Eye Diseases Category (3148 diseases)


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

# Family MCID Name MIFTS
1 GYR004 Gyrate Atrophy of Choroid and Retina 50
2 c OPT053 Optic Atrophy 1 55
3 c OPT068 Optic Atrophy 3, Autosomal Dominant 35
4 LBR002 Leber Hereditary Optic Neuropathy 58
5 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 62
6 c 3MT015 3-Methylglutaconic Aciduria, Type I 48
7 c 3MT014 3-Methylglutaconic Aciduria, Type V 46
8 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
9 P 3MT007 3-Methylglutaconic Aciduria 33
10 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 30
11 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 23
12 LBR031 Leber Optic Atrophy and Dystonia 45
13 OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 31
14 NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 56
15 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 27
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 27
21 c FVL008 Foveal Hypoplasia 2 24
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 48
25 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 47
26 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 40
27 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 39
28 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
29 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 27
30 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 26
31 OPT001 Optic Disk Drusen 40
32 EYL005 Eyelid Disease 40
33 c MCR124 Microphthalmia, Isolated 1 37
34 P MCR122 Microphthalmia, Isolated 5 33
35 c MCR137 Microphthalmia, Isolated 2 25
36 c MCR114 Microphthalmia, Isolated 3 23
37 c MCR109 Microphthalmia, Isolated 4 23
38 c MCR219 Microphthalmia, Isolated 8 22
39 c MCR108 Microphthalmia, Isolated 7 18
40 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 24
41 P LBR001 Leber Congenital Amaurosis 65
42 LBR030 Leber Optic Atrophy 41
43 SCH038 Schopf-Schulz-Passarge Syndrome 36
44 BHR001 Behr Syndrome 40
45 TRC055 Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina 15
46 c MCL042 Macular Degeneration, Age-Related, 1 83
47 P CLB034 Coloboma, Ocular, Autosomal Dominant 46
48 c BLP048 Blepharospasm, Benign Essential 39
49 P PHS005 Peho Syndrome 37
50 c MCL043 Macular Degeneration, Age-Related, 2 29
51 SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 29
52 c MCL078 Macular Degeneration, Age-Related, 14 28
53 c MCL038 Macular Degeneration, Age-Related, 4 23
54 c MCL030 Macular Degeneration, Age-Related, 10 22
55 c MCL051 Macular Degeneration, Age-Related, 12 21
56 P MCL058 Macular Degeneration, Early-Onset 20
57 c MCL077 Macular Degeneration, Age-Related, 5 20
58 c MCL041 Macular Degeneration, Age-Related, 7 19
59 c MCL036 Macular Degeneration, Age-Related, 6 18
60 c MCL044 Macular Degeneration, Age-Related, 9 18
61 c MCL032 Macular Degeneration, Age-Related, 11 16
62 c OPT071 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 16
63 c MCL065 Macular Degeneration, Age-Related, 15 15
64 P AGN002 Agnosia 61
65 P OPT009 Optic Neuritis 55
66 BSC005 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 33
67 SPS061 Spastic Paraplegia, Optic Atrophy, and Neuropathy 32
68 CRB159 Cerebral Visual Impairment 29
69 c OPT064 Optic Atrophy 11 24
70 c FRM002 Form Agnosia 16
71 P NRM001 Neuromyelitis Optica 64
72 RTN209 Retinoschisis 1, X-Linked, Juvenile 57
73 c NRM008 Neuromyelitis Optica Spectrum Disorder 34
74 EYL006 Eyelid Benign Neoplasm 29
75 c OPT024 Optic Atrophy 5 24
76 ICH066 Ichthyosis--Cheek--Eyebrow Syndrome 18
77 OPT005 Optic Nerve Astrocytoma 11
78 P RTN008 Retinitis Pigmentosa 80
79 c CNR004 Cone-Rod Dystrophy 2 63
80 RTN017 Retinal Detachment 61
81 P USH001 Usher Syndrome 58
82 BTT001 Bietti Crystalline Corneoretinal Dystrophy 48
83 c USH035 Usher Syndrome Type 2 46
84 BLC001 Blue Cone Monochromacy 46
85 c USH021 Usher Syndrome, Type Iid 46
86 TRT020 Tritanopia 45
87 c CNR023 Cone-Rod Dystrophy 8 38
88 c CNR003 Cone-Rod Dystrophy 1 37
89 c USH041 Usher Syndrome, Type if 37
90 c USH042 Usher Syndrome, Type Ig 36
91 c RTN051 Retinitis Pigmentosa 22 34
92 c NNS043 Nonsyndromic Retinitis Pigmentosa 33
93 c RTN068 Retinitis Pigmentosa 6 31
94 c RTN057 Retinitis Pigmentosa 29 30
95 c USH031 Usher Syndrome, Type Ij 30
96 c USH030 Usher Syndrome, Type Ik 29
97 c RTN053 Retinitis Pigmentosa 24 27
98 c RTN148 Retinitis Pigmentosa 63 21
99 c RTN206 Retinitis Pigmentosa, Late-Adult Onset 21
100 c CNR027 Cone-Rod Dystrophy 17 21
101 c USH045 Usher Syndrome, Type Iv 20
102 c USH043 Usher Syndrome, Type Ih 20
103 c RTN061 Retinitis Pigmentosa 32 19
104 c RTN063 Retinitis Pigmentosa 34 19
105 c RTN219 Retinitis Pigmentosa 85 17
106 c USH011 Usher Syndrome, Type 2b 13
107 KRN002 Kearns-Sayre Syndrome 63
108 CHS002 Chiasmal Syndrome 36
109 ADT008 Auditory Neuropathy and Optic Atrophy 22
110 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 22
111 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 19
112 FLC002 Fleck Retina, Familial Benign 19
113 OCL031 Oculo-Cerebral Dysplasia 13
114 BRK005 Berk-Tabatznik Syndrome 9
115 P ANR048 Aniridia 1 64
116 RTN018 Retinal Disease 58
117 P RTN016 Retinal Degeneration 56
118 CHR081 Choroideremia 54
119 P CLR019 Color Blindness 49
120 ISC002 Ischemic Optic Neuropathy 48
121 c LTN004 Late-Onset Retinal Degeneration 46
122 VSL003 Visual Agnosia 40
123 ALN001 Aland Island Eye Disease 40
124 VSL002 Visual Epilepsy 37
125 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 28
126 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 24
127 c OPT065 Optic Atrophy 9 24
128 VSL004 Visual Cortex Disease 23
129 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 19
130 CHL024 Childhood Optic Nerve Glioma 19
131 VSL012 Visual Snow Syndrome 16
132 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 14
133 HYP742 Hyperpigmentation of Eyelids 12
134 SHR049 Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome 11
135 VNS001 Venous Tributary Occlusion of Retina 8
136 BLT005 Bilateral Meningioma of Optic Nerve 8
137 CHL023 Childhood Optic Tract Astrocytoma 7
138 c PX6002 Pax6-Related Aniridia 6
139 P ENC018 Encephalopathy 65
140 P WLF004 Wolfram Syndrome 60
141 c WLF013 Wolfram Syndrome 1 55
142 CLB010 Coloboma of Macula 54
143 BRD025 Birdshot Chorioretinopathy 48
144 c WRB002 Warburg Micro Syndrome 1 44
145 SCT002 Scotoma 41
146 TRC077 Trichomegaly 40
147 DYN002 Doyne Honeycomb Retinal Dystrophy 39
148 P SPS008 Spastic Ataxia 37
149 c WRB003 Warburg Micro Syndrome 2 36
150 P HRD022 Hordeolum 35
151 P WRB001 Warburg Micro Syndrome 32
152 OPT002 Optic Nerve Sheath Meningioma 32
153 CVT001 Cavitary Optic Disc Anomalies 30
154 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 30
155 OPT032 Optic Pathway Glioma 29
156 c SPS212 Spastic Ataxia 5, Autosomal Recessive 28
157 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
158 c SPS208 Spastic Ataxia 4, Autosomal Recessive 26
159 c SPS142 Spastic Ataxia 2, Autosomal Recessive 25
160 c SPS136 Spastic Ataxia 3, Autosomal Recessive 24
161 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 22
162 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
163 SPL058 Splenomegaly, Cytopenia, and Vision Loss 15
164 c INT047 Internal Hordeolum 14
165 c SPS171 Spastic Ataxia 5 11
166 c SPS214 Spastic Ataxia 4 11
167 c SPS162 Spastic Ataxia 1 10
168 c SPS163 Spastic Ataxia 3 10
169 c SPS170 Spastic Ataxia 2 9
170 c SPS229 Spastic Ataxia 8 8
171 c SPS172 Spastic Ataxia 7 8
172 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 7
173 P MYP006 Myopia 59
174 AST006 Astigmatism 50
175 c MYP127 Myopia 2, Autosomal Dominant 22
176 c MYP138 Myopia 3, Autosomal Dominant 21
177 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy 21
178 c MYP140 Myopia 17, Autosomal Dominant 20
179 c MYP141 Myopia 5, Autosomal Dominant 19
180 c MYP144 Myopia 12, Autosomal Dominant 18
181 c MYP146 Myopia 15, Autosomal Dominant 18
182 VSL013 Visual Impairment and Progressive Phthisis Bulbi 17
183 c MYP044 Myopia 10 17
184 c MYP133 Myopia 18, Autosomal Recessive 17
185 c MYP147 Myopia 19, Autosomal Dominant 16
186 c MYP041 Myopia 8 15
187 c MYP040 Myopia 7 15
188 c MYP048 Myopia 9 15
189 c MYP145 Myopia 16, Autosomal Dominant 15
190 c MYP143 Myopia 11, Autosomal Dominant 15
191 c MYP069 Myopia 14 14
192 BNC002 Binocular Vision Disease 13
193 c MYP084 Myopia 20, Autosomal Dominant 12
194 ALL005 Allergic Contact Dermatitis of Eyelid 8
195 MCR013 Microphthalmia 60
196 P CTR002 Cataract 59
197 SRS007 Sorsby Fundus Dystrophy 49
198 PPL021 Papilledema 48
199 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 46
200 c USH038 Usher Syndrome, Type Iiia 44
201 P VTL001 Vitelliform Macular Dystrophy 43
202 c CTR130 Cataract 9, Multiple Types 41
203 OPT010 Optic Papillitis 39
204 INT323 Intraocular Pressure Quantitative Trait Locus 38
205 CRN106 Corneal Dystrophy, Gelatinous Drop-Like 38
206 c CTR103 Cataract 4, Multiple Types 37
207 c CTR170 Cataract 30, Multiple Types 36
208 c CTR115 Cataract 16, Multiple Types 35
209 c CTR141 Cataract 21, Multiple Types 35
210 c CTR122 Cataract 5, Multiple Types 35
211 OCC002 Occult Macular Dystrophy 34
212 EYL002 Eyelid Carcinoma 34
213 c CTR125 Cataract 7 33
214 FST001 Foster-Kennedy Syndrome 33
215 c CTR145 Cataract 44 33
216 c CTR102 Cataract 2, Multiple Types 33
217 c CTR132 Cataract 3, Multiple Types 32
218 P ATM076 Autoimmune Retinopathy 32
219 c CTR158 Cataract 37 31
220 c CTR129 Cataract 31, Multiple Types 30
221 c CTR095 Cataract 8, Multiple Types 30
222 c CTR113 Cataract 11, Multiple Types 28
223 c CTR175 Cataract 24 27
224 c CTR169 Cataract 29 25
225 c CTR166 Cataract 33, Multiple Types 25
226 c CTR116 Cataract 15, Multiple Types 25
227 c CTR131 Cataract 17, Multiple Types 24
228 c CTR181 Cataract 18 24
229 c CTR162 Cataract 47 24
230 VSL005 Visual Pathway Disease 23
231 ACT201 Acute Posterior Multifocal Placoid Pigment Epitheliopathy 23
232 c CTR180 Cataract 22, Multiple Types 23
233 c CTR165 Cataract 19, Multiple Types 23
234 c CTR119 Cataract 32, Multiple Types 23
235 c CTR105 Cataract 12, Multiple Types 23
236 CMB069 Combined Hamartoma of the Retina and Retinal Pigment Epithelium 22
237 c CTR184 Cataract 39, Multiple Types 22
238 SHR097 Short Tarsus with Absence of Lower Eyelashes 21
239 c OPT025 Optic Atrophy 6 21
240 c CTR097 Cataract 34, Multiple Types 21
241 c CTR111 Cataract 36 21
242 c CTR183 Cataract 38 20
243 c CTR159 Cataract 35 20
244 c CTR185 Cataract 30 20
245 c CTR106 Cataract 20, Multiple Types 19
246 c CTR163 Cataract 46, Juvenile-Onset 19
247 c CTR121 Cataract 25 19
248 RTN123 Retinochoroidal Coloboma 19
249 c CTR110 Cataract 26, Multiple Types 19
250 c CTR144 Cataract 43 18
251 c CTR139 Cataract 42 18
252 c CTR157 Cataract 28 18
253 c CTR160 Cataract 45 18
254 c CTR178 Cataract 27 17
255 BLN017 Balint Syndrome 17
256 MLN018 Moloney Syndrome 17
257 c CTR025 Cataract, Total Congenital 17
258 c OPT059 Optic Atrophy 4 16
259 c CTR187 Cataract 48 16
260 c ACQ001 Acquired Color Blindness 15
261 c CTR128 Cataract 33 14
262 FLC004 Fleck Retina of Kandori 12
263 CHR675 Chronic Relapsing Inflammatory Optic Neuropathy 12
264 MLG010 Malignant Eyelid Melanoma 11
265 CNG395 Congenital Retinal Arteriovenous Communication 11
266 GLC005 Glaucomatous Atrophy of Optic Disc 9
267 ATS326 Autosomal Recessive Isolated Optic Atrophy 9
268 ATM073 Autoimmune-Related Retinopathy and Optic Neuropathy 9
269 NNN006 Noninfectious Dermatoses of Eyelid 8
270 c CTR008 Cataract Congenital Autosomal Dominant 8
271 ANT020 Anterior Optic Tract Meningioma 8
272 c NDP001 Ndp-Related Retinopathies 6
273 PRS018 Parasitic Eyelid Infestation 6
274 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 6
275 CRT010 Crater-Like Holes of Optic Disc 6
276 CLB012 Coloboma of Optic Papilla 3
277 FND001 Fundus Albipunctatus 57
278 P ACH003 Achromatopsia 57
279 c ALB009 Albinism, Oculocutaneous, Type Ia 54
280 c ALB021 Albinism, Oculocutaneous, Type Ii 53
281 c ALB020 Albinism, Oculocutaneous, Type Iii 51
282 OCL052 Ocular Dominance 48
283 c ALB010 Albinism, Oculocutaneous, Type Ib 47
284 c LBR004 Leber Congenital Amaurosis 1 46
285 c ALB015 Albinism, Oculocutaneous, Type V 46
286 KLV001 Kluver-Bucy Syndrome 44
287 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
288 P PNT019 Pontocerebellar Hypoplasia 43
289 c PNT049 Pontocerebellar Hypoplasia, Type 2d 42
290 c ACH020 Achromatopsia 2 41
291 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
292 c PNT010 Pontocerebellar Hypoplasia Type 1 40
293 c PNT037 Pontocerebellar Hypoplasia, Type 3 40
294 c PNT018 Pontocerebellar Hypoplasia, Type 1b 39
295 c MCL060 Macular Dystrophy, Vitelliform, 3 38
296 c LBR012 Leber Congenital Amaurosis 2 38
297 P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 37
298 VTR010 Vitreoretinochoroidopathy 35
299 c PNT045 Pontocerebellar Hypoplasia, Type 1a 35
300 ART110 Arteritic Anterior Ischemic Optic Neuropathy 35
301 P BST001 Bestrophinopathy 34
302 c PNT043 Pontocerebellar Hypoplasia, Type 4 33
303 c BST008 Bestrophinopathy, Autosomal Recessive 33
304 c PNT044 Pontocerebellar Hypoplasia, Type 2a 33
305 3MC001 3mc Syndrome 2 32
306 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
307 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
308 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
309 c RTN036 Retinal Cone Dystrophy 4 29
310 c RTN032 Retinal Cone Dystrophy 1 28
311 c PNT039 Pontocerebellar Hypoplasia, Type 7 28
312 c RTN035 Retinal Cone Dystrophy 3b 28
313 MNT006 Manitoba Oculotrichoanal Syndrome 27
314 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
315 c PNT050 Pontocerebellar Hypoplasia, Type 11 26
316 c CND012 Cone Dystrophy 4 26
317 c PNT051 Pontocerebellar Hypoplasia, Type 1d 26
318 XLN012 X-Linked Congenital Stationary Night Blindness 25
319 c PNT048 Pontocerebellar Hypoplasia, Type 2c 23
320 c CRN242 Corneal Dystrophy, Fuchs Endothelial, 2 23
321 c PNT042 Pontocerebellar Hypoplasia, Type 2f 23
322 HRL006 Harel-Yoon Syndrome 22
323 CMB047 Combined Oxidative Phosphorylation Deficiency 18 21
324 c OPT060 Optic Atrophy 8 21
325 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 21
326 c PNT052 Pontocerebellar Hypoplasia, Type 12 21
327 c CRN121 Corneal Dystrophy, Fuchs Endothelial, 5 18
328 c CRN122 Corneal Dystrophy, Fuchs Endothelial, 7 17
329 NTR002 Nutritional Optic Neuropathy 17
330 ULR001 Ulerythema Ophryogenesis 14
331 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 12
332 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 7
333 P STR022 Stargardt Disease 58
334 c GLC092 Glaucoma, Primary Open Angle 57
335 OCL006 Ocular Hypertension 56
336 P PTS002 Ptosis 55
337 c STR084 Stargardt Disease 1 54
338 P KRT007 Keratoconus 50
339 GLC098 Glaucoma-Related Pigment Dispersion Syndrome 50
340 MCL075 Macular Dystrophy, Corneal 49
341 RFR003 Refractive Error 46
342 P OCL001 Ocular Albinism 45
343 c RTN150 Retinitis Pigmentosa 10 45
344 OCL011 Ocular Motility Disease 45
345 P CND005 Cone Dystrophy 45
346 ECT005 Ectropion 45
347 c NGH026 Night Blindness, Congenital Stationary, Type 1a 43
348 c LBR019 Leber Congenital Amaurosis 9 42
349 3MC003 3mc Syndrome 40
350 c KNB006 Knobloch Syndrome 1 39
351 CRN237 Corneal Dystrophy, Avellino Type 39
352 DST033 Distichiasis 37
353 c CNG513 Congenital Ptosis 37
354 MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 36
355 c CNR014 Cone-Rod Dystrophy 16 35
356 P CNR031 Cone-Rod Dystrophy, X-Linked, 1 33
357 c GLC041 Glaucoma 1, Open Angle, a 33
358 c MCR211 Microphthalmia, Isolated 6 33
359 c NGH007 Night Blindness, Congenital Stationary, Type 1b 32
360 PSD008 Pseudopapilledema 31
361 SPN348 Spondylometaphyseal Dysplasia, Axial 31
362 c CNR038 Cone-Rod Dystrophy, X-Linked, 3 31
363 c ANR047 Aniridia 2 31
364 c LBR016 Leber Congenital Amaurosis 6 31
365 c LBR018 Leber Congenital Amaurosis 8 31
366 c NGH025 Night Blindness, Congenital Stationary, Type 2a 31
367 c NGH029 Night Blindness, Congenital Stationary, Type 1e 29
368 c MCL059 Macular Dystrophy, Patterned, 1 29
369 P KNB001 Knobloch Syndrome 29
370 c CNR039 Cone-Rod Dystrophy, X-Linked, 2 28
371 c RTN140 Retinitis Pigmentosa 67 28
372 c MCL070 Macular Dystrophy, Patterned, 3 28
373 AMT001 Ametropic Amblyopia 28
374 WGN003 Wagner Syndrome 27
375 IRD003 Iridocorneal Endothelial Syndrome 27
376 c LBR008 Leber Congenital Amaurosis 13 27
377 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 26
378 WGN007 Wagner Vitreoretinopathy 26
379 c PHL010 Peho-Like Syndrome 26
380 c KRT029 Keratoconus 1 25
381 c NGH027 Night Blindness, Congenital Stationary, Type 1c 24
382 c OGC001 Oguchi Disease 1 24
383 OCL016 Ocular Albinism, X-Linked 24
384 c NGH030 Night Blindness, Congenital Stationary, Type 1f 23
385 c RTN166 Retinitis Pigmentosa 69 23
386 c MCL071 Macular Dystrophy, Patterned, 2 22
387 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 21
388 c NGH022 Night Blindness, Congenital Stationary, Type 1g 21
389 P PTT054 Patterned Macular Dystrophy 21
390 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 20
391 c MCL056 Macular Dystrophy, Vitelliform, 5 20
392 c PTS010 Ptosis, Hereditary Congenital 2 19
393 c STR054 Stargardt Disease 4 19
394 c MCL061 Macular Dystrophy, Vitelliform, 4 19
395 c OGC002 Oguchi Disease 2 18
396 c GLC079 Glaucoma 1, Open Angle, P 17
397 c PTS018 Ptosis, Hereditary Congenital 1 16
398 ANP019 Anophthalmos with Limb Anomalies 16
399 c KRT052 Keratoconus 6 15
400 JVN026 Jeavons Syndrome 15
401 GRP007 Grouped Pigmentation of the Retina 15
402 c KRT050 Keratoconus 5 14
403 c KRT053 Keratoconus 7 14
404 c GLC048 Glaucoma 1, Open Angle, I 14
405 c KRT039 Keratoconus 2 13
406 c KRT040 Keratoconus 3 13
407 c KRT054 Keratoconus 8 13
408 c KRT041 Keratoconus 4 13
409 HYP046 Hypopigmentation of Eyelid 9
410 LPS006 Lopes Gorlin Syndrome 7
411 P CNJ013 Conjunctivitis 65
412 c MCL062 Mucolipidosis Ii Alpha/beta 64
413 VTR013 Vitreoretinopathy, Neovascular Inflammatory 61
414 P FCS002 Fucosidosis 59
415 c MCL013 Mucolipidosis Iv 58
416 c MCL046 Mucolipidosis Iii Alpha/beta 56
417 CTS003 Coats Disease 54
418 FDB001 Foodborne Botulism 53
419 INT303 Intracranial Hypertension, Idiopathic 52
420 c RTN162 Retinitis Pigmentosa 2 51
421 P PNV001 Panuveitis 51
422 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 49
423 FCH001 Fuchs' Endothelial Dystrophy 49
424 AMB002 Amblyopia 49
425 PRS012 Pars Planitis 48
426 c FRS014 Fraser Syndrome 1 48
427 KHN001 Kuhnt-Junius Degeneration 48
428 ALB002 Albinism 48
429 c CHR095 Chronic Progressive External Ophthalmoplegia 47
430 P DNR001 Duane Retraction Syndrome 46
431 P MCL001 Mucolipidosis 45
432 SCH076 Schnyder Corneal Dystrophy 44
433 CRN286 Corneal Dystrophy, Meesmann 43
434 c RTN058 Retinitis Pigmentosa 3 43
435 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 43
436 P BLP003 Blepharospasm 43
437 CRN241 Corneal Dystrophy, Congenital Stromal 43
438 c MCL016 Mucolipidosis Iii Gamma 42
439 c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 42
440 P KLF001 Kleefstra Syndrome 42
441 JLL001 Jalili Syndrome 40
442 c DNR003 Duane Retraction Syndrome 1 40
443 c RTN069 Retinitis Pigmentosa 7 40
444 c CHR086 Chronic Conjunctivitis 39
445 LGN005 Ligneous Conjunctivitis 39
446 c ATM100 Autoimmune Optic Neuritis 39
447 PRR004 Preretinal Fibrosis 39
448 c RTN041 Retinitis Pigmentosa 11 39
449 P OGC005 Oguchi Disease 39
450 BST007 Best Vitelliform Macular Dystrophy 38
451 c WLF009 Wolfram Syndrome 2 35
452 c LBR005 Leber Congenital Amaurosis 10 34
453 ISL119 Isolated Optic Neuritis 34
454 c CRN236 Corneal Dystrophy, Lattice Type I 33
455 c KLF004 Kleefstra Syndrome 1 33
456 c ACH023 Achromatopsia 4 32
457 DGN003 Degeneration of Macula and Posterior Pole 32
458 c RTN070 Retinitis Pigmentosa 9 32
459 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 32
460 BCH003 Boucher-Neuhauser Syndrome 31
461 P LTT001 Lattice Corneal Dystrophy 31
462 MCL079 Macular Telangiectasia Type 2 31
463 c BCT006 Bacterial Conjunctivitis 30
464 c LBR015 Leber Congenital Amaurosis 5 30
465 PRP026 Peripheral Retinal Degeneration 29
466 c ACT067 Acute Conjunctivitis 28
467 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 28
468 SML010 Simultanagnosia 28
469 P RTN034 Retinal Cone Dystrophy 3a 28
470 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 28
471 3MC002 3mc Syndrome 1 27
472 c USH044 Usher Syndrome, Type Iiib 26
473 CHR158 Charles Bonnet Syndrome 26
474 c EXD004 Exudative Vitreoretinopathy 4 26
475 c FBR050 Fibrosis of Extraocular Muscles, Congenital, 2 25
476 P FVL006 Foveal Hypoplasia 1 25
477 TXC008 Toxic Optic Neuropathy 25
478 MYP086 Myopathy with Extrapyramidal Signs 24
479 c NGH028 Night Blindness, Congenital Stationary, Type 1d 23
480 c RTN217 Retinitis Pigmentosa 83 23
481 c LTT008 Lattice Corneal Dystrophy Type Ii 23
482 c ACH038 Achromatopsia 7 23
483 c EXD010 Exudative Vitreoretinopathy 6 22
484 MCL057 Macular Dystrophy with Central Cone Involvement 22
485 c CLB022 Coloboma, Ocular, Autosomal Recessive 22
486 c MYP018 Myopia 6 22
487 c EXD006 Exudative Vitreoretinopathy 5 22
488 c MCL073 Macular Dystrophy, Vitelliform, 1 22
489 c MCL052 Macular Degeneration, Age-Related, 13 22
490 P PRM016 Primary Optic Atrophy 22
491 c NGH024 Night Blindness, Congenital Stationary, Type 1h 21
492 c EXD012 Exudative Vitreoretinopathy 7 20
493 c LBR006 Leber Congenital Amaurosis 11 20
494 c CRN306 Corneal Dystrophy, Posterior Polymorphous, 4 20
495 c KLF005 Kleefstra Syndrome 2 20
496 c FRS016 Fraser Syndrome 2 19
497 c MYP074 Myopia 23, Autosomal Recessive 19
498 CLB018 Coloboma of Eyelid 19
499 c LBR017 Leber Congenital Amaurosis 7 19
500 c FRS015 Fraser Syndrome 3 19
501 P TXC009 Toxic Maculopathy 19
502 SPN033 Spontaneous Ocular Nystagmus 19
503 c MYP070 Myopia 21, Autosomal Dominant 18
504 APR010 Apraxia of Eyelid Opening 18
505 OPT077 Optic Disc Pit 17
506 c FBR078 Fibrosis of Extraocular Muscles, Congenital, 5 17
507 c MYP090 Myopia 24, Autosomal Dominant 16
508 c MYP075 Myopia 22, Autosomal Dominant 16
509 INT334 Intellectual Developmental Disorder and Retinitis Pigmentosa 16
510 c MYP117 Myopia 25, Autosomal Dominant 15
511 WLF014 Wolfram Syndrome, Mitochondrial Form 15
512 P FBR081 Fibrosis of Extraocular Muscles, Congenital, 3c 15
513 VSP001 Vasoproliferative Tumor of the Retina 15
514 MYP135 Myopia 26, X-Linked, Female-Limited 14
515 c KLF002 Kleefstra Syndrome Due to a Point Mutation 14
516 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 14
517 PSD005 Pseudoretinitis Pigmentosa 14
518 SPT020 Spatial Visualization, Aptitude for 13
519 P FRS017 Fraser-Like Syndrome 13
520 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 12
521 BLS004 Blessig's Cysts 11
522 CHL133 Cholestasis with Gallstone, Ataxia, and Visual Disturbance 11
523 NRP050 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 10
524 OPT072 Opticocochleodentate Degeneration 10
525 P OPT029 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 10
526 TNT001 Tented Eyebrows 10
527 VSL001 Visual Verbal Agnosia 10
528 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 10
529 c FCS008 Fucosidosis Type 1 10
530 FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 9
531 OPT067 Optic Atrophy with Demyelinating Disease of Cns 9
532 OPT069 Optic Atrophy with Negative Electroretinograms 9
533 OPT073 Optic Atrophy--Spastic Paraplegia Syndrome 9
534 ALZ038 Alezzandrini Syndrome 9
535 HLR003 Hole Retinal Cyst 9
536 LTT009 Lattice Degeneration of Retina Leading to Retinal Detachment 9
537 RTN005 Retinal Lattice Degeneration 9
538 IDP087 Idiopathic Optic Perineuritis 9
539 MYL068 Myelinated Optic Nerve Fibers 9
540 PRT024 Partial Optic Atrophy 8
541 CBB001 Cobblestone Retinal Degeneration 8
542 P TTL001 Total Internal Ophthalmoplegia 8
543 ALG004 Al Gazali Khidr Prem Chandran Syndrome 8
544 PGN001 Pagon Stephan Syndrome 7
545 TRS032 Tristichiasis 7
546 CYS012 Cystoid Macular Retinal Degeneration 7
547 c INF151 Infectious Panuveitis 7
548 SNL002 Senile Reticular Retinal Degeneration 7
549 CNG355 Congenital Eyelid Retraction 7
550 XRD002 Xeroderma of Eyelid 7
551 ECZ001 Eczematous Dermatitis of Eyelid 7
552 EYB006 Eyebrow, Whorl in 6
553 CLB023 Coloboma of Inferior Eyelid 6
554 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 6
555 PRP004 Peripheral Scars of Retina 6
556 CLB024 Coloboma of Superior Eyelid 6
557 c TXC018 Toxic Maculopathy Due to Antimalarial Drugs 6
558 EYL004 Eyelid Degenerative Disease 6
559 DSC002 Discoid Lupus Erythematosus of Eyelid 5
560 HYP044 Hypotrichosis of Eyelid 5
561 HYP045 Hypertrichosis of Eyelid 5
562 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
563 SPS224 Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal 5
564 SLN003 Silengo Lerone Pelizza Syndrome 5
565 RTN076 Retinopathy, Arteriosclerotic 4
566 ECC013 Eccrine Syringofibroadenomatosis with Eyelid Abnormalities 4
567 VSL006 Visual Pathway and Hypothalamic Glioma, Childhood 3
568 P ATX030 Ataxia-Telangiectasia 82
569 PFF001 Pfeiffer Syndrome 80
570 P NNN008 Noonan Syndrome 1 78
571 P SRC025 Sarcoidosis 1 76
572 P NRF023 Neurofibromatosis, Type Ii 75
573 MRF001 Marfan Syndrome 75
574 BHC003 Behcet Syndrome 74
575 P MYS003 Myasthenia Gravis 73
576 VNH007 Von Hippel-Lindau Syndrome 72
577 P TRN020 Turner Syndrome 71
578 FBR012 Fabry Disease 71
579 P ALG028 Alagille Syndrome 1 70
580 P SPR120 Supranuclear Palsy, Progressive, 1 70
581 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 69
582 APR006 Apert Syndrome 69
583 P TYS001 Tay-Sachs Disease 69
584 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 69
585 P FRG001 Fragile X Syndrome 69
586 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 68
587 SMT004 Smith-Lemli-Opitz Syndrome 68
588 P PSD087 Pseudoxanthoma Elasticum 68
589 P KRB001 Krabbe Disease 67
590 P DYS007 Dyskeratosis Congenita 67
591 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
592 c FML346 Familial Adenomatous Polyposis 1 67
593 LWC002 Lowe Oculocerebrorenal Syndrome 66
594 c MCP050 Mucopolysaccharidosis, Type Ii 66
595 P GCH001 Gaucher's Disease 66
596 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 66
597 P KBK002 Kabuki Syndrome 1 66
598 INC021 Incontinentia Pigmenti 66
599 c NNN010 Noonan Syndrome 3 65
600 P CCK001 Cockayne Syndrome 65
601 c GCH015 Gaucher Disease, Type I 65
602 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65
603 NRR002 Norrie Disease 64
604 CRB011 Cerebrotendinous Xanthomatosis 64
605 c CNG411 Congenital Disorder of Glycosylation, Type in 64
606 c MCP049 Mucopolysaccharidosis, Type Vii 64
607 P LPR021 Leprosy 3 63
608 WLL001 Williams-Beuren Syndrome 63
609 P CRN015 Cornelia De Lange Syndrome 63
610 P TRC072 Treacher Collins Syndrome 1 63
611 c MNN047 Mannosidosis, Alpha B, Lysosomal 63
612 KRT001 Keratoconjunctivitis Sicca 62
613 P MCK013 Meckel Syndrome, Type 1 62
614 P RBL001 Rubella 62
615 P UVT001 Uveitis 62
616 RFS006 Refsum Disease, Classic 62
617 P NMN002 Niemann-Pick Disease 61
618 c GCH016 Gaucher Disease, Type Ii 61
619 KLP010 Klippel-Trenaunay-Weber Syndrome 61
620 P HRD008 Hereditary Hemorrhagic Telangiectasia 60
621 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
622 OCL020 Ocular Cicatricial Pemphigoid 60
623 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 60
624 P DST002 Distal Arthrogryposis 60
625 VGT001 Vogt-Koyanagi-Harada Disease 59
626 PTR032 Peters-Plus Syndrome 59
627 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 59
628 c GLC097 Glaucoma 3, Primary Congenital, a 59
629 P OCL013 Oculodentodigital Dysplasia 58
630 P PRM002 Primary Hyperoxaluria 58
631 c MYT020 Myotonic Dystrophy 2 58
632 c NMN016 Niemann-Pick Disease, Type B 58
633 c PRX045 Peroxisome Biogenesis Disorder 1b 58
634 STR039 Sturge-Weber Syndrome 58
635 c GCH017 Gaucher Disease, Type Iii 58
636 P AXN002 Axenfeld-Rieger Syndrome 57
637 EXF001 Exfoliation Syndrome 57
638 P ICH004 Ichthyosis 57
639 P SLV001 Silver-Russell Syndrome 57
640 c CRN139 Cornelia De Lange Syndrome 1 57
641 LCR014 Lacrimoauriculodentodigital Syndrome 57
642 P LYS001 Loeys-Dietz Syndrome 57
643 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
644 OST024 Osteoporosis-Pseudoglioma Syndrome 56
645 CHN055 Chanarin-Dorfman Syndrome 56
646 P STC001 Stickler Syndrome 56
647 STR020 Strabismus 56
648 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
649 P HLL001 Hallermann-Streiff Syndrome 55
650 VRN004 Vernal Keratoconjunctivitis 55
651 c NNN012 Noonan Syndrome 5 55
652 P CRN108 Cranioectodermal Dysplasia 1 55
653 HRL003 Hurler Syndrome 55
654 KRT006 Keratoconjunctivitis 55
655 LPR001 Lepromatous Leprosy 54
656 P END047 Endophthalmitis 54
657 c ANT034 Anterior Uveitis 54
658 c LBR014 Leber Congenital Amaurosis 4 54
659 MLT135 Multiple Sulfatase Deficiency 54
660 c INT064 Intermediate Uveitis 53
661 ABL002 Ablepharon-Macrostomia Syndrome 53
662 c NNN009 Noonan Syndrome 2 53
663 P CNG010 Congenital Stationary Night Blindness 53
664 CCT002 Cicatricial Pemphigoid 53
665 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
666 EXP004 Exophthalmos 53
667 MCL006 Macular Retinal Edema 53
668 c ART144 Arthrogryposis, Distal, Type 1a 53
669 RTN003 Retinal Ischemia 53
670 CYT005 Cytomegalovirus Retinitis 53
671 ENH001 Enhanced S-Cone Syndrome 53
672 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 53
673 P OPN001 Open-Angle Glaucoma 53
674 DRY001 Dry Eye Syndrome 53
675 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 53
676 TRC008 Trachoma 52
677 c OST163 Osteopetrosis, Autosomal Recessive 3 52
678 c WRD033 Waardenburg Syndrome, Type 2e 52
679 c ART120 Arthrogryposis, Distal, Type 3 52
680 c PST005 Posterior Uveitis 52
681 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
682 P MYT002 Myotonic Dystrophy 52
683 GLC012 Galactosialidosis 52
684 P PSD015 Pseudohypoparathyroidism 51
685 CCH002 Coach Syndrome 51
686 KRT002 Keratomalacia 51
687 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 51
688 c BRD012 Bardet-Biedl Syndrome 11 51
689 c AXN009 Axenfeld-Rieger Syndrome, Type 1 51
690 c SPN293 Spinocerebellar Ataxia 12 51
691 FND002 Fundus Dystrophy 51
692 ACT011 Acute Contagious Conjunctivitis 51
693 NNT017 Neonatal Adrenoleukodystrophy 51
694 c ATM099 Autoimmune Uveitis 51
695 CRN027 Corneal Neovascularization 51
696 c PRX059 Peroxisome Biogenesis Disorder 1a 50
697 GLC004 Galactokinase Deficiency 50
698 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
699 P WLL002 Weill-Marchesani Syndrome 50
700 PTH003 Pathologic Nystagmus 50
701 P NGH001 Night Blindness 50
702 FSH001 Fish-Eye Disease 50
703 c CCK007 Cockayne Syndrome B 50
704 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
705 P HYP087 Hypotrichosis 50
706 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
707 P RTN014 Retinal Artery Occlusion 50
708 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 50
709 CTY001 Cat Eye Syndrome 50
710 STR072 Stromal Keratitis 50
711 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
712 CHR101 Char Syndrome 50
713 P SCL015 Scleritis 49
714 DBT006 Diabetic Macular Edema 49
715 P ERL057 Early Infantile Epileptic Encephalopathy 49
716 PHL006 Phelan-Mcdermid Syndrome 49
717 P NLX004 Neu-Laxova Syndrome 1 49
718 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
719 c AXN010 Axenfeld-Rieger Syndrome, Type 3 49
720 FRB001 Farber Lipogranulomatosis 49
721 c GM2006 Gm2 Gangliosidosis 49
722 c GRS014 Griscelli Syndrome, Type 2 48
723 RVS001 Revesz Syndrome 48
724 c WRD032 Waardenburg Syndrome, Type 2a 48
725 CNJ012 Conjunctival Disease 48
726 c BRD044 Bardet-Biedl Syndrome 17 48
727 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 48
728 NVS001 Neovascular Glaucoma 48
729 KRT008 Keratopathy 48
730 TBR006 Tuberculoid Leprosy 48
731 NNC002 Nance-Horan Syndrome 48
732 ACR058 Acrofacial Dysostosis 1, Nager Type 48
733 c RTN177 Retinitis Pigmentosa 73 48
734 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 48
735 P TYR004 Tyrosinemia 48
736 c SPN312 Spinocerebellar Ataxia 14 48
737 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 48
738 RTN023 Retinitis 48
739 SYM002 Sympathetic Ophthalmia 47
740 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 47
741 MCR165 Microphthalmia with Limb Anomalies 47
742 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
743 c HNT004 Huntington Disease-Like 2 47
744 P CNR007 Cone-Rod Dystrophy 6 47
745 P CRN028 Corneal Ulcer 47
746 c ALB019 Albinism, Oculocutaneous, Type Iv 47
747 c LKD015 Leukodystrophy, Hypomyelinating, 3 47
748 c RTN142 Retinitis Pigmentosa 38 47
749 c BRD032 Bardet-Biedl Syndrome 14 47
750 c OPT051 Opitz Gbbb Syndrome, Type I 47
751 P GNG009 Gangliosidosis 47
752 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 47
753 c ART155 Arthrogryposis, Distal, Type 2b1 47
754 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 46
755 c SPN100 Spinocerebellar Ataxia 27 46
756 MCL003 Macular Holes 46
757 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
758 MYP136 Myopathy, Centronuclear, X-Linked 46
759 c WRD020 Waardenburg Syndrome, Type 4a 46
760 c LKD010 Leukodystrophy, Hypomyelinating, 2 46
761 CRD002 Cri-Du-Chat Syndrome 46
762 P SDR002 Siderosis 46
763 c WRD019 Waardenburg Syndrome, Type 4b 46
764 P CRN276 Corneal Endothelial Dystrophy 46
765 c RTN172 Retinitis Pigmentosa 1 46
766 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 46
767 CHR492 Chromosome 13q14 Deletion Syndrome 45
768 BRN041 Bornholm Eye Disease 45
769 c NNN013 Noonan Syndrome 6 45
770 BLL004 Bullous Keratopathy 45
771 MNL001 Monilethrix 45
772 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 45
773 P MNN018 Mannosidosis 45
774 VTR005 Vitreous Disease 45
775 c BRD020 Bardet-Biedl Syndrome 8 45
776 P MSC022 Mosaic Variegated Aneuploidy Syndrome 45
777 IRD001 Iridocyclitis 45
778 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
779 CRN024 Corneal Disease 45
780 INC003 Inclusion Conjunctivitis 45
781 OCL033 Oculocerebral Syndrome with Hypopigmentation 45
782 c BRD033 Bardet-Biedl Syndrome 13 45
783 TKL001 Tukel Syndrome 45
784 c ACH021 Achromatopsia 3 45
785 c ART061 Arthrogryposis, Distal, Type 2a 45
786 c LKD019 Leukodystrophy, Hypomyelinating, 6 45
787 c OPT050 Opitz Gbbb Syndrome, Type Ii 45
788 c MCL066 Macular Dystrophy, Vitelliform, 2 44
789 c SHR030 Short Qt Syndrome 44
790 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 44
791 UVL010 Uveal Disease 44
792 c WRD031 Waardenburg Syndrome, Type 3 44
793 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 44
794 c HYP507 Hypotrichosis 1 44
795 c BRD011 Bardet-Biedl Syndrome 10 44
796 c MCK032 Meckel Syndrome, Type 3 44
797 c SPN103 Spinocerebellar Ataxia 31 44
798 CHR008 Choroiditis 44
799 ATP013 Atopic Keratoconjunctivitis 44
800 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 44
801 c MCK012 Meckel Syndrome, Type 6 44
802 ANG002 Angiostrongyliasis 44
803 c SPN308 Spinocerebellar Ataxia 28 44
804 c BRD018 Bardet-Biedl Syndrome 6 44
805 BLP005 Blepharitis 44
806 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 44
807 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
808 c JBR024 Joubert Syndrome 14 43
809 c TYR011 Tyrosinemia, Type Iii 43
810 c RTN160 Retinitis Pigmentosa 60 43
811 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
812 TRP014 Triploidy 43
813 P CRN026 Corneal Edema 43
814 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
815 OCL025 Ocular Toxoplasmosis 43
816 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 43
817 EST005 Esotropia 43
818 LCR008 Lacrimal Apparatus Disease 43
819 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
820 CRN025 Corneal Dystrophy 42
821 c NNN011 Noonan Syndrome 4 42
822 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 42
823 c MYS078 Myasthenic Syndrome, Congenital, 14 42
824 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
825 VRN001 Vernal Conjunctivitis 42
826 c BRD048 Bardet-Biedl Syndrome 18 42
827 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
828 c RTN143 Retinitis Pigmentosa 47 42
829 DBT090 Diabetes and Deafness, Maternally Inherited 42
830 c ART146 Arthrogryposis, Distal, Type 9 42
831 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
832 c BRD035 Bardet-Biedl Syndrome 15 42
833 ARC023 Arcus Corneae 42
834 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
835 c RTN043 Retinitis Pigmentosa 13 42
836 c JBR015 Joubert Syndrome 6 42
837 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 42
838 P CHR637 Choroidal Dystrophy, Central Areolar, 1 41
839 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 41
840 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 41
841 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
842 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 41
843 c HYP575 Hypotrichosis 7 41
844 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 41
845 c CNT028 Central Retinal Artery Occlusion 41
846 ACN019 Acanthamoeba Keratitis 41
847 SPN331 Spondyloocular Syndrome 41
848 c ALB016 Albinism, Oculocutaneous, Type Vii 41
849 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
850 MYP139 Myopathy, Proximal, and Ophthalmoplegia 41
851 CHR211 Chromosome 18p Deletion Syndrome 41
852 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
853 c CTR098 Cataract 1, Multiple Types 41
854 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
855 c CHR054 Chronic Closed-Angle Glaucoma 41
856 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 41
857 P MTC010 Mitochondrial Dna Depletion Syndrome 41
858 HYP801 Hyperferritinemia with or Without Cataract 41
859 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
860 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 40
861 MRN002 Mooren's Ulcer 40
862 LWT001 Low Tension Glaucoma 40
863 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
864 c GLC083 Glaucoma 3, Primary Infantile, B 40
865 FNG016 Fungal Keratitis 40
866 c MCR263 Microphthalmia, Syndromic 1 40
867 c MCR261 Microphthalmia, Syndromic 2 40
868 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
869 CHR382 Chromosome 18q Deletion Syndrome 40
870 SNL007 Senile Cataract 40
871 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 40
872 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
873 VTR003 Vitreous Detachment 40
874 PRM024 Primary Angle-Closure Glaucoma 40
875 ORB006 Orbital Cellulitis 40
876 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 40
877 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 40
878 EXT022 Exotropia 40
879 LNS003 Lens Disease 40
880 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 40
881 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 40
882 c GLL038 Galloway-Mowat Syndrome 1 40
883 OCL010 Ocular Hypotension 40
884 GNT006 Giant Papillary Conjunctivitis 40
885 c HYP559 Hypotrichosis 8 40
886 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
887 GLC001 Glaucomatocyclitic Crisis 40
888 CHR078 Chorioretinitis 39
889 c BRD017 Bardet-Biedl Syndrome 5 39
890 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
891 END072 Endotheliitis 39
892 BRB006 Barber-Say Syndrome 39
893 CNJ007 Conjunctivochalasis 39
894 c NNN021 Noonan Syndrome 8 39
895 c MCK033 Meckel Syndrome, Type 4 39
896 HRL004 Hurler-Scheie Syndrome 39
897 c NNN024 Noonan Syndrome 9 39
898 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
899 RCR001 Recurrent Corneal Erosion 39
900 c ANT071 Anterior Segment Dysgenesis 4 39
901 CRN247 Corneal Dystrophy, Thiel-Behnke Type 39
902 c MCK031 Meckel Syndrome, Type 2 39
903 FNT005 Fontaine Progeroid Syndrome 39
904 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 39
905 XFP001 Xfe Progeroid Syndrome 39
906 EXC003 Excessive Tearing 38
907 ORB013 Orbital Disease 38
908 SLF014 Sulfite Oxidase Deficiency, Isolated 38
909 BCK003 Background Diabetic Retinopathy 38
910 BLT001 Bilateral Retinoblastoma 38
911 INT042 Internuclear Ophthalmoplegia 38
912 CHR386 Chromosome 6pter-P24 Deletion Syndrome 38
913 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38
914 c MCP051 Mucopolysaccharidosis, Type Ix 38
915 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 38
916 RBS002 Rubeosis Iridis 38
917 HYP084 Hypopyon 38
918 c RTN090 Retinitis Pigmentosa 55 38
919 c LKD009 Leukodystrophy, Hypomyelinating, 5 38
920 c RTN048 Retinitis Pigmentosa 19 38
921 DBT007 Diabetic Cataract 38
922 HRP025 Herpes Simplex Virus Keratitis 38
923 AST003 Asthenopia 38
924 c DYS119 Dystonia 9 38
925 INT082 Intraocular Retinoblastoma 38
926 SPP007 Suppression Amblyopia 38
927 BRN026 Branch Retinal Artery Occlusion 38
928 PPL019 Papillary Conjunctivitis 38
929 RTN013 Retinal Hemangioblastoma 38
930 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
931 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
932 P JVN042 Juvenile Retinoschisis 38
933 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
934 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 38
935 c WRB005 Warburg Micro Syndrome 4 38
936 P CNG024 Congenital Nystagmus 38
937 c OST126 Osteopetrosis, Autosomal Recessive 1 37
938 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
939 c MNS014 Monosomy 22 37
940 c LKD008 Leukodystrophy, Hypomyelinating, 4 37
941 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
942 c HYP581 Hypotrichosis 6 37
943 c NNN025 Noonan Syndrome 10 37
944 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 37
945 c PRM032 Primary Congenital Glaucoma 37
946 HYP008 Hypertensive Retinopathy 37
947 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
948 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 37
949 c CNR017 Cone-Rod Dystrophy 9 37
950 EPT025 Epithelial Basement Membrane Dystrophy 37
951 P JVN008 Juvenile Glaucoma 37
952 c RTN136 Retinitis Pigmentosa 44 37
953 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 37
954 OCL004 Ocular Hyperemia 37
955 EPC005 Epicanthus 37
956 CRT012 Cortical Blindness 37
957 EPT021 Epithelial Recurrent Erosion Dystrophy 37
958 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 37
959 c MCK014 Meckel Syndrome, Type 5 37
960 MND025 Mandibulofacial Dysostosis with Alopecia 37
961 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 37
962 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
963 PHT008 Photosensitive Epilepsy 37
964 PRL047 Prolonged Electroretinal Response Suppression 37
965 DGN002 Degenerative Myopia 37
966 c RTN044 Retinitis Pigmentosa 14 37
967 MGL003 Megalocornea 37
968 c LBR007 Leber Congenital Amaurosis 12 36
969 c BRD045 Bardet-Biedl Syndrome 19 36
970 CHR079 Choroid Disease 36
971 c RTN149 Retinitis Pigmentosa 42 36
972 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
973 c RTN131 Retinitis Pigmentosa 27 36
974 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 36
975 PRS025 Presbyopia 36
976 c CNR016 Cone-Rod Dystrophy 7 36
977 BLP006 Blepharoconjunctivitis 36
978 LMB008 Limb-Mammary Syndrome 36
979 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
980 PNC059 Punctate Inner Choroidopathy 36
981 c WRD024 Waardenburg Syndrome, Type 4c 36
982 c CTR118 Cataract 14, Multiple Types 36
983 c ART147 Arthrogryposis, Distal, Type 7 36
984 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
985 c LBR011 Leber Congenital Amaurosis 16 36
986 SPR034 Superior Limbic Keratoconjunctivitis 36
987 c CNG379 Congenital Disorder of Glycosylation, Type It 36
988 DSS006 Disuse Amblyopia 36
989 FRS019 Farsightedness 36
990 c PST008 Posterior Scleritis 36
991 SHP001 Shipyard Eye 36
992 BLP001 Blepharochalasis 36
993 c ATS076 Autosomal Recessive Stickler Syndrome 36
994 P DCR003 Dacryoadenitis 36
995 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 36
996 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 36
997 c RTN066 Retinitis Pigmentosa 4 36
998 PNG001 Pinguecula 36
999 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 36
1000 ANG004 Angioid Streaks 36
1001 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 36
1002 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 35
1003 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 35
1004 XRP001 Xerophthalmia 35
1005 LSS001 Loiasis 35
1006 ANG062 Angioosteohypertrophic Syndrome 35
1007 c RTN186 Retinitis Pigmentosa 75 35
1008 MLT035 Multifocal Choroiditis 35
1009 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 35
1010 c BRD047 Bardet-Biedl Syndrome 16 35
1011 c RTN054 Retinitis Pigmentosa 25 35
1012 PHT002 Photokeratitis 35
1013 c NNN020 Noonan Syndrome 7 35
1014 GPS001 Gapo Syndrome 35
1015 c ANT023 Anterior Scleritis 35
1016 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 35
1017 RTN002 Retinal Perforation 35
1018 OPH002 Ophthalmia Neonatorum 35
1019 P SPS012 Spastic Paraplegia 3a 35
1020 IRT001 Iritis 35
1021 c SPN299 Spinocerebellar Ataxia 20 35
1022 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 35
1023 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 35
1024 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
1025 LGH012 Leigh Syndrome with Leukodystrophy 35
1026 PST063 Postsynaptic Congenital Myasthenic Syndromes 35
1027 PRM056 Primrose Syndrome 35
1028 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 35
1029 c JBR025 Joubert Syndrome 17 35
1030 c JBR041 Joubert Syndrome 3 34
1031 c ART119 Arthrogryposis, Distal, Type 5 34
1032 c RTN047 Retinitis Pigmentosa 18 34
1033 c RTN134 Retinitis Pigmentosa 40 34
1034 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34
1035 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
1036 c CNR013 Cone-Rod Dystrophy 12 34
1037 CLR133 Colorblindness, Partial, Protan Series 34
1038 KNZ001 Kanzaki Disease 34
1039 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 34
1040 c SPN247 Spinocerebellar Ataxia Type 19/22 34
1041 c RTN050 Retinitis Pigmentosa 20 34
1042 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
1043 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
1044 CRN141 Corneal Dystrophy, Reis-Bucklers Type 34
1045 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 34
1046 c JVN038 Juvenile Myasthenia Gravis 34
1047 c RTN042 Retinitis Pigmentosa 12 34
1048 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
1049 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 34
1050 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
1051 FLM001 Filamentary Keratitis 34
1052 c RTN165 Retinitis Pigmentosa 68 34
1053 JBR005 Joubert Syndrome with Ocular Anomalies 34
1054 c MTC060 Mitochondrial Dna Depletion Syndrome 9 34
1055 SVR002 Severe Nonproliferative Diabetic Retinopathy 34
1056 SCL013 Scleral Disease 34
1057 FCH002 Fuchs' Heterochromic Uveitis 34
1058 PHR002 Pharyngoconjunctival Fever 34
1059 c MYS011 Myasthenia Gravis Congenital 33
1060 UNL002 Unilateral Retinoblastoma 33
1061 c RTN055 Retinitis Pigmentosa 26 33
1062 c WRD010 Waardenburg Syndrome Type 4 33
1063 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 33
1064 PNC012 Punctate Epithelial Keratoconjunctivitis 33
1065 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
1066 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 33
1067 c ACT047 Acute Endophthalmitis 33
1068 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 33
1069 CRN273 Corneal Dystrophy, Subepithelial Mucinous 33
1070 c ICH023 Ichthyosis, Acquired 33
1071 c SPS039 Spastic Paraplegia 5a 33
1072 BLP004 Blepharophimosis 33
1073 c ORT011 Orthostatic Hypotension 1 33
1074 c CRN109 Cranioectodermal Dysplasia 2 33
1075 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 33
1076 c MCK034 Meckel Syndrome, Type 8 33
1077 c BRD019 Bardet-Biedl Syndrome 7 33
1078 c MCR251 Microphthalmia, Syndromic 6 33
1079 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 33
1080 LCR001 Lacrimal Duct Obstruction 33
1081 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
1082 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 33
1083 HRD016 Hereditary Retinal Dystrophy 33
1084 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 33
1085 c MTC062 Mitochondrial Dna Depletion Syndrome 2 33
1086 c SPN099 Spinocerebellar Ataxia 26 33
1087 HYD007 Hydrophthalmos 33
1088 c PRX055 Peroxisome Biogenesis Disorder 11a 33
1089 FRN020 Frontal Fibrosing Alopecia 33
1090 c SPS036 Spastic Paraplegia 3 33
1091 c CTR096 Cataract 6, Multiple Types 33
1092 c JBR012 Joubert Syndrome 5 32
1093 c RTN067 Retinitis Pigmentosa 41 32
1094 c RTN062 Retinitis Pigmentosa 33 32
1095 c LPR022 Leprosy 2 32
1096 BSL037 Basal Laminar Drusen 32
1097 CRN274 Corneal Dystrophy, Posterior Amorphous 32
1098 c HYP515 Hypotrichosis 3 32
1099 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
1100 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
1101 OLV004 Oliver-Mcfarlane Syndrome 32
1102 c CND011 Cone Dystrophy 3 32
1103 c AXN012 Axenfeld-Rieger Syndrome, Type 2 32
1104 ORB008 Orbital Plasma Cell Granuloma 32
1105 EXP002 Exposure Keratitis 32
1106 END034 Endocrine Exophthalmos 32
1107 P HYP700 Hypomyelinating Leukodystrophy 32
1108 c RBN008 Rubinstein-Taybi Syndrome 2 32
1109 CRN285 Corneal Dystrophy, Fleck 32
1110 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 32
1111 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
1112 STR046 Stargardt Macular Degeneration 32
1113 c WLL036 Weill-Marchesani Syndrome 1 32
1114 c RTN133 Retinitis Pigmentosa 43 32
1115 c MTC088 Mitochondrial Dna Depletion Syndrome 13 32
1116 c JBR022 Joubert Syndrome 20 32
1117 ANS004 Anisometropia 32
1118 c HYP525 Hypotrichosis 2 32
1119 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
1120 c PRX060 Peroxisome Biogenesis Disorder 5a 32
1121 c MTC059 Mitochondrial Dna Depletion Syndrome 5 32
1122 c DYS039 Dyskeratosis Congenita Autosomal Dominant 31
1123 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
1124 c RTN046 Retinitis Pigmentosa 17 31
1125 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
1126 P CRN249 Cornea Plana 31
1127 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 31
1128 c RTN059 Retinitis Pigmentosa 30 31
1129 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
1130 ACT038 Acute Retrobulbar Neuritis 31
1131 SVN002 Sveinsson Chorioretinal Atrophy 31
1132 c SPS091 Spastic Paraplegia 4 31
1133 c RTN064 Retinitis Pigmentosa 35 31
1134 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 31
1135 RDG001 Red-Green Color Blindness 31
1136 c CNG188 Congenital Disorder of Glycosylation, Type if 31
1137 OCL063 Oculopharyngodistal Myopathy 31
1138 c CCK002 Cockayne Syndrome Type I 31
1139 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
1140 c RTN056 Retinitis Pigmentosa 28 31
1141 ISL062 Isolated Plagiocephaly 31
1142 c RTN116 Retinitis Pigmentosa 56 31
1143 TBL025 Tubulointerstitial Nephritis with Uveitis 31
1144 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 31
1145 P ACT028 Acute Closed-Angle Glaucoma 31
1146 c RTN129 Retinitis Pigmentosa 49 31
1147 c ACQ027 Acquired Cutis Laxa 31
1148 CRN288 Corneal Dystrophy, Band-Shaped 31
1149 LRY022 Laryngoonychocutaneous Syndrome 31
1150 SPS002 Spastic Entropion 31
1151 c DYS059 Dystonia 16 31
1152 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 31
1153 c CNR006 Cone-Rod Dystrophy 5 31
1154 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
1155 c RTN152 Retinitis Pigmentosa 66 31
1156 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 31
1157 c RTN169 Retinitis Pigmentosa 70 31
1158 CNJ017 Conjunctival Nevus 31
1159 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
1160 c PLZ002 Pelizaeus-Merzbacher-Like Disease 30
1161 SNL004 Senile Ectropion 30
1162 IRS003 Iris Disease 30
1163 P DSB002 Desbuquois Dysplasia 30
1164 P DCR004 Dacryocystitis 30
1165 c SPS021 Spastic Paraplegia 10 30
1166 c PRX056 Peroxisome Biogenesis Disorder 11b 30
1167 c RTN114 Retinitis Pigmentosa 58 30
1168 ENT005 Entropion 30
1169 ENP001 Enophthalmos 30
1170 c CNR005 Cone-Rod Dystrophy 3 30
1171 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
1172 HYP048 Hypotropia 30
1173 c LBR013 Leber Congenital Amaurosis 3 30
1174 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
1175 BRD005 Borderline Leprosy 30
1176 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 30
1177 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 30
1178 STR019 Steroid-Induced Glaucoma 30
1179 c SPN098 Spinocerebellar Ataxia 25 30
1180 c CTR174 Cataract 40 30
1181 CRN010 Corneal Granular Dystrophy 30
1182 c RTN210 Retinitis Pigmentosa 50 30
1183 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 30
1184 CNJ001 Conjugate Gaze Palsy 30
1185 c HRM020 Hermansky-Pudlak Syndrome 10 30
1186 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 30
1187 c STC013 Stickler Syndrome, Type Ii 30
1188 RTN006 Retinal Drusen 30
1189 LGP001 Lagophthalmos 30
1190 IMM002 Immature Cataract 30
1191 LNS001 Lens Subluxation 30
1192 c MYS067 Myasthenic Syndrome, Congenital, 22 30
1193 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
1194 c RTN171 Retinitis Pigmentosa 59 30
1195 c DSB005 Desbuquois Dysplasia 2 30
1196 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 30
1197 c OST120 Osteopetrosis, Autosomal Recessive 5 30
1198 c HYP577 Hypotrichosis 13 30
1199 VTR002 Vitreous Syneresis 30
1200 c WLL037 Weill-Marchesani Syndrome 2 30
1201 c DYS146 Dystonia 24 29
1202 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
1203 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
1204 CNG005 Congenital Aphakia 29
1205 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 29
1206 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 29
1207 ACT022 Acute Retinal Necrosis Syndrome 29
1208 RTN019 Retinal Telangiectasia 29
1209 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 29
1210 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
1211 c DYS040 Dyskeratosis Congenita Autosomal Recessive 29
1212 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 29
1213 STR086 Stromal Dystrophy 29
1214 c JBR014 Joubert Syndrome 9 29
1215 CYC001 Cycloplegia 29
1216 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 29
1217 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1218 c ART112 Arthrogryposis, Distal, Type 10 29
1219 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
1220 CHR053 Chronic Follicular Conjunctivitis 29
1221 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
1222 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
1223 c SPS092 Spastic Paraplegia 11 29
1224 c PRX050 Peroxisome Biogenesis Disorder 9b 29
1225 P VTR008 Vitreoretinal Degeneration 29
1226 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 29
1227 c PRX048 Peroxisome Biogenesis Disorder 10a 29
1228 CRN004 Corneal Abscess 29
1229 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
1230 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
1231 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 29
1232 RNG003 Ring Dermoid of Cornea 29
1233 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 29
1234 CNJ010 Conjunctival Degeneration 29
1235 P SCL047 Sclerocornea 29
1236 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 29
1237 c LBR009 Leber Congenital Amaurosis 14 29
1238 c ERL012 Early-Onset Glaucoma 29
1239 c PRX051 Peroxisome Biogenesis Disorder 6a 29
1240 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 28
1241 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28
1242 c MCR252 Microphthalmia, Syndromic 5 28
1243 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 28
1244 c PRX053 Peroxisome Biogenesis Disorder 14b 28
1245 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 28
1246 c ANR046 Aniridia 3 28
1247 c SPS025 Spastic Paraplegia 15 28
1248 c GLL040 Galloway-Mowat Syndrome 3 28
1249 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 28
1250 c RTN106 Retinitis Pigmentosa 51 28
1251 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
1252 c STS007 Sotos Syndrome 2 28
1253 c MTC078 Mitochondrial Dna Depletion Syndrome 11 28
1254 SCL014 Scleral Staphyloma 28
1255 c PRX054 Peroxisome Biogenesis Disorder 12a 28
1256 c RTN146 Retinitis Pigmentosa 62 28
1257 c FRN033 Frontonasal Dysplasia 2 28
1258 c RTN052 Retinitis Pigmentosa 23 28
1259 CLS047 Classic Progressive Supranuclear Palsy Syndrome 28
1260 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 28
1261 FRN022 Frontofacionasal Dysplasia 28
1262 c RTN190 Retinitis Pigmentosa 76 28
1263 ALT003 Alternating Exotropia 28
1264 c INF019 Infectious Anterior Uveitis 28
1265 c CHR093 Chronic Orbital Inflammation 28
1266 c SPN286 Spinocerebellar Ataxia 40 28
1267 c ART104 Arthrogryposis, Distal, Type 5d 28
1268 RGL001 Regular Astigmatism 28
1269 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
1270 c HRD186 Hereditary Spastic Paraplegia 51 28
1271 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
1272 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
1273 c MTC074 Metachromatic Leukodystrophy, Adult Form 28
1274 LKC002 Leukocoria 28
1275 c ALB017 Albinism, Oculocutaneous, Type Vi 28
1276 c ANT083 Anterior Segment Dysgenesis 7 28
1277 CRN235 Corneal Dystrophy, Groenouw Type I 28
1278 c BRD021 Bardet-Biedl Syndrome 9 28
1279 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
1280 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
1281 CRN009 Corneal Ectasia 27
1282 c LYS020 Loeys-Dietz Syndrome 5 27
1283 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1284 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 27
1285 c MCR245 Microphthalmia, Syndromic 8 27
1286 c MCK028 Meckel Syndrome 13 27
1287 CLR132 Colorblindness, Partial, Deutan Series 27
1288 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
1289 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 27
1290 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 27
1291 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
1292 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 27
1293 c BRD050 Bardet-Biedl Syndrome 21 27
1294 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 27
1295 c LKD020 Leukodystrophy, Hypomyelinating, 10 27
1296 CHR077 Chorioretinal Scar 27
1297 PRL014 Paralytic Squint 27
1298 c JBR016 Joubert Syndrome 10 27
1299 GLD003 Goldmann-Favre Syndrome 27
1300 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 27
1301 c JBR031 Joubert Syndrome 21 27
1302 c INF122 Infantile Krabbe Disease 27
1303 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 27
1304 c KBK003 Kabuki Syndrome 2 27
1305 IRR001 Irregular Astigmatism 27
1306 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 27
1307 c ART128 Arthrogryposis, Distal, Type 6 27
1308 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
1309 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
1310 c SPS027 Spastic Paraplegia 17 27
1311 c DYS145 Dystonia 23 27
1312 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 27
1313 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
1314 ISL011 Isolated Aniridia 27
1315 P ATX033 Ataxia-Oculomotor Apraxia 4 27
1316 PRF002 Perforated Corneal Ulcer 27
1317 CCT001 Cicatricial Ectropion 27
1318 c PRX065 Peroxisome Biogenesis Disorder 3a 27
1319 VST003 Vestibular Nystagmus 27
1320 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 27
1321 c MCR352 Microphthalmia, Isolated, with Coloboma 6 27
1322 SLF015 Self-Improving Collodion Baby 27
1323 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
1324 HMC012 Hemicrania Continua 26
1325 c MCR312 Microphthalmia, Syndromic 10 26
1326 c PRX043 Peroxisome Biogenesis Disorder 6b 26
1327 OLG014 Oligocone Trichromacy 26
1328 c MYS076 Myasthenic Syndrome, Congenital, 8 26
1329 CTR014 Cataract Microcornea Syndrome 26
1330 c RTN213 Retinitis Pigmentosa 80 26
1331 NCR009 Necrobiotic Xanthogranuloma 26
1332 STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 26
1333 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 26
1334 CRN238 Corneal Dystrophy, Epithelial Basement Membrane 26
1335 MCH006 Mechanical Strabismus 26
1336 MCR067 Microcoria, Congenital 26
1337 MCL018 Macular Dystrophy, Concentric Annular 26
1338 CLB009 Coloboma of Iris 26
1339 c NYS017 Nystagmus 1, Congenital, X-Linked 26
1340 c JBR013 Joubert Syndrome 8 26
1341 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 26
1342 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
1343 c JBR018 Joubert Syndrome 4 26
1344 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 26
1345 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 26
1346 c RTN176 Retinitis Pigmentosa 71 26
1347 c JVN015 Juvenile Huntington Disease 26
1348 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 26
1349 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
1350 c MCR212 Microphthalmia, Syndromic 12 26
1351 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 26
1352 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
1353 CRN022 Corneal Degeneration 26
1354 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 26
1355 MNC001 Monocular Esotropia 26
1356 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 26
1357 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 26
1358 ACC003 Accommodative Esotropia 26
1359 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 26
1360 SHR065 Short Stature with Microcephaly and Distinctive Facies 26
1361 PSD004 Pseudomembranous Conjunctivitis 26
1362 MRG001 Morgagni Cataract 26
1363 CHR270 Chromosome 9p Duplication 26
1364 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 26
1365 c PRX046 Peroxisome Biogenesis Disorder 7a 26
1366 PNP001 Panophthalmitis 26
1367 c MCK035 Meckel Syndrome, Type 10 26
1368 PGM007 Pigmented Paravenous Chorioretinal Atrophy 26
1369 c CRN135 Cornelia De Lange Syndrome 3 26
1370 SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 26
1371 BTT011 Butterfly-Shaped Pigment Dystrophy 26
1372 RTN004 Retinal Microaneurysm 26
1373 c CCK004 Cockayne Syndrome Type Iii 25
1374 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
1375 ACT120 Acute Zonal Occult Outer Retinopathy 25
1376 SPR019 Superficial Keratitis 25
1377 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 25
1378 c MYS056 Myasthenic Syndrome, Congenital, 17 25
1379 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 25
1380 c PRX057 Peroxisome Biogenesis Disorder 4a 25
1381 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 25
1382 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 25
1383 c ART131 Arthrogryposis, Distal, Type 4 25
1384 c WLL040 Weill-Marchesani Syndrome 4 25
1385 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 25
1386 P NNT006 Neonatal Myasthenia Gravis 25
1387 OPH001 Ophthalmomyiasis 25
1388 c SPS013 Spastic Paraplegia 8 25
1389 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 25
1390 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 25
1391 VTR001 Vitreoretinal Dystrophy 25
1392 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 25
1393 TTR023 Tetraamelia-Multiple Malformations Syndrome 25
1394 c RTN159 Retinitis Pigmentosa 45 25
1395 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 25
1396 c WRB004 Warburg Micro Syndrome 3 25
1397 c LKD016 Leukodystrophy, Hypomyelinating, 9 25
1398 c SPN418 Spinocerebellar Ataxia 44 25
1399 c CRN215 Cornelia De Lange Syndrome 4 25
1400 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 25
1401 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 25
1402 BLP041 Blepharochalasis and Double Lip 25
1403 c PRX091 Peroxisome Biogenesis Disorder 8a 25
1404 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
1405 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 25
1406 c MYS064 Myasthenic Syndrome, Congenital, 16 25
1407 MTR001 Mature Cataract 25
1408 c CRN209 Cornelia De Lange Syndrome 5 25
1409 c PRX058 Peroxisome Biogenesis Disorder 4b 25
1410 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 25
1411 c FRN032 Frontonasal Dysplasia 3 25
1412 ISL089 Isolated Scaphocephaly 25
1413 c RTN060 Retinitis Pigmentosa 31 25
1414 HRD019 Hereditary Choroidal Atrophy 25
1415 c PRX047 Peroxisome Biogenesis Disorder 5b 25
1416 CNR033 Cone-Rod Synaptic Disorder, Congenital Nonprogressive 25
1417 c ART122 Arthrogryposis, Distal, Type 8 25
1418 c LKD030 Leukodystrophy, Hypomyelinating, 17 25
1419 IND004 Indeterminate Leprosy 25
1420 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
1421 c WLL038 Weill-Marchesani Syndrome 3 25
1422 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 25
1423 TTR027 Tetrasomy 15q26 25
1424 INT012 Interval Angle-Closure Glaucoma 25
1425 c SPS020 Spastic Paraplegia 1 25
1426 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
1427 CRL001 Cerulean Cataract 25
1428 RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 25
1429 HRD037 Hardikar Syndrome 25
1430 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 25
1431 c RTN178 Retinitis Pigmentosa 72 25
1432 c JBR030 Joubert Syndrome 22 25
1433 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 25
1434 c SPS041 Spastic Paraplegia 6 25
1435 c LBR029 Leber Congenital Amaurosis 17 25
1436 c JBR037 Joubert Syndrome 26 25
1437 c HYP576 Hypotrichosis 4 25
1438 c SPN421 Spinocerebellar Ataxia 47 25
1439 P XLN065 X-Linked Infantile Nystagmus 25
1440 P RTN102 Retinitis Pigmentosa, Y-Linked 25
1441 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 24
1442 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 24
1443 c LKD023 Leukodystrophy, Hypomyelinating, 12 24
1444 c BRD051 Bardet-Biedl Syndrome 20 24
1445 c PSD047 Pseudo-Turner Syndrome 24
1446 c SPN102 Spinocerebellar Ataxia 30 24
1447 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 24
1448 c LBR010 Leber Congenital Amaurosis 15 24
1449 c SHR032 Short Qt Syndrome 2 24
1450 CRN128 Corneal Dystrophy, Endothelial, X-Linked 24
1451 c MCR228 Microphthalmia, Syndromic 13 24
1452 ISL087 Isolated Oxycephaly 24
1453 TTR019 Tetrasomy 5p 24
1454 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 24
1455 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 24
1456 SRP002 Serpiginous Choroiditis 24
1457 c RTN141 Retinitis Pigmentosa 39 24
1458 c DYS151 Dystonia 25 24
1459 c CRN160 Corneal Dystrophy, Lattice Type Iiia 24
1460 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 24
1461 PRL018 Purulent Endophthalmitis 24
1462 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 24
1463 c HYP578 Hypotrichosis 12 24
1464 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 24
1465 RTN185 Retinal Dysplasia, Primary 24
1466 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 24
1467 PHK008 Phakomatosis Cesioflammea 24
1468 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 24
1469 c PRX052 Peroxisome Biogenesis Disorder 13a 24
1470 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 24
1471 c ANT085 Anterior Segment Dysgenesis 5 24
1472 ISL061 Isolated Brachycephaly 24
1473 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 24
1474 c STR040 Stargardt Disease 3 24
1475 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 24
1476 c FRD006 Friedreich Ataxia 2 24
1477 c SHR031 Short Qt Syndrome 1 24
1478 c RTN147 Retinitis Pigmentosa 48 24
1479 c SPN323 Spinocerebellar Ataxia 41 24
1480 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 24
1481 c LKD021 Leukodystrophy, Hypomyelinating, 11 24
1482 c CHR060 Chronic Dacryocystitis 24
1483 c SPS023 Spastic Paraplegia 13 24
1484 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 24
1485 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 24
1486 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
1487 SHK001 Shaken Baby Syndrome 24
1488 TRM002 Traumatic Glaucoma 24
1489 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 24
1490 PRT101 Poretti-Boltshauser Syndrome 24
1491 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 24
1492 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 24
1493 ISL019 Isolated Duane Retraction Syndrome 24
1494 c RTN157 Retinitis Pigmentosa 37 23
1495 ANS002 Aniseikonia 23
1496 PRT032 Partial Central Choroid Dystrophy 23
1497 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 23
1498 VTR018 Vitreoretinal Degeneration, Snowflake Type 23
1499 OCL057 Oculotrichodysplasia 23
1500 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 23
1501 c CTR124 Cataract 10, Multiple Types 23
1502 c CNR032 Cone-Rod Dystrophy 21 23
1503 DRM043 Dermochondrocorneal Dystrophy 23
1504 MTC181 Mitochondrial Dna-Related Progressive External Ophthalmoplegia 23
1505 P PST016 Posterior Polar Cataract 23
1506 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 23
1507 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 23
1508 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
1509 c DYS172 Dystonia 27 23
1510 c JBR039 Joubert Syndrome 28 23
1511 PLL009 Pellucid Marginal Degeneration 23
1512 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 23
1513 c PRX062 Peroxisome Biogenesis Disorder 8b 23
1514 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 23
1515 P NNP011 Nanophthalmos 2 23
1516 HYP047 Hypertropia 23
1517 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 23
1518 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 23
1519 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 23
1520 c RTN195 Retinitis Pigmentosa 79 23
1521 KRT074 Keratoendotheliitis Fugax Hereditaria 23
1522 c CNR026 Cone-Rod Dystrophy 18 23
1523 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 23
1524 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 23
1525 DPT001 Dipetalonemiasis 23
1526 c SPN259 Spinocerebellar Ataxia 32 23
1527 c SPS042 Spastic Paraplegia 9 23
1528 3MC004 3mc Syndrome 3 23
1529 c MNS008 Monosomy 21 23
1530 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 23
1531 c WRD022 Waardenburg Syndrome, Type 2d 23
1532 c GLC078 Glaucoma 1, Open Angle, F 23
1533 c LKD028 Leukodystrophy, Hypomyelinating, 15 23
1534 c WRD029 Waardenburg Syndrome, Type 2b 23
1535 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 23
1536 c JBR021 Joubert Syndrome 18 23
1537 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 23
1538 c RTN085 Retinitis Pigmentosa 54 23
1539 c LKD027 Leukodystrophy, Hypomyelinating, 14 22
1540 c CNR012 Cone-Rod Dystrophy 11 22
1541 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 22
1542 c SPS037 Spastic Paraplegia 31 22
1543 c DYS138 Dystonia 21 22
1544 c CNR025 Cone-Rod Dystrophy 15 22
1545 P ACT077 Acute Orbital Inflammation 22
1546 c SPN419 Spinocerebellar Ataxia 45 22
1547 c HYP564 Hypocalcemia, Autosomal Dominant 2 22
1548 ERY043 Euryblepharon 22
1549 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 22
1550 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
1551 c LKD029 Leukodystrophy, Hypomyelinating, 16 22
1552 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 22
1553 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 22
1554 c GLL041 Galloway-Mowat Syndrome 4 22
1555 c SNR015 Senior-Loken Syndrome 8 22
1556 c ADL084 Adult-Onset Myasthenia Gravis 22
1557 PHC001 Phacolytic Glaucoma 22
1558 ORB010 Orbital Granuloma 22
1559 c SPS198 Spastic Paraplegia 16, X-Linked 22
1560 CRT069 Cortical Malformations, Occipital 22
1561 c JBR040 Joubert Syndrome 30 22
1562 c JBR047 Joubert Syndrome 35 22
1563 c EXD007 Exudative Vitreoretinopathy 3 22
1564 c MCR217 Microphthalmia, Syndromic 11 22
1565 c RTN192 Retinitis Pigmentosa 77 22
1566 c CRN280 Cornea Plana 2, Autosomal Recessive 22
1567 c RTN117 Retinitis Pigmentosa 57 22
1568 c PRS058 Prosopagnosia, Hereditary 22
1569 MSC089 Mosaic Monosomy X 22
1570 CHR167 Chorioretinal Atrophy, Progressive Bifocal 22
1571 c SPS028 Spastic Paraplegia 18 22
1572 c TRC073 Treacher Collins Syndrome 2 22
1573 c CNR030 Cone-Rod Dystrophy 20 22
1574 c SNR004 Senior-Loken Syndrome 4 22
1575 DPK001 Deep Keratitis 22
1576 c MYS077 Myasthenic Syndrome, Congenital, 15 22
1577 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 22
1578 c GLL042 Galloway-Mowat Syndrome 5 22
1579 c CRN147 Corneal Dystrophy, Fuchs Endothelial, 6 22
1580 SWN003 Sweeney-Cox Syndrome 22
1581 c JBR043 Joubert Syndrome 32 22
1582 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 22
1583 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
1584 c TRC071 Treacher Collins Syndrome 3 22
1585 c MCK036 Meckel Syndrome, Type 9 22
1586 8P2002 8p23.1 Duplication Syndrome 22
1587 c SPN107 Spinocerebellar Ataxia 9 22
1588 c ATX024 Ataxia-Oculomotor Apraxia 3 22
1589 c JBR028 Joubert Syndrome 13 22
1590 RTN212 Retinal Dystrophy with or Without Macular Staphyloma 22
1591 c SPS034 Spastic Paraplegia 26 22
1592 c CWD009 Cowden Syndrome 7 22
1593 c CNR021 Cone-Rod Dystrophy 10 22
1594 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 22
1595 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 22
1596 c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 21
1597 BTH002 Bothnia Retinal Dystrophy 21
1598 c MCR262 Microphthalmia, Syndromic 4 21
1599 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 21
1600 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
1601 c CLC055 Cole-Carpenter Syndrome 2 21
1602 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 21
1603 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 21
1604 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 21
1605 P MNS011 Monosomy 9q22.3 21
1606 c CTR182 Cataract 23, Multiple Types 21
1607 P ERL043 Early-Onset Nuclear Cataract 21
1608 OCL070 Oculopalatocerebral Syndrome 21
1609 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 21
1610 EXT029 Extraocular Retinoblastoma 21
1611 P IDP049 Idiopathic Anterior Uveitis 21
1612 ORB007 Orbital Cyst 21
1613 c SHR033 Short Qt Syndrome 3 21
1614 c CWD008 Cowden Syndrome 6 21
1615 c CHR449 Choroidal Dystrophy, Central Areolar 2 21
1616 c RTN144 Retinitis Pigmentosa 61 21
1617 RTN216 Retinitis Pigmentosa 82 with or Without Situs Inversus 21
1618 SCL011 Sclerosing Keratitis 21
1619 FLY003 Flynn-Aird Syndrome 21
1620 c JBR045 Joubert Syndrome 33 21
1621 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
1622 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 21
1623 c HRN024 Horner Syndrome, Congenital 21
1624 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21
1625 c PRX068 Peroxisome Biogenesis Disorder 7b 21
1626 c RTN181 Retinitis Pigmentosa 2, X-Linked 21
1627 c MCR350 Microphthalmia, Isolated, with Coloboma 5 21
1628 CHR241 Chromosome 2q24 Microdeletion Syndrome 21
1629 c MCK020 Meckel Syndrome, Type 11 21
1630 c RTN196 Retinitis Pigmentosa 78 21
1631 c CTR136 Cataract 41 21
1632 c SPS062 Spastic Paraplegia 34, X-Linked 21
1633 TCT002 Tactile Agnosia 21
1634 CHR252 Chromosome 5p Duplication 21
1635 EYD001 Eye Degenerative Disease 21
1636 c PRX066 Peroxisome Biogenesis Disorder 3b 21
1637 c JBR044 Joubert Syndrome 31 21
1638 c PRX089 Peroxisome Biogenesis Disorder 10b 21
1639 c ACT037 Acute Dacryocystitis 21
1640 DCR002 Dacryocystocele 20
1641 c BLP049 Blepharocheilodontic Syndrome 2 20
1642 c SPS022 Spastic Paraplegia 12 20
1643 c CWD004 Cowden Syndrome 5 20
1644 ACC002 Accommodative Spasm 20
1645 CRN007 Corneal Staphyloma 20
1646 c LPR023 Leprosy 1 20
1647 c RTN065 Retinitis Pigmentosa 36 20
1648 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 20
1649 c STC011 Stickler Syndrome, Type V 20
1650 c JBR038 Joubert Syndrome 27 20
1651 SPS087 Spasmus Nutans 20
1652 CLB011 Coloboma of Macula with Type B Brachydactyly 20
1653 CGN001 Cogan-Reese Syndrome 20
1654 c CRN068 Corneal Endothelial Dystrophy Type 2 20
1655 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 20
1656 c MCR210 Microphthalmia, Isolated, with Coloboma 7 20
1657 c GLC054 Glaucoma 3, Primary Congenital, D 20
1658 c MCR214 Microphthalmia, Isolated, with Coloboma 9 20
1659 c XLN227 X-Linked Chondrodysplasia Punctata 1 20
1660 DRM015 Dermoids of Cornea 20
1661 c XLN229 X-Linked Chondrodysplasia Punctata 2 20
1662 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 20
1663 P PRX064 Peroxisome Biogenesis Disorder 2b 20
1664 MCR220 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 20
1665 P MCL035 Macular Dystrophy, Retinal, 2 20
1666 c ART060 Arthrogryposis, Distal, Type 1b 20
1667 ALT004 Alternating Esotropia 20
1668 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 20
1669 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 20
1670 ORB019 Orbital Margin, Hypoplasia of 20
1671 c SNR011 Senior-Loken Syndrome 3 20
1672 c RTN180 Retinitis Pigmentosa 74 20
1673 SLR002 Solar Retinopathy 20
1674 c SPS032 Spastic Paraplegia 24 20
1675 HRR005 Harrod Syndrome 20
1676 c HRD210 Hereditary Spastic Paraplegia 23 20
1677 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 20
1678 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 20
1679 c RTN218 Retinitis Pigmentosa 84 20
1680 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 20
1681 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 20
1682 CTR027 Cataract-Glaucoma 20
1683 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 20
1684 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 20
1685 ARG003 Argyll Robertson Pupil 20
1686 c MCL039 Macular Degeneration, Age-Related, 8 20
1687 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 20
1688 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 20
1689 c RTN214 Retinitis Pigmentosa 81 20
1690 c SPS029 Spastic Paraplegia 19 20
1691 c CNR024 Cone-Rod Dystrophy 13 20
1692 ISL084 Isolated Trigonocephaly 19
1693 SNL001 Senile Entropion 19
1694 MNT308 Mental Retardation with Optic Atrophy, Deafness, and Seizures 19
1695 c HYP528 Hypotrichosis 11 19
1696 c STS009 Sotos Syndrome 3 19
1697 c STC012 Stickler Syndrome, Type Iv 19
1698 GRM003 German Syndrome 19
1699 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 19
1700 P MCR349 Microphthalmia, Isolated, with Coloboma 3 19
1701 c SNR007 Senior-Loken Syndrome 7 19
1702 c STC007 Stickler Syndrome, Type 3 19
1703 c LKD031 Leukodystrophy, Hypomyelinating, 18 19
1704 CMB076 Combined Oxidative Phosphorylation Deficiency 31 19
1705 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 19
1706 c NNP012 Nanophthalmos 4 19
1707 NTH002 Nathalie Syndrome 19
1708 ATS012 Autosomal Dominant Partial Epilepsy with Auditory Features 19
1709 IDP006 Idiopathic Corneal Edema 19
1710 c HYP573 Hypotrichosis 5 19
1711 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
1712 RTH002 Rutherfurd Syndrome 19
1713 RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 19
1714 c SPS033 Spastic Paraplegia 25 19
1715 c SPS035 Spastic Paraplegia 29 19
1716 c SPS038 Spastic Paraplegia 39 19
1717 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 19
1718 INT313 Intellectual Developmental Disorder with Cardiac Arrhythmia 19
1719 c RTN130 Retinitis Pigmentosa 46 19
1720 CRN126 Corneal Dystrophy, Lisch Epithelial 19
1721 BLP042 Blepharoptosis, Myopia, and Ectopia Lentis 19
1722 MCR303 Macrosomia with Microphthalmia, Lethal 19
1723 PPL023 Pupil Disease 19
1724 c SPS080 Spastic Paraplegia 51 19
1725 PHL001 Phlyctenulosis 19
1726 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 19
1727 SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 19
1728 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 19
1729 FCL013 Focal Chorioretinitis 19
1730 c ACQ050 Acquired Schizencephaly 18
1731 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 18
1732 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 18
1733 CRN023 Corneal Deposit 18
1734 c SPS026 Spastic Paraplegia 16 18
1735 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 18
1736 c SPR049 Supranuclear Palsy, Progressive, 2 18
1737 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 18
1738 GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 18
1739 c ANT067 Anterior Segment Dysgenesis 8 18
1740 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 18
1741 c SPS161 Spastic Paraplegia 32 18
1742 MYP060 Myopic Macular Degeneration 18
1743 RDR002 Rodrigues Blindness 18
1744 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 18
1745 ABN001 Abnormal Retinal Correspondence 18
1746 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 18
1747 c CHR059 Chronic Endophthalmitis 18
1748 c GLL045 Galloway-Mowat Syndrome 6 18
1749 RTN170 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 18
1750 c SNR006 Senior-Loken Syndrome 6 18
1751 ITR001 Iatrogenic Botulism 18
1752 c CWD005 Cowden Syndrome 4 18
1753 MCR307 Microspherophakia-Metaphyseal Dysplasia 18
1754 c MCR271 Microphthalmia, Isolated, with Coloboma 10 18
1755 c HRD188 Hereditary Spastic Paraplegia 72 18
1756 CTR107 Cataract 13 with Adult I Phenotype 18
1757 NWF001 Newfoundland Rod-Cone Dystrophy 18
1758 c EFM001 Efemp2-Related Cutis Laxa 18
1759 SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 18
1760 ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 18
1761 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 18
1762 c CNR029 Cone-Rod Dystrophy 19 18
1763 c CHR665 Choroidal Dystrophy, Central Areolar, 3 18
1764 DST044 Distal Trisomy 14q 18
1765 MCR317 Macrophthalmia, Colobomatous, with Microcornea 18
1766 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 18
1767 c GLL046 Galloway-Mowat Syndrome 7 18
1768 c LPR017 Leprosy 5 17
1769 EPB002 Epiblepharon 17
1770 c WRD026 Waardenburg Syndrome, Type 2c 17
1771 PHC002 Phacogenic Glaucoma 17
1772 CLB008 Coloboma of Eye Lens 17
1773 c MSC139 Mosaic Variegated Aneuploidy Syndrome 3 17
1774 c SPS024 Spastic Paraplegia 14 17
1775 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
1776 CCT003 Cicatricial Entropion 17
1777 c MCR335 Microphthalmia, Isolated, with Coloboma 4 17
1778 SCL008 Scleromalacia Perforans 17
1779 c NNP017 Nanophthalmos 1 17
1780 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 17
1781 IGG009 Igg4-Related Ophthalmic Disease 17
1782 c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 17
1783 c TRN062 Transient Neonatal Myasthenia Gravis 17
1784 AQS001 Aqueous Misdirection 17
1785 c GLL047 Galloway-Mowat Syndrome 8 17
1786 c SX2003 Six2-Related Frontonasal Dysplasia 17
1787 ERL040 Early-Onset Sutural Cataract 17
1788 MNF001 Monofixation Syndrome 17
1789 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 17
1790 c ART054 Arthrogryposis, Distal, Type 2e 17
1791 c GLC089 Glaucoma 3, Primary Congenital, E 17
1792 MCR330 Microphthalmia, Isolated, with Cataract 1 17
1793 c SRC024 Sarcoidosis 3 17
1794 PLS001 Pulsating Exophthalmos 17
1795 PRG116 Progressive Supranuclear Palsy-Corticobasal Syndrome 17
1796 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
1797 DST036 Distal Trisomy 15q 17
1798 c ANT087 Anterior Segment Dysgenesis 6 17
1799 c MCL026 Macular Dystrophy, Retinal, 3 17
1800 OPH014 Ophthalmomandibulomelic Dysplasia 17
1801 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 17
1802 c NYS012 Nystagmus 5, Congenital, X-Linked 17
1803 c ART156 Arthrogryposis, Distal, Type 2b2 17
1804 c NYS013 Nystagmus 6, Congenital, X-Linked 17
1805 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 17
1806 c ART157 Arthrogryposis, Distal, Type 2b3 16
1807 PTS017 Ptosis, Strabismus, and Ectopic Pupils 16
1808 PHC015 Phacoanaphylactic Uveitis 16
1809 c HYP551 Hypotrichosis 9 16
1810 c CRN279 Cornea Plana 1, Autosomal Dominant 16
1811 BLT023 Bilateral Acute Depigmentation of the Iris 16
1812 ESS005 Essential Iris Atrophy 16
1813 BLN008 Blind Hypotensive Eye 16
1814 c HYP832 Hypotrichosis 14 16
1815 NSL017 Nasolacrimal Duct Cyst 16
1816 8Q1001 8q12 Microduplication Syndrome 16
1817 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 16
1818 HRD017 Hordeolum Externum 16
1819 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 16
1820 c KRT075 Keratoconus 9 16
1821 INF053 Infantile Spasms Broad Thumbs 16
1822 ISL067 Isolated Congenital Megalocornea 16
1823 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 16
1824 ORB003 Orbital Tenonitis 16
1825 c HNT013 Huntington Disease-Like Syndrome 16
1826 CNJ002 Conjunctival Folliculosis 16
1827 c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 16
1828 EXP003 Exophthalmic Ophthalmoplegia 16
1829 ERL037 Early-Onset Lamellar Cataract 16
1830 CLM004 Climatic Droplet Keratopathy 16
1831 WHT005 White Forelock with Malformations 16
1832 RDL029 Radial Ray Hypoplasia with Choanal Atresia 16
1833 c TYS005 Tay-Sachs Disease, B1 Variant 16
1834 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 16
1835 MNS013 Monosomy 13q34 16
1836 P GLC100 Glaucoma 1, Open Angle, D 16
1837 NCL001 Nuclear Senile Cataract 16
1838 c GLC052 Glaucoma 3, Primary Congenital, C 16
1839 AST004 Astereognosia 16
1840 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 16
1841 AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 16
1842 c HYP544 Hypotrichosis 10 16
1843 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
1844 c GLC099 Glaucoma 1, Primary Open Angle, C 15
1845 c CRN218 Corneal Dystrophy, Fuchs Endothelial, 8 15
1846 PDT013 Pediatric Extraocular Retinoblastoma 15
1847 INH013 Inhalational Botulism 15
1848 HYD049 Hydrocephalus with Cerebellar Agenesis 15
1849 PDT010 Pediatric Intraocular Retinoblastoma 15
1850 c MCR338 Microphthalmia, Isolated, with Coloboma 1 15
1851 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 15
1852 c MTC014 Mitochondrial Dna Deletion Syndromes 15
1853 DST082 Distal Trisomy 10q 15
1854 EPT023 Epithelial and Subepithelial Dystrophy 15
1855 VNB001 Van Benthem-Driessen-Hanveld Syndrome 15
1856 c LPR020 Leprosy 6 15
1857 RTC011 Reticular Dystrophy of Retinal Pigment Epithelium 15
1858 PRL006 Paralytic Lagophthalmos 15
1859 c LPR016 Leprosy 4 15
1860 EPT024 Epithelial-Stromal Tgfbi Dystrophy 15
1861 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 15
1862 c SPS040 Spastic Paraplegia 5b 15
1863 c MCR346 Microphthalmia, Isolated, with Coloboma 2 15
1864 c GLC101 Glaucoma 1, Open Angle, B 14
1865 MCR242 Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 14
1866 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
1867 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 14
1868 CNG067 Congenital Cystic Eye 14
1869 c SPS230 Spastic Paraplegia Type 49 14
1870 CNT088 Central Cloudy Dystrophy of Francois 14
1871 DSS005 Dissociated Nystagmus 14
1872 VCL007 Vocal Cord Paralysis and Ptosis 14
1873 c GLC060 Glaucoma 1, Open Angle, G 14
1874 c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 14
1875 c ATS413 Autosomal Recessive Anterior Segment Dysgenesis 14
1876 PRS110 Persistent Placoid Maculopathy 14
1877 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 14
1878 CYC003 Cyclotropia 14
1879 c RTN208 Retinopathy, Pericentral Pigmentary, Autosomal Recessive 14
1880 c GLC051 Glaucoma 1, Open Angle, M 14
1881 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 14
1882 c DNS004 Duane Syndrome Type 2 14
1883 c GLC104 Glaucoma 1, Open Angle, O 14
1884 MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 14
1885 NND003 Non-Distal Trisomy 10q 14
1886 MYC004 Mycotic Corneal Ulcer 14
1887 c PSD023 Pseudo-Gaucher Disease 14
1888 GNR029 Generalized Galactose Epimerase Deficiency 14
1889 P RTN200 Retinopathy, Pericentral Pigmentary, Dominant 14
1890 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 13
1891 c SPS165 Spastic Paraplegia 47 13
1892 TRP011 Triopia 13
1893 c CTR176 Cataract, Age-Related Nuclear 13
1894 ANR041 Aniridia-Intellectual Disability Syndrome 13
1895 EYC003 Eye Accommodation Disease 13
1896 ACR078 Acral Self-Healing Collodion Baby 13
1897 ORB018 Orbital Leiomyoma 13
1898 P DNS003 Duane Syndrome Type 1 13
1899 c GLC076 Glaucoma 1, Open Angle, H 13
1900 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 13
1901 c GLC103 Glaucoma 1, Open Angle, K 13
1902 c KMT002 Kmt2b-Related Dystonia 13
1903 NND004 Non-Distal Monosomy 10q 13
1904 SCL050 Scoliosis, Arachnodactyly, and Blindness 13
1905 ANG003 Angelucci's Syndrome 13
1906 c FRM005 Frmd7-Related Infantile Nystagmus 13
1907 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 13
1908 c ACT030 Acute Dacryoadenitis 13
1909 c INF152 Infectious Posterior Uveitis 13
1910 CNG335 Congenital Ectropion Uveae 13
1911 P IDP065 Idiopathic Macular Telangiectasia Type 1 13
1912 c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 13
1913 ERL036 Early-Onset Posterior Subcapsular Cataract 12
1914 ETH013 Euthyroid Graves Orbitopathy 12
1915 PRD026 Pre-Descemet Corneal Dystrophy 12
1916 CLF040 Cleft Lip-Retinopathy Syndrome 12
1917 ISL131 Isolated Foveal Hypoplasia 12
1918 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 12
1919 c HLL012 Hallermann-Streiff-Like Syndrome 12
1920 APP006 Apperceptive Agnosia 12
1921 c SCL053 Sclerocornea, Autosomal Dominant 12
1922 PRG115 Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome 12
1923 TXN001 Toxin-Mediated Infectious Botulism 12
1924 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 12
1925 HST002 Histoplasmosis Retinitis 12
1926 PRG117 Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome 12
1927 c ACQ002 Acquired Night Blindness 12
1928 ISL128 Isolated Microspherophakia 12
1929 c RTN201 Retinoschisis, Autosomal Dominant 12
1930 c B3G001 B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome 12
1931 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 12
1932 PRP103 Peripapillary Staphyloma 12
1933 BRD008 Borderline Glaucoma 12
1934 c NNP008 Nanophthalmos 3 12
1935 CRN002 Corneal Argyrosis 12
1936 c GRD008 Grid2-Related Spinocerebellar Ataxia 12
1937 THY013 Thyrotoxic Exophthalmos 12
1938 NDL008 Nodular Episcleritis 11
1939 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 11
1940 CNG400 Congenital Hereditary Endothelial Dystrophy Type I 11
1941 P GLC102 Glaucoma 1, Open Angle, J 11
1942 P ACT070 Acute Inflammation of Lacrimal Passage 11
1943 INT176 Intraocular Medulloepithelioma 11
1944 PSD006 Pseudopterygium 11
1945 P ACT026 Acute Canaliculitis 11
1946 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 11
1947 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 11
1948 INT026 Intermittent Proptosis 11
1949 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 11
1950 c SPR048 Supranuclear Palsy, Progressive, 3 11
1951 c GM2001 Gm2 Gangliosidosis, 0 Variant 11
1952 CNG357 Congenital Symblepharon 11
1953 MCH001 Mechanical Ectropion 11
1954 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 10
1955 HMN007 Hemangioma of Orbit 10
1956 PRT027 Partial Arterial Retinal Occlusion 10
1957 c CHR035 Chronic Dacryoadenitis 10
1958 ERY041 Erythrocyte Galactose Epimerase Deficiency 10
1959 TRN010 Transient Retinal Arterial Occlusion 10
1960 OPH003 Ophthalmia Nodosa 10
1961 TRR003 Terrien Marginal Degeneration 10
1962 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 10
1963 INF115 Infectious Epithelial Keratitis 10
1964 ISL065 Isolated Congenital Alacrima 10
1965 CNT011 Contact Blepharoconjunctivitis 10
1966 P VRC007 Varicella, Severe Recurrent 10
1967 c GLC080 Glaucoma 1, Open Angle, N 10
1968 c LTN017 Late-Infantile/juvenile Krabbe Disease 10
1969 ACT168 Acute Annular Outer Retinopathy 10
1970 HYP062 Hypopyon Ulcer 10
1971 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1972 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 10
1973 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1974 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 9
1975 c ERL039 Early-Onset Anterior Polar Cataract 9
1976 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 9
1977 c CNG433 Congenital Cornea Plana 9
1978 STP001 Staphyloma Posticum 9
1979 EQT001 Equatorial Staphyloma 9
1980 c CHR061 Chronic Canaliculitis 9
1981 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 9
1982 ULC003 Ulcerative Blepharitis 9
1983 c GLC032 Glaucoma, Hereditary 9
1984 c FBL003 Fbln5-Related Cutis Laxa 9
1985 c ADL071 Adult Krabbe Disease 9
1986 GNC009 Gonococcal Seminal Vesiculitis 9
1987 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1988 MRG002 Marginal Corneal Ulcer 9
1989 CCT004 Cicatricial Lagophthalmos 9
1990 c CNT026 Central Corneal Ulcer 9
1991 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 9
1992 BLL005 Bullous Retinoschisis 9
1993 c NYS019 Nystagmus, Congenital, Autosomal Recessive 9
1994 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 9
1995 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 9
1996 DST090 Distal Trisomy 2p 9
1997 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 9
1998 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
1999 INV017 Inverse Marcus-Gunn Phenomenon 8
2000 c GLL043 Galloway-Mowat Syndrome 2 8
2001 STR016 Steroid-Induced Glaucoma - Borderline 8
2002 c IDP048 Idiopathic Posterior Uveitis 8
2003 IDP047 Idiopathic Panuveitis 8
2004 INT008 Intermittent Squint 8
2005 MRN008 Marin-Amat Syndrome 8
2006 TTN002 Tetanic Cataract 8
2007 NDL004 Nodular Degeneration of Cornea 8
2008 c ALP056 Alpha-Mannosidosis, Adult Form 8
2009 c ALP055 Alpha-Mannosidosis, Infantile Form 8
2010 BRW005 Brawny Scleritis 8
2011 c SDR001 Siderosis of Eye 8
2012 ORB005 Orbital Periostitis 8
2013 P ANT012 Anterior Dislocation of Lens 8
2014 NBL002 Noble Bass Sherman Syndrome 8
2015 3Q2004 3q26 Microduplication Syndrome 8
2016 PLZ007 Pelizaeus-Merzbacher Disease, Classic Form 8
2017 ABN004 Abnormal Pupillary Function 8
2018 TRN011 Transient Refractive Change 8
2019 MLT117 Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 8
2020 PHK009 Phakomatosis Cesiomarmorata 8
2021 OKH001 Okihiro Syndrome Due to a Point Mutation 8
2022 LNS002 Lens-Induced Iridocyclitis 7
2023 MCR069 Microcornea Corectopia Macular Hypoplasia 7
2024 P JVN036 Juvenile Sialidosis Type 2 7
2025 c CNG348 Congenital Sialidosis Type 2 7
2026 CNJ011 Conjunctival Deposit 7
2027 TRS020 Tarsal Kink Syndrome 7
2028 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 7
2029 FND005 Fundus Pulverulentus 7
2030 c DNS005 Duane Syndrome Type 3 7
2031 c IDP066 Idiopathic Macular Telangiectasia Type 3 7
2032 c SJG003 Sjogren-Larsson-Like Syndrome 7
2033 ACQ003 Acquired Tear Duct Stenosis 7
2034 CNJ008 Conjunctival Concretion 7
2035 PHL004 Phlegmonous Dacryocystitis 7
2036 c PST025 Posterior Dislocation of Lens 7
2037 c PST012 Posterior Corneal Pigmentation 7
2038 STB001 Stable Condition Keratoconus 7
2039 ANG010 Angular Blepharoconjunctivitis 7
2040 LXT001 Luxation of Globe 7
2041 PLZ008 Pelizaeus-Merzbacher Disease, Transitional Form 7
2042 IDP043 Idiopathic Uveal Effusion Syndrome 7
2043 PHK010 Phakomatosis Spilorosea 7
2044 SPS001 Spastic Ectropion 7
2045 KRS001 Krauss Herman Holmes Syndrome 7
2046 P SMN001 Seminal Vesicle Acute Gonorrhea 7
2047 c SMN004 Seminal Vesicle Chronic Gonorrhea 7
2048 CRT003 Cortical Senile Cataract 7
2049 STN002 Stenosis of Lacrimal Punctum 7
2050 SCL005 Scleroperikeratitis 6
2051 HYP023 Hypersecretion Glaucoma 6
2052 P ANT008 Anterior Corneal Pigmentation 6
2053 SQM003 Squamous Blepharitis 6
2054 c MCR282 Microcephaly and Chorioretinopathy 1 6
2055 c MCR283 Microcephaly and Chorioretinopathy 2 6
2056 c MCR284 Microcephaly and Chorioretinopathy 3 6
2057 RNG002 Ring Corneal Ulcer 6
2058 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
2059 DBL001 Double Pterygium 6
2060 c CHR088 Chronic Inflammation of Lacrimal Passage 6
2061 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
2062 VTR004 Vitreous Abscess 6
2063 MCH004 Mechanical Entropion 6
2064 RTN189 Retinal Capillary Malformation 6
2065 c OCL037 Oculodentodigital Dysplasia Dominant 6
2066 DSS001 Disseminated Chorioretinitis 6
2067 MNC005 Monocular Exotropia 6
2068 PLZ009 Pelizaeus-Merzbacher Disease in Female Carriers 6
2069 STN003 Stenosis of Lacrimal Passage 6
2070 ACT005 Acute Hydrops Keratoconus 6
2071 ERL041 Early-Onset Zonular Cataract 6
2072 CNJ015 Conjunctivitis with Pseudomembrane 6
2073 CMP057 Complete Cryptophthalmia 6
2074 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 5
2075 c GLC035 Glaucoma, Primary Infantile Type 3a 5
2076 c GLC033 Glaucoma, Hereditary Adult Type 1a 5
2077 c GLC029 Glaucoma Type 1c 5
2078 RSD002 Residual Stage of Open Angle Glaucoma 5
2079 PRP014 Peripheral Degeneration of Cornea 5
2080 c SCN004 Secondary Vitreoretinal Degeneration 5
2081 RSD001 Residual Stage Angle-Closure Glaucoma 5
2082 LCR003 Lacrimal Passage Granuloma 5
2083 c SCN003 Secondary Corneal Edema 5
2084 ABN003 Abnormal Threshold of Rods 5
2085 LTR005 Lateral Displacement of Eye 5
2086 EPS002 Episcleritis Periodica Fugax 5
2087 GNC007 Gonococcal Keratitis 5
2088 BWM001 Bowman's Membrane Folds or Rupture 5
2089 PRM009 Primary Eye Hypotony 5
2090 MCL004 Macular Keratitis 5
2091 MYT001 Myotonic Cataract 5
2092 LCL001 Localized Anterior Staphyloma 5
2093 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 5
2094 CNT008 Contact Lens Corneal Edema 5
2095 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 5
2096 SPP006 Suppurative Uveitis 5
2097 P PRM007 Primary Lacrimal Atrophy 5
2098 DMR001 De Morsier's Syndrome Information 5
2099 PRP012 Peripheral Focal Chorioretinitis 5
2100 TTL003 Total Circumpapillary Dystrophy of Choroid 5
2101 GRY003 Grayson-Wilbrandt Corneal Dystrophy 5
2102 CNT022 Central Gyrate Choroidal Dystrophy 5
2103 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 5
2104 PRG012 Progressive Peripheral Pterygium 5
2105 STN001 Stenosis of Lacrimal Sac 5
2106 ISL071 Isolated Congenital Ectropion 5
2107 RTN009 Retinal Dystrophies Primarily Involving Bruch's Membrane 5
2108 ERL027 Early-Onset Non-Syndromic Cataract 5
2109 PRT091 Partial Cryptophthalmia 5
2110 ERL042 Early-Onset Partial Cataract 5
2111 CNS003 Constant Exophthalmos 4
2112 EVR001 Eversion of Lacrimal Punctum 4
2113 DFF008 Diffuse Secondary Choroid Atrophy 4
2114 P CHR168 Chorioretinopathy Dominant Form Microcephaly 4
2115 c FRG006 Fragile X Syndrome Type 3 4
2116 P EPP001 Epiphora Due to Insufficient Drainage 4
2117 c SCN002 Secondary Lacrimal Atrophy 4
2118 c MCR048 Microcephaly Chorioretinopathy Recessive Form 4
2119 RNG001 Ring Staphyloma 4
2120 c EPP002 Epiphora Due to Excess Lacrimation 4
2121 c FRG004 Fragile X Syndrome Type 1 4
2122 P LGB001 Leg Absence Deformity Cataract 4
2123 MCH005 Mechanical Lagophthalmos 4
2124 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
2125 c FRG005 Fragile X Syndrome Type 2 4
2126 GNC004 Gonococcal Iridocyclitis 4
2127 SMP002 Simple Chronic Conjunctivitis 4
2128 GNC008 Gonococcal Endophthalmia 4
2129 DYS010 Dystrophies Primarily Involving the Retinal Pigment Epithelium 4
2130 SNL006 Senile Atrophy of Choroid 4
2131 PRT016 Partial Circumpapillary Choroid Dystrophy 4
2132 RSD003 Residual Stage Corticosteroid-Induced Glaucoma 4
2133 THY120 Thygeson Superficial Punctate Keratopathy 4
2134 RSC002 Rosacea Conjunctivitis 4
2135 ANG008 Angioid Streaks of Choroid 4
2136 FLT003 Flat Retinoschisis 4
2137 IDP050 Idiopathic Linear Interstitial Keratitis 4
2138 PHT005 Phthisical Cornea 4
2139 CNT006 Central Pterygium 4
2140 BLN007 Blind Hypertensive Eye 4
2141 PRS026 Parasitic Conjunctivitis 4
2142 PHL002 Philophthalmiasis 4
2143 INT284 Intellectual Disability-Cataracts-Kyphosis Syndrome 4
2144 ISL126 Isolated Iridoschisis 4
2145 ISL132 Isolated Megalopapilla 4
2146 ISL127 Isolated Blepharochalasis 4
2147 ANT015 Anatomical Narrow Angle Borderline Glaucoma 4
2148 ATS361 Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome 4
2149 ISL130 Isolated Congenital Entropion 4
2150 RTN007 Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses 4
2151 PRN060 Paraneoplastic Uveitis 3
2152 PPL048 Papillorenal Syndrome 50
2153 P RTN024 Retinoblastoma 72
2154 OPT008 Optic Nerve Neoplasm 38
2155 c FML008 Familial Retinoblastoma 34
2156 RTN015 Retinal Cancer 52
2157 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 42
2158 P NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 34
2159 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 31
2160 c HRD138 Hereditary Motor and Sensory Neuropathy V 31
2161 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 7
2162 ECZ002 Eczema Herpeticum 49
2163 P EXD001 Exudative Vitreoretinopathy 50
2164 OPT007 Optic Nerve Glioma 44
2165 CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 22
2166 MRC002 Marcus Gunn Phenomenon 53
2167 ACR012 Aicardi Syndrome 47
2168 P MCR241 Microphthalmia, Syndromic 3 42
2169 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 37
2170 WYB002 Wyburn-Mason Syndrome 31
2171 RTN011 Retina Lymphoma 29
2172 OCL009 Ocular Cancer 61
2173 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 52
2174 ELS001 Eales Disease 51
2175 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 49
2176 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 49
2177 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 46
2178 P NRD007 Neurodegeneration with Brain Iron Accumulation 45
2179 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 44
2180 P BLP047 Blepharocheilodontic Syndrome 1 44
2181 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 44
2182 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 43
2183 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 39
2184 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 39
2185 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 37
2186 c CRD225 Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant 30
2187 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 20
2188 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 20
2189 ACR006 Aceruloplasminemia 73
2190 P MCH002 Machado-Joseph Disease 63
2191 P HRM001 Hermansky-Pudlak Syndrome 63
2192 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 60
2193 c USH036 Usher Syndrome, Type I 59
2194 c HRM005 Hermansky-Pudlak Syndrome 1 54
2195 KNS001 Kniest Dysplasia 54
2196 BLL003 Bell's Palsy 53
2197 c HRM008 Hermansky-Pudlak Syndrome 5 52
2198 OCL008 Oculopharyngeal Muscular Dystrophy 52
2199 c HRM006 Hermansky-Pudlak Syndrome 3 51
2200 c HRM017 Hermansky-Pudlak Syndrome 2 51
2201 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 49
2202 c HRM009 Hermansky-Pudlak Syndrome 6 44
2203 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 43
2204 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 42
2205 c HRM011 Hermansky-Pudlak Syndrome 8 39
2206 c HRM007 Hermansky-Pudlak Syndrome 4 38
2207 c HRM012 Hermansky-Pudlak Syndrome 9 37
2208 c HRM010 Hermansky-Pudlak Syndrome 7 35
2209 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 31
2210 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 28
2211 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 25
2212 WBB001 Webb-Dattani Syndrome 22
2213 c MCH013 Machado-Joseph Disease Type 3 19
2214 c MCH014 Machado-Joseph Disease Type 2 19
2215 c MCH012 Machado-Joseph Disease Type 1 19
2216 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 15
2217 c EXD008 Exudative Vitreoretinopathy 1 72
2218 P CNG001 Congenital Myasthenic Syndrome 66
2219 CHR103 Charge Syndrome 61
2220 INT030 Intracranial Aneurysm 59
2221 RRR001 Rere-Related Disorders 59
2222 c SPN294 Spinocerebellar Ataxia 1 59
2223 P SPN301 Spinocerebellar Ataxia 2 59
2224 PBL005 Piebald Trait 58
2225 TXC002 Toxic Encephalopathy 57
2226 SPN008 Spondyloepiphyseal Dysplasia Congenita 57
2227 P OCL002 Oculocutaneous Albinism 54
2228 RTN020 Retinal Vascular Disease 54
2229 c SPN291 Spinocerebellar Ataxia 7 53
2230 FLR001 Filarial Elephantiasis 53
2231 c SPN314 Spinocerebellar Ataxia 10 51
2232 c SPN296 Spinocerebellar Ataxia 17 48
2233 c USH037 Usher Syndrome, Type Iia 47
2234 c MYS051 Myasthenic Syndrome, Congenital, 5 47
2235 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 47
2236 c SPN311 Spinocerebellar Ataxia 13 46
2237 c SPN097 Spinocerebellar Ataxia 23 45
2238 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 44
2239 c SPN290 Spinocerebellar Ataxia 15 43
2240 c SPN305 Spinocerebellar Ataxia 11 42
2241 c SPN265 Spinocerebellar Ataxia 36 42
2242 c SPN283 Spinocerebellar Ataxia 37 41
2243 c SPN304 Spinocerebellar Ataxia 8 41
2244 c SPN106 Spinocerebellar Ataxia 5 41
2245 c MYS052 Myasthenic Syndrome, Congenital, 10 39
2246 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 39
2247 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 39
2248 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
2249 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 37
2250 c SPN094 Spinocerebellar Ataxia 18 37
2251 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 37
2252 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 35
2253 c SPN101 Spinocerebellar Ataxia 29 35
2254 c SPN095 Spinocerebellar Ataxia 19 35
2255 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
2256 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 34
2257 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 34
2258 c SPN266 Spinocerebellar Ataxia 35 34
2259 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 34
2260 c MYS075 Myasthenic Syndrome, Congenital, 13 34
2261 INF129 Infantile Cerebellar-Retinal Degeneration 33
2262 c SPN096 Spinocerebellar Ataxia 21 33
2263 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
2264 c SPN105 Spinocerebellar Ataxia 4 33
2265 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 33
2266 c SPN383 Spinocerebellar Ataxia 42 32
2267 EXD009 Exudative Vitreoretinopathy 2, X-Linked 32
2268 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 32
2269 c SPN104 Spinocerebellar Ataxia 34 31
2270 c SPN284 Spinocerebellar Ataxia 38 31
2271 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 30
2272 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 30
2273 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
2274 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 28
2275 SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 28
2276 c SPN372 Spinocerebellar Ataxia 43 27
2277 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 26
2278 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
2279 c MYS074 Myasthenic Syndrome, Congenital, 12 25
2280 c SPN420 Spinocerebellar Ataxia 46 25
2281 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
2282 c SPN427 Spinocerebellar Ataxia 48 24
2283 c MYS070 Myasthenic Syndrome, Congenital, 19 22
2284 c MYS065 Myasthenic Syndrome, Congenital, 18 22
2285 ABS003 Absence of Septum Pellucidum 17
2286 RTN010 Retinal Melanoma 9
2287 P MCR373 Mecr-Related Neurologic Disorder 7
2288 FML160 Familial Spastic Paralysis 6
2289 c ATP015 Atp1a3-Related Neurologic Disorders 3
2290 OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 3
2291 OPT022 Optic Atrophy 1 and Deafness 3
2292 WRN001 Werner Syndrome 73
2293 c MYT021 Myotonic Dystrophy 1 71
2294 DWN001 Down Syndrome 71
2295 CRB037 Cerebral Palsy 71
2296 P MCR115 Microvascular Complications of Diabetes 5 70
2297 P CHR012 Chronic Granulomatous Disease 69
2298 P CWD010 Cowden Syndrome 68
2299 SCH036 Scheie Syndrome 67
2300 c NMN015 Niemann-Pick Disease, Type C1 67
2301 LGH007 Leigh Syndrome 67
2302 NVS017 Nevus, Epidermal 66
2303 P DYS154 Dystonia 65
2304 GLC006 Galactosemia 65
2305 c MCP001 Mucopolysaccharidosis Iii 63
2306 P BRD002 Bardet-Biedl Syndrome 63
2307 c ATS013 Autosomal Recessive Congenital Ichthyosis 62
2308 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 62
2309 c MCP052 Mucopolysaccharidosis, Type Vi 61
2310 NRM019 Neuraminidase Deficiency 60
2311 P MLN069 Melanoma, Uveal 60
2312 c INS002 in Situ Carcinoma 60
2313 P NRN021 Neuronal Ceroid Lipofuscinosis 60
2314 DBT010 Diabetic Neuropathy 60
2315 c BRD014 Bardet-Biedl Syndrome 2 60
2316 c MCP004 Mucopolysaccharidosis Iv 59
2317 P EPS003 Episodic Ataxia 59
2318 c BRD010 Bardet-Biedl Syndrome 1 59
2319 c ORF040 Orofaciodigital Syndrome Viii 59
2320 c MCR113 Microvascular Complications of Diabetes 3 58
2321 c EPS042 Episodic Ataxia, Type 1 58
2322 P SPN429 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 58
2323 P OST080 Osteogenesis Imperfecta, Type Ii 58
2324 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 58
2325 c OST122 Osteogenesis Imperfecta, Type Iii 58
2326 c LYS021 Loeys-Dietz Syndrome 3 57
2327 ICH054 Ichthyosis, X-Linked 57
2328 P SHR029 Short Syndrome 57
2329 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 57
2330 c EPS035 Episodic Ataxia, Type 2 57
2331 c OST135 Osteogenesis Imperfecta, Type I 57
2332 CLS005 Clouston Syndrome 56
2333 P PLC011 Pilocytic Astrocytoma 56
2334 LKN001 Leukoencephalopathy with Vanishing White Matter 56
2335 HMN009 Hemangioblastoma 55
2336 c CHR320 Chiari Malformation Type I 55
2337 RLP001 Relapsing Polychondritis 55
2338 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 54
2339 SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 54
2340 P STS008 Sotos Syndrome 1 54
2341 P RTN022 Retinal Vein Occlusion 54
2342 P EPD009 Epidermolysis Bullosa Dystrophica 54
2343 P BRT029 Brittle Cornea Syndrome 2 54
2344 NLP001 Nail-Patella Syndrome 54
2345 ONC002 Onchocerciasis 54
2346 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 53
2347 ALL009 Allergic Conjunctivitis 53
2348 HYP691 Hypomelanosis of Ito 53
2349 VTM028 Vitamin E, Familial Isolated Deficiency of 52
2350 c MCP043 Mucopolysaccharidosis, Type Iiia 52
2351 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
2352 c CNG208 Congenital Disorder of Glycosylation, Type Iic 52
2353 PTS001 Patau Syndrome 52
2354 c MCR256 Microphthalmia, Syndromic 9 52
2355 c CCK008 Cockayne Syndrome a 51
2356 CGN006 Cogan Syndrome 51
2357 INT054 Intraocular Lymphoma 51
2358 ANC001 Ancylostomiasis 50
2359 MCL027 Macular Dystrophy, Dominant Cystoid 50
2360 PTT004 Pituitary Apoplexy 50
2361 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 50
2362 c CNT016 Central Retinal Vein Occlusion 50
2363 c HNT010 Huntington Disease-Like 1 50
2364 P ISL078 Isolated Ectopia Lentis 50
2365 OCL069 Ocular Motor Apraxia 49
2366 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 49
2367 CHR222 Chromosome 1p36 Deletion Syndrome 49
2368 INF006 Infant Botulism 49
2369 c SPN309 Spinocerebellar Ataxia 6 49
2370 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 49
2371 c OST121 Osteogenesis Imperfecta, Type Iv 49
2372 c ORF034 Orofaciodigital Syndrome Vi 49
2373 c CHR579 Chiari Malformation Type Ii 49
2374 c LYS017 Loeys-Dietz Syndrome 4 48
2375 P HRN001 Horner's Syndrome 48
2376 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
2377 JCB001 Jacobsen Syndrome 48
2378 c BRD013 Bardet-Biedl Syndrome 12 48
2379 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 48
2380 P D2H002 D-2-Hydroxyglutaric Aciduria 1 48
2381 NRR001 Neuroretinitis 47
2382 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 47
2383 RTN001 Retinal Vasculitis 47
2384 CNT019 Central Neurocytoma 47
2385 c BRD016 Bardet-Biedl Syndrome 4 47
2386 GLD006 Goldberg-Shprintzen Syndrome 47
2387 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 46
2388 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 46
2389 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 46
2390 c ATS282 Autosomal Recessive Malignant Osteopetrosis 46
2391 HMF008 Hemifacial Atrophy, Progressive 46
2392 LRN001 Laurence-Moon Syndrome 46
2393 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 46
2394 c JVN009 Juvenile Pilocytic Astrocytoma 46
2395 P CHR342 Chiari Malformation 46
2396 c MCR120 Microvascular Complications of Diabetes 7 46
2397 CHN054 Chondrodysplasia, Blomstrand Type 45
2398 DPM001 Dopamine Beta-Hydroxylase Deficiency 45
2399 RTN021 Retinal Vascular Occlusion 45
2400 PST049 Postaxial Acrofacial Dysostosis 45
2401 c HYP794 Hyperoxaluria, Primary, Type I 45
2402 c PST022 Posterior Uveal Melanoma 45
2403 BRD001 Brody Myopathy 45
2404 c LYS018 Loeys-Dietz Syndrome 2 44
2405 c MCP047 Mucopolysaccharidosis, Type Iva 44
2406 c MCP044 Mucopolysaccharidosis, Type Iiib 44
2407 P ANT088 Anterior Segment Dysgenesis 43
2408 c MCR130 Microvascular Complications of Diabetes 6 43
2409 c MCR133 Microvascular Complications of Diabetes 4 43
2410 c ANT077 Anterior Segment Dysgenesis 1 43
2411 c BRD015 Bardet-Biedl Syndrome 3 43
2412 APL002 Aplasia of Lacrimal and Salivary Glands 43
2413 c SRC023 Sarcoidosis 2 43
2414 KDS001 Kid Syndrome 43
2415 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 42
2416 P CNG436 Congenital Disorder of Deglycosylation 42
2417 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 42
2418 ABD002 Abducens Nerve Disease 42
2419 c MCR112 Microvascular Complications of Diabetes 2 42
2420 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
2421 VNC001 Von Economo's Disease 42
2422 ACT012 Acute Hemorrhagic Conjunctivitis 42
2423 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 42
2424 PRS055 Pierson Syndrome 42
2425 c USH040 Usher Syndrome, Type Id 42
2426 P OPT048 Opitz-Gbbb Syndrome 42
2427 BRT059 Bartsocas-Papas Syndrome 42
2428 P SPS133 Spastic Paraplegia 2, X-Linked 42
2429 MBM001 Meibomian Cyst 41
2430 c USH020 Usher Syndrome, Type Iic 41
2431 P MRN003 Marinesco-Sjogren Syndrome 41
2432 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 41
2433 LCR013 Lacrimal Duct Defect 41
2434 c ALB024 Albinism, Ocular, Type I 41
2435 c DSB006 Desbuquois Dysplasia 1 40
2436 P FRN036 Frontonasal Dysplasia 1 40
2437 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 40
2438 DPR002 Depersonalization Disorder 40
2439 PLS030 Plasminogen Deficiency, Type I 40
2440 BKR002 Baker-Gordon Syndrome 40
2441 c HNT011 Huntington Disease-Like 3 40
2442 ARC007 Arachnoid Cysts 39
2443 c EPS017 Episodic Ataxia, Type 6 39
2444 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 39
2445 c USH039 Usher Syndrome, Type Ic 39
2446 c STC015 Stickler Syndrome, Type I 39
2447 LYM043 Lymphocytic Hypophysitis 39
2448 c ANT086 Anterior Segment Dysgenesis 2 39
2449 HYD001 Hydranencephaly 39
2450 MKL001 Mikulicz Disease 39
2451 CRN049 Craniolenticulosutural Dysplasia 39
2452 c HYP602 Hyperoxaluria, Primary, Type Ii 38
2453 CNC014 Cancer-Associated Retinopathy 38
2454 c ADL001 Adult Lymphoma 38
2455 VBR001 Vibratory Urticaria 37
2456 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 37
2457 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 37
2458 PRK003 Parkes Weber Syndrome 37
2459 CHR410 Choroid Cancer 37
2460 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 37
2461 c PRM023 Pre-Malignant Neoplasm 37
2462 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 37
2463 MLG070 Malignant Iris Melanoma 37
2464 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 36
2465 P CLC057 Cole-Carpenter Syndrome 36
2466 DNC004 Diencephalic Syndrome 36
2467 BSM002 Bosma Arhinia Microphthalmia Syndrome 36
2468 NRS005 Neurosarcoidosis 36
2469 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 36
2470 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 35
2471 TLS001 Tolosa-Hunt Syndrome 35
2472 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 35
2473 c ADM005 Adams-Oliver Syndrome 1 35
2474 P MSC002 Muscular Dystrophy-Dystroglycanopathy 35
2475 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 35
2476 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 35
2477 P PRS013 Prosopagnosia 35
2478 P SCH017 Schindler Disease 35
2479 c MCP048 Mucopolysaccharidosis, Type Ivb 34
2480 c MCP045 Mucopolysaccharidosis, Type Iiic 34
2481 c FML294 Familial Short Qt Syndrome 34
2482 c MTC063 Mitochondrial Dna Depletion Syndrome 3 34
2483 c SCH069 Schindler Disease, Type I 34
2484 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
2485 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 34
2486 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 34
2487 MLG142 Malignant Conjunctival Melanoma 34
2488 c HYP603 Hyperoxaluria, Primary, Type Iii 33
2489 c BRT028 Brittle Cornea Syndrome 1 33
2490 PST036 Posterior Column Ataxia with Retinitis Pigmentosa 33
2491 c ORT012 Orthostatic Hypotension 2 33
2492 c EYL003 Eye Lymphoma 33
2493 c ORF038 Orofaciodigital Syndrome Iii 32
2494 OCL048 Oculoauricular Syndrome 32
2495 c HRD198 Hereditary Dystonia 32
2496 NRT011 Neurotrophic Keratopathy 32
2497 CNJ006 Conjunctival Intraepithelial Neoplasm 32
2498 LTH002 Lathosterolosis 32
2499 ATX019 Ataxia with Vitamin E Deficiency 32
2500 c GCH013 Gaucher Disease, Type Iiic 32
2501 c MCP046 Mucopolysaccharidosis, Type Iiid 32
2502 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 32
2503 P FRT001 Fourth Cranial Nerve Palsy 32
2504 c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 32
2505 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 31
2506 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
2507 c EPS037 Episodic Ataxia, Type 4 31
2508 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
2509 c SPN430 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 31
2510 c LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 31
2511 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 30
2512 c ALG016 Alagille Syndrome 2 30
2513 WND001 Wound Botulism 30
2514 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 30
2515 BRN062 Burn-Mckeown Syndrome 30
2516 P ALB023 Albinism, Ocular, with Sensorineural Deafness 30
2517 PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 30
2518 c EPS015 Episodic Ataxia, Type 7 30
2519 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
2520 c CCK003 Cockayne Syndrome Type Ii 29
2521 c CRN134 Cornelia De Lange Syndrome 2 29
2522 JBR007 Joubert Syndrome with Renal Anomalies 29
2523 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 29
2524 c ANT084 Anterior Segment Dysgenesis 3 29
2525 c ADM010 Adams-Oliver Syndrome 5 29
2526 c ADM007 Adams-Oliver Syndrome 2 29
2527 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 29
2528 FML292 Familial Drusen 29
2529 IVC001 Ivic Syndrome 28
2530 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 28
2531 CRN021 Cornea Cancer 28
2532 c JBR026 Joubert Syndrome 15 28
2533 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 28
2534 c CNG133 Congenital Varicella Syndrome 28
2535 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 28
2536 CLF045 Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 28
2537 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 28
2538 BLD161 Blood Group, Globoside System 28
2539 LGH013 Leigh Syndrome with Cardiomyopathy 27
2540 c DYS162 Dystonia, Juvenile-Onset 27
2541 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 27
2542 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 27
2543 BYL001 Baylisascariasis 27
2544 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 27
2545 CNJ009 Conjunctival Cancer 27
2546 CRN045 Corneal Dystrophy and Perceptive Deafness 27
2547 CYS045 Cystinosis, Adult Nonnephropathic 26
2548 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 26
2549 HYP643 Hypohidrotic Ectodermal Dysplasia with Immunodeficiency 26
2550 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 26
2551 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 26
2552 MLG061 Malignant Choroid Melanoma 26
2553 c CRN110 Cranioectodermal Dysplasia 3 26
2554 c CRN111 Cranioectodermal Dysplasia 4 26
2555 c JBR011 Joubert Syndrome 7 26
2556 MLN046 Melanoma-Associated Retinopathy 26
2557 c LKD022 Leukodystrophy, Hypomyelinating, 13 26
2558 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 26
2559 P PRM227 Primary Orthostatic Hypotension 25
2560 DFN256 Deafness and Myopia 25
2561 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 25
2562 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 25
2563 c PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 25
2564 P HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 25
2565 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 25
2566 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 25
2567 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 25
2568 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 25
2569 c EPS014 Episodic Ataxia, Type 3 25
2570 DYS096 Dyskeratosis, Hereditary Benign Intraepithelial 25
2571 P INT006 Intestinal Botulism 24
2572 SLW006 Saul-Wilson Syndrome 24
2573 c GZP005 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 1 24
2574 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 24
2575 RTN179 Retinal Arteries, Tortuosity of 24
2576 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
2577 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 24
2578 EDC001 Edict Syndrome 24
2579 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 24
2580 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 24
2581 CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 24
2582 c MTC129 Mitochondrial Dna Depletion Syndrome 15 24
2583 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 24
2584 c MCK026 Meckel Syndrome 12 24
2585 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 24
2586 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 23
2587 SPN047 Spindle Cell Intraocular Melanoma 23
2588 c JBR035 Joubert Syndrome 24 23
2589 LKN017 Leukoencephalopathy with Ataxia 23
2590 c CLC056 Cole-Carpenter Syndrome 1 23
2591 BRW002 Brown's Tendon Sheath Syndrome 23
2592 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 23
2593 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 23
2594 c NLX003 Neu-Laxova Syndrome 2 23
2595 c CNR041 Cone-Rod Dystrophy and Hearing Loss 2 23
2596 P CNR040 Cone-Rod Dystrophy and Hearing Loss 1 23
2597 c EPS034 Episodic Ataxia, Type 5 23
2598 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 23
2599 PTR030 Pterygium of Conjunctiva and Cornea 22
2600 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 22
2601 c MTC126 Mitochondrial Dna Depletion Syndrome 14 22
2602 c ADM009 Adams-Oliver Syndrome 4 22
2603 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
2604 c ADM012 Adams-Oliver Syndrome 6 22
2605 c ADM008 Adams-Oliver Syndrome 3 22
2606 RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 22
2607 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 22
2608 ATX037 Ataxia-Deafness-Retardation Syndrome 21
2609 PRT015 Partial Third-Nerve Palsy 21
2610 NRD031 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 21
2611 c SNR016 Senior-Loken Syndrome 9 21
2612 c JBR036 Joubert Syndrome 25 21
2613 MYC075 Myoclonus, Intractable, Neonatal 21
2614 JBR046 Jaberi-Elahi Syndrome 21
2615 c EPS033 Episodic Ataxia, Type 8 20
2616 YHV001 You-Hoover-Fong Syndrome 20
2617 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 20
2618 CRM007 Crome Syndrome 20
2619 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 20
2620 LYM123 Lymphedema-Hypoparathyroidism Syndrome 20
2621 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 20
2622 ALG026 Al-Gazali Syndrome 20
2623 GRN016 Grant Syndrome 20
2624 c SNR005 Senior-Loken Syndrome 5 20
2625 RRS002 Rare Isolated Myopia 20
2626 HRS003 Hirschsprung Disease Ganglioneuroblastoma 20
2627 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 19
2628 BRK013 Birk-Landau-Perez Syndrome 19
2629 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 19
2630 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 19
2631 c D2H003 D-2-Hydroxyglutaric Aciduria 2 19
2632 ANR043 Aniridia and Absent Patella 19
2633 c ADL069 Adult Intestinal Botulism 19
2634 LCR012 Lacrimal System Cancer 19
2635 BRN125 Branchiogenic-Deafness Syndrome 19
2636 c ATS072 Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 19
2637 c DNR004 Duane Retraction Syndrome 2 19
2638 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 19
2639 SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 18
2640 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
2641 LGH017 Leigh Syndrome with Nephrotic Syndrome 18
2642 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 18
2643 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 18
2644 c SPN432 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 18
2645 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 17
2646 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 17
2647 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17
2648 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 17
2649 RTN211 Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract 17
2650 EPD051 Epidermolysis Bullosa Simplex with Anodontia/hypodontia 17
2651 MCR078 Microphthalmia Microtia Fetal Akinesia 17
2652 CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 17
2653 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 17
2654 CTR154 Cataract, Aberrant Oral Frenula, and Growth Retardation 17
2655 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 17
2656 ACT235 Acute Macular Neuroretinopathy 17
2657 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 16
2658 XLN211 X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome 16
2659 MLG062 Malignant Ciliary Body Melanoma 16
2660 OST058 Osteopoikilosis and Dacryocystitis 16
2661 CRN069 Corneal Hypesthesia, Familial 15
2662 CNG457 Congenital Oculomotor Nerve Palsy 15
2663 VSC048 Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome 15
2664 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 14
2665 THM020 Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 14
2666 CLB032 Coloboma of Macula and Skeletal Anomalies 14
2667 PST054 Postinfectious Encephalomyelitis 14
2668 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 13
2669 CTR153 Cataract-Deafness-Hypogonadism Syndrome 13
2670 c MLN039 Melanoma, Uveal 1