# |
Family |
MCID |
Name |
MIFTS |
1 |
|
LBR031 |
Leber Optic Atrophy and Dystonia |
40 |
2 |
|
RTN179 |
Retinal Arteries, Tortuosity of |
44 |
3 |
c
|
SKN065 |
Skin/hair/eye Pigmentation, Variation in, 1 |
27 |
4 |
|
SCH038 |
Schopf-Schulz-Passarge Syndrome |
51 |
5 |
|
BHR001 |
Behr Syndrome |
41 |
6 |
P
|
RTN034 |
Retinal Cone Dystrophy 3a |
32 |
7 |
|
OPT062 |
Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures |
43 |
8 |
c
|
PRS122 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
41 |
9 |
c
|
OPT053 |
Optic Atrophy 1 |
54 |
10 |
c
|
OPT068 |
Optic Atrophy 3, Autosomal Dominant |
50 |
11 |
c
|
OPT024 |
Optic Atrophy 5 |
33 |
12 |
c
|
SKN071 |
Skin/hair/eye Pigmentation, Variation in, 9 |
13 |
13 |
|
DYN002 |
Doyne Honeycomb Retinal Dystrophy |
46 |
14 |
|
OPT001 |
Optic Disk Drusen |
36 |
15 |
|
OPT079 |
Optic Atrophy 13 with Retinal and Foveal Abnormalities |
21 |
16 |
P
|
EYD002 |
Eye Disease |
59 |
17 |
|
OCL011 |
Ocular Motility Disease |
45 |
18 |
c
|
OPT065 |
Optic Atrophy 9 |
38 |
19 |
c
|
RTN131 |
Retinitis Pigmentosa 27 |
35 |
20 |
|
BRN026 |
Branch Retinal Artery Occlusion |
40 |
21 |
|
HYP742 |
Hyperpigmentation of Eyelids |
13 |
22 |
c
|
STR084 |
Stargardt Disease 1 |
55 |
23 |
|
RTN020 |
Retinal Vascular Disease |
45 |
24 |
c
|
CNR014 |
Cone-Rod Dystrophy 16 |
44 |
25 |
c
|
LBR009 |
Leber Congenital Amaurosis 14 |
43 |
26 |
c
|
ACQ001 |
Acquired Color Blindness |
31 |
27 |
c
|
OPT080 |
Optic Atrophy 12 |
25 |
28 |
|
EYL006 |
Eyelid Benign Neoplasm |
23 |
29 |
|
OPT005 |
Optic Nerve Astrocytoma |
22 |
30 |
|
APH013 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
14 |
31 |
|
PRT027 |
Partial Arterial Retinal Occlusion |
9 |
32 |
|
DRY001 |
Dry Eye Syndrome |
52 |
33 |
|
RMS001 |
Rem Sleep Behavior Disorder |
46 |
34 |
c
|
OPT064 |
Optic Atrophy 11 |
41 |
35 |
|
PRR004 |
Preretinal Fibrosis |
40 |
36 |
|
VSL013 |
Visual Impairment and Progressive Phthisis Bulbi |
39 |
37 |
|
ACT022 |
Acute Retinal Necrosis Syndrome |
38 |
38 |
|
RTN212 |
Retinal Dystrophy with or Without Macular Staphyloma |
28 |
39 |
|
SHR097 |
Short Tarsus with Absence of Lower Eyelashes |
27 |
40 |
|
MTC145 |
Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy |
23 |
41 |
|
EYB005 |
Eyebrows, Duplication of, with Stretchable Skin and Syndactyly |
16 |
42 |
P
|
CLB034 |
Coloboma, Ocular, Autosomal Dominant |
53 |
43 |
P
|
RTN016 |
Retinal Degeneration |
52 |
44 |
c
|
CNR007 |
Cone-Rod Dystrophy 6 |
52 |
45 |
|
AMB002 |
Amblyopia |
51 |
46 |
c
|
SPS125 |
Spastic Paraplegia 15, Autosomal Recessive |
50 |
47 |
c
|
CND011 |
Cone Dystrophy 3 |
36 |
48 |
|
OPT032 |
Optic Pathway Glioma |
34 |
49 |
|
BRK005 |
Berk-Tabatznik Syndrome |
7 |
50 |
|
CLB012 |
Coloboma of Optic Papilla |
6 |
51 |
c
|
LBR004 |
Leber Congenital Amaurosis 1 |
56 |
52 |
|
FND002 |
Fundus Dystrophy |
55 |
53 |
|
MCL006 |
Macular Retinal Edema |
54 |
54 |
P
|
CND005 |
Cone Dystrophy |
47 |
55 |
|
VSL002 |
Visual Epilepsy |
47 |
56 |
c
|
RTN042 |
Retinitis Pigmentosa 12 |
46 |
57 |
P
|
SPS008 |
Spastic Ataxia |
45 |
58 |
c
|
CNR005 |
Cone-Rod Dystrophy 3 |
42 |
59 |
c
|
CNR006 |
Cone-Rod Dystrophy 5 |
40 |
60 |
c
|
MCL059 |
Macular Dystrophy, Patterned, 1 |
38 |
61 |
|
TRC077 |
Trichomegaly |
37 |
62 |
|
VSL003 |
Visual Agnosia |
36 |
63 |
c
|
RTN032 |
Retinal Cone Dystrophy 1 |
33 |
64 |
c
|
SPS025 |
Spastic Paraplegia 15 |
32 |
65 |
|
RTN011 |
Retina Lymphoma |
32 |
66 |
c
|
SPS212 |
Spastic Ataxia 5, Autosomal Recessive |
31 |
67 |
|
OPT002 |
Optic Nerve Sheath Meningioma |
30 |
68 |
c
|
RTN067 |
Retinitis Pigmentosa 41 |
30 |
69 |
c
|
SPS072 |
Spastic Ataxia 1, Autosomal Dominant |
30 |
70 |
c
|
SPS142 |
Spastic Ataxia 2, Autosomal Recessive |
30 |
71 |
c
|
SPS170 |
Spastic Ataxia 2 |
29 |
72 |
|
RTN010 |
Retinal Melanoma |
27 |
73 |
c
|
SPS208 |
Spastic Ataxia 4, Autosomal Recessive |
27 |
74 |
c
|
SPS136 |
Spastic Ataxia 3, Autosomal Recessive |
27 |
75 |
c
|
SPS171 |
Spastic Ataxia 5 |
27 |
76 |
c
|
SPS214 |
Spastic Ataxia 4 |
24 |
77 |
c
|
SPS163 |
Spastic Ataxia 3 |
22 |
78 |
c
|
ATS438 |
Autosomal Recessive Spastic Ataxia |
22 |
79 |
c
|
SPS233 |
Spastic Ataxia 9, Autosomal Recessive |
22 |
80 |
c
|
SPS191 |
Spastic Ataxia 7, Autosomal Dominant |
21 |
81 |
|
CBB001 |
Cobblestone Retinal Degeneration |
20 |
82 |
|
LBR039 |
Leber Hereditary Optic Neuropathy, Autosomal Recessive |
19 |
83 |
|
RTN005 |
Retinal Lattice Degeneration |
18 |
84 |
c
|
SPS229 |
Spastic Ataxia 8 |
18 |
85 |
c
|
SPS162 |
Spastic Ataxia 1 |
17 |
86 |
c
|
SKN069 |
Skin/hair/eye Pigmentation, Variation in, 7 |
14 |
87 |
|
CHL024 |
Childhood Optic Nerve Glioma |
11 |
88 |
|
TRN010 |
Transient Retinal Arterial Occlusion |
11 |
89 |
c
|
ATS437 |
Autosomal Dominant Spastic Ataxia |
9 |
90 |
|
HLR003 |
Hole Retinal Cyst |
7 |
91 |
|
PRT007 |
Partial of Retinal Vein Occlusion |
7 |
92 |
|
GLC005 |
Glaucomatous Atrophy of Optic Disc |
6 |
93 |
|
VNS001 |
Venous Tributary Occlusion of Retina |
6 |
94 |
c
|
SPS172 |
Spastic Ataxia 7 |
5 |
95 |
|
CHL023 |
Childhood Optic Tract Astrocytoma |
5 |
96 |
P
|
VTL001 |
Vitelliform Macular Dystrophy |
47 |
97 |
c
|
RTN058 |
Retinitis Pigmentosa 3 |
45 |
98 |
|
OCL086 |
Ocular Pigment Dispersion with or Without Glaucoma |
43 |
99 |
|
RTN231 |
Retinal Dystrophy with Leukodystrophy |
38 |
100 |
P
|
CNR031 |
Cone-Rod Dystrophy, X-Linked, 1 |
38 |
101 |
|
CRB189 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss |
34 |
102 |
c
|
CNR039 |
Cone-Rod Dystrophy, X-Linked, 2 |
29 |
103 |
c
|
ENC049 |
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 |
29 |
104 |
|
RTN229 |
Retinitis Pigmentosa 87 with Choroidal Involvement |
24 |
105 |
|
RTN191 |
Retinal Dystrophy with or Without Extraocular Anomalies |
19 |
106 |
|
EXF001 |
Exfoliation Syndrome |
56 |
107 |
c
|
LBR012 |
Leber Congenital Amaurosis 2 |
53 |
108 |
|
HYP748 |
Hypertelorism |
50 |
109 |
|
PPL021 |
Papilledema |
50 |
110 |
c
|
RTN036 |
Retinal Cone Dystrophy 4 |
48 |
111 |
c
|
MCR124 |
Microphthalmia, Isolated 1 |
46 |
112 |
|
OPT010 |
Optic Papillitis |
40 |
113 |
c
|
RTN230 |
Retinitis Pigmentosa 88 |
39 |
114 |
c
|
CNR003 |
Cone-Rod Dystrophy 1 |
38 |
115 |
c
|
KNB006 |
Knobloch Syndrome 1 |
37 |
116 |
c
|
MCR211 |
Microphthalmia, Isolated 6 |
37 |
117 |
c
|
RTN130 |
Retinitis Pigmentosa 46 |
37 |
118 |
c
|
RTN217 |
Retinitis Pigmentosa 83 |
34 |
119 |
c
|
RNG029 |
Ring Chromosome 14 Syndrome |
34 |
120 |
c
|
ISL165 |
Isolated Microphthalmia 3 |
34 |
121 |
c
|
RNG008 |
Ring Chromosome 13 |
33 |
122 |
c
|
RNG023 |
Ring Chromosome 7 |
33 |
123 |
c
|
RTN227 |
Retinitis Pigmentosa 86 |
32 |
124 |
c
|
RNG018 |
Ring Chromosome 22 |
32 |
125 |
c
|
CND012 |
Cone Dystrophy 4 |
31 |
126 |
c
|
RNG017 |
Ring Chromosome 21 |
31 |
127 |
c
|
RNG004 |
Ring Chromosome 1 |
30 |
128 |
c
|
RNG022 |
Ring Chromosome 6 |
29 |
129 |
c
|
RNG007 |
Ring Chromosome 12 |
29 |
130 |
c
|
RNG020 |
Ring Chromosome 4 |
28 |
131 |
c
|
RNG024 |
Ring Chromosome 8 |
28 |
132 |
c
|
RNG005 |
Ring Chromosome 10 |
28 |
133 |
P
|
RNG032 |
Ring Chromosome |
27 |
134 |
c
|
RNG013 |
Ring Chromosome 18 |
26 |
135 |
c
|
OPT025 |
Optic Atrophy 6 |
26 |
136 |
c
|
OPT060 |
Optic Atrophy 8 |
25 |
137 |
|
RTN173 |
Retinal Dystrophy and Obesity |
25 |
138 |
c
|
RNG010 |
Ring Chromosome 15 |
25 |
139 |
c
|
RNG016 |
Ring Chromosome 20 |
25 |
140 |
c
|
RNG006 |
Ring Chromosome 11 |
24 |
141 |
c
|
RNG015 |
Ring Chromosome 2 |
23 |
142 |
P
|
ISL020 |
Isolated Microphthalmia |
23 |
143 |
c
|
RNG019 |
Ring Chromosome 3 |
23 |
144 |
c
|
RNG025 |
Ring Chromosome 9 |
22 |
145 |
c
|
RNG021 |
Ring Chromosome 5 |
22 |
146 |
|
ACT201 |
Acute Posterior Multifocal Placoid Pigment Epitheliopathy |
21 |
147 |
c
|
OPT059 |
Optic Atrophy 4 |
20 |
148 |
c
|
RNG011 |
Ring Chromosome 16 |
19 |
149 |
c
|
RNG014 |
Ring Chromosome 19 |
19 |
150 |
c
|
RNG031 |
Ring Chromosome Y Syndrome |
18 |
151 |
|
GRP007 |
Grouped Pigmentation of the Retina |
17 |
152 |
c
|
CNT016 |
Central Retinal Vein Occlusion |
57 |
153 |
P
|
RTN022 |
Retinal Vein Occlusion |
53 |
154 |
c
|
ACH020 |
Achromatopsia 2 |
52 |
155 |
c
|
NGH026 |
Night Blindness, Congenital Stationary, Type 1a |
51 |
156 |
c
|
LBR008 |
Leber Congenital Amaurosis 13 |
48 |
157 |
|
KHN001 |
Kuhnt-Junius Degeneration |
47 |
158 |
c
|
SPN283 |
Spinocerebellar Ataxia 37 |
44 |
159 |
|
ACT011 |
Acute Contagious Conjunctivitis |
42 |
160 |
c
|
MCL038 |
Macular Degeneration, Age-Related, 4 |
39 |
161 |
|
CNR033 |
Cone-Rod Synaptic Disorder, Congenital Nonprogressive |
38 |
162 |
c
|
RTN070 |
Retinitis Pigmentosa 9 |
38 |
163 |
c
|
CNR038 |
Cone-Rod Dystrophy, X-Linked, 3 |
36 |
164 |
c
|
NGH029 |
Night Blindness, Congenital Stationary, Type 1e |
36 |
165 |
c
|
RTN150 |
Retinitis Pigmentosa 10 |
35 |
166 |
c
|
GLC041 |
Glaucoma 1, Open Angle, a |
34 |
167 |
c
|
RTN140 |
Retinitis Pigmentosa 67 |
31 |
168 |
|
RTN013 |
Retinal Hemangioblastoma |
31 |
169 |
P
|
NYS017 |
Nystagmus 1, Congenital, X-Linked |
31 |
170 |
c
|
FVL006 |
Foveal Hypoplasia 1 |
31 |
171 |
c
|
RTN057 |
Retinitis Pigmentosa 29 |
30 |
172 |
|
RFR017 |
Refractive Amblyopia |
27 |
173 |
c
|
RTN068 |
Retinitis Pigmentosa 6 |
26 |
174 |
|
ENC048 |
Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy |
26 |
175 |
c
|
RTN053 |
Retinitis Pigmentosa 24 |
25 |
176 |
|
XLN012 |
X-Linked Congenital Stationary Night Blindness |
24 |
177 |
c
|
RTN051 |
Retinitis Pigmentosa 22 |
24 |
178 |
|
PSD005 |
Pseudoretinitis Pigmentosa |
24 |
179 |
c
|
GLC079 |
Glaucoma 1, Open Angle, P |
23 |
180 |
c
|
CNR032 |
Cone-Rod Dystrophy 21 |
23 |
181 |
c
|
RTN148 |
Retinitis Pigmentosa 63 |
22 |
182 |
c
|
MYP168 |
Myopia 27, Autosomal Dominant |
21 |
183 |
|
NGH031 |
Night Blindness, Congenital Stationary, Type1i |
21 |
184 |
|
ULR001 |
Ulerythema Ophryogenesis |
20 |
185 |
c
|
RTN063 |
Retinitis Pigmentosa 34 |
19 |
186 |
|
BLN017 |
Balint Syndrome |
18 |
187 |
c
|
RTN206 |
Retinitis Pigmentosa, Late-Adult Onset |
18 |
188 |
c
|
GLC101 |
Glaucoma 1, Open Angle, B |
17 |
189 |
c
|
GLC051 |
Glaucoma 1, Open Angle, M |
17 |
190 |
c
|
GLC099 |
Glaucoma 1, Primary Open Angle, C |
17 |
191 |
c
|
GLC100 |
Glaucoma 1, Open Angle, D |
17 |
192 |
c
|
NNS043 |
Nonsyndromic Retinitis Pigmentosa |
16 |
193 |
c
|
SKN060 |
Skin/hair/eye Pigmentation, Variation in, 11 |
15 |
194 |
|
BLS004 |
Blessig's Cysts |
15 |
195 |
c
|
GLC048 |
Glaucoma 1, Open Angle, I |
14 |
196 |
c
|
GLC076 |
Glaucoma 1, Open Angle, H |
14 |
197 |
c
|
GLC103 |
Glaucoma 1, Open Angle, K |
13 |
198 |
|
SJG009 |
Sjogren-Larsson-Like Ichthyosis Without Cns or Eye Involvement |
13 |
199 |
c
|
GLC102 |
Glaucoma 1, Open Angle, J |
11 |
200 |
c
|
GLC080 |
Glaucoma 1, Open Angle, N |
11 |
201 |
c
|
RTN223 |
Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene |
10 |
202 |
|
OCL031 |
Oculo-Cerebral Dysplasia |
9 |
203 |
|
ANT020 |
Anterior Optic Tract Meningioma |
6 |
204 |
|
SNL002 |
Senile Reticular Retinal Degeneration |
6 |
205 |
|
CYS012 |
Cystoid Macular Retinal Degeneration |
6 |
206 |
|
PRM009 |
Primary Eye Hypotony |
5 |
207 |
|
CRT010 |
Crater-Like Holes of Optic Disc |
4 |
208 |
|
RTN009 |
Retinal Dystrophies Primarily Involving Bruch's Membrane |
4 |
209 |
P
|
ANR048 |
Aniridia 1 |
62 |
210 |
c
|
SPN309 |
Spinocerebellar Ataxia 6 |
60 |
211 |
|
3MC001 |
3mc Syndrome 2 |
49 |
212 |
c
|
LBR018 |
Leber Congenital Amaurosis 8 |
49 |
213 |
c
|
RTN041 |
Retinitis Pigmentosa 11 |
48 |
214 |
|
ALB002 |
Albinism |
47 |
215 |
|
RFR003 |
Refractive Error |
47 |
216 |
c
|
ACH021 |
Achromatopsia 3 |
47 |
217 |
c
|
LBR016 |
Leber Congenital Amaurosis 6 |
47 |
218 |
c
|
RTN069 |
Retinitis Pigmentosa 7 |
46 |
219 |
|
OCL052 |
Ocular Dominance |
39 |
220 |
c
|
MCL043 |
Macular Degeneration, Age-Related, 2 |
39 |
221 |
|
PST036 |
Posterior Column Ataxia with Retinitis Pigmentosa |
38 |
222 |
c
|
DNR003 |
Duane Retraction Syndrome 1 |
38 |
223 |
|
HYD007 |
Hydrophthalmos |
37 |
224 |
c
|
RTN046 |
Retinitis Pigmentosa 17 |
36 |
225 |
c
|
OGC002 |
Oguchi Disease 2 |
35 |
226 |
c
|
OGC001 |
Oguchi Disease 1 |
35 |
227 |
c
|
RTN166 |
Retinitis Pigmentosa 69 |
35 |
228 |
c
|
NGH024 |
Night Blindness, Congenital Stationary, Type 1h |
34 |
229 |
|
AMR003 |
Amaurosis Fugax |
34 |
230 |
|
FML286 |
Familial Isolated Trichomegaly |
34 |
231 |
c
|
RTN234 |
Retinitis Pigmentosa 90 |
32 |
232 |
|
ABS022 |
Absolute Glaucoma |
31 |
233 |
c
|
RTN116 |
Retinitis Pigmentosa 56 |
31 |
234 |
c
|
PHL010 |
Peho-Like Syndrome |
30 |
235 |
c
|
MCL052 |
Macular Degeneration, Age-Related, 13 |
30 |
236 |
c
|
MYP018 |
Myopia 6 |
29 |
237 |
|
MCL057 |
Macular Dystrophy with Central Cone Involvement |
28 |
238 |
c
|
ANR047 |
Aniridia 2 |
28 |
239 |
|
OCL025 |
Ocular Toxoplasmosis |
27 |
240 |
|
CHR393 |
Chromosome 19p13.13 Deletion Syndrome |
27 |
241 |
c
|
MCR349 |
Microphthalmia, Isolated, with Coloboma 3 |
26 |
242 |
|
NRD120 |
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy |
24 |
243 |
c
|
MCL061 |
Macular Dystrophy, Vitelliform, 4 |
24 |
244 |
|
MCR330 |
Microphthalmia, Isolated, with Cataract 1 |
23 |
245 |
P
|
MCL058 |
Macular Degeneration, Early-Onset |
23 |
246 |
c
|
MCL056 |
Macular Dystrophy, Vitelliform, 5 |
22 |
247 |
|
NTR002 |
Nutritional Optic Neuropathy |
22 |
248 |
|
EYC003 |
Eye Accommodation Disease |
21 |
249 |
|
RTN236 |
Retinal Dystrophy and Microvillus Inclusion Disease |
21 |
250 |
c
|
MYP070 |
Myopia 21, Autosomal Dominant |
20 |
251 |
c
|
MYP074 |
Myopia 23, Autosomal Recessive |
20 |
252 |
c
|
CNR042 |
Cone-Rod Dystrophy 22 |
20 |
253 |
c
|
MYP090 |
Myopia 24, Autosomal Dominant |
19 |
254 |
c
|
MYP117 |
Myopia 25, Autosomal Dominant |
19 |
255 |
|
MCL018 |
Macular Dystrophy, Concentric Annular |
19 |
256 |
c
|
RTN238 |
Retinitis Pigmentosa 92 |
19 |
257 |
c
|
MYP075 |
Myopia 22, Autosomal Dominant |
18 |
258 |
c
|
PX6002 |
Pax6-Related Aniridia |
14 |
259 |
|
CHR720 |
Chromosome 16q12 Duplication Syndrome |
12 |
260 |
|
RTN203 |
Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole |
10 |
261 |
|
HRD179 |
Hair Defect-Photosensitivity-Intellectual Disability Syndrome |
7 |
262 |
|
WLK002 |
Walker Dyson Syndrome |
6 |
263 |
|
INT303 |
Intracranial Hypertension, Idiopathic |
57 |
264 |
c
|
LTH007 |
Lethal Congenital Contracture Syndrome 1 |
53 |
265 |
|
RTN003 |
Retinal Ischemia |
48 |
266 |
c
|
LBR005 |
Leber Congenital Amaurosis 10 |
47 |
267 |
|
GRV014 |
Graves Ophthalmopathy |
47 |
268 |
c
|
LBR019 |
Leber Congenital Amaurosis 9 |
47 |
269 |
c
|
RTN162 |
Retinitis Pigmentosa 2 |
47 |
270 |
P
|
SDR002 |
Siderosis |
45 |
271 |
|
BSL037 |
Basal Laminar Drusen |
44 |
272 |
P
|
HRN001 |
Horner's Syndrome |
44 |
273 |
c
|
LBR007 |
Leber Congenital Amaurosis 12 |
44 |
274 |
c
|
LBR017 |
Leber Congenital Amaurosis 7 |
41 |
275 |
c
|
GLC114 |
Glaucoma, Primary Closed-Angle |
40 |
276 |
P
|
LTH003 |
Lethal Congenital Contracture Syndrome |
39 |
277 |
c
|
ECT101 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
39 |
278 |
c
|
LBR006 |
Leber Congenital Amaurosis 11 |
39 |
279 |
c
|
LTH008 |
Lethal Congenital Contracture Syndrome 2 |
38 |
280 |
c
|
LTH026 |
Lethal Congenital Contracture Syndrome 4 |
36 |
281 |
c
|
CRN306 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
33 |
282 |
|
LWR019 |
Lowry-Wood Syndrome |
33 |
283 |
P
|
ACT028 |
Acute Closed-Angle Glaucoma |
32 |
284 |
|
JVN026 |
Jeavons Syndrome |
32 |
285 |
c
|
CTR187 |
Cataract 48 |
32 |
286 |
|
ACN019 |
Acanthamoeba Keratitis |
31 |
287 |
c
|
NGH028 |
Night Blindness, Congenital Stationary, Type 1d |
31 |
288 |
c
|
NYS004 |
Nystagmus 3, Congenital, Autosomal Dominant |
30 |
289 |
c
|
CLB022 |
Coloboma, Ocular, Autosomal Recessive |
29 |
290 |
c
|
ATM100 |
Autoimmune Optic Neuritis |
29 |
291 |
c
|
LTH047 |
Lethal Congenital Contracture Syndrome 3 |
28 |
292 |
c
|
DNR004 |
Duane Retraction Syndrome 2 |
28 |
293 |
c
|
RTN219 |
Retinitis Pigmentosa 85 |
27 |
294 |
c
|
STR054 |
Stargardt Disease 4 |
27 |
295 |
|
KRT074 |
Keratoendotheliitis Fugax Hereditaria |
26 |
296 |
c
|
LTH029 |
Lethal Congenital Contracture Syndrome 9 |
26 |
297 |
c
|
LTH042 |
Lethal Congenital Contracture Syndrome 10 |
25 |
298 |
c
|
LTH032 |
Lethal Congenital Contracture Syndrome 7 |
25 |
299 |
c
|
LTH027 |
Lethal Congenital Contracture Syndrome 5 |
25 |
300 |
c
|
LTH039 |
Lethal Congenital Contracture Syndrome 11 |
25 |
301 |
c
|
MCL039 |
Macular Degeneration, Age-Related, 8 |
25 |
302 |
|
SPS211 |
Spasticity, Childhood-Onset, with Hyperglycinemia |
25 |
303 |
c
|
LTH030 |
Lethal Congenital Contracture Syndrome 8 |
24 |
304 |
|
EPL011 |
Epilepsy, Benign Occipital |
24 |
305 |
c
|
CTR136 |
Cataract 41 |
23 |
306 |
|
INT012 |
Interval Angle-Closure Glaucoma |
23 |
307 |
c
|
HRN024 |
Horner Syndrome, Congenital |
22 |
308 |
c
|
LTH031 |
Lethal Congenital Contracture Syndrome 6 |
22 |
309 |
|
HYP046 |
Hypopigmentation of Eyelid |
21 |
310 |
|
NRD170 |
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment |
20 |
311 |
|
MYP135 |
Myopia 26, X-Linked, Female-Limited |
20 |
312 |
|
RB1001 |
Rab18 Deficiency |
20 |
313 |
c
|
LBR034 |
Leber Congenital Amaurosis 19 |
20 |
314 |
c
|
MYP169 |
Myopia 28, Autosomal Recessive |
20 |
315 |
c
|
RTN239 |
Retinitis Pigmentosa 93 |
19 |
316 |
|
SRD002 |
Srd5a3-Congenital Disorder of Glycosylation |
19 |
317 |
P
|
PTT054 |
Patterned Macular Dystrophy |
19 |
318 |
|
DVR007 |
Diverticulosis of Bowel, Hernia, and Retinal Detachment |
15 |
319 |
c
|
MCL080 |
Macular Dystrophy, Retinal, 4 |
14 |
320 |
|
ECT009 |
Ectopia Pupillae |
14 |
321 |
|
MCR357 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
12 |
322 |
c
|
SDR001 |
Siderosis of Eye |
7 |
323 |
|
CLB023 |
Coloboma of Inferior Eyelid |
6 |
324 |
|
CLB024 |
Coloboma of Superior Eyelid |
6 |
325 |
|
INT285 |
Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome |
6 |
326 |
|
TTT001 |
Tatton-Brown-Rahman Syndrome |
73 |
327 |
c
|
PRX045 |
Peroxisome Biogenesis Disorder 1b |
65 |
328 |
P
|
ENC018 |
Encephalopathy |
64 |
329 |
P
|
LBR014 |
Leber Congenital Amaurosis 4 |
61 |
330 |
c
|
FRS014 |
Fraser Syndrome 1 |
61 |
331 |
c
|
PRX059 |
Peroxisome Biogenesis Disorder 1a |
59 |
332 |
c
|
ANT077 |
Anterior Segment Dysgenesis 1 |
52 |
333 |
c
|
SPN106 |
Spinocerebellar Ataxia 5 |
52 |
334 |
|
CHR078 |
Chorioretinitis |
50 |
335 |
|
CYT005 |
Cytomegalovirus Retinitis |
49 |
336 |
c
|
LBR013 |
Leber Congenital Amaurosis 3 |
48 |
337 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
47 |
338 |
c
|
RTN172 |
Retinitis Pigmentosa 1 |
47 |
339 |
c
|
CTR103 |
Cataract 4, Multiple Types |
47 |
340 |
c
|
CTR098 |
Cataract 1, Multiple Types |
47 |
341 |
c
|
RTN141 |
Retinitis Pigmentosa 39 |
46 |
342 |
c
|
ANT071 |
Anterior Segment Dysgenesis 4 |
46 |
343 |
|
IRT001 |
Iritis |
45 |
344 |
c
|
RTN054 |
Retinitis Pigmentosa 25 |
45 |
345 |
c
|
RTN055 |
Retinitis Pigmentosa 26 |
45 |
346 |
c
|
RTN043 |
Retinitis Pigmentosa 13 |
44 |
347 |
c
|
CTR182 |
Cataract 23, Multiple Types |
44 |
348 |
c
|
CTR096 |
Cataract 6, Multiple Types |
44 |
349 |
c
|
RTN044 |
Retinitis Pigmentosa 14 |
43 |
350 |
c
|
RTN066 |
Retinitis Pigmentosa 4 |
43 |
351 |
c
|
ENC057 |
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 |
43 |
352 |
|
CRB016 |
Carbuncle |
42 |
353 |
c
|
GLC078 |
Glaucoma 1, Open Angle, F |
42 |
354 |
c
|
RTN159 |
Retinitis Pigmentosa 45 |
42 |
355 |
c
|
FRS016 |
Fraser Syndrome 2 |
42 |
356 |
c
|
CNR024 |
Cone-Rod Dystrophy 13 |
42 |
357 |
c
|
RTN157 |
Retinitis Pigmentosa 37 |
41 |
358 |
c
|
LBR010 |
Leber Congenital Amaurosis 15 |
41 |
359 |
c
|
RTN177 |
Retinitis Pigmentosa 73 |
41 |
360 |
c
|
RTN050 |
Retinitis Pigmentosa 20 |
41 |
361 |
c
|
RTN142 |
Retinitis Pigmentosa 38 |
41 |
362 |
c
|
RTN062 |
Retinitis Pigmentosa 33 |
41 |
363 |
c
|
RTN047 |
Retinitis Pigmentosa 18 |
41 |
364 |
c
|
MCL078 |
Macular Degeneration, Age-Related, 14 |
40 |
365 |
c
|
RTN090 |
Retinitis Pigmentosa 55 |
40 |
366 |
c
|
RTN171 |
Retinitis Pigmentosa 59 |
40 |
367 |
c
|
CTR118 |
Cataract 14, Multiple Types |
40 |
368 |
c
|
SPN099 |
Spinocerebellar Ataxia 26 |
40 |
369 |
c
|
EXD004 |
Exudative Vitreoretinopathy 4 |
40 |
370 |
c
|
RTN085 |
Retinitis Pigmentosa 54 |
40 |
371 |
c
|
ACH038 |
Achromatopsia 7 |
40 |
372 |
c
|
CNR017 |
Cone-Rod Dystrophy 9 |
39 |
373 |
c
|
PRX054 |
Peroxisome Biogenesis Disorder 12a |
39 |
374 |
c
|
PRX055 |
Peroxisome Biogenesis Disorder 11a |
39 |
375 |
c
|
CNR016 |
Cone-Rod Dystrophy 7 |
38 |
376 |
c
|
CTR174 |
Cataract 40 |
38 |
377 |
c
|
MCL041 |
Macular Degeneration, Age-Related, 7 |
38 |
378 |
c
|
RTN180 |
Retinitis Pigmentosa 74 |
38 |
379 |
c
|
RTN059 |
Retinitis Pigmentosa 30 |
38 |
380 |
c
|
RTN210 |
Retinitis Pigmentosa 50 |
38 |
381 |
c
|
RTN048 |
Retinitis Pigmentosa 19 |
38 |
382 |
c
|
MCL044 |
Macular Degeneration, Age-Related, 9 |
38 |
383 |
c
|
PRX063 |
Peroxisome Biogenesis Disorder 2a |
37 |
384 |
c
|
LBR015 |
Leber Congenital Amaurosis 5 |
37 |
385 |
c
|
ACH023 |
Achromatopsia 4 |
37 |
386 |
|
DNC004 |
Diencephalic Syndrome |
36 |
387 |
c
|
RTN056 |
Retinitis Pigmentosa 28 |
36 |
388 |
c
|
RTN146 |
Retinitis Pigmentosa 62 |
36 |
389 |
c
|
CNR013 |
Cone-Rod Dystrophy 12 |
36 |
390 |
c
|
PRX060 |
Peroxisome Biogenesis Disorder 5a |
36 |
391 |
|
CRT012 |
Cortical Blindness |
36 |
392 |
c
|
STR040 |
Stargardt Disease 3 |
35 |
393 |
c
|
RTN134 |
Retinitis Pigmentosa 40 |
35 |
394 |
c
|
RTN052 |
Retinitis Pigmentosa 23 |
35 |
395 |
c
|
CNR012 |
Cone-Rod Dystrophy 11 |
35 |
396 |
c
|
PRX050 |
Peroxisome Biogenesis Disorder 9b |
35 |
397 |
|
RTN006 |
Retinal Drusen |
34 |
398 |
c
|
CNR025 |
Cone-Rod Dystrophy 15 |
34 |
399 |
c
|
RTN152 |
Retinitis Pigmentosa 66 |
34 |
400 |
c
|
RTN176 |
Retinitis Pigmentosa 71 |
34 |
401 |
c
|
PRX057 |
Peroxisome Biogenesis Disorder 4a |
34 |
402 |
c
|
RTN114 |
Retinitis Pigmentosa 58 |
34 |
403 |
c
|
PRX065 |
Peroxisome Biogenesis Disorder 3a |
34 |
404 |
c
|
CTR095 |
Cataract 8, Multiple Types |
34 |
405 |
|
STR019 |
Steroid-Induced Glaucoma |
33 |
406 |
c
|
RTN149 |
Retinitis Pigmentosa 42 |
33 |
407 |
c
|
RTN186 |
Retinitis Pigmentosa 75 |
33 |
408 |
|
MCL029 |
Macular Degeneration, X-Linked Atrophic |
33 |
409 |
c
|
CNR026 |
Cone-Rod Dystrophy 18 |
33 |
410 |
c
|
RTN060 |
Retinitis Pigmentosa 31 |
33 |
411 |
c
|
PRX051 |
Peroxisome Biogenesis Disorder 6a |
33 |
412 |
c
|
CNR021 |
Cone-Rod Dystrophy 10 |
33 |
413 |
c
|
MCR259 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 |
33 |
414 |
c
|
CNR030 |
Cone-Rod Dystrophy 20 |
32 |
415 |
c
|
PRX046 |
Peroxisome Biogenesis Disorder 7a |
32 |
416 |
c
|
RTN165 |
Retinitis Pigmentosa 68 |
32 |
417 |
c
|
CHR054 |
Chronic Closed-Angle Glaucoma |
32 |
418 |
|
ECT033 |
Ectopia Lentis Et Pupillae |
32 |
419 |
c
|
RTN233 |
Retinitis Pigmentosa 89 |
32 |
420 |
c
|
RTN218 |
Retinitis Pigmentosa 84 |
32 |
421 |
c
|
CTR185 |
Cataract 30 |
32 |
422 |
c
|
EXD006 |
Exudative Vitreoretinopathy 5 |
31 |
423 |
c
|
RTN144 |
Retinitis Pigmentosa 61 |
31 |
424 |
|
SML010 |
Simultanagnosia |
31 |
425 |
c
|
RTN061 |
Retinitis Pigmentosa 32 |
31 |
426 |
c
|
PRX048 |
Peroxisome Biogenesis Disorder 10a |
31 |
427 |
c
|
RTN064 |
Retinitis Pigmentosa 35 |
31 |
428 |
c
|
CTR124 |
Cataract 10, Multiple Types |
31 |
429 |
c
|
RTN190 |
Retinitis Pigmentosa 76 |
31 |
430 |
c
|
MCL071 |
Macular Dystrophy, Patterned, 2 |
31 |
431 |
c
|
RTN106 |
Retinitis Pigmentosa 51 |
31 |
432 |
c
|
RTN117 |
Retinitis Pigmentosa 57 |
31 |
433 |
c
|
SPS062 |
Spastic Paraplegia 34, X-Linked |
31 |
434 |
c
|
RTN192 |
Retinitis Pigmentosa 77 |
30 |
435 |
c
|
RTN178 |
Retinitis Pigmentosa 72 |
30 |
436 |
P
|
PRX064 |
Peroxisome Biogenesis Disorder 2b |
30 |
437 |
c
|
CTR175 |
Cataract 24 |
30 |
438 |
c
|
PRX058 |
Peroxisome Biogenesis Disorder 4b |
30 |
439 |
c
|
RTN160 |
Retinitis Pigmentosa 60 |
30 |
440 |
c
|
PRX052 |
Peroxisome Biogenesis Disorder 13a |
30 |
441 |
c
|
RTN133 |
Retinitis Pigmentosa 43 |
30 |
442 |
|
RTN019 |
Retinal Telangiectasia |
30 |
443 |
P
|
MCR352 |
Microphthalmia, Isolated, with Coloboma 6 |
30 |
444 |
|
CRN238 |
Corneal Dystrophy, Epithelial Basement Membrane |
30 |
445 |
|
CRT069 |
Cortical Malformations, Occipital |
30 |
446 |
c
|
CTR119 |
Cataract 32, Multiple Types |
30 |
447 |
c
|
NYS013 |
Nystagmus 6, Congenital, X-Linked |
30 |
448 |
|
TXC008 |
Toxic Optic Neuropathy |
29 |
449 |
c
|
SPS198 |
Spastic Paraplegia 16, X-Linked |
29 |
450 |
c
|
RTN136 |
Retinitis Pigmentosa 44 |
29 |
451 |
|
SHP001 |
Shipyard Eye |
29 |
452 |
c
|
RTN213 |
Retinitis Pigmentosa 80 |
29 |
453 |
c
|
RTN065 |
Retinitis Pigmentosa 36 |
29 |
454 |
c
|
RTN129 |
Retinitis Pigmentosa 49 |
29 |
455 |
c
|
PRX066 |
Peroxisome Biogenesis Disorder 3b |
29 |
456 |
|
OCL004 |
Ocular Hyperemia |
29 |
457 |
c
|
FRS015 |
Fraser Syndrome 3 |
28 |
458 |
c
|
PRX091 |
Peroxisome Biogenesis Disorder 8a |
28 |
459 |
c
|
PRX043 |
Peroxisome Biogenesis Disorder 6b |
28 |
460 |
c
|
PRX047 |
Peroxisome Biogenesis Disorder 5b |
28 |
461 |
c
|
PRX053 |
Peroxisome Biogenesis Disorder 14b |
28 |
462 |
c
|
MCL077 |
Macular Degeneration, Age-Related, 5 |
28 |
463 |
c
|
MCL030 |
Macular Degeneration, Age-Related, 10 |
28 |
464 |
c
|
RTN143 |
Retinitis Pigmentosa 47 |
28 |
465 |
c
|
PRX068 |
Peroxisome Biogenesis Disorder 7b |
27 |
466 |
|
HMC012 |
Hemicrania Continua |
27 |
467 |
c
|
MCR282 |
Microcephaly and Chorioretinopathy 1 |
27 |
468 |
|
JBR046 |
Jaberi-Elahi Syndrome |
27 |
469 |
|
RTN004 |
Retinal Microaneurysm |
26 |
470 |
c
|
PRX062 |
Peroxisome Biogenesis Disorder 8b |
26 |
471 |
c
|
CNR029 |
Cone-Rod Dystrophy 19 |
26 |
472 |
c
|
CTR121 |
Cataract 25 |
26 |
473 |
|
PHC002 |
Phacogenic Glaucoma |
25 |
474 |
c
|
NNP011 |
Nanophthalmos 2 |
25 |
475 |
c
|
RTN169 |
Retinitis Pigmentosa 70 |
25 |
476 |
c
|
CRN160 |
Corneal Dystrophy, Lattice Type Iiia |
25 |
477 |
c
|
MCL040 |
Macular Degeneration, Age-Related, 3 |
25 |
478 |
P
|
TXC009 |
Toxic Maculopathy |
25 |
479 |
|
MTC230 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
25 |
480 |
c
|
CHR449 |
Choroidal Dystrophy, Central Areolar 2 |
25 |
481 |
c
|
PRX056 |
Peroxisome Biogenesis Disorder 11b |
24 |
482 |
c
|
NNP012 |
Nanophthalmos 4 |
24 |
483 |
c
|
MCL065 |
Macular Degeneration, Age-Related, 15 |
24 |
484 |
|
AQS001 |
Aqueous Misdirection |
24 |
485 |
c
|
CTR169 |
Cataract 29 |
24 |
486 |
|
EYD001 |
Eye Degenerative Disease |
24 |
487 |
c
|
MCL036 |
Macular Degeneration, Age-Related, 6 |
24 |
488 |
c
|
MCR272 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 |
24 |
489 |
c
|
RTN147 |
Retinitis Pigmentosa 48 |
23 |
490 |
c
|
RTN195 |
Retinitis Pigmentosa 79 |
23 |
491 |
c
|
CTR157 |
Cataract 28 |
23 |
492 |
c
|
MCR283 |
Microcephaly and Chorioretinopathy 2 |
23 |
493 |
c
|
CTR158 |
Cataract 37 |
23 |
494 |
|
TRM002 |
Traumatic Glaucoma |
23 |
495 |
|
RTN216 |
Retinitis Pigmentosa 82 with or Without Situs Inversus |
22 |
496 |
c
|
SPR083 |
Sporadic Hemiplegic Migraine |
22 |
497 |
c
|
MCR244 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 |
22 |
498 |
c
|
CTR110 |
Cataract 26, Multiple Types |
22 |
499 |
c
|
ATS169 |
Autosomal Recessive Congenital Stationary Night Blindness |
22 |
500 |
c
|
ATS168 |
Autosomal Dominant Congenital Stationary Night Blindness |
21 |
501 |
c
|
HYP832 |
Hypotrichosis 14 |
21 |
502 |
c
|
PRX089 |
Peroxisome Biogenesis Disorder 10b |
21 |
503 |
c
|
RTN214 |
Retinitis Pigmentosa 81 |
21 |
504 |
c
|
RTN196 |
Retinitis Pigmentosa 78 |
21 |
505 |
c
|
NNP017 |
Nanophthalmos 1 |
21 |
506 |
c
|
MCR350 |
Microphthalmia, Isolated, with Coloboma 5 |
21 |
507 |
|
MLT035 |
Multifocal Choroiditis |
21 |
508 |
c
|
CTR178 |
Cataract 27 |
21 |
509 |
c
|
MCL073 |
Macular Dystrophy, Vitelliform, 1 |
21 |
510 |
c
|
MCL051 |
Macular Degeneration, Age-Related, 12 |
21 |
511 |
P
|
PRM016 |
Primary Optic Atrophy |
21 |
512 |
c
|
CTR128 |
Cataract 33 |
20 |
513 |
c
|
CTR159 |
Cataract 35 |
20 |
514 |
|
TBR012 |
Tuberculous Uveitis |
20 |
515 |
|
MTC217 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
20 |
516 |
|
MCL079 |
Macular Telangiectasia Type 2 |
20 |
517 |
|
SPT020 |
Spatial Visualization, Aptitude for |
20 |
518 |
c
|
MCR210 |
Microphthalmia, Isolated, with Coloboma 7 |
19 |
519 |
c
|
MCR271 |
Microphthalmia, Isolated, with Coloboma 10 |
19 |
520 |
c
|
GLC032 |
Glaucoma, Hereditary |
19 |
521 |
c
|
GLC060 |
Glaucoma 1, Open Angle, G |
19 |
522 |
c
|
CTR190 |
Cataract 49 |
18 |
523 |
|
PRT024 |
Partial Optic Atrophy |
18 |
524 |
|
THY105 |
Thyrocerebroretinal Syndrome |
18 |
525 |
|
ABN001 |
Abnormal Retinal Correspondence |
18 |
526 |
c
|
MCL032 |
Macular Degeneration, Age-Related, 11 |
17 |
527 |
c
|
MCL026 |
Macular Dystrophy, Retinal, 3 |
16 |
528 |
c
|
RTN240 |
Retinitis Pigmentosa 95 |
16 |
529 |
c
|
GLC104 |
Glaucoma 1, Open Angle, O |
16 |
530 |
|
CLL022 |
Collins Pope Syndrome |
16 |
531 |
|
LTR005 |
Lateral Displacement of Eye |
15 |
532 |
|
RTN198 |
Retinal Aplasia |
15 |
533 |
|
APR010 |
Apraxia of Eyelid Opening |
15 |
534 |
|
RTN185 |
Retinal Dysplasia, Primary |
15 |
535 |
|
NGL005 |
Ngly1-Congenital Disorder of Deglycosylation |
14 |
536 |
c
|
OPT071 |
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive |
14 |
537 |
c
|
MCR335 |
Microphthalmia, Isolated, with Coloboma 4 |
14 |
538 |
c
|
MCR284 |
Microcephaly and Chorioretinopathy 3 |
14 |
539 |
P
|
LBR033 |
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy |
14 |
540 |
P
|
FRS017 |
Fraser-Like Syndrome |
14 |
541 |
|
RTN199 |
Retinal Venous Beading |
14 |
542 |
c
|
MCR346 |
Microphthalmia, Isolated, with Coloboma 2 |
14 |
543 |
|
MTP036 |
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy |
13 |
544 |
|
CHL133 |
Cholestasis with Gallstone, Ataxia, and Visual Disturbance |
13 |
545 |
|
TDD001 |
Todd's Paralysis |
13 |
546 |
c
|
MCR338 |
Microphthalmia, Isolated, with Coloboma 1 |
13 |
547 |
c
|
NNP008 |
Nanophthalmos 3 |
13 |
548 |
|
PDT048 |
Pediatric-Onset Glaucoma of Genetic Origin |
13 |
549 |
P
|
RTN220 |
Retinal Ciliopathy |
13 |
550 |
|
RSR001 |
Reese Retinal Dysplasia |
12 |
551 |
c
|
STX006 |
Stxbp1-Related Encephalopathy |
11 |
552 |
|
OPT072 |
Opticocochleodentate Degeneration |
11 |
553 |
|
MYL068 |
Myelinated Optic Nerve Fibers |
11 |
554 |
c
|
ADM003 |
Adamtsl4-Related Eye Disorders |
11 |
555 |
|
OPT073 |
Optic Atrophy--Spastic Paraplegia Syndrome |
10 |
556 |
|
NRP050 |
Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance |
10 |
557 |
|
OPT067 |
Optic Atrophy with Demyelinating Disease of Cns |
10 |
558 |
P
|
OPT029 |
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant |
10 |
559 |
|
ART139 |
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma |
10 |
560 |
c
|
RP6003 |
Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy |
9 |
561 |
c
|
ENC068 |
Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect |
9 |
562 |
|
SPS217 |
Spastic Paraplegia, Optic Atrophy, and Dementia |
9 |
563 |
|
TNT001 |
Tented Eyebrows |
9 |
564 |
|
HYP023 |
Hypersecretion Glaucoma |
9 |
565 |
P
|
MCR048 |
Microcephaly Chorioretinopathy Recessive Form |
9 |
566 |
|
RTN202 |
Retinal Degeneration and Epilepsy |
9 |
567 |
|
LTT009 |
Lattice Degeneration of Retina Leading to Retinal Detachment |
8 |
568 |
|
MCR336 |
Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies |
8 |
569 |
|
RTN204 |
Retinal Telangiectasia and Hypogammaglobulinemia |
8 |
570 |
|
GHS002 |
Ghose Sachdev Kumar Syndrome |
7 |
571 |
|
ALG004 |
Al Gazali Khidr Prem Chandran Syndrome |
7 |
572 |
|
FRN018 |
Frenkel Russe Syndrome |
7 |
573 |
|
CNT006 |
Central Pterygium |
6 |
574 |
|
VSL001 |
Visual Verbal Agnosia |
6 |
575 |
|
TRS032 |
Tristichiasis |
6 |
576 |
|
PGN001 |
Pagon Stephan Syndrome |
6 |
577 |
|
LXT001 |
Luxation of Globe |
6 |
578 |
c
|
CTR008 |
Cataract Congenital Autosomal Dominant |
5 |
579 |
|
EYB006 |
Eyebrow, Whorl in |
5 |
580 |
|
XRD002 |
Xeroderma of Eyelid |
5 |
581 |
|
ECZ001 |
Eczematous Dermatitis of Eyelid |
5 |
582 |
|
DSC002 |
Discoid Lupus Erythematosus of Eyelid |
4 |
583 |
|
HYP045 |
Hypertrichosis of Eyelid |
4 |
584 |
|
SPS224 |
Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal |
4 |
585 |
|
HYP044 |
Hypotrichosis of Eyelid |
4 |
586 |
|
PRP004 |
Peripheral Scars of Retina |
4 |
587 |
|
DYS010 |
Dystrophies Primarily Involving the Retinal Pigment Epithelium |
4 |
588 |
|
GNT168 |
Genetic Congenital Malformation of the Eye with Glaucoma As a Major Feature |
4 |
589 |
|
RRG068 |
Rare Genetic Optic Nerve Disorder |
4 |
590 |
|
ECC013 |
Eccrine Syringofibroadenomatosis with Eyelid Abnormalities |
4 |
591 |
|
RRG051 |
Rare Genetic Retinal Disorder |
3 |
592 |
|
RTN007 |
Retinal Dystrophy in Systemic or Cerebroretinal Lipidoses |
3 |
593 |
|
RRG048 |
Rare Genetic Disorder Involving Multiple Structures of the Eye |
3 |
594 |
P
|
GNT060 |
Genetic Eye Tumor |
3 |
595 |
c
|
RRG044 |
Rare Genetic Tumor |
3 |
596 |
P
|
RRG058 |
Rare Genetic Disorder of the Anterior Segment of the Eye |
3 |
597 |
|
STR110 |
Structural Developmental Eye Defect of Genetic Origin |
3 |
598 |
|
RRC021 |
Rare Central Nervous System and Retinal Vascular Disease |
3 |
599 |
c
|
MCR059 |
Microcephaly with Chorioretinopathy, Autosomal Dominant Form |
3 |
600 |
|
RTN076 |
Retinopathy, Arteriosclerotic |
3 |
601 |
c
|
RTN224 |
Retinal Ciliopathy Due to Mutation in the Rpgr Gene |
3 |
602 |
c
|
RTN226 |
Retinal Ciliopathy Due to Mutation in Usher Gene |
3 |
603 |
c
|
RTN222 |
Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene |
3 |
604 |
c
|
RTN225 |
Retinal Ciliopathy Due to Mutation in the Rpgrip Gene |
3 |
605 |
|
RRG062 |
Rare Genetic Eyelid Malposition Disorder |
3 |
606 |
c
|
RTN221 |
Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene |
3 |
607 |
|
CNG068 |
Congenital Cystic Eye Multiple Ocular and Intracranial Anomalies |
2 |
608 |
|
CNG589 |
Congenital Optic Disc Excavation of Genetic Origin |
2 |
609 |
|
VSL006 |
Visual Pathway and Hypothalamic Glioma, Childhood |
1 |
610 |
P
|
NNN008 |
Noonan Syndrome 1 |
76 |
611 |
c
|
MCP050 |
Mucopolysaccharidosis, Type Ii |
74 |
612 |
P
|
JBR020 |
Joubert Syndrome 1 |
72 |
613 |
|
XRD010 |
Xeroderma Pigmentosum, Variant Type |
72 |
614 |
|
ACR006 |
Aceruloplasminemia |
69 |
615 |
P
|
SPR120 |
Supranuclear Palsy, Progressive, 1 |
69 |
616 |
P
|
GCH001 |
Gaucher's Disease |
68 |
617 |
|
SND001 |
Sandhoff Disease |
68 |
618 |
P
|
KBK002 |
Kabuki Syndrome 1 |
67 |
619 |
P
|
CNG042 |
Congenital Central Hypoventilation Syndrome |
67 |
620 |
|
ATM096 |
Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia |
66 |
621 |
|
MVL001 |
Mevalonic Aciduria |
66 |
622 |
|
ALS001 |
Alstrom Syndrome |
66 |
623 |
|
NVS017 |
Nevus, Epidermal |
65 |
624 |
P
|
CNG001 |
Congenital Myasthenic Syndrome |
65 |
625 |
P
|
LKD017 |
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism |
63 |
626 |
|
GRG001 |
Greig Cephalopolysyndactyly Syndrome |
63 |
627 |
P
|
FRD001 |
Friedreich Ataxia |
62 |
628 |
|
CHN055 |
Chanarin-Dorfman Syndrome |
62 |
629 |
|
MYP136 |
Myopathy, Centronuclear, X-Linked |
62 |
630 |
c
|
CNT119 |
Central Hypoventilation Syndrome, Congenital, 1 |
62 |
631 |
P
|
NRB001 |
Neuroblastoma |
62 |
632 |
c
|
SHR074 |
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly |
61 |
633 |
|
MSL001 |
Measles |
61 |
634 |
P
|
SHR072 |
Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly |
61 |
635 |
P
|
SPN301 |
Spinocerebellar Ataxia 2 |
61 |
636 |
|
VSC063 |
Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations |
61 |
637 |
|
GYR004 |
Gyrate Atrophy of Choroid and Retina |
60 |
638 |
|
IMM140 |
Immunodeficiency 47 |
59 |
639 |
|
CRT002 |
Cartilage-Hair Hypoplasia |
59 |
640 |
|
DFN344 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome |
59 |
641 |
|
FRB001 |
Farber Lipogranulomatosis |
59 |
642 |
|
MLN014 |
Melnick-Needles Syndrome |
59 |
643 |
P
|
CTS001 |
Cutis Laxa |
57 |
644 |
c
|
SHR069 |
Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly |
57 |
645 |
c
|
SHR075 |
Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly |
57 |
646 |
P
|
ADM011 |
Adams-Oliver Syndrome |
57 |
647 |
c
|
CCK007 |
Cockayne Syndrome B |
57 |
648 |
c
|
CTS045 |
Cutis Laxa, Autosomal Dominant 1 |
57 |
649 |
c
|
SPN207 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
57 |
650 |
|
PPL025 |
Popliteal Pterygium Syndrome |
56 |
651 |
P
|
GNR002 |
Generalized Epilepsy with Febrile Seizures Plus |
56 |
652 |
c
|
SPN294 |
Spinocerebellar Ataxia 1 |
56 |
653 |
|
KRT002 |
Keratomalacia |
56 |
654 |
c
|
CRD259 |
Ceroid Lipofuscinosis, Neuronal, 6a |
55 |
655 |
|
PLS030 |
Plasminogen Deficiency, Type I |
55 |
656 |
|
CHR101 |
Char Syndrome |
55 |
657 |
P
|
RHZ001 |
Rhizomelic Chondrodysplasia Punctata |
54 |
658 |
|
CLB010 |
Coloboma of Macula |
54 |
659 |
|
ACR058 |
Acrofacial Dysostosis 1, Nager Type |
54 |
660 |
|
OPT066 |
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy |
52 |
661 |
c
|
GCH016 |
Gaucher Disease, Type Ii |
52 |
662 |
c
|
ICH069 |
Ichthyosis, Congenital, Autosomal Recessive 4b |
52 |
663 |
|
SCL046 |
Scalp-Ear-Nipple Syndrome |
52 |
664 |
|
DNR002 |
Duane-Radial Ray Syndrome |
52 |
665 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
52 |
666 |
|
MBS002 |
Moebius Syndrome |
52 |
667 |
c
|
NNN010 |
Noonan Syndrome 3 |
52 |
668 |
P
|
NGH001 |
Night Blindness |
52 |
669 |
|
SCH068 |
Schwartz-Jampel Syndrome, Type 1 |
52 |
670 |
|
CLB017 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome |
51 |
671 |
c
|
SPN311 |
Spinocerebellar Ataxia 13 |
51 |
672 |
P
|
CRB194 |
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 |
51 |
673 |
P
|
KRT028 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
51 |
674 |
P
|
CRN028 |
Corneal Ulcer |
51 |
675 |
|
BLP005 |
Blepharitis |
51 |
676 |
c
|
SHR068 |
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly |
51 |
677 |
c
|
MCR251 |
Microphthalmia, Syndromic 6 |
50 |
678 |
c
|
SHR063 |
Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly |
50 |
679 |
|
CRD002 |
Cri-Du-Chat Syndrome |
50 |
680 |
c
|
SPN100 |
Spinocerebellar Ataxia 27 |
50 |
681 |
c
|
JBR004 |
Joubert Syndrome 2 |
50 |
682 |
P
|
VTR007 |
Vitreoretinopathy |
49 |
683 |
c
|
SPN296 |
Spinocerebellar Ataxia 17 |
49 |
684 |
c
|
NNN028 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 |
49 |
685 |
c
|
SPN308 |
Spinocerebellar Ataxia 28 |
49 |
686 |
c
|
GNR039 |
Generalized Epilepsy with Febrile Seizures Plus, Type 2 |
49 |
687 |
c
|
JBR012 |
Joubert Syndrome 5 |
48 |
688 |
c
|
DSB006 |
Desbuquois Dysplasia 1 |
48 |
689 |
c
|
SPN305 |
Spinocerebellar Ataxia 11 |
48 |
690 |
c
|
MYS055 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
48 |
691 |
c
|
JBR013 |
Joubert Syndrome 8 |
48 |
692 |
c
|
SPN304 |
Spinocerebellar Ataxia 8 |
48 |
693 |
c
|
SPN293 |
Spinocerebellar Ataxia 12 |
48 |
694 |
|
CHR008 |
Choroiditis |
47 |
695 |
c
|
SPN312 |
Spinocerebellar Ataxia 14 |
47 |
696 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
47 |
697 |
c
|
GNR043 |
Generalized Epilepsy with Febrile Seizures Plus, Type 7 |
47 |
698 |
c
|
SHR066 |
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly |
47 |
699 |
c
|
ATS392 |
Autosomal Recessive Cutis Laxa Type Iii |
47 |
700 |
|
RTN023 |
Retinitis |
47 |
701 |
c
|
JBR025 |
Joubert Syndrome 17 |
47 |
702 |
c
|
CTS037 |
Cutis Laxa, Autosomal Recessive, Type Ib |
47 |
703 |
c
|
JBR024 |
Joubert Syndrome 14 |
47 |
704 |
c
|
ATS393 |
Autosomal Recessive Cutis Laxa Type I |
46 |
705 |
c
|
SPN314 |
Spinocerebellar Ataxia 10 |
46 |
706 |
c
|
SPN201 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
46 |
707 |
|
ACR012 |
Aicardi Syndrome |
46 |
708 |
c
|
JBR035 |
Joubert Syndrome 24 |
46 |
709 |
c
|
JBR043 |
Joubert Syndrome 32 |
46 |
710 |
c
|
JBR031 |
Joubert Syndrome 21 |
46 |
711 |
c
|
SPN288 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
46 |
712 |
|
OLV004 |
Oliver-Mcfarlane Syndrome |
46 |
713 |
c
|
SPN214 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
46 |
714 |
c
|
RHZ014 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
45 |
715 |
c
|
JBR022 |
Joubert Syndrome 20 |
45 |
716 |
|
MCR216 |
Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation |
45 |
717 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
45 |
718 |
c
|
JBR011 |
Joubert Syndrome 7 |
45 |
719 |
c
|
SPS158 |
Spastic Paraplegia 9a, Autosomal Dominant |
45 |
720 |
c
|
CTS023 |
Cutis Laxa, Autosomal Recessive, Type Iib |
45 |
721 |
c
|
MYS068 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
45 |
722 |
c
|
SPN104 |
Spinocerebellar Ataxia 34 |
45 |
723 |
|
ORB013 |
Orbital Disease |
44 |
724 |
c
|
SPN101 |
Spinocerebellar Ataxia 29 |
44 |
725 |
c
|
SPN286 |
Spinocerebellar Ataxia 40 |
44 |
726 |
|
FNT005 |
Fontaine Progeroid Syndrome |
44 |
727 |
c
|
SPN273 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
44 |
728 |
c
|
SPN284 |
Spinocerebellar Ataxia 38 |
44 |
729 |
c
|
SPN097 |
Spinocerebellar Ataxia 23 |
44 |
730 |
c
|
SHR064 |
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly |
44 |
731 |
c
|
SPN261 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
44 |
732 |
c
|
SPN266 |
Spinocerebellar Ataxia 35 |
44 |
733 |
c
|
SPN298 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
44 |
734 |
c
|
JBR026 |
Joubert Syndrome 15 |
44 |
735 |
c
|
NNN009 |
Noonan Syndrome 2 |
44 |
736 |
c
|
JBR042 |
Joubert Syndrome 23 |
44 |
737 |
c
|
SPN290 |
Spinocerebellar Ataxia 15 |
44 |
738 |
P
|
NNN037 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair |
44 |
739 |
P
|
OCL001 |
Ocular Albinism |
43 |
740 |
P
|
DCR003 |
Dacryoadenitis |
43 |
741 |
P
|
CLD003 |
Cold-Induced Sweating Syndrome |
43 |
742 |
c
|
SHR067 |
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly |
43 |
743 |
c
|
SHR070 |
Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly |
43 |
744 |
c
|
JBR016 |
Joubert Syndrome 10 |
43 |
745 |
c
|
MYS052 |
Myasthenic Syndrome, Congenital, 10 |
43 |
746 |
c
|
SHR071 |
Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly |
43 |
747 |
|
RBF003 |
Riboflavin Transporter Deficiency |
43 |
748 |
c
|
SPN247 |
Spinocerebellar Ataxia Type 19/22 |
43 |
749 |
|
PHT008 |
Photosensitive Epilepsy |
42 |
750 |
c
|
SPN325 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
42 |
751 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
42 |
752 |
c
|
SPN105 |
Spinocerebellar Ataxia 4 |
42 |
753 |
c
|
SPN377 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
42 |
754 |
c
|
NNN012 |
Noonan Syndrome 5 |
42 |
755 |
c
|
SPN265 |
Spinocerebellar Ataxia 36 |
42 |
756 |
c
|
ADM005 |
Adams-Oliver Syndrome 1 |
42 |
757 |
|
MCL003 |
Macular Holes |
42 |
758 |
|
OCL020 |
Ocular Cicatricial Pemphigoid |
42 |
759 |
|
3MC002 |
3mc Syndrome 1 |
42 |
760 |
c
|
MYS075 |
Myasthenic Syndrome, Congenital, 13 |
41 |
761 |
c
|
MCR137 |
Microphthalmia, Isolated 2 |
41 |
762 |
c
|
MYS074 |
Myasthenic Syndrome, Congenital, 12 |
41 |
763 |
|
CLR133 |
Colorblindness, Partial, Protan Series |
41 |
764 |
c
|
MYS076 |
Myasthenic Syndrome, Congenital, 8 |
41 |
765 |
c
|
NRB010 |
Neuroblastoma 1 |
41 |
766 |
c
|
ORT011 |
Orthostatic Hypotension 1 |
41 |
767 |
c
|
GNR038 |
Generalized Epilepsy with Febrile Seizures Plus, Type 1 |
41 |
768 |
|
XRP001 |
Xerophthalmia |
41 |
769 |
c
|
SPN096 |
Spinocerebellar Ataxia 21 |
41 |
770 |
P
|
HYP087 |
Hypotrichosis |
40 |
771 |
P
|
BRT062 |
Bartsocas-Papas Syndrome 1 |
40 |
772 |
c
|
NNN021 |
Noonan Syndrome 8 |
40 |
773 |
c
|
JBR015 |
Joubert Syndrome 6 |
40 |
774 |
c
|
MYS078 |
Myasthenic Syndrome, Congenital, 14 |
40 |
775 |
c
|
NNN011 |
Noonan Syndrome 4 |
40 |
776 |
c
|
SPN264 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
40 |
777 |
c
|
JBR030 |
Joubert Syndrome 22 |
40 |
778 |
c
|
SPN103 |
Spinocerebellar Ataxia 31 |
40 |
779 |
|
BRT046 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
40 |
780 |
c
|
HYP581 |
Hypotrichosis 6 |
40 |
781 |
P
|
LCR008 |
Lacrimal Apparatus Disease |
39 |
782 |
P
|
CNG629 |
Congenital Disorder of Deglycosylation 1 |
39 |
783 |
|
GNT006 |
Giant Papillary Conjunctivitis |
39 |
784 |
c
|
JBR028 |
Joubert Syndrome 13 |
39 |
785 |
c
|
JBR037 |
Joubert Syndrome 26 |
39 |
786 |
c
|
LKD018 |
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism |
39 |
787 |
c
|
JBR027 |
Joubert Syndrome 16 |
39 |
788 |
|
ENP001 |
Enophthalmos |
39 |
789 |
c
|
SPN258 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
39 |
790 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
39 |
791 |
c
|
SPN419 |
Spinocerebellar Ataxia 45 |
39 |
792 |
c
|
NNN020 |
Noonan Syndrome 7 |
38 |
793 |
c
|
RHZ015 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
38 |
794 |
P
|
PRS124 |
Presynaptic Congenital Myasthenic Syndromes |
38 |
795 |
|
DBT007 |
Diabetic Cataract |
38 |
796 |
c
|
MYS067 |
Myasthenic Syndrome, Congenital, 22 |
38 |
797 |
c
|
SPN381 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
38 |
798 |
c
|
SPN272 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
38 |
799 |
P
|
DCR004 |
Dacryocystitis |
38 |
800 |
|
HYP008 |
Hypertensive Retinopathy |
38 |
801 |
|
BLP006 |
Blepharoconjunctivitis |
37 |
802 |
c
|
JBR036 |
Joubert Syndrome 25 |
37 |
803 |
c
|
SPN102 |
Spinocerebellar Ataxia 30 |
37 |
804 |
P
|
CRN233 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
37 |
805 |
|
STR113 |
Strabismic Amblyopia |
37 |
806 |
|
TLC001 |
Telecanthus |
37 |
807 |
c
|
JBR021 |
Joubert Syndrome 18 |
37 |
808 |
c
|
SHR083 |
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly |
37 |
809 |
|
EPT025 |
Epithelial Basement Membrane Dystrophy |
37 |
810 |
c
|
SPN418 |
Spinocerebellar Ataxia 44 |
37 |
811 |
P
|
CNG041 |
Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
36 |
812 |
|
AKN002 |
Akinetic Mutism |
36 |
813 |
c
|
NNN025 |
Noonan Syndrome 10 |
36 |
814 |
c
|
JBR040 |
Joubert Syndrome 30 |
36 |
815 |
c
|
HYP507 |
Hypotrichosis 1 |
36 |
816 |
|
LMB050 |
Limbal Stem Cell Deficiency |
36 |
817 |
c
|
MYS070 |
Myasthenic Syndrome, Congenital, 19 |
36 |
818 |
c
|
SPN384 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
36 |
819 |
|
RHY001 |
Rhyns Syndrome |
36 |
820 |
c
|
NNN013 |
Noonan Syndrome 6 |
36 |
821 |
P
|
LNS003 |
Lens Disease |
36 |
822 |
|
VTR005 |
Vitreous Disease |
35 |
823 |
c
|
KBK003 |
Kabuki Syndrome 2 |
35 |
824 |
|
UVL010 |
Uveal Disease |
35 |
825 |
|
PST086 |
Posterior Cortical Atrophy |
35 |
826 |
c
|
JBR045 |
Joubert Syndrome 33 |
35 |
827 |
c
|
SPN383 |
Spinocerebellar Ataxia 42 |
35 |
828 |
c
|
ATP003 |
Atp6v0a2-Related Cutis Laxa |
35 |
829 |
c
|
SPN299 |
Spinocerebellar Ataxia 20 |
35 |
830 |
|
ENT010 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
35 |
831 |
c
|
SPN095 |
Spinocerebellar Ataxia 19 |
35 |
832 |
c
|
SPN098 |
Spinocerebellar Ataxia 25 |
35 |
833 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
35 |
834 |
c
|
SPN427 |
Spinocerebellar Ataxia 48 |
35 |
835 |
c
|
NNN027 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 |
34 |
836 |
P
|
DSB002 |
Desbuquois Dysplasia |
34 |
837 |
|
SLF015 |
Self-Improving Collodion Baby |
34 |
838 |
c
|
MYS064 |
Myasthenic Syndrome, Congenital, 16 |
34 |
839 |
|
SPN450 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis |
34 |
840 |
c
|
SPN094 |
Spinocerebellar Ataxia 18 |
34 |
841 |
|
PST063 |
Postsynaptic Congenital Myasthenic Syndromes |
34 |
842 |
c
|
ADM007 |
Adams-Oliver Syndrome 2 |
34 |
843 |
c
|
JBR014 |
Joubert Syndrome 9 |
34 |
844 |
c
|
HYP577 |
Hypotrichosis 13 |
34 |
845 |
c
|
SPN376 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
34 |
846 |
c
|
NNN024 |
Noonan Syndrome 9 |
33 |
847 |
c
|
NNN034 |
Noonan Syndrome 12 |
33 |
848 |
c
|
GNR034 |
Generalized Epilepsy with Febrile Seizures Plus, Type 9 |
33 |
849 |
|
CNG462 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
33 |
850 |
c
|
SPN292 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
33 |
851 |
c
|
ADM010 |
Adams-Oliver Syndrome 5 |
33 |
852 |
|
LKC002 |
Leukocoria |
33 |
853 |
c
|
MYS077 |
Myasthenic Syndrome, Congenital, 15 |
33 |
854 |
|
PSD008 |
Pseudopapilledema |
33 |
855 |
|
HRD037 |
Hardikar Syndrome |
33 |
856 |
c
|
MYS069 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
33 |
857 |
c
|
HYP576 |
Hypotrichosis 4 |
33 |
858 |
|
GLC001 |
Glaucomatocyclitic Crisis |
33 |
859 |
c
|
NRB015 |
Neuroblastoma 2 |
32 |
860 |
c
|
CTR111 |
Cataract 36 |
32 |
861 |
c
|
KRT078 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
32 |
862 |
c
|
NNN036 |
Noonan Syndrome 13 |
31 |
863 |
c
|
SPN295 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
31 |
864 |
c
|
SHR104 |
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly |
31 |
865 |
|
SCR039 |
Scorpion Envenomation |
31 |
866 |
c
|
SPN431 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
31 |
867 |
c
|
DSB005 |
Desbuquois Dysplasia 2 |
31 |
868 |
c
|
CTS048 |
Cutis Laxa, Autosomal Recessive, Type Iie |
31 |
869 |
c
|
MNS014 |
Monosomy 22 |
30 |
870 |
c
|
JBR039 |
Joubert Syndrome 28 |
30 |
871 |
c
|
MCR392 |
Microphthalmia, Syndromic 16 |
30 |
872 |
c
|
MYS065 |
Myasthenic Syndrome, Congenital, 18 |
30 |
873 |
c
|
NNN029 |
Noonan Syndrome 11 |
30 |
874 |
|
CLR132 |
Colorblindness, Partial, Deutan Series |
30 |
875 |
c
|
FRD006 |
Friedreich Ataxia 2 |
30 |
876 |
|
NSL017 |
Nasolacrimal Duct Cyst |
29 |
877 |
c
|
ACT047 |
Acute Endophthalmitis |
29 |
878 |
c
|
SPN372 |
Spinocerebellar Ataxia 43 |
29 |
879 |
|
ATP013 |
Atopic Keratoconjunctivitis |
29 |
880 |
|
KRT079 |
Keratosis Pilaris Atrophicans Faciei |
29 |
881 |
|
XLN232 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
29 |
882 |
|
PLL004 |
Pallister W Syndrome |
28 |
883 |
c
|
NRB014 |
Neuroblastoma 3 |
28 |
884 |
c
|
SPN313 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
28 |
885 |
c
|
SPN421 |
Spinocerebellar Ataxia 47 |
28 |
886 |
c
|
HYP528 |
Hypotrichosis 11 |
28 |
887 |
|
KRT057 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
28 |
888 |
|
MNC001 |
Monocular Esotropia |
28 |
889 |
c
|
MYP127 |
Myopia 2, Autosomal Dominant |
28 |
890 |
c
|
SHR115 |
Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly |
28 |
891 |
|
DPR017 |
Deprivation Amblyopia |
27 |
892 |
c
|
GNR040 |
Generalized Epilepsy with Febrile Seizures Plus, Type 4 |
27 |
893 |
|
PRL006 |
Paralytic Lagophthalmos |
27 |
894 |
|
ISL011 |
Isolated Aniridia |
27 |
895 |
c
|
MYS056 |
Myasthenic Syndrome, Congenital, 17 |
27 |
896 |
c
|
SHR129 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
27 |
897 |
c
|
ADM009 |
Adams-Oliver Syndrome 4 |
27 |
898 |
c
|
JBR044 |
Joubert Syndrome 31 |
27 |
899 |
c
|
SPN451 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
27 |
900 |
|
HYP048 |
Hypotropia |
27 |
901 |
c
|
HYP578 |
Hypotrichosis 12 |
27 |
902 |
c
|
MYS082 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
27 |
903 |
c
|
SHR101 |
Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly |
27 |
904 |
c
|
SPN420 |
Spinocerebellar Ataxia 46 |
26 |
905 |
c
|
SPN458 |
Spinocerebellar Ataxia 49 |
26 |
906 |
c
|
SPN323 |
Spinocerebellar Ataxia 41 |
26 |
907 |
c
|
ADM012 |
Adams-Oliver Syndrome 6 |
26 |
908 |
c
|
SPN455 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
26 |
909 |
c
|
JBR049 |
Joubert Syndrome 37 |
26 |
910 |
|
NDL008 |
Nodular Episcleritis |
26 |
911 |
c
|
CTR166 |
Cataract 33, Multiple Types |
26 |
912 |
|
CRN267 |
Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation |
26 |
913 |
c
|
CTR097 |
Cataract 34, Multiple Types |
26 |
914 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
25 |
915 |
c
|
SPN254 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
25 |
916 |
|
PHC015 |
Phacoanaphylactic Uveitis |
25 |
917 |
c
|
MYP138 |
Myopia 3, Autosomal Dominant |
25 |
918 |
|
SCL011 |
Sclerosing Keratitis |
25 |
919 |
|
HRD019 |
Hereditary Choroidal Atrophy |
25 |
920 |
c
|
CNG630 |
Congenital Disorder of Deglycosylation 2 |
25 |
921 |
c
|
MYS084 |
Myasthenic Syndrome, Congenital, 7b, Presynaptic, Autosomal Recessive |
25 |
922 |
|
CNG005 |
Congenital Aphakia |
25 |
923 |
c
|
GNR046 |
Generalized Epilepsy with Febrile Seizures Plus, Type 10 |
25 |
924 |
c
|
NGH030 |
Night Blindness, Congenital Stationary, Type 1f |
24 |
925 |
c
|
SPN375 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
24 |
926 |
c
|
MNS008 |
Monosomy 21 |
24 |
927 |
|
MRN005 |
Marie Unna Congenital Hypotrichosis |
24 |
928 |
c
|
JBR047 |
Joubert Syndrome 35 |
24 |
929 |
P
|
PRM227 |
Primary Orthostatic Hypotension |
24 |
930 |
c
|
NNN038 |
Noonan Syndrome 14 |
24 |
931 |
c
|
JBR038 |
Joubert Syndrome 27 |
24 |
932 |
|
TTR019 |
Tetrasomy 5p |
24 |
933 |
|
CGN001 |
Cogan-Reese Syndrome |
24 |
934 |
c
|
SPN440 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
24 |
935 |
c
|
ADM008 |
Adams-Oliver Syndrome 3 |
24 |
936 |
|
SHR065 |
Short Stature with Microcephaly and Distinctive Facies |
24 |
937 |
|
MND027 |
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia |
24 |
938 |
|
CRN004 |
Corneal Abscess |
24 |
939 |
c
|
JBR050 |
Joubert Syndrome 38 |
24 |
940 |
c
|
MTC074 |
Metachromatic Leukodystrophy, Adult Form |
24 |
941 |
c
|
NYS016 |
Nystagmus 7, Congenital, Autosomal Dominant |
23 |
942 |
|
ISL145 |
Isolated Macular Dystrophy |
23 |
943 |
|
SCL008 |
Scleromalacia Perforans |
23 |
944 |
c
|
CHR060 |
Chronic Dacryocystitis |
23 |
945 |
|
MTC169 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
23 |
946 |
c
|
JBR048 |
Joubert Syndrome 36 |
23 |
947 |
c
|
GNR013 |
Generalized Epilepsy with Febrile Seizures Plus, Type 6 |
23 |
948 |
|
KRT020 |
Keratoconus Posticus Circumscriptus |
23 |
949 |
c
|
SPN452 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
23 |
950 |
c
|
BRT063 |
Bartsocas-Papas Syndrome 2 |
23 |
951 |
c
|
MYS081 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
23 |
952 |
|
CRP036 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
23 |
953 |
c
|
CRN143 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
23 |
954 |
c
|
JBR051 |
Joubert Syndrome 39 |
23 |
955 |
c
|
CRB168 |
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 |
22 |
956 |
c
|
CLD017 |
Cold-Induced Sweating Syndrome 3 |
22 |
957 |
|
BRD008 |
Borderline Glaucoma |
22 |
958 |
c
|
SPN378 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
22 |
959 |
c
|
MNS011 |
Monosomy 9q22.3 |
22 |
960 |
|
NTH002 |
Nathalie Syndrome |
22 |
961 |
c
|
SPN459 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
22 |
962 |
c
|
JBR052 |
Joubert Syndrome 40 |
22 |
963 |
c
|
ACT037 |
Acute Dacryocystitis |
22 |
964 |
|
ERY043 |
Euryblepharon |
22 |
965 |
c
|
ORT012 |
Orthostatic Hypotension 2 |
21 |
966 |
c
|
CRN318 |
Corneal Dystrophy, Meesmann, 2 |
21 |
967 |
|
DST044 |
Distal Trisomy 14q |
21 |
968 |
c
|
MYP146 |
Myopia 15, Autosomal Dominant |
21 |
969 |
|
GRW033 |
Growth Retardation, Small and Puffy Hands and Feet, and Eczema |
21 |
970 |
c
|
HYP573 |
Hypotrichosis 5 |
20 |
971 |
c
|
VCN001 |
Vcan-Related Vitreoretinopathy |
20 |
972 |
c
|
MYS080 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
20 |
973 |
c
|
SPN259 |
Spinocerebellar Ataxia 32 |
20 |
974 |
c
|
CTR139 |
Cataract 42 |
20 |
975 |
|
CYC003 |
Cyclotropia |
20 |
976 |
c
|
MYP141 |
Myopia 5, Autosomal Dominant |
20 |
977 |
c
|
SLV022 |
Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 |
20 |
978 |
P
|
ASP028 |
Asperger Syndrome, X-Linked 1 |
20 |
979 |
|
PSD103 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies |
20 |
980 |
c
|
ADL084 |
Adult-Onset Myasthenia Gravis |
20 |
981 |
P
|
STR111 |
Stromal Corneal Dystrophy |
20 |
982 |
c
|
JVN038 |
Juvenile Myasthenia Gravis |
20 |
983 |
P
|
MYP137 |
Myopia 1, X-Linked |
20 |
984 |
c
|
ACQ027 |
Acquired Cutis Laxa |
20 |
985 |
|
MCR317 |
Macrophthalmia, Colobomatous, with Microcornea |
20 |
986 |
|
HMF007 |
Hemifacial Hyperplasia with Strabismus |
20 |
987 |
c
|
ASP029 |
Asperger Syndrome, X-Linked 2 |
19 |
988 |
c
|
SPR049 |
Supranuclear Palsy, Progressive, 2 |
19 |
989 |
c
|
NYS012 |
Nystagmus 5, Congenital, X-Linked |
19 |
990 |
c
|
MYP140 |
Myopia 17, Autosomal Dominant |
19 |
991 |
|
MNF001 |
Monofixation Syndrome |
19 |
992 |
c
|
LTB003 |
Ltbp4-Related Cutis Laxa |
19 |
993 |
c
|
CNT121 |
Central Hypoventilation Syndrome, Congenital, 3 |
19 |
994 |
|
OPH014 |
Ophthalmomandibulomelic Dysplasia |
19 |
995 |
c
|
ACQ002 |
Acquired Night Blindness |
19 |
996 |
c
|
MYP044 |
Myopia 10 |
19 |
997 |
P
|
ATS469 |
Autosomal Monosomy |
19 |
998 |
|
BTT011 |
Butterfly-Shaped Pigment Dystrophy |
19 |
999 |
c
|
CHR088 |
Chronic Inflammation of Lacrimal Passage |
18 |
1000 |
c
|
CNT026 |
Central Corneal Ulcer |
18 |
1001 |
c
|
CRN218 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
18 |
1002 |
c
|
FBL003 |
Fbln5-Related Cutis Laxa |
18 |
1003 |
c
|
MYP144 |
Myopia 12, Autosomal Dominant |
18 |
1004 |
|
ACR078 |
Acral Self-Healing Collodion Baby |
18 |
1005 |
|
PRD026 |
Pre-Descemet Corneal Dystrophy |
18 |
1006 |
c
|
KRT053 |
Keratoconus 7 |
18 |
1007 |
c
|
GNR042 |
Generalized Epilepsy with Febrile Seizures Plus, Type 8 |
17 |
1008 |
|
PRG117 |
Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome |
17 |
1009 |
|
BRW005 |
Brawny Scleritis |
17 |
1010 |
|
ATR084 |
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects |
17 |
1011 |
|
ESS005 |
Essential Iris Atrophy |
17 |
1012 |
c
|
NNN032 |
Non-Infectious Posterior Uveitis |
17 |
1013 |
c
|
MYP040 |
Myopia 7 |
17 |
1014 |
c
|
MYP048 |
Myopia 9 |
17 |
1015 |
c
|
CNG621 |
Congenital Myasthenic Syndrome 7 |
17 |
1016 |
|
RDL029 |
Radial Ray Hypoplasia with Choanal Atresia |
17 |
1017 |
|
CRY037 |
Cryptophthalmia |
17 |
1018 |
c
|
NGL006 |
Ngly1-Related Congenital Disorder of Deglycosylation |
17 |
1019 |
c
|
MYP041 |
Myopia 8 |
17 |
1020 |
c
|
MYP133 |
Myopia 18, Autosomal Recessive |
17 |
1021 |
|
ORB003 |
Orbital Tenonitis |
17 |
1022 |
|
HRP038 |
Herpes Simplex Virus Stromal Keratitis |
16 |
1023 |
c
|
SPN107 |
Spinocerebellar Ataxia 9 |
16 |
1024 |
c
|
ACT030 |
Acute Dacryoadenitis |
16 |
1025 |
|
NMN008 |
Niemann-Pick Disease Type C, Severe Perinatal Form |
16 |
1026 |
c
|
JVN036 |
Juvenile Sialidosis Type 2 |
16 |
1027 |
c
|
CHR035 |
Chronic Dacryoadenitis |
16 |
1028 |
c
|
MYP069 |
Myopia 14 |
16 |
1029 |
|
APP006 |
Apperceptive Agnosia |
16 |
1030 |
c
|
MYP147 |
Myopia 19, Autosomal Dominant |
16 |
1031 |
|
ERL040 |
Early-Onset Sutural Cataract |
16 |
1032 |
c
|
MYP143 |
Myopia 11, Autosomal Dominant |
15 |
1033 |
c
|
HYP551 |
Hypotrichosis 9 |
15 |
1034 |
P
|
ACT070 |
Acute Inflammation of Lacrimal Passage |
15 |
1035 |
c
|
HYP544 |
Hypotrichosis 10 |
15 |
1036 |
P
|
LGB001 |
Leg Absence Deformity Cataract |
15 |
1037 |
|
PRX083 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
15 |
1038 |
c
|
MYP145 |
Myopia 16, Autosomal Dominant |
15 |
1039 |
c
|
NRB012 |
Neuroblastoma 5 |
15 |
1040 |
c
|
NRB016 |
Neuroblastoma 7 |
14 |
1041 |
|
ETH013 |
Euthyroid Graves Orbitopathy |
14 |
1042 |
|
MLT117 |
Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus |
14 |
1043 |
|
CNG335 |
Congenital Ectropion Uveae |
14 |
1044 |
c
|
ELN002 |
Eln-Related Cutis Laxa |
14 |
1045 |
c
|
MYP134 |
Myopia 13, X-Linked |
14 |
1046 |
c
|
EFM001 |
Efemp2-Related Cutis Laxa |
13 |
1047 |
|
TRP011 |
Triopia |
13 |
1048 |
|
PLZ009 |
Pelizaeus-Merzbacher Disease in Female Carriers |
13 |
1049 |
|
ACT168 |
Acute Annular Outer Retinopathy |
13 |
1050 |
|
SPR147 |
Superficial Corneal Dystrophy |
13 |
1051 |
c
|
NRB011 |
Neuroblastoma 4 |
13 |
1052 |
|
ERL036 |
Early-Onset Posterior Subcapsular Cataract |
13 |
1053 |
|
CLF040 |
Cleft Lip-Retinopathy Syndrome |
12 |
1054 |
|
ORB018 |
Orbital Leiomyoma |
12 |
1055 |
|
TXN001 |
Toxin-Mediated Infectious Botulism |
12 |
1056 |
|
IDP036 |
Idiopathic Bilateral Vestibulopathy |
12 |
1057 |
c
|
NRB013 |
Neuroblastoma 6 |
12 |
1058 |
|
ISL131 |
Isolated Foveal Hypoplasia |
12 |
1059 |
c
|
LGB002 |
Leg, Absence Deformity of, with Congenital Cataract |
11 |
1060 |
c
|
CTD001 |
Ctdp1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
11 |
1061 |
|
PTS015 |
Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome |
11 |
1062 |
P
|
CNG595 |
Congenital Alacrima |
11 |
1063 |
c
|
MYP084 |
Myopia 20, Autosomal Dominant |
11 |
1064 |
|
SCL005 |
Scleroperikeratitis |
11 |
1065 |
c
|
ALC031 |
Alacrima, Congenital, Autosomal Dominant |
10 |
1066 |
|
3Q2004 |
3q26 Microduplication Syndrome |
10 |
1067 |
|
OCL054 |
Ocular Motor Apraxia, Cogan Type |
10 |
1068 |
|
MNM005 |
Minimal Pigment Oculocutaneous Albinism Type 1 |
10 |
1069 |
|
SGL001 |
Siegler Brewer Carey Syndrome |
10 |
1070 |
c
|
SCN085 |
Secondary Ectropion |
9 |
1071 |
|
INV017 |
Inverse Marcus-Gunn Phenomenon |
9 |
1072 |
|
NBL002 |
Noble Bass Sherman Syndrome |
9 |
1073 |
c
|
FML317 |
Familial Monosomy 7 Syndrome |
9 |
1074 |
|
ISL071 |
Isolated Congenital Ectropion |
9 |
1075 |
c
|
SPR048 |
Supranuclear Palsy, Progressive, 3 |
9 |
1076 |
|
NYS018 |
Nystagmus, Voluntary |
9 |
1077 |
c
|
ALC032 |
Alacrima, Congenital, Autosomal Recessive |
9 |
1078 |
c
|
PSD023 |
Pseudo-Gaucher Disease |
9 |
1079 |
|
OKH002 |
Okihiro Syndrome Due to 20q13 Microdeletion |
8 |
1080 |
|
HRM024 |
Hermansky-Pudlak Syndrome Due to Ap-3 Deficiency |
8 |
1081 |
P
|
LTN030 |
Late-Onset Steinert Myotonic Dystrophy |
8 |
1082 |
|
SYN127 |
Syndromic Ectopia Lentis |
8 |
1083 |
|
LNS002 |
Lens-Induced Iridocyclitis |
8 |
1084 |
|
LCR016 |
Lacrimal Drainage System Anomaly |
7 |
1085 |
|
MCH005 |
Mechanical Lagophthalmos |
7 |
1086 |
c
|
TYS003 |
Tay-Sachs Disease, B Variant, Juvenile Form |
7 |
1087 |
|
SYN150 |
Syndromic Cataract |
7 |
1088 |
|
PRG012 |
Progressive Peripheral Pterygium |
7 |
1089 |
|
OCL075 |
Oculocutaneous or Ocular Albinism |
7 |
1090 |
|
EPS002 |
Episcleritis Periodica Fugax |
6 |
1091 |
|
GRY003 |
Grayson-Wilbrandt Corneal Dystrophy |
6 |
1092 |
c
|
KLH009 |
Klhl7-Related Cold-Induced Sweating-Like Syndrome |
6 |
1093 |
|
ERL041 |
Early-Onset Zonular Cataract |
6 |
1094 |
|
NLX006 |
Neu-Laxova Syndrome Due to 3-Phosphoglycerate Dehydrogenase Deficiency |
6 |
1095 |
|
SYN148 |
Syndromic Aniridia |
6 |
1096 |
c
|
GRD008 |
Grid2-Related Spinocerebellar Ataxia |
6 |
1097 |
c
|
TTL014 |
Total Autosomal Monosomy |
6 |
1098 |
|
INT586 |
Intellectual Disability-Early-Onset Cataract-Microcephaly Syndrome |
6 |
1099 |
|
NLX008 |
Neu-Laxova Syndrome Due to 3-Phosphoserine Phosphatase Deficiency |
5 |
1100 |
c
|
RRD060 |
Rare Disorder of the Lacrimal Apparatus |
5 |
1101 |
|
ISL130 |
Isolated Congenital Entropion |
5 |
1102 |
|
SYN143 |
Syndromic Telecanthus |
4 |
1103 |
|
SCR032 |
Scarring in Glaucoma Filtration Surgical Procedures |
4 |
1104 |
|
ISL132 |
Isolated Megalopapilla |
4 |
1105 |
c
|
SYS075 |
Systemic Diseases with Panuveitis |
4 |
1106 |
c
|
RRL005 |
Rare Lens Disease |
4 |
1107 |
|
SYN126 |
Syndromic Microspherophakia |
4 |
1108 |
|
SYN147 |
Syndromic Ankyloblepharon Filiforme Adnatum |
4 |
1109 |
|
LNS009 |
Lens Size Anomaly |
4 |
1110 |
|
SYN145 |
Syndromic Epicanthus |
3 |
1111 |
|
SYN130 |
Syndromic Lacrimal System Disorder |
3 |
1112 |
|
LNS007 |
Lens Shape Anomaly |
3 |
1113 |
|
CRN314 |
Craniostenosis with Strabismus |
3 |
1114 |
|
CNG631 |
Congenital Aphakia-Iris Hypoplasia-Microphthalmia-Microcornea Syndrome |
3 |
1115 |
|
CHR694 |
Chromosomal Anomaly with Cataract |
3 |
1116 |
|
SYN129 |
Syndromic Chorioretinal Dystrophy |
3 |
1117 |
|
INF183 |
Inflammatory/autoimmune Disorder Involving the Lacrimal System |
3 |
1118 |
|
ISL146 |
Isolated Chorioretinal Dystrophy |
3 |
1119 |
|
ISL144 |
Isolated Vitreoretinopathy |
3 |
1120 |
|
SYN151 |
Syndromic Corneal Dystrophy |
3 |
1121 |
|
SYN153 |
Syndromic Hyperopia |
3 |
1122 |
|
RTN015 |
Retinal Cancer |
52 |
1123 |
|
OCL009 |
Ocular Cancer |
57 |
1124 |
c
|
MSC047 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 1 |
58 |
1125 |
c
|
SKN068 |
Skin/hair/eye Pigmentation, Variation in, 3 |
26 |
1126 |
c
|
SKN070 |
Skin/hair/eye Pigmentation, Variation in, 8 |
15 |
1127 |
P
|
NRP066 |
Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy |
43 |
1128 |
c
|
MSC036 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
66 |
1129 |
c
|
MSC037 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 |
60 |
1130 |
c
|
MSC104 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 |
52 |
1131 |
c
|
MSC093 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
52 |
1132 |
c
|
MSC048 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
51 |
1133 |
c
|
MSC035 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 |
50 |
1134 |
|
OCL022 |
Ocular Melanoma |
50 |
1135 |
c
|
MSC108 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 |
50 |
1136 |
c
|
MSC042 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 6 |
50 |
1137 |
c
|
MSC103 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
48 |
1138 |
c
|
MSC100 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 |
46 |
1139 |
c
|
MSC098 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
45 |
1140 |
c
|
MSC111 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 |
42 |
1141 |
c
|
MSC046 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 |
37 |
1142 |
c
|
MSC045 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 3 |
37 |
1143 |
P
|
MSC002 |
Muscular Dystrophy-Dystroglycanopathy |
36 |
1144 |
c
|
MSC118 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 |
35 |
1145 |
c
|
MSC182 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 |
33 |
1146 |
c
|
MSC044 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 |
33 |
1147 |
c
|
MSC099 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 |
30 |
1148 |
c
|
MSC038 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 |
25 |
1149 |
c
|
MSC188 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 8 |
24 |
1150 |
c
|
MSC200 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 |
20 |
1151 |
c
|
MSC203 |
Muscular Dystrophy-Dystroglycanopathy Type B |
10 |
1152 |
|
OPT008 |
Optic Nerve Neoplasm |
27 |
1153 |
c
|
MSC097 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 |
30 |
1154 |
|
ENC043 |
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration |
19 |
1155 |
c
|
NRP067 |
Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy |
30 |
1156 |
c
|
NRP068 |
Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy |
21 |
1157 |
P
|
LYM118 |
Lymphoma |
65 |
1158 |
|
KNS001 |
Kniest Dysplasia |
54 |
1159 |
|
ECZ002 |
Eczema Herpeticum |
44 |
1160 |
|
RFM001 |
Roifman Syndrome |
37 |
1161 |
c
|
ADL001 |
Adult Lymphoma |
35 |
1162 |
c
|
CNG553 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 |
33 |
1163 |
|
WYB002 |
Wyburn-Mason Syndrome |
30 |
1164 |
c
|
CNG550 |
Congenital Muscular Dystrophy-Dystroglycanopathy A14 |
29 |
1165 |
c
|
EYL003 |
Eye Lymphoma |
28 |
1166 |
|
KPR002 |
Kapur-Toriello Syndrome |
27 |
1167 |
c
|
SKN064 |
Skin/hair/eye Pigmentation, Variation in, 6 |
14 |
1168 |
c
|
SKN072 |
Skin/hair/eye Pigmentation, Variation in, 10 |
13 |
1169 |
|
BLT005 |
Bilateral Meningioma of Optic Nerve |
10 |
1170 |
|
FLT006 |
Floating-Harbor Syndrome |
55 |
1171 |
c
|
FBR046 |
Fibrosis of Extraocular Muscles, Congenital, 1 |
56 |
1172 |
c
|
USH037 |
Usher Syndrome, Type Iia |
55 |
1173 |
|
OPT007 |
Optic Nerve Glioma |
41 |
1174 |
c
|
PRM023 |
Pre-Malignant Neoplasm |
29 |
1175 |
|
NRD073 |
Neurodevelopmental Disorder with Visual Defects and Brain Anomalies |
24 |
1176 |
|
HLP033 |
Halperin-Birk Syndrome |
23 |
1177 |
|
MLG010 |
Malignant Eyelid Melanoma |
8 |
1178 |
P
|
EYC001 |
Eye Carcinoma in Situ |
7 |
1179 |
|
ALL005 |
Allergic Contact Dermatitis of Eyelid |
7 |
1180 |
P
|
MCH002 |
Machado-Joseph Disease |
63 |
1181 |
P
|
NRN021 |
Neuronal Ceroid Lipofuscinosis |
61 |
1182 |
c
|
LSS005 |
Lissencephaly 1 |
59 |
1183 |
P
|
LSS002 |
Lissencephaly |
54 |
1184 |
|
ALP012 |
Alpha-Methylacyl-Coa Racemase Deficiency |
49 |
1185 |
c
|
LSS010 |
Lissencephaly 4 |
46 |
1186 |
c
|
LSS009 |
Lissencephaly 3 |
43 |
1187 |
c
|
LSS025 |
Lissencephaly 5 |
39 |
1188 |
c
|
LSS042 |
Lissencephaly 10 |
39 |
1189 |
c
|
LSS035 |
Lissencephaly 8 |
35 |
1190 |
P
|
SKN067 |
Skin/hair/eye Pigmentation, Variation in, 2 |
32 |
1191 |
c
|
BRN149 |
Brain Small Vessel Disease 1 |
31 |
1192 |
|
EYL002 |
Eyelid Carcinoma |
27 |
1193 |
c
|
CNG554 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 |
24 |
1194 |
|
ICH079 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features |
24 |
1195 |
|
NRV002 |
Nerve Fibre Bundle Defect |
20 |
1196 |
c
|
SKN066 |
Skin/hair/eye Pigmentation, Variation in, 5 |
19 |
1197 |
|
WLF014 |
Wolfram Syndrome, Mitochondrial Form |
19 |
1198 |
c
|
LSS044 |
Lissencephaly 6 |
18 |
1199 |
c
|
MCH012 |
Machado-Joseph Disease Type 1 |
18 |
1200 |
c
|
CNG556 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 |
18 |
1201 |
c
|
MCH013 |
Machado-Joseph Disease Type 3 |
17 |
1202 |
c
|
MCH014 |
Machado-Joseph Disease Type 2 |
17 |
1203 |
c
|
CNG548 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 |
9 |
1204 |
c
|
CNG549 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 |
9 |
1205 |
P
|
PLC011 |
Pilocytic Astrocytoma |
66 |
1206 |
|
SPN008 |
Spondyloepiphyseal Dysplasia Congenita |
57 |
1207 |
|
ONC002 |
Onchocerciasis |
50 |
1208 |
|
BRN139 |
Brain Small Vessel Disease 1 with or Without Ocular Anomalies |
38 |
1209 |
|
SNJ002 |
Snijders Blok-Campeau Syndrome |
33 |
1210 |
c
|
JVN009 |
Juvenile Pilocytic Astrocytoma |
33 |
1211 |
c
|
CNG546 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type a |
31 |
1212 |
|
NRD097 |
Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline |
22 |
1213 |
c
|
CNR041 |
Cone-Rod Dystrophy and Hearing Loss 2 |
19 |
1214 |
|
HYP874 |
Hypotaurinemic Retinal Degeneration and Cardiomyopathy |
19 |
1215 |
c
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
67 |
1216 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
61 |
1217 |
|
CYS010 |
Cystinosis |
59 |
1218 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
59 |
1219 |
|
SPN028 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
58 |
1220 |
P
|
FML023 |
Familial Hemiplegic Migraine |
54 |
1221 |
|
BLL003 |
Bell's Palsy |
53 |
1222 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
52 |
1223 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
52 |
1224 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
51 |
1225 |
c
|
AXN010 |
Axenfeld-Rieger Syndrome, Type 3 |
50 |
1226 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
49 |
1227 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
49 |
1228 |
c
|
USH039 |
Usher Syndrome, Type Ic |
48 |
1229 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
48 |
1230 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
48 |
1231 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
47 |
1232 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
47 |
1233 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
47 |
1234 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
46 |
1235 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
46 |
1236 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
45 |
1237 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
45 |
1238 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
45 |
1239 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
44 |
1240 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
42 |
1241 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
42 |
1242 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
42 |
1243 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
42 |
1244 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
41 |
1245 |
c
|
KNN007 |
Kenny-Caffey Syndrome, Type 2 |
41 |
1246 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
41 |
1247 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
40 |
1248 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
40 |
1249 |
c
|
KNN009 |
Kenny-Caffey Syndrome, Type 1 |
39 |
1250 |
c
|
BRN140 |
Brain Small Vessel Disease 2 |
39 |
1251 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
37 |
1252 |
c
|
CNG386 |
Congenital Disorder of Glycosylation, Type Iu |
36 |
1253 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
36 |
1254 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
35 |
1255 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
35 |
1256 |
c
|
BRN141 |
Brain Small Vessel Disease 3 |
34 |
1257 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
34 |
1258 |
|
KPP002 |
Keppen-Lubinsky Syndrome |
32 |
1259 |
P
|
BRN150 |
Brain Small Vessel Disease |
28 |
1260 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
28 |
1261 |
c
|
CNG626 |
Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive |
27 |
1262 |
|
CLC058 |
Clcn2-Related Leukoencephalopathy |
26 |
1263 |
c
|
MCR214 |
Microphthalmia, Isolated, with Coloboma 9 |
26 |
1264 |
c
|
CNG623 |
Congenital Disorder of Glycosylation, Type Iiw |
26 |
1265 |
c
|
CNG622 |
Congenital Disorder of Glycosylation, Type 2v |
26 |
1266 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
25 |
1267 |
c
|
CNG627 |
Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant |
24 |
1268 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
23 |
1269 |
|
INT334 |
Intellectual Developmental Disorder and Retinitis Pigmentosa |
21 |
1270 |
|
FCL068 |
Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome |
18 |
1271 |
c
|
CL4005 |
Col4a1-Related Brain Small-Vessel Disease |
9 |
1272 |
c
|
CNG628 |
Congenital Disorder of Glycosylation Iw |
9 |
1273 |
P
|
DSR041 |
Disorder of Multiple Glycosylation |
6 |
1274 |
|
LBR037 |
Leber Hereditary Optic Neuropathy with Demyelinating Disease of Cns |
3 |
1275 |
P
|
CRN037 |
Craniosynostosis |
66 |
1276 |
P
|
HRM001 |
Hermansky-Pudlak Syndrome |
63 |
1277 |
|
PTT046 |
Pituitary Hormone Deficiency, Combined, 2 |
63 |
1278 |
P
|
EPD009 |
Epidermolysis Bullosa Dystrophica |
62 |
1279 |
|
TRN015 |
Transient Cerebral Ischemia |
61 |
1280 |
c
|
LSS006 |
Lissencephaly 2 |
59 |
1281 |
|
SPS150 |
Spastic Ataxia, Charlevoix-Saguenay Type |
57 |
1282 |
c
|
HRM005 |
Hermansky-Pudlak Syndrome 1 |
57 |
1283 |
c
|
HRM017 |
Hermansky-Pudlak Syndrome 2 |
56 |
1284 |
c
|
CRN278 |
Craniosynostosis 1 |
53 |
1285 |
|
WRN002 |
Wernicke-Korsakoff Syndrome |
51 |
1286 |
c
|
HRM009 |
Hermansky-Pudlak Syndrome 6 |
50 |
1287 |
|
MNL001 |
Monilethrix |
49 |
1288 |
c
|
HRM006 |
Hermansky-Pudlak Syndrome 3 |
49 |
1289 |
c
|
WRD032 |
Waardenburg Syndrome, Type 2a |
49 |
1290 |
|
PTT004 |
Pituitary Apoplexy |
49 |
1291 |
c
|
EPD076 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
48 |
1292 |
|
OCL069 |
Ocular Motor Apraxia |
48 |
1293 |
c
|
HRM008 |
Hermansky-Pudlak Syndrome 5 |
48 |
1294 |
c
|
EPD071 |
Epidermolysis Bullosa Dystrophica, Autosomal Dominant |
47 |
1295 |
c
|
HRM012 |
Hermansky-Pudlak Syndrome 9 |
46 |
1296 |
P
|
SPN202 |
Spinocerebellar Ataxia, X-Linked 1 |
46 |
1297 |
c
|
SPS213 |
Spastic Paraplegia 75, Autosomal Recessive |
44 |
1298 |
c
|
JBR018 |
Joubert Syndrome 4 |
43 |
1299 |
|
MND025 |
Mandibulofacial Dysostosis with Alopecia |
43 |
1300 |
c
|
USH044 |
Usher Syndrome, Type Iiib |
42 |
1301 |
c
|
HRM007 |
Hermansky-Pudlak Syndrome 4 |
41 |
1302 |
c
|
HRM010 |
Hermansky-Pudlak Syndrome 7 |
40 |
1303 |
c
|
DVL064 |
Developmental and Epileptic Encephalopathy 38 |
40 |
1304 |
|
SWN003 |
Sweeney-Cox Syndrome |
39 |
1305 |
c
|
SPN364 |
Spinocerebellar Ataxia, X-Linked 3 |
39 |
1306 |
c
|
CRN277 |
Craniosynostosis 2 |
38 |
1307 |
c
|
HRM011 |
Hermansky-Pudlak Syndrome 8 |
38 |
1308 |
c
|
SPN363 |
Spinocerebellar Ataxia, X-Linked 4 |
35 |
1309 |
c
|
WRD022 |
Waardenburg Syndrome, Type 2d |
35 |
1310 |
|
EXD009 |
Exudative Vitreoretinopathy 2, X-Linked |
35 |
1311 |
c
|
WRD029 |
Waardenburg Syndrome, Type 2b |
34 |
1312 |
|
FBR094 |
Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement |
34 |
1313 |
|
INT313 |
Intellectual Developmental Disorder with Cardiac Arrhythmia |
34 |
1314 |
|
HYD065 |
Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies |
34 |
1315 |
c
|
CRN281 |
Craniosynostosis 7 |
32 |
1316 |
|
HYP346 |
Hypotrichosis and Recurrent Skin Vesicles |
32 |
1317 |
c
|
SPN203 |
Spinocerebellar Ataxia, X-Linked 5 |
29 |
1318 |
|
BRW006 |
Brown Syndrome |
28 |
1319 |
c
|
CRN217 |
Craniosynostosis 3 |
28 |
1320 |
c
|
CRN221 |
Craniosynostosis 4 |
28 |
1321 |
P
|
CNR040 |
Cone-Rod Dystrophy and Hearing Loss 1 |
27 |
1322 |
c
|
HRM023 |
Hermansky-Pudlak Syndrome 11 |
26 |
1323 |
|
LKD026 |
Leukodystrophy, Progressive, Early Childhood-Onset |
26 |
1324 |
c
|
HRM020 |
Hermansky-Pudlak Syndrome 10 |
26 |
1325 |
c
|
CRN256 |
Craniosynostosis 6 |
25 |
1326 |
|
CLR122 |
Ciliary Body Cancer |
25 |
1327 |
c
|
DVL106 |
Developmental and Epileptic Encephalopathy 83 |
25 |
1328 |
|
8P2002 |
8p23.1 Duplication Syndrome |
24 |
1329 |
|
MYC075 |
Myoclonus, Intractable, Neonatal |
24 |
1330 |
c
|
INT477 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
24 |
1331 |
c
|
CRN216 |
Craniosynostosis 5 |
23 |
1332 |
|
SHK001 |
Shaken Baby Syndrome |
23 |
1333 |
c
|
SPN403 |
Spinocerebellar Ataxia, X-Linked 2 |
20 |
1334 |
|
ABS003 |
Absence of Septum Pellucidum |
18 |
1335 |
|
OST142 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
14 |
1336 |
|
DWR021 |
Dwarfism, Mental Retardation, and Eye Abnormality |
13 |
1337 |
|
RRR001 |
Rere-Related Disorders |
12 |
1338 |
|
DVL026 |
Developmental Defect of the Eye |
10 |
1339 |
|
FRD011 |
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness |
9 |
1340 |
|
RRG076 |
Rare Genetic Eye Disease |
8 |
1341 |
|
ALG005 |
Al Gazali Sabrinathan Nair Syndrome |
7 |
1342 |
c
|
CRN299 |
Craniosynostosis Syndrome, Autosomal Recessive |
7 |
1343 |
|
GNT069 |
Genetic Developmental Defect of the Eye |
6 |
1344 |
|
SNS025 |
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth |
5 |
1345 |
|
RVL001 |
Ruvalcaba Churesigaew Myhre Syndrome |
5 |
1346 |
c
|
CRN093 |
Craniosynostosis Autosomal Dominant |
4 |
1347 |
c
|
RRG052 |
Rare Genetic Disorder of the Posterior Segment of the Eye |
3 |
1348 |
|
GNT080 |
Genetic Central Nervous System and Retinal Vascular Disease |
3 |
1349 |
|
RRG047 |
Rare Genetic Retinal Vasculopathy |
3 |
1350 |
|
RRG071 |
Rare Genetic Disorder of the Visual Organs |
3 |
1351 |
c
|
MCL042 |
Macular Degeneration, Age-Related, 1 |
82 |
1352 |
P
|
HNT016 |
Huntington Disease |
72 |
1353 |
P
|
FRG001 |
Fragile X Syndrome |
69 |
1354 |
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
69 |
1355 |
|
SMT004 |
Smith-Lemli-Opitz Syndrome |
69 |
1356 |
P
|
MYS003 |
Myasthenia Gravis |
69 |
1357 |
P
|
RTH006 |
Rothmund-Thomson Syndrome, Type 2 |
69 |
1358 |
|
MLT163 |
Multiple Pterygium Syndrome, Escobar Variant |
68 |
1359 |
|
ACH022 |
Achalasia-Addisonianism-Alacrima Syndrome |
66 |
1360 |
P
|
CRN015 |
Cornelia De Lange Syndrome |
66 |
1361 |
P
|
PLZ001 |
Pelizaeus-Merzbacher Disease |
65 |
1362 |
P
|
CFF008 |
Coffin-Siris Syndrome 1 |
64 |
1363 |
P
|
ZLL001 |
Zellweger Syndrome |
64 |
1364 |
c
|
MCP043 |
Mucopolysaccharidosis, Type Iiia |
64 |
1365 |
c
|
NRD017 |
Neurodegeneration with Brain Iron Accumulation 1 |
64 |
1366 |
c
|
MTC056 |
Mitochondrial Dna Depletion Syndrome 4a |
63 |
1367 |
c
|
GLC097 |
Glaucoma 3, Primary Congenital, a |
63 |
1368 |
P
|
EPL198 |
Epilepsy, Myoclonic Juvenile |
62 |
1369 |
c
|
LTN004 |
Late-Onset Retinal Degeneration |
62 |
1370 |
|
STR039 |
Sturge-Weber Syndrome |
62 |
1371 |
c
|
CRN139 |
Cornelia De Lange Syndrome 1 |
62 |
1372 |
P
|
STR022 |
Stargardt Disease |
62 |
1373 |
P
|
TRC072 |
Treacher Collins Syndrome 1 |
62 |
1374 |
|
PPL048 |
Papillorenal Syndrome |
62 |
1375 |
|
LCR014 |
Lacrimoauriculodentodigital Syndrome |
61 |
1376 |
|
DPM001 |
Dopamine Beta-Hydroxylase Deficiency |
60 |
1377 |
P
|
CTR002 |
Cataract |
60 |
1378 |
|
GLC012 |
Galactosialidosis |
59 |
1379 |
P
|
STC001 |
Stickler Syndrome |
58 |
1380 |
|
CRN276 |
Corneal Endothelial Dystrophy |
57 |
1381 |
P
|
STR020 |
Strabismus |
57 |
1382 |
P
|
UVT001 |
Uveitis |
57 |
1383 |
P
|
EHL078 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
56 |
1384 |
c
|
CRD183 |
Ceroid Lipofuscinosis, Neuronal, 2 |
56 |
1385 |
c
|
MCP048 |
Mucopolysaccharidosis, Type Ivb |
56 |
1386 |
c
|
MTC054 |
Mitochondrial Dna Depletion Syndrome 7 |
56 |
1387 |
c
|
NRD008 |
Neurodegeneration with Brain Iron Accumulation 3 |
56 |
1388 |
c
|
MTC055 |
Mitochondrial Dna Depletion Syndrome 4b |
56 |
1389 |
c
|
NRD032 |
Neurodegeneration with Brain Iron Accumulation 5 |
56 |
1390 |
c
|
ANT034 |
Anterior Uveitis |
56 |
1391 |
P
|
MYP006 |
Myopia |
56 |
1392 |
c
|
GLC111 |
Galactosemia Ii |
55 |
1393 |
P
|
FRN036 |
Frontonasal Dysplasia 1 |
55 |
1394 |
c
|
INT064 |
Intermediate Uveitis |
55 |
1395 |
|
OHD004 |
Ohdo Syndrome |
54 |
1396 |
|
ICH054 |
Ichthyosis, X-Linked |
54 |
1397 |
|
MSC077 |
Muscle Eye Brain Disease |
54 |
1398 |
|
OCL008 |
Oculopharyngeal Muscular Dystrophy |
54 |
1399 |
P
|
CNG010 |
Congenital Stationary Night Blindness |
54 |
1400 |
c
|
MTC061 |
Mitochondrial Dna Depletion Syndrome 1 |
54 |
1401 |
P
|
RTN018 |
Retinal Disease |
54 |
1402 |
P
|
CHR637 |
Choroidal Dystrophy, Central Areolar, 1 |
53 |
1403 |
|
FRY006 |
Fryns Microphthalmia Syndrome |
53 |
1404 |
P
|
NRD007 |
Neurodegeneration with Brain Iron Accumulation |
52 |
1405 |
c
|
MTC063 |
Mitochondrial Dna Depletion Syndrome 3 |
52 |
1406 |
c
|
GLL038 |
Galloway-Mowat Syndrome 1 |
52 |
1407 |
P
|
JVN008 |
Juvenile Glaucoma |
51 |
1408 |
c
|
MTC058 |
Mitochondrial Dna Depletion Syndrome 6 |
51 |
1409 |
|
ALL009 |
Allergic Conjunctivitis |
51 |
1410 |
c
|
PST005 |
Posterior Uveitis |
51 |
1411 |
|
HYP801 |
Hyperferritinemia with or Without Cataract |
51 |
1412 |
|
EXS001 |
Exostosis |
50 |
1413 |
|
MLY008 |
Molybdenum Cofactor Deficiency, Complementation Group a |
50 |
1414 |
P
|
BLP047 |
Blepharocheilodontic Syndrome 1 |
50 |
1415 |
c
|
MTC060 |
Mitochondrial Dna Depletion Syndrome 9 |
49 |
1416 |
c
|
MTC062 |
Mitochondrial Dna Depletion Syndrome 2 |
49 |
1417 |
c
|
NRD016 |
Neurodegeneration with Brain Iron Accumulation 6 |
49 |
1418 |
c
|
MSC109 |
Mosaic Variegated Aneuploidy Syndrome 1 |
49 |
1419 |
|
DYS160 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
49 |
1420 |
|
AST006 |
Astigmatism |
48 |
1421 |
|
BLL004 |
Bullous Keratopathy |
48 |
1422 |
|
SNG007 |
Sengers Syndrome |
48 |
1423 |
c
|
GRS013 |
Griscelli Syndrome, Type 1 |
48 |
1424 |
c
|
USH020 |
Usher Syndrome, Type Iic |
48 |
1425 |
P
|
TTR031 |
Tetraamelia Syndrome |
48 |
1426 |
c
|
CRN134 |
Cornelia De Lange Syndrome 2 |
47 |
1427 |
|
EPT021 |
Epithelial Recurrent Erosion Dystrophy |
47 |
1428 |
|
PLR023 |
Polr3-Related Leukodystrophy |
47 |
1429 |
c
|
ANT085 |
Anterior Segment Dysgenesis 5 |
47 |
1430 |
P
|
MTC010 |
Mitochondrial Dna Depletion Syndrome |
47 |
1431 |
c
|
MTC059 |
Mitochondrial Dna Depletion Syndrome 5 |
47 |
1432 |
|
OCC002 |
Occult Macular Dystrophy |
47 |
1433 |
c
|
ZLL011 |
Zellweger Spectrum Disorder |
47 |
1434 |
|
CHR492 |
Chromosome 13q14 Deletion Syndrome |
47 |
1435 |
|
SVR058 |
Severe Early-Childhood-Onset Retinal Dystrophy |
47 |
1436 |
|
PTH003 |
Pathologic Nystagmus |
47 |
1437 |
c
|
NRD009 |
Neurodegeneration with Brain Iron Accumulation 2b |
46 |
1438 |
c
|
BRW008 |
Brown-Vialetto-Van Laere Syndrome 2 |
46 |
1439 |
|
VRN004 |
Vernal Keratoconjunctivitis |
46 |
1440 |
P
|
GLL032 |
Galloway-Mowat Syndrome |
46 |
1441 |
|
JLL001 |
Jalili Syndrome |
46 |
1442 |
c
|
NRD014 |
Neurodegeneration with Brain Iron Accumulation 4 |
45 |
1443 |
P
|
DNR001 |
Duane Retraction Syndrome |
45 |
1444 |
|
ARC025 |
Arachnoid Cysts, Intracranial |
45 |
1445 |
|
PRP026 |
Peripheral Retinal Degeneration |
45 |
1446 |
c
|
FML363 |
Familial Adult Myoclonic Epilepsy |
44 |
1447 |
c
|
NGH010 |
Night Blindness, Congenital Stationary, Autosomal Dominant 2 |
44 |
1448 |
c
|
MTC088 |
Mitochondrial Dna Depletion Syndrome 13 |
44 |
1449 |
|
VTR003 |
Vitreous Detachment |
44 |
1450 |
P
|
CRN026 |
Corneal Edema |
44 |
1451 |
P
|
PLM158 |
Palmoplantar Keratoderma and Congenital Alopecia 1 |
44 |
1452 |
c
|
NPH067 |
Nephronophthisis 12 |
44 |
1453 |
P
|
ECT005 |
Ectropion |
44 |
1454 |
c
|
ATM099 |
Autoimmune Uveitis |
44 |
1455 |
|
EST005 |
Esotropia |
43 |
1456 |
c
|
CTR130 |
Cataract 9, Multiple Types |
43 |
1457 |
c
|
CFF009 |
Coffin-Siris Syndrome 4 |
43 |
1458 |
c
|
MYC083 |
Myoclonic Epilepsy, Familial Infantile |
43 |
1459 |
c
|
MCR212 |
Microphthalmia, Syndromic 12 |
42 |
1460 |
c
|
AXN009 |
Axenfeld-Rieger Syndrome, Type 1 |
42 |
1461 |
|
EXT022 |
Exotropia |
42 |
1462 |
c
|
MCP051 |
Mucopolysaccharidosis, Type Ix |
42 |
1463 |
|
PRL047 |
Prolonged Electroretinal Response Suppression |
42 |
1464 |
|
HYP332 |
Hypotrichosis, Congenital, with Juvenile Macular Dystrophy |
42 |
1465 |
c
|
CRD257 |
Ceroid Lipofuscinosis, Neuronal, 4 |
42 |
1466 |
|
CHR382 |
Chromosome 18q Deletion Syndrome |
42 |
1467 |
|
IVC001 |
Ivic Syndrome |
42 |
1468 |
|
SCT002 |
Scotoma |
42 |
1469 |
c
|
SPS137 |
Spastic Paraplegia 57, Autosomal Recessive |
42 |
1470 |
|
ORB006 |
Orbital Cellulitis |
42 |
1471 |
|
CRN237 |
Corneal Dystrophy, Avellino Type |
41 |
1472 |
c
|
MTC065 |
Mitochondrial Dna Depletion Syndrome 8a |
41 |
1473 |
P
|
CRN024 |
Corneal Disease |
41 |
1474 |
|
OCL015 |
Oculomotor Apraxia |
41 |
1475 |
c
|
CHR086 |
Chronic Conjunctivitis |
41 |
1476 |
|
LCR013 |
Lacrimal Duct Defect |
41 |
1477 |
|
NRR001 |
Neuroretinitis |
41 |
1478 |
c
|
PRM032 |
Primary Congenital Glaucoma |
41 |
1479 |
|
ANG004 |
Angioid Streaks |
41 |
1480 |
|
EYL005 |
Eyelid Disease |
41 |
1481 |
c
|
PLM149 |
Palmoplantar Keratoderma and Congenital Alopecia 2 |
40 |
1482 |
|
LTH002 |
Lathosterolosis |
40 |
1483 |
c
|
CRN209 |
Cornelia De Lange Syndrome 5 |
40 |
1484 |
c
|
GRS012 |
Griscelli Syndrome, Type 3 |
40 |
1485 |
c
|
MCR312 |
Microphthalmia, Syndromic 10 |
40 |
1486 |
|
SYM002 |
Sympathetic Ophthalmia |
40 |
1487 |
|
FCH002 |
Fuchs' Heterochromic Uveitis |
40 |
1488 |
c
|
HYP525 |
Hypotrichosis 2 |
40 |
1489 |
P
|
OGC005 |
Oguchi Disease |
40 |
1490 |
c
|
MSC106 |
Mosaic Variegated Aneuploidy Syndrome 2 |
40 |
1491 |
|
ATX023 |
Ataxia, Sensory, 1, Autosomal Dominant |
39 |
1492 |
c
|
CTR125 |
Cataract 7 |
39 |
1493 |
c
|
WRB005 |
Warburg Micro Syndrome 4 |
39 |
1494 |
|
FRS019 |
Farsightedness |
39 |
1495 |
c
|
EHL084 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
39 |
1496 |
c
|
CTR132 |
Cataract 3, Multiple Types |
39 |
1497 |
|
RNG003 |
Ring Dermoid of Cornea |
39 |
1498 |
c
|
CFF011 |
Coffin-Siris Syndrome 6 |
39 |
1499 |
c
|
CTR115 |
Cataract 16, Multiple Types |
39 |
1500 |
|
PRM024 |
Primary Angle-Closure Glaucoma |
39 |
1501 |
P
|
PRS013 |
Prosopagnosia |
39 |
1502 |
P
|
RHM037 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
39 |
1503 |
c
|
HYP559 |
Hypotrichosis 8 |
39 |
1504 |
P
|
FML362 |
Familial Isolated Hypoparathyroidism |
39 |
1505 |
c
|
CTR170 |
Cataract 30, Multiple Types |
39 |
1506 |
c
|
NGH025 |
Night Blindness, Congenital Stationary, Type 2a |
38 |
1507 |
c
|
CTR113 |
Cataract 11, Multiple Types |
38 |
1508 |
|
CRN022 |
Corneal Degeneration |
38 |
1509 |
|
EXC003 |
Excessive Tearing |
38 |
1510 |
c
|
GLC083 |
Glaucoma 3, Primary Infantile, B |
38 |
1511 |
c
|
MTC078 |
Mitochondrial Dna Depletion Syndrome 11 |
38 |
1512 |
c
|
NGH008 |
Night Blindness, Congenital Stationary, Autosomal Dominant 3 |
38 |
1513 |
c
|
STC013 |
Stickler Syndrome, Type Ii |
38 |
1514 |
c
|
CFF007 |
Coffin-Siris Syndrome 2 |
38 |
1515 |
c
|
CFF010 |
Coffin-Siris Syndrome 3 |
38 |
1516 |
c
|
ANT084 |
Anterior Segment Dysgenesis 3 |
38 |
1517 |
|
OPH002 |
Ophthalmia Neonatorum |
38 |
1518 |
c
|
CTR145 |
Cataract 44 |
37 |
1519 |
|
CRN274 |
Corneal Dystrophy, Posterior Amorphous |
37 |
1520 |
c
|
ACT067 |
Acute Conjunctivitis |
37 |
1521 |
|
INT042 |
Internuclear Ophthalmoplegia |
37 |
1522 |
|
GRN055 |
Granular Corneal Dystrophy |
37 |
1523 |
|
UVL008 |
Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability |
37 |
1524 |
c
|
FRN033 |
Frontonasal Dysplasia 2 |
37 |
1525 |
|
RCR001 |
Recurrent Corneal Erosion |
37 |
1526 |
|
DGN002 |
Degenerative Myopia |
36 |
1527 |
c
|
EPL203 |
Epilepsy, Familial Adult Myoclonic, 2 |
36 |
1528 |
c
|
TRC071 |
Treacher Collins Syndrome 3 |
36 |
1529 |
c
|
NGH021 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
36 |
1530 |
|
CHR079 |
Choroid Disease |
36 |
1531 |
|
HRD016 |
Hereditary Retinal Dystrophy |
36 |
1532 |
c
|
CTR129 |
Cataract 31, Multiple Types |
36 |
1533 |
|
OCL010 |
Ocular Hypotension |
35 |
1534 |
c
|
CTR181 |
Cataract 18 |
35 |
1535 |
|
XRD026 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
35 |
1536 |
|
CNJ007 |
Conjunctivochalasis |
35 |
1537 |
c
|
NGH027 |
Night Blindness, Congenital Stationary, Type 1c |
35 |
1538 |
c
|
EPL155 |
Epilepsy, Progressive Myoclonic, 8 |
35 |
1539 |
c
|
RTN237 |
Retinitis Pigmentosa 91 |
34 |
1540 |
c
|
EPL207 |
Epilepsy, Progressive Myoclonic, 1b |
34 |
1541 |
c
|
CTR122 |
Cataract 5, Multiple Types |
34 |
1542 |
|
BRN041 |
Bornholm Eye Disease |
34 |
1543 |
|
CTR014 |
Cataract Microcornea Syndrome |
34 |
1544 |
c
|
CTR183 |
Cataract 38 |
34 |
1545 |
c
|
ALB015 |
Albinism, Oculocutaneous, Type V |
34 |
1546 |
c
|
EPL134 |
Epilepsy, Progressive Myoclonic 7 |
34 |
1547 |
|
PPL019 |
Papillary Conjunctivitis |
34 |
1548 |
c
|
INF122 |
Infantile Krabbe Disease |
34 |
1549 |
|
LGP001 |
Lagophthalmos |
34 |
1550 |
c
|
NGH007 |
Night Blindness, Congenital Stationary, Type 1b |
34 |
1551 |
|
NRD139 |
Neurodevelopmental Disorder with Hearing Loss, Seizures, and Brain Abnormalities |
34 |
1552 |
|
ANS004 |
Anisometropia |
33 |
1553 |
|
CTR140 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia |
33 |
1554 |
c
|
INF019 |
Infectious Anterior Uveitis |
33 |
1555 |
|
RTN123 |
Retinochoroidal Coloboma |
33 |
1556 |
c
|
MCR228 |
Microphthalmia, Syndromic 13 |
33 |
1557 |
|
YHV001 |
You-Hoover-Fong Syndrome |
33 |
1558 |
c
|
CFF014 |
Coffin-Siris Syndrome 9 |
33 |
1559 |
c
|
CTR102 |
Cataract 2, Multiple Types |
33 |
1560 |
|
MCP039 |
Mucoepithelial Dysplasia, Hereditary |
33 |
1561 |
c
|
CTR131 |
Cataract 17, Multiple Types |
32 |
1562 |
|
CHR077 |
Chorioretinal Scar |
32 |
1563 |
c
|
EPL053 |
Epilepsy, Familial Adult Myoclonic, 3 |
32 |
1564 |
c
|
MTC126 |
Mitochondrial Dna Depletion Syndrome 14 |
32 |
1565 |
P
|
KNN002 |
Kenny-Caffey Syndrome |
32 |
1566 |
c
|
EPL009 |
Epilepsy Progressive Myoclonic Type 3 |
32 |
1567 |
c
|
GLL040 |
Galloway-Mowat Syndrome 3 |
32 |
1568 |
|
CRN273 |
Corneal Dystrophy, Subepithelial Mucinous |
32 |
1569 |
c
|
EPL201 |
Epilepsy, Familial Adult Myoclonic, 1 |
31 |
1570 |
c
|
EPL188 |
Epilepsy, Progressive Myoclonic, 10 |
31 |
1571 |
|
TTR027 |
Tetrasomy 15q26 |
31 |
1572 |
|
PTH001 |
Pthirus Pubis Infestation |
30 |
1573 |
|
JBR032 |
Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy |
30 |
1574 |
|
LGH012 |
Leigh Syndrome with Leukodystrophy |
30 |
1575 |
|
LGH013 |
Leigh Syndrome with Cardiomyopathy |
30 |
1576 |
|
3MC004 |
3mc Syndrome 3 |
30 |
1577 |
|
DRM043 |
Dermochondrocorneal Dystrophy |
30 |
1578 |
c
|
EPL103 |
Epilepsy, Familial Adult Myoclonic, 5 |
30 |
1579 |
c
|
BRD050 |
Bardet-Biedl Syndrome 21 |
29 |
1580 |
c
|
FRN032 |
Frontonasal Dysplasia 3 |
29 |
1581 |
|
WLD004 |
Wildervanck Syndrome |
29 |
1582 |
c
|
SNR015 |
Senior-Loken Syndrome 8 |
29 |
1583 |
c
|
KRT029 |
Keratoconus 1 |
29 |
1584 |
c
|
CFF017 |
Coffin-Siris Syndrome 12 |
29 |
1585 |
c
|
CTR141 |
Cataract 21, Multiple Types |
29 |
1586 |
c
|
MTC075 |
Metachromatic Leukodystrophy, Late Infantile Form |
29 |
1587 |
|
NSP016 |
Nasopalpebral Lipoma-Coloboma Syndrome |
29 |
1588 |
c
|
CFF013 |
Coffin-Siris Syndrome 8 |
29 |
1589 |
P
|
MCL035 |
Macular Dystrophy, Retinal, 2 |
29 |
1590 |
c
|
INH030 |
Inherited Retinal Disorder |
28 |
1591 |
c
|
EPL154 |
Epilepsy, Progressive Myoclonic, 9 |
28 |
1592 |
|
ANS002 |
Aniseikonia |
28 |
1593 |
|
IMM002 |
Immature Cataract |
28 |
1594 |
|
HYP047 |
Hypertropia |
28 |
1595 |
|
PST044 |
Postorgasmic Illness Syndrome |
28 |
1596 |
|
CRB204 |
Cerebellar, Ocular, Craniofacial, and Genital Syndrome |
28 |
1597 |
c
|
MYC086 |
Myoclonic Epilepsy, Juvenile 4 |
28 |
1598 |
|
PTC005 |
Pituicytoma |
28 |
1599 |
c
|
LKD028 |
Leukodystrophy, Hypomyelinating, 15 |
28 |
1600 |
c
|
PRS058 |
Prosopagnosia, Hereditary |
28 |
1601 |
c
|
CFF012 |
Coffin-Siris Syndrome 7 |
27 |
1602 |
c
|
MYC068 |
Myoclonic Epilepsy of Infancy |
27 |
1603 |
c
|
EPL107 |
Epilepsy, Familial Adult Myoclonic, 4 |
27 |
1604 |
|
VST003 |
Vestibular Nystagmus |
27 |
1605 |
c
|
CTR180 |
Cataract 22, Multiple Types |
27 |
1606 |
c
|
EPL228 |
Epilepsy, Familial Adult Myoclonic, 7 |
27 |
1607 |
c
|
HYP515 |
Hypotrichosis 3 |
27 |
1608 |
c
|
DVL101 |
Developmental and Epileptic Encephalopathy 78 |
27 |
1609 |
c
|
MTC143 |
Mitochondrial Dna Depletion Syndrome 12b |
26 |
1610 |
|
CHR252 |
Chromosome 5p Duplication |
26 |
1611 |
c
|
PLZ002 |
Pelizaeus-Merzbacher-Like Disease |
26 |
1612 |
c
|
CTR116 |
Cataract 15, Multiple Types |
26 |
1613 |
c
|
ANT067 |
Anterior Segment Dysgenesis 8 |
26 |
1614 |
P
|
ACT077 |
Acute Orbital Inflammation |
26 |
1615 |
c
|
EPL227 |
Epilepsy, Familial Adult Myoclonic, 6 |
26 |
1616 |
c
|
ANT087 |
Anterior Segment Dysgenesis 6 |
26 |
1617 |
c
|
CFF006 |
Coffin-Siris Syndrome 5 |
26 |
1618 |
|
TRN011 |
Transient Refractive Change |
26 |
1619 |
|
PRG122 |
Prognathism, Mandibular |
26 |
1620 |
c
|
GLL042 |
Galloway-Mowat Syndrome 5 |
26 |
1621 |
|
NNS134 |
Non-Syndromic Bicoronal Craniosynostosis |
26 |
1622 |
c
|
TTR028 |
Tetraamelia Syndrome 1 |
26 |
1623 |
c
|
CTR105 |
Cataract 12, Multiple Types |
26 |
1624 |
c
|
MTC138 |
Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive |
26 |
1625 |
c
|
OCL081 |
Oculocutaneous Albinism, Type Viii |
26 |
1626 |
|
PRT091 |
Partial Cryptophthalmia |
26 |
1627 |
|
EXP002 |
Exposure Keratitis |
26 |
1628 |
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
25 |
1629 |
|
SRP002 |
Serpiginous Choroiditis |
25 |
1630 |
|
SPN141 |
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech |
25 |
1631 |
c
|
GLL045 |
Galloway-Mowat Syndrome 6 |
25 |
1632 |
c
|
SNR005 |
Senior-Loken Syndrome 5 |
25 |
1633 |
c
|
GLL046 |
Galloway-Mowat Syndrome 7 |
25 |
1634 |
|
HRP011 |
Herpes Zoster Ophthalmicus |
25 |
1635 |
|
ARG003 |
Argyll Robertson Pupil |
25 |
1636 |
c
|
TTR029 |
Tetraamelia Syndrome 2 |
25 |
1637 |
c
|
BLP049 |
Blepharocheilodontic Syndrome 2 |
25 |
1638 |
c
|
GLL041 |
Galloway-Mowat Syndrome 4 |
25 |
1639 |
c
|
SNR016 |
Senior-Loken Syndrome 9 |
25 |
1640 |
|
PRP102 |
Peripheral Neuropathy, Autosomal Recessive, with or Without Impaired Intellectual Development |
25 |
1641 |
|
SHP004 |
Shprintzen Omphalocele Syndrome |
24 |
1642 |
c
|
GLC054 |
Glaucoma 3, Primary Congenital, D |
24 |
1643 |
|
VSL005 |
Visual Pathway Disease |
24 |
1644 |
|
PRL014 |
Paralytic Squint |
24 |
1645 |
|
ORB007 |
Orbital Cyst |
24 |
1646 |
|
OCL070 |
Oculopalatocerebral Syndrome |
24 |
1647 |
|
ATX037 |
Ataxia-Deafness-Retardation Syndrome |
24 |
1648 |
c
|
CTR165 |
Cataract 19, Multiple Types |
24 |
1649 |
c
|
CHR093 |
Chronic Orbital Inflammation |
24 |
1650 |
|
MCR220 |
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus |
24 |
1651 |
c
|
MTC234 |
Mitochondrial Dna Depletion Syndrome 16b |
24 |
1652 |
|
CLB011 |
Coloboma of Macula with Type B Brachydactyly |
23 |
1653 |
c
|
CTR162 |
Cataract 47 |
23 |
1654 |
|
ANL024 |
Anal Atresia, Hypospadias, and Penoscrotal Inversion |
23 |
1655 |
c
|
MTC204 |
Mitochondrial Dna Depletion Syndrome 18 |
23 |
1656 |
|
CHR158 |
Charles Bonnet Syndrome |
23 |
1657 |
c
|
GLL053 |
Galloway-Mowat Syndrome 10 |
23 |
1658 |
c
|
EPL254 |
Epilepsy, Progressive Myoclonic, 11 |
23 |
1659 |
c
|
CFF016 |
Coffin-Siris Syndrome 11 |
23 |
1660 |
c
|
MCR217 |
Microphthalmia, Syndromic 11 |
23 |
1661 |
|
PNG001 |
Pinguecula |
23 |
1662 |
|
CCT004 |
Cicatricial Lagophthalmos |
23 |
1663 |
c
|
MTC236 |
Mitochondrial Dna Depletion Syndrome 20 |
23 |
1664 |
c
|
DVL082 |
Developmental and Epileptic Encephalopathy 58 |
23 |
1665 |
c
|
MTC129 |
Mitochondrial Dna Depletion Syndrome 15 |
23 |
1666 |
|
ORB019 |
Orbital Margin, Hypoplasia of |
23 |
1667 |
|
THL003 |
Thelaziasis |
23 |
1668 |
|
CTR188 |
Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy |
23 |
1669 |
c
|
GLL047 |
Galloway-Mowat Syndrome 8 |
23 |
1670 |
|
FLY003 |
Flynn-Aird Syndrome |
23 |
1671 |
c
|
HYP867 |
Hypoparathyroidism, Familial Isolated, 2 |
23 |
1672 |
|
SCL014 |
Scleral Staphyloma |
23 |
1673 |
|
CTF001 |
Catifa Syndrome |
23 |
1674 |
c
|
MYC085 |
Myoclonic Epilepsy, Juvenile 3 |
23 |
1675 |
|
CNG357 |
Congenital Symblepharon |
23 |
1676 |
|
CTR027 |
Cataract-Glaucoma |
22 |
1677 |
c
|
PLD003 |
Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome |
22 |
1678 |
|
GRN016 |
Grant Syndrome |
22 |
1679 |
c
|
CTR184 |
Cataract 39, Multiple Types |
22 |
1680 |
P
|
ATM076 |
Autoimmune Retinopathy |
22 |
1681 |
c
|
CHR059 |
Chronic Endophthalmitis |
22 |
1682 |
|
INT392 |
Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures |
22 |
1683 |
c
|
STC012 |
Stickler Syndrome, Type Iv |
22 |
1684 |
c
|
CTR106 |
Cataract 20, Multiple Types |
22 |
1685 |
c
|
MTC182 |
Mitochondrial Dna Depletion Syndrome 16 |
22 |
1686 |
c
|
NRD047 |
Neurodegeneration with Brain Iron Accumulation 7 |
22 |
1687 |
c
|
EPL210 |
Epilepsy, Progressive Myoclonic, 6 |
22 |
1688 |
|
CMB069 |
Combined Hamartoma of the Retina and Retinal Pigment Epithelium |
22 |
1689 |
|
EXF002 |
Exfoliative Ichthyosis |
22 |
1690 |
c
|
RHM033 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
22 |
1691 |
c
|
KRT075 |
Keratoconus 9 |
22 |
1692 |
c
|
RNG012 |
Ring Chromosome 17 |
22 |
1693 |
c
|
MTC139 |
Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant |
22 |
1694 |
c
|
GLC089 |
Glaucoma 3, Primary Congenital, E |
22 |
1695 |
|
BLN008 |
Blind Hypotensive Eye |
21 |
1696 |
c
|
MTC213 |
Mitochondrial Dna Depletion Syndrome 19 |
21 |
1697 |
c
|
NRD048 |
Neurodegeneration with Brain Iron Accumulation 8 |
21 |
1698 |
|
OCL043 |
Oculorenocerebellar Syndrome |
21 |
1699 |
c
|
EPL217 |
Epilepsy, Juvenile Myoclonic 10 |
21 |
1700 |
P
|
IDP049 |
Idiopathic Anterior Uveitis |
21 |
1701 |
c
|
TRC126 |
Treacher Collins Syndrome 4 |
21 |
1702 |
c
|
CTR160 |
Cataract 45 |
21 |
1703 |
c
|
STC020 |
Stickler Syndrome, Type Vi |
21 |
1704 |
|
ACT235 |
Acute Macular Neuroretinopathy |
21 |
1705 |
|
SPS087 |
Spasmus Nutans |
21 |
1706 |
c
|
MSC139 |
Mosaic Variegated Aneuploidy Syndrome 3 |
21 |
1707 |
|
DRM015 |
Dermoids of Cornea |
21 |
1708 |
c
|
CTR144 |
Cataract 43 |
21 |
1709 |
|
PHK008 |
Phakomatosis Cesioflammea |
21 |
1710 |
|
SYN149 |
Syndromic Rod-Cone Dystrophy |
21 |
1711 |
|
CRN007 |
Corneal Staphyloma |
21 |
1712 |
|
NCL001 |
Nuclear Senile Cataract |
21 |
1713 |
c
|
NGH022 |
Night Blindness, Congenital Stationary, Type 1g |
21 |
1714 |
|
PNC059 |
Punctate Inner Choroidopathy |
21 |
1715 |
|
AMB007 |
Amoebic Keratitis |
21 |
1716 |
c
|
MTC200 |
Mitochondrial Dna Depletion Syndrome 17 |
20 |
1717 |
c
|
GLL052 |
Galloway-Mowat Syndrome 9 |
20 |
1718 |
c
|
EPL257 |
Epilepsy, Progressive Myoclonic, 12 |
20 |
1719 |
|
RTC011 |
Reticular Dystrophy of Retinal Pigment Epithelium |
20 |
1720 |
c
|
ANR046 |
Aniridia 3 |
20 |
1721 |
|
IDP047 |
Idiopathic Panuveitis |
20 |
1722 |
|
MCR381 |
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 |
20 |
1723 |
c
|
STC011 |
Stickler Syndrome, Type V |
20 |
1724 |
|
ITR001 |
Iatrogenic Botulism |
20 |
1725 |
|
EPD051 |
Epidermolysis Bullosa Simplex with Anodontia/hypodontia |
20 |
1726 |
|
EPB002 |
Epiblepharon |
19 |
1727 |
|
SPC024 |
Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease |
19 |
1728 |
|
CNT088 |
Central Cloudy Dystrophy of Francois |
19 |
1729 |
|
PNH003 |
Pinheiro Freire-Maia Miranda Syndrome |
19 |
1730 |
c
|
INF152 |
Infectious Posterior Uveitis |
19 |
1731 |
|
CMP074 |
Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye |
19 |
1732 |
c
|
TYS005 |
Tay-Sachs Disease, B1 Variant |
19 |
1733 |
|
INH013 |
Inhalational Botulism |
19 |
1734 |
c
|
MCR108 |
Microphthalmia, Isolated 7 |
19 |
1735 |
|
ACH040 |
Achoo Syndrome |
19 |
1736 |
|
HRD017 |
Hordeolum Externum |
19 |
1737 |
|
PLZ007 |
Pelizaeus-Merzbacher Disease, Classic Form |
18 |
1738 |
c
|
KRT040 |
Keratoconus 3 |
18 |
1739 |
|
DBL001 |
Double Pterygium |
18 |
1740 |
|
OPT077 |
Optic Disc Pit |
18 |
1741 |
|
HRM026 |
Hermansky-Pudlak Syndrome Due to Bloc-2 Deficiency |
18 |
1742 |
c
|
KRT050 |
Keratoconus 5 |
18 |
1743 |
|
HRM025 |
Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency |
18 |
1744 |
|
HYP667 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
17 |
1745 |
c
|
CNG596 |
Congenital Ectropion |
17 |
1746 |
c
|
SCN003 |
Secondary Corneal Edema |
17 |
1747 |
|
MCR078 |
Microphthalmia Microtia Fetal Akinesia |
17 |
1748 |
c
|
KRT052 |
Keratoconus 6 |
17 |
1749 |
c
|
SX2003 |
Six2-Related Frontonasal Dysplasia |
17 |
1750 |
|
INT008 |
Intermittent Squint |
17 |
1751 |
|
DST082 |
Distal Trisomy 10q |
17 |
1752 |
|
VNB001 |
Van Benthem-Driessen-Hanveld Syndrome |
17 |
1753 |
|
VSP001 |
Vasoproliferative Tumor of the Retina |
17 |
1754 |
|
TRN026 |
Tranebjaerg Svejgaard Syndrome |
17 |
1755 |
|
LVC001 |
Levic Stefanovic Nikolic Syndrome |
17 |
1756 |
|
CNG362 |
Congenital Trochlear Nerve Palsy |
17 |
1757 |
|
CSK001 |
Cask-Related Disorders |
16 |
1758 |
|
PRG115 |
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome |
16 |
1759 |
|
ECT016 |
Ectodermal Dysplasia Blindness |
16 |
1760 |
|
BNC002 |
Binocular Vision Disease |
16 |
1761 |
|
INT176 |
Intraocular Medulloepithelioma |
16 |
1762 |
|
CNG457 |
Congenital Oculomotor Nerve Palsy |
16 |
1763 |
c
|
LTN017 |
Late-Infantile/juvenile Krabbe Disease |
16 |
1764 |
|
NND003 |
Non-Distal Trisomy 10q |
16 |
1765 |
|
CRN324 |
Corneal Endotheliitis |
16 |
1766 |
|
ERL037 |
Early-Onset Lamellar Cataract |
16 |
1767 |
c
|
MTC014 |
Mitochondrial Dna Deletion Syndromes |
15 |
1768 |
|
APL011 |
Aplasia Cutis Myopia |
15 |
1769 |
|
MRC008 |
Mrcs Syndrome |
15 |
1770 |
c
|
PST110 |
Posterior Corneal Dystrophy |
15 |
1771 |
|
SLV016 |
Silver-Russell Syndrome Due to 7p11.2p13 Microduplication |
15 |
1772 |
c
|
KRT054 |
Keratoconus 8 |
15 |
1773 |
c
|
KRT039 |
Keratoconus 2 |
15 |
1774 |
|
NRD176 |
Neurodegeneration, Childhood-Onset, with Multisystem Involvement Due to Mitochondrial Dysfunction |
15 |
1775 |
|
XLN187 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
15 |
1776 |
|
OLG014 |
Oligocone Trichromacy |
15 |
1777 |
c
|
EPL186 |
Epilepsy, Juvenile Myoclonic 9 |
15 |
1778 |
|
INF184 |
Infective Keratitis |
15 |
1779 |
c
|
ADL101 |
Adult-Onset Steinert Myotonic Dystrophy |
15 |
1780 |
P
|
NNN030 |
Non-Infectious Anterior Uveitis |
14 |
1781 |
|
FLC004 |
Fleck Retina of Kandori |
14 |
1782 |
|
CLM004 |
Climatic Droplet Keratopathy |
14 |
1783 |
|
SCL050 |
Scoliosis, Arachnodactyly, and Blindness |
14 |
1784 |
c
|
CHR665 |
Choroidal Dystrophy, Central Areolar, 3 |
14 |
1785 |
c
|
GLL043 |
Galloway-Mowat Syndrome 2 |
14 |
1786 |
c
|
GLC052 |
Glaucoma 3, Primary Congenital, C |
14 |
1787 |
|
NND004 |
Non-Distal Monosomy 10q |
14 |
1788 |
|
SYN112 |
Syndromic Microphthalmia-Anophthalmia-Coloboma |
14 |
1789 |
|
PLZ008 |
Pelizaeus-Merzbacher Disease, Transitional Form |
14 |
1790 |
|
SPP006 |
Suppurative Uveitis |
13 |
1791 |
c
|
KRT041 |
Keratoconus 4 |
13 |
1792 |
c
|
NDP001 |
Ndp-Related Retinopathies |
13 |
1793 |
|
SPS186 |
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome |
13 |
1794 |
c
|
MTC142 |
Mitochondrial Dna Depletion Syndrome 12a |
13 |
1795 |
|
MLT143 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
13 |
1796 |
|
ODN004 |
Odonto Onycho Dysplasia with Alopecia |
13 |
1797 |
|
EVR001 |
Eversion of Lacrimal Punctum |
12 |
1798 |
|
SYN120 |
Syndromic Oculocutaneous Albinism |
12 |
1799 |
|
SPS184 |
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome |
12 |
1800 |
c
|
HLL012 |
Hallermann-Streiff-Like Syndrome |
12 |
1801 |
|
TRR003 |
Terrien Marginal Degeneration |
11 |
1802 |
|
ISL128 |
Isolated Microspherophakia |
11 |
1803 |
c
|
IDP048 |
Idiopathic Posterior Uveitis |
11 |
1804 |
|
NRP069 |
Neuro-Ophthalmological Disease |
11 |
1805 |
|
ISL065 |
Isolated Congenital Alacrima |
10 |
1806 |
c
|
RRC027 |
Rare Corneal Disorder |
10 |
1807 |
c
|
MSC205 |
Mosaic Variegated Aneuploidy Syndrome 4 |
10 |
1808 |
|
ISL064 |
Isolated Ankyloblepharon Filiforme Adnatum |
9 |
1809 |
|
CNG458 |
Congenital Abducens Nerve Palsy |
9 |
1810 |
|
MCH015 |
Machado-Joseph Disease and Spinocerebellar Ataxia |
9 |
1811 |
|
FND005 |
Fundus Pulverulentus |
9 |
1812 |
c
|
MLT169 |
Multiple Mitochondrial Dna Deletion Syndrome |
8 |
1813 |
c
|
RRR006 |
Rare Retinal Disorder |
8 |
1814 |
|
CNJ008 |
Conjunctival Concretion |
7 |
1815 |
|
PRS018 |
Parasitic Eyelid Infestation |
7 |
1816 |
c
|
TXC018 |
Toxic Maculopathy Due to Antimalarial Drugs |
7 |
1817 |
|
RRD062 |
Rare Disorder with Lens Opacification |
7 |
1818 |
c
|
JVN062 |
Juvenile-Onset Steinert Myotonic Dystrophy |
6 |
1819 |
|
XLN221 |
X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome |
6 |
1820 |
|
NLX005 |
Neu-Laxova Syndrome Due to Phosphoserine Aminotransferase Deficiency |
6 |
1821 |
|
NRL040 |
Neurological Complications of Lyme Disease |
6 |
1822 |
|
PFF003 |
Pfeiffer Mayer Syndrome |
6 |
1823 |
|
ATS361 |
Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome |
6 |
1824 |
|
LNS008 |
Lens Position Anomaly |
5 |
1825 |
c
|
SCN083 |
Secondary Early-Onset Glaucoma |
5 |
1826 |
|
ERL027 |
Early-Onset Non-Syndromic Cataract |
5 |
1827 |
|
ANT015 |
Anatomical Narrow Angle Borderline Glaucoma |
5 |
1828 |
c
|
PRM303 |
Primary Early-Onset Glaucoma |
5 |
1829 |
|
SYN152 |
Syndromic Keratoconus |
5 |
1830 |
|
CNG588 |
Congenital Optic Disc Excavation |
5 |
1831 |
|
ACT252 |
Acute Disseminated Encephalomyelitis with Anti-Mog Antibodies |
5 |
1832 |
c
|
SYS074 |
Systemic Diseases with Anterior Uveitis |
5 |
1833 |
c
|
GLC034 |
Glaucoma, Hereditary Juvenile Type 1b |
5 |
1834 |
c
|
GLC029 |
Glaucoma Type 1c |
5 |
1835 |
|
ISL126 |
Isolated Iridoschisis |
5 |
1836 |
c
|
GLC033 |
Glaucoma, Hereditary Adult Type 1a |
5 |
1837 |
c
|
GLC035 |
Glaucoma, Primary Infantile Type 3a |
5 |
1838 |
c
|
FRG006 |
Fragile X Syndrome Type 3 |
4 |
1839 |
c
|
FRG004 |
Fragile X Syndrome Type 1 |
4 |
1840 |
c
|
FRG005 |
Fragile X Syndrome Type 2 |
4 |
1841 |
|
PRN060 |
Paraneoplastic Uveitis |
4 |
1842 |
|
PDT047 |
Pediatric-Onset Glaucoma |
4 |
1843 |
|
SYN128 |
Syndromic Macular Dystrophy |
4 |
1844 |
|
IDP050 |
Idiopathic Linear Interstitial Keratitis |
4 |
1845 |
|
CNG597 |
Congenital Malformation of the Eyelid |
4 |
1846 |
|
SYN154 |
Syndromic Disorder with Strabismus |
4 |
1847 |
c
|
RRD045 |
Rare Disorder with Ectropion |
4 |
1848 |
|
ANT094 |
Anterior Segment Developmental Anomaly Without Extraocular Manifestations |
4 |
1849 |
c
|
SYS076 |
Systemic Diseases with Posterior Uveitis |
4 |
1850 |
c
|
RRD064 |
Rare Disorder with Strabismus |
4 |
1851 |
P
|
ISL148 |
Isolated Inherited Retinal Disorder |
4 |
1852 |
|
RRR012 |
Rare Refraction Anomaly |
4 |
1853 |
c
|
RRN016 |
Rare Inflammatory/autoimmune Corneal Disorder |
4 |
1854 |
|
SYN125 |
Syndromic Vitreoretinopathy |
4 |
1855 |
|
CRB216 |
Cerebellar Hyplasia/atrophy, Epilepsy, and Global Developmental Delay |
4 |
1856 |
|
RRC024 |
Rare Ocular Motility/alignment Disorder |
3 |
1857 |
|
RRP023 |
Rare Ophthalmic Disorder with Cortical Involvement |
3 |
1858 |
|
RRC025 |
Rare Choroidal Disorder |
3 |
1859 |
|
RRH031 |
Rare Hyperopia and Astigmatism |
3 |
1860 |
|
RRD063 |
Rare Disease with Glaucoma As a Major Feature |
3 |
1861 |
|
RNL124 |
Renal Disease with Cataract |
3 |
1862 |
|
MSC198 |
Musculoskeletal Disease with Cataract |
3 |
1863 |
|
CRN312 |
Craniofacial Anomaly with Cataract |
3 |
1864 |
|
DNT052 |
Dentocutaneous Disease with Cataract |
3 |
1865 |
c
|
MSC166 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 |
34 |
1866 |
c
|
MSC167 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 |
32 |
1867 |
c
|
MSC127 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 |
33 |
1868 |
c
|
MSC101 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 |
34 |
1869 |
c
|
MSC043 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 |
33 |
1870 |
c
|
MSC102 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 |
30 |
1871 |
c
|
MSC041 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 |
29 |
1872 |
c
|
MSC105 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 |
29 |
1873 |
c
|
MSC034 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 |
29 |
1874 |
c
|
MSC107 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 |
25 |
1875 |
c
|
CNG557 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 |
32 |
1876 |
c
|
CNG547 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 |
29 |
1877 |
c
|
CNG551 |
Congenital Muscular Dystrophy-Dystroglycanopathy A7 |
27 |
1878 |
c
|
CNG559 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 |
22 |
1879 |
c
|
CNG555 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 |
9 |
1880 |
|
NSC005 |
Nescav Syndrome |
45 |
1881 |
|
NRD057 |
Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects |
30 |
1882 |
c
|
CNG558 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 |
27 |
1883 |
c
|
CNG552 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 |
22 |
1884 |
P
|
WRD001 |
Waardenburg's Syndrome |
57 |
1885 |
|
PBL005 |
Piebald Trait |
59 |
1886 |
|
CRP032 |
Corpus Callosum, Agenesis of |
55 |
1887 |
|
MYP086 |
Myopathy with Extrapyramidal Signs |
47 |
1888 |
|
ATX047 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation |
17 |
1889 |
|
NRD177 |
Neurodevelopmental Disorder with Eye Movement Abnormalities and Ataxia |
17 |
1890 |
P
|
MLN008 |
Melanoma |
74 |
1891 |
|
SPN209 |
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations |
69 |
1892 |
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
64 |
1893 |
|
PPL058 |
Papilloma of Choroid Plexus |
55 |
1894 |
|
HMN009 |
Hemangioblastoma |
54 |
1895 |
c
|
CHR516 |
Charcot-Marie-Tooth Disease, Type 4c |
51 |
1896 |
c
|
CHR519 |
Charcot-Marie-Tooth Disease, Type 4b2 |
51 |
1897 |
|
SPN060 |
Spondylocarpotarsal Synostosis Syndrome |
50 |
1898 |
c
|
CHR422 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
50 |
1899 |
c
|
CHR376 |
Charcot-Marie-Tooth Disease, Type 4d |
50 |
1900 |
c
|
PRM226 |
Primary Central Nervous System Lymphoma |
49 |
1901 |
c
|
CHR517 |
Charcot-Marie-Tooth Disease, Type 4a |
49 |
1902 |
c
|
CHR420 |
Charcot-Marie-Tooth Disease, Type 4j |
49 |
1903 |
|
CRD075 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
49 |
1904 |
P
|
CNT005 |
Central Nervous System Lymphoma |
49 |
1905 |
c
|
CHR521 |
Charcot-Marie-Tooth Disease, Type 4b1 |
47 |
1906 |
c
|
CHR504 |
Charcot-Marie-Tooth Disease, Type 4b3 |
46 |
1907 |
c
|
CHR421 |
Charcot-Marie-Tooth Disease, Type 4h |
46 |
1908 |
|
CNT019 |
Central Neurocytoma |
44 |
1909 |
c
|
CHR371 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
43 |
1910 |
c
|
CHR522 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
41 |
1911 |
c
|
CHR609 |
Charcot-Marie-Tooth Disease, Type 4k |
40 |
1912 |
c
|
CHR658 |
Charcot-Marie-Tooth Disease, Recessive Intermediate a |
40 |
1913 |
c
|
CHR666 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
37 |
1914 |
c
|
HRD223 |
Hereditary Melanoma |
37 |
1915 |
c
|
CHR484 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
37 |
1916 |
c
|
CHR480 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
37 |
1917 |
P
|
KRT014 |
Keratosis Follicularis Spinulosa Decalvans |
35 |
1918 |
c
|
CHR025 |
Charcot-Marie-Tooth Disease Intermediate Type |
35 |
1919 |
c
|
KRT073 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
34 |
1920 |
c
|
CHR481 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
34 |
1921 |
c
|
CHR699 |
Charcot-Marie-Tooth Disease Type 2a2a |
31 |
1922 |
c
|
CHR514 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
29 |
1923 |
c
|
CHR026 |
Charcot-Marie-Tooth Disease Type X |
28 |
1924 |
c
|
CHR701 |
Charcot-Marie-Tooth Disease Type 1g |
26 |
1925 |
c
|
CHR700 |
Charcot-Marie-Tooth Disease Type 2a2b |
26 |
1926 |
c
|
CHR717 |
Charcot-Marie-Tooth Disease Dominant Intermediate a |
25 |
1927 |
|
NRD099 |
Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity |
25 |
1928 |
c
|
CHR676 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
25 |
1929 |
|
TTR024 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities |
25 |
1930 |
c
|
CHR571 |
Charcot-Marie-Tooth Disease Type 5 |
23 |
1931 |
|
CHR730 |
Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsiv |
23 |
1932 |
|
RCH010 |
Richieri-Costa/guion-Almeida Syndrome |
22 |
1933 |
|
DRM042 |
Dermatoosteolysis, Kirghizian Type |
22 |
1934 |
c
|
CHR135 |
Charcot-Marie-Tooth Disease Type 2a |
19 |
1935 |
c
|
ATS272 |
Autosomal Dominant Intermediate Charcot-Marie-Tooth |
15 |
1936 |
c
|
ATS274 |
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease |
13 |
1937 |
|
MNT316 |
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature |
12 |
1938 |
c
|
ATS289 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation |
8 |
1939 |
c
|
ATS092 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation |
8 |
1940 |
c
|
ATS363 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation |
7 |
1941 |
c
|
CHR572 |
Charcot-Marie-Tooth Disease Type 7 |
5 |
1942 |
P
|
PRK057 |
Parkinson Disease, Late-Onset |
81 |
1943 |
|
SCH036 |
Scheie Syndrome |
75 |
1944 |
P
|
MYT021 |
Myotonic Dystrophy 1 |
74 |
1945 |
|
WLS001 |
Wilson Disease |
72 |
1946 |
P
|
SRC025 |
Sarcoidosis 1 |
71 |
1947 |
c
|
NMN015 |
Niemann-Pick Disease, Type C1 |
71 |
1948 |
P
|
TYS001 |
Tay-Sachs Disease |
71 |
1949 |
|
DWN001 |
Down Syndrome |
71 |
1950 |
c
|
GCH015 |
Gaucher Disease, Type I |
70 |
1951 |
P
|
DYS007 |
Dyskeratosis Congenita |
69 |
1952 |
c
|
MCL062 |
Mucolipidosis Ii Alpha/beta |
69 |
1953 |
|
CHD001 |
Chediak-Higashi Syndrome |
69 |
1954 |
c
|
HRD010 |
Hereditary Spastic Paraplegia |
68 |
1955 |
P
|
MCK013 |
Meckel Syndrome, Type 1 |
67 |
1956 |
|
ATX029 |
Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia |
67 |
1957 |
P
|
ALP004 |
Alport Syndrome |
67 |
1958 |
|
KRT019 |
Keratitis, Hereditary |
67 |
1959 |
P
|
ECT062 |
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
67 |
1960 |
P
|
CCK001 |
Cockayne Syndrome |
67 |
1961 |
|
CHR593 |
Chromosome 16p13.3 Deletion Syndrome, Proximal |
67 |
1962 |
P
|
HLP001 |
Holoprosencephaly |
66 |
1963 |
P
|
CNJ013 |
Conjunctivitis |
66 |
1964 |
c
|
CRB175 |
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 |
66 |
1965 |
c
|
MCL013 |
Mucolipidosis Iv |
66 |
1966 |
|
CRZ001 |
Crouzon Syndrome |
65 |
1967 |
|
SPT006 |
Septooptic Dysplasia |
65 |
1968 |
|
BLS001 |
Blau Syndrome |
64 |
1969 |
|
INT323 |
Intraocular Pressure Quantitative Trait Locus |
64 |
1970 |
P
|
HRD008 |
Hereditary Hemorrhagic Telangiectasia |
64 |
1971 |
P
|
ATS308 |
Autosomal Dominant Cerebellar Ataxia |
64 |
1972 |
P
|
PRT008 |
Proteus Syndrome |
63 |
1973 |
P
|
SHR029 |
Short Syndrome |
63 |
1974 |
c
|
CRD186 |
Ceroid Lipofuscinosis, Neuronal, 3 |
63 |
1975 |
|
NRR002 |
Norrie Disease |
62 |
1976 |
c
|
PRK089 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
62 |
1977 |
c
|
NMN016 |
Niemann-Pick Disease, Type B |
62 |
1978 |
|
NRM001 |
Neuromyelitis Optica |
62 |
1979 |
|
VTR013 |
Vitreoretinopathy, Neovascular Inflammatory |
62 |
1980 |
c
|
DVL042 |
Developmental and Epileptic Encephalopathy 14 |
62 |
1981 |
P
|
NPH005 |
Nephronophthisis |
62 |
1982 |
c
|
SPS222 |
Spastic Paraplegia 20, Autosomal Recessive |
61 |
1983 |
c
|
DVL030 |
Developmental and Epileptic Encephalopathy 36 |
61 |
1984 |
|
MRS002 |
Marshall Syndrome |
61 |
1985 |
P
|
STS001 |
Sotos Syndrome |
61 |
1986 |
P
|
ACH003 |
Achromatopsia |
60 |
1987 |
P
|
RTN209 |
Retinoschisis 1, X-Linked, Juvenile |
60 |
1988 |
|
RTN017 |
Retinal Detachment |
60 |
1989 |
P
|
NMN002 |
Niemann-Pick Disease |
60 |
1990 |
P
|
MCR010 |
Microcephaly |
59 |
1991 |
c
|
MCR241 |
Microphthalmia, Syndromic 3 |
59 |
1992 |
c
|
WLF013 |
Wolfram Syndrome 1 |
59 |
1993 |
|
CRN005 |
Craniofrontonasal Syndrome |
59 |
1994 |
c
|
SPS128 |
Spastic Paraplegia 7, Autosomal Recessive |
59 |
1995 |
c
|
ICH047 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
59 |
1996 |
|
ENH001 |
Enhanced S-Cone Syndrome |
59 |
1997 |
c
|
CCK008 |
Cockayne Syndrome a |
58 |
1998 |
c
|
TLN006 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
58 |
1999 |
c
|
OST080 |
Osteogenesis Imperfecta, Type Ii |
58 |
2000 |
P
|
ISL078 |
Isolated Ectopia Lentis |
58 |
2001 |
P
|
KHL003 |
Kohlschutter-Tonz Syndrome |
57 |
2002 |
P
|
WLF004 |
Wolfram Syndrome |
57 |
2003 |
|
BRN004 |
Brain Edema |
57 |
2004 |
P
|
OPT009 |
Optic Neuritis |
57 |
2005 |
c
|
FML116 |
Familial Cold Autoinflammatory Syndrome 1 |
57 |
2006 |
c
|
DVL033 |
Developmental and Epileptic Encephalopathy 1 |
57 |
2007 |
P
|
JNC001 |
Junctional Epidermolysis Bullosa |
57 |
2008 |
c
|
MCL046 |
Mucolipidosis Iii Alpha/beta |
57 |
2009 |
|
TSY002 |
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations |
56 |
2010 |
P
|
MCR258 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
56 |
2011 |
c
|
HLP023 |
Holoprosencephaly 1 |
56 |
2012 |
P
|
CRN231 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
56 |
2013 |
c
|
SPN291 |
Spinocerebellar Ataxia 7 |
55 |
2014 |
c
|
SPS215 |
Spastic Paraplegia 3, Autosomal Dominant |
55 |
2015 |
c
|
MCP046 |
Mucopolysaccharidosis, Type Iiid |
55 |
2016 |
|
LKC005 |
Leukocyte Adhesion Deficiency, Type Iii |
55 |
2017 |
P
|
FML052 |
Familial Cold Autoinflammatory Syndrome |
55 |
2018 |
c
|
PRK086 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
55 |
2019 |
P
|
WLL002 |
Weill-Marchesani Syndrome |
55 |
2020 |
|
CCT002 |
Cicatricial Pemphigoid |
55 |
2021 |
P
|
PRG040 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 |
54 |
2022 |
|
NVS001 |
Neovascular Glaucoma |
54 |
2023 |
c
|
MCR240 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
54 |
2024 |
c
|
DVL038 |
Developmental and Epileptic Encephalopathy 7 |
54 |
2025 |
P
|
NRC002 |
Narcolepsy |
54 |
2026 |
P
|
SPN429 |
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 |
54 |
2027 |
c
|
RHZ011 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
54 |
2028 |
|
GLL028 |
Gillespie Syndrome |
54 |
2029 |
c
|
EPD115 |
Epidermolysis Bullosa, Junctional 1b, Severe |
54 |
2030 |
c
|
OST121 |
Osteogenesis Imperfecta, Type Iv |
54 |
2031 |
c
|
NRC009 |
Narcolepsy 1 |
54 |
2032 |
|
NRP045 |
Neuropathy, Ataxia, and Retinitis Pigmentosa |
53 |
2033 |
c
|
USH038 |
Usher Syndrome, Type Iiia |
53 |
2034 |
P
|
PTS002 |
Ptosis |
53 |
2035 |
c
|
PNT034 |
Pontocerebellar Hypoplasia, Type 2e |
53 |
2036 |
P
|
OPN001 |
Open-Angle Glaucoma |
53 |
2037 |
c
|
DVL029 |
Developmental and Epileptic Encephalopathy 2 |
53 |
2038 |
c
|
NMN014 |
Niemann-Pick Disease, Type C2 |
53 |
2039 |
c
|
PNT057 |
Pontocerebellar Hypoplasia, Type 1e |
52 |
2040 |
|
OCL006 |
Ocular Hypertension |
52 |
2041 |
c
|
DVL027 |
Developmental and Epileptic Encephalopathy 9 |
52 |
2042 |
c
|
MCL066 |
Macular Dystrophy, Vitelliform, 2 |
52 |
2043 |
P
|
ECT100 |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 |
52 |
2044 |
|
WLF002 |
Wolf-Hirschhorn Syndrome |
52 |
2045 |
c
|
SPS151 |
Spastic Paraplegia 11, Autosomal Recessive |
52 |
2046 |
c
|
HLP026 |
Holoprosencephaly 3 |
52 |
2047 |
|
ANM046 |
Anemia, Sideroblastic, and Spinocerebellar Ataxia |
52 |
2048 |
c
|
CRD182 |
Ceroid Lipofuscinosis, Neuronal, 10 |
52 |
2049 |
P
|
DVL113 |
Developmental and Epileptic Encephalopathy |
51 |
2050 |
c
|
EPD114 |
Epidermolysis Bullosa, Junctional 1a, Intermediate |
51 |
2051 |
c
|
PRM031 |
Primary Autosomal Recessive Microcephaly |
51 |
2052 |
c
|
MCR263 |
Microphthalmia, Syndromic 1 |
51 |
2053 |
c
|
HRD026 |
Hereditary Ataxia |
51 |
2054 |
|
KRT006 |
Keratoconjunctivitis |
51 |
2055 |
P
|
NLX004 |
Neu-Laxova Syndrome 1 |
51 |
2056 |
c
|
PRG059 |
Progressive Cone Dystrophy |
51 |
2057 |
P
|
CRN025 |
Corneal Dystrophy |
51 |
2058 |
P
|
MTH008 |
Methylmalonic Acidemia |
51 |
2059 |
P
|
CLR019 |
Color Blindness |
51 |
2060 |
c
|
HRD173 |
Hereditary Late-Onset Parkinson Disease |
51 |
2061 |
|
BRD025 |
Birdshot Chorioretinopathy |
51 |
2062 |
c
|
SPS117 |
Spastic Paraplegia 10, Autosomal Dominant |
51 |
2063 |
c
|
PRK085 |
Parkinson Disease 1, Autosomal Dominant |
51 |
2064 |
c
|
CNG513 |
Congenital Ptosis |
51 |
2065 |
c
|
MGR032 |
Migraine, Familial Hemiplegic, 1 |
51 |
2066 |
c
|
FML253 |
Familial Cold Autoinflammatory Syndrome 3 |
51 |
2067 |
P
|
PNV001 |
Panuveitis |
51 |
2068 |
|
CRZ002 |
Crouzon Syndrome with Acanthosis Nigricans |
50 |
2069 |
c
|
HLP025 |
Holoprosencephaly 9 |
50 |
2070 |
c
|
PRG131 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 |
50 |
2071 |
c
|
USH040 |
Usher Syndrome, Type Id |
50 |
2072 |
|
NRN005 |
Neuronal Ceroid-Lipofuscinoses |
50 |
2073 |
c
|
INT483 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
50 |
2074 |
c
|
ATS307 |
Autosomal Recessive Cerebellar Ataxia |
50 |
2075 |
c
|
DVL041 |
Developmental and Epileptic Encephalopathy 13 |
50 |
2076 |
c
|
SPS147 |
Spastic Paraplegia 4, Autosomal Dominant |
50 |
2077 |
|
BNB002 |
Bainbridge-Ropers Syndrome |
50 |
2078 |
c
|
SRC023 |
Sarcoidosis 2 |
50 |
2079 |
|
ANK017 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate |
50 |
2080 |
c
|
HRD227 |
Hereditary Spastic Paraplegia 35 |
50 |
2081 |
P
|
KRT007 |
Keratoconus |
50 |
2082 |
P
|
MCL001 |
Mucolipidosis |
50 |
2083 |
c
|
PNT049 |
Pontocerebellar Hypoplasia, Type 2d |
50 |
2084 |
c
|
HNT004 |
Huntington Disease-Like 2 |
49 |
2085 |
c
|
MCL016 |
Mucolipidosis Iii Gamma |
49 |
2086 |
|
IRD001 |
Iridocyclitis |
49 |
2087 |
c
|
SPS210 |
Spastic Paraplegia 76, Autosomal Recessive |
49 |
2088 |
P
|
SPS133 |
Spastic Paraplegia 2, X-Linked |
49 |
2089 |
c
|
PRG130 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 |
49 |
2090 |
c
|
CHR095 |
Chronic Progressive External Ophthalmoplegia |
49 |
2091 |
c
|
JVN041 |
Juvenile Nephronophthisis |
49 |
2092 |
c
|
HYP575 |
Hypotrichosis 7 |
49 |
2093 |
|
KRT001 |
Keratoconjunctivitis Sicca |
49 |
2094 |
c
|
MGR030 |
Migraine, Familial Hemiplegic, 2 |
49 |
2095 |
c
|
NPH019 |
Nephronophthisis 1 |
49 |
2096 |
|
MGL003 |
Megalocornea |
49 |
2097 |
c
|
MCR239 |
Microcephaly 5, Primary, Autosomal Recessive |
49 |
2098 |
|
CRN049 |
Craniolenticulosutural Dysplasia |
48 |
2099 |
P
|
RTN014 |
Retinal Artery Occlusion |
48 |
2100 |
P
|
SCL015 |
Scleritis |
48 |
2101 |
|
CRN027 |
Corneal Neovascularization |
48 |
2102 |
|
BLC001 |
Blue Cone Monochromacy |
48 |
2103 |
c
|
PNT036 |
Pontocerebellar Hypoplasia, Type 6 |
48 |
2104 |
c
|
PRG039 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 |
48 |
2105 |
c
|
PRK071 |
Parkinson Disease 14, Autosomal Recessive |
48 |
2106 |
c
|
NPH030 |
Nephronophthisis 2 |
48 |
2107 |
c
|
SPS127 |
Spastic Paraplegia 6, Autosomal Dominant |
48 |
2108 |
c
|
DYS152 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
48 |
2109 |
c
|
MGR031 |
Migraine, Familial Hemiplegic, 3 |
48 |
2110 |
|
CRY008 |
Cryopyrin-Associated Periodic Syndrome |
48 |
2111 |
c
|
MCK032 |
Meckel Syndrome, Type 3 |
47 |
2112 |
c
|
SPS219 |
Spastic Paraplegia 17, Autosomal Dominant |
47 |
2113 |
c
|
MCK033 |
Meckel Syndrome, Type 4 |
47 |
2114 |
c
|
PRK092 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
47 |
2115 |
c
|
HLP027 |
Holoprosencephaly 7 |
47 |
2116 |
c
|
SPS103 |
Spastic Paraplegia 50, Autosomal Recessive |
47 |
2117 |
c
|
PRG038 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 |
47 |
2118 |
P
|
CHN074 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
47 |
2119 |
c
|
MCK031 |
Meckel Syndrome, Type 2 |
47 |
2120 |
c
|
NPH032 |
Nephronophthisis 4 |
47 |
2121 |
c
|
DVL035 |
Developmental and Epileptic Encephalopathy 4 |
47 |
2122 |
c
|
CRN241 |
Corneal Dystrophy, Congenital Stromal |
47 |
2123 |
|
ALN001 |
Aland Island Eye Disease |
47 |
2124 |
|
MLG142 |
Malignant Conjunctival Melanoma |
47 |
2125 |
|
PRS012 |
Pars Planitis |
47 |
2126 |
c
|
FML117 |
Familial Cold Autoinflammatory Syndrome 2 |
47 |
2127 |
c
|
PNT018 |
Pontocerebellar Hypoplasia, Type 1b |
47 |
2128 |
c
|
WRD024 |
Waardenburg Syndrome, Type 4c |
47 |
2129 |
c
|
WRD031 |
Waardenburg Syndrome, Type 3 |
46 |
2130 |
c
|
MCK030 |
Meckel Syndrome, Type 7 |
46 |
2131 |
|
RTN001 |
Retinal Vasculitis |
46 |
2132 |
P
|
PNT019 |
Pontocerebellar Hypoplasia |
46 |
2133 |
|
AYM001 |
Ayme-Gripp Syndrome |
46 |
2134 |
c
|
SPS148 |
Spastic Paraplegia 31, Autosomal Dominant |
46 |
2135 |
c
|
SPS203 |
Spastic Paraplegia 78, Autosomal Recessive |
46 |
2136 |
c
|
XLN229 |
X-Linked Chondrodysplasia Punctata 2 |
46 |
2137 |
c
|
DYS143 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
46 |
2138 |
|
CLB026 |
Colobomatous Microphthalmia |
46 |
2139 |
c
|
MCL060 |
Macular Dystrophy, Vitelliform, 3 |
46 |
2140 |
c
|
HNT010 |
Huntington Disease-Like 1 |
46 |
2141 |
c
|
INT520 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
46 |
2142 |
c
|
PNT043 |
Pontocerebellar Hypoplasia, Type 4 |
46 |
2143 |
c
|
MCK014 |
Meckel Syndrome, Type 5 |
46 |
2144 |
c
|
DVL118 |
Developmental and Epileptic Encephalopathy 94 |
46 |
2145 |
c
|
SPN335 |
Spinocerebellar Ataxia Type 1 with Axonal Neuropathy |
46 |
2146 |
|
RTN002 |
Retinal Perforation |
45 |
2147 |
c
|
USH041 |
Usher Syndrome, Type if |
45 |
2148 |
c
|
HLP016 |
Holoprosencephaly 11 |
45 |
2149 |
|
CRN045 |
Corneal Dystrophy and Perceptive Deafness |
45 |
2150 |
c
|
PRK065 |
Parkinson Disease 20, Early-Onset |
45 |
2151 |
c
|
DYS141 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
45 |
2152 |
c
|
MCK012 |
Meckel Syndrome, Type 6 |
45 |
2153 |
c
|
DVL048 |
Developmental and Epileptic Encephalopathy 21 |
45 |
2154 |
c
|
MCR247 |
Microcephaly 1, Primary, Autosomal Recessive |
45 |
2155 |
c
|
SPS109 |
Spastic Paraplegia 46, Autosomal Recessive |
45 |
2156 |
|
GLT018 |
Glut1 Deficiency Syndrome 1 |
45 |
2157 |
|
ANG062 |
Angioosteohypertrophic Syndrome |
45 |
2158 |
c
|
DVL039 |
Developmental and Epileptic Encephalopathy 11 |
45 |
2159 |
c
|
SPS116 |
Spastic Paraplegia 26, Autosomal Recessive |
45 |
2160 |
c
|
SPS106 |
Spastic Paraplegia 54, Autosomal Recessive |
45 |
2161 |
c
|
PNT045 |
Pontocerebellar Hypoplasia, Type 1a |
45 |
2162 |
|
INF006 |
Infant Botulism |
45 |
2163 |
|
DBT090 |
Diabetes and Deafness, Maternally Inherited |
45 |
2164 |
|
PGM007 |
Pigmented Paravenous Chorioretinal Atrophy |
45 |
2165 |
c
|
HRD220 |
Hereditary Spastic Paraplegia 30 |
45 |
2166 |
c
|
NPH053 |
Nephronophthisis 11 |
45 |
2167 |
c
|
SPS108 |
Spastic Paraplegia 5a, Autosomal Recessive |
44 |
2168 |
c
|
NPH075 |
Nephronophthisis 18 |
44 |
2169 |
c
|
PRK093 |
Parkinson Disease 8, Autosomal Dominant |
44 |
2170 |
c
|
CRB170 |
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 |
44 |
2171 |
|
CRN247 |
Corneal Dystrophy, Thiel-Behnke Type |
44 |
2172 |
c
|
USH021 |
Usher Syndrome, Type Iid |
44 |
2173 |
c
|
HLP029 |
Holoprosencephaly 4 |
44 |
2174 |
c
|
NPH069 |
Nephronophthisis 15 |
44 |
2175 |
|
SLW006 |
Saul-Wilson Syndrome |
44 |
2176 |
|
RTN021 |
Retinal Vascular Occlusion |
44 |
2177 |
P
|
BLP003 |
Blepharospasm |
44 |
2178 |
c
|
SPS107 |
Spastic Paraplegia 18, Autosomal Recessive |
44 |
2179 |
c
|
DVL056 |
Developmental and Epileptic Encephalopathy 30 |
44 |
2180 |
c
|
NPH071 |
Nephronophthisis 14 |
44 |
2181 |
c
|
SPS129 |
Spastic Paraplegia 39, Autosomal Recessive |
44 |
2182 |
c
|
DVL068 |
Developmental and Epileptic Encephalopathy 43 |
44 |
2183 |
|
STR094 |
Stromme Syndrome |
44 |
2184 |
c
|
SHR030 |
Short Qt Syndrome |
44 |
2185 |
c
|
PNT044 |
Pontocerebellar Hypoplasia, Type 2a |
44 |
2186 |
c
|
WLL036 |
Weill-Marchesani Syndrome 1 |
44 |
2187 |
c
|
PNT032 |
Pontocerebellar Hypoplasia, Type 9 |
44 |
2188 |
c
|
SPS149 |
Spastic Paraplegia 8, Autosomal Dominant |
44 |
2189 |
|
CRB159 |
Cerebral Visual Impairment |
44 |
2190 |
c
|
ECT042 |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 |
43 |
2191 |
c
|
DVL099 |
Developmental and Epileptic Encephalopathy 75 |
43 |
2192 |
c
|
USH042 |
Usher Syndrome, Type Ig |
43 |
2193 |
c
|
SPS152 |
Spastic Paraplegia 51, Autosomal Recessive |
43 |
2194 |
c
|
SPS095 |
Spastic Paraplegia 47, Autosomal Recessive |
43 |
2195 |
c
|
PRK021 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
43 |
2196 |
c
|
WRB004 |
Warburg Micro Syndrome 3 |
43 |
2197 |
c
|
CNT028 |
Central Retinal Artery Occlusion |
43 |
2198 |
c
|
SPS130 |
Spastic Paraplegia 43, Autosomal Recessive |
43 |
2199 |
c
|
SPS071 |
Spastic Paraplegia 48, Autosomal Recessive |
43 |
2200 |
c
|
PRK052 |
Parkinson Disease 17 |
43 |
2201 |
c
|
DYS147 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
43 |
2202 |
c
|
PNT051 |
Pontocerebellar Hypoplasia, Type 1d |
43 |
2203 |
c
|
BRD017 |
Bardet-Biedl Syndrome 5 |
43 |
2204 |
c
|
NPH068 |
Nephronophthisis 16 |
43 |
2205 |
c
|
NLX003 |
Neu-Laxova Syndrome 2 |
43 |
2206 |
c
|
MCR223 |
Microcephaly 10, Primary, Autosomal Recessive |
43 |
2207 |
c
|
CRD239 |
Ceroid Lipofuscinosis, Neuronal, 13 |
43 |
2208 |
c
|
INT548 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
43 |
2209 |
c
|
DVL067 |
Developmental and Epileptic Encephalopathy 42 |
43 |
2210 |
c
|
DVL044 |
Developmental and Epileptic Encephalopathy 16 |
43 |
2211 |
|
CHR211 |
Chromosome 18p Deletion Syndrome |
43 |
2212 |
c
|
DVL077 |
Developmental and Epileptic Encephalopathy 53 |
42 |
2213 |
c
|
SPS157 |
Spastic Paraplegia 64, Autosomal Recessive |
42 |
2214 |
c
|
SPS160 |
Spastic Paraplegia 73, Autosomal Dominant |
42 |
2215 |
c
|
NPH031 |
Nephronophthisis 3 |
42 |
2216 |
c
|
BCT006 |
Bacterial Conjunctivitis |
42 |
2217 |
c
|
NPH035 |
Nephronophthisis 9 |
42 |
2218 |
c
|
INT538 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
42 |
2219 |
c
|
ALP105 |
Alport Syndrome 2, Autosomal Recessive |
42 |
2220 |
c
|
NPH077 |
Nephronophthisis 19 |
42 |
2221 |
c
|
ALP104 |
Alport Syndrome 3, Autosomal Dominant |
42 |
2222 |
c
|
LBR011 |
Leber Congenital Amaurosis 16 |
42 |
2223 |
c
|
DVL076 |
Developmental and Epileptic Encephalopathy 52 |
42 |
2224 |
|
PRS025 |
Presbyopia |
42 |
2225 |
c
|
DVL037 |
Developmental and Epileptic Encephalopathy 5 |
42 |
2226 |
c
|
MCR255 |
Microcephaly 9, Primary, Autosomal Recessive |
42 |
2227 |
c
|
DYS149 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
42 |
2228 |
c
|
DVL049 |
Developmental and Epileptic Encephalopathy 23 |
42 |
2229 |
c
|
SPS104 |
Spastic Paraplegia 53, Autosomal Recessive |
42 |
2230 |
|
CRN106 |
Corneal Dystrophy, Gelatinous Drop-Like |
42 |
2231 |
c
|
SPS124 |
Spastic Paraplegia 28, Autosomal Recessive |
42 |
2232 |
c
|
DVL062 |
Developmental and Epileptic Encephalopathy 35 |
42 |
2233 |
c
|
MCR320 |
Microcephaly 17, Primary, Autosomal Recessive |
41 |
2234 |
c
|
SPS099 |
Spastic Paraplegia 42, Autosomal Dominant |
41 |
2235 |
c
|
ALB024 |
Albinism, Ocular, Type I |
41 |
2236 |
c
|
PNT035 |
Pontocerebellar Hypoplasia, Type 1c |
41 |
2237 |
|
HMC030 |
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency |
41 |
2238 |
c
|
NRC010 |
Narcolepsy 2 |
41 |
2239 |
c
|
SPS227 |
Spastic Paraplegia 62, Autosomal Recessive |
41 |
2240 |
c
|
SPS097 |
Spastic Paraplegia 13, Autosomal Dominant |
41 |
2241 |
c
|
PRK091 |
Parkinson Disease 4, Autosomal Dominant |
41 |
2242 |
|
MLY010 |
Molybdenum Cofactor Deficiency, Complementation Group C |
41 |
2243 |
c
|
SPS096 |
Spastic Paraplegia 44, Autosomal Recessive |
41 |
2244 |
c
|
WLF009 |
Wolfram Syndrome 2 |
41 |
2245 |
c
|
DVL072 |
Developmental and Epileptic Encephalopathy 47 |
41 |
2246 |
c
|
ECT058 |
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
41 |
2247 |
|
ORB012 |
Orbital Cancer |
41 |
2248 |
c
|
PNT039 |
Pontocerebellar Hypoplasia, Type 7 |
41 |
2249 |
c
|
SPS114 |
Spastic Paraplegia 45, Autosomal Recessive |
41 |
2250 |
c
|
HLP028 |
Holoprosencephaly 5 |
40 |
2251 |
c
|
FML294 |
Familial Short Qt Syndrome |
40 |
2252 |
c
|
MCR236 |
Microcephaly 13, Primary, Autosomal Recessive |
40 |
2253 |
|
FLC002 |
Fleck Retina, Familial Benign |
40 |
2254 |
P
|
CRB188 |
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy |
40 |
2255 |
P
|
KNB001 |
Knobloch Syndrome |
40 |
2256 |
|
CRN141 |
Corneal Dystrophy, Reis-Bucklers Type |
40 |
2257 |
c
|
TLN011 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
40 |
2258 |
c
|
DVL100 |
Developmental and Epileptic Encephalopathy 76 |
40 |
2259 |
P
|
CNG024 |
Congenital Nystagmus |
40 |
2260 |
c
|
SPS228 |
Spastic Paraplegia 63, Autosomal Recessive |
40 |
2261 |
c
|
BLP048 |
Blepharospasm, Benign Essential |
40 |
2262 |
|
BLP004 |
Blepharophimosis |
40 |
2263 |
c
|
DVL045 |
Developmental and Epileptic Encephalopathy 17 |
40 |
2264 |
|
WGN007 |
Wagner Vitreoretinopathy |
39 |
2265 |
c
|
DYS173 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
39 |
2266 |
|
EPD117 |
Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous |
39 |
2267 |
c
|
INT539 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
39 |
2268 |
c
|
SPS159 |
Spastic Paraplegia 9b, Autosomal Recessive |
39 |
2269 |
|
DFN256 |
Deafness and Myopia |
39 |
2270 |
|
TRP014 |
Triploidy |
39 |
2271 |
c
|
PRM212 |
Primary Microcephaly |
39 |
2272 |
c
|
DVL034 |
Developmental and Epileptic Encephalopathy 3 |
39 |
2273 |
c
|
SPS141 |
Spastic Paraplegia 61, Autosomal Recessive |
39 |
2274 |
c
|
DVL061 |
Developmental and Epileptic Encephalopathy 34 |
39 |
2275 |
c
|
DVL098 |
Developmental and Epileptic Encephalopathy 74 |
39 |
2276 |
c
|
INT536 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
39 |
2277 |
c
|
PRK090 |
Parkinson Disease 3, Autosomal Dominant |
39 |
2278 |
c
|
SPS131 |
Spastic Paraplegia 12, Autosomal Dominant |
39 |
2279 |
|
BTH002 |
Bothnia Retinal Dystrophy |
39 |
2280 |
c
|
DVL052 |
Developmental and Epileptic Encephalopathy 26 |
39 |
2281 |
c
|
DVL028 |
Developmental and Epileptic Encephalopathy 8 |
39 |
2282 |
c
|
DYS174 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
39 |
2283 |
c
|
ECT098 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
39 |
2284 |
c
|
INT533 |
Intellectual Developmental Disorder, Autosomal Dominant 13 |
39 |
2285 |
c
|
SPS100 |
Spastic Paraplegia 38, Autosomal Dominant |
39 |
2286 |
c
|
DVL040 |
Developmental and Epileptic Encephalopathy 12 |
39 |
2287 |
|
SNL007 |
Senile Cataract |
39 |
2288 |
c
|
DVL103 |
Developmental and Epileptic Encephalopathy 80 |
39 |
2289 |
|
PRM056 |
Primrose Syndrome |
38 |
2290 |
c
|
DVL073 |
Developmental and Epileptic Encephalopathy 48 |
38 |
2291 |
c
|
PRK100 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
38 |
2292 |
c
|
MCR250 |
Microcephaly 6, Primary, Autosomal Recessive |
38 |
2293 |
P
|
ENT005 |
Entropion |
38 |
2294 |
c
|
MCK034 |
Meckel Syndrome, Type 8 |
38 |
2295 |
c
|
MCR238 |
Microcephaly 7, Primary, Autosomal Recessive |
38 |
2296 |
c
|
SPS122 |
Spastic Paraplegia 52, Autosomal Recessive |
38 |
2297 |
c
|
DVL109 |
Developmental and Epileptic Encephalopathy 87 |
38 |
2298 |
c
|
CRN236 |
Corneal Dystrophy, Lattice Type I |
38 |
2299 |
c
|
DVL060 |
Developmental and Epileptic Encephalopathy 50 |
38 |
2300 |
c
|
DVL053 |
Developmental and Epileptic Encephalopathy 27 |
38 |
2301 |
c
|
NPH033 |
Nephronophthisis 7 |
38 |
2302 |
|
SPN446 |
Spondylometaphyseal Dysplasia with Corneal Dystrophy |
38 |
2303 |
c
|
PNT050 |
Pontocerebellar Hypoplasia, Type 11 |
38 |
2304 |
|
CMB018 |
Combined Oxidative Phosphorylation Deficiency 7 |
38 |
2305 |
c
|
DVL043 |
Developmental and Epileptic Encephalopathy 15 |
38 |
2306 |
|
OCL066 |
Oculogyric Crisis |
38 |
2307 |
c
|
ATS282 |
Autosomal Recessive Malignant Osteopetrosis |
38 |
2308 |
c
|
ERL056 |
Early-Onset Parkinson's Disease |
38 |
2309 |
c
|
ATS525 |
Autosomal Dominant Intellectual Developmental Disorder 8 |
38 |
2310 |
c
|
SPS238 |
Spastic Paraplegia 81, Autosomal Recessive |
37 |
2311 |
c
|
INT542 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
37 |
2312 |
c
|
SPN430 |
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 |
37 |
2313 |
c
|
HLP024 |
Holoprosencephaly 2 |
37 |
2314 |
c
|
SPS232 |
Spastic Paraplegia 80, Autosomal Dominant |
37 |
2315 |
c
|
INT516 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
37 |
2316 |
c
|
INT547 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
37 |
2317 |
c
|
XLN227 |
X-Linked Chondrodysplasia Punctata 1 |
37 |
2318 |
P
|
SCL013 |
Scleral Disease |
37 |
2319 |
c
|
MCR314 |
Microcephaly 16, Primary, Autosomal Recessive |
37 |
2320 |
c
|
MCR329 |
Microcephaly, Autosomal Dominant |
37 |
2321 |
|
DST033 |
Distichiasis |
37 |
2322 |
c
|
MCR270 |
Microcephaly 14, Primary, Autosomal Recessive |
37 |
2323 |
c
|
PNT033 |
Pontocerebellar Hypoplasia, Type 10 |
37 |
2324 |
c
|
SPS206 |
Spastic Paraplegia 77, Autosomal Recessive |
37 |
2325 |
c
|
DVL050 |
Developmental and Epileptic Encephalopathy 24 |
37 |
2326 |
c
|
MCR322 |
Microcephaly 18, Primary, Autosomal Dominant |
37 |
2327 |
c
|
DVL078 |
Developmental and Epileptic Encephalopathy 54 |
36 |
2328 |
P
|
SCL047 |
Sclerocornea |
36 |
2329 |
c
|
EPD123 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
36 |
2330 |
|
HMM004 |
Hamamy Syndrome |
36 |
2331 |
c
|
DVL079 |
Developmental and Epileptic Encephalopathy 55 |
36 |
2332 |
c
|
SPN200 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
36 |
2333 |
c
|
INT513 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
36 |
2334 |
c
|
DVL069 |
Developmental and Epileptic Encephalopathy 44 |
36 |
2335 |
P
|
HRD217 |
Hereditary Optic Neuropathy |
36 |
2336 |
c
|
FML270 |
Familial Cold Autoinflammatory Syndrome 4 |
36 |
2337 |
|
SPN331 |
Spondyloocular Syndrome |
36 |
2338 |
c
|
DYS150 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
36 |
2339 |
c
|
SPS239 |
Spastic Paraplegia 82, Autosomal Recessive |
36 |
2340 |
|
ACT012 |
Acute Hemorrhagic Conjunctivitis |
36 |
2341 |
c
|
INT453 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
36 |
2342 |
c
|
LBR029 |
Leber Congenital Amaurosis 17 |
36 |
2343 |
c
|
DVL097 |
Developmental and Epileptic Encephalopathy 73 |
36 |
2344 |
c
|
MCR248 |
Microcephaly 3, Primary, Autosomal Recessive |
36 |
2345 |
c
|
MCR109 |
Microphthalmia, Isolated 4 |
36 |
2346 |
c
|
ALG016 |
Alagille Syndrome 2 |
36 |
2347 |
c
|
SPS237 |
Spastic Paraplegia 30, Autosomal Dominant |
36 |
2348 |
c
|
CHN028 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
36 |
2349 |
c
|
ATS025 |
Autosomal Dominant Progressive External Ophthalmoplegia |
36 |
2350 |
c
|
SPS123 |
Spastic Paraplegia 32, Autosomal Recessive |
35 |
2351 |
c
|
PRK070 |
Parkinson Disease 21 |
35 |
2352 |
c
|
INT455 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
35 |
2353 |
c
|
MCR246 |
Microcephaly 12, Primary, Autosomal Recessive |
35 |
2354 |
c
|
NPH086 |
Nephronophthisis 20 |
35 |
2355 |
|
MBM001 |
Meibomian Cyst |
35 |
2356 |
c
|
HRD229 |
Hereditary Spastic Paraplegia 56 |
35 |
2357 |
c
|
SPS092 |
Spastic Paraplegia 11 |
35 |
2358 |
|
PNC012 |
Punctate Epithelial Keratoconjunctivitis |
35 |
2359 |
c
|
HNT011 |
Huntington Disease-Like 3 |
35 |
2360 |
|
MCL069 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
35 |
2361 |
|
PRL018 |
Purulent Endophthalmitis |
34 |
2362 |
|
ICH066 |
Ichthyosis--Cheek--Eyebrow Syndrome |
34 |
2363 |
c
|
PNT052 |
Pontocerebellar Hypoplasia, Type 12 |
34 |
2364 |
c
|
CRN146 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
34 |
2365 |
c
|
DVL054 |
Developmental and Epileptic Encephalopathy 28 |
34 |
2366 |
c
|
PRG103 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 |
34 |
2367 |
|
OCL034 |
Oculocerebrocutaneous Syndrome |
34 |
2368 |
c
|
INF147 |
Infantile Nephronophthisis |
34 |
2369 |
c
|
ATS076 |
Autosomal Recessive Stickler Syndrome |
34 |
2370 |
c
|
ANT023 |
Anterior Scleritis |
34 |
2371 |
c
|
MCR356 |
Microcephaly 19, Primary, Autosomal Recessive |
34 |
2372 |
c
|
DVL059 |
Developmental and Epileptic Encephalopathy 33 |
34 |
2373 |
c
|
DVL090 |
Developmental and Epileptic Encephalopathy 66 |
34 |
2374 |
|
RTN135 |
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome |
34 |
2375 |
c
|
DVL057 |
Developmental and Epileptic Encephalopathy 31 |
34 |
2376 |
c
|
USH031 |
Usher Syndrome, Type Ij |
34 |
2377 |
c
|
PNT030 |
Pontocerebellar Hypoplasia, Type 8 |
34 |
2378 |
c
|
PNT042 |
Pontocerebellar Hypoplasia, Type 2f |
34 |
2379 |
P
|
SPS012 |
Spastic Paraplegia 3a |
34 |
2380 |
c
|
PST008 |
Posterior Scleritis |
34 |
2381 |
c
|
INT550 |
Intellectual Developmental Disorder, Autosomal Dominant 41 |
34 |
2382 |
|
NRT011 |
Neurotrophic Keratopathy |
33 |
2383 |
c
|
HRD226 |
Hereditary Spastic Paraplegia 49 |
33 |
2384 |
|
CNJ001 |
Conjugate Gaze Palsy |
33 |
2385 |
c
|
DVL089 |
Developmental and Epileptic Encephalopathy 65 |
33 |
2386 |
c
|
MCR249 |
Microcephaly 11, Primary, Autosomal Recessive |
33 |
2387 |
c
|
MCL070 |
Macular Dystrophy, Patterned, 3 |
33 |
2388 |
c
|
SPS068 |
Spastic Paraplegia 14, Autosomal Recessive |
33 |
2389 |
|
DGN003 |
Degeneration of Macula and Posterior Pole |
33 |
2390 |
|
FML292 |
Familial Drusen |
33 |
2391 |
|
CLS047 |
Classic Progressive Supranuclear Palsy Syndrome |
33 |
2392 |
c
|
MCR254 |
Microcephaly 4, Primary, Autosomal Recessive |
33 |
2393 |
|
CHR386 |
Chromosome 6pter-P24 Deletion Syndrome |
33 |
2394 |
c
|
ECT072 |
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant |
33 |
2395 |
c
|
DVL084 |
Developmental and Epileptic Encephalopathy 60 |
33 |
2396 |
c
|
INT514 |
Intellectual Developmental Disorder, Autosomal Dominant 3 |
32 |
2397 |
P
|
JVN042 |
Juvenile Retinoschisis |
32 |
2398 |
P
|
LTT001 |
Lattice Corneal Dystrophy |
32 |
2399 |
c
|
TRC073 |
Treacher Collins Syndrome 2 |
32 |
2400 |
c
|
INT551 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
32 |
2401 |
P
|
FXG001 |
Foxg1 Syndrome |
32 |
2402 |
c
|
CRD216 |
Ceroid Lipofuscinosis, Neuronal, 9 |
32 |
2403 |
c
|
DVL046 |
Developmental and Epileptic Encephalopathy 18 |
32 |
2404 |
c
|
INT557 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
32 |
2405 |
c
|
CRN303 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
32 |
2406 |
|
MCH006 |
Mechanical Strabismus |
31 |
2407 |
c
|
DVL129 |
Developmental and Epileptic Encephalopathy 25 |
31 |
2408 |
|
NPH018 |
Nephrogenic Systemic Fibrosis |
31 |
2409 |
|
FCL078 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs |
31 |
2410 |
c
|
SPS120 |
Spastic Paraplegia 24, Autosomal Recessive |
31 |
2411 |
P
|
FRT001 |
Fourth Cranial Nerve Palsy |
31 |
2412 |
c
|
SPS243 |
Spastic Paraplegia 85, Autosomal Recessive |
31 |
2413 |
|
KRN001 |
Korean Hemorrhagic Fever |
31 |
2414 |
c
|
STS008 |
Sotos Syndrome 1 |
31 |
2415 |
c
|
DVL119 |
Developmental and Epileptic Encephalopathy 6b |
31 |
2416 |
c
|
PRG102 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 |
31 |
2417 |
c
|
INT507 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
31 |
2418 |
P
|
RRT020 |
Rare Tumor |
31 |
2419 |
c
|
DYS040 |
Dyskeratosis Congenita Autosomal Recessive |
31 |
2420 |
c
|
CCK004 |
Cockayne Syndrome Type Iii |
31 |
2421 |
P
|
ATS522 |
Autosomal Dominant Intellectual Developmental Disorder |
31 |
2422 |
c
|
PNT059 |
Pontocerebellar Hypoplasia, Type 16 |
31 |
2423 |
c
|
SPS102 |
Spastic Paraplegia 25, Autosomal Recessive |
31 |
2424 |
c
|
SPS231 |
Spastic Paraplegia 23, Autosomal Recessive |
31 |
2425 |
c
|
DVL114 |
Developmental and Epileptic Encephalopathy 91 |
31 |
2426 |
c
|
SPS110 |
Spastic Paraplegia 19, Autosomal Dominant |
31 |
2427 |
|
STC017 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
30 |
2428 |
c
|
ALB017 |
Albinism, Oculocutaneous, Type Vi |
30 |
2429 |
c
|
OPT023 |
Optic Atrophy 2 |
30 |
2430 |
|
CHR270 |
Chromosome 9p Duplication |
30 |
2431 |
P
|
CRN249 |
Cornea Plana |
30 |
2432 |
|
CHR167 |
Chorioretinal Atrophy, Progressive Bifocal |
30 |
2433 |
c
|
HLP021 |
Holoprosencephaly 6 |
30 |
2434 |
P
|
FVL008 |
Foveal Hypoplasia 2 |
30 |
2435 |
c
|
INT555 |
Intellectual Developmental Disorder, Autosomal Dominant 46 |
30 |
2436 |
|
PRX072 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
30 |
2437 |
c
|
SPS240 |
Spastic Paraplegia 83, Autosomal Recessive |
30 |
2438 |
c
|
INT549 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
30 |
2439 |
c
|
INT537 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
30 |
2440 |
c
|
PRT063 |
Proteus-Like Syndrome |
30 |
2441 |
c
|
DVL063 |
Developmental and Epileptic Encephalopathy 37 |
30 |
2442 |
|
SNC001 |
Sunct Headache |
30 |
2443 |
c
|
DVL107 |
Developmental and Epileptic Encephalopathy 84 |
30 |
2444 |
c
|
PRK081 |
Parkinson Disease 19a, Juvenile-Onset |
30 |
2445 |
|
OPT058 |
Optic Disc Anomalies with Retinal and/or Macular Dystrophy |
30 |
2446 |
c
|
SPS244 |
Spastic Paraplegia 86, Autosomal Recessive |
30 |
2447 |
|
PHC006 |
Phacomatosis Pigmentovascularis |
30 |
2448 |
c
|
SHR032 |
Short Qt Syndrome 2 |
30 |
2449 |
P
|
HRD022 |
Hordeolum |
30 |
2450 |
c
|
PNT046 |
Pontocerebellar Hypoplasia, Type 5 |
30 |
2451 |
c
|
INT472 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
29 |
2452 |
c
|
SHR033 |
Short Qt Syndrome 3 |
29 |
2453 |
|
PTT063 |
Pattern Dystrophy |
29 |
2454 |
|
HRL006 |
Harel-Yoon Syndrome |
29 |
2455 |
c
|
PNT056 |
Pontocerebellar Hypoplasia, Type 15 |
29 |
2456 |
c
|
INT546 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
29 |
2457 |
c
|
ATS526 |
Autosomal Dominant Intellectual Developmental Disorder 19 |
29 |
2458 |
c
|
HRD186 |
Hereditary Spastic Paraplegia 51 |
29 |
2459 |
c
|
MTC076 |
Metachromatic Leukodystrophy, Juvenile Form |
29 |
2460 |
c
|
SPS115 |
Spastic Paraplegia 41, Autosomal Dominant |
29 |
2461 |
c
|
INT556 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
29 |
2462 |
c
|
SPS242 |
Spastic Paraplegia 84, Autosomal Recessive |
29 |
2463 |
c
|
SPS138 |
Spastic Paraplegia 72, Autosomal Recessive |
29 |
2464 |
c
|
INT521 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
29 |
2465 |
c
|
SPS113 |
Spastic Paraplegia 33, Autosomal Dominant |
29 |
2466 |
|
CHS002 |
Chiasmal Syndrome |
29 |
2467 |
c
|
PRG128 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 |
29 |
2468 |
c
|
FML306 |
Familial or Sporadic Hemiplegic Migraine |
29 |
2469 |
c
|
INT505 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
29 |
2470 |
c
|
HRD188 |
Hereditary Spastic Paraplegia 72 |
29 |
2471 |
c
|
DYS144 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
29 |
2472 |
|
IGG009 |
Igg4-Related Ophthalmic Disease |
29 |
2473 |
c
|
SPS091 |
Spastic Paraplegia 4 |
29 |
2474 |
|
CNJ005 |
Conjunctival Vascular Disease |
29 |
2475 |
|
DMD001 |
Demodicidosis |
29 |
2476 |
c
|
ATS314 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
29 |
2477 |
|
ACT120 |
Acute Zonal Occult Outer Retinopathy |
28 |
2478 |
|
CRN128 |
Corneal Dystrophy, Endothelial, X-Linked |
28 |
2479 |
|
CHR707 |
Chromosome 13q33-Q34 Deletion Syndrome |
28 |
2480 |
c
|
DVL080 |
Developmental and Epileptic Encephalopathy 56 |
28 |
2481 |
c
|
DVL058 |
Developmental and Epileptic Encephalopathy 32 |
28 |
2482 |
c
|
JVN015 |
Juvenile Huntington Disease |
28 |
2483 |
|
GNT004 |
Gnathomiasis |
28 |
2484 |
c
|
SPS013 |
Spastic Paraplegia 8 |
28 |
2485 |
|
MRN002 |
Mooren's Ulcer |
28 |
2486 |
|
SPS209 |
Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy |
28 |
2487 |
c
|
CRN120 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
28 |
2488 |
|
ACT038 |
Acute Retrobulbar Neuritis |
28 |
2489 |
c
|
MCK035 |
Meckel Syndrome, Type 10 |
28 |
2490 |
c
|
SNR007 |
Senior-Loken Syndrome 7 |
28 |
2491 |
c
|
DVL071 |
Developmental and Epileptic Encephalopathy 46 |
28 |
2492 |
c
|
INT560 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
28 |
2493 |
c
|
USH045 |
Usher Syndrome, Type Iv |
28 |
2494 |
c
|
NPH065 |
Nephronophthisis 13 |
28 |
2495 |
c
|
PNT047 |
Pontocerebellar Hypoplasia, Type 2b |
28 |
2496 |
c
|
INT460 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
28 |
2497 |
c
|
INT554 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
28 |
2498 |
|
HYP643 |
Hypohidrotic Ectodermal Dysplasia with Immunodeficiency |
28 |
2499 |
P
|
NNT006 |
Neonatal Myasthenia Gravis |
28 |
2500 |
c
|
ATS527 |
Autosomal Dominant Intellectual Developmental Disorder 31 |
28 |
2501 |
c
|
DVL112 |
Developmental and Epileptic Encephalopathy 89 |
28 |
2502 |
c
|
INT566 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
27 |
2503 |
|
BLP001 |
Blepharochalasis |
27 |
2504 |
|
FNG016 |
Fungal Keratitis |
27 |
2505 |
c
|
MCK020 |
Meckel Syndrome, Type 11 |
27 |
2506 |
c
|
PRK083 |
Parkinson Disease 22, Autosomal Dominant |
27 |
2507 |
c
|
SHR031 |
Short Qt Syndrome 1 |
27 |
2508 |
c
|
TLN008 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
27 |
2509 |
c
|
INT475 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
27 |
2510 |
P
|
PST016 |
Posterior Polar Cataract |
27 |
2511 |
|
SPN033 |
Spontaneous Ocular Nystagmus |
27 |
2512 |
c
|
INT562 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
27 |
2513 |
|
INT337 |
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies |
27 |
2514 |
c
|
INT563 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
27 |
2515 |
c
|
DVL066 |
Developmental and Epileptic Encephalopathy 41 |
27 |
2516 |
c
|
SPS118 |
Spastic Paraplegia 36, Autosomal Dominant |
27 |
2517 |
c
|
DVL094 |
Developmental and Epileptic Encephalopathy 70 |
27 |
2518 |
c
|
DVL093 |
Developmental and Epileptic Encephalopathy 69 |
27 |
2519 |
c
|
DVL120 |
Developmental and Epileptic Encephalopathy 95 |
27 |
2520 |
c
|
DVL086 |
Developmental and Epileptic Encephalopathy 62 |
27 |
2521 |
c
|
DVL088 |
Developmental and Epileptic Encephalopathy 64 |
27 |
2522 |
c
|
KHL004 |
Kohlschutter-Tonz Syndrome-Like |
27 |
2523 |
c
|
DVL074 |
Developmental and Epileptic Encephalopathy 49 |
27 |
2524 |
c
|
INT517 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
27 |
2525 |
c
|
MCK028 |
Meckel Syndrome 13 |
27 |
2526 |
|
LKN017 |
Leukoencephalopathy with Ataxia |
27 |
2527 |
|
PLM137 |
Palmoplantar Keratoderma and Woolly Hair |
27 |
2528 |
c
|
PRK098 |
Parkinson Disease 5, Autosomal Dominant |
27 |
2529 |
c
|
SPS111 |
Spastic Paraplegia 27, Autosomal Recessive |
27 |
2530 |
c
|
DVL047 |
Developmental and Epileptic Encephalopathy 19 |
27 |
2531 |
c
|
INT535 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
27 |
2532 |
c
|
DVL092 |
Developmental and Epileptic Encephalopathy 68 |
26 |
2533 |
c
|
SNR004 |
Senior-Loken Syndrome 4 |
26 |
2534 |
|
ACC002 |
Accommodative Spasm |
26 |
2535 |
c
|
DVL091 |
Developmental and Epileptic Encephalopathy 67 |
26 |
2536 |
c
|
MCK026 |
Meckel Syndrome 12 |
26 |
2537 |
c
|
DVL083 |
Developmental and Epileptic Encephalopathy 59 |
26 |
2538 |
c
|
PNT055 |
Pontocerebellar Hypoplasia, Type 14 |
26 |
2539 |
c
|
DVL075 |
Developmental and Epileptic Encephalopathy 51 |
26 |
2540 |
c
|
DVL104 |
Developmental and Epileptic Encephalopathy 81 |
26 |
2541 |
c
|
MCR219 |
Microphthalmia, Isolated 8 |
26 |
2542 |
|
TKL001 |
Tukel Syndrome |
26 |
2543 |
c
|
ATS523 |
Autosomal Recessive Intellectual Developmental Disorder |
26 |
2544 |
c
|
FRM005 |
Frmd7-Related Infantile Nystagmus |
26 |
2545 |
c
|
PRG041 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 |
26 |
2546 |
c
|
DVL115 |
Developmental and Epileptic Encephalopathy 92 |
26 |
2547 |
c
|
INT393 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
26 |
2548 |
c
|
INT545 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
26 |
2549 |
c
|
INT558 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
26 |
2550 |
c
|
DVL127 |
Developmental and Epileptic Encephalopathy 98 |
26 |
2551 |
c
|
INT515 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
26 |
2552 |
c
|
DVL128 |
Developmental and Epileptic Encephalopathy 99 |
26 |
2553 |
c
|
INT561 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
26 |
2554 |
|
NRD096 |
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures |
26 |
2555 |
c
|
DVL070 |
Developmental and Epileptic Encephalopathy 45 |
26 |
2556 |
c
|
PRK099 |
Parkinson Disease 18, Autosomal Dominant |
26 |
2557 |
c
|
EPD124 |
Epidermolysis Bullosa, Junctional 5a, Intermediate |
26 |
2558 |
c
|
MCR382 |
Microcephaly 26, Primary, Autosomal Dominant |
25 |
2559 |
c
|
DVL081 |
Developmental and Epileptic Encephalopathy 57 |
25 |
2560 |
|
EXT029 |
Extraocular Retinoblastoma |
25 |
2561 |
c
|
SPN432 |
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 |
25 |
2562 |
c
|
CRN280 |
Cornea Plana 2, Autosomal Recessive |
25 |
2563 |
|
NNS133 |
Non-Syndromic Metopic Craniosynostosis |
25 |
2564 |
c
|
INT544 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
25 |
2565 |
c
|
DVL102 |
Developmental and Epileptic Encephalopathy 79 |
25 |
2566 |
c
|
DVL032 |
Developmental and Epileptic Encephalopathy 90 |
25 |
2567 |
|
MCD002 |
Mcdonough Syndrome |
25 |
2568 |
c
|
DVL131 |
Developmental and Epileptic Encephalopathy 100 |
25 |
2569 |
c
|
SNR006 |
Senior-Loken Syndrome 6 |
25 |
2570 |
c
|
DVL105 |
|