Eye Diseases Category (3060 diseases)


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

# Family MCID Name MIFTS
1 GYR004 Gyrate Atrophy of Choroid and Retina 51
2 c OPT053 Optic Atrophy 1 51
3 LBR002 Leber Hereditary Optic Neuropathy 59
4 c OPT068 Optic Atrophy 3, Autosomal Dominant 33
5 c 3MT016 3-Methylglutaconic Aciduria, Type Iii 62
6 LBR031 Leber Optic Atrophy and Dystonia 37
7 OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 37
8 NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 59
9 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 26
10 CLB003 Coloboma of Optic Nerve 45
11 OPT006 Optic Nerve Disease 60
12 CLR033 Color Vision Deficiency 41
13 SPT006 Septooptic Dysplasia 54
14 SPT019 Septo-Optic Dysplasia Spectrum 34
15 c FVL008 Foveal Hypoplasia 2 23
16 CRB058 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 22
17 P OPT070 Optic Nerve Hypoplasia, Bilateral 49
18 c OPT023 Optic Atrophy 2 22
19 OPT001 Optic Disk Drusen 38
20 c MCR124 Microphthalmia, Isolated 1 38
21 EYL005 Eyelid Disease 34
22 P MCR122 Microphthalmia, Isolated 5 31
23 c MCR137 Microphthalmia, Isolated 2 24
24 c MCR109 Microphthalmia, Isolated 4 23
25 c MCR114 Microphthalmia, Isolated 3 23
26 c MCR219 Microphthalmia, Isolated 8 22
27 c MCR108 Microphthalmia, Isolated 7 17
28 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy 20
29 LBR030 Leber Optic Atrophy 40
30 BHR001 Behr Syndrome 41
31 SCH038 Schopf-Schulz-Passarge Syndrome 35
32 SPS061 Spastic Paraplegia, Optic Atrophy, and Neuropathy 34
33 TRC055 Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina 16
34 P CLB034 Coloboma, Ocular, Autosomal Dominant 50
35 P PHS005 Peho Syndrome 38
36 c BLP048 Blepharospasm, Benign Essential 37
37 SHR058 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 28
38 c OPT071 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 17
39 P AGN002 Agnosia 56
40 P OPT009 Optic Neuritis 53
41 BSC005 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 33
42 CRB159 Cerebral Visual Impairment 29
43 c FRM002 Form Agnosia 15
44 P NRM001 Neuromyelitis Optica 66
45 c NRM008 Neuromyelitis Optica Spectrum Disorder 33
46 ICH066 Ichthyosis--Cheek--Eyebrow Syndrome 20
47 OPT005 Optic Nerve Astrocytoma 11
48 P RTN008 Retinitis Pigmentosa 79
49 RTN017 Retinal Detachment 59
50 TRT020 Tritanopia 48
51 BTT001 Bietti Crystalline Corneoretinal Dystrophy 43
52 CHS002 Chiasmal Syndrome 36
53 c OPT064 Optic Atrophy 11 24
54 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 22
55 ADT008 Auditory Neuropathy and Optic Atrophy 22
56 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 18
57 FLC002 Fleck Retina, Familial Benign 17
58 P ANR048 Aniridia 1 65
59 RTN018 Retinal Disease 56
60 P RTN016 Retinal Degeneration 53
61 ISC002 Ischemic Optic Neuropathy 49
62 P CLR019 Color Blindness 48
63 c LTN004 Late-Onset Retinal Degeneration 47
64 ALN001 Aland Island Eye Disease 46
65 VSL002 Visual Epilepsy 35
66 VSL003 Visual Agnosia 34
67 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 29
68 c EYL006 Eyelid Benign Neoplasm 25
69 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 24
70 VSL004 Visual Cortex Disease 19
71 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 18
72 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 15
73 VSL012 Visual Snow Syndrome 15
74 HYP742 Hyperpigmentation of Eyelids 12
75 CHL024 Childhood Optic Nerve Glioma 10
76 SHR049 Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome 9
77 VNS001 Venous Tributary Occlusion of Retina 8
78 BLT005 Bilateral Meningioma of Optic Nerve 8
79 CHL023 Childhood Optic Tract Astrocytoma 7
80 TRC077 Trichomegaly 41
81 SCT002 Scotoma 40
82 CVT001 Cavitary Optic Disc Anomalies 35
83 OPT002 Optic Nerve Sheath Meningioma 32
84 P HRD022 Hordeolum 32
85 OPT032 Optic Pathway Glioma 29
86 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 28
87 SPL058 Splenomegaly, Cytopenia, and Vision Loss 16
88 c INT047 Internal Hordeolum 14
89 CHR675 Chronic Relapsing Inflammatory Optic Neuropathy 13
90 P MYP006 Myopia 58
91 BNC002 Binocular Vision Disease 13
92 AST006 Astigmatism 47
93 P VTL001 Vitelliform Macular Dystrophy 38
94 P EYL002 Eyelid Carcinoma 33
95 OPT010 Optic Papillitis 32
96 P ATM076 Autoimmune Retinopathy 32
97 FST001 Foster-Kennedy Syndrome 27
98 CMB069 Combined Hamartoma of the Retina and Retinal Pigment Epithelium 22
99 VSL005 Visual Pathway Disease 20
100 SHR097 Short Tarsus with Absence of Lower Eyelashes 16
101 c ACQ001 Acquired Color Blindness 14
102 FLC004 Fleck Retina of Kandori 13
103 CNG395 Congenital Retinal Arteriovenous Communication 11
104 ATS326 Autosomal Recessive Isolated Optic Atrophy 11
105 MLG010 Malignant Eyelid Melanoma 10
106 ATM073 Autoimmune-Related Retinopathy and Optic Neuropathy 9
107 ANT020 Anterior Optic Tract Meningioma 8
108 NNN006 Noninfectious Dermatoses of Eyelid 8
109 ALL005 Allergic Contact Dermatitis of Eyelid 8
110 c NDP001 Ndp-Related Retinopathies 7
111 GLC005 Glaucomatous Atrophy of Optic Disc 7
112 PRS018 Parasitic Eyelid Infestation 6
113 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 6
114 CRT010 Crater-Like Holes of Optic Disc 6
115 GRW009 Growth Retardation Alopecia Pseudoanodontia Optic 6
116 CLB012 Coloboma of Optic Papilla 4
117 P ACH003 Achromatopsia 59
118 FND001 Fundus Albipunctatus 57
119 c LBR012 Leber Congenital Amaurosis 2 46
120 c LBR004 Leber Congenital Amaurosis 1 46
121 OCL052 Ocular Dominance 45
122 P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 38
123 PSD008 Pseudopapilledema 37
124 3MC001 3mc Syndrome 2 34
125 OCC002 Occult Macular Dystrophy 34
126 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 27
127 CMB047 Combined Oxidative Phosphorylation Deficiency 18 21
128 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 21
129 HRL006 Harel-Yoon Syndrome 20
130 c GLC092 Glaucoma, Primary Open Angle 58
131 c NGH026 Night Blindness, Congenital Stationary, Type 1a 57
132 OCL006 Ocular Hypertension 55
133 P PTS002 Ptosis 52
134 c STR084 Stargardt Disease 1 52
135 P OCL001 Ocular Albinism 49
136 ECT005 Ectropion 46
137 GLC098 Glaucoma-Related Pigment Dispersion Syndrome 46
138 P CND005 Cone Dystrophy 45
139 RFR003 Refractive Error 44
140 c LBR019 Leber Congenital Amaurosis 9 40
141 DST033 Distichiasis 38
142 c CNG513 Congenital Ptosis 36
143 c MCR211 Microphthalmia, Isolated 6 31
144 c LBR018 Leber Congenital Amaurosis 8 31
145 c LBR016 Leber Congenital Amaurosis 6 30
146 c CNR014 Cone-Rod Dystrophy 16 30
147 c NGH029 Night Blindness, Congenital Stationary, Type 1e 28
148 c RTN140 Retinitis Pigmentosa 67 28
149 c MCL059 Macular Dystrophy, Patterned, 1 28
150 c MCL070 Macular Dystrophy, Patterned, 3 28
151 AMT001 Ametropic Amblyopia 27
152 WGN007 Wagner Vitreoretinopathy 27
153 c PHL010 Peho-Like Syndrome 26
154 c LBR008 Leber Congenital Amaurosis 13 25
155 c OGC001 Oguchi Disease 1 25
156 c RTN166 Retinitis Pigmentosa 69 23
157 c ANR047 Aniridia 2 22
158 c MCL071 Macular Dystrophy, Patterned, 2 21
159 P PTT054 Patterned Macular Dystrophy 21
160 c STR054 Stargardt Disease 4 19
161 c MCL061 Macular Dystrophy, Vitelliform, 4 19
162 c MCL056 Macular Dystrophy, Vitelliform, 5 19
163 c GLC079 Glaucoma 1, Open Angle, P 18
164 c PTS010 Ptosis, Hereditary Congenital 2 17
165 c PTS018 Ptosis, Hereditary Congenital 1 17
166 c OGC002 Oguchi Disease 2 17
167 JVN026 Jeavons Syndrome 15
168 GRP007 Grouped Pigmentation of the Retina 14
169 P CNJ013 Conjunctivitis 63
170 VTR013 Vitreoretinopathy, Neovascular Inflammatory 62
171 c FRS014 Fraser Syndrome 1 50
172 AMB002 Amblyopia 49
173 KHN001 Kuhnt-Junius Degeneration 47
174 ALB002 Albinism 47
175 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47
176 P BLP003 Blepharospasm 45
177 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 44
178 CRN241 Corneal Dystrophy, Congenital Stromal 43
179 c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 43
180 c RTN162 Retinitis Pigmentosa 2 42
181 c CHR086 Chronic Conjunctivitis 41
182 ART110 Arteritic Anterior Ischemic Optic Neuropathy 40
183 c RTN069 Retinitis Pigmentosa 7 39
184 c ATM100 Autoimmune Optic Neuritis 39
185 c WLF009 Wolfram Syndrome 2 36
186 ISL119 Isolated Optic Neuritis 36
187 c RTN058 Retinitis Pigmentosa 3 35
188 PRR004 Preretinal Fibrosis 33
189 SPN033 Spontaneous Ocular Nystagmus 33
190 c RTN041 Retinitis Pigmentosa 11 33
191 c ACH023 Achromatopsia 4 32
192 c ACT067 Acute Conjunctivitis 31
193 c LBR005 Leber Congenital Amaurosis 10 31
194 c BCT006 Bacterial Conjunctivitis 31
195 c RTN070 Retinitis Pigmentosa 9 31
196 DGN003 Degeneration of Macula and Posterior Pole 29
197 BCH003 Boucher-Neuhauser Syndrome 29
198 PRP026 Peripheral Retinal Degeneration 28
199 3MC002 3mc Syndrome 1 28
200 c LBR015 Leber Congenital Amaurosis 5 28
201 TXC008 Toxic Optic Neuropathy 27
202 c MCL078 Macular Degeneration, Age-Related, 14 26
203 c FBR050 Fibrosis of Extraocular Muscles, Congenital, 2 25
204 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 25
205 c MCL043 Macular Degeneration, Age-Related, 2 24
206 c CND012 Cone Dystrophy 4 23
207 c NGH028 Night Blindness, Congenital Stationary, Type 1d 22
208 c ACH038 Achromatopsia 7 22
209 c CLB022 Coloboma, Ocular, Autosomal Recessive 22
210 c MCL030 Macular Degeneration, Age-Related, 10 22
211 P FVL006 Foveal Hypoplasia 1 21
212 MCL057 Macular Dystrophy with Central Cone Involvement 21
213 c MCL051 Macular Degeneration, Age-Related, 12 21
214 OPT076 Optic Perineuritis 21
215 OPT077 Optic Disc Pit 21
216 c NGH024 Night Blindness, Congenital Stationary, Type 1h 20
217 c MCL052 Macular Degeneration, Age-Related, 13 20
218 CLB018 Coloboma of Eyelid 19
219 c LBR017 Leber Congenital Amaurosis 7 19
220 P TXC009 Toxic Maculopathy 19
221 c MYP074 Myopia 23, Autosomal Recessive 19
222 c LBR006 Leber Congenital Amaurosis 11 18
223 c FRS015 Fraser Syndrome 3 18
224 P MCL058 Macular Degeneration, Early-Onset 18
225 c MYP070 Myopia 21, Autosomal Dominant 18
226 c FRS016 Fraser Syndrome 2 17
227 P FBR081 Fibrosis of Extraocular Muscles, Congenital, 3c 16
228 c MYP075 Myopia 22, Autosomal Dominant 16
229 c FBR078 Fibrosis of Extraocular Muscles, Congenital, 5 16
230 WLF014 Wolfram Syndrome, Mitochondrial Form 16
231 c MCL041 Macular Degeneration, Age-Related, 7 16
232 c MCL077 Macular Degeneration, Age-Related, 5 16
233 c MYP090 Myopia 24, Autosomal Dominant 16
234 c MCL032 Macular Degeneration, Age-Related, 11 16
235 c CRN306 Corneal Dystrophy, Posterior Polymorphous, 4 16
236 c MCL038 Macular Degeneration, Age-Related, 4 16
237 c MCL036 Macular Degeneration, Age-Related, 6 16
238 BLN017 Balint Syndrome 15
239 c MYP117 Myopia 25, Autosomal Dominant 15
240 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 15
241 c MCL044 Macular Degeneration, Age-Related, 9 15
242 c MCL065 Macular Degeneration, Age-Related, 15 15
243 NTR002 Nutritional Optic Neuropathy 15
244 APR010 Apraxia of Eyelid Opening 15
245 VSP001 Vasoproliferative Tumor of the Retina 14
246 P FRS017 Fraser-Like Syndrome 14
247 PSD005 Pseudoretinitis Pigmentosa 14
248 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 13
249 MYP135 Myopia 26, X-Linked, Female-Limited 13
250 CHL133 Cholestasis with Gallstone, Ataxia, and Visual Disturbance 12
251 SPT020 Spatial Visualization, Aptitude for 12
252 P OPT029 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 11
253 NRP050 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 11
254 OPT072 Opticocochleodentate Degeneration 11
255 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 11
256 TNT001 Tented Eyebrows 11
257 BLS004 Blessig's Cysts 10
258 PRT024 Partial Optic Atrophy 10
259 FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 10
260 OPT067 Optic Atrophy with Demyelinating Disease of Cns 10
261 OPT069 Optic Atrophy with Negative Electroretinograms 10
262 OPT073 Optic Atrophy--Spastic Paraplegia Syndrome 10
263 LTT009 Lattice Degeneration of Retina Leading to Retinal Detachment 9
264 VSL006 Visual Pathway and Hypothalamic Glioma, Childhood 9
265 MYL068 Myelinated Optic Nerve Fibers 9
266 RTN005 Retinal Lattice Degeneration 9
267 HLR003 Hole Retinal Cyst 9
268 VSL001 Visual Verbal Agnosia 9
269 CBB001 Cobblestone Retinal Degeneration 8
270 TRS032 Tristichiasis 8
271 CYS012 Cystoid Macular Retinal Degeneration 7
272 HYP046 Hypopigmentation of Eyelid 7
273 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 7
274 CNG355 Congenital Eyelid Retraction 7
275 SNL002 Senile Reticular Retinal Degeneration 7
276 XRD002 Xeroderma of Eyelid 7
277 ECZ001 Eczematous Dermatitis of Eyelid 7
278 CLB023 Coloboma of Inferior Eyelid 6
279 EYB006 Eyebrow, Whorl in 6
280 HYP044 Hypotrichosis of Eyelid 6
281 HYP045 Hypertrichosis of Eyelid 6
282 PRP004 Peripheral Scars of Retina 6
283 EYL004 Eyelid Degenerative Disease 6
284 c TXC018 Toxic Maculopathy Due to Antimalarial Drugs 6
285 CLB024 Coloboma of Superior Eyelid 6
286 ATS077 Autosomal Dominant Optic Atrophy and Peripheral Neuropathy 5
287 DSC002 Discoid Lupus Erythematosus of Eyelid 5
288 SPS224 Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal 5
289 ECC013 Eccrine Syringofibroadenomatosis with Eyelid Abnormalities 4
290 P ATX030 Ataxia-Telangiectasia 84
291 P NNN008 Noonan Syndrome 1 79
292 PFF001 Pfeiffer Syndrome 78
293 P SRC025 Sarcoidosis 1 76
294 P NRF023 Neurofibromatosis, Type Ii 75
295 MRF001 Marfan Syndrome 75
296 P MYS003 Myasthenia Gravis 74
297 BHC003 Behcet Syndrome 73
298 VNH007 Von Hippel-Lindau Syndrome 72
299 P ALG028 Alagille Syndrome 1 72
300 FBR012 Fabry Disease 72
301 P SPR120 Supranuclear Palsy, Progressive, 1 71
302 P TYS001 Tay-Sachs Disease 70
303 P LPR021 Leprosy 3 70
304 P FRG001 Fragile X Syndrome 70
305 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 70
306 P TRN020 Turner Syndrome 69
307 SMT004 Smith-Lemli-Opitz Syndrome 69
308 P PSD087 Pseudoxanthoma Elasticum 68
309 P DYS007 Dyskeratosis Congenita 68
310 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 68
311 P KRB001 Krabbe Disease 68
312 INC021 Incontinentia Pigmenti 67
313 LWC002 Lowe Oculocerebrorenal Syndrome 67
314 P MCP040 Mucopolysaccharidosis-Plus Syndrome 67
315 P KBK002 Kabuki Syndrome 1 66
316 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 65
317 P CCK001 Cockayne Syndrome 65
318 c MCP050 Mucopolysaccharidosis, Type Ii 64
319 c FML346 Familial Adenomatous Polyposis 1 64
320 P RBL001 Rubella 64
321 P GCH001 Gaucher's Disease 64
322 c LBR014 Leber Congenital Amaurosis 4 63
323 WLL001 Williams-Beuren Syndrome 63
324 P MCK013 Meckel Syndrome, Type 1 62
325 RFS006 Refsum Disease, Classic 62
326 CRB011 Cerebrotendinous Xanthomatosis 62
327 c NMN016 Niemann-Pick Disease, Type B 62
328 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 62
329 NRR002 Norrie Disease 62
330 c MCP049 Mucopolysaccharidosis, Type Vii 62
331 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
332 c GCH015 Gaucher Disease, Type I 61
333 P NMN002 Niemann-Pick Disease 61
334 P WLF004 Wolfram Syndrome 61
335 P UVT001 Uveitis 61
336 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 60
337 P OCL013 Oculodentodigital Dysplasia 60
338 c NNN010 Noonan Syndrome 3 59
339 c MNN047 Mannosidosis, Alpha B, Lysosomal 59
340 ABL002 Ablepharon-Macrostomia Syndrome 59
341 STR039 Sturge-Weber Syndrome 59
342 c PRX045 Peroxisome Biogenesis Disorder 1b 59
343 LCR014 Lacrimoauriculodentodigital Syndrome 59
344 P CRN108 Cranioectodermal Dysplasia 1 59
345 c GLC097 Glaucoma 3, Primary Congenital, a 58
346 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 58
347 P HLL001 Hallermann-Streiff Syndrome 58
348 EXF001 Exfoliation Syndrome 57
349 KLP010 Klippel-Trenaunay-Weber Syndrome 57
350 P INF016 Infantile Epileptic Encephalopathy 57
351 c WLF013 Wolfram Syndrome 1 56
352 P ICH004 Ichthyosis 56
353 STR020 Strabismus 56
354 P CNG010 Congenital Stationary Night Blindness 56
355 HRL003 Hurler Syndrome 55
356 c INT064 Intermediate Uveitis 55
357 OST024 Osteoporosis-Pseudoglioma Syndrome 55
358 c OST163 Osteopetrosis, Autosomal Recessive 3 55
359 LPR001 Lepromatous Leprosy 55
360 c CRN139 Cornelia De Lange Syndrome 1 55
361 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
362 CHN055 Chanarin-Dorfman Syndrome 55
363 MLT135 Multiple Sulfatase Deficiency 54
364 c WRD033 Waardenburg Syndrome, Type 2e 54
365 c GCH016 Gaucher Disease, Type Ii 54
366 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 54
367 KRT006 Keratoconjunctivitis 54
368 P PRM002 Primary Hyperoxaluria 53
369 DRY001 Dry Eye Syndrome 53
370 P OPN001 Open-Angle Glaucoma 53
371 P GRS003 Griscelli Syndrome 53
372 MCL006 Macular Retinal Edema 52
373 RTN003 Retinal Ischemia 52
374 GLC012 Galactosialidosis 52
375 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 52
376 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 52
377 CTY001 Cat Eye Syndrome 51
378 CRN027 Corneal Neovascularization 51
379 EXP004 Exophthalmos 51
380 c ATS393 Autosomal Recessive Cutis Laxa Type I 51
381 P END047 Endophthalmitis 51
382 CCH002 Coach Syndrome 51
383 STR072 Stromal Keratitis 51
384 ENH001 Enhanced S-Cone Syndrome 51
385 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 51
386 c CCK007 Cockayne Syndrome B 51
387 NNT017 Neonatal Adrenoleukodystrophy 50
388 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
389 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
390 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 50
391 FND002 Fundus Dystrophy 50
392 DBT006 Diabetic Macular Edema 50
393 c AXN010 Axenfeld-Rieger Syndrome, Type 3 50
394 c ATM099 Autoimmune Uveitis 50
395 c PRX059 Peroxisome Biogenesis Disorder 1a 49
396 c GCH017 Gaucher Disease, Type Iii 49
397 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
398 TBR006 Tuberculoid Leprosy 49
399 RVS001 Revesz Syndrome 49
400 P NGH001 Night Blindness 49
401 c GRS014 Griscelli Syndrome, Type 2 49
402 P TYR004 Tyrosinemia 49
403 c CNG412 Congenital Disorder of Glycosylation, Type Ii 49
404 P DNR001 Duane Retraction Syndrome 49
405 FRB001 Farber Lipogranulomatosis 49
406 NVS001 Neovascular Glaucoma 49
407 c NNN012 Noonan Syndrome 5 48
408 c BRD044 Bardet-Biedl Syndrome 17 48
409 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 48
410 c ALB019 Albinism, Oculocutaneous, Type Iv 48
411 ACR058 Acrofacial Dysostosis 1, Nager Type 48
412 c WRD020 Waardenburg Syndrome, Type 4a 48
413 P RTN014 Retinal Artery Occlusion 48
414 MCR165 Microphthalmia with Limb Anomalies 48
415 RTN023 Retinitis 48
416 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 47
417 c OPT051 Opitz Gbbb Syndrome, Type I 47
418 c USH021 Usher Syndrome, Type Iid 47
419 P CRN028 Corneal Ulcer 47
420 c WRD019 Waardenburg Syndrome, Type 4b 46
421 P NLX004 Neu-Laxova Syndrome 1 46
422 c WRD031 Waardenburg Syndrome, Type 3 46
423 c LKD015 Leukodystrophy, Hypomyelinating, 3 46
424 c USH035 Usher Syndrome Type 2 46
425 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 46
426 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 46
427 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 46
428 ATP013 Atopic Keratoconjunctivitis 46
429 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 46
430 c LKD019 Leukodystrophy, Hypomyelinating, 6 46
431 SYM002 Sympathetic Ophthalmia 45
432 MCL003 Macular Holes 45
433 BLL004 Bullous Keratopathy 45
434 ACT011 Acute Contagious Conjunctivitis 45
435 c 3MT015 3-Methylglutaconic Aciduria, Type I 45
436 c OPT050 Opitz Gbbb Syndrome, Type Ii 45
437 DBT090 Diabetes and Deafness, Maternally Inherited 45
438 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
439 P MNN018 Mannosidosis 45
440 c DYS119 Dystonia 9 45
441 c LKD010 Leukodystrophy, Hypomyelinating, 2 45
442 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45
443 CRN024 Corneal Disease 44
444 FNG016 Fungal Keratitis 44
445 CNJ012 Conjunctival Disease 44
446 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
447 c BRD033 Bardet-Biedl Syndrome 13 44
448 KRT008 Keratopathy 44
449 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
450 c MCK012 Meckel Syndrome, Type 6 44
451 c NNN009 Noonan Syndrome 2 44
452 NNC002 Nance-Horan Syndrome 43
453 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 43
454 c DYS146 Dystonia 24 43
455 ARC023 Arcus Corneae 43
456 c SHR030 Short Qt Syndrome 43
457 c BRD048 Bardet-Biedl Syndrome 18 43
458 P CRN026 Corneal Edema 43
459 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 43
460 c RTN143 Retinitis Pigmentosa 47 43
461 c TYR011 Tyrosinemia, Type Iii 43
462 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 43
463 PTH003 Pathologic Nystagmus 43
464 c MYS078 Myasthenic Syndrome, Congenital, 14 43
465 c ALB015 Albinism, Oculocutaneous, Type V 42
466 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 42
467 VRN001 Vernal Conjunctivitis 42
468 BRN026 Branch Retinal Artery Occlusion 42
469 MYP139 Myopathy, Proximal, and Ophthalmoplegia 42
470 CRN285 Corneal Dystrophy, Fleck 42
471 CHR382 Chromosome 18q Deletion Syndrome 42
472 SPN331 Spondyloocular Syndrome 42
473 c RTN160 Retinitis Pigmentosa 60 42
474 c BRD035 Bardet-Biedl Syndrome 15 42
475 c MCR263 Microphthalmia, Syndromic 1 42
476 c 3MT014 3-Methylglutaconic Aciduria, Type V 42
477 c RTN050 Retinitis Pigmentosa 20 41
478 VTR005 Vitreous Disease 41
479 c CNG201 Congenital Disorder of Glycosylation, Type Iij 41
480 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 41
481 c CTR130 Cataract 9, Multiple Types 41
482 BLP005 Blepharitis 41
483 c HNT004 Huntington Disease-Like 2 41
484 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 41
485 c CNT028 Central Retinal Artery Occlusion 41
486 c RTN177 Retinitis Pigmentosa 73 41
487 LCR008 Lacrimal Apparatus Disease 41
488 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
489 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 41
490 MRN002 Mooren's Ulcer 41
491 CRN025 Corneal Dystrophy 41
492 EPC005 Epicanthus 41
493 c PNT049 Pontocerebellar Hypoplasia, Type 2d 41
494 c GLL038 Galloway-Mowat Syndrome 1 40
495 c ALB016 Albinism, Oculocutaneous, Type Vii 40
496 P CNG024 Congenital Nystagmus 40
497 c RTN172 Retinitis Pigmentosa 1 40
498 c RTN048 Retinitis Pigmentosa 19 40
499 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
500 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
501 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
502 c CNG204 Congenital Disorder of Glycosylation, Type Iih 40
503 c USH041 Usher Syndrome, Type if 40
504 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 40
505 END072 Endotheliitis 40
506 SNL007 Senile Cataract 40
507 EXT022 Exotropia 40
508 c KNB006 Knobloch Syndrome 1 40
509 CHR386 Chromosome 6pter-P24 Deletion Syndrome 40
510 IRD001 Iridocyclitis 40
511 BCK003 Background Diabetic Retinopathy 40
512 P GNG010 Gangliosidosis Gm2 40
513 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 40
514 RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40
515 c NNN011 Noonan Syndrome 4 40
516 BLT001 Bilateral Retinoblastoma 39
517 c JBR015 Joubert Syndrome 6 39
518 c CNG383 Congenital Disorder of Glycosylation, Type Iik 39
519 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 39
520 c CNG203 Congenital Disorder of Glycosylation, Type Iii 39
521 SPP007 Suppression Amblyopia 39
522 c RTN136 Retinitis Pigmentosa 44 39
523 CNJ007 Conjunctivochalasis 39
524 c LKD009 Leukodystrophy, Hypomyelinating, 5 39
525 RCR001 Recurrent Corneal Erosion 39
526 c NNN013 Noonan Syndrome 6 39
527 c LKD008 Leukodystrophy, Hypomyelinating, 4 39
528 c JBR024 Joubert Syndrome 14 39
529 HYP084 Hypopyon 39
530 P JVN008 Juvenile Glaucoma 39
531 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 39
532 c BRD032 Bardet-Biedl Syndrome 14 39
533 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
534 c CTR118 Cataract 14, Multiple Types 39
535 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 39
536 PRM024 Primary Angle-Closure Glaucoma 39
537 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 39
538 c CNR023 Cone-Rod Dystrophy 8 38
539 HRP025 Herpes Simplex Virus Keratitis 38
540 c GLC083 Glaucoma 3, Primary Infantile, B 38
541 c MNS014 Monosomy 22 38
542 HRL004 Hurler-Scheie Syndrome 38
543 c ANT023 Anterior Scleritis 38
544 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
545 c RTN142 Retinitis Pigmentosa 38 38
546 c RTN090 Retinitis Pigmentosa 55 38
547 LWT001 Low Tension Glaucoma 38
548 INT042 Internuclear Ophthalmoplegia 38
549 c CTR115 Cataract 16, Multiple Types 38
550 c MCL016 Mucolipidosis Iii Gamma 38
551 EPT025 Epithelial Basement Membrane Dystrophy 38
552 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
553 c CNR016 Cone-Rod Dystrophy 7 38
554 PPL019 Papillary Conjunctivitis 38
555 c OST126 Osteopetrosis, Autosomal Recessive 1 38
556 c WRB005 Warburg Micro Syndrome 4 38
557 c RTN043 Retinitis Pigmentosa 13 38
558 ORB006 Orbital Cellulitis 38
559 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 38
560 c PST008 Posterior Scleritis 38
561 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 38
562 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 38
563 VTR003 Vitreous Detachment 38
564 c MCP051 Mucopolysaccharidosis, Type Ix 38
565 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 38
566 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 37
567 c MCL066 Macular Dystrophy, Vitelliform, 2 37
568 c HYP559 Hypotrichosis 8 37
569 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
570 c CNG190 Congenital Disorder of Glycosylation, Type Iib 37
571 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
572 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 37
573 c HYP581 Hypotrichosis 6 37
574 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 37
575 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 37
576 c USH042 Usher Syndrome, Type Ig 37
577 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 37
578 MND025 Mandibulofacial Dysostosis with Alopecia 37
579 c CTR170 Cataract 30, Multiple Types 37
580 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 37
581 c WRD024 Waardenburg Syndrome, Type 4c 37
582 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
583 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
584 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 37
585 c ACT037 Acute Dacryocystitis 37
586 c MCK014 Meckel Syndrome, Type 5 37
587 c CTR098 Cataract 1, Multiple Types 37
588 PNG001 Pinguecula 37
589 EPT021 Epithelial Recurrent Erosion Dystrophy 37
590 CRT012 Cortical Blindness 36
591 PHT002 Photokeratitis 36
592 c CNG188 Congenital Disorder of Glycosylation, Type if 36
593 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
594 c NNN021 Noonan Syndrome 8 36
595 CLR133 Colorblindness, Partial, Protan Series 36
596 c RTN066 Retinitis Pigmentosa 4 36
597 RTN013 Retinal Hemangioblastoma 36
598 c ATS076 Autosomal Recessive Stickler Syndrome 36
599 ORB008 Orbital Plasma Cell Granuloma 36
600 BLP006 Blepharoconjunctivitis 36
601 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 36
602 P SPS008 Spastic Ataxia 36
603 PRS025 Presbyopia 36
604 RBS002 Rubeosis Iridis 36
605 HYP008 Hypertensive Retinopathy 36
606 CRN274 Corneal Dystrophy, Posterior Amorphous 36
607 GPS001 Gapo Syndrome 36
608 PST063 Postsynaptic Congenital Myasthenic Syndromes 36
609 P DCR003 Dacryoadenitis 36
610 ANG004 Angioid Streaks 36
611 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
612 INT082 Intraocular Retinoblastoma 36
613 c RTN186 Retinitis Pigmentosa 75 36
614 c CNR017 Cone-Rod Dystrophy 9 36
615 c BRD045 Bardet-Biedl Syndrome 19 36
616 c NNN024 Noonan Syndrome 9 36
617 SHP001 Shipyard Eye 36
618 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 35
619 AST003 Asthenopia 35
620 c LBR007 Leber Congenital Amaurosis 12 35
621 PRM056 Primrose Syndrome 35
622 c CTR122 Cataract 5, Multiple Types 35
623 c CNG379 Congenital Disorder of Glycosylation, Type It 35
624 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 35
625 BRB006 Barber-Say Syndrome 35
626 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 35
627 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 35
628 EXC003 Excessive Tearing 35
629 c PRM032 Primary Congenital Glaucoma 35
630 LGH012 Leigh Syndrome with Leukodystrophy 35
631 c RTN171 Retinitis Pigmentosa 59 35
632 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 35
633 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 35
634 c MCK033 Meckel Syndrome, Type 4 35
635 c JVN038 Juvenile Myasthenia Gravis 35
636 PRK003 Parkes Weber Syndrome 35
637 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 35
638 c MTC060 Mitochondrial Dna Depletion Syndrome 9 35
639 INT065 Interstitial Keratitis 35
640 c RTN051 Retinitis Pigmentosa 22 35
641 DBT007 Diabetic Cataract 35
642 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
643 c BRD047 Bardet-Biedl Syndrome 16 35
644 IRT001 Iritis 34
645 RTN002 Retinal Perforation 34
646 c LPR022 Leprosy 2 34
647 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 34
648 CRN273 Corneal Dystrophy, Subepithelial Mucinous 34
649 ISL062 Isolated Plagiocephaly 34
650 c CTR174 Cataract 40 34
651 P 3MT007 3-Methylglutaconic Aciduria 34
652 IND004 Indeterminate Leprosy 34
653 PHR002 Pharyngoconjunctival Fever 34
654 FLM001 Filamentary Keratitis 34
655 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 34
656 c RTN055 Retinitis Pigmentosa 26 34
657 DSS006 Disuse Amblyopia 34
658 c LBR011 Leber Congenital Amaurosis 16 34
659 c RTN165 Retinitis Pigmentosa 68 34
660 XRP001 Xerophthalmia 34
661 OCL010 Ocular Hypotension 34
662 c CTR103 Cataract 4, Multiple Types 34
663 c RTN047 Retinitis Pigmentosa 18 34
664 c RTN210 Retinitis Pigmentosa 50 34
665 c AXN012 Axenfeld-Rieger Syndrome, Type 2 34
666 c RTN133 Retinitis Pigmentosa 43 34
667 c RTN149 Retinitis Pigmentosa 42 34
668 c CTR141 Cataract 21, Multiple Types 34
669 ORB013 Orbital Disease 34
670 c INF019 Infectious Anterior Uveitis 34
671 IMM002 Immature Cataract 34
672 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
673 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
674 c WLL036 Weill-Marchesani Syndrome 1 33
675 UNL002 Unilateral Retinoblastoma 33
676 ENT005 Entropion 33
677 LCR001 Lacrimal Duct Obstruction 33
678 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 33
679 c MCK034 Meckel Syndrome, Type 8 33
680 HYP047 Hypertropia 33
681 c RTN062 Retinitis Pigmentosa 33 33
682 P DCR004 Dacryocystitis 33
683 c CNG414 Congenital Disorder of Glycosylation, Type Iil 33
684 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 33
685 HRD016 Hereditary Retinal Dystrophy 33
686 OLV004 Oliver-Mcfarlane Syndrome 33
687 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 33
688 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
689 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 33
690 c PRX055 Peroxisome Biogenesis Disorder 11a 33
691 SVR002 Severe Nonproliferative Diabetic Retinopathy 33
692 ANS004 Anisometropia 33
693 c CNG205 Congenital Disorder of Glycosylation, Type Ij 33
694 c CTR125 Cataract 7 33
695 c JBR041 Joubert Syndrome 3 33
696 c JBR025 Joubert Syndrome 17 33
697 c RTN059 Retinitis Pigmentosa 30 33
698 c RTN056 Retinitis Pigmentosa 28 32
699 LKC002 Leukocoria 32
700 BLP001 Blepharochalasis 32
701 FRS019 Farsightedness 32
702 OCL004 Ocular Hyperemia 32
703 c RTN134 Retinitis Pigmentosa 40 32
704 CHR079 Choroid Disease 32
705 c CNR013 Cone-Rod Dystrophy 12 32
706 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 32
707 c HYP515 Hypotrichosis 3 32
708 c CND011 Cone Dystrophy 3 32
709 LGP001 Lagophthalmos 32
710 c CTR145 Cataract 44 32
711 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
712 c NGH007 Night Blindness, Congenital Stationary, Type 1b 32
713 c RTN129 Retinitis Pigmentosa 49 32
714 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 32
715 BSL037 Basal Laminar Drusen 31
716 c CNG199 Congenital Disorder of Glycosylation, Type Im 31
717 c RTN131 Retinitis Pigmentosa 27 31
718 c RTN046 Retinitis Pigmentosa 17 31
719 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
720 c RTN068 Retinitis Pigmentosa 6 31
721 P HYP700 Hypomyelinating Leukodystrophy 31
722 c WLL037 Weill-Marchesani Syndrome 2 31
723 c NNN025 Noonan Syndrome 10 31
724 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 31
725 RDG001 Red-Green Color Blindness 31
726 CRN288 Corneal Dystrophy, Band-Shaped 31
727 c RTN116 Retinitis Pigmentosa 56 31
728 STR019 Steroid-Induced Glaucoma 31
729 P BST001 Bestrophinopathy 31
730 SPS002 Spastic Entropion 31
731 c GLC078 Glaucoma 1, Open Angle, F 31
732 SVN002 Sveinsson Chorioretinal Atrophy 31
733 CNG005 Congenital Aphakia 31
734 c CTS031 Cutis Laxa, Autosomal Dominant 2 31
735 c BST008 Bestrophinopathy, Autosomal Recessive 31
736 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 31
737 c CNG194 Congenital Disorder of Glycosylation, Type Ig 31
738 c MTC059 Mitochondrial Dna Depletion Syndrome 5 31
739 HYP048 Hypotropia 31
740 c ACQ027 Acquired Cutis Laxa 31
741 c ATS314 Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome 31
742 c CTR158 Cataract 37 31
743 CNJ017 Conjunctival Nevus 31
744 c NGH025 Night Blindness, Congenital Stationary, Type 2a 31
745 c CRN109 Cranioectodermal Dysplasia 2 31
746 MGL003 Megalocornea 31
747 DGN002 Degenerative Myopia 31
748 ENP001 Enophthalmos 30
749 c RTN114 Retinitis Pigmentosa 58 30
750 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 30
751 c LBR013 Leber Congenital Amaurosis 3 30
752 PNC012 Punctate Epithelial Keratoconjunctivitis 30
753 c USH031 Usher Syndrome, Type Ij 30
754 P ACT028 Acute Closed-Angle Glaucoma 30
755 CHR077 Chorioretinal Scar 30
756 c NNS043 Nonsyndromic Retinitis Pigmentosa 30
757 ACT038 Acute Retrobulbar Neuritis 30
758 P SPS012 Spastic Paraplegia 3a 30
759 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
760 c RTN054 Retinitis Pigmentosa 25 30
761 ORB007 Orbital Cyst 30
762 LNS003 Lens Disease 30
763 c ATS168 Autosomal Dominant Congenital Stationary Night Blindness 30
764 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 30
765 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 30
766 c RTN042 Retinitis Pigmentosa 12 30
767 SNL004 Senile Ectropion 30
768 c RTN152 Retinitis Pigmentosa 66 30
769 VTR002 Vitreous Syneresis 30
770 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
771 c MTC088 Mitochondrial Dna Depletion Syndrome 13 30
772 c STS007 Sotos Syndrome 2 30
773 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 30
774 ACR118 Aicar Transformylase/imp Cyclohydrolase Deficiency 30
775 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 30
776 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
777 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 30
778 BRD005 Borderline Leprosy 30
779 PRL014 Paralytic Squint 30
780 c PRX056 Peroxisome Biogenesis Disorder 11b 29
781 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 29
782 LNS001 Lens Subluxation 29
783 CHR053 Chronic Follicular Conjunctivitis 29
784 c HRD186 Hereditary Spastic Paraplegia 51 29
785 c PRX063 Peroxisome Biogenesis Disorder 2a 29
786 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
787 c RTN044 Retinitis Pigmentosa 14 29
788 SCL013 Scleral Disease 29
789 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 29
790 CYC001 Cycloplegia 29
791 c ERL012 Early-Onset Glaucoma 29
792 c CHR054 Chronic Closed-Angle Glaucoma 29
793 c USH030 Usher Syndrome, Type Ik 29
794 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
795 c MTC074 Metachromatic Leukodystrophy, Adult Form 29
796 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 29
797 P CRN249 Cornea Plana 29
798 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 29
799 c RBN008 Rubinstein-Taybi Syndrome 2 29
800 c RTN150 Retinitis Pigmentosa 10 29
801 c 3MT021 3-Methylglutaconic Aciduria, Type Viii 29
802 c RTN057 Retinitis Pigmentosa 29 29
803 STR046 Stargardt Macular Degeneration 29
804 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 29
805 VTR001 Vitreoretinal Dystrophy 29
806 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 29
807 c CTR175 Cataract 24 29
808 c JBR014 Joubert Syndrome 9 29
809 c PRX060 Peroxisome Biogenesis Disorder 5a 29
810 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 29
811 c NNN020 Noonan Syndrome 7 29
812 ACT022 Acute Retinal Necrosis Syndrome 29
813 c ACT047 Acute Endophthalmitis 29
814 c RTN053 Retinitis Pigmentosa 24 29
815 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 28
816 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 28
817 c CNG498 Congenital Disorder of Glycosylation, Type Iin 28
818 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 28
819 P SCL047 Sclerocornea 28
820 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
821 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 28
822 c RTN106 Retinitis Pigmentosa 51 28
823 c PRX053 Peroxisome Biogenesis Disorder 14b 28
824 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 28
825 c CTR121 Cataract 25 28
826 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
827 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28
828 LRY022 Laryngoonychocutaneous Syndrome 28
829 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 28
830 P DSB002 Desbuquois Dysplasia 28
831 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
832 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
833 c JBR012 Joubert Syndrome 5 28
834 BRN041 Bornholm Eye Disease 28
835 ACC003 Accommodative Esotropia 28
836 c CHR093 Chronic Orbital Inflammation 28
837 SLF015 Self-Improving Collodion Baby 28
838 OLG014 Oligocone Trichromacy 28
839 c PRX054 Peroxisome Biogenesis Disorder 12a 27
840 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 27
841 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
842 c MYS067 Myasthenic Syndrome, Congenital, 22 27
843 ANG062 Angioosteohypertrophic Syndrome 27
844 c JBR016 Joubert Syndrome 10 27
845 c LBR009 Leber Congenital Amaurosis 14 27
846 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
847 CRN009 Corneal Ectasia 27
848 c PNT039 Pontocerebellar Hypoplasia, Type 7 27
849 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
850 RTN019 Retinal Telangiectasia 27
851 c RTN052 Retinitis Pigmentosa 23 27
852 TTR023 Tetraamelia-Multiple Malformations Syndrome 27
853 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
854 c CTR124 Cataract 10, Multiple Types 27
855 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 27
856 c RTN146 Retinitis Pigmentosa 62 27
857 c CHR060 Chronic Dacryocystitis 27
858 IRR001 Irregular Astigmatism 27
859 CLR132 Colorblindness, Partial, Deutan Series 27
860 c PRX050 Peroxisome Biogenesis Disorder 9b 27
861 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 27
862 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
863 ISL011 Isolated Aniridia 27
864 CRN022 Corneal Degeneration 27
865 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 27
866 CRN004 Corneal Abscess 27
867 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 27
868 SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 27
869 c INF122 Infantile Krabbe Disease 27
870 c MCR352 Microphthalmia, Isolated, with Coloboma 6 27
871 c LKD020 Leukodystrophy, Hypomyelinating, 10 27
872 c CNG193 Congenital Disorder of Glycosylation, Type Ip 27
873 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 27
874 VST003 Vestibular Nystagmus 27
875 PNP001 Panophthalmitis 27
876 RGL001 Regular Astigmatism 26
877 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
878 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 26
879 c OST120 Osteopetrosis, Autosomal Recessive 5 26
880 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
881 c BRD050 Bardet-Biedl Syndrome 21 26
882 c ALB017 Albinism, Oculocutaneous, Type Vi 26
883 CNJ001 Conjugate Gaze Palsy 26
884 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
885 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 26
886 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 26
887 CLS047 Classic Progressive Supranuclear Palsy Syndrome 26
888 c FRN033 Frontonasal Dysplasia 2 26
889 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
890 c RTN176 Retinitis Pigmentosa 71 26
891 CCT001 Cicatricial Ectropion 26
892 BTT011 Butterfly-Shaped Pigment Dystrophy 26
893 ISL061 Isolated Brachycephaly 26
894 EXP002 Exposure Keratitis 26
895 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
896 c CTR166 Cataract 33, Multiple Types 26
897 c JBR031 Joubert Syndrome 21 26
898 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
899 c RTN169 Retinitis Pigmentosa 70 26
900 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
901 P NNT006 Neonatal Myasthenia Gravis 26
902 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 26
903 SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 26
904 c HYP525 Hypotrichosis 2 26
905 c MCK028 Meckel Syndrome 13 26
906 TTR019 Tetrasomy 5p 26
907 ISL089 Isolated Scaphocephaly 26
908 c ANT085 Anterior Segment Dysgenesis 5 25
909 c MYS076 Myasthenic Syndrome, Congenital, 8 25
910 c MYP127 Myopia 2, Autosomal Dominant 25
911 c RTN190 Retinitis Pigmentosa 76 25
912 c SPN418 Spinocerebellar Ataxia 44 25
913 c JBR013 Joubert Syndrome 8 25
914 c KRT029 Keratoconus 1 25
915 c PRX043 Peroxisome Biogenesis Disorder 6b 25
916 IRS003 Iris Disease 25
917 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
918 c DSB005 Desbuquois Dysplasia 2 25
919 CRN128 Corneal Dystrophy, Endothelial, X-Linked 25
920 PGM007 Pigmented Paravenous Chorioretinal Atrophy 25
921 STR086 Stromal Dystrophy 25
922 c RTN060 Retinitis Pigmentosa 31 25
923 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
924 c WLL040 Weill-Marchesani Syndrome 4 25
925 TTR027 Tetrasomy 15q26 25
926 c KBK003 Kabuki Syndrome 2 25
927 c CWD008 Cowden Syndrome 6 25
928 c CRN215 Cornelia De Lange Syndrome 4 25
929 CRN010 Corneal Granular Dystrophy 25
930 INT012 Interval Angle-Closure Glaucoma 25
931 P RTN102 Retinitis Pigmentosa, Y-Linked 25
932 c PRX048 Peroxisome Biogenesis Disorder 10a 25
933 c ANT083 Anterior Segment Dysgenesis 7 25
934 TRM002 Traumatic Glaucoma 25
935 c PRX046 Peroxisome Biogenesis Disorder 7a 25
936 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 25
937 c JBR030 Joubert Syndrome 22 25
938 c PRX091 Peroxisome Biogenesis Disorder 8a 25
939 c SPN259 Spinocerebellar Ataxia 32 25
940 c STR040 Stargardt Disease 3 25
941 c LKD016 Leukodystrophy, Hypomyelinating, 9 25
942 MRG001 Morgagni Cataract 25
943 c LKD030 Leukodystrophy, Hypomyelinating, 17 25
944 RTN006 Retinal Drusen 25
945 c PRX057 Peroxisome Biogenesis Disorder 4a 25
946 c SPN421 Spinocerebellar Ataxia 47 25
947 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 25
948 c FRN032 Frontonasal Dysplasia 3 25
949 c HRM020 Hermansky-Pudlak Syndrome 10 25
950 c RTN178 Retinitis Pigmentosa 72 25
951 c RTN159 Retinitis Pigmentosa 45 25
952 c MCK035 Meckel Syndrome, Type 10 25
953 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
954 P ACT077 Acute Orbital Inflammation 24
955 ISL087 Isolated Oxycephaly 24
956 c PRX065 Peroxisome Biogenesis Disorder 3a 24
957 c SPS142 Spastic Ataxia 2, Autosomal Recessive 24
958 OPH001 Ophthalmomyiasis 24
959 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 24
960 c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 24
961 PRF002 Perforated Corneal Ulcer 24
962 c CWD004 Cowden Syndrome 5 24
963 c LKD023 Leukodystrophy, Hypomyelinating, 12 24
964 PHK008 Phakomatosis Cesioflammea 24
965 c PRX051 Peroxisome Biogenesis Disorder 6a 24
966 MNC001 Monocular Esotropia 24
967 MCH006 Mechanical Strabismus 24
968 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 24
969 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 24
970 c GLL040 Galloway-Mowat Syndrome 3 24
971 c SPN323 Spinocerebellar Ataxia 41 24
972 PSD004 Pseudomembranous Conjunctivitis 24
973 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 24
974 c DYS145 Dystonia 23 24
975 c FRD006 Friedreich Ataxia 2 24
976 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 24
977 c NGH027 Night Blindness, Congenital Stationary, Type 1c 24
978 c CRN209 Cornelia De Lange Syndrome 5 24
979 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 24
980 c RTN064 Retinitis Pigmentosa 35 24
981 DCR002 Dacryocystocele 24
982 c JBR037 Joubert Syndrome 26 24
983 c JBR018 Joubert Syndrome 4 24
984 c LKD021 Leukodystrophy, Hypomyelinating, 11 24
985 HRD019 Hereditary Choroidal Atrophy 24
986 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 24
987 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 24
988 c BRD051 Bardet-Biedl Syndrome 20 24
989 c WRB004 Warburg Micro Syndrome 3 24
990 c MCR228 Microphthalmia, Syndromic 13 24
991 c PRX052 Peroxisome Biogenesis Disorder 13a 24
992 c PRX058 Peroxisome Biogenesis Disorder 4b 24
993 c RTN147 Retinitis Pigmentosa 48 24
994 P PST016 Posterior Polar Cataract 24
995 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 24
996 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 24
997 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 24
998 c CNR032 Cone-Rod Dystrophy 21 24
999 c MYS056 Myasthenic Syndrome, Congenital, 17 24
1000 c RTN067 Retinitis Pigmentosa 41 24
1001 c SPS198 Spastic Paraplegia 16, X-Linked 24
1002 RTN174 Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 24
1003 c PRX062 Peroxisome Biogenesis Disorder 8b 24
1004 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 23
1005 ISL019 Isolated Duane Retraction Syndrome 23
1006 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 23
1007 c MYS064 Myasthenic Syndrome, Congenital, 16 23
1008 SCL014 Scleral Staphyloma 23
1009 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 23
1010 c SHR031 Short Qt Syndrome 1 23
1011 PRT032 Partial Central Choroid Dystrophy 23
1012 PRT101 Poretti-Boltshauser Syndrome 23
1013 ANS002 Aniseikonia 23
1014 DRM043 Dermochondrocorneal Dystrophy 23
1015 MTR001 Mature Cataract 23
1016 PRL018 Purulent Endophthalmitis 23
1017 c SHR032 Short Qt Syndrome 2 23
1018 END034 Endocrine Exophthalmos 23
1019 ALT003 Alternating Exotropia 23
1020 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 23
1021 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
1022 c SPS136 Spastic Ataxia 3, Autosomal Recessive 23
1023 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 23
1024 c WLL038 Weill-Marchesani Syndrome 3 23
1025 c RTN085 Retinitis Pigmentosa 54 23
1026 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 23
1027 c CTR180 Cataract 22, Multiple Types 23
1028 c CRN135 Cornelia De Lange Syndrome 3 23
1029 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 23
1030 HYD007 Hydrophthalmos 23
1031 3MC004 3mc Syndrome 3 23
1032 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 23
1033 c MYP138 Myopia 3, Autosomal Dominant 23
1034 c LBR010 Leber Congenital Amaurosis 15 23
1035 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 23
1036 c NGH030 Night Blindness, Congenital Stationary, Type 1f 23
1037 c WRD022 Waardenburg Syndrome, Type 2d 23
1038 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 23
1039 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 23
1040 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 23
1041 c CTR131 Cataract 17, Multiple Types 23
1042 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
1043 c RTN144 Retinitis Pigmentosa 61 23
1044 c DYS138 Dystonia 21 23
1045 FLY003 Flynn-Aird Syndrome 23
1046 STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 23
1047 c LKD028 Leukodystrophy, Hypomyelinating, 15 23
1048 c RTN213 Retinitis Pigmentosa 80 23
1049 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 23
1050 c PRX047 Peroxisome Biogenesis Disorder 5b 23
1051 c RTN141 Retinitis Pigmentosa 39 23
1052 c JBR021 Joubert Syndrome 18 23
1053 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 23
1054 c DYS151 Dystonia 25 23
1055 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 23
1056 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 23
1057 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 23
1058 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 23
1059 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 22
1060 c LPR023 Leprosy 1 22
1061 c DYS172 Dystonia 27 22
1062 c TRC073 Treacher Collins Syndrome 2 22
1063 PHC001 Phacolytic Glaucoma 22
1064 ORB010 Orbital Granuloma 22
1065 c SPN419 Spinocerebellar Ataxia 45 22
1066 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 22
1067 KRT074 Keratoendotheliitis Fugax Hereditaria 22
1068 ERY043 Euryblepharon 22
1069 P XLN065 X-Linked Infantile Nystagmus 22
1070 P ERL043 Early-Onset Nuclear Cataract 22
1071 CMB018 Combined Oxidative Phosphorylation Deficiency 7 22
1072 P MNS011 Monosomy 9q22.3 22
1073 c CNR021 Cone-Rod Dystrophy 10 22
1074 c PNT042 Pontocerebellar Hypoplasia, Type 2f 22
1075 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 22
1076 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
1077 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
1078 c NLX003 Neu-Laxova Syndrome 2 22
1079 SHK001 Shaken Baby Syndrome 22
1080 c CNR026 Cone-Rod Dystrophy 18 22
1081 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 22
1082 c MNS008 Monosomy 21 22
1083 c JBR040 Joubert Syndrome 30 22
1084 c GLL041 Galloway-Mowat Syndrome 4 22
1085 c RTN148 Retinitis Pigmentosa 63 22
1086 c HRN024 Horner Syndrome, Congenital 22
1087 c MCR217 Microphthalmia, Syndromic 11 22
1088 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 22
1089 c CTR165 Cataract 19, Multiple Types 22
1090 c ADL084 Adult-Onset Myasthenia Gravis 22
1091 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 22
1092 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
1093 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 22
1094 c CTR184 Cataract 39, Multiple Types 22
1095 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 22
1096 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 22
1097 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
1098 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 22
1099 c CNR027 Cone-Rod Dystrophy 17 22
1100 c RTN157 Retinitis Pigmentosa 37 22
1101 c JBR022 Joubert Syndrome 20 22
1102 c PRX066 Peroxisome Biogenesis Disorder 3b 22
1103 c LBR029 Leber Congenital Amaurosis 17 22
1104 c CNR025 Cone-Rod Dystrophy 15 22
1105 c RTN117 Retinitis Pigmentosa 57 22
1106 c 3MT023 3-Methylglutaconic Aciduria, Type Ix 22
1107 c CNR012 Cone-Rod Dystrophy 11 22
1108 RTN212 Retinal Dystrophy with or Without Macular Staphyloma 22
1109 c LKD027 Leukodystrophy, Hypomyelinating, 14 22
1110 c GLL042 Galloway-Mowat Syndrome 5 22
1111 c LKD029 Leukodystrophy, Hypomyelinating, 16 22
1112 c CNR024 Cone-Rod Dystrophy 13 22
1113 c CRN147 Corneal Dystrophy, Fuchs Endothelial, 6 22
1114 c JBR043 Joubert Syndrome 32 22
1115 c MCK036 Meckel Syndrome, Type 9 22
1116 c CTR116 Cataract 15, Multiple Types 22
1117 c RTN195 Retinitis Pigmentosa 79 22
1118 PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 22
1119 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 22
1120 c CLC055 Cole-Carpenter Syndrome 2 22
1121 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 21
1122 CRT069 Cortical Malformations, Occipital 21
1123 P IDP049 Idiopathic Anterior Uveitis 21
1124 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 21
1125 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 21
1126 c CTR182 Cataract 23, Multiple Types 21
1127 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
1128 MSC089 Mosaic Monosomy X 21
1129 c SPS191 Spastic Ataxia 7, Autosomal Dominant 21
1130 c RTN065 Retinitis Pigmentosa 36 21
1131 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
1132 c PRX089 Peroxisome Biogenesis Disorder 10b 21
1133 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
1134 CNJ010 Conjunctival Degeneration 21
1135 c CTR105 Cataract 12, Multiple Types 21
1136 HRR005 Harrod Syndrome 21
1137 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
1138 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 21
1139 c SHR033 Short Qt Syndrome 3 21
1140 c SPS062 Spastic Paraplegia 34, X-Linked 21
1141 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21
1142 c EXD010 Exudative Vitreoretinopathy 6 21
1143 c STC012 Stickler Syndrome, Type Iv 21
1144 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 21
1145 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 21
1146 c MYP140 Myopia 17, Autosomal Dominant 21
1147 c MYS077 Myasthenic Syndrome, Congenital, 15 21
1148 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 21
1149 SPS087 Spasmus Nutans 21
1150 PHC002 Phacogenic Glaucoma 21
1151 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 21
1152 SWN003 Sweeney-Cox Syndrome 21
1153 SCL011 Sclerosing Keratitis 21
1154 c JBR039 Joubert Syndrome 28 21
1155 c CTR163 Cataract 46, Juvenile-Onset 21
1156 c JBR028 Joubert Syndrome 13 21
1157 c JBR045 Joubert Syndrome 33 21
1158 P NNP011 Nanophthalmos 2 21
1159 c CTR159 Cataract 35 21
1160 c SNR011 Senior-Loken Syndrome 3 21
1161 c CWD009 Cowden Syndrome 7 21
1162 c JBR044 Joubert Syndrome 31 21
1163 c SNR015 Senior-Loken Syndrome 8 21
1164 GRM003 German Syndrome 21
1165 ISL084 Isolated Trigonocephaly 21
1166 c RTN192 Retinitis Pigmentosa 77 21
1167 P PRX064 Peroxisome Biogenesis Disorder 2b 21
1168 c ANR046 Aniridia 3 21
1169 c MCK020 Meckel Syndrome, Type 11 21
1170 c BLP049 Blepharocheilodontic Syndrome 2 20
1171 c HYP564 Hypocalcemia, Autosomal Dominant 2 20
1172 c STC011 Stickler Syndrome, Type V 20
1173 c MYP146 Myopia 15, Autosomal Dominant 20
1174 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 20
1175 c JBR038 Joubert Syndrome 27 20
1176 c EXD007 Exudative Vitreoretinopathy 3 20
1177 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 20
1178 NTH002 Nathalie Syndrome 20
1179 c CTR183 Cataract 38 20
1180 EYD001 Eye Degenerative Disease 20
1181 c SNR004 Senior-Loken Syndrome 4 20
1182 c NGH022 Night Blindness, Congenital Stationary, Type 1g 20
1183 c CNR030 Cone-Rod Dystrophy 20 20
1184 CNR033 Cone-Rod Synaptic Disorder, Congenital Nonprogressive 20
1185 c CTR097 Cataract 34, Multiple Types 20
1186 SPR019 Superficial Keratitis 20
1187 RTN216 Retinitis Pigmentosa 82 with or Without Situs Inversus 20
1188 c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 20
1189 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 20
1190 EXT029 Extraocular Retinoblastoma 20
1191 c PRX068 Peroxisome Biogenesis Disorder 7b 20
1192 c SNR007 Senior-Loken Syndrome 7 20
1193 c RTN196 Retinitis Pigmentosa 78 20
1194 c MCR350 Microphthalmia, Isolated, with Coloboma 5 20
1195 MCR220 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 20
1196 c GLC054 Glaucoma 3, Primary Congenital, D 20
1197 c CTR111 Cataract 36 20
1198 OCL057 Oculotrichodysplasia 20
1199 c EXD012 Exudative Vitreoretinopathy 7 20
1200 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 20
1201 c CTR136 Cataract 41 20
1202 ORB019 Orbital Margin, Hypoplasia of 20
1203 MTR058 Maternally-Inherited Progressive External Ophthalmoplegia 20
1204 c CTR178 Cataract 27 20
1205 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 20
1206 SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 20
1207 RTN004 Retinal Microaneurysm 20
1208 c RTN130 Retinitis Pigmentosa 46 20
1209 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 20
1210 GRW033 Growth Retardation, Small and Puffy Hands and Feet, and Eczema 20
1211 SLR002 Solar Retinopathy 20
1212 c MYP141 Myopia 5, Autosomal Dominant 20
1213 RDL032 Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia 20
1214 c USH043 Usher Syndrome, Type Ih 20
1215 c CRB168 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 20
1216 c CWD005 Cowden Syndrome 4 20
1217 c XLN227 X-Linked Chondrodysplasia Punctata 1 19
1218 c STS009 Sotos Syndrome 3 19
1219 NSL017 Nasolacrimal Duct Cyst 19
1220 c SPR049 Supranuclear Palsy, Progressive, 2 19
1221 CRN126 Corneal Dystrophy, Lisch Epithelial 19
1222 c MCR214 Microphthalmia, Isolated, with Coloboma 9 19
1223 OCL070 Oculopalatocerebral Syndrome 19
1224 EPB002 Epiblepharon 19
1225 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 19
1226 IDP006 Idiopathic Corneal Edema 19
1227 ACC002 Accommodative Spasm 19
1228 c MCR210 Microphthalmia, Isolated, with Coloboma 7 19
1229 c RTN061 Retinitis Pigmentosa 32 19
1230 CMB076 Combined Oxidative Phosphorylation Deficiency 31 19
1231 P MCR349 Microphthalmia, Isolated, with Coloboma 3 19
1232 c RTN180 Retinitis Pigmentosa 74 19
1233 INT313 Intellectual Developmental Disorder with Cardiac Arrhythmia 19
1234 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
1235 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 19
1236 c CTR176 Cataract, Age-Related Nuclear 19
1237 BTH002 Bothnia Retinal Dystrophy 19
1238 PRL006 Paralytic Lagophthalmos 19
1239 c CTR139 Cataract 42 19
1240 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 19
1241 ITR001 Iatrogenic Botulism 19
1242 MCR307 Microspherophakia-Metaphyseal Dysplasia 19
1243 DST036 Distal Trisomy 15q 19
1244 c ACQ050 Acquired Schizencephaly 19
1245 DST044 Distal Trisomy 14q 19
1246 c MYP144 Myopia 12, Autosomal Dominant 19
1247 c CTR110 Cataract 26, Multiple Types 19
1248 NWF001 Newfoundland Rod-Cone Dystrophy 19
1249 FCL013 Focal Chorioretinitis 19
1250 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 18
1251 c INF152 Infectious Posterior Uveitis 18
1252 c ANT067 Anterior Segment Dysgenesis 8 18
1253 c ANT087 Anterior Segment Dysgenesis 6 18
1254 c CRN280 Cornea Plana 2, Autosomal Recessive 18
1255 ARG003 Argyll Robertson Pupil 18
1256 c CHR088 Chronic Inflammation of Lacrimal Passage 18
1257 c HRD188 Hereditary Spastic Paraplegia 72 18
1258 c WRD026 Waardenburg Syndrome, Type 2c 18
1259 MCR317 Macrophthalmia, Colobomatous, with Microcornea 18
1260 c CHR449 Choroidal Dystrophy, Central Areolar 2 18
1261 c MYP133 Myopia 18, Autosomal Recessive 18
1262 c SNR006 Senior-Loken Syndrome 6 18
1263 c CTR106 Cataract 20, Multiple Types 18
1264 c SX2003 Six2-Related Frontonasal Dysplasia 18
1265 NCL001 Nuclear Senile Cataract 18
1266 OPH014 Ophthalmomandibulomelic Dysplasia 18
1267 MNT308 Mental Retardation with Optic Atrophy, Deafness, and Seizures 18
1268 DPK001 Deep Keratitis 18
1269 c CHR059 Chronic Endophthalmitis 18
1270 c CTR144 Cataract 43 18
1271 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 18
1272 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 18
1273 c CTR157 Cataract 28 18
1274 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 18
1275 c CNR029 Cone-Rod Dystrophy 19 18
1276 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 18
1277 c TRN062 Transient Neonatal Myasthenia Gravis 18
1278 c RTN063 Retinitis Pigmentosa 34 18
1279 c CTR185 Cataract 30 18
1280 c MCR271 Microphthalmia, Isolated, with Coloboma 10 18
1281 c CTR160 Cataract 45 18
1282 RTN170 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 18
1283 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 18
1284 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 18
1285 CNJ004 Conjunctival Pigmentation 18
1286 c RTN206 Retinitis Pigmentosa, Late-Adult Onset 18
1287 c RTN214 Retinitis Pigmentosa 81 18
1288 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 18
1289 c NNP012 Nanophthalmos 4 18
1290 IGG009 Igg4-Related Ophthalmic Disease 18
1291 SNL001 Senile Entropion 17
1292 CTR107 Cataract 13 with Adult I Phenotype 17
1293 c NYS012 Nystagmus 5, Congenital, X-Linked 17
1294 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 17
1295 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 17
1296 SCL008 Scleromalacia Perforans 17
1297 c CHR665 Choroidal Dystrophy, Central Areolar, 3 17
1298 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 17
1299 RTN185 Retinal Dysplasia, Primary 17
1300 MYP060 Myopic Macular Degeneration 17
1301 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 17
1302 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 17
1303 PHL001 Phlyctenulosis 17
1304 CRN007 Corneal Staphyloma 17
1305 c XLN229 X-Linked Chondrodysplasia Punctata 2 17
1306 CCT003 Cicatricial Entropion 17
1307 c NNP017 Nanophthalmos 1 17
1308 MNS013 Monosomy 13q34 17
1309 PLS001 Pulsating Exophthalmos 17
1310 c GLC089 Glaucoma 3, Primary Congenital, E 17
1311 c CTR128 Cataract 33 17
1312 BLT023 Bilateral Acute Depigmentation of the Iris 17
1313 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 17
1314 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 17
1315 MNF001 Monofixation Syndrome 17
1316 c CRN279 Cornea Plana 1, Autosomal Dominant 17
1317 c NYS013 Nystagmus 6, Congenital, X-Linked 17
1318 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
1319 TCT002 Tactile Agnosia 17
1320 c KRT050 Keratoconus 5 17
1321 APP006 Apperceptive Agnosia 17
1322 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 17
1323 ESS005 Essential Iris Atrophy 17
1324 ORB003 Orbital Tenonitis 17
1325 P MCL035 Macular Dystrophy, Retinal, 2 16
1326 CRY030 Cryptophthalmos, Unilateral or Bilateral, Isolated 16
1327 c LGB002 Leg, Absence Deformity of, with Congenital Cataract 16
1328 PHC015 Phacoanaphylactic Uveitis 16
1329 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 16
1330 c EFM001 Efemp2-Related Cutis Laxa 16
1331 c MCL039 Macular Degeneration, Age-Related, 8 16
1332 c MYP147 Myopia 19, Autosomal Dominant 16
1333 HYD049 Hydrocephalus with Cerebellar Agenesis 16
1334 c MYP041 Myopia 8 16
1335 c MYP040 Myopia 7 16
1336 c MYP048 Myopia 9 16
1337 c MYP044 Myopia 10 16
1338 c MSC139 Mosaic Variegated Aneuploidy Syndrome 3 16
1339 c KRT075 Keratoconus 9 16
1340 CRB162 Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 16
1341 CNJ002 Conjunctival Folliculosis 16
1342 EXP003 Exophthalmic Ophthalmoplegia 16
1343 c ATS186 Autosomal Recessive Spastic Paraplegia Type 68 16
1344 c KRT052 Keratoconus 6 16
1345 c HNT013 Huntington Disease-Like Syndrome 16
1346 c LPR017 Leprosy 5 16
1347 AQS001 Aqueous Misdirection 16
1348 EPT023 Epithelial and Subepithelial Dystrophy 16
1349 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 16
1350 NND003 Non-Distal Trisomy 10q 16
1351 c MCR338 Microphthalmia, Isolated, with Coloboma 1 16
1352 RTC011 Reticular Dystrophy of Retinal Pigment Epithelium 15
1353 c MYP143 Myopia 11, Autosomal Dominant 15
1354 c MYP145 Myopia 16, Autosomal Dominant 15
1355 NNH011 Non-Hereditary Retinoblastoma 15
1356 c MCL026 Macular Dystrophy, Retinal, 3 15
1357 c CRN218 Corneal Dystrophy, Fuchs Endothelial, 8 15
1358 VCL007 Vocal Cord Paralysis and Ptosis 15
1359 PRS110 Persistent Placoid Maculopathy 15
1360 ABN001 Abnormal Retinal Correspondence 15
1361 AST004 Astereognosia 15
1362 DST082 Distal Trisomy 10q 15
1363 c LPR016 Leprosy 4 15
1364 c KRT053 Keratoconus 7 15
1365 c RTN208 Retinopathy, Pericentral Pigmentary, Autosomal Recessive 15
1366 P MTC014 Mitochondrial Dna Deletion Syndromes 15
1367 ALT004 Alternating Esotropia 15
1368 INH013 Inhalational Botulism 15
1369 BLN008 Blind Hypotensive Eye 15
1370 c GLC099 Glaucoma 1, Primary Open Angle, C 15
1371 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 15
1372 c ACQ026 Acquired Pseudoxanthoma Elasticum 15
1373 P RTN200 Retinopathy, Pericentral Pigmentary, Dominant 15
1374 c LPR020 Leprosy 6 15
1375 c SPS230 Spastic Paraplegia Type 49 15
1376 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 15
1377 c TYS005 Tay-Sachs Disease, B1 Variant 15
1378 c KRT039 Keratoconus 2 15
1379 c MYP069 Myopia 14 14
1380 c SRC024 Sarcoidosis 3 14
1381 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 14
1382 c GLC101 Glaucoma 1, Open Angle, B 14
1383 c MLT069 Multiple Mitochondrial Dysfunctions Syndrome 2 14
1384 MCP034 Mucopolysaccharidosis Type 2, Attenuated Form 14
1385 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 14
1386 DSS005 Dissociated Nystagmus 14
1387 ACR078 Acral Self-Healing Collodion Baby 14
1388 EYC003 Eye Accommodation Disease 14
1389 P GLC100 Glaucoma 1, Open Angle, D 14
1390 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
1391 CYC003 Cyclotropia 14
1392 NND004 Non-Distal Monosomy 10q 14
1393 EPT024 Epithelial-Stromal Tgfbi Dystrophy 14
1394 GNR029 Generalized Galactose Epimerase Deficiency 14
1395 c INF166 Infantile Epileptic Encephalopathy 55 14
1396 c GLC051 Glaucoma 1, Open Angle, M 14
1397 ORB018 Orbital Leiomyoma 14
1398 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1399 c PSD023 Pseudo-Gaucher Disease 14
1400 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 14
1401 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 14
1402 CRN023 Corneal Deposit 14
1403 c KRT054 Keratoconus 8 14
1404 CNT088 Central Cloudy Dystrophy of Francois 14
1405 c GLC048 Glaucoma 1, Open Angle, I 14
1406 c GLC052 Glaucoma 3, Primary Congenital, C 14
1407 c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 14
1408 c ATS413 Autosomal Recessive Anterior Segment Dysgenesis 13
1409 TRR003 Terrien Marginal Degeneration 13
1410 ANR041 Aniridia-Intellectual Disability Syndrome 13
1411 CLF040 Cleft Lip-Retinopathy Syndrome 13
1412 c KRT040 Keratoconus 3 13
1413 c GLC060 Glaucoma 1, Open Angle, G 13
1414 c HLL012 Hallermann-Streiff-Like Syndrome 13
1415 TXN001 Toxin-Mediated Infectious Botulism 13
1416 c GLC104 Glaucoma 1, Open Angle, O 13
1417 c SCL053 Sclerocornea, Autosomal Dominant 13
1418 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 13
1419 ERL036 Early-Onset Posterior Subcapsular Cataract 13
1420 c INF151 Infectious Panuveitis 13
1421 c FRM005 Frmd7-Related Infantile Nystagmus 13
1422 CNG335 Congenital Ectropion Uveae 13
1423 c ACT030 Acute Dacryoadenitis 12
1424 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 12
1425 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 12
1426 P ACT070 Acute Inflammation of Lacrimal Passage 12
1427 c MYP084 Myopia 20, Autosomal Dominant 12
1428 PRD026 Pre-Descemet Corneal Dystrophy 12
1429 DPT001 Dipetalonemiasis 12
1430 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 12
1431 c USH045 Usher Syndrome, Type Iv 12
1432 c RTN217 Retinitis Pigmentosa 83 12
1433 ISL131 Isolated Foveal Hypoplasia 12
1434 HMN007 Hemangioma of Orbit 12
1435 c GLC076 Glaucoma 1, Open Angle, H 12
1436 BRD008 Borderline Glaucoma 12
1437 PRP103 Peripapillary Staphyloma 12
1438 c NNP008 Nanophthalmos 3 12
1439 ETH013 Euthyroid Graves Orbitopathy 12
1440 c JBR047 Joubert Syndrome 35 12
1441 THY013 Thyrotoxic Exophthalmos 12
1442 c KRT041 Keratoconus 4 12
1443 ISL128 Isolated Microspherophakia 12
1444 NDL008 Nodular Episcleritis 12
1445 CNG400 Congenital Hereditary Endothelial Dystrophy Type I 12
1446 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 12
1447 PRG116 Progressive Supranuclear Palsy-Corticobasal Syndrome 12
1448 P IDP065 Idiopathic Macular Telangiectasia Type 1 11
1449 c CNT026 Central Corneal Ulcer 11
1450 P ACT026 Acute Canaliculitis 11
1451 PPL023 Pupil Disease 11
1452 c GLC103 Glaucoma 1, Open Angle, K 11
1453 c RTN181 Retinitis Pigmentosa 2, X-Linked 11
1454 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 11
1455 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 11
1456 INT026 Intermittent Proptosis 11
1457 CNJ011 Conjunctival Deposit 11
1458 c GRD008 Grid2-Related Spinocerebellar Ataxia 11
1459 P GLC102 Glaucoma 1, Open Angle, J 11
1460 c SPR048 Supranuclear Palsy, Progressive, 3 11
1461 PSD006 Pseudopterygium 11
1462 CRT003 Cortical Senile Cataract 11
1463 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 11
1464 CRN002 Corneal Argyrosis 11
1465 INT176 Intraocular Medulloepithelioma 11
1466 c ACQ002 Acquired Night Blindness 11
1467 c USH011 Usher Syndrome, Type 2b 11
1468 CNG357 Congenital Symblepharon 11
1469 c FBL003 Fbln5-Related Cutis Laxa 11
1470 c INF169 Infantile Epileptic Encephalopathy 59 11
1471 MCH001 Mechanical Ectropion 11
1472 HRD017 Hordeolum Externum 11
1473 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 10
1474 ERY041 Erythrocyte Galactose Epimerase Deficiency 10
1475 CRN261 Craniosynostosis-Cataract Syndrome 10
1476 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 10
1477 TRN010 Transient Retinal Arterial Occlusion 10
1478 OPH003 Ophthalmia Nodosa 10
1479 c SPS214 Spastic Ataxia 4 10
1480 c KMT002 Kmt2b-Related Dystonia 10
1481 c SPS171 Spastic Ataxia 5 10
1482 P VRC007 Varicella, Severe Recurrent 10
1483 CNT011 Contact Blepharoconjunctivitis 10
1484 c INF168 Infantile Epileptic Encephalopathy 58 10
1485 c INF165 Infantile Epileptic Encephalopathy 56 10
1486 c INF167 Infantile Epileptic Encephalopathy 57 10
1487 c NYS019 Nystagmus, Congenital, Autosomal Recessive 10
1488 ACT168 Acute Annular Outer Retinopathy 10
1489 HYP062 Hypopyon Ulcer 10
1490 PRT027 Partial Arterial Retinal Occlusion 10
1491 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 10
1492 c CHR035 Chronic Dacryoadenitis 10
1493 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 10
1494 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 10
1495 c CNG433 Congenital Cornea Plana 10
1496 c GLC080 Glaucoma 1, Open Angle, N 9
1497 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 9
1498 c SPS163 Spastic Ataxia 3 9
1499 c SPS162 Spastic Ataxia 1 9
1500 c GLC032 Glaucoma, Hereditary 9
1501 INF115 Infectious Epithelial Keratitis 9
1502 c CHR061 Chronic Canaliculitis 9
1503 c TYS006 Tay-Sachs Disease, B Variant, Adult Form 9
1504 ULC003 Ulcerative Blepharitis 9
1505 c LTN017 Late-Infantile/juvenile Krabbe Disease 9
1506 GNC009 Gonococcal Seminal Vesiculitis 9
1507 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 9
1508 c ADL071 Adult Krabbe Disease 9
1509 NDL004 Nodular Degeneration of Cornea 9
1510 MYC004 Mycotic Corneal Ulcer 9
1511 MRG002 Marginal Corneal Ulcer 9
1512 EQT001 Equatorial Staphyloma 9
1513 CCT004 Cicatricial Lagophthalmos 9
1514 c TYS004 Tay-Sachs Disease, B Variant, Infantile Form 9
1515 c TYS003 Tay-Sachs Disease, B Variant, Juvenile Form 9
1516 MNM005 Minimal Pigment Oculocutaneous Albinism Type 1 9
1517 c SPS229 Spastic Ataxia 8 8
1518 c SPS170 Spastic Ataxia 2 8
1519 INV017 Inverse Marcus-Gunn Phenomenon 8
1520 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 8
1521 IDP047 Idiopathic Panuveitis 8
1522 MRN008 Marin-Amat Syndrome 8
1523 INT008 Intermittent Squint 8
1524 BLL005 Bullous Retinoschisis 8
1525 P TTL001 Total Internal Ophthalmoplegia 8
1526 DFF011 Diffuse Interstitial Keratitis 8
1527 c ALP055 Alpha-Mannosidosis, Infantile Form 8
1528 ORB005 Orbital Periostitis 8
1529 BRW005 Brawny Scleritis 8
1530 c ALP056 Alpha-Mannosidosis, Adult Form 8
1531 c GLL043 Galloway-Mowat Syndrome 2 8
1532 TTN002 Tetanic Cataract 8
1533 PDT010 Pediatric Intraocular Retinoblastoma 8
1534 PLZ007 Pelizaeus-Merzbacher Disease, Classic Form 8
1535 PDT013 Pediatric Extraocular Retinoblastoma 8
1536 ABN004 Abnormal Pupillary Function 8
1537 HST002 Histoplasmosis Retinitis 8
1538 PRG115 Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome 8
1539 3Q2004 3q26 Microduplication Syndrome 8
1540 MLT117 Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 8
1541 OKH001 Okihiro Syndrome Due to a Point Mutation 8
1542 PHK009 Phakomatosis Cesiomarmorata 8
1543 TRN011 Transient Refractive Change 8
1544 c SPS172 Spastic Ataxia 7 8
1545 LNS002 Lens-Induced Iridocyclitis 8
1546 c CNG348 Congenital Sialidosis Type 2 7
1547 P JVN036 Juvenile Sialidosis Type 2 7
1548 c SDR001 Siderosis of Eye 7
1549 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 7
1550 PRG117 Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome 7
1551 TRS020 Tarsal Kink Syndrome 7
1552 ANG003 Angelucci's Syndrome 7
1553 c IDP048 Idiopathic Posterior Uveitis 7
1554 c IDP066 Idiopathic Macular Telangiectasia Type 3 7
1555 FND005 Fundus Pulverulentus 7
1556 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 7
1557 c PST025 Posterior Dislocation of Lens 7
1558 LXT001 Luxation of Globe 7
1559 c PST012 Posterior Corneal Pigmentation 7
1560 ANG010 Angular Blepharoconjunctivitis 7
1561 CNJ008 Conjunctival Concretion 7
1562 ACQ003 Acquired Tear Duct Stenosis 7
1563 STP001 Staphyloma Posticum 7
1564 STR006 Stromal Corneal Pigmentation 7
1565 DST090 Distal Trisomy 2p 7
1566 PLZ008 Pelizaeus-Merzbacher Disease, Transitional Form 7
1567 PHK010 Phakomatosis Spilorosea 7
1568 SPS001 Spastic Ectropion 7
1569 c SMN004 Seminal Vesicle Chronic Gonorrhea 7
1570 IDP043 Idiopathic Uveal Effusion Syndrome 7
1571 P SMN001 Seminal Vesicle Acute Gonorrhea 7
1572 c MCR282 Microcephaly and Chorioretinopathy 1 6
1573 c MCR284 Microcephaly and Chorioretinopathy 3 6
1574 c MCR283 Microcephaly and Chorioretinopathy 2 6
1575 P ANT008 Anterior Corneal Pigmentation 6
1576 PHL004 Phlegmonous Dacryocystitis 6
1577 HYP023 Hypersecretion Glaucoma 6
1578 SQM003 Squamous Blepharitis 6
1579 SCL005 Scleroperikeratitis 6
1580 MCH004 Mechanical Entropion 6
1581 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 6
1582 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 6
1583 DBL001 Double Pterygium 6
1584 RNG002 Ring Corneal Ulcer 6
1585 CNT008 Contact Lens Corneal Edema 6
1586 RTN189 Retinal Capillary Malformation 6
1587 c SCN004 Secondary Vitreoretinal Degeneration 6
1588 DSS001 Disseminated Chorioretinitis 6
1589 STR016 Steroid-Induced Glaucoma - Borderline 6
1590 MNC005 Monocular Exotropia 6
1591 PLZ009 Pelizaeus-Merzbacher Disease in Female Carriers 6
1592 CMP057 Complete Cryptophthalmia 6
1593 ACT005 Acute Hydrops Keratoconus 6
1594 STN003 Stenosis of Lacrimal Passage 6
1595 RSD002 Residual Stage of Open Angle Glaucoma 5
1596 PRP014 Peripheral Degeneration of Cornea 5
1597 c SCN003 Secondary Corneal Edema 5
1598 BWM001 Bowman's Membrane Folds or Rupture 5
1599 c GLC035 Glaucoma, Primary Infantile Type 3a 5
1600 STB001 Stable Condition Keratoconus 5
1601 MYT001 Myotonic Cataract 5
1602 LCL001 Localized Anterior Staphyloma 5
1603 MCL004 Macular Keratitis 5
1604 RSD001 Residual Stage Angle-Closure Glaucoma 5
1605 ABN003 Abnormal Threshold of Rods 5
1606 PRM009 Primary Eye Hypotony 5
1607 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 5
1608 c GLC029 Glaucoma Type 1c 5
1609 GNC007 Gonococcal Keratitis 5
1610 LTR005 Lateral Displacement of Eye 5
1611 c GLC033 Glaucoma, Hereditary Adult Type 1a 5
1612 LCR003 Lacrimal Passage Granuloma 5
1613 EPS002 Episcleritis Periodica Fugax 5
1614 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 5
1615 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 5
1616 DMR001 De Morsier's Syndrome Information 5
1617 P PRM007 Primary Lacrimal Atrophy 5
1618 PRP012 Peripheral Focal Chorioretinitis 5
1619 GRY003 Grayson-Wilbrandt Corneal Dystrophy 5
1620 PRG012 Progressive Peripheral Pterygium 5
1621 VTR004 Vitreous Abscess 5
1622 TTL003 Total Circumpapillary Dystrophy of Choroid 5
1623 CNT022 Central Gyrate Choroidal Dystrophy 5
1624 ERL027 Early-Onset Non-Syndromic Cataract 5
1625 STN001 Stenosis of Lacrimal Sac 5
1626 RTN009 Retinal Dystrophies Primarily Involving Bruch's Membrane 5
1627 ISL071 Isolated Congenital Ectropion 5
1628 SPP006 Suppurative Uveitis 5
1629 ISL065 Isolated Congenital Alacrima 5
1630 PRT091 Partial Cryptophthalmia 5
1631 ERL042 Early-Onset Partial Cataract 5
1632 P ANT012 Anterior Dislocation of Lens 5
1633 STN002 Stenosis of Lacrimal Punctum 5
1634 CNS003 Constant Exophthalmos 5
1635 DFF008 Diffuse Secondary Choroid Atrophy 5
1636 RNG001 Ring Staphyloma 5
1637 c EPP002 Epiphora Due to Excess Lacrimation 5
1638 P EPP001 Epiphora Due to Insufficient Drainage 5
1639 GNC004 Gonococcal Iridocyclitis 5
1640 MCH005 Mechanical Lagophthalmos 5
1641 EVR001 Eversion of Lacrimal Punctum 5
1642 c SCN002 Secondary Lacrimal Atrophy 5
1643 SMP002 Simple Chronic Conjunctivitis 5
1644 DYS010 Dystrophies Primarily Involving the Retinal Pigment Epithelium 4
1645 SNL006 Senile Atrophy of Choroid 4
1646 c MCR048 Microcephaly Chorioretinopathy Recessive Form 4
1647 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
1648 PHL002 Philophthalmiasis 4
1649 THY120 Thygeson Superficial Punctate Keratopathy 4
1650 P CHR168 Chorioretinopathy Dominant Form Microcephaly 4
1651 ANG008 Angioid Streaks of Choroid 4
1652 IDP050 Idiopathic Linear Interstitial Keratitis 4
1653 GNC008 Gonococcal Endophthalmia 4
1654 PRT016 Partial Circumpapillary Choroid Dystrophy 4
1655 RSD003 Residual Stage Corticosteroid-Induced Glaucoma 4
1656 HNY001 Honey-Droplet Corneal Dystrophy 4
1657 RSC002 Rosacea Conjunctivitis 4
1658 PHT005 Phthisical Cornea 4
1659 PRS026 Parasitic Conjunctivitis 4
1660 BLN007 Blind Hypertensive Eye 4
1661 CNT006 Central Pterygium 4
1662 FLT003 Flat Retinoschisis 4
1663 RTN007 Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses 4
1664 ISL127 Isolated Blepharochalasis 4
1665 ISL126 Isolated Iridoschisis 4
1666 INT284 Intellectual Disability-Cataracts-Kyphosis Syndrome 4
1667 ISL130 Isolated Congenital Entropion 4
1668 ANT015 Anatomical Narrow Angle Borderline Glaucoma 4
1669 ISL132 Isolated Megalopapilla 4
1670 ATS361 Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome 4
1671 PRN060 Paraneoplastic Uveitis 3
1672 PPL048 Papillorenal Syndrome 50
1673 P LBR001 Leber Congenital Amaurosis 65
1674 c MCL042 Macular Degeneration, Age-Related, 1 83
1675 RTN209 Retinoschisis 1, X-Linked, Juvenile 53
1676 OPT008 Optic Nerve Neoplasm 33
1677 P CNR004 Cone-Rod Dystrophy 2 63
1678 P USH001 Usher Syndrome 59
1679 BLC001 Blue Cone Monochromacy 45
1680 KRN002 Kearns-Sayre Syndrome 61
1681 RTN015 Retinal Cancer 46
1682 P NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 32
1683 OCL031 Oculo-Cerebral Dysplasia 14
1684 CHR081 Choroideremia 55
1685 ECZ002 Eczema Herpeticum 49
1686 BRK005 Berk-Tabatznik Syndrome 9
1687 CLB010 Coloboma of Macula 51
1688 BRD025 Birdshot Chorioretinopathy 50
1689 c WRB002 Warburg Micro Syndrome 1 42
1690 DYN002 Doyne Honeycomb Retinal Dystrophy 40
1691 OPT007 Optic Nerve Glioma 44
1692 c SPS212 Spastic Ataxia 5, Autosomal Recessive 28
1693 CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 23
1694 MCR013 Microphthalmia 62
1695 SRS007 Sorsby Fundus Dystrophy 49
1696 PPL021 Papilledema 48
1697 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 46
1698 c USH038 Usher Syndrome, Type Iiia 43
1699 CRN106 Corneal Dystrophy, Gelatinous Drop-Like 39
1700 XLN012 X-Linked Congenital Stationary Night Blindness 27
1701 RTN011 Retina Lymphoma 24
1702 ACT201 Acute Posterior Multifocal Placoid Pigment Epitheliopathy 24
1703 RTN123 Retinochoroidal Coloboma 19
1704 MLN018 Moloney Syndrome 18
1705 c ALB021 Albinism, Oculocutaneous, Type Ii 57
1706 OCL009 Ocular Cancer 56
1707 c ALB009 Albinism, Oculocutaneous, Type Ia 53
1708 c ALB010 Albinism, Oculocutaneous, Type Ib 49
1709 c ACH020 Achromatopsia 2 45
1710 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 44
1711 KLV001 Kluver-Bucy Syndrome 42
1712 c MCL060 Macular Dystrophy, Vitelliform, 3 38
1713 VTR010 Vitreoretinochoroidopathy 35
1714 c RTN035 Retinal Cone Dystrophy 3b 28
1715 MNT006 Manitoba Oculotrichoanal Syndrome 27
1716 c RTN036 Retinal Cone Dystrophy 4 24
1717 c RTN032 Retinal Cone Dystrophy 1 20
1718 ULR001 Ulerythema Ophryogenesis 17
1719 P STR022 Stargardt Disease 59
1720 KNS001 Kniest Dysplasia 56
1721 3MC003 3mc Syndrome 49
1722 P KRT007 Keratoconus 49
1723 MCL075 Macular Dystrophy, Corneal 48
1724 CRN237 Corneal Dystrophy, Avellino Type 40
1725 OCL011 Ocular Motility Disease 38
1726 MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 37
1727 P CNR031 Cone-Rod Dystrophy, X-Linked, 1 32
1728 c GLC041 Glaucoma 1, Open Angle, a 32
1729 P KNB001 Knobloch Syndrome 32
1730 c CNR039 Cone-Rod Dystrophy, X-Linked, 2 31
1731 SPN348 Spondylometaphyseal Dysplasia, Axial 31
1732 c CNR038 Cone-Rod Dystrophy, X-Linked, 3 31
1733 WGN003 Wagner Syndrome 28
1734 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 26
1735 IRD003 Iridocorneal Endothelial Syndrome 25
1736 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 24
1737 WBB001 Webb-Dattani Syndrome 22
1738 OCL016 Ocular Albinism, X-Linked 19
1739 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 16
1740 ANP019 Anophthalmos with Limb Anomalies 14
1741 LPS006 Lopes Gorlin Syndrome 7
1742 P INT030 Intracranial Aneurysm 59
1743 FDB001 Foodborne Botulism 56
1744 CTS003 Coats Disease 55
1745 RTN020 Retinal Vascular Disease 54
1746 P PNV001 Panuveitis 51
1747 INT303 Intracranial Hypertension, Idiopathic 50
1748 FCH001 Fuchs' Endothelial Dystrophy 49
1749 PRS012 Pars Planitis 48
1750 c CHR095 Chronic Progressive External Ophthalmoplegia 47
1751 SCH076 Schnyder Corneal Dystrophy 44
1752 LGN005 Ligneous Conjunctivitis 42
1753 JLL001 Jalili Syndrome 41
1754 CRN286 Corneal Dystrophy, Meesmann 41
1755 c DNR003 Duane Retraction Syndrome 1 40
1756 P OGC005 Oguchi Disease 38
1757 P LTT001 Lattice Corneal Dystrophy 36
1758 BST007 Best Vitelliform Macular Dystrophy 36
1759 c CRN236 Corneal Dystrophy, Lattice Type I 34
1760 c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 32
1761 EXD009 Exudative Vitreoretinopathy 2, X-Linked 29
1762 MCL079 Macular Telangiectasia Type 2 29
1763 SML010 Simultanagnosia 29
1764 P RTN034 Retinal Cone Dystrophy 3a 28
1765 CHR158 Charles Bonnet Syndrome 26
1766 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 26
1767 MYP086 Myopathy with Extrapyramidal Signs 24
1768 c MCL073 Macular Dystrophy, Vitelliform, 1 22
1769 c MYP018 Myopia 6 22
1770 c LTT008 Lattice Corneal Dystrophy Type Ii 21
1771 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 17
1772 ALZ038 Alezzandrini Syndrome 9
1773 RTN010 Retinal Melanoma 9
1774 ALG004 Al Gazali Khidr Prem Chandran Syndrome 8
1775 PGN001 Pagon Stephan Syndrome 8
1776 MPN002 Mepan Syndrome 7
1777 FML160 Familial Spastic Paralysis 6
1778 SLN003 Silengo Lerone Pelizza Syndrome 5
1779 RTN076 Retinopathy, Arteriosclerotic 5
1780 c INT097 Intracranial Aneurysms Multiple Congenital Anomaly 4
1781 OPT022 Optic Atrophy 1 and Deafness 3
1782 OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 3
1783 P CWD001 Cowden Disease 71
1784 P MCR115 Microvascular Complications of Diabetes 5 70
1785 APR006 Apert Syndrome 69
1786 c MCL062 Mucolipidosis Ii Alpha/beta 66
1787 P DYS154 Dystonia 65
1788 P CRN015 Cornelia De Lange Syndrome 62
1789 P MCL013 Mucolipidosis Iv 61
1790 LKC009 Leukocyte Adhesion Deficiency, Type I 61
1791 P LYS001 Loeys-Dietz Syndrome 61
1792 P MLN069 Melanoma, Uveal 61
1793 KRT001 Keratoconjunctivitis Sicca 60
1794 PTR032 Peters-Plus Syndrome 60
1795 OCL020 Ocular Cicatricial Pemphigoid 59
1796 VGT001 Vogt-Koyanagi-Harada Disease 59
1797 c INS002 in Situ Carcinoma 59
1798 P CTR002 Cataract 58
1799 DBT010 Diabetic Neuropathy 58
1800 c MCR113 Microvascular Complications of Diabetes 3 57
1801 P STC001 Stickler Syndrome 56
1802 VRN004 Vernal Keratoconjunctivitis 56
1803 KRT002 Keratomalacia 56
1804 P AXN002 Axenfeld-Rieger Syndrome 56
1805 P STS008 Sotos Syndrome 1 56
1806 P SLV001 Silver-Russell Syndrome 55
1807 c MYT020 Myotonic Dystrophy 2 55
1808 VTM028 Vitamin E, Familial Isolated Deficiency of 55
1809 c CNG208 Congenital Disorder of Glycosylation, Type Iic 54
1810 PHL006 Phelan-Mcdermid Syndrome 54
1811 P RTN022 Retinal Vein Occlusion 54
1812 CCT002 Cicatricial Pemphigoid 53
1813 TRC008 Trachoma 53
1814 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 53
1815 INF006 Infant Botulism 52
1816 ALL009 Allergic Conjunctivitis 52
1817 c PST005 Posterior Uveitis 52
1818 CYT005 Cytomegalovirus Retinitis 52
1819 MCL027 Macular Dystrophy, Dominant Cystoid 52
1820 c BRD012 Bardet-Biedl Syndrome 11 52
1821 P WLL002 Weill-Marchesani Syndrome 52
1822 CHR101 Char Syndrome 51
1823 P SCL015 Scleritis 51
1824 c CNT016 Central Retinal Vein Occlusion 50
1825 FSH001 Fish-Eye Disease 50
1826 CRD002 Cri-Du-Chat Syndrome 50
1827 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 49
1828 GLD006 Goldberg-Shprintzen Syndrome 49
1829 c CNR007 Cone-Rod Dystrophy 6 49
1830 EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 48
1831 PTT004 Pituitary Apoplexy 48
1832 INT054 Intraocular Lymphoma 48
1833 MYP136 Myopathy, Centronuclear, X-Linked 48
1834 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 48
1835 c HNT010 Huntington Disease-Like 1 48
1836 MNL001 Monilethrix 47
1837 TRP014 Triploidy 47
1838 CHR492 Chromosome 13q14 Deletion Syndrome 46
1839 c USH039 Usher Syndrome, Type Ic 46
1840 P SDR002 Siderosis 46
1841 P CRN276 Corneal Endothelial Dystrophy 46
1842 c PST022 Posterior Uveal Melanoma 45
1843 c MYS051 Myasthenic Syndrome, Congenital, 5 45
1844 RTN001 Retinal Vasculitis 45
1845 GLC004 Galactokinase Deficiency 45
1846 c BRD011 Bardet-Biedl Syndrome 10 45
1847 CHR211 Chromosome 18p Deletion Syndrome 45
1848 c ALB020 Albinism, Oculocutaneous, Type Iii 45
1849 EST005 Esotropia 44
1850 c MCR120 Microvascular Complications of Diabetes 7 44
1851 PST049 Postaxial Acrofacial Dysostosis 44
1852 c BRD020 Bardet-Biedl Syndrome 8 44
1853 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 44
1854 c ANT077 Anterior Segment Dysgenesis 1 44
1855 TKL001 Tukel Syndrome 44
1856 APL002 Aplasia of Lacrimal and Salivary Glands 43
1857 P MSC022 Mosaic Variegated Aneuploidy Syndrome 43
1858 RTN021 Retinal Vascular Occlusion 43
1859 OCL025 Ocular Toxoplasmosis 43
1860 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 43
1861 c MCR133 Microvascular Complications of Diabetes 4 43
1862 c MCR130 Microvascular Complications of Diabetes 6 43
1863 LCR013 Lacrimal Duct Defect 43
1864 c ACH021 Achromatopsia 3 43
1865 c MCK032 Meckel Syndrome, Type 3 43
1866 c ATS282 Autosomal Recessive Malignant Osteopetrosis 42
1867 ACN019 Acanthamoeba Keratitis 42
1868 ANG002 Angiostrongyliasis 42
1869 c MCR112 Microvascular Complications of Diabetes 2 42
1870 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 42
1871 CHR008 Choroiditis 42
1872 c PNT036 Pontocerebellar Hypoplasia, Type 6 42
1873 INC003 Inclusion Conjunctivitis 42
1874 c MCP047 Mucopolysaccharidosis, Type Iva 42
1875 c USH040 Usher Syndrome, Type Id 42
1876 c HYP575 Hypotrichosis 7 42
1877 HYP801 Hyperferritinemia with or Without Cataract 41
1878 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 41
1879 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 41
1880 c USH020 Usher Syndrome, Type Iic 41
1881 c BRD018 Bardet-Biedl Syndrome 6 41
1882 GNT006 Giant Papillary Conjunctivitis 41
1883 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 41
1884 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 41
1885 P CHR637 Choroidal Dystrophy, Central Areolar, 1 41
1886 CRN247 Corneal Dystrophy, Thiel-Behnke Type 40
1887 c BRD017 Bardet-Biedl Syndrome 5 40
1888 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 40
1889 DPR002 Depersonalization Disorder 40
1890 CRN049 Craniolenticulosutural Dysplasia 40
1891 FNT005 Fontaine Progeroid Syndrome 40
1892 GLC001 Glaucomatocyclitic Crisis 40
1893 CHR078 Chorioretinitis 40
1894 c CTR129 Cataract 31, Multiple Types 40
1895 SLF014 Sulfite Oxidase Deficiency, Isolated 39
1896 c ADM005 Adams-Oliver Syndrome 1 39
1897 c FML008 Familial Retinoblastoma 39
1898 c MCK031 Meckel Syndrome, Type 2 39
1899 c HRM011 Hermansky-Pudlak Syndrome 8 39
1900 NRR001 Neuroretinitis 39
1901 c ANT071 Anterior Segment Dysgenesis 4 39
1902 c PNT018 Pontocerebellar Hypoplasia, Type 1b 39
1903 CNC014 Cancer-Associated Retinopathy 38
1904 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 38
1905 c ADL001 Adult Lymphoma 38
1906 c HRM012 Hermansky-Pudlak Syndrome 9 38
1907 UVL010 Uveal Disease 38
1908 c MTC010 Mitochondrial Dna Depletion Syndrome 37
1909 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 37
1910 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
1911 XFP001 Xfe Progeroid Syndrome 37
1912 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 37
1913 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 36
1914 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 36
1915 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 36
1916 BSM002 Bosma Arhinia Microphthalmia Syndrome 36
1917 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 36
1918 PHT008 Photosensitive Epilepsy 36
1919 ACT012 Acute Hemorrhagic Conjunctivitis 36
1920 c PRM023 Pre-Malignant Neoplasm 36
1921 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 36
1922 PRL047 Prolonged Electroretinal Response Suppression 36
1923 LSS001 Loiasis 36
1924 c SRC023 Sarcoidosis 2 36
1925 P SCH017 Schindler Disease 35
1926 c FML294 Familial Short Qt Syndrome 35
1927 MLT035 Multifocal Choroiditis 35
1928 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 35
1929 JBR005 Joubert Syndrome with Ocular Anomalies 35
1930 KNZ001 Kanzaki Disease 35
1931 CNJ009 Conjunctival Cancer 35
1932 c ALB024 Albinism, Ocular, Type I 35
1933 c CNR003 Cone-Rod Dystrophy 1 35
1934 P PRS013 Prosopagnosia 35
1935 P MSC002 Muscular Dystrophy-Dystroglycanopathy 34
1936 BYL001 Baylisascariasis 34
1937 WND001 Wound Botulism 34
1938 BLP004 Blepharophimosis 34
1939 SPR034 Superior Limbic Keratoconjunctivitis 34
1940 CRN141 Corneal Dystrophy, Reis-Bucklers Type 34
1941 c HRM010 Hermansky-Pudlak Syndrome 7 34
1942 LMB008 Limb-Mammary Syndrome 34
1943 CRN021 Cornea Cancer 34
1944 MBM001 Meibomian Cyst 34
1945 PNC059 Punctate Inner Choroidopathy 33
1946 MCL018 Macular Dystrophy, Concentric Annular 33
1947 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 33
1948 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
1949 OCL033 Oculocerebral Syndrome with Hypopigmentation 33
1950 c HNT011 Huntington Disease-Like 3 33
1951 OCL048 Oculoauricular Syndrome 33
1952 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 33
1953 NRT011 Neurotrophic Keratopathy 33
1954 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 33
1955 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 32
1956 OPH002 Ophthalmia Neonatorum 32
1957 c PNT044 Pontocerebellar Hypoplasia, Type 2a 32
1958 P ALB023 Albinism, Ocular, with Sensorineural Deafness 32
1959 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 32
1960 c MTC063 Mitochondrial Dna Depletion Syndrome 3 32
1961 c DYS039 Dyskeratosis Congenita Autosomal Dominant 32
1962 TBL025 Tubulointerstitial Nephritis with Uveitis 32
1963 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
1964 P VTR008 Vitreoretinal Degeneration 31
1965 CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 31
1966 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
1967 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 31
1968 c CCK002 Cockayne Syndrome Type I 31
1969 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 31
1970 OCL063 Oculopharyngodistal Myopathy 31
1971 RNG003 Ring Dermoid of Cornea 31
1972 c PLZ002 Pelizaeus-Merzbacher-Like Disease 31
1973 c CTR102 Cataract 2, Multiple Types 31
1974 FRN020 Frontal Fibrosing Alopecia 31
1975 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 31
1976 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 31
1977 c CNR006 Cone-Rod Dystrophy 5 31
1978 c PNT032 Pontocerebellar Hypoplasia, Type 9 31
1979 c CTR096 Cataract 6, Multiple Types 30
1980 FCH002 Fuchs' Heterochromic Uveitis 30
1981 c JVN015 Juvenile Huntington Disease 30
1982 c BRD019 Bardet-Biedl Syndrome 7 30
1983 ECT102 Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 30
1984 FML292 Familial Drusen 30
1985 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 30
1986 c ALG016 Alagille Syndrome 2 30
1987 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
1988 BRN062 Burn-Mckeown Syndrome 30
1989 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
1990 BLD161 Blood Group, Globoside System 30
1991 P SPN410 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 30
1992 c STC013 Stickler Syndrome, Type Ii 30
1993 c HRD198 Hereditary Dystonia 30
1994 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 30
1995 c DYS040 Dyskeratosis Congenita Autosomal Recessive 30
1996 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 30
1997 c CTR095 Cataract 8, Multiple Types 29
1998 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 29
1999 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 29
2000 FRN022 Frontofacionasal Dysplasia 29
2001 c LKD018 Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 29
2002 c GCH013 Gaucher Disease, Type Iiic 28
2003 c CTR132 Cataract 3, Multiple Types 28