Eye Diseases Category (2445 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 52
3 LBR002 Leber Hereditary Optic Neuropathy 57
4 c OPT068 Optic Atrophy 3, Autosomal Dominant 32
5 P NRM001 Neuromyelitis Optica 65
6 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 59
7 c 3MT015 3-Methylglutaconic Aciduria, Type I 44
8 c 3MT014 3-Methylglutaconic Aciduria, Type V 41
9 P 3MT007 3-Methylglutaconic Aciduria 37
10 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
11 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 27
12 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 18
13 LBR031 Leber Optic Atrophy and Dystonia 43
14 OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 28
15 NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 58
16 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 25
17 CLB003 Coloboma of Optic Nerve 41
18 OPT006 Optic Nerve Disease 57
19 CLR033 Color Vision Deficiency 40
20 SPT006 Septooptic Dysplasia 52
21 SPT019 Septo-Optic Dysplasia Spectrum 28
22 OLV004 Oliver-Mcfarlane Syndrome 32
23 c FVL008 Foveal Hypoplasia 2 23
24 P FVL006 Foveal Hypoplasia 1 23
25 CRB058 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 21
26 P OPT070 Optic Nerve Hypoplasia, Bilateral 43
27 c OPT023 Optic Atrophy 2 22
28 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 44
29 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 38
30 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
31 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 35
32 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 27
33 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
34 OPT001 Optic Disk Drusen 31
35 P WLF004 Wolfram Syndrome 61
36 c MCR124 Microphthalmia, Isolated 1 36
37 c WLF009 Wolfram Syndrome 2 34
38 P MCR122 Microphthalmia, Isolated 5 31
39 c MCR211 Microphthalmia, Isolated 6 31
40 c MCR137 Microphthalmia, Isolated 2 22
41 c MCR109 Microphthalmia, Isolated 4 21
42 c MCR219 Microphthalmia, Isolated 8 21
43 c MCR114 Microphthalmia, Isolated 3 21
44 c MCR108 Microphthalmia, Isolated 7 17
45 EYL005 Eyelid Disease 40
46 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 20
47 LBR030 Leber Optic Atrophy 40
48 SCH038 Schopf-Schulz-Passarge Syndrome 30
49 BHR001 Behr Syndrome 36
50 SPS061 Spastic Paraplegia, Optic Atrophy, and Neuropathy 34
51 TRC055 Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina 15
52 EYL001 Eyelid Neoplasm 31
53 P BLP003 Blepharospasm 46
54 P CLB034 Coloboma, Ocular, Autosomal Dominant 45
55 c BLP048 Blepharospasm, Benign Essential 36
56 GPS001 Gapo Syndrome 36
57 P PHS005 Peho Syndrome 35
58 SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 28
59 c CLB022 Coloboma, Ocular, Autosomal Recessive 21
60 OPT071 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 16
61 P AGN002 Agnosia 61
62 OPT009 Optic Neuritis 53
63 BSC005 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 33
64 CRB159 Cerebral Visual Impairment 29
65 ICH066 Ichthyosis--Cheek--Eyebrow Syndrome 17
66 c FRM002 Form Agnosia 14
67 c WLF013 Wolfram Syndrome 1 51
68 c NRM008 Neuromyelitis Optica Spectrum Disorder 30
69 OPT005 Optic Nerve Astrocytoma 10
70 RTN017 Retinal Detachment 58
71 TRT020 Tritanopia 44
72 CHS002 Chiasmal Syndrome 35
73 c OPT064 Optic Atrophy 11 24
74 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 22
75 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 18
76 FLC002 Fleck Retina, Familial Benign 17
77 ADT008 Auditory Neuropathy and Optic Atrophy 17
78 P RTN016 Retinal Degeneration 54
79 P CLR019 Color Blindness 48
80 ISC002 Ischemic Optic Neuropathy 47
81 VSL003 Visual Agnosia 40
82 c LTN004 Late-Onset Retinal Degeneration 40
83 VSL002 Visual Epilepsy 30
84 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 27
85 CHL024 Childhood Optic Nerve Glioma 18
86 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 17
87 VSL004 Visual Cortex Disease 17
88 c OPT024 Optic Atrophy 5 17
89 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 16
90 VSL012 Visual Snow Syndrome 12
91 HYP742 Hyperpigmentation of Eyelids 11
92 SHR049 Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome 8
93 VNS001 Venous Tributary Occlusion of Retina 6
94 CHL023 Childhood Optic Tract Astrocytoma 6
95 SCT002 Scotoma 41
96 TRC077 Trichomegaly 39
97 OPT002 Optic Nerve Sheath Meningioma 31
98 P HRD022 Hordeolum 29
99 OPT010 Optic Papillitis 29
100 OPT032 Optic Pathway Glioma 29
101 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 26
102 CVT001 Cavitary Optic Disc Anomalies 25
103 c OPT060 Optic Atrophy 8 21
104 SPL058 Splenomegaly, Cytopenia, and Vision Loss 17
105 c INT047 Internal Hordeolum 14
106 CHR675 Chronic Relapsing Inflammatory Optic Neuropathy 12
107 BNC002 Binocular Vision Disease 12
108 RTN018 Retinal Disease 56
109 FST001 Foster-Kennedy Syndrome 23
110 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 22
111 CMB069 Combined Hamartoma of the Retina and Retinal Pigment Epithelium 21
112 VSL005 Visual Pathway Disease 20
113 c OPT065 Optic Atrophy 9 20
114 BLN017 Balint Syndrome 16
115 c ACQ001 Acquired Color Blindness 14
116 SHR097 Short Tarsus with Absence of Lower Eyelashes 14
117 FLC004 Fleck Retina of Kandori 12
118 CNG395 Congenital Retinal Arteriovenous Communication 12
119 c OPT059 Optic Atrophy 4 12
120 ATS326 Autosomal Recessive Isolated Optic Atrophy 11
121 GLC005 Glaucomatous Atrophy of Optic Disc 10
122 MLG010 Malignant Eyelid Melanoma 9
123 ATM073 Autoimmune-Related Retinopathy and Optic Neuropathy 8
124 ALL005 Allergic Contact Dermatitis of Eyelid 8
125 NNN006 Noninfectious Dermatoses of Eyelid 7
126 ANT020 Anterior Optic Tract Meningioma 7
127 PRS018 Parasitic Eyelid Infestation 7
128 CRT010 Crater-Like Holes of Optic Disc 6
129 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 6
130 BLT005 Bilateral Meningioma of Optic Nerve 6
131 CLB012 Coloboma of Optic Papilla 3
132 GRW009 Growth Retardation Alopecia Pseudoanodontia Optic 2
133 P ENC018 Encephalopathy 62
134 PSD008 Pseudopapilledema 37
135 3MC001 3mc Syndrome 2 30
136 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 27
137 CMB047 Combined Oxidative Phosphorylation Deficiency 18 20
138 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 20
139 HRL006 Harel-Yoon Syndrome 20
140 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 19
141 P MYP006 Myopia 56
142 P PTS002 Ptosis 53
143 ECT005 Ectropion 46
144 c CNG513 Congenital Ptosis 35
145 c PHL010 Peho-Like Syndrome 23
146 c MYP127 Myopia 2, Autosomal Dominant 20
147 c MYP018 Myopia 6 20
148 c PTS010 Ptosis, Hereditary Congenital 2 20
149 c MYP140 Myopia 17, Autosomal Dominant 19
150 c MYP074 Myopia 23, Autosomal Recessive 18
151 c MYP138 Myopia 3, Autosomal Dominant 17
152 c MYP070 Myopia 21, Autosomal Dominant 17
153 c MYP141 Myopia 5, Autosomal Dominant 17
154 c MYP146 Myopia 15, Autosomal Dominant 17
155 c MYP075 Myopia 22, Autosomal Dominant 17
156 c MYP133 Myopia 18, Autosomal Recessive 16
157 c MYP090 Myopia 24, Autosomal Dominant 16
158 GRP007 Grouped Pigmentation of the Retina 15
159 c MYP147 Myopia 19, Autosomal Dominant 15
160 c PTS018 Ptosis, Hereditary Congenital 1 15
161 JVN026 Jeavons Syndrome 15
162 c MYP040 Myopia 7 15
163 c MYP041 Myopia 8 15
164 c MYP048 Myopia 9 15
165 c MYP044 Myopia 10 15
166 c MYP117 Myopia 25, Autosomal Dominant 15
167 c MYP143 Myopia 11, Autosomal Dominant 14
168 c MYP144 Myopia 12, Autosomal Dominant 14
169 c MYP145 Myopia 16, Autosomal Dominant 14
170 c MYP069 Myopia 14 13
171 c MYP084 Myopia 20, Autosomal Dominant 12
172 c FRS014 Fraser Syndrome 1 51
173 KHN001 Kuhnt-Junius Degeneration 40
174 PRR004 Preretinal Fibrosis 35
175 DST033 Distichiasis 35
176 SPN033 Spontaneous Ocular Nystagmus 33
177 DGN003 Degeneration of Macula and Posterior Pole 32
178 ART110 Arteritic Anterior Ischemic Optic Neuropathy 31
179 PRP026 Peripheral Retinal Degeneration 29
180 TXC008 Toxic Optic Neuropathy 24
181 ISL119 Isolated Optic Neuritis 24
182 P PRM016 Primary Optic Atrophy 23
183 P TXC009 Toxic Maculopathy 19
184 CLB018 Coloboma of Eyelid 19
185 c FRS015 Fraser Syndrome 3 17
186 APR010 Apraxia of Eyelid Opening 17
187 OPT076 Optic Perineuritis 16
188 c FRS016 Fraser Syndrome 2 15
189 WLF014 Wolfram Syndrome, Mitochondrial Form 15
190 VSP001 Vasoproliferative Tumor of the Retina 14
191 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 14
192 NTR002 Nutritional Optic Neuropathy 14
193 PSD005 Pseudoretinitis Pigmentosa 13
194 P FRS017 Fraser-Like Syndrome 13
195 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 13
196 BLS004 Blessig's Cysts 11
197 CHL133 Cholestasis with Gallstone, Ataxia, and Visual Disturbance 11
198 SPT020 Spatial Visualization, Aptitude for 11
199 TNT001 Tented Eyebrows 11
200 NRP050 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 10
201 PRT024 Partial Optic Atrophy 10
202 OPT072 Opticocochleodentate Degeneration 10
203 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 10
204 OPT029 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 10
205 RTN005 Retinal Lattice Degeneration 10
206 VSL001 Visual Verbal Agnosia 9
207 FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 9
208 OPT067 Optic Atrophy with Demyelinating Disease of Cns 9
209 HLR003 Hole Retinal Cyst 9
210 OPT069 Optic Atrophy with Negative Electroretinograms 9
211 MYL068 Myelinated Optic Nerve Fibers 9
212 OPT073 Optic Atrophy--Spastic Paraplegia Syndrome 9
213 LTT009 Lattice Degeneration of Retina Leading to Retinal Detachment 8
214 CBB001 Cobblestone Retinal Degeneration 8
215 HYP046 Hypopigmentation of Eyelid 7
216 CYS012 Cystoid Macular Retinal Degeneration 7
217 SNL002 Senile Reticular Retinal Degeneration 7
218 TRS032 Tristichiasis 7
219 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 7
220 CNG355 Congenital Eyelid Retraction 6
221 HYP044 Hypotrichosis of Eyelid 6
222 EYL004 Eyelid Degenerative Disease 6
223 ECZ001 Eczematous Dermatitis of Eyelid 6
224 HYP045 Hypertrichosis of Eyelid 6
225 XRD002 Xeroderma of Eyelid 6
226 CLB023 Coloboma of Inferior Eyelid 6
227 EYB006 Eyebrow, Whorl in 6
228 PRP004 Peripheral Scars of Retina 6
229 c TXC018 Toxic Maculopathy Due to Antimalarial Drugs 6
230 DSC002 Discoid Lupus Erythematosus of Eyelid 5
231 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
232 CLB024 Coloboma of Superior Eyelid 5
233 SPS224 Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal 4
234 ECC013 Eccrine Syringofibroadenomatosis with Eyelid Abnormalities 3
235 VSL006 Visual Pathway and Hypothalamic Glioma, Childhood 2
236 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
237 c HRD010 Hereditary Spastic Paraplegia 67
238 P CNJ013 Conjunctivitis 63
239 P CTS001 Cutis Laxa 62
240 VTR013 Vitreoretinopathy, Neovascular Inflammatory 61
241 P UVT001 Uveitis 60
242 P CTR002 Cataract 60
243 P OCL002 Oculocutaneous Albinism 58
244 c GLC092 Glaucoma, Primary Open Angle 57
245 P ACH003 Achromatopsia 56
246 STR020 Strabismus 56
247 KRT006 Keratoconjunctivitis 55
248 EXF001 Exfoliation Syndrome 55
249 P CNG010 Congenital Stationary Night Blindness 55
250 c INT064 Intermediate Uveitis 55
251 P INF016 Infantile Epileptic Encephalopathy 54
252 RTN209 Retinoschisis 1, X-Linked, Juvenile 53
253 FND001 Fundus Albipunctatus 53
254 OCL006 Ocular Hypertension 53
255 c NGH026 Night Blindness, Congenital Stationary, Type 1a 52
256 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 52
257 c INV001 Invasive Aspergillosis 52
258 P PNV001 Panuveitis 52
259 DRY001 Dry Eye Syndrome 51
260 EXP004 Exophthalmos 51
261 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 51
262 MCL006 Macular Retinal Edema 51
263 CRN027 Corneal Neovascularization 51
264 P NGH001 Night Blindness 51
265 P OPN001 Open-Angle Glaucoma 51
266 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 51
267 P END047 Endophthalmitis 50
268 STR072 Stromal Keratitis 50
269 RTN023 Retinitis 50
270 P MCP040 Mucopolysaccharidosis-Plus Syndrome 50
271 c ANT034 Anterior Uveitis 50
272 c RTN162 Retinitis Pigmentosa 2 50
273 RTN003 Retinal Ischemia 50
274 c LBR014 Leber Congenital Amaurosis 4 49
275 c PST005 Posterior Uveitis 49
276 AST006 Astigmatism 49
277 FND002 Fundus Dystrophy 49
278 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 48
279 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 48
280 CNJ012 Conjunctival Disease 48
281 DBT006 Diabetic Macular Edema 48
282 NVS001 Neovascular Glaucoma 48
283 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47
284 AMB002 Amblyopia 47
285 P SDR002 Siderosis 47
286 c MYS051 Myasthenic Syndrome, Congenital, 5 47
287 P CRN028 Corneal Ulcer 47
288 CRN024 Corneal Disease 47
289 c OPT051 Opitz Gbbb Syndrome, Type I 47
290 P OCL001 Ocular Albinism 46
291 c LBR012 Leber Congenital Amaurosis 2 46
292 c MCR256 Microphthalmia, Syndromic 9 46
293 ENH001 Enhanced S-Cone Syndrome 46
294 P RTN014 Retinal Artery Occlusion 46
295 P HRN001 Horner's Syndrome 46
296 P GLL032 Galloway-Mowat Syndrome 46
297 c USH021 Usher Syndrome, Type Iid 46
298 c USH035 Usher Syndrome Type 2 45
299 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 45
300 BLL004 Bullous Keratopathy 45
301 c LKD010 Leukodystrophy, Hypomyelinating, 2 45
302 END072 Endotheliitis 45
303 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 45
304 MCL003 Macular Holes 44
305 RFR003 Refractive Error 44
306 LCR008 Lacrimal Apparatus Disease 44
307 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 44
308 ATP013 Atopic Keratoconjunctivitis 44
309 c USH037 Usher Syndrome, Type Iia 44
310 c MCP047 Mucopolysaccharidosis, Type Iva 44
311 c LKD015 Leukodystrophy, Hypomyelinating, 3 44
312 IRD001 Iridocyclitis 43
313 P CRN026 Corneal Edema 43
314 KRT008 Keratopathy 43
315 c CHR095 Chronic Progressive External Ophthalmoplegia 43
316 P DNR001 Duane Retraction Syndrome 43
317 BLP005 Blepharitis 43
318 P VTL001 Vitelliform Macular Dystrophy 42
319 SYM002 Sympathetic Ophthalmia 42
320 c ANT077 Anterior Segment Dysgenesis 1 42
321 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 42
322 PRM024 Primary Angle-Closure Glaucoma 42
323 EXT022 Exotropia 42
324 c MCL066 Macular Dystrophy, Vitelliform, 2 42
325 c ACH021 Achromatopsia 3 42
326 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42
327 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 41
328 c LKD019 Leukodystrophy, Hypomyelinating, 6 41
329 CRN241 Corneal Dystrophy, Congenital Stromal 41
330 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
331 c OPT050 Opitz Gbbb Syndrome, Type Ii 41
332 P JVN008 Juvenile Glaucoma 41
333 c CTR130 Cataract 9, Multiple Types 41
334 c USH040 Usher Syndrome, Type Id 41
335 c USH039 Usher Syndrome, Type Ic 41
336 CHR386 Chromosome 6pter-P24 Deletion Syndrome 40
337 SNL007 Senile Cataract 40
338 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40
339 CRN025 Corneal Dystrophy 40
340 ARC023 Arcus Corneae 40
341 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
342 c RTN058 Retinitis Pigmentosa 3 40
343 VTR005 Vitreous Disease 40
344 c RTN160 Retinitis Pigmentosa 60 40
345 c MYS078 Myasthenic Syndrome, Congenital, 14 40
346 CRN285 Corneal Dystrophy, Fleck 40
347 P CNG024 Congenital Nystagmus 40
348 c ACH020 Achromatopsia 2 40
349 c CNT028 Central Retinal Artery Occlusion 40
350 c RTN143 Retinitis Pigmentosa 47 40
351 c USH020 Usher Syndrome, Type Iic 40
352 c MCR261 Microphthalmia, Syndromic 2 39
353 c LBR019 Leber Congenital Amaurosis 9 39
354 c RTN043 Retinitis Pigmentosa 13 39
355 INT042 Internuclear Ophthalmoplegia 39
356 LNS003 Lens Disease 39
357 c RTN172 Retinitis Pigmentosa 1 39
358 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 39
359 OCL010 Ocular Hypotension 39
360 BLT001 Bilateral Retinoblastoma 39
361 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
362 ACT011 Acute Contagious Conjunctivitis 38
363 CNJ007 Conjunctivochalasis 38
364 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
365 c LBR004 Leber Congenital Amaurosis 1 38
366 c ANT023 Anterior Scleritis 38
367 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 38
368 MRN002 Mooren's Ulcer 38
369 c RTN177 Retinitis Pigmentosa 73 38
370 c ALB024 Albinism, Ocular, Type I 38
371 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 38
372 RBS002 Rubeosis Iridis 38
373 HYP084 Hypopyon 38
374 VRN001 Vernal Conjunctivitis 38
375 c CHR086 Chronic Conjunctivitis 38
376 c MCL060 Macular Dystrophy, Vitelliform, 3 38
377 RTN013 Retinal Hemangioblastoma 38
378 c RTN142 Retinitis Pigmentosa 38 38
379 c ATS393 Autosomal Recessive Cutis Laxa Type I 38
380 CHR079 Choroid Disease 38
381 P ANT088 Anterior Segment Dysgenesis 38
382 c CTR115 Cataract 16, Multiple Types 38
383 BLP006 Blepharoconjunctivitis 37
384 c GLL038 Galloway-Mowat Syndrome 1 37
385 c LKD008 Leukodystrophy, Hypomyelinating, 4 37
386 c RTN069 Retinitis Pigmentosa 7 37
387 RCR001 Recurrent Corneal Erosion 37
388 ORB013 Orbital Disease 37
389 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 37
390 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 37
391 c MYS052 Myasthenic Syndrome, Congenital, 10 37
392 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
393 MYP139 Myopathy, Proximal, and Ophthalmoplegia 37
394 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 37
395 c MNS014 Monosomy 22 37
396 VTR003 Vitreous Detachment 37
397 PPL019 Papillary Conjunctivitis 37
398 HYP008 Hypertensive Retinopathy 37
399 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 37
400 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
401 c ANT071 Anterior Segment Dysgenesis 4 37
402 c CTR118 Cataract 14, Multiple Types 37
403 c CTS045 Cutis Laxa, Autosomal Dominant 1 37
404 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 37
405 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 37
406 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 37
407 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 37
408 c RTN048 Retinitis Pigmentosa 19 36
409 IRT001 Iritis 36
410 c ACT037 Acute Dacryocystitis 36
411 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 36
412 CRT012 Cortical Blindness 36
413 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
414 EXC003 Excessive Tearing 36
415 c PRM032 Primary Congenital Glaucoma 36
416 c RTN050 Retinitis Pigmentosa 20 36
417 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 36
418 PRS025 Presbyopia 36
419 c USH042 Usher Syndrome, Type Ig 36
420 BCK003 Background Diabetic Retinopathy 36
421 c CTR129 Cataract 31, Multiple Types 36
422 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 36
423 c CTR170 Cataract 30, Multiple Types 36
424 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 36
425 c MCP051 Mucopolysaccharidosis, Type Ix 36
426 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 36
427 c USH041 Usher Syndrome, Type if 36
428 c BCT006 Bacterial Conjunctivitis 36
429 XRP001 Xerophthalmia 36
430 c KNB006 Knobloch Syndrome 1 36
431 c HRD015 Hereditary Night Blindness 35
432 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
433 c GLC083 Glaucoma 3, Primary Infantile, B 35
434 BLP001 Blepharochalasis 35
435 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 35
436 c ATS076 Autosomal Recessive Stickler Syndrome 35
437 LGH012 Leigh Syndrome with Leukodystrophy 35
438 RTN002 Retinal Perforation 35
439 HRP025 Herpes Simplex Virus Keratitis 35
440 c PST008 Posterior Scleritis 35
441 CRN274 Corneal Dystrophy, Posterior Amorphous 35
442 PNG001 Pinguecula 35
443 ANG004 Angioid Streaks 35
444 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 35
445 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 35
446 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
447 c CTR098 Cataract 1, Multiple Types 35
448 c LBR007 Leber Congenital Amaurosis 12 35
449 c RTN186 Retinitis Pigmentosa 75 35
450 EPT021 Epithelial Recurrent Erosion Dystrophy 35
451 P VTR010 Vitreoretinochoroidopathy 34
452 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
453 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
454 ENT005 Entropion 34
455 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 34
456 c RTN055 Retinitis Pigmentosa 26 34
457 LWT001 Low Tension Glaucoma 34
458 CLR133 Colorblindness, Partial, Protan Series 34
459 c DNR003 Duane Retraction Syndrome 1 34
460 c ANT086 Anterior Segment Dysgenesis 2 34
461 c RTN165 Retinitis Pigmentosa 68 34
462 PTH003 Pathologic Nystagmus 34
463 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 34
464 INT082 Intraocular Retinoblastoma 34
465 EPT025 Epithelial Basement Membrane Dystrophy 34
466 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
467 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 34
468 c RTN149 Retinitis Pigmentosa 42 34
469 CHR382 Chromosome 18q Deletion Syndrome 34
470 SVR002 Severe Nonproliferative Diabetic Retinopathy 34
471 OCL004 Ocular Hyperemia 34
472 PHT002 Photokeratitis 34
473 c LBR011 Leber Congenital Amaurosis 16 34
474 SPN331 Spondyloocular Syndrome 33
475 LCR001 Lacrimal Duct Obstruction 33
476 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 33
477 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 33
478 c RTN090 Retinitis Pigmentosa 55 33
479 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 33
480 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
481 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 33
482 c PRP091 Porphyria Cutanea Tarda, Type I 33
483 AST003 Asthenopia 33
484 c CTR141 Cataract 21, Multiple Types 33
485 c RTN136 Retinitis Pigmentosa 44 33
486 UNL002 Unilateral Retinoblastoma 33
487 P DCR003 Dacryoadenitis 33
488 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 33
489 FLM001 Filamentary Keratitis 33
490 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 33
491 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 33
492 END034 Endocrine Exophthalmos 33
493 IRS003 Iris Disease 33
494 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
495 c RTN133 Retinitis Pigmentosa 43 33
496 OCC002 Occult Macular Dystrophy 33
497 CRN288 Corneal Dystrophy, Band-Shaped 33
498 P BST001 Bestrophinopathy 33
499 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 32
500 c RTN131 Retinitis Pigmentosa 27 32
501 CRN273 Corneal Dystrophy, Subepithelial Mucinous 32
502 c ACH023 Achromatopsia 4 32
503 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
504 c CTR122 Cataract 5, Multiple Types 32
505 SCL014 Scleral Staphyloma 32
506 P KNB001 Knobloch Syndrome 32
507 HRD016 Hereditary Retinal Dystrophy 32
508 c MYS075 Myasthenic Syndrome, Congenital, 13 32
509 c RTN210 Retinitis Pigmentosa 50 32
510 ANS004 Anisometropia 32
511 DGN002 Degenerative Myopia 32
512 DBT007 Diabetic Cataract 32
513 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 32
514 c RTN062 Retinitis Pigmentosa 33 32
515 ISL062 Isolated Plagiocephaly 32
516 c RTN051 Retinitis Pigmentosa 22 31
517 c CTR125 Cataract 7 31
518 GLC001 Glaucomatocyclitic Crisis 31
519 c RTN134 Retinitis Pigmentosa 40 31
520 CHR077 Chorioretinal Scar 31
521 c WLL036 Weill-Marchesani Syndrome 1 31
522 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 31
523 LKC002 Leukocoria 31
524 BYL001 Baylisascariasis 31
525 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
526 c CTR145 Cataract 44 31
527 c RTN041 Retinitis Pigmentosa 11 31
528 PRL014 Paralytic Squint 31
529 P HYP700 Hypomyelinating Leukodystrophy 31
530 RDG001 Red-Green Color Blindness 31
531 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 31
532 PLM007 Pulmonary Aspergilloma 31
533 c RTN116 Retinitis Pigmentosa 56 31
534 c NGH007 Night Blindness, Congenital Stationary, Type 1b 31
535 c LBR005 Leber Congenital Amaurosis 10 31
536 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
537 c CTR103 Cataract 4, Multiple Types 31
538 c RTN044 Retinitis Pigmentosa 14 31
539 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
540 c SPS031 Spastic Paraplegia 23 31
541 c CTR158 Cataract 37 31
542 c LBR013 Leber Congenital Amaurosis 3 31
543 c RTN056 Retinitis Pigmentosa 28 31
544 c ACT067 Acute Conjunctivitis 31
545 c NNS043 Nonsyndromic Retinitis Pigmentosa 31
546 HYP048 Hypotropia 30
547 c RTN171 Retinitis Pigmentosa 59 30
548 P CRN249 Cornea Plana 30
549 c RTN150 Retinitis Pigmentosa 10 30
550 SCL013 Scleral Disease 30
551 CNJ001 Conjugate Gaze Palsy 30
552 c LBR018 Leber Congenital Amaurosis 8 30
553 P SPS012 Spastic Paraplegia 3a 30
554 c RTN047 Retinitis Pigmentosa 18 30
555 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 30
556 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
557 c NGH025 Night Blindness, Congenital Stationary, Type 2a 30
558 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
559 CNG005 Congenital Aphakia 30
560 EXP002 Exposure Keratitis 30
561 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 30
562 c RTN068 Retinitis Pigmentosa 6 30
563 PNC012 Punctate Epithelial Keratoconjunctivitis 30
564 STR019 Steroid-Induced Glaucoma 30
565 ORB008 Orbital Plasma Cell Granuloma 30
566 c RTN152 Retinitis Pigmentosa 66 29
567 c RTN042 Retinitis Pigmentosa 12 29
568 DSS006 Disuse Amblyopia 29
569 c ALB019 Albinism, Oculocutaneous, Type Iv 29
570 STR086 Stromal Dystrophy 29
571 c CTR095 Cataract 8, Multiple Types 29
572 INT065 Interstitial Keratitis 29
573 P DCR004 Dacryocystitis 29
574 c WLL037 Weill-Marchesani Syndrome 2 29
575 BSL037 Basal Laminar Drusen 29
576 HYP047 Hypertropia 29
577 CYC001 Cycloplegia 29
578 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
579 HYD007 Hydrophthalmos 29
580 P VTR008 Vitreoretinal Degeneration 29
581 c BST008 Bestrophinopathy, Autosomal Recessive 29
582 ENP001 Enophthalmos 29
583 c ACQ027 Acquired Cutis Laxa 29
584 LNS001 Lens Subluxation 29
585 IMM002 Immature Cataract 29
586 c CTR096 Cataract 6, Multiple Types 29
587 RTN006 Retinal Drusen 29
588 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 29
589 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 29
590 c RBN008 Rubinstein-Taybi Syndrome 2 29
591 ORB006 Orbital Cellulitis 29
592 SVN002 Sveinsson Chorioretinal Atrophy 29
593 c CTR102 Cataract 2, Multiple Types 28
594 SHP001 Shipyard Eye 28
595 MGL003 Megalocornea 28
596 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
597 SPS002 Spastic Entropion 28
598 MKL001 Mikulicz Disease 28
599 c MTC074 Metachromatic Leukodystrophy, Adult Form 28
600 c USH031 Usher Syndrome, Type Ij 28
601 c GLC041 Glaucoma 1, Open Angle, a 28
602 P ACT028 Acute Closed-Angle Glaucoma 28
603 c CTR175 Cataract 24 28
604 CRN022 Corneal Degeneration 28
605 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 28
606 c RTN066 Retinitis Pigmentosa 4 28
607 c NGH029 Night Blindness, Congenital Stationary, Type 1e 28
608 c CTR132 Cataract 3, Multiple Types 28
609 c ALB015 Albinism, Oculocutaneous, Type V 28
610 LRY022 Laryngoonychocutaneous Syndrome 28
611 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
612 LGP001 Lagophthalmos 28
613 P PRS124 Presynaptic Congenital Myasthenic Syndromes 28
614 c RTN070 Retinitis Pigmentosa 9 28
615 c CHR054 Chronic Closed-Angle Glaucoma 28
616 c ACT047 Acute Endophthalmitis 28
617 c RTN052 Retinitis Pigmentosa 23 28
618 c LBR016 Leber Congenital Amaurosis 6 28
619 c INF122 Infantile Krabbe Disease 28
620 c CTR121 Cataract 25 28
621 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
622 c RTN064 Retinitis Pigmentosa 35 28
623 c MCL070 Macular Dystrophy, Patterned, 3 28
624 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28
625 P SPN202 Spinocerebellar Ataxia, X-Linked 1 28
626 IRR001 Irregular Astigmatism 28
627 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 28
628 CLS047 Classic Progressive Supranuclear Palsy Syndrome 28
629 c CHR093 Chronic Orbital Inflammation 28
630 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
631 CNR014 Cone-Rod Dystrophy 16 28
632 c USH030 Usher Syndrome, Type Ik 28
633 ORB007 Orbital Cyst 28
634 CHR053 Chronic Follicular Conjunctivitis 28
635 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
636 c RTN046 Retinitis Pigmentosa 17 27
637 c ERL012 Early-Onset Glaucoma 27
638 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
639 c CTR174 Cataract 40 27
640 PRF002 Perforated Corneal Ulcer 27
641 c RTN054 Retinitis Pigmentosa 25 27
642 c RTN057 Retinitis Pigmentosa 29 27
643 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 27
644 VTR001 Vitreoretinal Dystrophy 27
645 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 27
646 VST003 Vestibular Nystagmus 27
647 ORB010 Orbital Granuloma 27
648 c RTN129 Retinitis Pigmentosa 49 27
649 c CTR124 Cataract 10, Multiple Types 27
650 c RTN146 Retinitis Pigmentosa 62 27
651 c RTN114 Retinitis Pigmentosa 58 27
652 CRN009 Corneal Ectasia 27
653 c LBR009 Leber Congenital Amaurosis 14 27
654 c RTN140 Retinitis Pigmentosa 67 27
655 OLG014 Oligocone Trichromacy 27
656 RTN019 Retinal Telangiectasia 27
657 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
658 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
659 c ANT084 Anterior Segment Dysgenesis 3 27
660 c HRD186 Hereditary Spastic Paraplegia 51 27
661 RGL001 Regular Astigmatism 27
662 ACT022 Acute Retinal Necrosis Syndrome 27
663 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 26
664 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
665 ACC003 Accommodative Esotropia 26
666 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 26
667 c SPS021 Spastic Paraplegia 10 26
668 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 26
669 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
670 c SPS092 Spastic Paraplegia 11 26
671 c INF019 Infectious Anterior Uveitis 26
672 SNL004 Senile Ectropion 26
673 ISL011 Isolated Aniridia 26
674 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 26
675 c USH044 Usher Syndrome, Type Iiib 26
676 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 26
677 ISL061 Isolated Brachycephaly 26
678 c LBR015 Leber Congenital Amaurosis 5 26
679 P SCL047 Sclerocornea 26
680 MTR001 Mature Cataract 26
681 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
682 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
683 c LKD020 Leukodystrophy, Hypomyelinating, 10 26
684 c RTN147 Retinitis Pigmentosa 48 26
685 c MCL059 Macular Dystrophy, Patterned, 1 26
686 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
687 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
688 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 26
689 ISL089 Isolated Scaphocephaly 26
690 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
691 VTR002 Vitreous Syneresis 25
692 c RTN053 Retinitis Pigmentosa 24 25
693 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
694 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 25
695 c LKD022 Leukodystrophy, Hypomyelinating, 13 25
696 PST063 Postsynaptic Congenital Myasthenic Syndromes 25
697 c RTN176 Retinitis Pigmentosa 71 25
698 PNP001 Panophthalmitis 25
699 c ALB017 Albinism, Oculocutaneous, Type Vi 25
700 CCT001 Cicatricial Ectropion 25
701 P RTN102 Retinitis Pigmentosa, Y-Linked 25
702 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 25
703 PGM007 Pigmented Paravenous Chorioretinal Atrophy 25
704 c CHR060 Chronic Dacryocystitis 25
705 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 25
706 CRN128 Corneal Dystrophy, Endothelial, X-Linked 25
707 c RTN059 Retinitis Pigmentosa 30 25
708 c CTR113 Cataract 11, Multiple Types 25
709 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
710 c MCL078 Macular Degeneration, Age-Related, 14 25
711 c RTN060 Retinitis Pigmentosa 31 25
712 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
713 c RTN169 Retinitis Pigmentosa 70 25
714 TTR027 Tetrasomy 15q26 25
715 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
716 BTT011 Butterfly-Shaped Pigment Dystrophy 25
717 c MCR212 Microphthalmia, Syndromic 12 25
718 c SPS039 Spastic Paraplegia 5a 25
719 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 25
720 BRN041 Bornholm Eye Disease 25
721 TRM002 Traumatic Glaucoma 25
722 HRD019 Hereditary Choroidal Atrophy 25
723 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 25
724 SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 25
725 DYS096 Dyskeratosis, Hereditary Benign Intraepithelial 25
726 c CTR169 Cataract 29 25
727 PHK008 Phakomatosis Cesioflammea 24
728 c RTN159 Retinitis Pigmentosa 45 24
729 c RTN178 Retinitis Pigmentosa 72 24
730 TTR019 Tetrasomy 5p 24
731 c LKD016 Leukodystrophy, Hypomyelinating, 9 24
732 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 24
733 CRN004 Corneal Abscess 24
734 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 24
735 c RTN106 Retinitis Pigmentosa 51 24
736 RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 24
737 c ANT085 Anterior Segment Dysgenesis 5 24
738 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 24
739 c MYS067 Myasthenic Syndrome, Congenital, 22 24
740 AMT001 Ametropic Amblyopia 24
741 PRT101 Poretti-Boltshauser Syndrome 24
742 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
743 CNJ010 Conjunctival Degeneration 24
744 c LBR008 Leber Congenital Amaurosis 13 24
745 WGN007 Wagner Vitreoretinopathy 24
746 SPP007 Suppression Amblyopia 24
747 c RTN190 Retinitis Pigmentosa 76 24
748 DCR002 Dacryocystocele 24
749 c WLL038 Weill-Marchesani Syndrome 3 24
750 PSD004 Pseudomembranous Conjunctivitis 24
751 c ANT083 Anterior Segment Dysgenesis 7 24
752 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 24
753 c MCR228 Microphthalmia, Syndromic 13 23
754 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 23
755 c RTN067 Retinitis Pigmentosa 41 23
756 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
757 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 23
758 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 23
759 c MYS076 Myasthenic Syndrome, Congenital, 8 23
760 c SPS036 Spastic Paraplegia 3 23
761 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 23
762 c WLL040 Weill-Marchesani Syndrome 4 23
763 c SPS025 Spastic Paraplegia 15 23
764 STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 23
765 PRT032 Partial Central Choroid Dystrophy 23
766 c LKD023 Leukodystrophy, Hypomyelinating, 12 23
767 c RTN141 Retinitis Pigmentosa 39 23
768 c NGH027 Night Blindness, Congenital Stationary, Type 1c 23
769 c MYS074 Myasthenic Syndrome, Congenital, 12 23
770 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 23
771 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
772 c LKD021 Leukodystrophy, Hypomyelinating, 11 23
773 c EXD004 Exudative Vitreoretinopathy 4 23
774 c ALB016 Albinism, Oculocutaneous, Type Vii 23
775 c OGC001 Oguchi Disease 1 23
776 c LBR010 Leber Congenital Amaurosis 15 23
777 c RTN144 Retinitis Pigmentosa 61 23
778 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
779 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
780 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
781 c FML324 Familial Porphyria Cutanea Tarda 22
782 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 22
783 c MCL030 Macular Degeneration, Age-Related, 10 22
784 c MYS056 Myasthenic Syndrome, Congenital, 17 22
785 P PST016 Posterior Polar Cataract 22
786 c CTR166 Cataract 33, Multiple Types 22
787 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 22
788 c CTR131 Cataract 17, Multiple Types 22
789 c RTN166 Retinitis Pigmentosa 69 22
790 DRM043 Dermochondrocorneal Dystrophy 22
791 c CTR181 Cataract 18 22
792 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 22
793 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
794 c MYS064 Myasthenic Syndrome, Congenital, 16 22
795 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
796 c MCL073 Macular Dystrophy, Vitelliform, 1 22
797 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 22
798 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
799 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 22
800 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 22
801 c MCR217 Microphthalmia, Syndromic 11 22
802 c RTN157 Retinitis Pigmentosa 37 22
803 c CTR180 Cataract 22, Multiple Types 22
804 c RTN117 Retinitis Pigmentosa 57 22
805 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 22
806 c CTR184 Cataract 39, Multiple Types 22
807 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 22
808 PHC002 Phacogenic Glaucoma 22
809 c MNS008 Monosomy 21 22
810 INT323 Intraocular Pressure Quantitative Trait Locus 22
811 c CTR162 Cataract 47 21
812 c NGH030 Night Blindness, Congenital Stationary, Type 1f 21
813 c CTR119 Cataract 32, Multiple Types 21
814 c RTN195 Retinitis Pigmentosa 79 21
815 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 21
816 c ACH038 Achromatopsia 7 21
817 c MCL043 Macular Degeneration, Age-Related, 2 21
818 SNL001 Senile Entropion 21
819 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
820 CRN010 Corneal Granular Dystrophy 21
821 c NGH028 Night Blindness, Congenital Stationary, Type 1d 21
822 ANS002 Aniseikonia 21
823 c MYS070 Myasthenic Syndrome, Congenital, 19 21
824 MSC089 Mosaic Monosomy X 21
825 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 21
826 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21
827 ISL087 Isolated Oxycephaly 21
828 c SPS091 Spastic Paraplegia 4 21
829 P MNS011 Monosomy 9q22.3 21
830 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 21
831 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
832 c RTN065 Retinitis Pigmentosa 36 21
833 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
834 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
835 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
836 c RTN213 Retinitis Pigmentosa 80 21
837 c HRN024 Horner Syndrome, Congenital 21
838 PHC001 Phacolytic Glaucoma 21
839 P ERL043 Early-Onset Nuclear Cataract 21
840 SPS087 Spasmus Nutans 21
841 c CTR105 Cataract 12, Multiple Types 21
842 PRL018 Purulent Endophthalmitis 21
843 c MYS065 Myasthenic Syndrome, Congenital, 18 21
844 CRN023 Corneal Deposit 21
845 MCR220 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 21
846 MRG001 Morgagni Cataract 21
847 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
848 c RTN148 Retinitis Pigmentosa 63 21
849 EXT029 Extraocular Retinoblastoma 21
850 c CTS031 Cutis Laxa, Autosomal Dominant 2 21
851 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
852 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
853 c CTR176 Cataract, Age-Related Nuclear 20
854 ISL084 Isolated Trigonocephaly 20
855 c RTN085 Retinitis Pigmentosa 54 20
856 c CTR165 Cataract 19, Multiple Types 20
857 INT012 Interval Angle-Closure Glaucoma 20
858 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 20
859 c CTR159 Cataract 35 20
860 c CTR182 Cataract 23, Multiple Types 20
861 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 20
862 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
863 c CTR116 Cataract 15, Multiple Types 20
864 SPR019 Superficial Keratitis 20
865 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
866 P PTT054 Patterned Macular Dystrophy 20
867 ERY043 Euryblepharon 20
868 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
869 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 20
870 c MCL071 Macular Dystrophy, Patterned, 2 20
871 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
872 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 20
873 c RTN130 Retinitis Pigmentosa 46 20
874 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
875 PRL006 Paralytic Lagophthalmos 20
876 c STC012 Stickler Syndrome, Type Iv 20
877 SLR002 Solar Retinopathy 20
878 c NGH024 Night Blindness, Congenital Stationary, Type 1h 20
879 c LBR029 Leber Congenital Amaurosis 17 20
880 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
881 ORB019 Orbital Margin, Hypoplasia of 20
882 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
883 c SPS013 Spastic Paraplegia 8 20
884 P IDP049 Idiopathic Anterior Uveitis 20
885 NTH002 Nathalie Syndrome 20
886 c CTR183 Cataract 38 20
887 CNR016 Cone-Rod Dystrophy 7 20
888 c SPS020 Spastic Paraplegia 1 20
889 PHL001 Phlyctenulosis 20
890 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 20
891 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
892 c CTR136 Cataract 41 20
893 c GLC054 Glaucoma 3, Primary Congenital, D 20
894 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 20
895 EYD001 Eye Degenerative Disease 20
896 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
897 c CTR097 Cataract 34, Multiple Types 20
898 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
899 OCL057 Oculotrichodysplasia 20
900 c CTR111 Cataract 36 20
901 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 19
902 MTR058 Maternally-Inherited Progressive External Ophthalmoplegia 19
903 c CTR163 Cataract 46, Juvenile-Onset 19
904 CRN007 Corneal Staphyloma 19
905 c GLL040 Galloway-Mowat Syndrome 3 19
906 CNR012 Cone-Rod Dystrophy 11 19
907 c MYS077 Myasthenic Syndrome, Congenital, 15 19
908 c EXD006 Exudative Vitreoretinopathy 5 19
909 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 19
910 c MCL052 Macular Degeneration, Age-Related, 13 19
911 CNR024 Cone-Rod Dystrophy 13 19
912 c SPN363 Spinocerebellar Ataxia, X-Linked 4 19
913 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 19
914 ACC002 Accommodative Spasm 19
915 RTN158 Retinitis Pigmentosa with or Without Situs Inversus 19
916 c EXD010 Exudative Vitreoretinopathy 6 19
917 c DNR004 Duane Retraction Syndrome 2 19
918 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 19
919 CNR025 Cone-Rod Dystrophy 15 19
920 c HRD188 Hereditary Spastic Paraplegia 72 19
921 CMB076 Combined Oxidative Phosphorylation Deficiency 31 19
922 c STC011 Stickler Syndrome, Type V 19
923 NWF001 Newfoundland Rod-Cone Dystrophy 19
924 c RTN192 Retinitis Pigmentosa 77 19
925 EPB002 Epiblepharon 19
926 c RTN180 Retinitis Pigmentosa 74 19
927 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 19
928 SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 19
929 CNR030 Cone-Rod Dystrophy 20 19
930 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
931 c LBR017 Leber Congenital Amaurosis 7 19
932 BTH002 Bothnia Retinal Dystrophy 19
933 PPL023 Pupil Disease 19
934 NCL001 Nuclear Senile Cataract 19
935 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 19
936 MCR307 Microspherophakia-Metaphyseal Dysplasia 19
937 c SPN203 Spinocerebellar Ataxia, X-Linked 5 19
938 c MCL061 Macular Dystrophy, Vitelliform, 4 19
939 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 19
940 c SPS042 Spastic Paraplegia 9 19
941 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
942 c SPS037 Spastic Paraplegia 31 19
943 DST044 Distal Trisomy 14q 19
944 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 19
945 CNR021 Cone-Rod Dystrophy 10 18
946 OPH014 Ophthalmomandibulomelic Dysplasia 18
947 c CTR139 Cataract 42 18
948 c USH043 Usher Syndrome, Type Ih 18
949 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
950 DPK001 Deep Keratitis 18
951 c GLL041 Galloway-Mowat Syndrome 4 18
952 c CHR059 Chronic Endophthalmitis 18
953 c NGH022 Night Blindness, Congenital Stationary, Type 1g 18
954 FCL013 Focal Chorioretinitis 18
955 SCL011 Sclerosing Keratitis 18
956 CRN126 Corneal Dystrophy, Lisch Epithelial 18
957 c ANT087 Anterior Segment Dysgenesis 6 18
958 c LBR006 Leber Congenital Amaurosis 11 18
959 c CTR178 Cataract 27 18
960 CCT003 Cicatricial Entropion 18
961 c EXD007 Exudative Vitreoretinopathy 3 18
962 c ANT067 Anterior Segment Dysgenesis 8 18
963 c SPS034 Spastic Paraplegia 26 18
964 c RTN063 Retinitis Pigmentosa 34 18
965 c PSD047 Pseudo-Turner Syndrome 18
966 c SPS027 Spastic Paraplegia 17 18
967 MNT308 Mental Retardation with Optic Atrophy, Deafness, and Seizures 18
968 c RTN196 Retinitis Pigmentosa 78 18
969 IDP006 Idiopathic Corneal Edema 18
970 AQS001 Aqueous Misdirection 18
971 c CTR157 Cataract 28 18
972 c MCL056 Macular Dystrophy, Vitelliform, 5 18
973 DST036 Distal Trisomy 15q 18
974 c CTR110 Cataract 26, Multiple Types 18
975 c VTR009 Vitreoretinochoroidopathy Dominant 18
976 c GLL042 Galloway-Mowat Syndrome 5 18
977 c CTR106 Cataract 20, Multiple Types 18
978 c RTN061 Retinitis Pigmentosa 32 18
979 CNJ004 Conjunctival Pigmentation 18
980 ARG003 Argyll Robertson Pupil 18
981 c CTR144 Cataract 43 18
982 c SPS028 Spastic Paraplegia 18 17
983 c SPS041 Spastic Paraplegia 6 17
984 c CTR185 Cataract 30 17
985 RTN170 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 17
986 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 17
987 SCL008 Scleromalacia Perforans 17
988 c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 17
989 c CTR160 Cataract 45 17
990 c RTN214 Retinitis Pigmentosa 81 17
991 PLS001 Pulsating Exophthalmos 17
992 CNR017 Cone-Rod Dystrophy 9 17
993 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 17
994 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 17
995 c RTN206 Retinitis Pigmentosa, Late-Adult Onset 17
996 RTN004 Retinal Microaneurysm 17
997 MNF001 Monofixation Syndrome 17
998 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 17
999 c EXD012 Exudative Vitreoretinopathy 7 17
1000 P MCL058 Macular Degeneration, Early-Onset 17
1001 c SPS023 Spastic Paraplegia 13 17
1002 c GLC079 Glaucoma 1, Open Angle, P 17
1003 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 17
1004 CTR107 Cataract 13 with Adult I Phenotype 17
1005 MNS013 Monosomy 13q34 17
1006 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 17
1007 ESS005 Essential Iris Atrophy 17
1008 RTN185 Retinal Dysplasia, Primary 17
1009 c LKD027 Leukodystrophy, Hypomyelinating, 14 17
1010 c LKD028 Leukodystrophy, Hypomyelinating, 15 17
1011 c LKD030 Leukodystrophy, Hypomyelinating, 17 17
1012 c CHR088 Chronic Inflammation of Lacrimal Passage 17
1013 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 16
1014 c CRN280 Cornea Plana 2, Autosomal Recessive 16
1015 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 16
1016 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 16
1017 P MCL035 Macular Dystrophy, Retinal, 2 16
1018 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 16
1019 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 16
1020 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 16
1021 c MCL039 Macular Degeneration, Age-Related, 8 16
1022 c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 16
1023 CNR026 Cone-Rod Dystrophy 18 16
1024 ABN001 Abnormal Retinal Correspondence 16
1025 EXP003 Exophthalmic Ophthalmoplegia 16
1026 c SPS080 Spastic Paraplegia 51 16
1027 c STC007 Stickler Syndrome, Type 3 16
1028 c MCL041 Macular Degeneration, Age-Related, 7 16
1029 PDT010 Pediatric Intraocular Retinoblastoma 16
1030 P OGC002 Oguchi Disease 2 16
1031 c GLC089 Glaucoma 3, Primary Congenital, E 16
1032 c MCL077 Macular Degeneration, Age-Related, 5 16
1033 PRS110 Persistent Placoid Maculopathy 16
1034 CHN047 Chondroectodermal Dysplasia with Night Blindness 16
1035 PDT013 Pediatric Extraocular Retinoblastoma 16
1036 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 16
1037 CNR027 Cone-Rod Dystrophy 17 16
1038 NND003 Non-Distal Trisomy 10q 16
1039 P ACT077 Acute Orbital Inflammation 16
1040 CNR029 Cone-Rod Dystrophy 19 16
1041 HRD017 Hordeolum Externum 15
1042 PHC015 Phacoanaphylactic Uveitis 15
1043 c MCL032 Macular Degeneration, Age-Related, 11 15
1044 CNR023 Cone-Rod Dystrophy 8 15
1045 c MCL051 Macular Degeneration, Age-Related, 12 15
1046 ULC003 Ulcerative Blepharitis 15
1047 c LKD029 Leukodystrophy, Hypomyelinating, 16 15
1048 CNR013 Cone-Rod Dystrophy 12 15
1049 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 15
1050 c SPS032 Spastic Paraplegia 24 15
1051 c SPS033 Spastic Paraplegia 25 15
1052 c SPS035 Spastic Paraplegia 29 15
1053 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 15
1054 c MCL038 Macular Degeneration, Age-Related, 4 15
1055 c MCL036 Macular Degeneration, Age-Related, 6 15
1056 RTC011 Reticular Dystrophy of Retinal Pigment Epithelium 15
1057 EYC003 Eye Accommodation Disease 15
1058 MCR317 Macrophthalmia, Colobomatous, with Microcornea 15
1059 DST082 Distal Trisomy 10q 15
1060 ALT004 Alternating Esotropia 15
1061 c SPS022 Spastic Paraplegia 12 15
1062 BLN008 Blind Hypotensive Eye 15
1063 VCL007 Vocal Cord Paralysis and Ptosis 15
1064 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 15
1065 MCH006 Mechanical Strabismus 15
1066 IGG009 Igg4-Related Ophthalmic Disease 15
1067 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 15
1068 c SPN403 Spinocerebellar Ataxia, X-Linked 2 14
1069 ACT038 Acute Retrobulbar Neuritis 14
1070 NSL017 Nasolacrimal Duct Cyst 14
1071 c SPS026 Spastic Paraplegia 16 14
1072 c SPS161 Spastic Paraplegia 32 14
1073 c CTR128 Cataract 33 14
1074 c MCL044 Macular Degeneration, Age-Related, 9 14
1075 c MCL065 Macular Degeneration, Age-Related, 15 14
1076 CYC003 Cyclotropia 14
1077 c SPS038 Spastic Paraplegia 39 14
1078 NNH011 Non-Hereditary Retinoblastoma 14
1079 MYC004 Mycotic Corneal Ulcer 14
1080 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 14
1081 c RTN208 Retinopathy, Pericentral Pigmentary, Autosomal Recessive 14
1082 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 14
1083 c NYS004 Nystagmus 3, Congenital, Autosomal Dominant 14
1084 ALT003 Alternating Exotropia 14
1085 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
1086 c EFM001 Efemp2-Related Cutis Laxa 14
1087 c SPS029 Spastic Paraplegia 19 14
1088 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 14
1089 GNR029 Generalized Galactose Epimerase Deficiency 14
1090 ORB018 Orbital Leiomyoma 14
1091 EPT023 Epithelial and Subepithelial Dystrophy 14
1092 P RTN200 Retinopathy, Pericentral Pigmentary, Dominant 14
1093 DSS005 Dissociated Nystagmus 14
1094 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1095 c LTB003 Ltbp4-Related Cutis Laxa 14
1096 c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 14
1097 c MCL026 Macular Dystrophy, Retinal, 3 14
1098 MYP060 Myopic Macular Degeneration 13
1099 CLF040 Cleft Lip-Retinopathy Syndrome 13
1100 c CTR025 Cataract, Total Congenital 13
1101 ANG003 Angelucci's Syndrome 13
1102 c GLC052 Glaucoma 3, Primary Congenital, C 13
1103 BLT023 Bilateral Acute Depigmentation of the Iris 13
1104 CNJ002 Conjunctival Folliculosis 13
1105 c CRN279 Cornea Plana 1, Autosomal Dominant 13
1106 c SCL053 Sclerocornea, Autosomal Dominant 13
1107 CNG400 Congenital Hereditary Endothelial Dystrophy Type I 13
1108 CNG335 Congenital Ectropion Uveae 13
1109 ERL036 Early-Onset Posterior Subcapsular Cataract 13
1110 EPT024 Epithelial-Stromal Tgfbi Dystrophy 12
1111 c INF152 Infectious Posterior Uveitis 12
1112 c ACT030 Acute Dacryoadenitis 12
1113 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 12
1114 INT176 Intraocular Medulloepithelioma 12
1115 P IDP065 Idiopathic Macular Telangiectasia Type 1 12
1116 c MLT069 Multiple Mitochondrial Dysfunctions Syndrome 2 12
1117 c SPS024 Spastic Paraplegia 14 12
1118 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 12
1119 c CNT026 Central Corneal Ulcer 12
1120 c FRM005 Frmd7-Related Infantile Nystagmus 12
1121 CNT088 Central Cloudy Dystrophy of Francois 12
1122 P ACT070 Acute Inflammation of Lacrimal Passage 12
1123 PRD026 Pre-Descemet Corneal Dystrophy 12
1124 NDL008 Nodular Episcleritis 12
1125 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 12
1126 PRG116 Progressive Supranuclear Palsy-Corticobasal Syndrome 12
1127 ORB003 Orbital Tenonitis 11
1128 9Q3002 9q33.3q34.11 Microdeletion Syndrome 11
1129 MNC001 Monocular Esotropia 11
1130 CRT003 Cortical Senile Cataract 11
1131 c ACQ002 Acquired Night Blindness 11
1132 c SPS040 Spastic Paraplegia 5b 11
1133 CRN002 Corneal Argyrosis 11
1134 HYP062 Hypopyon Ulcer 11
1135 CNJ011 Conjunctival Deposit 11
1136 PSD006 Pseudopterygium 11
1137 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
1138 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 11
1139 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 11
1140 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 11
1141 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 11
1142 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 11
1143 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 11
1144 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 11
1145 MCH001 Mechanical Ectropion 11
1146 CNG357 Congenital Symblepharon 11
1147 c GLC048 Glaucoma 1, Open Angle, I 11
1148 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 11
1149 INT026 Intermittent Proptosis 11
1150 ERY041 Erythrocyte Galactose Epimerase Deficiency 10
1151 THY013 Thyrotoxic Exophthalmos 10
1152 OPH003 Ophthalmia Nodosa 10
1153 CNT011 Contact Blepharoconjunctivitis 10
1154 SPS001 Spastic Ectropion 10
1155 c USH011 Usher Syndrome, Type 2b 10
1156 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1157 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1158 EQT001 Equatorial Staphyloma 10
1159 STP001 Staphyloma Posticum 10
1160 c CHR035 Chronic Dacryoadenitis 10
1161 HST002 Histoplasmosis Retinitis 9
1162 c CNG433 Congenital Cornea Plana 9
1163 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 9
1164 INT008 Intermittent Squint 9
1165 c LTN017 Late-Infantile/juvenile Krabbe Disease 9
1166 c ADL071 Adult Krabbe Disease 9
1167 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1168 CCT004 Cicatricial Lagophthalmos 9
1169 c NYS019 Nystagmus, Congenital, Autosomal Recessive 9
1170 ACT168 Acute Annular Outer Retinopathy 9
1171 MRG002 Marginal Corneal Ulcer 9
1172 STR016 Steroid-Induced Glaucoma - Borderline 9
1173 c CHR061 Chronic Canaliculitis 9
1174 c INF166 Infantile Epileptic Encephalopathy 55 9
1175 c INF169 Infantile Epileptic Encephalopathy 59 9
1176 IDP047 Idiopathic Panuveitis 9
1177 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 8
1178 ETH013 Euthyroid Graves Orbitopathy 8
1179 TRN011 Transient Refractive Change 8
1180 DFF011 Diffuse Interstitial Keratitis 8
1181 c FBL003 Fbln5-Related Cutis Laxa 8
1182 c SDR001 Siderosis of Eye 8
1183 FND005 Fundus Pulverulentus 8
1184 c IDP048 Idiopathic Posterior Uveitis 8
1185 c IDP066 Idiopathic Macular Telangiectasia Type 3 8
1186 BRD008 Borderline Glaucoma 8
1187 INV017 Inverse Marcus-Gunn Phenomenon 8
1188 P TTL001 Total Internal Ophthalmoplegia 8
1189 BLL005 Bullous Retinoschisis 8
1190 BRW005 Brawny Scleritis 8
1191 c INF165 Infantile Epileptic Encephalopathy 56 8
1192 c INF167 Infantile Epileptic Encephalopathy 57 8
1193 c INF168 Infantile Epileptic Encephalopathy 58 8
1194 ABN004 Abnormal Pupillary Function 8
1195 3Q2004 3q26 Microduplication Syndrome 8
1196 PLZ007 Pelizaeus-Merzbacher Disease, Classic Form 8
1197 PRG115 Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome 8
1198 PHK009 Phakomatosis Cesiomarmorata 8
1199 OKH001 Okihiro Syndrome Due to a Point Mutation 8
1200 IDP043 Idiopathic Uveal Effusion Syndrome 8
1201 ACQ003 Acquired Tear Duct Stenosis 8
1202 LNS002 Lens-Induced Iridocyclitis 8
1203 c ERL039 Early-Onset Anterior Polar Cataract 8
1204 c GLC032 Glaucoma, Hereditary 8
1205 MRN008 Marin-Amat Syndrome 7
1206 P JVN036 Juvenile Sialidosis Type 2 7
1207 c CNG348 Congenital Sialidosis Type 2 7
1208 c PST012 Posterior Corneal Pigmentation 7
1209 PRG117 Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome 7
1210 c SCN003 Secondary Corneal Edema 7
1211 TTN002 Tetanic Cataract 7
1212 PST025 Posterior Dislocation of Lens 7
1213 ANG010 Angular Blepharoconjunctivitis 7
1214 ORB005 Orbital Periostitis 7
1215 STR006 Stromal Corneal Pigmentation 7
1216 NDL004 Nodular Degeneration of Cornea 7
1217 c GLL043 Galloway-Mowat Syndrome 2 7
1218 DST090 Distal Trisomy 2p 7
1219 PLZ008 Pelizaeus-Merzbacher Disease, Transitional Form 7
1220 c CTR008 Cataract Congenital Autosomal Dominant 7
1221 TRS020 Tarsal Kink Syndrome 7
1222 PHK010 Phakomatosis Spilorosea 7
1223 P ANT008 Anterior Corneal Pigmentation 7
1224 STB001 Stable Condition Keratoconus 6
1225 RNG002 Ring Corneal Ulcer 6
1226 RSD002 Residual Stage of Open Angle Glaucoma 6
1227 PHL004 Phlegmonous Dacryocystitis 6
1228 DBL001 Double Pterygium 6
1229 CNT008 Contact Lens Corneal Edema 6
1230 HYP023 Hypersecretion Glaucoma 6
1231 CNJ008 Conjunctival Concretion 6
1232 LXT001 Luxation of Globe 6
1233 STN002 Stenosis of Lacrimal Punctum 6
1234 SQM003 Squamous Blepharitis 6
1235 SCL005 Scleroperikeratitis 6
1236 P ACT026 Acute Canaliculitis 6
1237 c SCN004 Secondary Vitreoretinal Degeneration 6
1238 DSS001 Disseminated Chorioretinitis 6
1239 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
1240 MLT117 Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 6
1241 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
1242 ACT005 Acute Hydrops Keratoconus 6
1243 MCH004 Mechanical Entropion 6
1244 RTN189 Retinal Capillary Malformation 6
1245 LCR003 Lacrimal Passage Granuloma 6
1246 MNC005 Monocular Exotropia 6
1247 STN003 Stenosis of Lacrimal Passage 6
1248 c MCR282 Microcephaly and Chorioretinopathy 1 6
1249 c MCR283 Microcephaly and Chorioretinopathy 2 6
1250 c MCR284 Microcephaly and Chorioretinopathy 3 6
1251 PTR027 Peters Anomaly-Cataract Syndrome 6
1252 PLZ009 Pelizaeus-Merzbacher Disease in Female Carriers 6
1253 BWM001 Bowman's Membrane Folds or Rupture 6
1254 MCL004 Macular Keratitis 6
1255 ABN003 Abnormal Threshold of Rods 6
1256 EPS002 Episcleritis Periodica Fugax 6
1257 GNC007 Gonococcal Keratitis 6
1258 GNC008 Gonococcal Endophthalmia 6
1259 CNT022 Central Gyrate Choroidal Dystrophy 6
1260 P RBN007 Rubinstein Taybi Like Syndrome 5
1261 c INF151 Infectious Panuveitis 5
1262 PRM009 Primary Eye Hypotony 5
1263 LTR005 Lateral Displacement of Eye 5
1264 PRG012 Progressive Peripheral Pterygium 5
1265 LCL001 Localized Anterior Staphyloma 5
1266 P PRM007 Primary Lacrimal Atrophy 5
1267 RSD001 Residual Stage Angle-Closure Glaucoma 5
1268 PRP014 Peripheral Degeneration of Cornea 5
1269 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 5
1270 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 5
1271 GRY003 Grayson-Wilbrandt Corneal Dystrophy 5
1272 INF115 Infectious Epithelial Keratitis 5
1273 PRP012 Peripheral Focal Chorioretinitis 5
1274 VTR004 Vitreous Abscess 5
1275 TTL003 Total Circumpapillary Dystrophy of Choroid 5
1276 CMP057 Complete Cryptophthalmia 5
1277 PRT091 Partial Cryptophthalmia 5
1278 ISL065 Isolated Congenital Alacrima 5
1279 ERL027 Early-Onset Non-Syndromic Cataract 5
1280 ERL042 Early-Onset Partial Cataract 5
1281 MCH005 Mechanical Lagophthalmos 5
1282 SPP006 Suppurative Uveitis 5
1283 RTN009 Retinal Dystrophies Primarily Involving Bruch's Membrane 5
1284 ANT015 Anatomical Narrow Angle Borderline Glaucoma 5
1285 P EPP002 Epiphora Due to Excess Lacrimation 5
1286 c SCN002 Secondary Lacrimal Atrophy 5
1287 ANT012 Anterior Dislocation of Lens 5
1288 STN001 Stenosis of Lacrimal Sac 5
1289 GNC004 Gonococcal Iridocyclitis 5
1290 SMP002 Simple Chronic Conjunctivitis 5
1291 DFF008 Diffuse Secondary Choroid Atrophy 5
1292 CNS003 Constant Exophthalmos 5
1293 RNG001 Ring Staphyloma 5
1294 BLN007 Blind Hypertensive Eye 5
1295 PHT005 Phthisical Cornea 5
1296 CNT006 Central Pterygium 5
1297 EVR001 Eversion of Lacrimal Punctum 5
1298 c EPP001 Epiphora Due to Insufficient Drainage 5
1299 MYT001 Myotonic Cataract 5
1300 FLT003 Flat Retinoschisis 5
1301 PRT016 Partial Circumpapillary Choroid Dystrophy 5
1302 RSD003 Residual Stage Corticosteroid-Induced Glaucoma 5
1303 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 5
1304 c GLC029 Glaucoma Type 1c 4
1305 c GLC033 Glaucoma, Hereditary Adult Type 1a 4
1306 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 4
1307 c GLC035 Glaucoma, Primary Infantile Type 3a 4
1308 ISL071 Isolated Congenital Ectropion 4
1309 HNY001 Honey-Droplet Corneal Dystrophy 4
1310 IDP050 Idiopathic Linear Interstitial Keratitis 4
1311 PRS026 Parasitic Conjunctivitis 4
1312 DYS010 Dystrophies Primarily Involving the Retinal Pigment Epithelium 4
1313 RSC002 Rosacea Conjunctivitis 4
1314 SNL006 Senile Atrophy of Choroid 4
1315 ANG008 Angioid Streaks of Choroid 4
1316 c RTN181 Retinitis Pigmentosa 2, X-Linked 4
1317 c FML317 Familial Monosomy 7 Syndrome 4
1318 INT284 Intellectual Disability-Cataracts-Kyphosis Syndrome 4
1319 ATS361 Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome 4
1320 RTN007 Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses 4
1321 c MCR048 Microcephaly Chorioretinopathy Recessive Form 4
1322 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
1323 P CHR168 Chorioretinopathy Dominant Form Microcephaly 4
1324 PRN060 Paraneoplastic Uveitis 3
1325 PPL048 Papillorenal Syndrome 50
1326 P LBR001 Leber Congenital Amaurosis 64
1327 c MCL042 Macular Degeneration, Age-Related, 1 84
1328 OPT008 Optic Nerve Neoplasm 38
1329 c USH036 Usher Syndrome, Type I 60
1330 P USH001 Usher Syndrome 58
1331 c USH038 Usher Syndrome, Type Iiia 43
1332 KRN002 Kearns-Sayre Syndrome 60
1333 RTN015 Retinal Cancer 53
1334 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
1335 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
1336 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 39
1337 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 32
1338 P NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 31
1339 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
1340 c HRD138 Hereditary Motor and Sensory Neuropathy V 26
1341 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 25
1342 OCL031 Oculo-Cerebral Dysplasia 13
1343 BRK005 Berk-Tabatznik Syndrome 9
1344 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 6
1345 ECZ002 Eczema Herpeticum 49
1346 BRD025 Birdshot Chorioretinopathy 51
1347 c WRB002 Warburg Micro Syndrome 1 42
1348 c WRB005 Warburg Micro Syndrome 4 37
1349 ALN001 Aland Island Eye Disease 37
1350 DYN002 Doyne Honeycomb Retinal Dystrophy 35
1351 c WRB003 Warburg Micro Syndrome 2 33
1352 P WRB001 Warburg Micro Syndrome 32
1353 c WRB004 Warburg Micro Syndrome 3 23
1354 STH001 Saethre-Chotzen Syndrome 63
1355 OPT007 Optic Nerve Glioma 46
1356 P SPS008 Spastic Ataxia 33
1357 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
1358 c SPS212 Spastic Ataxia 5, Autosomal Recessive 27
1359 c SPS142 Spastic Ataxia 2, Autosomal Recessive 23
1360 c SPS208 Spastic Ataxia 4, Autosomal Recessive 23
1361 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
1362 CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 23
1363 c SPS191 Spastic Ataxia 7, Autosomal Dominant 20
1364 c SPS214 Spastic Ataxia 4 9
1365 c SPS171 Spastic Ataxia 5 9
1366 c SPS162 Spastic Ataxia 1 8
1367 c SPS163 Spastic Ataxia 3 8
1368 c SPS170 Spastic Ataxia 2 7
1369 c SPS229 Spastic Ataxia 8 7
1370 c SPS172 Spastic Ataxia 7 7
1371 PPL021 Papilledema 49
1372 RTN011 Retina Lymphoma 28
1373 c OPT025 Optic Atrophy 6 21
1374 RTN123 Retinochoroidal Coloboma 19
1375 MLN018 Moloney Syndrome 18
1376 MPN002 Mepan Syndrome 8
1377 OCL009 Ocular Cancer 60
1378 P PNT019 Pontocerebellar Hypoplasia 41
1379 KLV001 Kluver-Bucy Syndrome 41
1380 c PNT034 Pontocerebellar Hypoplasia, Type 2e 40
1381 c PNT036 Pontocerebellar Hypoplasia, Type 6 40
1382 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
1383 c PNT018 Pontocerebellar Hypoplasia, Type 1b 37
1384 c PNT010 Pontocerebellar Hypoplasia Type 1 35
1385 c PNT045 Pontocerebellar Hypoplasia, Type 1a 33
1386 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
1387 c PNT044 Pontocerebellar Hypoplasia, Type 2a 31
1388 c PNT033 Pontocerebellar Hypoplasia, Type 10 31
1389 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
1390 c PNT043 Pontocerebellar Hypoplasia, Type 4 30
1391 c PNT032 Pontocerebellar Hypoplasia, Type 9 29
1392 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
1393 MNT006 Manitoba Oculotrichoanal Syndrome 26
1394 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
1395 c PNT039 Pontocerebellar Hypoplasia, Type 7 25
1396 c PNT048 Pontocerebellar Hypoplasia, Type 2c 24
1397 c PNT047 Pontocerebellar Hypoplasia, Type 2b 24
1398 c PNT050 Pontocerebellar Hypoplasia, Type 11 23
1399 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1400 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
1401 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 8
1402 3MC003 3mc Syndrome 42
1403 IRD003 Iridocorneal Endothelial Syndrome 27
1404 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 24
1405 WBB001 Webb-Dattani Syndrome 22
1406 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 14
1407 LPS006 Lopes Gorlin Syndrome 6
1408 P FCS002 Fucosidosis 60
1409 RTN020 Retinal Vascular Disease 46
1410 OCL011 Ocular Motility Disease 41
1411 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 24
1412 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 16
1413 ULR001 Ulerythema Ophryogenesis 15
1414 RTN010 Retinal Melanoma 9
1415 c FCS008 Fucosidosis Type 1 8
1416 ALG004 Al Gazali Khidr Prem Chandran Syndrome 7
1417 PGN001 Pagon Stephan Syndrome 7
1418 SLN003 Silengo Lerone Pelizza Syndrome 4
1419 RTN076 Retinopathy, Arteriosclerotic 4
1420 OPT022 Optic Atrophy 1 and Deafness 3
1421 OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 3
1422 P RTN008 Retinitis Pigmentosa 81
1423 MRF001 Marfan Syndrome 74
1424 P MTC003 Metachromatic Leukodystrophy 71
1425 P MCR115 Microvascular Complications of Diabetes 5 71
1426 P TYS001 Tay-Sachs Disease 71
1427 FBR012 Fabry Disease 71
1428 CRZ001 Crouzon Syndrome 70
1429 P LYM118 Lymphoma 70
1430 WRN001 Werner Syndrome 69
1431 P KRB001 Krabbe Disease 69
1432 P CHR012 Chronic Granulomatous Disease 69
1433 P NRF023 Neurofibromatosis, Type Ii 68
1434 P TBR001 Tuberous Sclerosis 68
1435 P TRN020 Turner Syndrome 68
1436 c MYT021 Myotonic Dystrophy 1 68
1437 APR006 Apert Syndrome 68
1438 SCH036 Scheie Syndrome 68
1439 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
1440 P MCL013 Mucolipidosis Iv 67
1441 BHC003 Behcet Syndrome 67
1442 CNR004 Cone-Rod Dystrophy 2 67
1443 P PSD087 Pseudoxanthoma Elasticum 67
1444 c NRF024 Neurofibromatosis, Type I 66
1445 P ANR048 Aniridia 1 65
1446 CHD001 Chediak-Higashi Syndrome 65
1447 P ASP006 Aspergillosis 65
1448 GLC006 Galactosemia 65
1449 c TBR026 Tuberous Sclerosis 2 65
1450 P CRN015 Cornelia De Lange Syndrome 64
1451 P FRD012 Friedreich Ataxia 1 64
1452 SND001 Sandhoff Disease 64
1453 CRB011 Cerebrotendinous Xanthomatosis 63
1454 c MCP050 Mucopolysaccharidosis, Type Ii 63
1455 WLL001 Williams-Beuren Syndrome 63
1456 c MCL062 Mucolipidosis Ii Alpha/beta 63
1457 P KBK002 Kabuki Syndrome 1 63
1458 c MCP049 Mucopolysaccharidosis, Type Vii 63
1459 c TBR025 Tuberous Sclerosis 1 62
1460 KRT001 Keratoconjunctivitis Sicca 62
1461 c MCP024 Mucopolysaccharidosis Type Vi 62
1462 P GCH001 Gaucher's Disease 62
1463 P BRD002 Bardet-Biedl Syndrome 62
1464 PTR032 Peters-Plus Syndrome 62
1465 P OST001 Osteopetrosis 61
1466 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
1467 P TRC072 Treacher Collins Syndrome 1 61
1468 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
1469 c MCR129 Microvascular Complications of Diabetes 1 61
1470 MCR013 Microphthalmia 60
1471 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
1472 VGT001 Vogt-Koyanagi-Harada Disease 60
1473 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
1474 c MCP001 Mucopolysaccharidosis Iii 60
1475 P STR022 Stargardt Disease 59
1476 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 59
1477 c BRD014 Bardet-Biedl Syndrome 2 58
1478 HMF006 Hemifacial Microsomia 58
1479 ICH054 Ichthyosis, X-Linked 58
1480 P MLN069 Melanoma, Uveal 58
1481 P EPD009 Epidermolysis Bullosa Dystrophica 58
1482 P WRD001 Waardenburg's Syndrome 58
1483 c SPN294 Spinocerebellar Ataxia 1 58
1484 P HLL001 Hallermann-Streiff Syndrome 58
1485 P OCL013 Oculodentodigital Dysplasia 57
1486 c GNG001 Gangliosidosis Gm1 57
1487 c MYT020 Myotonic Dystrophy 2 56
1488 c PRX045 Peroxisome Biogenesis Disorder 1b 56
1489 P RTH001 Rothmund-Thomson Syndrome 56
1490 c MNN047 Mannosidosis, Alpha B, Lysosomal 56
1491 P STC001 Stickler Syndrome 56
1492 P STS008 Sotos Syndrome 1 56
1493 P SPN301 Spinocerebellar Ataxia 2 56
1494 HRL003 Hurler Syndrome 56
1495 ALK013 Alkaptonuria 56
1496 PRR016 Pierre Robin Syndrome 56
1497 VRN004 Vernal Keratoconjunctivitis 55
1498 CCT002 Cicatricial Pemphigoid 54
1499 c TYR012 Tyrosinemia, Type I 54
1500 MVL001 Mevalonic Aciduria 54
1501 PBL005 Piebald Trait 54
1502 c BRD010 Bardet-Biedl Syndrome 1 54
1503 CHR081 Choroideremia 54
1504 KRT002 Keratomalacia 54
1505 ALS001 Alstrom Syndrome 54
1506 PPL025 Popliteal Pterygium Syndrome 54
1507 c SPN291 Spinocerebellar Ataxia 7 53
1508 CTS003 Coats Disease 53
1509 P AXN002 Axenfeld-Rieger Syndrome 53
1510 GLC012 Galactosialidosis 53
1511 ALL009 Allergic Conjunctivitis 53
1512 c PSD066 Pseudohypoparathyroidism, Type Ib 53
1513 c GLC097 Glaucoma 3, Primary Congenital, a 52
1514 c MCR113 Microvascular Complications of Diabetes 3 52
1515 KRT019 Keratitis, Hereditary 52
1516 c MCP043 Mucopolysaccharidosis, Type Iiia 52
1517 VTM028 Vitamin E, Familial Isolated Deficiency of 52
1518 CGN006 Cogan Syndrome 52
1519 c CCK007 Cockayne Syndrome B 51
1520 c WRD030 Waardenburg Syndrome, Type 1 51
1521 CYT005 Cytomegalovirus Retinitis 50
1522 PTS001 Patau Syndrome 50
1523 CHR101 Char Syndrome 50
1524 P MYT002 Myotonic Dystrophy 50
1525 P PSD015 Pseudohypoparathyroidism 50
1526 P SCL015 Scleritis 50
1527 INT054 Intraocular Lymphoma 50
1528 MCL027 Macular Dystrophy, Dominant Cystoid 50
1529 c SPN309 Spinocerebellar Ataxia 6 49
1530 c MCL046 Mucolipidosis Iii Alpha/beta 49
1531 CTY001 Cat Eye Syndrome 49
1532 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 49
1533 P WLL002 Weill-Marchesani Syndrome 49
1534 OPS006 Opsoclonus-Myoclonus Syndrome 49
1535 P KRT005 Keratoacanthoma 49
1536 FCH001 Fuchs' Endothelial Dystrophy 49
1537 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1538 c SPN293 Spinocerebellar Ataxia 12 48
1539 SRS007 Sorsby Fundus Dystrophy 48
1540 P RHZ001 Rhizomelic Chondrodysplasia Punctata 48
1541 P TYR004 Tyrosinemia 48
1542 c CCK008 Cockayne Syndrome a 48
1543 ACR012 Aicardi Syndrome 48
1544 P KRT007 Keratoconus 48
1545 c STR084 Stargardt Disease 1 48
1546 PRS012 Pars Planitis 47
1547 GLD006 Goldberg-Shprintzen Syndrome 47
1548 P MNN019 Mannosidosis, Beta a, Lysosomal 47
1549 GLC098 Glaucoma-Related Pigment Dispersion Syndrome 47
1550 TKL001 Tukel Syndrome 47
1551 CRD002 Cri-Du-Chat Syndrome 47
1552 c SPN314 Spinocerebellar Ataxia 10 47
1553 c CRN139 Cornelia De Lange Syndrome 1 47
1554 c AXN009 Axenfeld-Rieger Syndrome, Type 1 46
1555 PST049 Postaxial Acrofacial Dysostosis 46
1556 NRR001 Neuroretinitis 46
1557 c HRM005 Hermansky-Pudlak Syndrome 1 46
1558 c TYR013 Tyrosinemia, Type Ii 46
1559 ACR058 Acrofacial Dysostosis 1, Nager Type 46
1560 CHR008 Choroiditis 46
1561 c HRM006 Hermansky-Pudlak Syndrome 3 46
1562 FRB001 Farber Lipogranulomatosis 46
1563 c SPN312 Spinocerebellar Ataxia 14 46
1564 c SPN296 Spinocerebellar Ataxia 17 46
1565 MCL075 Macular Dystrophy, Corneal 46
1566 NRM019 Neuraminidase Deficiency 46
1567 KFR001 Kufor-Rakeb Syndrome 46
1568 c BRD012 Bardet-Biedl Syndrome 11 45
1569 c ALB021 Albinism, Oculocutaneous, Type Ii 45
1570 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 45
1571 RTN001 Retinal Vasculitis 45
1572 c BRD044 Bardet-Biedl Syndrome 17 45
1573 c WRD020 Waardenburg Syndrome, Type 4a 45
1574 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 45
1575 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 45
1576 P NRD007 Neurodegeneration with Brain Iron Accumulation 45
1577 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 45
1578 FSH001 Fish-Eye Disease 45
1579 c SPN100 Spinocerebellar Ataxia 27 45
1580 GLC011 Galactose Epimerase Deficiency 45
1581 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 45
1582 P CRN276 Corneal Endothelial Dystrophy 45
1583 OCL033 Oculocerebral Syndrome with Hypopigmentation 45
1584 CRN286 Corneal Dystrophy, Meesmann 44
1585 MYP136 Myopathy, Centronuclear, X-Linked 44
1586 c BRD013 Bardet-Biedl Syndrome 12 44
1587 CNR007 Cone-Rod Dystrophy 6 44
1588 c MCP044 Mucopolysaccharidosis, Type Iiib 44
1589 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 44
1590 c SPN311 Spinocerebellar Ataxia 13 44
1591 LRN001 Laurence-Moon Syndrome 44
1592 EST005 Esotropia 44
1593 BLC001 Blue Cone Monochromacy 43
1594 RTN021 Retinal Vascular Occlusion 43
1595 c SPN305 Spinocerebellar Ataxia 11 43
1596 CND005 Cone Dystrophy 43
1597 CHR211 Chromosome 18p Deletion Syndrome 43
1598 TRP014 Triploidy 42
1599 P OPT048 Opitz-Gbbb Syndrome 42
1600 SCH076 Schnyder Corneal Dystrophy 42
1601 c TYR011 Tyrosinemia, Type Iii 42
1602 c BRD016 Bardet-Biedl Syndrome 4 42
1603 OCL069 Ocular Motor Apraxia 42
1604 c GM1004 Gm1-Gangliosidosis, Type I 42
1605 c BRD048 Bardet-Biedl Syndrome 18 42
1606 c SPN265 Spinocerebellar Ataxia 36 42
1607 c BRD033 Bardet-Biedl Syndrome 13 41
1608 c HRM008 Hermansky-Pudlak Syndrome 5 41
1609 CLB010 Coloboma of Macula 41
1610 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 41
1611 GLC004 Galactokinase Deficiency 41
1612 c BRD011 Bardet-Biedl Syndrome 10 41
1613 c ALB009 Albinism, Oculocutaneous, Type Ia 41
1614 c CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 41
1615 CHR078 Chorioretinitis 40
1616 c PRX059 Peroxisome Biogenesis Disorder 1a 40
1617 c BRD020 Bardet-Biedl Syndrome 8 40
1618 P CHR637 Choroidal Dystrophy, Central Areolar, 1 40
1619 c ATS282 Autosomal Recessive Malignant Osteopetrosis 40
1620 c SPN290 Spinocerebellar Ataxia 15 40
1621 c MCR263 Microphthalmia, Syndromic 1 40
1622 c MCR130 Microvascular Complications of Diabetes 6 40
1623 P ATX024 Ataxia-Oculomotor Apraxia 3 40
1624 P SPS133 Spastic Paraplegia 2, X-Linked 40
1625 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 40
1626 APL002 Aplasia of Lacrimal and Salivary Glands 40
1627 c BRD015 Bardet-Biedl Syndrome 3 40
1628 c SPN103 Spinocerebellar Ataxia 31 40
1629 c SPN106 Spinocerebellar Ataxia 5 40
1630 HRL004 Hurler-Scheie Syndrome 40
1631 c BRD032 Bardet-Biedl Syndrome 14 40
1632 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
1633 c SPN308 Spinocerebellar Ataxia 28 39
1634 c BRD018 Bardet-Biedl Syndrome 6 39
1635 LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 39
1636 GNT006 Giant Papillary Conjunctivitis 39
1637 c ADL001 Adult Lymphoma 39
1638 c PST022 Posterior Uveal Melanoma 39
1639 HYP801 Hyperferritinemia with or Without Cataract 39
1640 c WRD032 Waardenburg Syndrome, Type 2a 39
1641 c AXN010 Axenfeld-Rieger Syndrome, Type 3 39
1642 DPM007 Dopamine Beta-Hydroxylase Deficiency, Congenital 39
1643 SLF014 Sulfite Oxidase Deficiency, Isolated 38
1644 c BRD035 Bardet-Biedl Syndrome 15 38
1645 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 38
1646 CHR492 Chromosome 13q14 Deletion Syndrome 38
1647 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 38
1648 c SPN304 Spinocerebellar Ataxia 8 38
1649 c GM2005 Gm2-Gangliosidosis, Ab Variant 38
1650 OPH002 Ophthalmia Neonatorum 38
1651 CRN247 Corneal Dystrophy, Thiel-Behnke Type 38
1652 c LKD009 Leukodystrophy, Hypomyelinating, 5 38
1653 P GNG010 Gangliosidosis Gm2 37
1654 P MRN003 Marinesco-Sjogren Syndrome 37
1655 c BRD017 Bardet-Biedl Syndrome 5 37
1656 c SPN097 Spinocerebellar Ataxia 23 37
1657 c MCR120 Microvascular Complications of Diabetes 7 37
1658 c PSD117 Pseudohypoparathyroidism, Type Ic 36
1659 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 36
1660 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
1661 c OST126 Osteopetrosis, Autosomal Recessive 1 36
1662 c STC015 Stickler Syndrome, Type I 36
1663 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 36
1664 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 36
1665 CNC014 Cancer-Associated Retinopathy 36
1666 BTT001 Bietti Crystalline Corneoretinal Dystrophy 36
1667 c SPN299 Spinocerebellar Ataxia 20 36
1668 TLS001 Tolosa-Hunt Syndrome 36
1669 CRN237 Corneal Dystrophy, Avellino Type 36
1670 c SPN094 Spinocerebellar Ataxia 18 36
1671 P LTT001 Lattice Corneal Dystrophy 35
1672 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 35
1673 c WRD024 Waardenburg Syndrome, Type 4c 35
1674 INF129 Infantile Cerebellar-Retinal Degeneration 35
1675 MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 35
1676 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 35
1677 c MCR133 Microvascular Complications of Diabetes 4 35
1678 JBR005 Joubert Syndrome with Ocular Anomalies 35
1679 c GM1005 Gm1-Gangliosidosis, Type Ii 35
1680 CNJ009 Conjunctival Cancer 34
1681 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34
1682 c MCP045 Mucopolysaccharidosis, Type Iiic 34
1683 c FML008 Familial Retinoblastoma 34
1684 c MCL016 Mucolipidosis Iii Gamma 34
1685 c BRD045 Bardet-Biedl Syndrome 19 34
1686 c WRD031 Waardenburg Syndrome, Type 3 34
1687 PRL047 Prolonged Electroretinal Response Suppression 34
1688 BLP004 Blepharophimosis 34
1689 c AXN012 Axenfeld-Rieger Syndrome, Type 2 34
1690 c HRM009 Hermansky-Pudlak Syndrome 6 33
1691 SPR034 Superior Limbic Keratoconjunctivitis 33
1692 c PSD104 Pseudohypoparathyroidism, Type Ii 33
1693 c CRN236 Corneal Dystrophy, Lattice Type I 33
1694 NRT011 Neurotrophic Keratopathy 33
1695 c BRD047 Bardet-Biedl Syndrome 16 33
1696 PLS030 Plasminogen Deficiency, Type I 33
1697 OCL048 Oculoauricular Syndrome 33
1698 c OST163 Osteopetrosis, Autosomal Recessive 3 33
1699 c MCR112 Microvascular Complications of Diabetes 2 33
1700 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
1701 FCH002 Fuchs' Heterochromic Uveitis 32
1702 c HRM011 Hermansky-Pudlak Syndrome 8 32
1703 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
1704 c SPN266 Spinocerebellar Ataxia 35 32
1705 c OST129 Osteopetrosis, Autosomal Recessive 2 32
1706 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 32
1707 CRN141 Corneal Dystrophy, Reis-Bucklers Type 32
1708 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 32
1709 c HRM012 Hermansky-Pudlak Syndrome 9 32
1710 c WRD010 Waardenburg Syndrome Type 4 32
1711 c PRX055 Peroxisome Biogenesis Disorder 11a 32
1712 c SPN101 Spinocerebellar Ataxia 29 32
1713 LCR013 Lacrimal Duct Defect 32
1714 MBM001 Meibomian Cyst 32
1715 c SPN105 Spinocerebellar Ataxia 4 31
1716 c ALB010 Albinism, Oculocutaneous, Type Ib 31
1717 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
1718 c SPN095 Spinocerebellar Ataxia 19 31
1719 c MCP046 Mucopolysaccharidosis, Type Iiid 31
1720 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 31
1721 c SPN099 Spinocerebellar Ataxia 26 31
1722 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 30
1723 c MCP048 Mucopolysaccharidosis, Type Ivb 30
1724 c OST134 Osteopetrosis, Autosomal Recessive 6 30
1725 c EYL003 Eye Lymphoma 30
1726 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 30
1727 OCL063 Oculopharyngodistal Myopathy 30
1728 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 30
1729 P ALB023 Albinism, Ocular, with Sensorineural Deafness 30
1730 c CCK002 Cockayne Syndrome Type I 30
1731 c SPN096 Spinocerebellar Ataxia 21 30
1732 PRG123 Progeroid Syndrome, Neonatal 30
1733 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
1734 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 30
1735 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
1736 c SPN104 Spinocerebellar Ataxia 34 29
1737 c WRD019 Waardenburg Syndrome, Type 4b 29
1738 c HRM020 Hermansky-Pudlak Syndrome 10 29
1739 c CCK003 Cockayne Syndrome Type Ii 29
1740 MCL018 Macular Dystrophy, Concentric Annular 29
1741 c ALB020 Albinism, Oculocutaneous, Type Iii 29
1742 c GM1006 Gm1-Gangliosidosis, Type Iii 29
1743 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 29
1744 c STC013 Stickler Syndrome, Type Ii 29
1745 CTR014 Cataract Microcornea Syndrome 29
1746 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
1747 c PRX063 Peroxisome Biogenesis Disorder 2a 29
1748 P XLN161 X-Linked Chondrodysplasia Punctata 29
1749 CHR270 Chromosome 9p Duplication 28
1750 c GCH013 Gaucher Disease, Type Iiic 28
1751 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 28
1752 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 28
1753 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 28
1754 FRN022 Frontofacionasal Dysplasia 28
1755 c BRD019 Bardet-Biedl Syndrome 7 28
1756 c HRM010 Hermansky-Pudlak Syndrome 7 28
1757 LGH003 Leigh Syndrome, French Canadian Type 28
1758 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 28
1759 P FRT001 Fourth Cranial Nerve Palsy 28
1760 c PRX060 Peroxisome Biogenesis Disorder 5a 28
1761 FML292 Familial Drusen 28
1762 PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 28
1763 TBL025 Tubulointerstitial Nephritis with Uveitis 28
1764 CRN021 Cornea Cancer 28
1765 c HRM007 Hermansky-Pudlak Syndrome 4 27
1766 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 27
1767 c SPN383 Spinocerebellar Ataxia 42 27
1768 LMB008 Limb-Mammary Syndrome 27
1769 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
1770 c MCR245 Microphthalmia, Syndromic 8 27
1771 c PRX053 Peroxisome Biogenesis Disorder 14b 27
1772 RTN035 Retinal Cone Dystrophy 3b 27
1773 c SPN098 Spinocerebellar Ataxia 25 27
1774 c PRX056 Peroxisome Biogenesis Disorder 11b 27
1775 3MT022 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 27
1776 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 27
1777 c SPN247 Spinocerebellar Ataxia Type 19/22 27
1778 c SPN283 Spinocerebellar Ataxia 37 27
1779 c ANR047 Aniridia 2 27
1780 c SPN284 Spinocerebellar Ataxia 38 27
1781 c ALG016 Alagille Syndrome 2 27
1782 P KRT014 Keratosis Follicularis Spinulosa Decalvans 26
1783 CLB009 Coloboma of Iris 26
1784 c MCR252 Microphthalmia, Syndromic 5 26
1785 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 26
1786 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 26
1787 c PRX054 Peroxisome Biogenesis Disorder 12a 26
1788 c SPN372 Spinocerebellar Ataxia 43 26
1789 CRN238 Corneal Dystrophy, Epithelial Basement Membrane 26
1790 c CRN134 Cornelia De Lange Syndrome 2 26
1791 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
1792 CNR005 Cone-Rod Dystrophy 3 26
1793 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
1794 c CHN018 Chondrodysplasia Punctata 2, X-Linked 25
1795 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 25
1796 HYP180 Hypertrichosis Lanuginosa Congenita 25
1797 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 25
1798 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
1799 c BRD050 Bardet-Biedl Syndrome 21 25
1800 c CCK004 Cockayne Syndrome Type Iii 25
1801 CNG466 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome 25
1802 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 25
1803 CNR003 Cone-Rod Dystrophy 1 25
1804 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 25
1805 c OST136 Osteopetrosis, Autosomal Recessive 7 25
1806 c CRN160 Corneal Dystrophy, Lattice Type Iiia 25
1807 ACT120 Acute Zonal Occult Outer Retinopathy 25
1808 BLD161 Blood Group, Globoside System 24
1809 CRL001 Cerulean Cataract 24
1810 ATY030 Atypical Pantothenate Kinase-Associated Neurodegeneration 24
1811 c PRX065 Peroxisome Biogenesis Disorder 3a 24
1812 c PRX091 Peroxisome Biogenesis Disorder 8a 24
1813 VTR018 Vitreoretinal Degeneration, Snowflake Type 24
1814 SRP002 Serpiginous Choroiditis 24
1815 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 24
1816 c PRX057 Peroxisome Biogenesis Disorder 4a 24
1817 c KBK003 Kabuki Syndrome 2 24
1818 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
1819 CHR252 Chromosome 5p Duplication 24
1820 c PRX048 Peroxisome Biogenesis Disorder 10a 24
1821 c PRX046 Peroxisome Biogenesis Disorder 7a 24
1822 EDC001 Edict Syndrome 24
1823 c SPN286 Spinocerebellar Ataxia 40 24
1824 CRN235 Corneal Dystrophy, Groenouw Type I 24
1825 PLL009 Pellucid Marginal Degeneration 23
1826 c STS007 Sotos Syndrome 2 23
1827 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 23
1828 c ATX033 Ataxia-Oculomotor Apraxia 4 23
1829 c CRN209 Cornelia De Lange Syndrome 5 23
1830 c OST125 Osteopetrosis, Autosomal Dominant 1 23
1831 c OST106 Osteopetrosis, Autosomal Recessive 8 23
1832 c PRX052 Peroxisome Biogenesis Disorder 13a 23
1833 c BRD021 Bardet-Biedl Syndrome 9 23
1834 c STR040 Stargardt Disease 3 23
1835 CHR167 Chorioretinal Atrophy, Progressive Bifocal 23
1836 c SPN323 Spinocerebellar Ataxia 41 23
1837 MCR067 Microcoria, Congenital 23
1838 CGN001 Cogan-Reese Syndrome 23
1839 c OST120 Osteopetrosis, Autosomal Recessive 5 23
1840 c PRX043 Peroxisome Biogenesis Disorder 6b 22
1841 c ANR046 Aniridia 3 22
1842 c WRD029 Waardenburg Syndrome, Type 2b 22
1843 c PRX051 Peroxisome Biogenesis Disorder 6a 22
1844 c OST137 Osteopetrosis, Autosomal Recessive 4 22
1845 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 22
1846 c FRD006 Friedreich Ataxia 2 22
1847 c LTT008 Lattice Corneal Dystrophy Type Ii 22
1848 GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 22
1849 c PRX050 Peroxisome Biogenesis Disorder 9b 22
1850 c CRN215 Cornelia De Lange Syndrome 4 22
1851 c PRX058 Peroxisome Biogenesis Disorder 4b 22
1852 CHR241 Chromosome 2q24 Microdeletion Syndrome 22
1853 c CRN135 Cornelia De Lange Syndrome 3 22
1854 c BRD051 Bardet-Biedl Syndrome 20 22
1855 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
1856 c PRX047 Peroxisome Biogenesis Disorder 5b 22
1857 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 22
1858 c PRX062 Peroxisome Biogenesis Disorder 8b 21
1859 c SPS198 Spastic Paraplegia 16, X-Linked 21
1860 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 21
1861 c FML223 Familial Keratoacanthoma 21
1862 NRD031 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 21
1863 c SPN259 Spinocerebellar Ataxia 32 21
1864 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
1865 CNR031 Cone-Rod Dystrophy, X-Linked, 1 21
1866 c WRD022 Waardenburg Syndrome, Type 2d 21
1867 CNR006 Cone-Rod Dystrophy 5 21
1868 PRT015 Partial Third-Nerve Palsy 21
1869 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
1870 c SPN420 Spinocerebellar Ataxia 46 21
1871 c TRC071 Treacher Collins Syndrome 3 21
1872 c KRT029 Keratoconus 1 21
1873 SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 21
1874 YHV001 You-Hoover-Fong Syndrome 21
1875 RNG003 Ring Dermoid of Cornea 21
1876 c SPN419 Spinocerebellar Ataxia 45 20
1877 CTR027 Cataract-Glaucoma 20
1878 RTH002 Rutherfurd Syndrome 20
1879 c SPN418 Spinocerebellar Ataxia 44 20
1880 c PRX066 Peroxisome Biogenesis Disorder 3b 20
1881 CLB011 Coloboma of Macula with Type B Brachydactyly 20
1882 c ECT098 Ectopia Lentis 1, Isolated, Autosomal Dominant 20
1883 c SPN102 Spinocerebellar Ataxia 30 20
1884 RRS002 Rare Isolated Myopia 20
1885 c TRC073 Treacher Collins Syndrome 2 20
1886 SBR011 Subaortic Stenosis--Short Stature Syndrome 20
1887 RDR002 Rodrigues Blindness 20
1888 c SPS062 Spastic Paraplegia 34, X-Linked 20
1889 MLG070 Malignant Iris Melanoma 19
1890 c RTH005 Rothmund-Thomson Syndrome Type 2 19
1891 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 19
1892 c ECT101 Ectopia Lentis 2, Isolated, Autosomal Recessive 19
1893 P PRX064 Peroxisome Biogenesis Disorder 2b 19
1894 c SPN107 Spinocerebellar Ataxia 9 19
1895 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 19
1896 MCR330 Microphthalmia, Isolated, with Cataract 1 18
1897 DRM015 Dermoids of Cornea 18
1898 BRW002 Brown's Tendon Sheath Syndrome 18
1899 c CRN068 Corneal Endothelial Dystrophy Type 2 18
1900 c PRX068 Peroxisome Biogenesis Disorder 7b 18
1901 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1902 CHR171 Choroideremia Hypopituitarism 18
1903 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 18
1904 c FRT006 Fourth Cranial Nerve Palsy, Familial Congenital 18
1905 RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 18
1906 c PRX089 Peroxisome Biogenesis Disorder 10b 18
1907 CLB008 Coloboma of Eye Lens 17
1908 c STS009 Sotos Syndrome 3 17
1909 BRK013 Birk-Landau-Perez Syndrome 17
1910 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 17
1911 c CHR449 Choroidal Dystrophy, Central Areolar 2 17
1912 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 17
1913 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 17
1914 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 17
1915 c RTH004 Rothmund-Thomson Syndrome Type 1 17
1916 c CHR665 Choroidal Dystrophy, Central Areolar, 3 17
1917 CTR154 Cataract, Aberrant Oral Frenula, and Growth Retardation 17
1918 BLP042 Blepharoptosis, Myopia, and Ectopia Lentis 17
1919 c SPN421 Spinocerebellar Ataxia 47 17
1920 c WRD026 Waardenburg Syndrome, Type 2c 17
1921 RTN211 Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract 17
1922 LCR012 Lacrimal System Cancer 17
1923 DYS181 Dyssegmental Dysplasia with Glaucoma 17
1924 AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 17
1925 c SPN336 Spinocerebellar Ataxia Type 16 17
1926 c STR054 Stargardt Disease 4 16
1927 c KRT073 Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 16
1928 ISL067 Isolated Congenital Megalocornea 16
1929 MCR242 Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 16
1930 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 15
1931 MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 15
1932 CNR039 Cone-Rod Dystrophy, X-Linked, 2 15
1933 CNG457 Congenital Oculomotor Nerve Palsy 15
1934 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 15
1935 PTS017 Ptosis, Strabismus, and Ectopic Pupils 15
1936 c KRT053 Keratoconus 7 15
1937 MLG062 Malignant Ciliary Body Melanoma 14
1938 c CHN017 Chondrodysplasia Punctata 1, X-Linked 14
1939 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 14
1940 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 14
1941 ACT235 Acute Macular Neuroretinopathy 14
1942 c PSD023 Pseudo-Gaucher Disease 14
1943 c TYS005 Tay-Sachs Disease, B1 Variant 14
1944 CLB032 Coloboma of Macula and Skeletal Anomalies 14
1945 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 14
1946 c KRT050 Keratoconus 5 14
1947 GLC088 Glaucoma and Sleep Apnea 14
1948 MLG061 Malignant Choroid Melanoma 13
1949 CNG508 Congenital Corneal Opacities, Cornea Guttata, and Corectopia 13
1950 NRS002 Neuroaspergillosis 13
1951 LGH017 Leigh Syndrome with Nephrotic Syndrome 13
1952 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 12
1953 c KRT052 Keratoconus 6 12
1954 c KRT054 Keratoconus 8 12
1955 CNG362 Congenital Trochlear Nerve Palsy 12
1956 MCR069 Microcornea Corectopia Macular Hypoplasia 12
1957 c ACQ026 Acquired Pseudoxanthoma Elasticum 12
1958 CLR122 Ciliary Body Cancer 12
1959 NRV002 Nerve Fibre Bundle Defect 11
1960 c MLN039 Melanoma, Uveal 1 11
1961 TTL002 Total Third-Nerve Palsy 10
1962 c KRT075 Keratoconus 9 10
1963 c MLN041 Melanoma, Uveal 2 10
1964 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 10
1965 c KRT040 Keratoconus 3 10
1966 c KRT039 Keratoconus 2 10
1967 c KRT041 Keratoconus 4 10
1968 CHR045 Choroid Necrotic Melanoma 9
1969 c HLL012 Hallermann-Streiff-Like Syndrome 9
1970 NCR008 Necrotic Uveal Melanoma 9
1971 CNJ005 Conjunctival Vascular Disease 9
1972 LCR005 Lacrimal Duct Cancer 9
1973 c CLC009 Clcn7-Related Osteopetrosis 9
1974 c GRD008 Grid2-Related Spinocerebellar Ataxia 9
1975 RCR030 Recurrent Idiopathic Neuroretinitis 9
1976 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 8
1977 NBL002 Noble Bass Sherman Syndrome 8
1978 CHR011 Choroid Spindle Cell Melanoma 8
1979 CLR002 Ciliary Body Spindle Cell Melanoma 8
1980 MXD040 Mixed Cell Uveal Melanoma 8
1981 CHR448 Choroid Mixed Cell Melanoma 8
1982 MLG052 Malignant Cornea Melanoma 8
1983 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 8
1984 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 8
1985 OLG018 Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 8
1986 OLG019 Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 8
1987 CNG458 Congenital Abducens Nerve Palsy 7
1988 IRS001 Iris Spindle Cell Melanoma 7
1989 ORB004 Orbital Osteomyelitis 7
1990 c GM2001 Gm2 Gangliosidosis, 0 Variant 7
1991 CHR002 Chronic Lacrimal Gland Enlargement 7
1992 UVL002 Uveal Epithelioid Cell Melanoma 6
1993 CHR014 Choroid Epithelioid Cell Melanoma 6
1994 PRL002 Prolapse of Lacrimal Gland 6
1995 SRS003 Serous Conjunctivitis Except Viral 6
1996 DPC001 Deep Corneal Vascularisation 6
1997 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 6
1998 ERL041 Early-Onset Zonular Cataract 6
1999 EXT057 Extensive Peripapillary Myelinated Nerve Fibers 6
2000 NRT003 Neurotrophic Keratoconjunctivitis 6
2001 CLR008 Ciliary Body Mixed Cell Melanoma 6
2002 IRS002 Iris Mixed Cell Melanoma 6
2003 INT023 Intermediate Cell Type Ciliary Body Melanoma 6
2004 CLR004 Ciliary Body Epithelioid Cell Melanoma 6
2005 PRM142 Primary Oculocerebral Lymphoma 5
2006 c OCL037 Oculodentodigital Dysplasia Dominant 5
2007 c MRN006 Marinesco-Sjogren-Like Syndrome 5
2008 NRG007 Neurogenic Palpebral Tumor 4
2009 P RTN024 Retinoblastoma 70
2010 VNH007 Von Hippel-Lindau Syndrome 69
2011 ABL002 Ablepharon-Macrostomia Syndrome 54
2012 MRC002 Marcus Gunn Phenomenon 50
2013 P MCR241 Microphthalmia, Syndromic 3 38
2014 c MCR251 Microphthalmia, Syndromic 6 30
2015 c MCR262 Microphthalmia, Syndromic 4 23
2016 c MCR312 Microphthalmia, Syndromic 10 20
2017 c OPT030 Optic Nerve Hypoplasia, Familial Bilateral 7
2018 WYB001 Wyburn Mason's Syndrome 27
2019 FLR001 Filarial Elephantiasis 37
2020 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 25
2021 P ATX030 Ataxia-Telangiectasia 79
2022 P NNN008 Noonan Syndrome 1 77
2023 ACR006 Aceruloplasminemia 73
2024 WLS001 Wilson Disease 71
2025 PTZ001 Peutz-Jeghers Syndrome 70
2026 P SPR120 Supranuclear Palsy, Progressive, 1 70
2027 c EXD008 Exudative Vitreoretinopathy 1 69
2028 c NMN015 Niemann-Pick Disease, Type C1 68
2029 MSC157 Muscular Dystrophy, Duchenne Type 68
2030 P DYS007 Dyskeratosis Congenita 67
2031 LGH007 Leigh Syndrome 67
2032 P SRC025 Sarcoidosis 1 66
2033 NVS017 Nevus, Epidermal 66
2034 P CCK001 Cockayne Syndrome 63
2035 MNK001 Menkes Disease 63
2036 RFS006 Refsum Disease, Classic 62
2037 CNC002 Cinca Syndrome 62
2038 P HRM001 Hermansky-Pudlak Syndrome 62
2039 LWC002 Lowe Oculocerebrorenal Syndrome 61
2040 NRR002 Norrie Disease 61
2041 CNG008 Congenital Ichthyosiform Erythroderma 60
2042 P NMN002 Niemann-Pick Disease 60
2043 INC021 Incontinentia Pigmenti 59
2044 P MCK013 Meckel Syndrome, Type 1 59
2045 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 59
2046 STR039 Sturge-Weber Syndrome 59
2047 c MCP004 Mucopolysaccharidosis Iv 59
2048 c NMN013 Niemann-Pick Disease, Type a 59
2049 c ORF040 Orofaciodigital Syndrome Viii 58
2050 LCR014 Lacrimoauriculodentodigital Syndrome 58
2051 c GCH015 Gaucher Disease, Type I 57
2052 P ALL008 Allergic Bronchopulmonary Aspergillosis 57
2053 ALX003 Alexander Disease 57
2054 FCL009 Focal Dermal Hypoplasia 57
2055 P GRS003 Griscelli Syndrome 56
2056 c PSD108 Pseudohypoparathyroidism, Type Ia 56
2057 P SNR003 Senior-Loken Syndrome 1 55
2058 NLP001 Nail-Patella Syndrome 55
2059 P CNG001 Congenital Myasthenic Syndrome 55
2060 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 55
2061 OST024 Osteoporosis-Pseudoglioma Syndrome 55
2062 NNT017 Neonatal Adrenoleukodystrophy 52
2063 SCH068 Schwartz-Jampel Syndrome, Type 1 52
2064 OCL008 Oculopharyngeal Muscular Dystrophy 52
2065 MBS002 Moebius Syndrome 51
2066 P SHR029 Short Syndrome 51
2067 MLT163 Multiple Pterygium Syndrome, Escobar Variant 51
2068 HYP691 Hypomelanosis of Ito 51
2069 MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 51
2070 CHN055 Chanarin-Dorfman Syndrome 51
2071 P EXD001 Exudative Vitreoretinopathy 50
2072 JCB001 Jacobsen Syndrome 50
2073 c RBN021 Rubinstein-Taybi Syndrome 1 49
2074 ELS001 Eales Disease 49
2075 c NNN010 Noonan Syndrome 3 49
2076 P BRT029 Brittle Cornea Syndrome 2 49
2077 ADL002 Adult Syndrome 49
2078 c ORF037 Orofaciodigital Syndrome I 48
2079 P ORF001 Orofaciodigital Syndrome 48
2080 c GCH017 Gaucher Disease, Type Iii 47
2081 NNN026 Noonan Syndrome with Multiple Lentigines 46
2082 VCS001 Vici Syndrome 46
2083 ADM013 Adamantinoma of Long Bones 45
2084 c GCH016 Gaucher Disease, Type Ii 44
2085 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 44
2086 KDS001 Kid Syndrome 43
2087 c HRM017 Hermansky-Pudlak Syndrome 2 43
2088 P AMY084 Amyloidosis, Finnish Type 43
2089 c SHR030 Short Qt Syndrome 43
2090 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 43
2091 c OST131 Osteopetrosis, Autosomal Dominant 2 43
2092 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 43
2093 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 42
2094 P ISL078 Isolated Ectopia Lentis 42
2095 c ORF034 Orofaciodigital Syndrome Vi 42
2096 c NMN016 Niemann-Pick Disease, Type B 42
2097 P BLP047 Blepharocheilodontic Syndrome 1 42
2098 ADP007 Adie Pupil 41
2099 P PRS062 Persistent Hyperplastic Primary Vitreous 40
2100 DBT090 Diabetes and Deafness, Maternally Inherited 40
2101 ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 40
2102 MLG142 Malignant Conjunctival Melanoma 39
2103 c NMN014 Niemann-Pick Disease, Type C2 38
2104 MLN014 Melnick-Needles Syndrome 38
2105 NNC002 Nance-Horan Syndrome 38
2106 P HYP599 Hypoparathyroidism, Familial Isolated 37
2107 CRN106 Corneal Dystrophy, Gelatinous Drop-Like 37
2108 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 36
2109 c MNT135 Mental Retardation, X-Linked, Syndromic 13 36
2110 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 35
2111 BRB006 Barber-Say Syndrome 35
2112 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 35
2113 c SPN366 Spinocerebellar Ataxia with Axonal Neuropathy Type 2 35
2114 LYS018 Loeys-Dietz Syndrome 2 35
2115 WRN004 Wrinkly Skin Syndrome 35
2116 c NNN012 Noonan Syndrome 5 34
2117 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34
2118 c ORF035 Orofaciodigital Syndrome Iv 34
2119 c FML294 Familial Short Qt Syndrome 33
2120 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 33
2121 ACR025 Acrocephalopolydactylous Dysplasia 32
2122 c NNN011 Noonan Syndrome 4 32
2123 P SPN410 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 31
2124 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 31
2125 c MCK033 Meckel Syndrome, Type 4 31
2126 MXD003 Mixed Lacrimal Gland Cancer 31
2127 PHC006 Phacomatosis Pigmentovascularis 31
2128 c MCK012 Meckel Syndrome, Type 6 30
2129 c MCK030 Meckel Syndrome, Type 7 30
2130 CLB026 Colobomatous Microphthalmia 30
2131 P MLT048 Multiple Familial Trichoepithelioma 30
2132 c SRC023 Sarcoidosis 2 29
2133 ABD002 Abducens Nerve Disease 29
2134 PRK087 Parkinson-Dementia Syndrome 29
2135 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 29
2136 c DYS039 Dyskeratosis Congenita Autosomal Dominant 29
2137 LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 29
2138 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 29
2139 CNJ018 Conjunctival Squamous Cell Carcinoma 28
2140 c BRT028 Brittle Cornea Syndrome 1 28
2141 c MNT185 Mental Retardation, Autosomal Dominant 7 28
2142 P MNT319 Mental Retardation, Autosomal Dominant 20 28
2143 MGL033 Megalocornea-Mental Retardation Syndrome 28
2144 c NNN021 Noonan Syndrome 8 28
2145 c NNN024 Noonan Syndrome 9 27
2146 LCR009 Lacrimal Gland Adenocarcinoma 27
2147 c ORF033 Orofaciodigital Syndrome V 27
2148 c MNT212 Mental Retardation, Autosomal Dominant 26 27
2149 c NNN025 Noonan Syndrome 10 26
2150 c MNT145 Mental Retardation, Autosomal Recessive 5 26
2151 c NNN013 Noonan Syndrome 6 26
2152 LCR011 Lacrimal Gland Carcinoma 26
2153 c DYS040 Dyskeratosis Congenita Autosomal Recessive 26
2154 c MNT296 Mental Retardation, X-Linked, Syndromic 34 26
2155 c MNT143 Mental Retardation, Autosomal Dominant 13 26
2156 c NNN009 Noonan Syndrome 2 26
2157 c MCK032 Meckel Syndrome, Type 3 26
2158 c MNT210 Mental Retardation, Autosomal Recessive 42 25
2159 c ORF038 Orofaciodigital Syndrome Iii 25
2160 c MNT157 Mental Retardation, Autosomal Dominant 18 25
2161 c MNT280 Mental Retardation, Autosomal Dominant 43 25
2162 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 25
2163 c MNT158 Mental Retardation, Autosomal Dominant 22 25
2164 c MNT322 Mental Retardation, Autosomal Dominant 27 25
2165 CRN045 Corneal Dystrophy and Perceptive Deafness 25
2166 c MNT295 Mental Retardation, X-Linked, Syndromic 33 25
2167 c ORF041 Orofaciodigital Syndrome X 25
2168 c MNT270 Mental Retardation, Autosomal Recessive 53 25
2169 DFN256 Deafness and Myopia 25
2170 c MNT241 Mental Retardation, Autosomal Dominant 32 24
2171 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 24
2172 c ORF043 Orofaciodigital Syndrome Ix 24
2173 c MNT166 Mental Retardation, Autosomal Recessive 39 24
2174 c MNT222 Mental Retardation, Autosomal Dominant 29 24
2175 c MNT214 Mental Retardation, Autosomal Dominant 24 24
2176 c ORF036 Orofaciodigital Syndrome Xiv 24
2177 c MNT287 Mental Retardation, Autosomal Recessive 57 24
2178 P MNT298 Mental Retardation, X-Linked, Syndromic, 35 24
2179 c MNT246 Mental Retardation, Autosomal Dominant 38 24
2180 c MNT213 Mental Retardation, Autosomal Recessive 40 24
2181 PTR030 Pterygium of Conjunctiva and Cornea 24
2182 c MCK031 Meckel Syndrome, Type 2 23
2183 c MNT242 Mental Retardation, Autosomal Dominant 40 23
2184 c ORF042 Orofaciodigital Syndrome Xi 23
2185 c NNN020 Noonan Syndrome 7 23
2186 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 23
2187 c MNT150 Mental Retardation, Autosomal Recessive 15 23
2188 c MNT239 Mental Retardation, Autosomal Dominant 35 23
2189 c MNT155 Mental Retardation, Autosomal Recessive 2 23
2190 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 23
2191 c MNT219 Mental Retardation, Autosomal Dominant 30 23
2192 c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23
2193 c MNT262 Mental Retardation, Autosomal Dominant 42 23
2194 c FML249 Familial Amyloidosis, Finnish Type 23
2195 c ORF046 Orofaciodigital Syndrome Xvi 23
2196 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
2197 c MCK034 Meckel Syndrome, Type 8 23
2198 c MNT226 Mental Retardation, Autosomal Dominant 31 23
2199 c MNT216 Mental Retardation, Autosomal Recessive 41 23
2200 c MNT176 Mental Retardation, Autosomal Recessive 38 23
2201 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 23
2202 c MNT321 Mental Retardation, Autosomal Recessive 37 23
2203 RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 22
2204 c MNT238 Mental Retardation, Autosomal Dominant 34 22
2205 c MNT183 Mental Retardation, Autosomal Recessive 36 22
2206 c MNT273 Mental Retardation, Autosomal Dominant 44 22
2207 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 22
2208 c SHR032 Short Qt Syndrome 2 22
2209 CYS045 Cystinosis, Adult Nonnephropathic 22
2210 c MNT282 Mental Retardation, Autosomal Recessive 55 22
2211 c MCK014 Meckel Syndrome, Type 5 22
2212 c MNT159 Mental Retardation, Autosomal Dominant 19 22
2213 c MNT221 Mental Retardation, Autosomal Recessive 44 22
2214 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 22
2215 c MNT211 Mental Retardation, Autosomal Dominant 23 22
2216 c MNT191 Mental Retardation, X-Linked, Syndromic 17 22
2217 c MCK035 Meckel Syndrome, Type 10 22
2218 c ORF045 Orofaciodigital Syndrome Xv 22
2219 c MCK026 Meckel Syndrome 12 22
2220 HYP683 Hypogonadism-Cataract Syndrome 22
2221 c MNT245 Mental Retardation, Autosomal Dominant 36 22
2222 c MNT181 Mental Retardation, Autosomal Recessive 35 22
2223 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 22
2224 c MNT236 Mental Retardation, Autosomal Dominant 39 21
2225 c TRC095 Trichoepithelioma, Multiple Familial, 1 21
2226 c MNT244 Mental Retardation, Autosomal Recessive 49 21
2227 c MNT207 Mental Retardation, X-Linked, Syndromic 32 21
2228 c MNT179 Mental Retardation, Autosomal Dominant 21 21
2229 c MNT227 Mental Retardation, Autosomal Recessive 46 21
2230 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
2231 c MNT325 Mental Retardation, Autosomal Recessive 61 21
2232 c MNT177 Mental Retardation, Autosomal Recessive 27 21
2233 c MNT240 Mental Retardation, Autosomal Dominant 33 21
2234 c MNT285 Mental Retardation, Autosomal Recessive 58 21
2235 c ATP003 Atp6v0a2-Related Cutis Laxa 21
2236 c SNR016 Senior-Loken Syndrome 9 21
2237 c MNT323 Mental Retardation, Autosomal Dominant 48 21
2238 c MNT234 Mental Retardation, Autosomal Recessive 48 20
2239 c SNR015 Senior-Loken Syndrome 8 20
2240 c MNT220 Mental Retardation, Autosomal Recessive 45 20
2241 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 20
2242 c SNR011 Senior-Loken Syndrome 3 20
2243 c SNR004 Senior-Loken Syndrome 4 20
2244 c MCK036 Meckel Syndrome, Type 9 20
2245 c MNT154 Mental Retardation, Autosomal Recessive 14 20
2246 c SHR031 Short Qt Syndrome 1 20
2247 c SNR007 Senior-Loken Syndrome 7 20
2248 c MNT328 Mental Retardation, Autosomal Dominant 52 20
2249 c MNT275 Mental Retardation, Autosomal Recessive 60 20
2250 c MNT215 Mental Retardation, Autosomal Recessive 43 20
2251 c MNT225 Mental Retardation, Autosomal Recessive 47 20
2252 c MCK028 Meckel Syndrome 13 20
2253 c SHR033 Short Qt Syndrome 3 20
2254 ANR043 Aniridia and Absent Patella 19
2255 c MNT272 Mental Retardation, Autosomal Dominant 41 19
2256 c MNT324 Mental Retardation, Autosomal Dominant 49 19
2257 c MNT263 Mental Retardation, Autosomal Recessive 51 19
2258 c MNT162 Mental Retardation, Autosomal Recessive 24 19
2259 c MCK020 Meckel Syndrome, Type 11 19
2260 c SPR049 Supranuclear Palsy, Progressive, 2 19
2261 c MNT163 Mental Retardation, Autosomal Recessive 30 19
2262 c MNT329 Mental Retardation, Autosomal Dominant 53 19
2263 c MNT286 Mental Retardation, Autosomal Dominant 45 18
2264 c ORF052 Orofaciodigital Syndrome Xviii 18
2265 c MNT172 Mental Retardation, Autosomal Recessive 25 18
2266 c MNT197 Mental Retardation, X-Linked, Syndromic 9 18
2267 c MNT327 Mental Retardation, Autosomal Dominant 51 18
2268 c ORF051 Orofaciodigital Syndrome Xvii 18
2269 c MNT167 Mental Retardation, Autosomal Recessive 16 18
2270 c MNT165 Mental Retardation, Autosomal Recessive 28 18
2271 c SNR005 Senior-Loken Syndrome 5 18
2272 c MNT180 Mental Retardation, Autosomal Recessive 33 18
2273 c MNT264 Mental Retardation, Autosomal Recessive 52 18
2274 c MNT330 Mental Retardation, Autosomal Dominant 54 18
2275 c MNT326 Mental Retardation, Autosomal Dominant 50 18
2276 c SNR006 Senior-Loken Syndrome 6 18
2277 c MNT151 Mental Retardation, Autosomal Recessive 18 18
2278 c MNT186 Mental Retardation, Autosomal Dominant 10 18
2279 c MNT184 Mental Retardation, Autosomal Dominant 11 18
2280 c MNT277 Mental Retardation, Autosomal Recessive 54 18
2281 c MNT279 Mental Retardation, Autosomal Dominant 47 18
2282 c MNT182 Mental Retardation, Autosomal Recessive 19 18
2283 c MNT281 Mental Retardation, Autosomal Recessive 59 18
2284 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 18
2285 c MNT243 Mental Retardation, Autosomal Recessive 50 18
2286 c MNT170 Mental Retardation, Autosomal Recessive 23 17
2287 c MNT278 Mental Retardation, Autosomal Dominant 46 17
2288 c MNT284 Mental Retardation, Autosomal Recessive 56 17
2289 c MNT161 Mental Retardation, Autosomal Recessive 29 17
2290 CHM001 Cahmr Syndrome 17
2291 c TRC094 Trichoepithelioma, Multiple Familial, 2 17
2292 c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 16
2293 c MNT160 Mental Retardation, Autosomal Recessive 31 16
2294 CRN069 Corneal Hypesthesia, Familial 16
2295 c SRC024 Sarcoidosis 3 16
2296 c BLP049 Blepharocheilodontic Syndrome 2 16
2297 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 15
2298 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 15
2299 c ORF039 Orofaciodigital Syndrome Vii 15
2300 c MNT332 Mental Retardation, Autosomal Dominant 56 14
2301 c ORF006 Orofaciodigital Syndrome 13 13
2302 c ORF005 Orofaciodigital Syndrome 12 13
2303 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 12
2304 c SPR048 Supranuclear Palsy, Progressive, 3 10
2305 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 9
2306 RHM031 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 8
2307 RHM030 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 8
2308 c ATS394 Autosomal Dominant Mental Retardation 55 8
2309 c ATS395 Autosomal Dominant Mental Retardation 61 8
2310 CRN001 Cornea Squamous Cell Carcinoma 8
2311 CNJ015 Conjunctivitis with Pseudomembrane 6
2312 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 6
2313 P CRB048 Cerebral Cavernous Malformations 57
2314 c CRB191 Cerebral Cavernous Malformations 2 49
2315 c CRB094 Cerebral Cavernous Malformations 3 37
2316 c CRB051 Cerebral Cavernous Malformation, Familial 29
2317 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32
2318 P ALG028 Alagille Syndrome 1 73
2319 P FRG001 Fragile X Syndrome 69
2320 SMT004 Smith-Lemli-Opitz Syndrome 68
2321 P PRP003 Porphyria Cutanea Tarda 66
2322 P PLZ001 Pelizaeus-Merzbacher Disease 66
2323 BSL036 Basal Cell Nevus Syndrome 65
2324 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 64
2325 ABT001 Abetalipoproteinemia 63
2326 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 60
2327 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
2328 WLK001 Walker-Warburg Syndrome 59
2329 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 59
2330 P MLN066 Melanoma, Cutaneous Malignant 1 59
2331 MRT001 Muir-Torre Syndrome 58
2332 CYS005 Cysticercosis 56
2333 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 56
2334 RBR001 Roberts Syndrome 55
2335 PSD014 Pseudopseudohypoparathyroidism 55
2336 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
2337 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 54
2338 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 53
2339 P SJG002 Sjogren-Larsson Syndrome 51
2340 c WRD033 Waardenburg Syndrome, Type 2e 51
2341 MSC077 Muscle Eye Brain Disease 50
2342 c GRS014 Griscelli Syndrome, Type 2 49
2343 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
2344 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 49
2345 c ALP073 Alport Syndrome, Autosomal Recessive 48
2346 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 48
2347 c GRS013 Griscelli Syndrome, Type 1 47
2348 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 46
2349 P ALP074 Alport Syndrome, Autosomal Dominant 45
2350 TTZ003 Tietz Albinism-Deafness Syndrome 44
2351 CNT060 Central Serous Chorioretinopathy 44
2352 BRK001 Brooke-Spiegler Syndrome 44
2353 MRS002 Marshall Syndrome 44
2354 MLT152 Multiple Self-Healing Squamous Epithelioma 43
2355 DNR002 Duane-Radial Ray Syndrome 43
2356 DBW001 Dubowitz Syndrome 43
2357 SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 42
2358 MRT007 Martsolf Syndrome 41
2359 c GRS012 Griscelli Syndrome, Type 3 39
2360 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 37
2361 AYM001 Ayme-Gripp Syndrome 37
2362 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
2363 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 37
2364 GLL028 Gillespie Syndrome 33
2365 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 33
2366 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
2367 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 32
2368 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
2369 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 31
2370 CYL004 Cylindromatosis, Familial 31
2371 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 31
2372 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 31
2373 P MSC002 Muscular Dystrophy-Dystroglycanopathy 30
2374 c PLZ002 Pelizaeus-Merzbacher-Like Disease 29
2375 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28
2376 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28
2377 RHY001 Rhyns Syndrome 27
2378 c MLN043 Melanoma, Cutaneous Malignant 8 27
2379 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 27
2380 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
2381 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27
2382 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27
2383 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 27
2384 HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 26
2385 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
2386 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
2387 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25
2388 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 25
2389 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25
2390 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
2391 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
2392 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 24
2393 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
2394 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
2395 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24
2396 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 23
2397 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 23
2398 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 23
2399 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23
2400 CRN070 Corneodermatoosseous Syndrome 22
2401 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
2402 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 22
2403 IRV001 Irvan Syndrome 22
2404 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22
2405 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 22
2406 LWR016 Lowry-Maclean Syndrome 21
2407 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 21
2408 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 21
2409 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 20
2410 c MLN067 Melanoma, Cutaneous Malignant 2 20
2411 GMS002 Gms Syndrome 20
2412 c MLN075 Melanoma, Cutaneous Malignant 3 19
2413 c MLN077 Melanoma, Cutaneous Malignant 9 18
2414 c MLN055 Melanoma, Cutaneous Malignant 10 16
2415 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
2416 c MLN076 Melanoma, Cutaneous Malignant 5 16
2417 c MLN042 Melanoma, Cutaneous Malignant 6 15
2418 c MLN074 Melanoma, Cutaneous Malignant 4 15
2419 c MLN040 Melanoma, Cutaneous Malignant 7 14
2420 MCR207 Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma 13
2421 LCR007 Lacrimal Gland Squamous Cell Carcinoma 8
2422 c SJG003 Sjogren-Larsson-Like Syndrome 6
2423 c FRG004 Fragile X Syndrome Type 1 4
2424 c FRG005 Fragile X Syndrome Type 2 4
2425 c FRG006 Fragile X Syndrome Type 3 4
2426 EWN003 Ewing Sarcoma 68
2427 ALP046 Alport Syndrome, X-Linked 75
2428 PFF001 Pfeiffer Syndrome 73
2429 ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 69
2430 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 66
2431 JBR006 Joubert Syndrome with Oculorenal Anomalies 43
2432 RVS001 Revesz Syndrome 40
2433 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 37
2434 STR094 Stromme Syndrome 35
2435 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 31
2436 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 25
2437 CHR506 Choroideremia, Deafness, and Mental Retardation 24
2438 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 21
2439 P FML011 Familial Adenomatous Polyposis 71
2440 c FML346 Familial Adenomatous Polyposis 1 62
2441 NTH001 Netherton Syndrome 60
2442 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 25
2443 c FML299 Familial Adenomatous Polyposis 3 24
2444 c FML347 Familial Adenomatous Polyposis 2 22
2445 c FML339 Familial Adenomatous Polyposis 4 21



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