Eye Diseases Category (3483 diseases)


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

# Family MCID Name MIFTS
1 NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 57
2 LBR031 Leber Optic Atrophy and Dystonia 39
3 c SKN068 Skin/hair/eye Pigmentation, Variation in, 3 25
4 c MCL042 Macular Degeneration, Age-Related, 1 84
5 c SKN065 Skin/hair/eye Pigmentation, Variation in, 1 27
6 P MCL058 Macular Degeneration, Early-Onset 23
7 SCH038 Schopf-Schulz-Passarge Syndrome 51
8 BHR001 Behr Syndrome 51
9 OPT001 Optic Disk Drusen 34
10 OCL011 Ocular Motility Disease 45
11 c SKN071 Skin/hair/eye Pigmentation, Variation in, 9 15
12 P EYD002 Eye Disease 57
13 OPT062 Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures 33
14 HYP742 Hyperpigmentation of Eyelids 13
15 DYN002 Doyne Honeycomb Retinal Dystrophy 44
16 VSL013 Visual Impairment and Progressive Phthisis Bulbi 36
17 OPT005 Optic Nerve Astrocytoma 23
18 EYL006 Eyelid Benign Neoplasm 22
19 OPT079 Optic Atrophy 13 with Retinal and Foveal Abnormalities 20
20 DRY001 Dry Eye Syndrome 49
21 TRC077 Trichomegaly 39
22 HYP859 Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities 27
23 SHR097 Short Tarsus with Absence of Lower Eyelashes 25
24 BRK005 Berk-Tabatznik Syndrome 8
25 VSL002 Visual Epilepsy 39
26 VSL003 Visual Agnosia 33
27 OPT002 Optic Nerve Sheath Meningioma 30
28 EYB005 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly 14
29 CHL024 Childhood Optic Nerve Glioma 11
30 GLC005 Glaucomatous Atrophy of Optic Disc 7
31 VNS001 Venous Tributary Occlusion of Retina 7
32 CHL023 Childhood Optic Tract Astrocytoma 6
33 RMS001 Rem Sleep Behavior Disorder 47
34 SCT002 Scotoma 42
35 OPT032 Optic Pathway Glioma 34
36 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy 32
37 P HRD022 Hordeolum 28
38 c INT047 Internal Hordeolum 24
39 EXF001 Exfoliation Syndrome 55
40 AMB002 Amblyopia 49
41 PPL021 Papilledema 49
42 LSS001 Loiasis 45
43 GLC098 Glaucoma-Related Pigment Dispersion Syndrome 44
44 WGN003 Wagner Syndrome 31
45 ATM076 Autoimmune Retinopathy 27
46 ACT201 Acute Posterior Multifocal Placoid Pigment Epitheliopathy 21
47 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 19
48 RTN123 Retinochoroidal Coloboma 19
49 ALL005 Allergic Contact Dermatitis of Eyelid 7
50 c LBR004 Leber Congenital Amaurosis 1 53
51 OCL006 Ocular Hypertension 53
52 c LBR012 Leber Congenital Amaurosis 2 52
53 EST005 Esotropia 43
54 ACT011 Acute Contagious Conjunctivitis 41
55 P JVN042 Juvenile Retinoschisis 39
56 KLV001 Kluver-Bucy Syndrome 34
57 XLN012 X-Linked Congenital Stationary Night Blindness 28
58 EYL002 Eyelid Carcinoma 27
59 SPN033 Spontaneous Ocular Nystagmus 25
60 CMB047 Combined Oxidative Phosphorylation Deficiency 18 24
61 ICH066 Ichthyosis--Cheek--Eyebrow Syndrome 24
62 c SKN064 Skin/hair/eye Pigmentation, Variation in, 6 14
63 c SKN069 Skin/hair/eye Pigmentation, Variation in, 7 14
64 c SKN072 Skin/hair/eye Pigmentation, Variation in, 10 13
65 c RTN201 Retinoschisis, Autosomal Dominant 12
66 SJG009 Sjogren-Larsson-Like Ichthyosis Without Cns or Eye Involvement 11
67 OCL031 Oculo-Cerebral Dysplasia 8
68 ANT020 Anterior Optic Tract Meningioma 8
69 PRM009 Primary Eye Hypotony 5
70 CRT010 Crater-Like Holes of Optic Disc 5
71 MCL006 Macular Retinal Edema 56
72 KRT001 Keratoconjunctivitis Sicca 49
73 P CND005 Cone Dystrophy 47
74 ALB002 Albinism 46
75 c RNG023 Ring Chromosome 7 43
76 RFR003 Refractive Error 41
77 OCL052 Ocular Dominance 40
78 P RNG032 Ring Chromosome 39
79 3MC001 3mc Syndrome 2 37
80 ABS022 Absolute Glaucoma 34
81 ART110 Arteritic Anterior Ischemic Optic Neuropathy 34
82 c RNG004 Ring Chromosome 1 32
83 c RNG017 Ring Chromosome 21 32
84 c RNG029 Ring Chromosome 14 Syndrome 31
85 c RNG020 Ring Chromosome 4 31
86 c CND012 Cone Dystrophy 4 31
87 c RNG008 Ring Chromosome 13 31
88 c RNG018 Ring Chromosome 22 30
89 c RNG022 Ring Chromosome 6 28
90 c RNG024 Ring Chromosome 8 28
91 c RNG007 Ring Chromosome 12 27
92 c RNG010 Ring Chromosome 15 27
93 c RNG016 Ring Chromosome 20 26
94 c RNG005 Ring Chromosome 10 26
95 c RNG013 Ring Chromosome 18 25
96 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 24
97 c RNG015 Ring Chromosome 2 22
98 RTN229 Retinitis Pigmentosa 87 with Choroidal Involvement 20
99 NTR002 Nutritional Optic Neuropathy 20
100 c RNG021 Ring Chromosome 5 20
101 c RNG012 Ring Chromosome 17 20
102 c RNG025 Ring Chromosome 9 19
103 c RNG006 Ring Chromosome 11 19
104 c RNG019 Ring Chromosome 3 19
105 EYC003 Eye Accommodation Disease 18
106 c RNG014 Ring Chromosome 19 17
107 c RNG011 Ring Chromosome 16 17
108 ULR001 Ulerythema Ophryogenesis 16
109 c RNG031 Ring Chromosome Y Syndrome 16
110 INT303 Intracranial Hypertension, Idiopathic 56
111 WDM004 Wiedemann-Steiner Syndrome 49
112 c LBR018 Leber Congenital Amaurosis 8 47
113 P BLP003 Blepharospasm 45
114 c LBR019 Leber Congenital Amaurosis 9 45
115 c LBR016 Leber Congenital Amaurosis 6 43
116 P SDR002 Siderosis 42
117 c LBR008 Leber Congenital Amaurosis 13 41
118 P CNR031 Cone-Rod Dystrophy, X-Linked, 1 37
119 c BLP048 Blepharospasm, Benign Essential 36
120 c GLC114 Glaucoma, Primary Closed-Angle 36
121 c CNR038 Cone-Rod Dystrophy, X-Linked, 3 35
122 P ACT028 Acute Closed-Angle Glaucoma 32
123 FML286 Familial Isolated Trichomegaly 31
124 c MCL052 Macular Degeneration, Age-Related, 13 30
125 c CNR039 Cone-Rod Dystrophy, X-Linked, 2 28
126 MCL057 Macular Dystrophy with Central Cone Involvement 28
127 AMT001 Ametropic Amblyopia 26
128 KRT074 Keratoendotheliitis Fugax Hereditaria 25
129 OCL016 Ocular Albinism, X-Linked 24
130 INT012 Interval Angle-Closure Glaucoma 23
131 RB1001 Rab18 Deficiency 22
132 HTR005 Heterochromia Iridis 22
133 JVN026 Jeavons Syndrome 21
134 NGH031 Night Blindness, Congenital Stationary, Type1i 20
135 19P004 19p13.13 Deletion Syndrome 19
136 c LBR034 Leber Congenital Amaurosis 19 18
137 MYP135 Myopia 26, X-Linked, Female-Limited 17
138 GRP007 Grouped Pigmentation of the Retina 17
139 ANP019 Anophthalmos with Limb Anomalies 16
140 PTR030 Pterygium of Conjunctiva and Cornea 16
141 NRD120 Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 14
142 ECT009 Ectopia Pupillae 13
143 FML160 Familial Spastic Paralysis 8
144 LXT001 Luxation of Globe 7
145 c SDR001 Siderosis of Eye 7
146 HYP046 Hypopigmentation of Eyelid 7
147 P ENC018 Encephalopathy 62
148 MNL001 Monilethrix 49
149 KHN001 Kuhnt-Junius Degeneration 48
150 c LBR005 Leber Congenital Amaurosis 10 45
151 GLC084 Glaucoma, Normal Tension 45
152 c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 43
153 c LBR015 Leber Congenital Amaurosis 5 42
154 CRT012 Cortical Blindness 42
155 P CLS010 Cluster Headache 42
156 BSL037 Basal Laminar Drusen 41
157 c HYP581 Hypotrichosis 6 40
158 P NYS013 Nystagmus 6, Congenital, X-Linked 39
159 c MCL039 Macular Degeneration, Age-Related, 8 39
160 CRB016 Carbuncle 39
161 OCL025 Ocular Toxoplasmosis 39
162 c LBR017 Leber Congenital Amaurosis 7 38
163 OPT010 Optic Papillitis 38
164 ORB006 Orbital Cellulitis 38
165 DNC004 Diencephalic Syndrome 36
166 c MCL043 Macular Degeneration, Age-Related, 2 35
167 HYD007 Hydrophthalmos 35
168 CNR033 Cone-Rod Synaptic Disorder, Congenital Nonprogressive 35
169 PRR004 Preretinal Fibrosis 35
170 DSN002 Desanto-Shinawi Syndrome 35
171 c LBR006 Leber Congenital Amaurosis 11 35
172 OCL066 Oculogyric Crisis 35
173 c CHR054 Chronic Closed-Angle Glaucoma 33
174 SML010 Simultanagnosia 32
175 IRS003 Iris Disease 31
176 MLT035 Multifocal Choroiditis 31
177 LGN005 Ligneous Conjunctivitis 31
178 ACN019 Acanthamoeba Keratitis 31
179 STR019 Steroid-Induced Glaucoma 30
180 SHP001 Shipyard Eye 30
181 P MCR352 Microphthalmia, Isolated, with Coloboma 6 30
182 c NYS017 Nystagmus 1, Congenital, X-Linked 29
183 RTN005 Retinal Lattice Degeneration 28
184 MCL079 Macular Telangiectasia Type 2 28
185 STR046 Stargardt Macular Degeneration 27
186 EYD001 Eye Degenerative Disease 27
187 PHC002 Phacogenic Glaucoma 26
188 TRM002 Traumatic Glaucoma 26
189 CBB001 Cobblestone Retinal Degeneration 25
190 c MCR214 Microphthalmia, Isolated, with Coloboma 9 24
191 PSD005 Pseudoretinitis Pigmentosa 24
192 OCL004 Ocular Hyperemia 24
193 c MCR349 Microphthalmia, Isolated, with Coloboma 3 24
194 TCT002 Tactile Agnosia 23
195 AQS001 Aqueous Misdirection 22
196 c MCR350 Microphthalmia, Isolated, with Coloboma 5 21
197 INT334 Intellectual Developmental Disorder and Retinitis Pigmentosa 20
198 c HYP832 Hypotrichosis 14 20
199 AST004 Astereognosia 19
200 c MCR210 Microphthalmia, Isolated, with Coloboma 7 19
201 c MCR271 Microphthalmia, Isolated, with Coloboma 10 19
202 P TLN014 Tl Antigen 19
203 PRT024 Partial Optic Atrophy 18
204 c SKN066 Skin/hair/eye Pigmentation, Variation in, 5 18
205 c OPT071 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 18
206 BLN017 Balint Syndrome 17
207 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 16
208 LTR005 Lateral Displacement of Eye 16
209 BLN008 Blind Hypotensive Eye 15
210 SPT020 Spatial Visualization, Aptitude for 15
211 c CLS053 Cluster Headache, Familial 15
212 APR010 Apraxia of Eyelid Opening 15
213 c MCR335 Microphthalmia, Isolated, with Coloboma 4 14
214 CHL133 Cholestasis with Gallstone, Ataxia, and Visual Disturbance 13
215 BLS004 Blessig's Cysts 13
216 c MCR338 Microphthalmia, Isolated, with Coloboma 1 13
217 NGL005 Ngly1-Congenital Disorder of Deglycosylation 13
218 MTP036 Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 13
219 c HR4001 Hr44 Antigen 12
220 c MCR346 Microphthalmia, Isolated, with Coloboma 2 12
221 OPT072 Opticocochleodentate Degeneration 11
222 c ADM003 Adamtsl4-Related Eye Disorders 11
223 TNT001 Tented Eyebrows 11
224 MYL068 Myelinated Optic Nerve Fibers 11
225 OPT073 Optic Atrophy--Spastic Paraplegia Syndrome 11
226 SHR049 Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome 11
227 NRP050 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 10
228 SPS217 Spastic Paraplegia, Optic Atrophy, and Dementia 10
229 ALZ038 Alezzandrini Syndrome 10
230 HYP023 Hypersecretion Glaucoma 9
231 FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 9
232 OPT067 Optic Atrophy with Demyelinating Disease of Cns 9
233 DVL026 Developmental Defect of the Eye 9
234 LTT009 Lattice Degeneration of Retina Leading to Retinal Detachment 8
235 HLR003 Hole Retinal Cyst 8
236 VSL001 Visual Verbal Agnosia 8
237 ALG004 Al Gazali Khidr Prem Chandran Syndrome 8
238 c XHN001 Xh Antigen 7
239 PGN001 Pagon Stephan Syndrome 7
240 CNT006 Central Pterygium 7
241 CYS012 Cystoid Macular Retinal Degeneration 7
242 TRS032 Tristichiasis 7
243 c ENC068 Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect 7
244 SNL002 Senile Reticular Retinal Degeneration 6
245 EYB006 Eyebrow, Whorl in 5
246 CLB023 Coloboma of Inferior Eyelid 5
247 CLB024 Coloboma of Superior Eyelid 5
248 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 5
249 SPS224 Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal 5
250 ECZ001 Eczematous Dermatitis of Eyelid 5
251 PRP004 Peripheral Scars of Retina 5
252 SLN003 Silengo Lerone Pelizza Syndrome 5
253 HYP045 Hypertrichosis of Eyelid 4
254 HYP044 Hypotrichosis of Eyelid 4
255 DSC002 Discoid Lupus Erythematosus of Eyelid 4
256 ECC013 Eccrine Syringofibroadenomatosis with Eyelid Abnormalities 4
257 RTN076 Retinopathy, Arteriosclerotic 4
258 DMR001 De Morsier's Syndrome Information 4
259 RRG068 Rare Genetic Optic Nerve Disorder 4
260 P GNT060 Genetic Eye Tumor 3
261 c RRG044 Rare Genetic Tumor 3
262 P RRG058 Rare Genetic Disorder of the Anterior Segment of the Eye 3
263 RRG071 Rare Genetic Disorder of the Visual Organs 3
264 CLB012 Coloboma of Optic Papilla 3
265 GNT069 Genetic Developmental Defect of the Eye 3
266 GNT168 Genetic Congenital Malformation of the Eye with Glaucoma As a Major Feature 3
267 STR110 Structural Developmental Eye Defect of Genetic Origin 3
268 CNG589 Congenital Optic Disc Excavation of Genetic Origin 3
269 CNG068 Congenital Cystic Eye Multiple Ocular and Intracranial Anomalies 2
270 VSL006 Visual Pathway and Hypothalamic Glioma, Childhood 2
271 LGH007 Leigh Syndrome 70
272 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69
273 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 68
274 BLS001 Blau Syndrome 68
275 c GCH015 Gaucher Disease, Type I 67
276 P MYS003 Myasthenia Gravis 67
277 P CRN015 Cornelia De Lange Syndrome 67
278 c MNN047 Mannosidosis, Alpha B, Lysosomal 67
279 NVS017 Nevus, Epidermal 66
280 P BRD002 Bardet-Biedl Syndrome 66
281 P KBK002 Kabuki Syndrome 1 66
282 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
283 c HRD010 Hereditary Spastic Paraplegia 65
284 c FML346 Familial Adenomatous Polyposis 1 65
285 P ZLL001 Zellweger Syndrome 65
286 CRB011 Cerebrotendinous Xanthomatosis 64
287 INC021 Incontinentia Pigmenti 63
288 RBR002 Roberts-Sc Phocomelia Syndrome 63
289 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63
290 MLT163 Multiple Pterygium Syndrome, Escobar Variant 62
291 KRN002 Kearns-Sayre Syndrome 62
292 c TYR012 Tyrosinemia, Type I 61
293 c MCP004 Mucopolysaccharidosis Iv 61
294 c CRN139 Cornelia De Lange Syndrome 1 61
295 P ADM011 Adams-Oliver Syndrome 60
296 P NMN002 Niemann-Pick Disease 60
297 NRR002 Norrie Disease 59
298 P GNR002 Generalized Epilepsy with Febrile Seizures Plus 59
299 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58
300 P SCK004 Seckel Syndrome 58
301 P CRN323 Cranioectodermal Dysplasia 58
302 VSC063 Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations 57
303 c NMN016 Niemann-Pick Disease, Type B 56
304 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 55
305 VGT001 Vogt-Koyanagi-Harada Disease 55
306 P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 55
307 HMF006 Hemifacial Microsomia 55
308 c INT064 Intermediate Uveitis 54
309 c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 54
310 P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 54
311 P GRS003 Griscelli Syndrome 54
312 c PST005 Posterior Uveitis 54
313 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 52
314 CHR101 Char Syndrome 52
315 MTC206 Mitochondrial Complex Iv Deficiency, Nuclear Type 5 52
316 LYM029 Lymphedema-Distichiasis Syndrome 52
317 P SLV027 Silver-Russell Syndrome 1 52
318 c BRD012 Bardet-Biedl Syndrome 11 52
319 P NGH001 Night Blindness 52
320 PTH003 Pathologic Nystagmus 52
321 P NRD007 Neurodegeneration with Brain Iron Accumulation 51
322 NNT017 Neonatal Adrenoleukodystrophy 51
323 c 3MT015 3-Methylglutaconic Aciduria, Type I 51
324 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 51
325 P JVN008 Juvenile Glaucoma 51
326 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 50
327 P SPS133 Spastic Paraplegia 2, X-Linked 50
328 BLP005 Blepharitis 50
329 PST049 Postaxial Acrofacial Dysostosis 50
330 RVS001 Revesz Syndrome 49
331 c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 49
332 c SCK009 Seckel Syndrome 1 49
333 P TYR004 Tyrosinemia 49
334 c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 49
335 c CRN108 Cranioectodermal Dysplasia 1 48
336 OPS006 Opsoclonus-Myoclonus Syndrome 48
337 CHR008 Choroiditis 48
338 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 47
339 VRN004 Vernal Keratoconjunctivitis 47
340 c MCK031 Meckel Syndrome, Type 2 47
341 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 47
342 CRN027 Corneal Neovascularization 47
343 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 45
344 c RTN047 Retinitis Pigmentosa 18 45
345 CNJ012 Conjunctival Disease 45
346 c 3MT014 3-Methylglutaconic Aciduria, Type V 45
347 SVN002 Sveinsson Chorioretinal Atrophy 45
348 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
349 IRT001 Iritis 45
350 c ATM099 Autoimmune Uveitis 44
351 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 44
352 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
353 MCL003 Macular Holes 44
354 c RTN141 Retinitis Pigmentosa 39 44
355 P DCR003 Dacryoadenitis 44
356 c MCR137 Microphthalmia, Isolated 2 44
357 RPP001 Rapp-Hodgkin Syndrome 44
358 c ORT011 Orthostatic Hypotension 1 43
359 P FRN036 Frontonasal Dysplasia 1 43
360 c RTN054 Retinitis Pigmentosa 25 43
361 BRT046 Baraitser-Winter Cerebrofrontofacial Syndrome 43
362 c CNG209 Congenital Disorder of Glycosylation, Type Iif 43
363 FNT005 Fontaine Progeroid Syndrome 43
364 c CNG124 Congenital Rubella 43
365 c RTN043 Retinitis Pigmentosa 13 43
366 c LBR007 Leber Congenital Amaurosis 12 43
367 c NGH007 Night Blindness, Congenital Stationary, Type 1b 43
368 c JBR024 Joubert Syndrome 14 43
369 c WRB004 Warburg Micro Syndrome 3 42
370 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 42
371 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 42
372 c BRD044 Bardet-Biedl Syndrome 17 42
373 EXT022 Exotropia 42
374 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 42
375 c SPN100 Spinocerebellar Ataxia 27 41
376 VTR003 Vitreous Detachment 41
377 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
378 ATP013 Atopic Keratoconjunctivitis 41
379 c MSC106 Mosaic Variegated Aneuploidy Syndrome 2 41
380 c WRB003 Warburg Micro Syndrome 2 41
381 c CNG198 Congenital Disorder of Glycosylation, Type Il 41
382 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 41
383 c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 41
384 P LCR008 Lacrimal Apparatus Disease 41
385 UVL010 Uveal Disease 40
386 c RTN114 Retinitis Pigmentosa 58 40
387 c SCK015 Seckel Syndrome 2 40
388 c CNR024 Cone-Rod Dystrophy 13 40
389 MCH006 Mechanical Strabismus 40
390 FNG016 Fungal Keratitis 40
391 ANG004 Angioid Streaks 39
392 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 39
393 c SCK011 Seckel Syndrome 5 39
394 OCL015 Oculomotor Apraxia 39
395 c RTN055 Retinitis Pigmentosa 26 39
396 P SCL013 Scleral Disease 39
397 c SCK010 Seckel Syndrome 4 39
398 c GRN064 Granulomatous Disease, Chronic, Autosomal Recessive, 3 39
399 c NNN020 Noonan Syndrome 7 39
400 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 39
401 c HYP559 Hypotrichosis 8 39
402 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 39
403 c RBN008 Rubinstein-Taybi Syndrome 2 38
404 c RTN129 Retinitis Pigmentosa 49 38
405 P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 38
406 c MCL044 Macular Degeneration, Age-Related, 9 38
407 RTN002 Retinal Perforation 37
408 c CRN109 Cranioectodermal Dysplasia 2 37
409 c PLZ002 Pelizaeus-Merzbacher-Like Disease 37
410 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 37
411 c MCL078 Macular Degeneration, Age-Related, 14 37
412 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
413 BTH002 Bothnia Retinal Dystrophy 37
414 c CNG188 Congenital Disorder of Glycosylation, Type if 37
415 c SCK029 Seckel Syndrome 7 37
416 c NGH008 Night Blindness, Congenital Stationary, Autosomal Dominant 3 37
417 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 37
418 c ACT067 Acute Conjunctivitis 36
419 c ALB015 Albinism, Oculocutaneous, Type V 36
420 END072 Endotheliitis 36
421 c CTR122 Cataract 5, Multiple Types 36
422 PTT063 Pattern Dystrophy 36
423 c RTN146 Retinitis Pigmentosa 62 36
424 AKN002 Akinetic Mutism 36
425 P IDP049 Idiopathic Anterior Uveitis 36
426 DBT007 Diabetic Cataract 36
427 P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 36
428 c RTN157 Retinitis Pigmentosa 37 35
429 EPC005 Epicanthus 35
430 c RTN064 Retinitis Pigmentosa 35 35
431 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
432 c LBR029 Leber Congenital Amaurosis 17 35
433 c STS007 Sotos Syndrome 2 35
434 c CNR006 Cone-Rod Dystrophy 5 35
435 CTR014 Cataract Microcornea Syndrome 35
436 BLP006 Blepharoconjunctivitis 35
437 OPH002 Ophthalmia Neonatorum 35
438 c CNR021 Cone-Rod Dystrophy 10 35
439 c SPN102 Spinocerebellar Ataxia 30 35
440 c MNS014 Monosomy 22 34
441 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
442 c NNN013 Noonan Syndrome 6 34
443 c HYP576 Hypotrichosis 4 34
444 c PRX050 Peroxisome Biogenesis Disorder 9b 34
445 P ENT005 Entropion 34
446 HRD016 Hereditary Retinal Dystrophy 33
447 c FRS015 Fraser Syndrome 3 33
448 c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 33
449 c RTN131 Retinitis Pigmentosa 27 33
450 P DSB002 Desbuquois Dysplasia 33
451 c SPS142 Spastic Ataxia 2, Autosomal Recessive 33
452 c HYP564 Hypocalcemia, Autosomal Dominant 2 33
453 PSD008 Pseudopapilledema 33
454 OCL033 Oculocerebral Syndrome with Hypopigmentation 33
455 AMR003 Amaurosis Fugax 32
456 c INF122 Infantile Krabbe Disease 32
457 INT042 Internuclear Ophthalmoplegia 32
458 c AXN012 Axenfeld-Rieger Syndrome, Type 2 32
459 ANS002 Aniseikonia 32
460 c SCK033 Seckel Syndrome 8 32
461 CRN274 Corneal Dystrophy, Posterior Amorphous 32
462 c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 32
463 c RTN061 Retinitis Pigmentosa 32 32
464 c PRX043 Peroxisome Biogenesis Disorder 6b 31
465 c INF019 Infectious Anterior Uveitis 31
466 c HRD186 Hereditary Spastic Paraplegia 51 31
467 ERL027 Early-Onset Non-Syndromic Cataract 31
468 c SCK032 Seckel Syndrome 6 31
469 c RTN067 Retinitis Pigmentosa 41 31
470 BTT011 Butterfly-Shaped Pigment Dystrophy 30
471 c SHR033 Short Qt Syndrome 3 30
472 c ANT023 Anterior Scleritis 30
473 LGP001 Lagophthalmos 30
474 c MCL059 Macular Dystrophy, Patterned, 1 30
475 c HYP515 Hypotrichosis 3 30
476 c RTN147 Retinitis Pigmentosa 48 30
477 c GLL040 Galloway-Mowat Syndrome 3 29
478 c RTN148 Retinitis Pigmentosa 63 29
479 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 29
480 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
481 c PST008 Posterior Scleritis 28
482 c ACT047 Acute Endophthalmitis 28
483 P ERL043 Early-Onset Nuclear Cataract 28
484 SNC001 Sunct Headache 28
485 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 28
486 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 28
487 THL003 Thelaziasis 28
488 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 28
489 INT313 Intellectual Developmental Disorder with Cardiac Arrhythmia 28
490 c HRD188 Hereditary Spastic Paraplegia 72 28
491 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27
492 c SPN421 Spinocerebellar Ataxia 47 27
493 c DVL091 Developmental and Epileptic Encephalopathy 67 27
494 P PPL023 Pupil Disease 27
495 KRT057 Keratosis Follicularis Spinulosa Decalvans, X-Linked 27
496 c DVL089 Developmental and Epileptic Encephalopathy 65 27
497 ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 27
498 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
499 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 26
500 c MCK035 Meckel Syndrome, Type 10 26
501 BLP001 Blepharochalasis 26
502 HMC012 Hemicrania Continua 26
503 c XLN065 X-Linked Infantile Nystagmus 26
504 BLP041 Blepharochalasis and Double Lip 26
505 CRN273 Corneal Dystrophy, Subepithelial Mucinous 26
506 SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 26
507 c JBR021 Joubert Syndrome 18 26
508 c CNR027 Cone-Rod Dystrophy 17 26
509 c DVL093 Developmental and Epileptic Encephalopathy 69 25
510 c DVL097 Developmental and Epileptic Encephalopathy 73 25
511 c SPS027 Spastic Paraplegia 17 25
512 CLB009 Coloboma of Iris 25
513 EXF002 Exfoliative Ichthyosis 25
514 c JBR040 Joubert Syndrome 30 25
515 HRD037 Hardikar Syndrome 25
516 ACT038 Acute Retrobulbar Neuritis 25
517 ACC002 Accommodative Spasm 25
518 c FBL003 Fbln5-Related Cutis Laxa 25
519 PNC012 Punctate Epithelial Keratoconjunctivitis 25
520 c CNR029 Cone-Rod Dystrophy 19 24
521 c SCK037 Seckel Syndrome 9 24
522 c JBR043 Joubert Syndrome 32 24
523 c GNR046 Generalized Epilepsy with Febrile Seizures Plus, Type 10 24
524 CMB100 Combined Oxidative Phosphorylation Deficiency 44 24
525 c ATS438 Autosomal Recessive Spastic Ataxia 24
526 P PRM227 Primary Orthostatic Hypotension 24
527 HRP011 Herpes Zoster Ophthalmicus 24
528 c SPS214 Spastic Ataxia 4 24
529 c MCL030 Macular Degeneration, Age-Related, 10 24
530 KRT020 Keratoconus Posticus Circumscriptus 24
531 c SCK038 Seckel Syndrome 10 24
532 SCL008 Scleromalacia Perforans 24
533 c MTC074 Metachromatic Leukodystrophy, Adult Form 23
534 c CRN147 Corneal Dystrophy, Fuchs Endothelial, 6 23
535 DYS096 Dyskeratosis, Hereditary Benign Intraepithelial 23
536 SCL011 Sclerosing Keratitis 23
537 c DVL065 Developmental and Epileptic Encephalopathy 40 23
538 ISL145 Isolated Macular Dystrophy 23
539 MSC089 Mosaic Monosomy X 23
540 c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 23
541 CLB011 Coloboma of Macula with Type B Brachydactyly 22
542 c CNT026 Central Corneal Ulcer 22
543 c MCL071 Macular Dystrophy, Patterned, 2 22
544 FLY003 Flynn-Aird Syndrome 22
545 ERY043 Euryblepharon 22
546 TTR019 Tetrasomy 5p 22
547 MTC230 Mitochondrial Complex I Deficiency, Nuclear Type 36 22
548 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
549 c RTN196 Retinitis Pigmentosa 78 21
550 c MCL051 Macular Degeneration, Age-Related, 12 21
551 c SPS023 Spastic Paraplegia 13 21
552 c ORT012 Orthostatic Hypotension 2 21
553 ISL019 Isolated Duane Retraction Syndrome 21
554 ALG024 Alg6-Congenital Disorder of Glycosylation 21
555 ERL042 Early-Onset Partial Cataract 21
556 c NGH022 Night Blindness, Congenital Stationary, Type 1g 21
557 c SPS233 Spastic Ataxia 9, Autosomal Recessive 21
558 CRN023 Corneal Deposit 21
559 c SPS171 Spastic Ataxia 5 21
560 CTF001 Catifa Syndrome 21
561 c SPS229 Spastic Ataxia 8 21
562 ERL041 Early-Onset Zonular Cataract 21
563 c JBR049 Joubert Syndrome 37 21
564 SPS087 Spasmus Nutans 20
565 c CRN242 Corneal Dystrophy, Fuchs Endothelial, 2 20
566 P STR111 Stromal Corneal Dystrophy 20
567 ORB019 Orbital Margin, Hypoplasia of 20
568 c LKD033 Leukodystrophy, Hypomyelinating, 20 20
569 c GLC089 Glaucoma 3, Primary Congenital, E 20
570 c MYP141 Myopia 5, Autosomal Dominant 20
571 DST044 Distal Trisomy 14q 20
572 c CRN218 Corneal Dystrophy, Fuchs Endothelial, 8 19
573 RTN170 Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 19
574 c ADL071 Adult Krabbe Disease 19
575 DST036 Distal Trisomy 15q 19
576 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 19
577 c ASP028 Asperger Syndrome, X-Linked 1 19
578 c ACT030 Acute Dacryoadenitis 19
579 BLT023 Bilateral Acute Depigmentation of the Iris 18
580 c NNN032 Non-Infectious Posterior Uveitis 18
581 P ACT070 Acute Inflammation of Lacrimal Passage 18
582 OPH014 Ophthalmomandibulomelic Dysplasia 18
583 CNG171 Congenital Plasminogen Deficiency 18
584 BRW005 Brawny Scleritis 18
585 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 18
586 c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 18
587 c CTR178 Cataract 27 18
588 MCR317 Macrophthalmia, Colobomatous, with Microcornea 18
589 c KRT053 Keratoconus 7 18
590 PLZ007 Pelizaeus-Merzbacher Disease, Classic Form 18
591 P MYP137 Myopia 1, X-Linked 18
592 RTC011 Reticular Dystrophy of Retinal Pigment Epithelium 18
593 c MCL032 Macular Degeneration, Age-Related, 11 18
594 BLP042 Blepharoptosis, Myopia, and Ectopia Lentis 17
595 MCR303 Macrosomia with Microphthalmia, Lethal 17
596 c TYS005 Tay-Sachs Disease, B1 Variant 17
597 c MCL065 Macular Degeneration, Age-Related, 15 17
598 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 17
599 c SPS028 Spastic Paraplegia 18 17
600 HYD049 Hydrocephalus with Cerebellar Agenesis 17
601 CNT088 Central Cloudy Dystrophy of Francois 17
602 c INF152 Infectious Posterior Uveitis 17
603 P CNG348 Congenital Sialidosis Type 2 17
604 c MYP040 Myopia 7 16
605 AMR007 Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis 16
606 PRS110 Persistent Placoid Maculopathy 16
607 c MCL026 Macular Dystrophy, Retinal, 3 16
608 c JVN036 Juvenile Sialidosis Type 2 16
609 c KRT040 Keratoconus 3 16
610 HRP038 Herpes Simplex Virus Stromal Keratitis 16
611 c KRT039 Keratoconus 2 15
612 PRG117 Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome 15
613 c LKD034 Leukodystrophy, Hypomyelinating, 21 15
614 c GLC076 Glaucoma 1, Open Angle, H 15
615 c CRN121 Corneal Dystrophy, Fuchs Endothelial, 5 15
616 CRN269 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 15
617 PTS017 Ptosis, Strabismus, and Ectopic Pupils 15
618 c MYP145 Myopia 16, Autosomal Dominant 15
619 c GLC052 Glaucoma 3, Primary Congenital, C 14
620 MNF001 Monofixation Syndrome 14
621 SPP006 Suppurative Uveitis 14
622 c KRT041 Keratoconus 4 14
623 c NNP008 Nanophthalmos 3 14
624 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
625 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 14
626 MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 14
627 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 14
628 ORB016 Orbital Varix 14
629 c MYP134 Myopia 13, X-Linked 14
630 P NNN030 Non-Infectious Anterior Uveitis 14
631 MNS013 Monosomy 13q34 14
632 c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 14
633 CRT080 Cortical Blindness, Retardation, and Postaxial Polydactyly 14
634 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 13
635 CNG400 Congenital Hereditary Endothelial Dystrophy Type I 13
636 XLN187 X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome 13
637 c CRN122 Corneal Dystrophy, Fuchs Endothelial, 7 13
638 c CTR025 Cataract, Total Congenital 13
639 TRP011 Triopia 13
640 PRP103 Peripapillary Staphyloma 13
641 ERL036 Early-Onset Posterior Subcapsular Cataract 12
642 RTN189 Retinal Capillary Malformation 12
643 CNG335 Congenital Ectropion Uveae 12
644 c MYP084 Myopia 20, Autosomal Dominant 12
645 c SPS033 Spastic Paraplegia 25 11
646 SCL005 Scleroperikeratitis 11
647 SYN124 Syndromic Inherited Retinal Disorder 11
648 c ALC031 Alacrima, Congenital, Autosomal Dominant 11
649 INT284 Intellectual Disability-Cataracts-Kyphosis Syndrome 10
650 c IDP048 Idiopathic Posterior Uveitis 10
651 P MCR048 Microcephaly Chorioretinopathy Recessive Form 10
652 HRD017 Hordeolum Externum 10
653 c PSD023 Pseudo-Gaucher Disease 10
654 ISL065 Isolated Congenital Alacrima 10
655 DBL001 Double Pterygium 10
656 FND005 Fundus Pulverulentus 9
657 c ALC032 Alacrima, Congenital, Autosomal Recessive 9
658 MLT117 Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 9
659 NYS018 Nystagmus, Voluntary 8
660 LNS002 Lens-Induced Iridocyclitis 8
661 TRS020 Tarsal Kink Syndrome 8
662 NBL002 Noble Bass Sherman Syndrome 8
663 SYN127 Syndromic Ectopia Lentis 8
664 EPS002 Episcleritis Periodica Fugax 7
665 c IDP066 Idiopathic Macular Telangiectasia Type 3 7
666 SYN150 Syndromic Cataract 7
667 c TXC018 Toxic Maculopathy Due to Antimalarial Drugs 6
668 OCL075 Oculocutaneous or Ocular Albinism 5
669 PHK010 Phakomatosis Spilorosea 5
670 SYN144 Syndromic Outer Canthal Malposition 5
671 CRN313 Corneodysgenesis 5
672 NLX006 Neu-Laxova Syndrome Due to 3-Phosphoglycerate Dehydrogenase Deficiency 5
673 SYN143 Syndromic Telecanthus 4
674 SYN128 Syndromic Macular Dystrophy 4
675 c SYS074 Systemic Diseases with Anterior Uveitis 4
676 c SYS076 Systemic Diseases with Posterior Uveitis 4
677 ISL126 Isolated Iridoschisis 4
678 SYN126 Syndromic Microspherophakia 4
679 MCR377 Microblepharon-Ablephara Syndrome 4
680 c OCL037 Oculodentodigital Dysplasia Dominant 4
681 c RRD050 Rare Disorder of the Pupil 4
682 IDP050 Idiopathic Linear Interstitial Keratitis 4
683 PDT047 Pediatric-Onset Glaucoma 4
684 LNS007 Lens Shape Anomaly 3
685 P LGB001 Leg Absence Deformity Cataract 3
686 SYN129 Syndromic Chorioretinal Dystrophy 3
687 ISL147 Isolated Stationary Inherited Retinal Disorder 3
688 INF183 Inflammatory/autoimmune Disorder Involving the Lacrimal System 3
689 CRN312 Craniofacial Anomaly with Cataract 3
690 DNT052 Dentocutaneous Disease with Cataract 3
691 SYN151 Syndromic Corneal Dystrophy 3
692 SYN153 Syndromic Hyperopia 3
693 CRN314 Craniostenosis with Strabismus 3
694 OCL009 Ocular Cancer 54
695 c SKN070 Skin/hair/eye Pigmentation, Variation in, 8 15
696 OCL022 Ocular Melanoma 54
697 P NRP066 Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy 42
698 OPT008 Optic Nerve Neoplasm 28
699 RTN015 Retinal Cancer 49
700 c NRP067 Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy 29
701 KPR002 Kapur-Toriello Syndrome 26
702 c NRP068 Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy 21
703 ECZ002 Eczema Herpeticum 45
704 BLT005 Bilateral Meningioma of Optic Nerve 13
705 FLT006 Floating-Harbor Syndrome 52
706 c ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 26
707 P INS002 in Situ Carcinoma 52
708 OPT007 Optic Nerve Glioma 41
709 c PRM023 Pre-Malignant Neoplasm 31
710 WYB002 Wyburn-Mason Syndrome 29
711 NRD073 Neurodevelopmental Disorder with Visual Defects and Brain Anomalies 23
712 MLG010 Malignant Eyelid Melanoma 9
713 c EYC001 Eye Carcinoma in Situ 7
714 P LYM118 Lymphoma 66
715 c LSS005 Lissencephaly 1 57
716 c LSS006 Lissencephaly 2 54
717 P LSS002 Lissencephaly 52
718 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 44
719 c LSS009 Lissencephaly 3 40
720 FST001 Foster-Kennedy Syndrome 39
721 c LSS010 Lissencephaly 4 38
722 P SKN067 Skin/hair/eye Pigmentation, Variation in, 2 30
723 c ADL001 Adult Lymphoma 29
724 c LSS025 Lissencephaly 5 28
725 c EYL003 Eye Lymphoma 27
726 c LSS035 Lissencephaly 8 25
727 RTN011 Retina Lymphoma 25
728 c LSS042 Lissencephaly 10 24
729 ICH079 Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features 18
730 WLF014 Wolfram Syndrome, Mitochondrial Form 18
731 c LSS044 Lissencephaly 6 10
732 c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58
733 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 32
734 c FBR050 Fibrosis of Extraocular Muscles, Congenital, 2 27
735 WBB001 Webb-Dattani Syndrome 23
736 NRD097 Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 21
737 NRD082 Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies 20
738 c FBR078 Fibrosis of Extraocular Muscles, Congenital, 5 18
739 P FBR081 Fibrosis of Extraocular Muscles, Congenital, 3c 16
740 SPN008 Spondyloepiphyseal Dysplasia Congenita 54
741 P FML023 Familial Hemiplegic Migraine 53
742 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 50
743 ATX019 Ataxia with Vitamin E Deficiency 44
744 HYD065 Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies 34
745 ATX047 Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation 15
746 LBR037 Leber Hereditary Optic Neuropathy with Demyelinating Disease of Cns 4
747 PTT046 Pituitary Hormone Deficiency, Combined, 2 62
748 TRN015 Transient Cerebral Ischemia 62
749 HMN009 Hemangioblastoma 53
750 TXC002 Toxic Encephalopathy 51
751 WRN002 Wernicke-Korsakoff Syndrome 49
752 RTN003 Retinal Ischemia 48
753 RTN020 Retinal Vascular Disease 45
754 P SPN202 Spinocerebellar Ataxia, X-Linked 1 41
755 MND025 Mandibulofacial Dysostosis with Alopecia 40
756 EXD009 Exudative Vitreoretinopathy 2, X-Linked 39
757 SWN003 Sweeney-Cox Syndrome 39
758 c KNN007 Kenny-Caffey Syndrome, Type 2 39
759 PST036 Posterior Column Ataxia with Retinitis Pigmentosa 38
760 c SPN363 Spinocerebellar Ataxia, X-Linked 4 36
761 P KNN002 Kenny-Caffey Syndrome 33
762 c SPN203 Spinocerebellar Ataxia, X-Linked 5 31
763 P BRN140 Brain Small Vessel Disease 2 30
764 KPP002 Keppen-Lubinsky Syndrome 30
765 c SPR083 Sporadic Hemiplegic Migraine 29
766 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 28
767 BRW006 Brown Syndrome 27
768 TXC008 Toxic Optic Neuropathy 27
769 c ATS009 Autosomal Genetic Disease 26
770 NRD099 Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity 24
771 CHR158 Charles Bonnet Syndrome 23
772 c BRN141 Brain Small Vessel Disease 3 23
773 MYC075 Myoclonus, Intractable, Neonatal 23
774 CLC058 Clcn2-Related Leukoencephalopathy 22
775 c SPN403 Spinocerebellar Ataxia, X-Linked 2 21
776 c CNR041 Cone-Rod Dystrophy and Hearing Loss 2 19
777 MTC217 Mitochondrial Complex Iv Deficiency, Nuclear Type 8 19
778 ABS003 Absence of Septum Pellucidum 18
779 TRN073 Trnt1 Deficiency 16
780 c SKN060 Skin/hair/eye Pigmentation, Variation in, 11 16
781 PST054 Postinfectious Encephalomyelitis 15
782 P ATP015 Atp1a3-Related Neurologic Disorders 13
783 MNT316 Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 12
784 RRR001 Rere-Related Disorders 12
785 c MCR373 Mecr-Related Neurologic Disorder 11
786 P OPT029 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 10
787 c CL4005 Col4a1-Related Brain Small-Vessel Disease 7
788 P RRG076 Rare Genetic Eye Disease 6
789 XRD002 Xeroderma of Eyelid 5
790 RRG048 Rare Genetic Disorder Involving Multiple Structures of the Eye 3
791 c RRG052 Rare Genetic Disorder of the Posterior Segment of the Eye 3
792 RRG062 Rare Genetic Eyelid Malposition Disorder 3
793 P PRK057 Parkinson Disease, Late-Onset 79
794 DWN001 Down Syndrome 70
795 BHC003 Behcet Syndrome 70
796 CNT097 Central Hypoventilation Syndrome, Congenital 70
797 P OST001 Osteopetrosis 70
798 P ALP004 Alport Syndrome 69
799 SMT004 Smith-Lemli-Opitz Syndrome 69
800 P HYP802 Hypocalcemia, Autosomal Dominant 1 68
801 P TRN020 Turner Syndrome 67
802 P DYS007 Dyskeratosis Congenita 66
803 P PRM002 Primary Hyperoxaluria 65
804 P MCK013 Meckel Syndrome, Type 1 64
805 c MCL013 Mucolipidosis Iv 64
806 P CFF008 Coffin-Siris Syndrome 1 63
807 SPT006 Septooptic Dysplasia 62
808 P STS008 Sotos Syndrome 1 62
809 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62
810 P ACH003 Achromatopsia 61
811 MSL001 Measles 61
812 CHN055 Chanarin-Dorfman Syndrome 61
813 P STR022 Stargardt Disease 61
814 NRM001 Neuromyelitis Optica 60
815 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 60
816 OST024 Osteoporosis-Pseudoglioma Syndrome 60
817 c WLF013 Wolfram Syndrome 1 60
818 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 59
819 PPL048 Papillorenal Syndrome 58
820 ENH001 Enhanced S-Cone Syndrome 58
821 c GLC097 Glaucoma 3, Primary Congenital, a 58
822 P SPN429 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 57
823 WLF002 Wolf-Hirschhorn Syndrome 57
824 P STR020 Strabismus 56
825 TRC096 Trichothiodystrophy 56
826 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56
827 FND001 Fundus Albipunctatus 56
828 SLP001 Sleeping Sickness 56
829 P ICH004 Ichthyosis 56
830 MRS002 Marshall Syndrome 55
831 P PLC011 Pilocytic Astrocytoma 55
832 BRN004 Brain Edema 54
833 c STR084 Stargardt Disease 1 54
834 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 54
835 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 54
836 P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53
837 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 53
838 DNR002 Duane-Radial Ray Syndrome 53
839 c CNR007 Cone-Rod Dystrophy 6 53
840 c MTC054 Mitochondrial Dna Depletion Syndrome 7 53
841 P END047 Endophthalmitis 53
842 MCR165 Microphthalmia with Limb Anomalies 53
843 c PNT034 Pontocerebellar Hypoplasia, Type 2e 53
844 TRC008 Trachoma 53
845 c SPN294 Spinocerebellar Ataxia 1 53
846 P DNR001 Duane Retraction Syndrome 53
847 OCL008 Oculopharyngeal Muscular Dystrophy 52
848 ATX049 Ataxia with Vitamin 3 Deficiency 52
849 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 52
850 OCL020 Ocular Cicatricial Pemphigoid 52
851 c LKD019 Leukodystrophy, Hypomyelinating, 6 52
852 c MCR113 Microvascular Complications of Diabetes 3 52
853 NVS001 Neovascular Glaucoma 52
854 FRY006 Fryns Microphthalmia Syndrome 52
855 c MTC063 Mitochondrial Dna Depletion Syndrome 3 51
856 LMB050 Limbal Stem Cell Deficiency 51
857 APR001 Apraxia 51
858 c CNG206 Congenital Disorder of Glycosylation, Type Ie 51
859 CTS003 Coats Disease 51
860 ALL009 Allergic Conjunctivitis 51
861 c MTC060 Mitochondrial Dna Depletion Syndrome 9 51
862 ICH054 Ichthyosis, X-Linked 51
863 c PRK085 Parkinson Disease 1, Autosomal Dominant 50
864 EXP004 Exophthalmos 50
865 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 50
866 c HRD173 Hereditary Late-Onset Parkinson Disease 50
867 c PRK093 Parkinson Disease 8, Autosomal Dominant 50
868 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
869 JCK001 Jackson-Weiss Syndrome 49
870 P FML362 Familial Isolated Hypoparathyroidism 49
871 P KRT007 Keratoconus 49
872 TRT020 Tritanopia 49
873 c MTC059 Mitochondrial Dna Depletion Syndrome 5 49
874 c MCK032 Meckel Syndrome, Type 3 49
875 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 49
876 c MTC061 Mitochondrial Dna Depletion Syndrome 1 49
877 c MCR263 Microphthalmia, Syndromic 1 49
878 P PNV001 Panuveitis 48
879 c SPN311 Spinocerebellar Ataxia 13 48
880 c LKD010 Leukodystrophy, Hypomyelinating, 2 48
881 c AXN009 Axenfeld-Rieger Syndrome, Type 1 48
882 c MTC058 Mitochondrial Dna Depletion Syndrome 6 48
883 P CHN074 Chondrodysplasia Punctata 2, X-Linked Dominant 48
884 c DSB006 Desbuquois Dysplasia 1 48
885 BLL004 Bullous Keratopathy 48
886 c CNG208 Congenital Disorder of Glycosylation, Type Iic 47
887 NRM019 Neuraminidase Deficiency 47
888 P SCL015 Scleritis 47
889 PRS012 Pars Planitis 47
890 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 47
891 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 47
892 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 47
893 P CRN028 Corneal Ulcer 47
894 c JBR014 Joubert Syndrome 9 46
895 c PNT036 Pontocerebellar Hypoplasia, Type 6 46
896 c GM2006 Gm2 Gangliosidosis 46
897 AST006 Astigmatism 46
898 P MTC010 Mitochondrial Dna Depletion Syndrome 46
899 RTN001 Retinal Vasculitis 46
900 c HRD026 Hereditary Ataxia 46
901 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 46
902 c OPT068 Optic Atrophy 3, Autosomal Dominant 46
903 c BRD033 Bardet-Biedl Syndrome 13 46
904 ACR012 Aicardi Syndrome 46
905 c LBR013 Leber Congenital Amaurosis 3 46
906 c HRM009 Hermansky-Pudlak Syndrome 6 46
907 c XLN229 X-Linked Chondrodysplasia Punctata 2 46
908 c PNT018 Pontocerebellar Hypoplasia, Type 1b 45
909 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 45
910 c DVL037 Developmental and Epileptic Encephalopathy 5 45
911 c JBR015 Joubert Syndrome 6 45
912 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 45
913 P PNT019 Pontocerebellar Hypoplasia 45
914 c JBR035 Joubert Syndrome 24 45
915 P VTR007 Vitreoretinopathy 45
916 c DVL118 Developmental and Epileptic Encephalopathy 94 45
917 c JBR013 Joubert Syndrome 8 45
918 c HRM012 Hermansky-Pudlak Syndrome 9 45
919 RTN021 Retinal Vascular Occlusion 45
920 c PRK052 Parkinson Disease 17 45
921 CTY001 Cat Eye Syndrome 45
922 JLL001 Jalili Syndrome 45
923 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 45
924 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 44
925 c PNT057 Pontocerebellar Hypoplasia, Type 1e 44
926 c USH039 Usher Syndrome, Type Ic 44
927 c MTC062 Mitochondrial Dna Depletion Syndrome 2 44
928 PLR023 Polr3-Related Leukodystrophy 44
929 c PRK065 Parkinson Disease 20, Early-Onset 44
930 c KNB006 Knobloch Syndrome 1 44
931 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43
932 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 43
933 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43
934 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 43
935 c PNT049 Pontocerebellar Hypoplasia, Type 2d 43
936 c CFF009 Coffin-Siris Syndrome 4 43
937 c MTC088 Mitochondrial Dna Depletion Syndrome 13 43
938 CRN049 Craniolenticulosutural Dysplasia 43
939 c CFF007 Coffin-Siris Syndrome 2 43
940 c JBR026 Joubert Syndrome 15 43
941 PRL047 Prolonged Electroretinal Response Suppression 43
942 c LKD015 Leukodystrophy, Hypomyelinating, 3 43
943 INF006 Infant Botulism 43
944 c LKD020 Leukodystrophy, Hypomyelinating, 10 42
945 c CFF010 Coffin-Siris Syndrome 3 42
946 c RTN042 Retinitis Pigmentosa 12 42
947 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 42
948 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
949 c PRK071 Parkinson Disease 14, Autosomal Recessive 42
950 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 42
951 c PNT044 Pontocerebellar Hypoplasia, Type 2a 42
952 NVL003 Nivelon-Nivelon-Mabille Syndrome 42
953 XRP001 Xerophthalmia 42
954 ORB013 Orbital Disease 42
955 c MCR114 Microphthalmia, Isolated 3 42
956 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 42
957 c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 42
958 PGM007 Pigmented Paravenous Chorioretinal Atrophy 42
959 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 42
960 PRK003 Parkes Weber Syndrome 41
961 c PNT039 Pontocerebellar Hypoplasia, Type 7 41
962 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 41
963 c PNT045 Pontocerebellar Hypoplasia, Type 1a 41
964 c RTN050 Retinitis Pigmentosa 20 41
965 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 41
966 CNC014 Cancer-Associated Retinopathy 41
967 c PNT043 Pontocerebellar Hypoplasia, Type 4 41
968 MKL001 Mikulicz Disease 41
969 P WRB001 Warburg Micro Syndrome 41
970 c PST022 Posterior Uveal Melanoma 41
971 P SPS008 Spastic Ataxia 41
972 CLR033 Color Vision Deficiency 41
973 c BRD048 Bardet-Biedl Syndrome 18 41
974 c PNT032 Pontocerebellar Hypoplasia, Type 9 41
975 c CND011 Cone Dystrophy 3 41
976 EYL005 Eyelid Disease 40
977 c CNR005 Cone-Rod Dystrophy 3 40
978 c DVL030 Developmental and Epileptic Encephalopathy 36 40
979 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 40
980 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
981 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 40
982 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 40
983 ENP001 Enophthalmos 40
984 BLD161 Blood Group, Globoside System 40
985 c LKD023 Leukodystrophy, Hypomyelinating, 12 40
986 c OPT024 Optic Atrophy 5 39
987 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 39
988 OLV004 Oliver-Mcfarlane Syndrome 39
989 c RTN142 Retinitis Pigmentosa 38 39
990 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
991 c NNN021 Noonan Syndrome 8 39
992 c LBR010 Leber Congenital Amaurosis 15 39
993 c SPN430 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 39
994 c SPN103 Spinocerebellar Ataxia 31 39
995 c CTR115 Cataract 16, Multiple Types 39
996 c ERL056 Early-Onset Parkinson's Disease 39
997 PRS025 Presbyopia 39
998 CHR211 Chromosome 18p Deletion Syndrome 38
999 c SPN105 Spinocerebellar Ataxia 4 38
1000 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 38
1001 c PRK090 Parkinson Disease 3, Autosomal Dominant 38
1002 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
1003 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 38
1004 c LBR011 Leber Congenital Amaurosis 16 38
1005 MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 38
1006 c HRM010 Hermansky-Pudlak Syndrome 7 38
1007 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 38
1008 ORB012 Orbital Cancer 38
1009 CLR133 Colorblindness, Partial, Protan Series 38
1010 TRP014 Triploidy 38
1011 c MCR109 Microphthalmia, Isolated 4 38
1012 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 38
1013 VBR001 Vibratory Urticaria 38
1014 ATX023 Ataxia, Sensory, 1, Autosomal Dominant 38
1015 c CRN236 Corneal Dystrophy, Lattice Type I 37
1016 P SCH017 Schindler Disease 37
1017 c PRK091 Parkinson Disease 4, Autosomal Dominant 37
1018 c MLG049 Malignant Syringoma 37
1019 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
1020 FCH002 Fuchs' Heterochromic Uveitis 37
1021 c SCH069 Schindler Disease, Type I 37
1022 ARC025 Arachnoid Cysts, Intracranial 37
1023 ISL011 Isolated Aniridia 37
1024 CHR079 Choroid Disease 37
1025 c 3MT007 3-Methylglutaconic Aciduria 37
1026 P RHM037 Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis 37
1027 c CNG192 Congenital Disorder of Glycosylation, Type Ik 37
1028 c RTN060 Retinitis Pigmentosa 31 37
1029 ISL062 Isolated Plagiocephaly 37
1030 P PRS013 Prosopagnosia 37
1031 c SPN419 Spinocerebellar Ataxia 45 36
1032 c PRK070 Parkinson Disease 21 36
1033 GRN055 Granular Corneal Dystrophy 36
1034 c DYS172 Dystonia 27 36
1035 c LKD021 Leukodystrophy, Hypomyelinating, 11 36
1036 c 3MT019 3-Methylglutaconic Aciduria, Type Iv 36
1037 P SYR003 Syringoma 36
1038 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 36
1039 c DVL061 Developmental and Epileptic Encephalopathy 34 36
1040 BRN041 Bornholm Eye Disease 36
1041 c CFF011 Coffin-Siris Syndrome 6 36
1042 c PRX055 Peroxisome Biogenesis Disorder 11a 36
1043 c LKD008 Leukodystrophy, Hypomyelinating, 4 36
1044 CRB215 Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay 36
1045 XRD026 Xeroderma Pigmentosum-Cockayne Syndrome Complex 35
1046 c XLN227 X-Linked Chondrodysplasia Punctata 1 35
1047 FRS019 Farsightedness 35
1048 P HYP700 Hypomyelinating Leukodystrophy 35
1049 c KNN009 Kenny-Caffey Syndrome, Type 1 35
1050 c CTR111 Cataract 36 35
1051 c NGH021 Night Blindness, Congenital Stationary, Autosomal Dominant 1 35
1052 c LKD016 Leukodystrophy, Hypomyelinating, 9 35
1053 CYC001 Cycloplegia 35
1054 c JVN009 Juvenile Pilocytic Astrocytoma 34
1055 CRB159 Cerebral Visual Impairment 34
1056 WGN007 Wagner Vitreoretinopathy 34
1057 c WLL037 Weill-Marchesani Syndrome 2 34
1058 PST063 Postsynaptic Congenital Myasthenic Syndromes 34
1059 c MYS064 Myasthenic Syndrome, Congenital, 16 34
1060 PNC059 Punctate Inner Choroidopathy 34
1061 c RTN152 Retinitis Pigmentosa 66 34
1062 c DYS145 Dystonia 23 33
1063 EXC003 Excessive Tearing 33
1064 c HNT011 Huntington Disease-Like 3 33
1065 c PRK025 Parkinson Disease 10 33
1066 CRN022 Corneal Degeneration 33
1067 c PHL010 Peho-Like Syndrome 33
1068 c PRX060 Peroxisome Biogenesis Disorder 5a 33
1069 c MCR329 Microcephaly, Autosomal Dominant 33
1070 c RTN136 Retinitis Pigmentosa 44 33
1071 c SPN383 Spinocerebellar Ataxia 42 33
1072 c ADM007 Adams-Oliver Syndrome 2 33
1073 c CFF014 Coffin-Siris Syndrome 9 33
1074 c OPT065 Optic Atrophy 9 33
1075 c GLC083 Glaucoma 3, Primary Infantile, B 33
1076 LKC002 Leukocoria 33
1077 CLS047 Classic Progressive Supranuclear Palsy Syndrome 33
1078 MRN002 Mooren's Ulcer 33
1079 c RTN057 Retinitis Pigmentosa 29 33
1080 c PRX054 Peroxisome Biogenesis Disorder 12a 33
1081 c CHN028 Chondrodysplasia Punctata 1, X-Linked Recessive 32
1082 c DVL057 Developmental and Epileptic Encephalopathy 31 32
1083 c SPS036 Spastic Paraplegia 3 32
1084 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 32
1085 DFN256 Deafness and Myopia 32
1086 c SHR032 Short Qt Syndrome 2 32
1087 c ATP003 Atp6v0a2-Related Cutis Laxa 32
1088 CYS045 Cystinosis, Adult Nonnephropathic 32
1089 c RTN035 Retinal Cone Dystrophy 3b 32
1090 c NNN024 Noonan Syndrome 9 32
1091 c RTN169 Retinitis Pigmentosa 70 32
1092 CRN238 Corneal Dystrophy, Epithelial Basement Membrane 32
1093 P LTT001 Lattice Corneal Dystrophy 32
1094 c SPS212 Spastic Ataxia 5, Autosomal Recessive 31
1095 c KRT029 Keratoconus 1 31
1096 c ACQ001 Acquired Color Blindness 31
1097 SPR034 Superior Limbic Keratoconjunctivitis 31
1098 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 31
1099 TTR014 Tetrasomy 18p 31
1100 c DSB005 Desbuquois Dysplasia 2 31
1101 c MTC126 Mitochondrial Dna Depletion Syndrome 14 31
1102 RTN212 Retinal Dystrophy with or Without Macular Staphyloma 31
1103 CLR132 Colorblindness, Partial, Deutan Series 31
1104 DGN002 Degenerative Myopia 31
1105 MCP039 Mucoepithelial Dysplasia, Hereditary 31
1106 c RTN178 Retinitis Pigmentosa 72 31
1107 c DVL053 Developmental and Epileptic Encephalopathy 27 31
1108 P INT006 Intestinal Botulism 31
1109 c DVL090 Developmental and Epileptic Encephalopathy 66 30
1110 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 30
1111 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 30
1112 P VTR008 Vitreoretinal Degeneration 30
1113 c GLC100 Glaucoma 1, Open Angle, D 30
1114 P CRN249 Cornea Plana 30
1115 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 30
1116 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 30
1117 FBR094 Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement 29
1118 LGH017 Leigh Syndrome with Nephrotic Syndrome 29
1119 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 29
1120 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 29
1121 DGN003 Degeneration of Macula and Posterior Pole 29
1122 PRP026 Peripheral Retinal Degeneration 29
1123 c MYP018 Myopia 6 29
1124 c DVL063 Developmental and Epileptic Encephalopathy 37 29
1125 c PNT051 Pontocerebellar Hypoplasia, Type 1d 29
1126 c PNT050 Pontocerebellar Hypoplasia, Type 11 29
1127 c PNT046 Pontocerebellar Hypoplasia, Type 5 29
1128 NDL008 Nodular Episcleritis 29
1129 c SNR006 Senior-Loken Syndrome 6 29
1130 GNT004 Gnathomiasis 28
1131 c BRD050 Bardet-Biedl Syndrome 21 28
1132 NCL001 Nuclear Senile Cataract 28
1133 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 28
1134 c CHR088 Chronic Inflammation of Lacrimal Passage 28
1135 c PRX091 Peroxisome Biogenesis Disorder 8a 28
1136 c SPS208 Spastic Ataxia 4, Autosomal Recessive 28
1137 SNJ002 Snijders Blok-Campeau Syndrome 28
1138 PRL014 Paralytic Squint 28
1139 c PRK081 Parkinson Disease 19a, Juvenile-Onset 28
1140 CHR077 Chorioretinal Scar 28
1141 STC017 Stickler Syndrome, Type I, Nonsyndromic Ocular 28
1142 NRD080 Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities 28
1143 c SNR015 Senior-Loken Syndrome 8 28
1144 c DVL094 Developmental and Epileptic Encephalopathy 70 28
1145 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 27
1146 c JBR039 Joubert Syndrome 28 27
1147 c DVL099 Developmental and Epileptic Encephalopathy 75 27
1148 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
1149 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 27
1150 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
1151 c SPS072 Spastic Ataxia 1, Autosomal Dominant 27
1152 c DVL088 Developmental and Epileptic Encephalopathy 64 27
1153 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 27
1154 c DVL076 Developmental and Epileptic Encephalopathy 52 27
1155 c SPS136 Spastic Ataxia 3, Autosomal Recessive 27
1156 c SNR007 Senior-Loken Syndrome 7 26
1157 c DVL047 Developmental and Epileptic Encephalopathy 19 26
1158 HYP048 Hypotropia 26
1159 c CFF012 Coffin-Siris Syndrome 7 26
1160 c DVL072 Developmental and Epileptic Encephalopathy 47 26
1161 ISL089 Isolated Scaphocephaly 26
1162 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
1163 c JVN058 Juvenile-Onset Parkinson's Disease 26
1164 c CNG617 Congenital Disorder of Glycosylation, Type Iit 26
1165 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 26
1166 MRN005 Marie Unna Congenital Hypotrichosis 26
1167 CRL001 Cerulean Cataract 26
1168 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 26
1169 c SPN372 Spinocerebellar Ataxia 43 26
1170 c GLL042 Galloway-Mowat Syndrome 5 26
1171 c PRK083 Parkinson Disease 22, Autosomal Dominant 26
1172 c DVL080 Developmental and Epileptic Encephalopathy 56 26
1173 NCR009 Necrobiotic Xanthogranuloma 26
1174 c ANR047 Aniridia 2 26
1175 c PNT053 Pontocerebellar Hypoplasia, Type 13 26
1176 c SYN073 Syngap1-Related Intellectual Disability 26
1177 BKR002 Baker-Gordon Syndrome 25
1178 c DVL092 Developmental and Epileptic Encephalopathy 68 25
1179 c DVL074 Developmental and Epileptic Encephalopathy 49 25
1180 c PRK098 Parkinson Disease 5, Autosomal Dominant 25
1181 c LKD030 Leukodystrophy, Hypomyelinating, 17 25
1182 c PRK094 Parkinson Disease 11, Autosomal Dominant 25
1183 c RTN116 Retinitis Pigmentosa 56 25
1184 OLG014 Oligocone Trichromacy 25
1185 c LKD031 Leukodystrophy, Hypomyelinating, 18 25
1186 c MCR219 Microphthalmia, Isolated 8 25
1187 c DVL109 Developmental and Epileptic Encephalopathy 87 25
1188 c ANT067 Anterior Segment Dysgenesis 8 25
1189 c CFF006 Coffin-Siris Syndrome 5 25
1190 c CFF013 Coffin-Siris Syndrome 8 25
1191 c PRK099 Parkinson Disease 18, Autosomal Dominant 25
1192 c CHR449 Choroidal Dystrophy, Central Areolar 2 25
1193 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 25
1194 c MCK028 Meckel Syndrome 13 25
1195 c MCR272 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 25
1196 c DVL086 Developmental and Epileptic Encephalopathy 62 25
1197 c SPN432 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 25
1198 c GLC054 Glaucoma 3, Primary Congenital, D 25
1199 c MTC182 Mitochondrial Dna Depletion Syndrome 16 25
1200 MLN046 Melanoma-Associated Retinopathy 25
1201 c MCK036 Meckel Syndrome, Type 9 25
1202 JBR046 Jaberi-Elahi Syndrome 25
1203 c USH011 Usher Syndrome, Type 2b 25
1204 c DVL084 Developmental and Epileptic Encephalopathy 60 24
1205 c WLL038 Weill-Marchesani Syndrome 3 24
1206 DRM043 Dermochondrocorneal Dystrophy 24
1207 c DVL104 Developmental and Epileptic Encephalopathy 81 24
1208 c HRM020 Hermansky-Pudlak Syndrome 10 24
1209 c LKD027 Leukodystrophy, Hypomyelinating, 14 24
1210 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 24
1211 ORB003 Orbital Tenonitis 24
1212 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
1213 c SNR005 Senior-Loken Syndrome 5 24
1214 c LKD022 Leukodystrophy, Hypomyelinating, 13 24
1215 c RTN230 Retinitis Pigmentosa 88 24
1216 c DVL098 Developmental and Epileptic Encephalopathy 74 24
1217 c DVL105 Developmental and Epileptic Encephalopathy 82 24
1218 HRD019 Hereditary Choroidal Atrophy 24
1219 c NYS012 Nystagmus 5, Congenital, X-Linked 24
1220 MCR220 Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 24
1221 c DVL095 Developmental and Epileptic Encephalopathy 71 24
1222 c CNR032 Cone-Rod Dystrophy 21 23
1223 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 23
1224 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
1225 c NNN029 Noonan Syndrome 11 23
1226 P ACT077 Acute Orbital Inflammation 23
1227 CNG005 Congenital Aphakia 23
1228 P NBS002 Nabais Sa-De Vries Syndrome, Type 2 23
1229 c JBR047 Joubert Syndrome 35 23
1230 c RTN051 Retinitis Pigmentosa 22 23
1231 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 23
1232 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 23
1233 HYP213 Hypomelanotic Disorder 23
1234 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 23
1235 ANK013 Ankyloblepharon Filiforme Adnatum and Cleft Palate 23
1236 SHR065 Short Stature with Microcephaly and Distinctive Facies 23
1237 c DVL096 Developmental and Epileptic Encephalopathy 72 23
1238 c PRK096 Parkinson Disease 13, Autosomal Dominant 23
1239 EPL011 Epilepsy, Benign Occipital 22
1240 HYP047 Hypertropia 22
1241 c ANT087 Anterior Segment Dysgenesis 6 22
1242 8P2002 8p23.1 Duplication Syndrome 22
1243 c CFF015 Coffin-Siris Syndrome 10 22
1244 MCD002 Mcdonough Syndrome 22
1245 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 22
1246 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
1247 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 22
1248 c DYS138 Dystonia 21 22
1249 c CFF016 Coffin-Siris Syndrome 11 22
1250 c CHR093 Chronic Orbital Inflammation 22
1251 SRP002 Serpiginous Choroiditis 22
1252 c SPS038 Spastic Paraplegia 39 22
1253 c LKD029 Leukodystrophy, Hypomyelinating, 16 22
1254 CMB069 Combined Hamartoma of the Retina and Retinal Pigment Epithelium 22
1255 ATX037 Ataxia-Deafness-Retardation Syndrome 22
1256 PRL018 Purulent Endophthalmitis 22
1257 CNG357 Congenital Symblepharon 22
1258 c RTN227 Retinitis Pigmentosa 86 22
1259 CYC003 Cyclotropia 22
1260 c CHR059 Chronic Endophthalmitis 21
1261 CTR027 Cataract-Glaucoma 21
1262 c PNT052 Pontocerebellar Hypoplasia, Type 12 21
1263 ATS012 Autosomal Dominant Partial Epilepsy with Auditory Features 21
1264 SHK001 Shaken Baby Syndrome 21
1265 c MTC204 Mitochondrial Dna Depletion Syndrome 18 21
1266 c DVL110 Developmental and Epileptic Encephalopathy 88 21
1267 SYN149 Syndromic Rod-Cone Dystrophy 21
1268 VSL004 Visual Cortex Disease 21
1269 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
1270 PHK008 Phakomatosis Cesioflammea 21
1271 PLL009 Pellucid Marginal Degeneration 21
1272 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 21
1273 CHR241 Chromosome 2q24 Microdeletion Syndrome 21
1274 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 21
1275 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 21
1276 c ADL084 Adult-Onset Myasthenia Gravis 21
1277 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 21
1278 SYN120 Syndromic Oculocutaneous Albinism 21
1279 c MYP146 Myopia 15, Autosomal Dominant 21
1280 c HRN024 Horner Syndrome, Congenital 20
1281 c VCN001 Vcan-Related Vitreoretinopathy 20
1282 MTC181 Mitochondrial Dna-Related Progressive External Ophthalmoplegia 20
1283 c SPS163 Spastic Ataxia 3 20
1284 c NBS001 Nabais Sa-De Vries Syndrome, Type 1 20
1285 c CTR144 Cataract 43 20
1286 c MYP070 Myopia 21, Autosomal Dominant 20
1287 P PTT054 Patterned Macular Dystrophy 20
1288 c RTN214 Retinitis Pigmentosa 81 20
1289 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
1290 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 20
1291 c HYP573 Hypotrichosis 5 20
1292 PRD026 Pre-Descemet Corneal Dystrophy 20
1293 c CTR139 Cataract 42 20
1294 c MNS011 Monosomy 9q22.3 20
1295 c MYP074 Myopia 23, Autosomal Recessive 20
1296 OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 20
1297 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 20
1298 RTN037 Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma 19
1299 AMB007 Amoebic Keratitis 19
1300 c LKD032 Leukodystrophy, Hypomyelinating, 19, Transient Infantile 19
1301 GNT023 Gnathostoma Infection 19
1302 c CRN279 Cornea Plana 1, Autosomal Dominant 19
1303 OCL043 Oculorenocerebellar Syndrome 19
1304 MYP060 Myopic Macular Degeneration 19
1305 c SPS191 Spastic Ataxia 7, Autosomal Dominant 19
1306 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 19
1307 c MYP090 Myopia 24, Autosomal Dominant 19
1308 CRM007 Crome Syndrome 19
1309 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 19
1310 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 19
1311 P ASP029 Asperger Syndrome, X-Linked 2 19
1312 RTN185 Retinal Dysplasia, Primary 19
1313 c CTR128 Cataract 33 19
1314 c MYP117 Myopia 25, Autosomal Dominant 19
1315 APP006 Apperceptive Agnosia 19
1316 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 19
1317 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 19
1318 c GLC101 Glaucoma 1, Open Angle, B 19
1319 P NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 19
1320 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 19
1321 c PRK058 Parkinson Disease 16 18
1322 VSL012 Visual Snow Syndrome 18
1323 c SPS170 Spastic Ataxia 2 18
1324 c ERY068 Erythrokeratodermia Variabilis Et Progressiva 6 18
1325 c MYP044 Myopia 10 18
1326 PHC015 Phacoanaphylactic Uveitis 18
1327 c MYP075 Myopia 22, Autosomal Dominant 18
1328 OCL057 Oculotrichodysplasia 18
1329 c NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1330 MCL029 Macular Degeneration, X-Linked Atrophic 18
1331 HRS003 Hirschsprung Disease Ganglioneuroblastoma 18
1332 IDP047 Idiopathic Panuveitis 18
1333 c GLC051 Glaucoma 1, Open Angle, M 18
1334 c TRN062 Transient Neonatal Myasthenia Gravis 18
1335 DRM015 Dermoids of Cornea 17
1336 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 17
1337 c DVL032 Developmental and Epileptic Encephalopathy 90 17
1338 INT008 Intermittent Squint 17
1339 c PRK022 Parkinson Disease 12 17
1340 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 17
1341 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 17
1342 c KRT050 Keratoconus 5 17
1343 c KRT052 Keratoconus 6 17
1344 MLN018 Moloney Syndrome 17
1345 CLB018 Coloboma of Eyelid 17
1346 c MTC014 Mitochondrial Dna Deletion Syndromes 16
1347 ACR078 Acral Self-Healing Collodion Baby 16
1348 ACT235 Acute Macular Neuroretinopathy 16
1349 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 16
1350 c KRT054 Keratoconus 8 16
1351 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 16
1352 ERL040 Early-Onset Sutural Cataract 16
1353 c ERY072 Erythrokeratodermia Variabilis Et Progressiva 7 16
1354 ESS005 Essential Iris Atrophy 16
1355 c CNG596 Congenital Ectropion 16
1356 c PNT055 Pontocerebellar Hypoplasia, Type 14 16
1357 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 16
1358 CLB008 Coloboma of Eye Lens 16
1359 c MYP147 Myopia 19, Autosomal Dominant 16
1360 CLM004 Climatic Droplet Keratopathy 16
1361 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
1362 MCR078 Microphthalmia Microtia Fetal Akinesia 16
1363 CNG362 Congenital Trochlear Nerve Palsy 16
1364 ERL037 Early-Onset Lamellar Cataract 16
1365 OST058 Osteopoikilosis and Dacryocystitis 16
1366 c CHR035 Chronic Dacryoadenitis 15
1367 DST082 Distal Trisomy 10q 15
1368 c GLC048 Glaucoma 1, Open Angle, I 15
1369 c CLC009 Clcn7-Related Osteopetrosis 15
1370 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 15
1371 c MCR282 Microcephaly and Chorioretinopathy 1 15
1372 IDP043 Idiopathic Uveal Effusion Syndrome 15
1373 BNC002 Binocular Vision Disease 15
1374 PRG115 Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome 15
1375 CNG457 Congenital Oculomotor Nerve Palsy 14
1376 c BCL018 Bcl11a-Related Intellectual Disability 14
1377 c PNT058 Pontocerebellar Hypoplasia, Type 1f 14
1378 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 14
1379 c LTN017 Late-Infantile/juvenile Krabbe Disease 14
1380 c PNT056 Pontocerebellar Hypoplasia, Type 15 14
1381 10Q004 10q26 Deletion Syndrome 14
1382 ATS495 Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form 14
1383 c CSK002 Cask-Related Intellectual Disability 14
1384 VSC048 Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome 14
1385 INT176 Intraocular Medulloepithelioma 14
1386 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1387 ISL128 Isolated Microspherophakia 13
1388 PLZ008 Pelizaeus-Merzbacher Disease, Transitional Form 13
1389 ETH013 Euthyroid Graves Orbitopathy 13
1390 INF184 Infective Keratitis 13
1391 SYN112 Syndromic Microphthalmia-Anophthalmia-Coloboma 13
1392 ORB018 Orbital Leiomyoma 13
1393 c CCH011 Coach Syndrome 3 13
1394 CLB032 Coloboma of Macula and Skeletal Anomalies 13
1395 c VPS003 Vps35-Related Parkinson Disease 13
1396 CTR153 Cataract-Deafness-Hypogonadism Syndrome 13
1397 c INF151 Infectious Panuveitis 13
1398 PLZ009 Pelizaeus-Merzbacher Disease in Female Carriers 13
1399 c MLN039 Melanoma, Uveal 1 13
1400 PSD101 Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa 12
1401 ISL131 Isolated Foveal Hypoplasia 12
1402 FLC004 Fleck Retina of Kandori 12
1403 c MLN041 Melanoma, Uveal 2 12
1404 ANR041 Aniridia-Intellectual Disability Syndrome 12
1405 CLF040 Cleft Lip-Retinopathy Syndrome 12
1406 P RRN017 Rare Intellectual Disability 12
1407 c ADL101 Adult-Onset Steinert Myotonic Dystrophy 12
1408 c SYR009 Syringomas, Multiple 12
1409 TXN001 Toxin-Mediated Infectious Botulism 12
1410 c SCL053 Sclerocornea, Autosomal Dominant 11
1411 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 11
1412 SPR147 Superficial Corneal Dystrophy 11
1413 RCR030 Recurrent Idiopathic Neuroretinitis 11
1414 P RRT024 Rare Ataxia 11
1415 P CNG595 Congenital Alacrima 11
1416 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 11
1417 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 10
1418 c TRR002 Trio-Related Intellectual Disability 10
1419 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 10
1420 ACT168 Acute Annular Outer Retinopathy 10
1421 c WCR002 Wac-Related Intellectual Disability 10
1422 TRR003 Terrien Marginal Degeneration 10
1423 CNG458 Congenital Abducens Nerve Palsy 10
1424 c WDR002 Wdr26-Related Intellectual Disability 10
1425 c SPS162 Spastic Ataxia 1 10
1426 c HVP001 Hivep2-Related Intellectual Disability 10
1427 c ATS403 Autosomal Dominant Intellectual Disability 40 10
1428 c ATS437 Autosomal Dominant Spastic Ataxia 9
1429 INV017 Inverse Marcus-Gunn Phenomenon 9
1430 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 9
1431 c RRH004 Rare Hereditary Ataxia 9
1432 c ACQ056 Acquired Ataxia 9
1433 c RRC027 Rare Corneal Disorder 8
1434 EXT057 Extensive Peripapillary Myelinated Nerve Fibers 8
1435 c ATS360 Autosomal Recessive Intellectual Disability 58 8
1436 c GLC032 Glaucoma, Hereditary 8
1437 P VRC007 Varicella, Severe Recurrent 8
1438 c PPP001 Ppp2r5d-Related Intellectual Disability 8
1439 NRP069 Neuro-Ophthalmological Disease 8
1440 c SPS040 Spastic Paraplegia 5b 7
1441 MCP028 Mucopolysaccharidosis Type 6, Slowly Progressing 7
1442 PRG012 Progressive Peripheral Pterygium 7
1443 INF115 Infectious Epithelial Keratitis 7
1444 P DSR041 Disorder of Multiple Glycosylation 7
1445 c ATS439 Autosomal Ichthyosis Syndrome 7
1446 ODN003 O Donnell Pappas Syndrome 7
1447 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 7
1448 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 7
1449 CNG355 Congenital Eyelid Retraction 7
1450 RRD062 Rare Disorder with Lens Opacification 7
1451 LYM055 Lyme Disease - Neurological Complications 6
1452 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
1453 c SPS172 Spastic Ataxia 7 6
1454 CNJ008 Conjunctival Concretion 6
1455 c MCR283 Microcephaly and Chorioretinopathy 2 6
1456 GRY003 Grayson-Wilbrandt Corneal Dystrophy 6
1457 ECS003 Eec Syndrome and Related Disorders 6
1458 c SCN004 Secondary Vitreoretinal Degeneration 6
1459 SYN148 Syndromic Aniridia 5
1460 SYN152 Syndromic Keratoconus 5
1461 c ATS348 Autosomal Dominant Intellectual Disability 30 5
1462 c PRM303 Primary Early-Onset Glaucoma 5
1463 c SCN083 Secondary Early-Onset Glaucoma 5
1464 c MCR284 Microcephaly and Chorioretinopathy 3 5
1465 C12001 C12orf65-Related Combined Oxidative Phosphorylation Defect 5
1466 CNG533 Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome 5
1467 ACT252 Acute Disseminated Encephalomyelitis with Anti-Mog Antibodies 5
1468 c RRD060 Rare Disorder of the Lacrimal Apparatus 5
1469 c TTL014 Total Autosomal Monosomy 5
1470 NLX005 Neu-Laxova Syndrome Due to Phosphoserine Aminotransferase Deficiency 5
1471 SPR148 Supranuclear Eye Movement Disorder 5
1472 SCR032 Scarring in Glaucoma Filtration Surgical Procedures 4
1473 RRP026 Rare Palpebral Disorder 4
1474 CNG597 Congenital Malformation of the Eyelid 4
1475 ISL130 Isolated Congenital Entropion 4
1476 ISL071 Isolated Congenital Ectropion 4
1477 RRD059 Rare Disorder with Conjunctival Involvement As a Major Feature 4
1478 SYN147 Syndromic Ankyloblepharon Filiforme Adnatum 4
1479 c RRL005 Rare Lens Disease 4
1480 RRR012 Rare Refraction Anomaly 4
1481 c RRD064 Rare Disorder with Strabismus 4
1482 c DDX001 Ddx3x-Related Intellectual Disability 4
1483 c GLC029 Glaucoma Type 1c 4
1484 c GLC033 Glaucoma, Hereditary Adult Type 1a 4
1485 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 4
1486 c GLC035 Glaucoma, Primary Infantile Type 3a 4
1487 c FRG004 Fragile X Syndrome Type 1 4
1488 c SYS075 Systemic Diseases with Panuveitis 4
1489 c RRN016 Rare Inflammatory/autoimmune Corneal Disorder 4
1490 c MCR059 Microcephaly with Chorioretinopathy, Autosomal Dominant Form 4
1491 PRN060 Paraneoplastic Uveitis 4
1492 P RRD036 Rare Idiopathic Macular Telangiectasia 4
1493 SYN125 Syndromic Vitreoretinopathy 4
1494 EYL007 Eyelid Border Anomaly 4
1495 SYN154 Syndromic Disorder with Strabismus 4
1496 ISL127 Isolated Blepharochalasis 3
1497 RRC024 Rare Ocular Motility/alignment Disorder 3
1498 RRC025 Rare Choroidal Disorder 3
1499 SYN130 Syndromic Lacrimal System Disorder 3
1500 ANT090 Anterior Segment Developmental Abnormality with Extraocular Manifestations 3
1501 SYN145 Syndromic Epicanthus 3
1502 RNL124 Renal Disease with Cataract 3
1503 RRD063 Rare Disease with Glaucoma As a Major Feature 3
1504 ANT094 Anterior Segment Developmental Anomaly Without Extraocular Manifestations 3
1505 c ISL143 Isolated Progressive Inherited Retinal Disorder 3
1506 ISL144 Isolated Vitreoretinopathy 3
1507 ISL146 Isolated Chorioretinal Dystrophy 3
1508 P ISL148 Isolated Inherited Retinal Disorder 3
1509 CHR694 Chromosomal Anomaly with Cataract 3
1510 NSC005 Nescav Syndrome 40
1511 KNS001 Kniest Dysplasia 50
1512 NRD057 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 31
1513 PHC018 Phace Association 37
1514 ONC002 Onchocerciasis 50
1515 BLL003 Bell's Palsy 48
1516 P MLN008 Melanoma 75
1517 c PRD013 Periodic Fever, Familial, Autosomal Dominant 67
1518 PBL005 Piebald Trait 60
1519 P CNT005 Central Nervous System Lymphoma 51
1520 c PRM226 Primary Central Nervous System Lymphoma 47
1521 c HRD223 Hereditary Melanoma 38
1522 MYP086 Myopathy with Extrapyramidal Signs 38
1523 FLP001 Filippi Syndrome 37
1524 P STR001 Striatonigral Degeneration 37
1525 c STR085 Striatonigral Degeneration, Infantile 34
1526 P HRD214 Hereditary Periodic Fever Syndrome 31
1527 DWR021 Dwarfism, Mental Retardation, and Eye Abnormality 12
1528 IMM028 Immune-Mediated Encephalomyelitis 10
1529 RTN010 Retinal Melanoma 9
1530 c NRF024 Neurofibromatosis, Type I 76
1531 VNH007 Von Hippel-Lindau Syndrome 72
1532 P ATS364 Autism 72
1533 c ATS007 Autism Spectrum Disorder 71
1534 P SRC025 Sarcoidosis 1 70
1535 c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70
1536 CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70
1537 P SZR006 Seizure Disorder 69
1538 P TYS001 Tay-Sachs Disease 69
1539 P SPR120 Supranuclear Palsy, Progressive, 1 68
1540 c MCP052 Mucopolysaccharidosis, Type Vi 67
1541 LBR036 Leber Plus Disease 67
1542 P RTH006 Rothmund-Thomson Syndrome, Type 2 67
1543 HRL003 Hurler Syndrome 66
1544 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66
1545 c ATS013 Autosomal Recessive Congenital Ichthyosis 66
1546 CNC002 Cinca Syndrome 65
1547 P LYS001 Loeys-Dietz Syndrome 65
1548 ALS001 Alstrom Syndrome 65
1549 P CTS001 Cutis Laxa 64
1550 CRZ001 Crouzon Syndrome 64
1551 P DYS154 Dystonia 64
1552 GRG001 Greig Cephalopolysyndactyly Syndrome 64
1553 FCL009 Focal Dermal Hypoplasia 63
1554 INT323 Intraocular Pressure Quantitative Trait Locus 63
1555 c NMN013 Niemann-Pick Disease, Type a 63
1556 P DNT020 Dent Disease 1 63
1557 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 63
1558 c HYP794 Hyperoxaluria, Primary, Type I 63
1559 c OPT053 Optic Atrophy 1 62
1560 c MCL046 Mucolipidosis Iii Alpha/beta 61
1561 P WLF004 Wolfram Syndrome 61
1562 c GLC092 Glaucoma, Primary Open Angle 60
1563 WLL001 Williams-Beuren Syndrome 60
1564 RTN017 Retinal Detachment 60
1565 c USH036 Usher Syndrome, Type I 60
1566 P MCR010 Microcephaly 59
1567 CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58
1568 HRL004 Hurler-Scheie Syndrome 58
1569 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58
1570 c ALB021 Albinism, Oculocutaneous, Type Ii 58
1571 P RBL001 Rubella 58
1572 c SPN309 Spinocerebellar Ataxia 6 58
1573 GYR004 Gyrate Atrophy of Choroid and Retina 58
1574 P OPT009 Optic Neuritis 57
1575 P OPT006 Optic Nerve Disease 57
1576 c CCK007 Cockayne Syndrome B 56
1577 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 56
1578 P CNG010 Congenital Stationary Night Blindness 56
1579 c MCR241 Microphthalmia, Syndromic 3 56
1580 KFM001 Kaufman Oculocerebrofacial Syndrome 55
1581 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 55
1582 P WLL002 Weill-Marchesani Syndrome 55
1583 P NRC002 Narcolepsy 55
1584 c ORF034 Orofaciodigital Syndrome Vi 55
1585 PTS001 Patau Syndrome 55
1586 GLC012 Galactosialidosis 55
1587 P NLX004 Neu-Laxova Syndrome 1 55
1588 c HNT010 Huntington Disease-Like 1 54
1589 KRT002 Keratomalacia 54
1590 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 54
1591 P PSD015 Pseudohypoparathyroidism 54
1592 PPL025 Popliteal Pterygium Syndrome 54
1593 IRD001 Iridocyclitis 54
1594 c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 54
1595 c MYS051 Myasthenic Syndrome, Congenital, 5 53
1596 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 53
1597 KRT006 Keratoconjunctivitis 53
1598 SJG002 Sjogren-Larsson Syndrome 53
1599 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 53
1600 P CRB101 Cerebrooculofacioskeletal Syndrome 1 53
1601 c JBR018 Joubert Syndrome 4 53
1602 P RTN018 Retinal Disease 53
1603 c CTS045 Cutis Laxa, Autosomal Dominant 1 52
1604 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
1605 c OST131 Osteopetrosis, Autosomal Dominant 2 52
1606 c GRS014 Griscelli Syndrome, Type 2 52
1607 P NNN037 Noonan Syndrome-Like Disorder with Loose Anagen Hair 51
1608 c USH035 Usher Syndrome Type 2 51
1609 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 51
1610 P CNG436 Congenital Disorder of Deglycosylation 51
1611 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 51
1612 TRC010 Trichotillomania 51
1613 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 50
1614 CHR078 Chorioretinitis 50
1615 c OST136 Osteopetrosis, Autosomal Recessive 7 50
1616 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 50
1617 BRN071 Brain Injury 50
1618 CYT005 Cytomegalovirus Retinitis 50
1619 c GM1005 Gm1-Gangliosidosis, Type Ii 50
1620 c ATS393 Autosomal Recessive Cutis Laxa Type I 49
1621 c BRD020 Bardet-Biedl Syndrome 8 49
1622 c NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 49
1623 P CRN025 Corneal Dystrophy 49
1624 c CRN241 Corneal Dystrophy, Congenital Stromal 49
1625 P CHR637 Choroidal Dystrophy, Central Areolar, 1 49
1626 P OPT048 Opitz-Gbbb Syndrome 49
1627 c NMN014 Niemann-Pick Disease, Type C2 49
1628 FRN020 Frontal Fibrosing Alopecia 48
1629 c TYR013 Tyrosinemia, Type Ii 48
1630 c JBR012 Joubert Syndrome 5 48
1631 CLB026 Colobomatous Microphthalmia 48
1632 BTT001 Bietti Crystalline Corneoretinal Dystrophy 48
1633 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 48
1634 c MCR251 Microphthalmia, Syndromic 6 48
1635 LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 48
1636 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 48
1637 c BRD032 Bardet-Biedl Syndrome 14 47
1638 HLX001 Helix Syndrome 47
1639 P CLR019 Color Blindness 47
1640 MGL003 Megalocornea 47
1641 P OCL001 Ocular Albinism 47
1642 c USH040 Usher Syndrome, Type Id 47
1643 c NGH026 Night Blindness, Congenital Stationary, Type 1a 47
1644 c NLX003 Neu-Laxova Syndrome 2 47
1645 P RTN014 Retinal Artery Occlusion 46
1646 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 46
1647 c JBR011 Joubert Syndrome 7 46
1648 c CTS041 Cutis Laxa, Autosomal Dominant 3 46
1649 c WRD031 Waardenburg Syndrome, Type 3 46
1650 c HRM008 Hermansky-Pudlak Syndrome 5 46
1651 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 46
1652 c MCK014 Meckel Syndrome, Type 5 46
1653 c GM1006 Gm1-Gangliosidosis, Type Iii 46
1654 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 45
1655 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 45
1656 EPT021 Epithelial Recurrent Erosion Dystrophy 45
1657 c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 45
1658 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 45
1659 c SZR007 Seizures, Benign Familial Infantile, 3 45
1660 c RTN172 Retinitis Pigmentosa 1 45
1661 P HRN001 Horner's Syndrome 45
1662 c USH020 Usher Syndrome, Type Iic 45
1663 c OST134 Osteopetrosis, Autosomal Recessive 6 45
1664 c HYP575 Hypotrichosis 7 45
1665 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 44
1666 CRN045 Corneal Dystrophy and Perceptive Deafness 44
1667 c NRC009 Narcolepsy 1 44
1668 c RTN069 Retinitis Pigmentosa 7 44
1669 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
1670 P GNG009 Gangliosidosis 44
1671 c NGH025 Night Blindness, Congenital Stationary, Type 2a 44
1672 P OGC005 Oguchi Disease 44
1673 c CNG185 Congenital Disorder of Glycosylation, Type Iig 44
1674 c ANT085 Anterior Segment Dysgenesis 5 44
1675 c SRC023 Sarcoidosis 2 44
1676 c HRM006 Hermansky-Pudlak Syndrome 3 43
1677 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 43
1678 c MYS078 Myasthenic Syndrome, Congenital, 14 43
1679 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 43
1680 c CNG383 Congenital Disorder of Glycosylation, Type Iik 43
1681 c CNG513 Congenital Ptosis 43
1682 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 43
1683 c OST118 Osteogenesis Imperfecta, Type Viii 43
1684 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43
1685 c RTN058 Retinitis Pigmentosa 3 43
1686 c JBR028 Joubert Syndrome 13 43
1687 c WLF009 Wolfram Syndrome 2 43
1688 c WRD024 Waardenburg Syndrome, Type 4c 42
1689 c MYS070 Myasthenic Syndrome, Congenital, 19 42
1690 c RTN066 Retinitis Pigmentosa 4 42
1691 c OST106 Osteopetrosis, Autosomal Recessive 8 42
1692 c PNT037 Pontocerebellar Hypoplasia, Type 3 42
1693 CHR492 Chromosome 13q14 Deletion Syndrome 42
1694 PHT008 Photosensitive Epilepsy 41
1695 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 41
1696 c XLN231 X-Linked Alport Syndrome 41
1697 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
1698 CRN237 Corneal Dystrophy, Avellino Type 41
1699 P CLC057 Cole-Carpenter Syndrome 41
1700 SLW006 Saul-Wilson Syndrome 41
1701 c LBR009 Leber Congenital Amaurosis 14 41
1702 VTR005 Vitreous Disease 41
1703 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 41
1704 c CTS031 Cutis Laxa, Autosomal Dominant 2 41
1705 c SPN104 Spinocerebellar Ataxia 34 41
1706 c RTN130 Retinitis Pigmentosa 46 40
1707 WCK001 Wieacker-Wolff Syndrome 40
1708 SNL007 Senile Cataract 40
1709 c CNG189 Congenital Disorder of Glycosylation, Type Ib 40
1710 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 40
1711 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 40
1712 CRB086 Cerebral Aneurysms 40
1713 c MCR124 Microphthalmia, Isolated 1 40
1714 LCR013 Lacrimal Duct Defect 40
1715 CHR382 Chromosome 18q Deletion Syndrome 40
1716 ANG062 Angioosteohypertrophic Syndrome 40
1717 c MCR122 Microphthalmia, Isolated 5 39
1718 c MCR312 Microphthalmia, Syndromic 10 39
1719 c RTN062 Retinitis Pigmentosa 33 39
1720 PRM056 Primrose Syndrome 39
1721 c RTN056 Retinitis Pigmentosa 28 39
1722 P RRT020 Rare Tumor 39
1723 LGH012 Leigh Syndrome with Leukodystrophy 39
1724 c DNT021 Dent Disease 2 39
1725 c DNR003 Duane Retraction Syndrome 1 39
1726 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 39
1727 PRM024 Primary Angle-Closure Glaucoma 38
1728 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
1729 c RTN085 Retinitis Pigmentosa 54 38
1730 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 38
1731 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 38
1732 c MYS076 Myasthenic Syndrome, Congenital, 8 38
1733 c RTN052 Retinitis Pigmentosa 23 37
1734 CMB018 Combined Oxidative Phosphorylation Deficiency 7 37
1735 P HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 37
1736 c WRB005 Warburg Micro Syndrome 4 37
1737 c DVL040 Developmental and Epileptic Encephalopathy 12 37
1738 CHR502 Chromosome 17q12 Duplication Syndrome 37
1739 c ATS076 Autosomal Recessive Stickler Syndrome 37
1740 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 37
1741 c DVL050 Developmental and Epileptic Encephalopathy 24 37
1742 OCL010 Ocular Hypotension 37
1743 RNG003 Ring Dermoid of Cornea 37
1744 c RTH007 Rothmund-Thomson Syndrome, Type 1 37
1745 CRN247 Corneal Dystrophy, Thiel-Behnke Type 37
1746 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 37
1747 c NGH027 Night Blindness, Congenital Stationary, Type 1c 36
1748 c CTR141 Cataract 21, Multiple Types 36
1749 c MYS067 Myasthenic Syndrome, Congenital, 22 36
1750 P HRD217 Hereditary Optic Neuropathy 36
1751 c NGH024 Night Blindness, Congenital Stationary, Type 1h 36
1752 c CNR013 Cone-Rod Dystrophy 12 36
1753 NRT011 Neurotrophic Keratopathy 36
1754 MBM001 Meibomian Cyst 36
1755 c NRC010 Narcolepsy 2 36
1756 c RTN106 Retinitis Pigmentosa 51 36
1757 OCL048 Oculoauricular Syndrome 36
1758 ISL087 Isolated Oxycephaly 36
1759 c JBR022 Joubert Syndrome 20 36
1760 c CNR025 Cone-Rod Dystrophy 15 35
1761 c HRM011 Hermansky-Pudlak Syndrome 8 35
1762 P CNG024 Congenital Nystagmus 35
1763 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
1764 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 35
1765 c RTN171 Retinitis Pigmentosa 59 35
1766 c RTN036 Retinal Cone Dystrophy 4 35
1767 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 35
1768 c JBR030 Joubert Syndrome 22 35
1769 c CRB170 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 35
1770 KRN001 Korean Hemorrhagic Fever 34
1771 c RTN180 Retinitis Pigmentosa 74 34
1772 c PRX051 Peroxisome Biogenesis Disorder 6a 34
1773 c CNR030 Cone-Rod Dystrophy 20 34
1774 c JBR037 Joubert Syndrome 26 34
1775 c CTR095 Cataract 8, Multiple Types 34
1776 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 34
1777 TLS001 Tolosa-Hunt Syndrome 34
1778 c OPT064 Optic Atrophy 11 34
1779 FML292 Familial Drusen 34
1780 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 34
1781 c GLC041 Glaucoma 1, Open Angle, a 34
1782 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 34
1783 c RTN059 Retinitis Pigmentosa 30 33
1784 c GLC078 Glaucoma 1, Open Angle, F 33
1785 c RTN134 Retinitis Pigmentosa 40 33
1786 c ADM010 Adams-Oliver Syndrome 5 33
1787 c SPN299 Spinocerebellar Ataxia 20 33
1788 NRP048 Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 33
1789 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 33
1790 c SPN095 Spinocerebellar Ataxia 19 33
1791 c CRB100 Cerebrooculofacioskeletal Syndrome 4 33
1792 c ATX033 Ataxia-Oculomotor Apraxia 4 33
1793 c WLL040 Weill-Marchesani Syndrome 4 33
1794 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 33
1795 3MC002 3mc Syndrome 1 33
1796 c CNR017 Cone-Rod Dystrophy 9 33
1797 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 32
1798 SPN348 Spondylometaphyseal Dysplasia, Axial 32
1799 c RTN140 Retinitis Pigmentosa 67 32
1800 c CRN134 Cornelia De Lange Syndrome 2 32
1801 P SCL047 Sclerocornea 32
1802 c OST169 Osteogenesis Imperfecta, Type Xviii 32
1803 c OPT023 Optic Atrophy 2 31
1804 c NYS003 Nystagmus 2, Congenital, Autosomal Dominant 31
1805 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 31
1806 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 31
1807 c MYS065 Myasthenic Syndrome, Congenital, 18 31
1808 c JVN038 Juvenile Myasthenia Gravis 31
1809 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 31
1810 c PSD104 Pseudohypoparathyroidism, Type Ii 31
1811 c ORF036 Orofaciodigital Syndrome Xiv 31
1812 c CRB098 Cerebrooculofacioskeletal Syndrome 2 30
1813 c SPS025 Spastic Paraplegia 15 30
1814 c FRD006 Friedreich Ataxia 2 30
1815 c EXD010 Exudative Vitreoretinopathy 6 30
1816 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
1817 c HYP864 Hypoparathyroidism, Familial Isolated, 1 30
1818 c RTN190 Retinitis Pigmentosa 76 30
1819 c MYS077 Myasthenic Syndrome, Congenital, 15 30
1820 c ICH023 Ichthyosis, Acquired 30
1821 c CCK004 Cockayne Syndrome Type Iii 30
1822 3MC004 3mc Syndrome 3 30
1823 c CTR175 Cataract 24 30
1824 CNJ001 Conjugate Gaze Palsy 30
1825 TBL025 Tubulointerstitial Nephritis with Uveitis 30
1826 c ATM100 Autoimmune Optic Neuritis 29
1827 c ATS169 Autosomal Recessive Congenital Stationary Night Blindness 29
1828 c RTN149 Retinitis Pigmentosa 42 29
1829 c CWD008 Cowden Syndrome 6 29
1830 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 29
1831 CHR270 Chromosome 9p Duplication 29
1832 c SZR020 Seizures, Benign Familial Infantile, 5 29
1833 P NNT006 Neonatal Myasthenia Gravis 29
1834 P RTN034 Retinal Cone Dystrophy 3a 29
1835 LKN017 Leukoencephalopathy with Ataxia 28
1836 CRN128 Corneal Dystrophy, Endothelial, X-Linked 28
1837 MD1003 Med13l Haploinsufficiency Syndrome 28
1838 c SPS091 Spastic Paraplegia 4 28
1839 c INH030 Inherited Retinal Disorder 28
1840 c DNR004 Duane Retraction Syndrome 2 28
1841 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
1842 c MCL077 Macular Degeneration, Age-Related, 5 28
1843 c RTN213 Retinitis Pigmentosa 80 28
1844 ACT120 Acute Zonal Occult Outer Retinopathy 28
1845 c MCL070 Macular Dystrophy, Patterned, 3 28
1846 c MCR212 Microphthalmia, Syndromic 12 28
1847 c SPS062 Spastic Paraplegia 34, X-Linked 28
1848 c NYS016 Nystagmus 7, Congenital, Autosomal Dominant 27
1849 c ATS173 Autism 18 27
1850 PLY050 Polymicrogyria with Optic Nerve Hypoplasia 27
1851 c FRN032 Frontonasal Dysplasia 3 27
1852 IMM002 Immature Cataract 27
1853 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 27
1854 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 27
1855 MNT308 Mental Retardation with Optic Atrophy, Deafness, and Seizures 27
1856 c SPN286 Spinocerebellar Ataxia 40 27
1857 MCL018 Macular Dystrophy, Concentric Annular 27
1858 P CNR040 Cone-Rod Dystrophy and Hearing Loss 1 27
1859 PLL004 Pallister W Syndrome 27
1860 c FVL008 Foveal Hypoplasia 2 27
1861 P MCL035 Macular Dystrophy, Retinal, 2 26
1862 c DVL115 Developmental and Epileptic Encephalopathy 92 26
1863 MGL033 Megalocornea-Mental Retardation Syndrome 26
1864 c NGH028 Night Blindness, Congenital Stationary, Type 1d 26
1865 c SLV029 Silver-Russell Syndrome 2 26
1866 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 26
1867 SHS001 Shashi-Pena Syndrome 26
1868 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 26
1869 c DVL101 Developmental and Epileptic Encephalopathy 78 26
1870 IRD003 Iridocorneal Endothelial Syndrome 26
1871 MCR067 Microcoria, Congenital 26
1872 OCL030 Oculoauriculofrontonasal Syndrome 26
1873 c CTR125 Cataract 7 26
1874 c PRX056 Peroxisome Biogenesis Disorder 11b 26
1875 c NGH030 Night Blindness, Congenital Stationary, Type 1f 26
1876 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities 26
1877 c DVL068 Developmental and Epileptic Encephalopathy 43 26
1878 CHR284 Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids 25
1879 c SZR016 Seizures, Benign Familial Infantile, 2 25
1880 VSL005 Visual Pathway Disease 25
1881 c MCK026 Meckel Syndrome 12 25
1882 c DVL107 Developmental and Epileptic Encephalopathy 84 25
1883 c LNR016 Linear Skin Defects with Multiple Congenital Anomalies 2 25
1884 c ACQ027 Acquired Cutis Laxa 25
1885 c CTR165 Cataract 19, Multiple Types 25
1886 RTN232 Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 25
1887 c CRN280 Cornea Plana 2, Autosomal Recessive 25
1888 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
1889 c SZR014 Seizures, Benign Familial Infantile, 1 25
1890 CHS002 Chiasmal Syndrome 25
1891 c MNS008 Monosomy 21 25
1892 c DVL070 Developmental and Epileptic Encephalopathy 45 25
1893 EXT029 Extraocular Retinoblastoma 25
1894 CHR252 Chromosome 5p Duplication 24
1895 c ALP109 Alopecia-Mental Retardation Syndrome 4 24
1896 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 24
1897 c DVL112 Developmental and Epileptic Encephalopathy 89 24
1898 PRP102 Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development 24
1899 c OPT080 Optic Atrophy 12 24
1900 c SLV031 Silver-Russell Syndrome 5 24
1901 c PX6002 Pax6-Related Aniridia 24
1902 CMB076 Combined Oxidative Phosphorylation Deficiency 31 24
1903 c SNR016 Senior-Loken Syndrome 9 24
1904 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 24
1905 P OCL062 Ocular Albinism with Congenital Sensorineural Deafness 24
1906 c ATS370 Autism 3 24
1907 c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 24
1908 c RTN032 Retinal Cone Dystrophy 1 24
1909 c RTN234 Retinitis Pigmentosa 90 24
1910 c ADM012 Adams-Oliver Syndrome 6 24
1911 c EFM001 Efemp2-Related Cutis Laxa 23
1912 PRT091 Partial Cryptophthalmia 23
1913 c DVL085 Developmental and Epileptic Encephalopathy 61 23
1914 OCL070 Oculopalatocerebral Syndrome 23
1915 c ERL012 Early-Onset Glaucoma 23
1916 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 23
1917 c LTB003 Ltbp4-Related Cutis Laxa 23
1918 c ATS376 Autism 15 23
1919 CTR107 Cataract 13 with Adult I Phenotype 23
1920 HYP346 Hypotrichosis and Recurrent Skin Vesicles 23
1921 NRD031 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 23
1922 c GLC079 Glaucoma 1, Open Angle, P 23
1923 c ALP076 Alopecia-Mental Retardation Syndrome 1 23
1924 c GLL047 Galloway-Mowat Syndrome 8 23
1925 IRV001 Irvan Syndrome 23
1926 NRD062 Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 22
1927 c ATS451 Autosomal Recessive Cutis Laxa Type 2 22
1928 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22
1929 c CTR169 Cataract 29 22
1930 NRD096 Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 22
1931 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 22
1932 CTR188 Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy 22
1933 c NRC017 Narcolepsy 7 22
1934 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 22
1935 PRG116 Progressive Supranuclear Palsy-Corticobasal Syndrome 22
1936 RTN216 Retinitis Pigmentosa 82 with or Without Situs Inversus 21
1937 c ATS474 Autism 20 21
1938 c ATS378 Autism 17 21
1939 P RBN007 Rubinstein Taybi Like Syndrome 21
1940 SPN356 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia 21
1941 c MCL073 Macular Dystrophy, Vitelliform, 1 21
1942 c ATS369 Autism 8 21
1943 c ATS371 Autism 6 21
1944 NTH002 Nathalie Syndrome 21
1945 c TRC126 Treacher Collins Syndrome 4 21
1946 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 21
1947 SZR029 Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications 21
1948 LNS008 Lens Position Anomaly 21
1949 c SNR011 Senior-Loken Syndrome 3 20
1950 c ACQ002 Acquired Night Blindness 20
1951 c CWD005 Cowden Syndrome 4 20
1952 c ATS377 Autism 16 20
1953 c HYP867 Hypoparathyroidism, Familial Isolated, 2 20
1954 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 20
1955 c RTN218 Retinitis Pigmentosa 84 20
1956 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 20
1957 CHR397 Chromosome Xp11.3 Deletion Syndrome 20
1958 LYM123 Lymphedema-Hypoparathyroidism Syndrome 20
1959 ORB020 Orbital Lymphoma 20
1960 RTH002 Rutherfurd Syndrome 20
1961 c SPR049 Supranuclear Palsy, Progressive, 2 20
1962 c PTS018 Ptosis, Hereditary Congenital 1 19
1963 c CRN068 Corneal Endothelial Dystrophy Type 2 19
1964 c INH022 Inherited Ichthyosis 19
1965 ALG025 Alg1-Congenital Disorder of Glycosylation 19
1966 c MNT181 Mental Retardation, Autosomal Recessive 35 19
1967 MNS002 Mini Stroke 19
1968 SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 19
1969 MCR052 Microcephaly Microcornea Syndrome Seemanova Type 19
1970 c GLC060 Glaucoma 1, Open Angle, G 19
1971 P ALP110 Alopecia-Mental Retardation Syndrome 19
1972 P DFN296 Deafness-Onychodystrophy Syndrome 19
1973 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 18
1974 c RTN219 Retinitis Pigmentosa 85 18
1975 c GLC099 Glaucoma 1, Primary Open Angle, C 18
1976 NSL017 Nasolacrimal Duct Cyst 18
1977 c ALP075 Alopecia-Mental Retardation Syndrome 2 18
1978 GMS002 Gms Syndrome 18
1979 c DYS212 Dystonia 30 18
1980 c USH046 Usher Syndrome, Type 1m 18
1981 c SRC024 Sarcoidosis 3 17
1982 c NRC011 Narcolepsy 3 17
1983 RDR002 Rodrigues Blindness 17
1984 IGG009 Igg4-Related Ophthalmic Disease 17
1985 c ATS171 Autism 9 17
1986 c ATS172 Autism 10 17
1987 ATS326 Autosomal Recessive Isolated Optic Atrophy 17
1988 c SPS034 Spastic Paraplegia 26 17
1989 c ATS170 Autism 19 17
1990 c MYP133 Myopia 18, Autosomal Recessive 17
1991 MNT255 Mental Retardation and Psoriasis 16
1992 c CNG618 Congenital Nystagmus 1 16
1993 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 16
1994 c MYP041 Myopia 8 16
1995 c ATS372 Autism 7 16
1996 EPB002 Epiblepharon 16
1997 CTR154 Cataract, Aberrant Oral Frenula, and Growth Retardation 16
1998 SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 16
1999 CHR580 Choroid Plexus Calcification and Mental Retardation 16
2000 c MYP069 Myopia 14 16
2001 c ATS374 Autism 12 16
2002 c ALP063 Alopecia-Mental Retardation Syndrome 3 16
2003 MCR300 Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome 16
2004 CNG067 Congenital Cystic Eye 16
2005 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 15
2006 c MYP143 Myopia 11, Autosomal Dominant 15
2007 c MNT162 Mental Retardation, Autosomal Recessive 24 15
2008 c ATS373 Autism 11 15
2009 8Q1001 8q12 Microduplication Syndrome 15
2010 CHM001 Cahmr Syndrome 15
2011 MCR242 Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 15
2012 c PTS010 Ptosis, Hereditary Congenital 2 15
2013 c MNT163 Mental Retardation, Autosomal Recessive 30 15
2014 c ATS375 Autism 13 15
2015 c NRC012 Narcolepsy 4 15
2016 c FRM005 Frmd7-Related Infantile Nystagmus 15
2017 c CHR665 Choroidal Dystrophy, Central Areolar, 3 15
2018 c GLC103 Glaucoma 1, Open Angle, K 15
2019 CHR675 Chronic Relapsing Inflammatory Optic Neuropathy 15
2020 c NRC018 Narcolepsy 6 14
2021 SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 14
2022 c MNT182 Mental Retardation, Autosomal Recessive 19 14
2023 c SX2003 Six2-Related Frontonasal Dysplasia 14
2024 VNB001 Van Benthem-Driessen-Hanveld Syndrome