 Orbital Plasma Cell Granuloma 33
861 c RTN062 Retinitis Pigmentosa 33 33
862 FLM001 Filamentary Keratitis 33
863 c AXN012 Axenfeld-Rieger Syndrome, Type 2 33
864 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 33
865 LCR001 Lacrimal Duct Obstruction 33
866 UNL002 Unilateral Retinoblastoma 33
867 c CNG379 Congenital Disorder of Glycosylation, Type It 33
868 c RTN059 Retinitis Pigmentosa 30 33
869 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
870 HRD016 Hereditary Retinal Dystrophy 33
871 P WRB001 Warburg Micro Syndrome 33
872 CRN274 Corneal Dystrophy, Posterior Amorphous 33
873 CRN288 Corneal Dystrophy, Band-Shaped 33
874 OLV004 Oliver-Mcfarlane Syndrome 33
875 c PRX055 Peroxisome Biogenesis Disorder 11a 33
876 CLR133 Colorblindness, Partial, Protan Series 33
877 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
878 ENT005 Entropion 32
879 PNC012 Punctate Epithelial Keratoconjunctivitis 32
880 c RTN042 Retinitis Pigmentosa 12 32
881 c ACT047 Acute Endophthalmitis 32
882 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
883 DSS006 Disuse Amblyopia 32
884 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 32
885 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
886 ANG062 Angioosteohypertrophic Syndrome 32
887 c RTN133 Retinitis Pigmentosa 43 32
888 c RTN056 Retinitis Pigmentosa 28 32
889 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
890 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 32
891 END034 Endocrine Exophthalmos 32
892 P KNB001 Knobloch Syndrome 32
893 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 32
894 ISL062 Isolated Plagiocephaly 32
895 c RTN050 Retinitis Pigmentosa 20 32
896 STR046 Stargardt Macular Degeneration 32
897 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 32
898 c ORT012 Orthostatic Hypotension 2 32
899 c WLL036 Weill-Marchesani Syndrome 1 32
900 CRN273 Corneal Dystrophy, Subepithelial Mucinous 32
901 c RTN067 Retinitis Pigmentosa 41 32
902 c RTN129 Retinitis Pigmentosa 49 31
903 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 31
904 ANS004 Anisometropia 31
905 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
906 P DCR004 Dacryocystitis 31
907 c CNR013 Cone-Rod Dystrophy 12 31
908 c GLC041 Glaucoma 1, Open Angle, a 31
909 P CRN249 Cornea Plana 31
910 c RTN134 Retinitis Pigmentosa 40 31
911 c MCK034 Meckel Syndrome, Type 8 31
912 RDG001 Red-Green Color Blindness 31
913 c RTN046 Retinitis Pigmentosa 17 31
914 c MTC063 Mitochondrial Dna Depletion Syndrome 3 31
915 c SPS031 Spastic Paraplegia 23 31
916 HYD007 Hydrophthalmos 31
917 c HYP515 Hypotrichosis 3 31
918 c CND011 Cone Dystrophy 3 31
919 P ACT028 Acute Closed-Angle Glaucoma 31
920 c RTN064 Retinitis Pigmentosa 35 31
921 c MTC088 Mitochondrial Dna Depletion Syndrome 13 31
922 c RTN116 Retinitis Pigmentosa 56 31
923 P SPS012 Spastic Paraplegia 3a 31
924 P HYP700 Hypomyelinating Leukodystrophy 31
925 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 31
926 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
927 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 31
928 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
929 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
930 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
931 ACT038 Acute Retrobulbar Neuritis 31
932 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
933 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
934 c LBR013 Leber Congenital Amaurosis 3 30
935 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
936 c RTN169 Retinitis Pigmentosa 70 30
937 ENP001 Enophthalmos 30
938 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
939 IRS003 Iris Disease 30
940 c RTN114 Retinitis Pigmentosa 58 30
941 c BRD019 Bardet-Biedl Syndrome 7 30
942 c CRN109 Cranioectodermal Dysplasia 2 30
943 c BST008 Bestrophinopathy, Autosomal Recessive 30
944 c CNG188 Congenital Disorder of Glycosylation, Type if 30
945 HYP048 Hypotropia 30
946 c ACQ027 Acquired Cutis Laxa 30
947 BRD005 Borderline Leprosy 30
948 CNJ001 Conjugate Gaze Palsy 30
949 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
950 c WLL037 Weill-Marchesani Syndrome 2 30
951 STR019 Steroid-Induced Glaucoma 30
952 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 30
953 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
954 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 30
955 RTN006 Retinal Drusen 30
956 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 30
957 LNS001 Lens Subluxation 30
958 LGP001 Lagophthalmos 30
959 c RTN171 Retinitis Pigmentosa 59 30
960 CRN010 Corneal Granular Dystrophy 30
961 c RTN210 Retinitis Pigmentosa 50 30
962 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 30
963 c RTN152 Retinitis Pigmentosa 66 30
964 c PRX060 Peroxisome Biogenesis Disorder 5a 30
965 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
966 IMM002 Immature Cataract 30
967 CNG005 Congenital Aphakia 30
968 P VTR008 Vitreoretinal Degeneration 30
969 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
970 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 30
971 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
972 CNJ017 Conjunctival Nevus 29
973 c PRX063 Peroxisome Biogenesis Disorder 2a 29
974 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 29
975 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
976 STR086 Stromal Dystrophy 29
977 c SPS039 Spastic Paraplegia 5a 29
978 c CTR096 Cataract 6, Multiple Types 29
979 c RBN008 Rubinstein-Taybi Syndrome 2 29
980 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
981 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 29
982 CYC001 Cycloplegia 29
983 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 29
984 SVN002 Sveinsson Chorioretinal Atrophy 29
985 c MTC059 Mitochondrial Dna Depletion Syndrome 5 29
986 c ANR046 Aniridia 3 29
987 c ART112 Arthrogryposis, Distal, Type 10 29
988 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
989 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
990 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 29
991 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 29
992 c MTC074 Metachromatic Leukodystrophy, Adult Form 29
993 c PRX056 Peroxisome Biogenesis Disorder 11b 29
994 HYP047 Hypertropia 29
995 c HYP525 Hypotrichosis 2 29
996 ACT022 Acute Retinal Necrosis Syndrome 29
997 SPS002 Spastic Entropion 28
998 c DYS039 Dyskeratosis Congenita Autosomal Dominant 28
999 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 28
1000 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 28
1001 c HYP577 Hypotrichosis 13 28
1002 c SPS092 Spastic Paraplegia 11 28
1003 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 28
1004 c ERL012 Early-Onset Glaucoma 28
1005 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 28
1006 c CHR054 Chronic Closed-Angle Glaucoma 28
1007 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 28
1008 c INF019 Infectious Anterior Uveitis 28
1009 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 28
1010 LRY022 Laryngoonychocutaneous Syndrome 28
1011 P SCL047 Sclerocornea 28
1012 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
1013 RTN019 Retinal Telangiectasia 28
1014 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 28
1015 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 28
1016 c RTN106 Retinitis Pigmentosa 51 28
1017 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 28
1018 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
1019 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 28
1020 c LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 28
1021 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 28
1022 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
1023 c ART104 Arthrogryposis, Distal, Type 5d 28
1024 SCL014 Scleral Staphyloma 28
1025 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28
1026 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28
1027 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
1028 SNL004 Senile Ectropion 28
1029 c ANT084 Anterior Segment Dysgenesis 3 28
1030 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
1031 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 28
1032 c PRX048 Peroxisome Biogenesis Disorder 10a 28
1033 c PRX054 Peroxisome Biogenesis Disorder 12a 28
1034 c PRX053 Peroxisome Biogenesis Disorder 14b 28
1035 LKC002 Leukocoria 28
1036 c LPR022 Leprosy 2 27
1037 CRN009 Corneal Ectasia 27
1038 SLF015 Self-Improving Collodion Baby 27
1039 RGL001 Regular Astigmatism 27
1040 OLG014 Oligocone Trichromacy 27
1041 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 27
1042 c FRN033 Frontonasal Dysplasia 2 27
1043 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 27
1044 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
1045 PRL014 Paralytic Squint 27
1046 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 27
1047 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
1048 c CTR174 Cataract 40 27
1049 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
1050 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 27
1051 c INF122 Infantile Krabbe Disease 27
1052 MNS013 Monosomy 13q34 27
1053 IRR001 Irregular Astigmatism 27
1054 c LBR009 Leber Congenital Amaurosis 14 27
1055 CHR053 Chronic Follicular Conjunctivitis 27
1056 c RTN146 Retinitis Pigmentosa 62 27
1057 c FML299 Familial Adenomatous Polyposis 3 27
1058 CLS047 Classic Progressive Supranuclear Palsy Syndrome 27
1059 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
1060 CNJ010 Conjunctival Degeneration 27
1061 ISL011 Isolated Aniridia 27
1062 PRF002 Perforated Corneal Ulcer 27
1063 c PRX051 Peroxisome Biogenesis Disorder 6a 27
1064 TTR023 Tetraamelia-Multiple Malformations Syndrome 27
1065 c DYS040 Dyskeratosis Congenita Autosomal Recessive 27
1066 CCT001 Cicatricial Ectropion 27
1067 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
1068 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 27
1069 VST003 Vestibular Nystagmus 26
1070 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
1071 ACC003 Accommodative Esotropia 26
1072 c MCR352 Microphthalmia, Isolated, with Coloboma 6 26
1073 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
1074 c RTN052 Retinitis Pigmentosa 23 26
1075 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 26
1076 c SPS036 Spastic Paraplegia 3 26
1077 c SPS212 Spastic Ataxia 5, Autosomal Recessive 26
1078 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 26
1079 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 26
1080 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
1081 c SPS091 Spastic Paraplegia 4 26
1082 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 26
1083 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 26
1084 c SPS021 Spastic Paraplegia 10 26
1085 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 26
1086 c BRD021 Bardet-Biedl Syndrome 9 26
1087 CHR077 Chorioretinal Scar 26
1088 MCH006 Mechanical Strabismus 26
1089 c LKD020 Leukodystrophy, Hypomyelinating, 10 26
1090 CLR132 Colorblindness, Partial, Deutan Series 26
1091 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
1092 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 26
1093 PSD004 Pseudomembranous Conjunctivitis 26
1094 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 26
1095 ISL089 Isolated Scaphocephaly 26
1096 c RTN176 Retinitis Pigmentosa 71 26
1097 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
1098 c ALB017 Albinism, Oculocutaneous, Type Vi 26
1099 BRN041 Bornholm Eye Disease 26
1100 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
1101 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
1102 c GLL040 Galloway-Mowat Syndrome 3 26
1103 c HRD186 Hereditary Spastic Paraplegia 51 26
1104 c BRD050 Bardet-Biedl Syndrome 21 26
1105 BTT011 Butterfly-Shaped Pigment Dystrophy 26
1106 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 26
1107 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
1108 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
1109 c KBK003 Kabuki Syndrome 2 26
1110 P PRM227 Primary Orthostatic Hypotension 26
1111 MRG001 Morgagni Cataract 26
1112 c CRN110 Cranioectodermal Dysplasia 3 26
1113 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
1114 SPR019 Superficial Keratitis 26
1115 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
1116 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 25
1117 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 25
1118 SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 25
1119 c PRX050 Peroxisome Biogenesis Disorder 9b 25
1120 ORB007 Orbital Cyst 25
1121 c RTN060 Retinitis Pigmentosa 31 25
1122 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
1123 VTR001 Vitreoretinal Dystrophy 25
1124 TTR027 Tetrasomy 15q26 25
1125 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 25
1126 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 25
1127 OPH001 Ophthalmomyiasis 25
1128 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 25
1129 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 25
1130 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 25
1131 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 25
1132 TTR019 Tetrasomy 5p 25
1133 STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 25
1134 c PRX046 Peroxisome Biogenesis Disorder 7a 25
1135 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
1136 c MCR212 Microphthalmia, Syndromic 12 25
1137 c PRX091 Peroxisome Biogenesis Disorder 8a 25
1138 PNP001 Panophthalmitis 25
1139 CRN128 Corneal Dystrophy, Endothelial, X-Linked 25
1140 c ART122 Arthrogryposis, Distal, Type 8 25
1141 MTR001 Mature Cataract 25
1142 c PRX057 Peroxisome Biogenesis Disorder 4a 25
1143 c CHR093 Chronic Orbital Inflammation 25
1144 CRN022 Corneal Degeneration 25
1145 c SPS025 Spastic Paraplegia 15 25
1146 ISL061 Isolated Brachycephaly 25
1147 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
1148 PGM007 Pigmented Paravenous Chorioretinal Atrophy 25
1149 c PRX065 Peroxisome Biogenesis Disorder 3a 25
1150 c MCK028 Meckel Syndrome 13 25
1151 c FRN032 Frontonasal Dysplasia 3 25
1152 IND004 Indeterminate Leprosy 25
1153 RTN004 Retinal Microaneurysm 25
1154 P RTN102 Retinitis Pigmentosa, Y-Linked 25
1155 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 25
1156 ISL087 Isolated Oxycephaly 25
1157 HRD019 Hereditary Choroidal Atrophy 25
1158 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 25
1159 c ANT085 Anterior Segment Dysgenesis 5 25
1160 c PRX043 Peroxisome Biogenesis Disorder 6b 25
1161 c ANT083 Anterior Segment Dysgenesis 7 25
1162 c PSD047 Pseudo-Turner Syndrome 25
1163 c SPS208 Spastic Ataxia 4, Autosomal Recessive 24
1164 c FML339 Familial Adenomatous Polyposis 4 24
1165 c KRT029 Keratoconus 1 24
1166 c GLC078 Glaucoma 1, Open Angle, F 24
1167 c RTN178 Retinitis Pigmentosa 72 24
1168 c RTN159 Retinitis Pigmentosa 45 24
1169 c RTN190 Retinitis Pigmentosa 76 24
1170 ALT003 Alternating Exotropia 24
1171 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 24
1172 RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 24
1173 c LKD016 Leukodystrophy, Hypomyelinating, 9 24
1174 c LKD030 Leukodystrophy, Hypomyelinating, 17 24
1175 P NNT006 Neonatal Myasthenia Gravis 24
1176 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
1177 CRN004 Corneal Abscess 24
1178 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 24
1179 MTC181 Mitochondrial Dna-Related Progressive External Ophthalmoplegia 24
1180 PHK008 Phakomatosis Cesioflammea 24
1181 c FML347 Familial Adenomatous Polyposis 2 24
1182 c WLL040 Weill-Marchesani Syndrome 4 24
1183 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
1184 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
1185 PRT101 Poretti-Boltshauser Syndrome 24
1186 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
1187 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 24
1188 c CRN111 Cranioectodermal Dysplasia 4 24
1189 MNC001 Monocular Esotropia 24
1190 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
1191 c PRX052 Peroxisome Biogenesis Disorder 13a 24
1192 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 24
1193 c SPS027 Spastic Paraplegia 17 24
1194 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
1195 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 24
1196 c WLL038 Weill-Marchesani Syndrome 3 24
1197 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 24
1198 c RTN141 Retinitis Pigmentosa 39 24
1199 c CHR060 Chronic Dacryocystitis 24
1200 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 24
1201 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 24
1202 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1203 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 24
1204 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 24
1205 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 24
1206 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 24
1207 c MCR228 Microphthalmia, Syndromic 13 24
1208 P XLN065 X-Linked Infantile Nystagmus 24
1209 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 24
1210 c RTN147 Retinitis Pigmentosa 48 23
1211 P PST016 Posterior Polar Cataract 23
1212 ISL019 Isolated Duane Retraction Syndrome 23
1213 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
1214 c MCK035 Meckel Syndrome, Type 10 23
1215 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 23
1216 ANS002 Aniseikonia 23
1217 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 23
1218 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 23
1219 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
1220 TRM002 Traumatic Glaucoma 23
1221 c WRD029 Waardenburg Syndrome, Type 2b 23
1222 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 23
1223 c STR040 Stargardt Disease 3 23
1224 c SPS142 Spastic Ataxia 2, Autosomal Recessive 23
1225 c WRB004 Warburg Micro Syndrome 3 23
1226 PRT032 Partial Central Choroid Dystrophy 23
1227 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 23
1228 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 23
1229 INT012 Interval Angle-Closure Glaucoma 23
1230 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 23
1231 DRM043 Dermochondrocorneal Dystrophy 23
1232 c ART128 Arthrogryposis, Distal, Type 6 23
1233 SHR065 Short Stature with Microcephaly and Distinctive Facies 23
1234 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
1235 c PRX058 Peroxisome Biogenesis Disorder 4b 23
1236 c LKD023 Leukodystrophy, Hypomyelinating, 12 23
1237 c PRX047 Peroxisome Biogenesis Disorder 5b 23
1238 c RTN085 Retinitis Pigmentosa 54 23
1239 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 23
1240 SHK001 Shaken Baby Syndrome 23
1241 c MTC126 Mitochondrial Dna Depletion Syndrome 14 23
1242 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 23
1243 c PRX062 Peroxisome Biogenesis Disorder 8b 23
1244 c LKD021 Leukodystrophy, Hypomyelinating, 11 23
1245 c BRD051 Bardet-Biedl Syndrome 20 23
1246 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 23
1247 MSC089 Mosaic Monosomy X 23
1248 PRL018 Purulent Endophthalmitis 23
1249 c RTN213 Retinitis Pigmentosa 80 23
1250 c WRD022 Waardenburg Syndrome, Type 2d 23
1251 c LBR010 Leber Congenital Amaurosis 15 23
1252 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
1253 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
1254 c RTN144 Retinitis Pigmentosa 61 23
1255 c CNR032 Cone-Rod Dystrophy 21 23
1256 c SPS013 Spastic Paraplegia 8 23
1257 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 23
1258 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 22
1259 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 22
1260 c ART131 Arthrogryposis, Distal, Type 4 22
1261 DPT001 Dipetalonemiasis 22
1262 c ADL084 Adult-Onset Myasthenia Gravis 22
1263 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 22
1264 c SPS020 Spastic Paraplegia 1 22
1265 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 22
1266 3MC004 3mc Syndrome 3 22
1267 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 22
1268 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 22
1269 KRT074 Keratoendotheliitis Fugax Hereditaria 22
1270 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
1271 c LKD028 Leukodystrophy, Hypomyelinating, 15 22
1272 PHC001 Phacolytic Glaucoma 22
1273 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
1274 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 22
1275 c GLL041 Galloway-Mowat Syndrome 4 22
1276 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
1277 P MNS011 Monosomy 9q22.3 22
1278 c CNR026 Cone-Rod Dystrophy 18 22
1279 c CNR021 Cone-Rod Dystrophy 10 22
1280 c CTR124 Cataract 10, Multiple Types 22
1281 c MCR217 Microphthalmia, Syndromic 11 22
1282 c HRN024 Horner Syndrome, Congenital 22
1283 RTN212 Retinal Dystrophy with or Without Macular Staphyloma 22
1284 c NLX003 Neu-Laxova Syndrome 2 22
1285 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 22
1286 FLY003 Flynn-Aird Syndrome 22
1287 c MCL073 Macular Dystrophy, Vitelliform, 1 22
1288 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
1289 c MCK026 Meckel Syndrome 12 22
1290 c SPS191 Spastic Ataxia 7, Autosomal Dominant 22
1291 c HYP578 Hypotrichosis 12 22
1292 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 22
1293 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
1294 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
1295 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 22
1296 c GLL042 Galloway-Mowat Syndrome 5 22
1297 c HYP576 Hypotrichosis 4 22
1298 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
1299 c RTN117 Retinitis Pigmentosa 57 22
1300 c LBR029 Leber Congenital Amaurosis 17 22
1301 c RTN157 Retinitis Pigmentosa 37 22
1302 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
1303 P ERL043 Early-Onset Nuclear Cataract 22
1304 c CNR012 Cone-Rod Dystrophy 11 22
1305 c CNR025 Cone-Rod Dystrophy 15 22
1306 ERY043 Euryblepharon 22
1307 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 22
1308 c CNR024 Cone-Rod Dystrophy 13 21
1309 c CRN147 Corneal Dystrophy, Fuchs Endothelial, 6 21
1310 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21
1311 c MNS008 Monosomy 21 21
1312 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 21
1313 c TRC073 Treacher Collins Syndrome 2 21
1314 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 21
1315 c RTN195 Retinitis Pigmentosa 79 21
1316 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 21
1317 c ATP003 Atp6v0a2-Related Cutis Laxa 21
1318 c PRX066 Peroxisome Biogenesis Disorder 3b 21
1319 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
1320 P IDP049 Idiopathic Anterior Uveitis 21
1321 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
1322 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 21
1323 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
1324 EXT029 Extraocular Retinoblastoma 21
1325 c RTN065 Retinitis Pigmentosa 36 21
1326 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 21
1327 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 21
1328 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1329 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 21
1330 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 21
1331 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 21
1332 OCL070 Oculopalatocerebral Syndrome 21
1333 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21
1334 c LKD027 Leukodystrophy, Hypomyelinating, 14 21
1335 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 21
1336 CRT069 Cortical Malformations, Occipital 21
1337 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 21
1338 c CNR030 Cone-Rod Dystrophy 20 21
1339 CNR033 Cone-Rod Synaptic Disorder, Congenital Nonprogressive 21
1340 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
1341 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 21
1342 c SPS037 Spastic Paraplegia 31 21
1343 BTH002 Bothnia Retinal Dystrophy 21
1344 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
1345 TCT002 Tactile Agnosia 21
1346 SPS087 Spasmus Nutans 21
1347 HRR005 Harrod Syndrome 21
1348 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 21
1349 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
1350 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
1351 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 21
1352 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 21
1353 DPK001 Deep Keratitis 21
1354 c LKD029 Leukodystrophy, Hypomyelinating, 16 21
1355 c ACT037 Acute Dacryocystitis 21
1356 P NNP011 Nanophthalmos 2 20
1357 ALT004 Alternating Esotropia 20
1358 ORB010 Orbital Granuloma 20
1359 DCR002 Dacryocystocele 20
1360 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 20
1361 c RTN130 Retinitis Pigmentosa 46 20
1362 c RTN192 Retinitis Pigmentosa 77 20
1363 ISL084 Isolated Trigonocephaly 20
1364 c CTR182 Cataract 23, Multiple Types 20
1365 c STC012 Stickler Syndrome, Type Iv 20
1366 c RTN181 Retinitis Pigmentosa 2, X-Linked 20
1367 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 20
1368 SWN003 Sweeney-Cox Syndrome 20
1369 GRM003 German Syndrome 20
1370 SCL011 Sclerosing Keratitis 20
1371 ACC002 Accommodative Spasm 20
1372 CRN007 Corneal Staphyloma 20
1373 ORB019 Orbital Margin, Hypoplasia of 20
1374 EYD001 Eye Degenerative Disease 20
1375 P PRX064 Peroxisome Biogenesis Disorder 2b 20
1376 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 20
1377 c SPS041 Spastic Paraplegia 6 20
1378 NTH002 Nathalie Syndrome 20
1379 c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 20
1380 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 20
1381 SLR002 Solar Retinopathy 20
1382 c MCR350 Microphthalmia, Isolated, with Coloboma 5 20
1383 MCR220 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 20
1384 c GLC054 Glaucoma 3, Primary Congenital, D 20
1385 c CTR176 Cataract, Age-Related Nuclear 20
1386 c CTR136 Cataract 41 20
1387 c MCK036 Meckel Syndrome, Type 9 20
1388 c LPR023 Leprosy 1 20
1389 c PRX089 Peroxisome Biogenesis Disorder 10b 20
1390 RTN216 Retinitis Pigmentosa 82 with or Without Situs Inversus 20
1391 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 20
1392 OCL057 Oculotrichodysplasia 20
1393 c STC011 Stickler Syndrome, Type V 19
1394 c PRX068 Peroxisome Biogenesis Disorder 7b 19
1395 CRN126 Corneal Dystrophy, Lisch Epithelial 19
1396 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 19
1397 c SPS023 Spastic Paraplegia 13 19
1398 SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 19
1399 c EXD007 Exudative Vitreoretinopathy 3 19
1400 GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 19
1401 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 19
1402 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 19
1403 c ART060 Arthrogryposis, Distal, Type 1b 19
1404 c MCR214 Microphthalmia, Isolated, with Coloboma 9 19
1405 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 19
1406 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 19
1407 c MCR210 Microphthalmia, Isolated, with Coloboma 7 19
1408 c RTN196 Retinitis Pigmentosa 78 19
1409 CMB076 Combined Oxidative Phosphorylation Deficiency 31 19
1410 P MCR349 Microphthalmia, Isolated, with Coloboma 3 19
1411 PPL023 Pupil Disease 19
1412 ITR001 Iatrogenic Botulism 19
1413 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 19
1414 PHL001 Phlyctenulosis 19
1415 c HYP573 Hypotrichosis 5 19
1416 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 19
1417 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 19
1418 c RTN180 Retinitis Pigmentosa 74 19
1419 ARG003 Argyll Robertson Pupil 19
1420 MCR307 Microspherophakia-Metaphyseal Dysplasia 19
1421 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 19
1422 c MCK020 Meckel Syndrome, Type 11 19
1423 c SPS028 Spastic Paraplegia 18 19
1424 CRN023 Corneal Deposit 19
1425 c ACQ050 Acquired Schizencephaly 19
1426 c SPS042 Spastic Paraplegia 9 18
1427 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 18
1428 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 18
1429 DST044 Distal Trisomy 14q 18
1430 PHK010 Phakomatosis Spilorosea 18
1431 NWF001 Newfoundland Rod-Cone Dystrophy 18
1432 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 18
1433 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 18
1434 FCL013 Focal Chorioretinitis 18
1435 c SPR049 Supranuclear Palsy, Progressive, 2 18
1436 c DNR004 Duane Retraction Syndrome 2 18
1437 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 18
1438 c ANT067 Anterior Segment Dysgenesis 8 18
1439 c ANT087 Anterior Segment Dysgenesis 6 18
1440 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 18
1441 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 18
1442 c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 18
1443 SNL001 Senile Entropion 18
1444 VTR002 Vitreous Syneresis 18
1445 c WRD026 Waardenburg Syndrome, Type 2c 18
1446 MCR317 Macrophthalmia, Colobomatous, with Microcornea 18
1447 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 18
1448 c SPS034 Spastic Paraplegia 26 18
1449 INT313 Intellectual Developmental Disorder with Cardiac Arrhythmia 18
1450 c CRN280 Cornea Plana 2, Autosomal Recessive 18
1451 c CHR059 Chronic Endophthalmitis 18
1452 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 18
1453 c TRN062 Transient Neonatal Myasthenia Gravis 18
1454 IDP006 Idiopathic Corneal Edema 18
1455 DST036 Distal Trisomy 15q 18
1456 MNT308 Mental Retardation with Optic Atrophy, Deafness, and Seizures 18
1457 c RTN214 Retinitis Pigmentosa 81 18
1458 c SPS032 Spastic Paraplegia 24 18
1459 RTN170 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 18
1460 c CNR029 Cone-Rod Dystrophy 19 18
1461 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 18
1462 c MCR271 Microphthalmia, Isolated, with Coloboma 10 18
1463 OPH014 Ophthalmomandibulomelic Dysplasia 18
1464 RTN185 Retinal Dysplasia, Primary 17
1465 c NNP012 Nanophthalmos 4 17
1466 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
1467 ABN001 Abnormal Retinal Correspondence 17
1468 EPB002 Epiblepharon 17
1469 c SX2003 Six2-Related Frontonasal Dysplasia 17
1470 c HYP528 Hypotrichosis 11 17
1471 SCL008 Scleromalacia Perforans 17
1472 CTR107 Cataract 13 with Adult I Phenotype 17
1473 c NYS012 Nystagmus 5, Congenital, X-Linked 17
1474 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 17
1475 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 17
1476 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 17
1477 CCT003 Cicatricial Entropion 17
1478 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 17
1479 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
1480 c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 17
1481 c NNP017 Nanophthalmos 1 17
1482 c GLC089 Glaucoma 3, Primary Congenital, E 17
1483 c SPS029 Spastic Paraplegia 19 17
1484 MYP060 Myopic Macular Degeneration 17
1485 AQS001 Aqueous Misdirection 17
1486 PLS001 Pulsating Exophthalmos 17
1487 c SPS033 Spastic Paraplegia 25 17
1488 c SPS035 Spastic Paraplegia 29 17
1489 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 17
1490 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 17
1491 c SRC024 Sarcoidosis 3 17
1492 PHC002 Phacogenic Glaucoma 17
1493 BLT023 Bilateral Acute Depigmentation of the Iris 17
1494 c RTN217 Retinitis Pigmentosa 83 17
1495 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 17
1496 MNF001 Monofixation Syndrome 17
1497 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 17
1498 c NYS013 Nystagmus 6, Congenital, X-Linked 16
1499 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
1500 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 16
1501 PHC015 Phacoanaphylactic Uveitis 16
1502 BLN008 Blind Hypotensive Eye 16
1503 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 16
1504 P MCL035 Macular Dystrophy, Retinal, 2 16
1505 ESS005 Essential Iris Atrophy 16
1506 HRD017 Hordeolum Externum 16
1507 c SPS026 Spastic Paraplegia 16 16
1508 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 16
1509 c SPS080 Spastic Paraplegia 51 16
1510 c SPS161 Spastic Paraplegia 32 16
1511 NSL017 Nasolacrimal Duct Cyst 16
1512 c ART054 Arthrogryposis, Distal, Type 2e 16
1513 c MCL039 Macular Degeneration, Age-Related, 8 16
1514 P ACT077 Acute Orbital Inflammation 16
1515 c MCR335 Microphthalmia, Isolated, with Coloboma 4 16
1516 c CRN279 Cornea Plana 1, Autosomal Dominant 16
1517 c KRT052 Keratoconus 6 16
1518 CNJ002 Conjunctival Folliculosis 16
1519 CLM004 Climatic Droplet Keratopathy 16
1520 c HRD188 Hereditary Spastic Paraplegia 72 16
1521 c STC007 Stickler Syndrome, Type 3 16
1522 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 16
1523 c RTN218 Retinitis Pigmentosa 84 16
1524 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 16
1525 EXP003 Exophthalmic Ophthalmoplegia 16
1526 NCL001 Nuclear Senile Cataract 16
1527 c SPS022 Spastic Paraplegia 12 16
1528 c LTB003 Ltbp4-Related Cutis Laxa 16
1529 PDT010 Pediatric Intraocular Retinoblastoma 16
1530 AST004 Astereognosia 16
1531 c TYS005 Tay-Sachs Disease, B1 Variant 16
1532 PDT013 Pediatric Extraocular Retinoblastoma 16
1533 HYD049 Hydrocephalus with Cerebellar Agenesis 16
1534 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 15
1535 NND003 Non-Distal Trisomy 10q 15
1536 c MCR338 Microphthalmia, Isolated, with Coloboma 1 15
1537 c HYP551 Hypotrichosis 9 15
1538 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 15
1539 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 15
1540 c SPS024 Spastic Paraplegia 14 15
1541 RTC011 Reticular Dystrophy of Retinal Pigment Epithelium 15
1542 c CRN218 Corneal Dystrophy, Fuchs Endothelial, 8 15
1543 ORB003 Orbital Tenonitis 15
1544 c SPS038 Spastic Paraplegia 39 15
1545 VCL007 Vocal Cord Paralysis and Ptosis 15
1546 P GLC100 Glaucoma 1, Open Angle, D 15
1547 c GLC099 Glaucoma 1, Primary Open Angle, C 15
1548 c HYP544 Hypotrichosis 10 15
1549 c KRT075 Keratoconus 9 15
1550 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 15
1551 PRS110 Persistent Placoid Maculopathy 15
1552 DST082 Distal Trisomy 10q 15
1553 c KRT053 Keratoconus 7 15
1554 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 15
1555 c RTN208 Retinopathy, Pericentral Pigmentary, Autosomal Recessive 15
1556 c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 15
1557 INH013 Inhalational Botulism 15
1558 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 15
1559 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 15
1560 P RTN200 Retinopathy, Pericentral Pigmentary, Dominant 14
1561 IGG009 Igg4-Related Ophthalmic Disease 14
1562 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 14
1563 PRL006 Paralytic Lagophthalmos 14
1564 c MCL026 Macular Dystrophy, Retinal, 3 14
1565 EPT023 Epithelial and Subepithelial Dystrophy 14
1566 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 14
1567 ANR041 Aniridia-Intellectual Disability Syndrome 14
1568 DSS005 Dissociated Nystagmus 14
1569 c EFM001 Efemp2-Related Cutis Laxa 14
1570 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
1571 ACR078 Acral Self-Healing Collodion Baby 14
1572 c LPR017 Leprosy 5 14
1573 c KRT050 Keratoconus 5 14
1574 EPT024 Epithelial-Stromal Tgfbi Dystrophy 14
1575 c FRM005 Frmd7-Related Infantile Nystagmus 14
1576 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
1577 MYC004 Mycotic Corneal Ulcer 14
1578 P JVN036 Juvenile Sialidosis Type 2 14
1579 CYC003 Cyclotropia 14
1580 NND004 Non-Distal Monosomy 10q 14
1581 c MCR346 Microphthalmia, Isolated, with Coloboma 2 14
1582 GNR029 Generalized Galactose Epimerase Deficiency 14
1583 c PSD023 Pseudo-Gaucher Disease 14
1584 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1585 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 14
1586 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 14
1587 CNT088 Central Cloudy Dystrophy of Francois 14
1588 c GLC052 Glaucoma 3, Primary Congenital, C 14
1589 c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 14
1590 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 13
1591 c GLC101 Glaucoma 1, Open Angle, B 13
1592 c ATS413 Autosomal Recessive Anterior Segment Dysgenesis 13
1593 CLF040 Cleft Lip-Retinopathy Syndrome 13
1594 EYC003 Eye Accommodation Disease 13
1595 P MTC014 Mitochondrial Dna Deletion Syndromes 13
1596 c GLC060 Glaucoma 1, Open Angle, G 13
1597 ORB018 Orbital Leiomyoma 13
1598 c LPR016 Leprosy 4 13
1599 c KRT041 Keratoconus 4 13
1600 c INF152 Infectious Posterior Uveitis 13
1601 TXN001 Toxin-Mediated Infectious Botulism 13
1602 ANG003 Angelucci's Syndrome 13
1603 c GLC051 Glaucoma 1, Open Angle, M 13
1604 c SCL053 Sclerocornea, Autosomal Dominant 13
1605 c GLC104 Glaucoma 1, Open Angle, O 13
1606 c LPR020 Leprosy 6 13
1607 c KRT039 Keratoconus 2 13
1608 c KRT054 Keratoconus 8 13
1609 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 13
1610 P IDP065 Idiopathic Macular Telangiectasia Type 1 13
1611 CNG335 Congenital Ectropion Uveae 13
1612 ERL036 Early-Onset Posterior Subcapsular Cataract 12
1613 c KRT040 Keratoconus 3 12
1614 ETH013 Euthyroid Graves Orbitopathy 12
1615 c SPS040 Spastic Paraplegia 5b 12
1616 c ACT030 Acute Dacryoadenitis 12
1617 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 12
1618 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 12
1619 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 12
1620 c SPS230 Spastic Paraplegia Type 49 12
1621 c GLC103 Glaucoma 1, Open Angle, K 12
1622 PRD026 Pre-Descemet Corneal Dystrophy 12
1623 HST002 Histoplasmosis Retinitis 12
1624 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 12
1625 ISL131 Isolated Foveal Hypoplasia 12
1626 PRP103 Peripapillary Staphyloma 12
1627 BRD008 Borderline Glaucoma 12
1628 c HYP832 Hypotrichosis 14 12
1629 CRN002 Corneal Argyrosis 12
1630 c ACQ002 Acquired Night Blindness 12
1631 THY013 Thyrotoxic Exophthalmos 12
1632 ISL128 Isolated Microspherophakia 12
1633 NDL008 Nodular Episcleritis 12
1634 APP006 Apperceptive Agnosia 11
1635 P ACT070 Acute Inflammation of Lacrimal Passage 11
1636 CNG400 Congenital Hereditary Endothelial Dystrophy Type I 11
1637 c GLC076 Glaucoma 1, Open Angle, H 11
1638 c SPS165 Spastic Paraplegia 47 11
1639 P ACT026 Acute Canaliculitis 11
1640 INT026 Intermittent Proptosis 11
1641 c HLL012 Hallermann-Streiff-Like Syndrome 11
1642 PSD006 Pseudopterygium 11
1643 c NNP008 Nanophthalmos 3 11
1644 INT176 Intraocular Medulloepithelioma 11
1645 CNG357 Congenital Symblepharon 11
1646 P GLC102 Glaucoma 1, Open Angle, J 11
1647 MCH001 Mechanical Ectropion 11
1648 PRG116 Progressive Supranuclear Palsy-Corticobasal Syndrome 11
1649 HMN007 Hemangioma of Orbit 11
1650 c CHR035 Chronic Dacryoadenitis 10
1651 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 10
1652 TRN010 Transient Retinal Arterial Occlusion 10
1653 OPH003 Ophthalmia Nodosa 10
1654 c SPR048 Supranuclear Palsy, Progressive, 3 10
1655 TRR003 Terrien Marginal Degeneration 10
1656 c SPS214 Spastic Ataxia 4 10
1657 c SPS171 Spastic Ataxia 5 10
1658 CNT011 Contact Blepharoconjunctivitis 10
1659 c GLL046 Galloway-Mowat Syndrome 7 10
1660 ACT168 Acute Annular Outer Retinopathy 10
1661 HYP062 Hypopyon Ulcer 10
1662 c GLL047 Galloway-Mowat Syndrome 8 10
1663 c GLL045 Galloway-Mowat Syndrome 6 10
1664 PRT027 Partial Arterial Retinal Occlusion 10
1665 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1666 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1667 ERY041 Erythrocyte Galactose Epimerase Deficiency 9
1668 c CNG433 Congenital Cornea Plana 9
1669 c SPS162 Spastic Ataxia 1 9
1670 c SPS163 Spastic Ataxia 3 9
1671 STP001 Staphyloma Posticum 9
1672 EQT001 Equatorial Staphyloma 9
1673 INF115 Infectious Epithelial Keratitis 9
1674 c CHR061 Chronic Canaliculitis 9
1675 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 9
1676 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 9
1677 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 9
1678 ULC003 Ulcerative Blepharitis 9
1679 c NYS019 Nystagmus, Congenital, Autosomal Recessive 9
1680 c GLC080 Glaucoma 1, Open Angle, N 9
1681 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1682 GNC009 Gonococcal Seminal Vesiculitis 9
1683 c LTN017 Late-Infantile/juvenile Krabbe Disease 9
1684 c ADL071 Adult Krabbe Disease 9
1685 ORB005 Orbital Periostitis 9
1686 CCT004 Cicatricial Lagophthalmos 9
1687 MRG002 Marginal Corneal Ulcer 9
1688 c CNT026 Central Corneal Ulcer 9
1689 c ERL039 Early-Onset Anterior Polar Cataract 9
1690 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 9
1691 DST090 Distal Trisomy 2p 9
1692 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 9
1693 3Q2004 3q26 Microduplication Syndrome 9
1694 c FBL003 Fbln5-Related Cutis Laxa 8
1695 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
1696 c SPS170 Spastic Ataxia 2 8
1697 CMP057 Complete Cryptophthalmia 8
1698 INV017 Inverse Marcus-Gunn Phenomenon 8
1699 c SDR001 Siderosis of Eye 8
1700 STR016 Steroid-Induced Glaucoma - Borderline 8
1701 c IDP048 Idiopathic Posterior Uveitis 8
1702 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 8
1703 IDP047 Idiopathic Panuveitis 8
1704 MRN008 Marin-Amat Syndrome 8
1705 INT008 Intermittent Squint 8
1706 c ALP056 Alpha-Mannosidosis, Adult Form 8
1707 NDL004 Nodular Degeneration of Cornea 8
1708 BLL005 Bullous Retinoschisis 8
1709 c ALP055 Alpha-Mannosidosis, Infantile Form 8
1710 P TTL001 Total Internal Ophthalmoplegia 8
1711 BRW005 Brawny Scleritis 8
1712 TTN002 Tetanic Cataract 8
1713 ABN004 Abnormal Pupillary Function 8
1714 PLZ007 Pelizaeus-Merzbacher Disease, Classic Form 8
1715 PRG115 Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome 8
1716 TRN011 Transient Refractive Change 8
1717 PHK009 Phakomatosis Cesiomarmorata 8
1718 OKH001 Okihiro Syndrome Due to a Point Mutation 8
1719 MLT117 Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 8
1720 c SPS229 Spastic Ataxia 8 8
1721 c SPS172 Spastic Ataxia 7 8
1722 c GLC032 Glaucoma, Hereditary 8
1723 LNS002 Lens-Induced Iridocyclitis 8
1724 c CNG348 Congenital Sialidosis Type 2 7
1725 P RBN007 Rubinstein Taybi Like Syndrome 7
1726 CNJ011 Conjunctival Deposit 7
1727 c GLL043 Galloway-Mowat Syndrome 2 7
1728 c IDP066 Idiopathic Macular Telangiectasia Type 3 7
1729 FND005 Fundus Pulverulentus 7
1730 TRS020 Tarsal Kink Syndrome 7
1731 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 7
1732 PRG117 Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome 7
1733 c INF151 Infectious Panuveitis 7
1734 LXT001 Luxation of Globe 7
1735 ACQ003 Acquired Tear Duct Stenosis 7
1736 P ANT012 Anterior Dislocation of Lens 7
1737 STB001 Stable Condition Keratoconus 7
1738 c PST025 Posterior Dislocation of Lens 7
1739 CNJ008 Conjunctival Concretion 7
1740 c PST012 Posterior Corneal Pigmentation 7
1741 ANG010 Angular Blepharoconjunctivitis 7
1742 IDP043 Idiopathic Uveal Effusion Syndrome 7
1743 PLZ008 Pelizaeus-Merzbacher Disease, Transitional Form 7
1744 P SMN001 Seminal Vesicle Acute Gonorrhea 7
1745 SPS001 Spastic Ectropion 7
1746 c SMN004 Seminal Vesicle Chronic Gonorrhea 7
1747 CRT003 Cortical Senile Cataract 7
1748 STN002 Stenosis of Lacrimal Punctum 7
1749 SQM003 Squamous Blepharitis 6
1750 PHL004 Phlegmonous Dacryocystitis 6
1751 SCL005 Scleroperikeratitis 6
1752 P ANT008 Anterior Corneal Pigmentation 6
1753 HYP023 Hypersecretion Glaucoma 6
1754 RNG002 Ring Corneal Ulcer 6
1755 DBL001 Double Pterygium 6
1756 VTR004 Vitreous Abscess 6
1757 CNT008 Contact Lens Corneal Edema 6
1758 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
1759 c CHR088 Chronic Inflammation of Lacrimal Passage 6
1760 MCH004 Mechanical Entropion 6
1761 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
1762 c SCN004 Secondary Vitreoretinal Degeneration 6
1763 RTN189 Retinal Capillary Malformation 6
1764 DSS001 Disseminated Chorioretinitis 6
1765 PLZ009 Pelizaeus-Merzbacher Disease in Female Carriers 6
1766 ACT005 Acute Hydrops Keratoconus 6
1767 MNC005 Monocular Exotropia 6
1768 c MCR283 Microcephaly and Chorioretinopathy 2 6
1769 STN003 Stenosis of Lacrimal Passage 6
1770 c MCR282 Microcephaly and Chorioretinopathy 1 6
1771 c MCR284 Microcephaly and Chorioretinopathy 3 6
1772 MYT001 Myotonic Cataract 5
1773 GNC007 Gonococcal Keratitis 5
1774 LCL001 Localized Anterior Staphyloma 5
1775 RSD001 Residual Stage Angle-Closure Glaucoma 5
1776 ABN003 Abnormal Threshold of Rods 5
1777 MCL004 Macular Keratitis 5
1778 EPS002 Episcleritis Periodica Fugax 5
1779 c SCN003 Secondary Corneal Edema 5
1780 PRM009 Primary Eye Hypotony 5
1781 BWM001 Bowman's Membrane Folds or Rupture 5
1782 LCR003 Lacrimal Passage Granuloma 5
1783 RSD002 Residual Stage of Open Angle Glaucoma 5
1784 PRP014 Peripheral Degeneration of Cornea 5
1785 LTR005 Lateral Displacement of Eye 5
1786 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 5
1787 P PRM007 Primary Lacrimal Atrophy 5
1788 DMR001 De Morsier's Syndrome Information 5
1789 CNT022 Central Gyrate Choroidal Dystrophy 5
1790 SPP006 Suppurative Uveitis 5
1791 TTL003 Total Circumpapillary Dystrophy of Choroid 5
1792 GRY003 Grayson-Wilbrandt Corneal Dystrophy 5
1793 PRG012 Progressive Peripheral Pterygium 5
1794 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 5
1795 PRP012 Peripheral Focal Chorioretinitis 5
1796 RTN009 Retinal Dystrophies Primarily Involving Bruch's Membrane 5
1797 ERL027 Early-Onset Non-Syndromic Cataract 5
1798 ERL042 Early-Onset Partial Cataract 5
1799 ISL065 Isolated Congenital Alacrima 5
1800 STN001 Stenosis of Lacrimal Sac 5
1801 ISL071 Isolated Congenital Ectropion 5
1802 PRT091 Partial Cryptophthalmia 5
1803 c OCL037 Oculodentodigital Dysplasia Dominant 5
1804 EVR001 Eversion of Lacrimal Punctum 4
1805 MCH005 Mechanical Lagophthalmos 4
1806 c EPP002 Epiphora Due to Excess Lacrimation 4
1807 c GLC029 Glaucoma Type 1c 4
1808 c GLC033 Glaucoma, Hereditary Adult Type 1a 4
1809 RNG001 Ring Staphyloma 4
1810 CNS003 Constant Exophthalmos 4
1811 c GLC035 Glaucoma, Primary Infantile Type 3a 4
1812 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 4
1813 DFF008 Diffuse Secondary Choroid Atrophy 4
1814 SMP002 Simple Chronic Conjunctivitis 4
1815 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 4
1816 GNC004 Gonococcal Iridocyclitis 4
1817 c SCN002 Secondary Lacrimal Atrophy 4
1818 P EPP001 Epiphora Due to Insufficient Drainage 4
1819 CNT006 Central Pterygium 4
1820 IDP050 Idiopathic Linear Interstitial Keratitis 4
1821 THY120 Thygeson Superficial Punctate Keratopathy 4
1822 GNC008 Gonococcal Endophthalmia 4
1823 PHL002 Philophthalmiasis 4
1824 DYS010 Dystrophies Primarily Involving the Retinal Pigment Epithelium 4
1825 PRS026 Parasitic Conjunctivitis 4
1826 FLT003 Flat Retinoschisis 4
1827 RSC002 Rosacea Conjunctivitis 4
1828 PHT005 Phthisical Cornea 4
1829 BLN007 Blind Hypertensive Eye 4
1830 PRT016 Partial Circumpapillary Choroid Dystrophy 4
1831 SNL006 Senile Atrophy of Choroid 4
1832 RSD003 Residual Stage Corticosteroid-Induced Glaucoma 4
1833 c FML317 Familial Monosomy 7 Syndrome 4
1834 ANG008 Angioid Streaks of Choroid 4
1835 ISL127 Isolated Blepharochalasis 4
1836 INT284 Intellectual Disability-Cataracts-Kyphosis Syndrome 4
1837 ATS361 Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome 4
1838 ISL126 Isolated Iridoschisis 4
1839 RTN007 Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses 4
1840 ISL130 Isolated Congenital Entropion 4
1841 ANT015 Anatomical Narrow Angle Borderline Glaucoma 4
1842 ISL132 Isolated Megalopapilla 4
1843 c FRG004 Fragile X Syndrome Type 1 4
1844 c FRG005 Fragile X Syndrome Type 2 4
1845 c FRG006 Fragile X Syndrome Type 3 4
1846 P CHR168 Chorioretinopathy Dominant Form Microcephaly 3
1847 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 3
1848 c MCR048 Microcephaly Chorioretinopathy Recessive Form 3
1849 PRN060 Paraneoplastic Uveitis 3
1850 P LGB001 Leg Absence Deformity Cataract 3
1851 PPL048 Papillorenal Syndrome 50
1852 P LBR001 Leber Congenital Amaurosis 64
1853 c MCL042 Macular Degeneration, Age-Related, 1 84
1854 OPT008 Optic Nerve Neoplasm 37
1855 c CNR004 Cone-Rod Dystrophy 2 63
1856 P USH001 Usher Syndrome 59
1857 BLC001 Blue Cone Monochromacy 45
1858 KRN002 Kearns-Sayre Syndrome 63
1859 RTN015 Retinal Cancer 52
1860 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 41
1861 P NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 31
1862 c HRD138 Hereditary Motor and Sensory Neuropathy V 31
1863 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
1864 OCL031 Oculo-Cerebral Dysplasia 13
1865 BRK005 Berk-Tabatznik Syndrome 9
1866 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 6
1867 CHR081 Choroideremia 55
1868 ECZ002 Eczema Herpeticum 49
1869 CLB010 Coloboma of Macula 55
1870 BRD025 Birdshot Chorioretinopathy 49
1871 c WRB002 Warburg Micro Syndrome 1 43
1872 DYN002 Doyne Honeycomb Retinal Dystrophy 39
1873 OPT007 Optic Nerve Glioma 45
1874 CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 23
1875 MCR013 Microphthalmia 61
1876 c ALB021 Albinism, Oculocutaneous, Type Ii 53
1877 PPL021 Papilledema 49
1878 SRS007 Sorsby Fundus Dystrophy 48
1879 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 46
1880 c USH038 Usher Syndrome, Type Iiia 43
1881 CRN106 Corneal Dystrophy, Gelatinous Drop-Like 38
1882 RTN011 Retina Lymphoma 27
1883 ACT201 Acute Posterior Multifocal Placoid Pigment Epitheliopathy 24
1884 c OPT025 Optic Atrophy 6 22
1885 RTN123 Retinochoroidal Coloboma 20
1886 MLN018 Moloney Syndrome 18
1887 OCL009 Ocular Cancer 61
1888 c ALB009 Albinism, Oculocutaneous, Type Ia 54
1889 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 49
1890 c ALB010 Albinism, Oculocutaneous, Type Ib 45
1891 P PNT019 Pontocerebellar Hypoplasia 43
1892 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
1893 c PNT036 Pontocerebellar Hypoplasia, Type 6 42
1894 KLV001 Kluver-Bucy Syndrome 41
1895 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
1896 c ACH020 Achromatopsia 2 40
1897 c PNT010 Pontocerebellar Hypoplasia Type 1 39
1898 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
1899 c MCL060 Macular Dystrophy, Vitelliform, 3 38
1900 VTR010 Vitreoretinochoroidopathy 36
1901 c PNT045 Pontocerebellar Hypoplasia, Type 1a 34
1902 c PNT043 Pontocerebellar Hypoplasia, Type 4 32
1903 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
1904 c PNT044 Pontocerebellar Hypoplasia, Type 2a 32
1905 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
1906 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
1907 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
1908 c RTN035 Retinal Cone Dystrophy 3b 28
1909 c RTN036 Retinal Cone Dystrophy 4 28
1910 MNT006 Manitoba Oculotrichoanal Syndrome 27
1911 c PNT039 Pontocerebellar Hypoplasia, Type 7 26
1912 XLN012 X-Linked Congenital Stationary Night Blindness 26
1913 c PNT051 Pontocerebellar Hypoplasia, Type 1d 25
1914 c PNT050 Pontocerebellar Hypoplasia, Type 11 25
1915 c PNT047 Pontocerebellar Hypoplasia, Type 2b 25
1916 c PNT048 Pontocerebellar Hypoplasia, Type 2c 25
1917 c RTN032 Retinal Cone Dystrophy 1 24
1918 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1919 ULR001 Ulerythema Ophryogenesis 16
1920 c PNT052 Pontocerebellar Hypoplasia, Type 12 14
1921 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
1922 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 8
1923 P STR022 Stargardt Disease 58
1924 KNS001 Kniest Dysplasia 53
1925 P KRT007 Keratoconus 50
1926 MCL075 Macular Dystrophy, Corneal 49
1927 OCL011 Ocular Motility Disease 46
1928 3MC003 3mc Syndrome 43
1929 CRN237 Corneal Dystrophy, Avellino Type 37
1930 MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 36
1931 P CNR031 Cone-Rod Dystrophy, X-Linked, 1 32
1932 SPN348 Spondylometaphyseal Dysplasia, Axial 31
1933 c CNR039 Cone-Rod Dystrophy, X-Linked, 2 30
1934 c CNR038 Cone-Rod Dystrophy, X-Linked, 3 29
1935 WGN003 Wagner Syndrome 27
1936 IRD003 Iridocorneal Endothelial Syndrome 27
1937 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 25
1938 OCL016 Ocular Albinism, X-Linked 24
1939 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 24
1940 WBB001 Webb-Dattani Syndrome 22
1941 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 15
1942 ANP019 Anophthalmos with Limb Anomalies 14
1943 LPS006 Lopes Gorlin Syndrome 6
1944 c MCL062 Mucolipidosis Ii Alpha/beta 65
1945 P FCS002 Fucosidosis 60
1946 P INT030 Intracranial Aneurysm 60
1947 c MCL013 Mucolipidosis Iv 59
1948 c MCL046 Mucolipidosis Iii Alpha/beta 56
1949 RRR001 Rere-Related Disorders 55
1950 CTS003 Coats Disease 54
1951 RTN020 Retinal Vascular Disease 54
1952 INT303 Intracranial Hypertension, Idiopathic 53
1953 FDB001 Foodborne Botulism 53
1954 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 49
1955 FCH001 Fuchs' Endothelial Dystrophy 49
1956 PRS012 Pars Planitis 49
1957 P MCL001 Mucolipidosis 46
1958 P KLF001 Kleefstra Syndrome 46
1959 LGN005 Ligneous Conjunctivitis 44
1960