Aliases & Classifications for Retinitis

MalaCards integrated aliases for Retinitis:

Name: Retinitis 12 54 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:3612
MeSH 43 D012173
NCIt 49 C115993
SNOMED-CT 67 35426003
ICD10 32 H30.9
UMLS 71 C0035333

Summaries for Retinitis

MalaCards based summary : Retinitis is related to bothnia retinal dystrophy and retinitis pigmentosa 50. An important gene associated with Retinitis is RPGR (Retinitis Pigmentosa GTPase Regulator), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. The drugs Sodium citrate and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone, and related phenotypes are Decreased HPV16-GFP infection and nervous system

Related Diseases for Retinitis

Diseases related to Retinitis via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2791, show less)
# Related Disease Score Top Affiliating Genes
1 bothnia retinal dystrophy 34.5 RLBP1 PRPH2
2 retinitis pigmentosa 50 34.5 RPGR PRPH2 EYS
3 late-onset retinal degeneration 34.4 RPGR RHO EYS
4 retinitis pigmentosa 35 34.2 SEMA4A RPGR
5 retinitis pigmentosa 25 34.2 RPGR PRPH2 PDE6A EYS
6 hereditary retinal dystrophy 34.1 RPE65 RHO EYS
7 retinitis pigmentosa 26 34.0 RPGR CERKL
8 retinal perforation 34.0 RPE65 RLBP1
9 retinitis pigmentosa 29 33.9 PDE6A FAM161A CERKL
10 retinitis pigmentosa 6 33.8 RPGR RP9
11 retinitis pigmentosa 4 33.7 RPGR RP9 RHO
12 retinitis pigmentosa 20 33.7 RPGR RPE65 RP9
13 retinitis pigmentosa 19 33.6 RPGR RP9
14 retinitis pigmentosa 34 33.6 RPGR RP9
15 retinitis pigmentosa 14 33.6 RPGR RP9 CERKL
16 retinitis pigmentosa 54 33.6 RP9 FAM161A
17 retinitis pigmentosa 7 33.5 RPGR RP9 PRPH2 PDE6A
18 retinitis pigmentosa 17 33.5 RPGR RP9
19 usher syndrome, type i 33.5 RPGR RPE65 RHO IMPDH1
20 retinitis pigmentosa 10 33.4 RPGR RP9 IMPDH1
21 retinal ciliopathy 33.3 RPGRIP1 RPGR RP1
22 retinitis pigmentosa 3 33.3 RPGRIP1 RPGR RP9 RP2
23 retinoschisis 1, x-linked, juvenile 33.3 RPGR RPE65 RHO
24 enhanced s-cone syndrome 33.2 RPGR RPE65 RHO
25 usher syndrome 33.1 RPGR RPE65 RHO PRPH2 PDE6A EYS
26 retinitis pigmentosa 1 33.1 RP1 RHO PRPH2 PRPF3 PDE6A IMPDH1
27 peripheral retinal degeneration 33.1 RPGR RLBP1 RHO PRPH2 IMPDH1 CERKL
28 senior-loken syndrome 1 33.1 RPGRIP1 RPGR RPE65 IMPDH1
29 bestrophinopathy, autosomal recessive 33.0 RPE65 RLBP1 PRPH2
30 leber congenital amaurosis 3 33.0 RPGRIP1 RPE65 IMPDH1
31 retinitis pigmentosa 33 33.0 SNRNP200 RP9 PRPF3
32 fundus albipunctatus 33.0 RPGR RPE65 RLBP1 RHO PRPH2 CERKL
33 macular degeneration, age-related, 1 33.0 RPGR RPE65 RLBP1 RHO PRPH2 FLVCR1
34 retinitis pigmentosa 9 32.9 RP9 PRPF3 IMPDH1
35 retinitis pigmentosa 13 32.9 SNRNP200 RPGR RP9 PRPF3
36 pattern dystrophy 32.9 RP2 RHO PRPH2
37 leber congenital amaurosis 4 32.8 RPGRIP1 RPE65 PRPH2 PDE6A IMPDH1
38 cone-rod dystrophy 6 32.8 RPGRIP1 RPGR RPE65 PRPH2 PDE6A CERKL
39 vitelliform macular dystrophy 32.8 RPGR RPE65 PRPH2
40 retinitis pigmentosa 63 32.8 SNRNP200 PRPF3 KLHL7 IMPDH1
41 cone dystrophy 32.7 RPGR RPE65 RLBP1 RHO PRPH2 EYS
42 newfoundland rod-cone dystrophy 32.7 RLBP1 RHO PRPH2
43 solar retinopathy 32.7 RLBP1 RHO
44 inherited retinal disorder 32.7 RPGR RPE65 RP2 RP1 PRPH2 FAM161A
45 leber congenital amaurosis 1 32.6 RPGRIP1 RPE65 RP1 RHO PRPH2 IMPDH1
46 retinitis pigmentosa 31 32.5 TOPORS RP9 PRPF3 IMPDH1
47 cone-rod dystrophy 1 32.5 RPGRIP1 RPGR
48 preretinal fibrosis 32.5 RLBP1 FLVCR1
49 eye disease 32.4 RPGR RPE65 RLBP1 RHO PRPH2
50 yemenite deaf-blind hypopigmentation syndrome 32.4 RPGR RPE65 RHO
51 cone-rod dystrophy 13 32.3 RPGRIP1 RPGR
52 laurence-moon syndrome 32.3 RPGRIP1 RPGR
53 choroidal dystrophy, central areolar, 1 32.3 TOPORS RPE65 RLBP1 PRPH2 CERKL
54 macular degeneration, age-related, 2 32.3 RPE65 RHO
55 leber congenital amaurosis 6 32.2 RPGRIP1 IMPDH1
56 leber congenital amaurosis 2 32.2 RPGRIP1 RPE65 RHO IMPDH1
57 cone-rod dystrophy 2 32.2 SEMA4A RPGRIP1 RPGR RPE65 RHO PRPH2
58 optic disk drusen 32.2 RPGRIP1 RHO
59 usher syndrome type 2 32.2 RPGR RPE65 RHO PDE6A EYS CERKL
60 leber congenital amaurosis 10 32.0 RPGRIP1 RPGR RPE65 IMPDH1
61 pseudoretinitis pigmentosa 31.8 PRPF3 IMPDH1 CERKL
62 night blindness, congenital stationary, autosomal dominant 1 31.7 SEMA4A RHO
63 achromatopsia 31.6 RPGRIP1 RPGR RPE65 RHO PRPH2 PDE6A
64 joubert syndrome 22 31.6 PRPH2 IMPDH1
65 joubert syndrome 1 31.6 RPGRIP1 RPGR RPE65 RP2 RHO IMPDH1
66 stargardt disease 31.3 SNRNP200 RPGR RPE65 RLBP1 RHO PRPH2
67 leber congenital amaurosis 12 31.3 RPE65 IMPDH1
68 pathologic nystagmus 31.2 RPE65 RHO IMPDH1
69 stargardt macular degeneration 31.2 RHO PRPH2
70 night blindness 31.2 RPGR RPE65 RLBP1 RHO PRPH2 CERKL
71 leber congenital amaurosis 9 31.1 RPE65 IMPDH1
72 scotoma 31.1 RPGR RPE65 RHO PRPH2 EYS CERKL
73 leber congenital amaurosis 5 31.0 RPGRIP1 IMPDH1
74 color blindness 30.6 RPGR RPE65 RHO PDE6A
75 retinal degeneration 30.6 TOPORS SEMA4A RPGRIP1 RPGR RPE65 RP2
76 congenital stationary night blindness 30.6 RPGRIP1 RPGR RPE65 RLBP1 RHO PRPH2
77 bardet-biedl syndrome 30.5 RPGRIP1 RPGR RPE65 RHO PRPH2 PRPF3
78 degeneration of macula and posterior pole 30.5 RPE65 RLBP1 RHO PRPH2
79 usher syndrome, type iiia 30.2 TOPORS RPE65 RP9 RLBP1 PRPF3 PDE6A
80 retinal disease 30.2 SEMA4A RPGRIP1 RPGR RPE65 RP9 RP2
81 leber congenital amaurosis 30.2 RPGRIP1 RPGR RPE65 RP9 RP2 RP1
82 choroid disease 29.9 RPGR RPE65 RHO PRPH2
83 red-green color blindness 29.9 RPGR RPE65
84 digenic disease 29.9 PRPH2 PDE6A
85 vitreous disease 29.8 RPE65 RLBP1 RHO
86 gyrate atrophy of choroid and retina 29.7 RPGR RPE65 RP9 RHO PRPH2 CERKL
87 nephronophthisis 4 29.5 RPGRIP1 PDE6A
88 retinitis pigmentosa 28.4 TOPORS SNRNP200 SEMA4A RPGRIP1 RPGR RPE65
89 fundus dystrophy 27.7 TOPORS SNRNP200 SEMA4A RPGRIP1 RPGR RPE65
90 retinal detachment 12.7
91 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 12.6
92 retinitis pigmentosa 12 12.6
93 doyne honeycomb retinal dystrophy 12.6
94 retinitis pigmentosa 27 12.6
95 retinitis pigmentosa 2 12.5
96 retinitis pigmentosa 11 12.5
97 retinitis pigmentosa 41 12.5
98 retinitis pigmentosa 67 12.5
99 central retinal vein occlusion 12.5
100 vasculopathy, retinal, with cerebral leukodystrophy 12.5
101 retinitis pigmentosa 38 12.5
102 retinitis pigmentosa 46 12.5
103 retinitis pigmentosa 57 12.5
104 retinitis pigmentosa 28 12.5
105 retinitis pigmentosa 18 12.5
106 retinitis pigmentosa 30 12.5
107 retinitis pigmentosa 36 12.5
108 retinitis pigmentosa 40 12.5
109 retinitis pigmentosa 69 12.5
110 retinitis pigmentosa 43 12.5
111 retinitis pigmentosa 23 12.5
112 retinitis pigmentosa 37 12.5
113 retinitis pigmentosa 42 12.5
114 retinitis pigmentosa 45 12.5
115 retinitis pigmentosa 39 12.5
116 retinitis pigmentosa 55 12.5
117 retinitis pigmentosa 58 12.5
118 neuropathy, ataxia, and retinitis pigmentosa 12.5
119 retinitis pigmentosa 51 12.5
120 retinitis pigmentosa 48 12.5
121 retinitis pigmentosa 62 12.5
122 retinitis pigmentosa 49 12.5
123 retinitis pigmentosa 47 12.5
124 retinitis pigmentosa 44 12.5
125 retinitis pigmentosa 60 12.5
126 retinitis pigmentosa 61 12.5
127 retinal arteries, tortuosity of 12.5
128 retinitis pigmentosa 66 12.5
129 retinitis pigmentosa 70 12.5
130 retinitis pigmentosa 59 12.5
131 retinitis pigmentosa 82 with or without situs inversus 12.5
132 retinitis pigmentosa 68 12.5
133 central retinal artery occlusion 12.5
134 retinal vascular occlusion 12.5
135 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.5
136 retinitis pigmentosa 71 12.5
137 retinitis pigmentosa 72 12.5
138 retinitis pigmentosa 73 12.5
139 retinitis pigmentosa 75 12.5
140 retinitis pigmentosa 56 12.5
141 infantile cerebellar-retinal degeneration 12.5
142 posterior column ataxia with retinitis pigmentosa 12.5
143 cytomegalovirus retinitis 12.5
144 retinitis pigmentosa 74 12.5
145 retinitis pigmentosa 77 12.5
146 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 12.5
147 retinal cone dystrophy 3b 12.5
148 retinal ischemia 12.4
149 retinal vasculitis 12.4
150 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 12.4
151 macular retinal edema 12.4
152 retinal dystrophy, juvenile cataracts, and short stature syndrome 12.4
153 retinitis pigmentosa 24 12.4
154 retinitis pigmentosa 32 12.4
155 retinitis pigmentosa 22 12.4
156 retinitis pigmentosa with or without skeletal anomalies 12.4
157 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.4
158 retinitis pigmentosa, late-adult onset 12.4
159 retinitis pigmentosa 83 12.4
160 retinal dystrophy with or without extraocular anomalies 12.4
161 retinitis pigmentosa-deafness syndrome 12.4
162 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 12.4
163 retinitis pigmentosa 84 12.4
164 retinitis pigmentosa, y-linked 12.4
165 retinitis pigmentosa 81 12.4
166 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.4
167 acute retinal necrosis syndrome 12.4
168 retinitis pigmentosa 78 12.3
169 retinitis pigmentosa 76 12.3
170 retinitis pigmentosa 79 12.3
171 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 12.3
172 retinitis pigmentosa 85 12.3
173 retinitis pigmentosa 80 12.3
174 retinal cone dystrophy 3a 12.3
175 retinal cone dystrophy 4 12.3
176 retinal vein occlusion 12.3
177 macular dystrophy, retinal, 2 12.3
178 reticular dystrophy of retinal pigment epithelium 12.3
179 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 12.3
180 retinal dystrophy with or without macular staphyloma 12.3
181 optic disc anomalies with retinal and/or macular dystrophy 12.3
182 intellectual developmental disorder and retinitis pigmentosa 12.3
183 retinal dystrophy and obesity 12.3
184 retinitis pigmentosa 86 12.3
185 retinitis pigmentosa and erythrocytic microcytosis 12.3
186 macular dystrophy, retinal, 1, north carolina type 12.3
187 retinal vascular disease 12.3
188 branch retinal artery occlusion 12.3
189 retinitis pigmentosa 87 with choroidal involvement 12.2
190 retinal dystrophy, reticular pigmentary, of posterior pole 12.2
191 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 12.2
192 retinal artery occlusion 12.2
193 severe early-childhood-onset retinal dystrophy 12.2
194 retinal cancer 12.2
195 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 12.2
196 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation 12.2
197 retinal cone dystrophy 1 12.1
198 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 12.1
199 vitreoretinopathy, neovascular inflammatory 12.1
200 transient retinal arterial occlusion 12.1
201 retinal drusen 12.1
202 retinal dystrophy and iris coloboma with or without congenital cataract 12.1
203 partial arterial retinal occlusion 12.1
204 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 12.1
205 microvascular complications of diabetes 5 12.1
206 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 12.1
207 leber congenital amaurosis 14 12.1
208 retinal microaneurysm 12.1
209 retinal telangiectasia 12.1
210 macular dystrophy, patterned, 3 12.1
211 abnormal retinal correspondence 12.1
212 retinal hemangioblastoma 12.1
213 retinal lattice degeneration 12.1
214 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 12.1
215 reese retinal dysplasia 12.1
216 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration 12.1
217 spastic quadriplegia, retinitis pigmentosa, and mental retardation 12.1
218 macular dystrophy, retinal, 3 12.1
219 histoplasmosis retinitis 12.1
220 coats disease 12.1
221 cone-rod dystrophy 16 12.0
222 short-rib thoracic dysplasia 9 with or without polydactyly 12.0
223 eales disease 12.0
224 syndromic inherited retinal disorder 12.0
225 retinal dysplasia, primary 12.0
226 congenital retinal arteriovenous communication 12.0
227 retinal aplasia 12.0
228 deafness, cataract, retinitis pigmentosa, and sperm abnormalities 12.0
229 nonsyndromic retinitis pigmentosa 12.0
230 combined hamartoma of the retina and retinal pigment epithelium 12.0
231 macular dystrophy, patterned, 1 12.0
232 leber congenital amaurosis / early-onset severe retinal dystrophy 12.0
233 leber congenital amaurosis 13 12.0
234 rpe65-related leber congenital amaurosis / early-onset severe retinal dystrophy 12.0
235 stickler syndrome, type i, nonsyndromic ocular 12.0
236 retinal venous beading 12.0
237 rare retinal disorder 12.0
238 lattice degeneration of retina leading to retinal detachment 12.0
239 retinal telangiectasia and hypogammaglobulinemia 12.0
240 retinitis pigmentosa inversa with deafness 12.0
241 microcephaly, retinitis pigmentosa, and sutural cataract 12.0
242 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth 12.0
243 skeletal dysplasia, rhizomelic, with retinitis pigmentosa 12.0
244 rare retinal vasculopathy 12.0
245 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 12.0
246 partial of retinal vein occlusion 12.0
247 persistent hyperplastic primary vitreous, autosomal recessive 12.0
248 usher syndrome, type iia 11.9
249 orofaciodigital syndrome ix 11.9
250 cobblestone retinal degeneration 11.9
251 retinal melanoma 11.9
252 obsolete: retinitis pigmentosa and intellectual disability due to monosomy xp11.3 11.9
253 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 11.9
254 retinoblastoma 11.9
255 rhyns syndrome 11.9
256 microphthalmia, isolated 5 11.9
257 irvan syndrome 11.9
258 exudative vitreoretinopathy 1 11.9
259 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 11.9
260 senile reticular retinal degeneration 11.9
261 hole retinal cyst 11.9
262 retinal dystrophies primarily involving bruch's membrane 11.9
263 cystoid macular retinal degeneration 11.9
264 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 11.9
265 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 11.9
266 neuroretinitis 11.9
267 knobloch syndrome 11.9
268 cone-rod dystrophy 15 11.9
269 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.9
270 microphthalmia, syndromic 5 11.9
271 aortic arch interruption, facial palsy, and retinal coloboma 11.8
272 diverticulosis of bowel, hernia, and retinal detachment 11.8
273 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies 11.8
274 pallidal degeneration, progressive, with retinitis pigmentosa 11.8
275 retinal degeneration and epilepsy 11.8
276 dystrophies primarily involving the retinal pigment epithelium 11.8
277 retinal dystrophy in systemic or cerebroretinal lipidoses 11.8
278 dwarfism deafness retinitis pigmentosa 11.8
279 retinal dysplasia x-linked 11.8
280 genetic central nervous system and retinal vascular disease 11.8
281 retinal ciliopathy due to mutation in nephronophthisis gene 11.8
282 retinal ciliopathy due to mutation in bardet-biedl gene 11.8
283 retinal ciliopathy due to mutation in the rpgr gene 11.8
284 retinal ciliopathy due to mutation in the rpgrip gene 11.8
285 retinal ciliopathy due to mutation in usher gene 11.8
286 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 11.8
287 microcephaly-cleft palate-abnormal retinal pigmentation syndrome 11.8
288 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 11.8
289 obsolete: congenital blindness due to retinal non-attachment 11.8
290 x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 11.8
291 rare central nervous system and retinal vascular disease 11.8
292 retinal capillary malformation 11.8
293 isolated progressive inherited retinal disorder 11.8
294 isolated stationary inherited retinal disorder 11.8
295 rare genetic retinal vasculopathy 11.8
296 rare genetic retinal disorder 11.8
297 isolated inherited retinal disorder 11.8
298 obsolete: unclassified familial retinal dystrophy 11.8
299 obsolete: genetic vitreous-retinal disease 11.8
300 obsolete: metabolic disease with pigmentary retinitis 11.8
301 retinopathy, pericentral pigmentary, autosomal recessive 11.8
302 spastic paraplegia 15, autosomal recessive 11.8
303 stargardt disease 1 11.8
304 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 11.8
305 vitreoretinochoroidopathy 11.8
306 knobloch syndrome 1 11.8
307 exudative vitreoretinopathy 11.8
308 macular dystrophy, dominant cystoid 11.8
309 cone-rod dystrophy 21 11.8
310 spinocerebellar ataxia 7 11.8
311 walker-warburg syndrome 11.7
312 roifman syndrome 11.7
313 spastic paraplegia 15 11.7
314 cone dystrophy 3 11.7
315 chromosome xp11.3 deletion syndrome 11.7
316 cone-rod dystrophy 7 11.7
317 cone-rod dystrophy 9 11.7
318 retinochoroidal coloboma 11.7
319 persistent hyperplastic primary vitreous 11.7
320 muscular dystrophy-dystroglycanopathy , type a, 1 11.7
321 pars planitis 11.7
322 oculoauricular syndrome 11.7
323 patterned macular dystrophy 11.6
324 oliver-mcfarlane syndrome 11.6
325 leber congenital amaurosis 15 11.6
326 aldred syndrome 11.6
327 usher syndrome, type id 11.6
328 retinopathy, pigmentary, and mental retardation 11.6
329 usher syndrome, type ic 11.6
330 brain small vessel disease 1 with or without ocular anomalies 11.6
331 pigmented paravenous chorioretinal atrophy 11.6
332 cerebroretinal microangiopathy with calcifications and cysts 1 11.6
333 familial drusen 11.6
334 macular dystrophy, vitelliform, 2 11.6
335 exudative vitreoretinopathy 2, x-linked 11.5
336 basal laminar drusen 11.5
337 usher syndrome, type iic 11.5
338 von hippel-lindau syndrome 11.5
339 bietti crystalline corneoretinal dystrophy 11.5
340 refsum disease, classic 11.5
341 spastic ataxia, charlevoix-saguenay type 11.5
342 macular telangiectasia type 2 11.5
343 choroideremia 11.5
344 sorsby fundus dystrophy 11.5
345 ramos arroyo clark syndrome 11.5
346 trnt1 deficiency 11.5
347 leber congenital amaurosis 8 11.5
348 leber congenital amaurosis 7 11.5
349 leber congenital amaurosis 11 11.5
350 wagner vitreoretinopathy 11.5
351 spondylometaphyseal dysplasia, axial 11.5
352 retinopathy, pericentral pigmentary, dominant 11.5
353 aland island eye disease 11.5
354 usher syndrome, type if 11.5
355 usher syndrome, type iid 11.5
356 papillorenal syndrome 11.5
357 exudative vitreoretinopathy 3 11.5
358 myopia 11.5
359 abetalipoproteinemia 11.4
360 stickler syndrome 11.4
361 cone-rod dystrophy, x-linked, 1 11.4
362 exudative vitreoretinopathy 5 11.4
363 idiopathic macular telangiectasia type 1 11.4
364 microphthalmia 11.4
365 idiopathic macular telangiectasia type 3 11.4
366 flynn-aird syndrome 11.4
367 vitreoretinal degeneration, snowflake type 11.4
368 usher syndrome, type ig 11.4
369 autoimmune retinopathy 11.4
370 oguchi disease 11.4
371 col4a1-related familial vascular leukoencephalopathy 11.4
372 norrie disease 11.4
373 night blindness, congenital stationary, type 1e 11.4
374 3-methylglutaconic aciduria, type iii 11.4
375 optic nerve disease 11.4
376 night blindness, congenital stationary, type1i 11.4
377 neurodegeneration with brain iron accumulation 11.4
378 cone-rod dystrophy, x-linked, 3 11.4
379 macular dystrophy, vitelliform, 5 11.4
380 macular dystrophy, vitelliform, 3 11.4
381 occult macular dystrophy 11.4
382 coloboma of macula 11.4
383 kuhnt-junius degeneration 11.4
384 jalili syndrome 11.4
385 usher syndrome, type iiib 11.4
386 usher syndrome, type ij 11.4
387 joubert syndrome 3 11.3
388 cockayne syndrome 11.3
389 cranioectodermal dysplasia 1 11.3
390 glaucoma, primary open angle 11.3
391 neurodegeneration with brain iron accumulation 1 11.3
392 cone-rod dystrophy 3 11.3
393 kniest dysplasia 11.3
394 cone-rod dystrophy 5 11.3
395 cone-rod dystrophy 10 11.3
396 choroidal dystrophy, central areolar 2 11.3
397 arima syndrome 11.3
398 cone-rod dystrophy 11 11.3
399 cone-rod dystrophy 12 11.3
400 cone-rod dystrophy 18 11.3
401 cone-rod dystrophy 19 11.3
402 cone-rod dystrophy 20 11.3
403 vascular hyalinosis 11.3
404 blessig's cysts 11.3
405 peroxisome biogenesis disorder 1b 11.3
406 macular dystrophy, patterned, 2 11.3
407 ceroid lipofuscinosis, neuronal, 11 11.3
408 exudative vitreoretinopathy 6 11.3
409 exudative vitreoretinopathy 7 11.3
410 cone-rod dystrophy and hearing loss 2 11.3
411 nephronophthisis 11.3
412 optic atrophy 1 11.3
413 fleck retina, familial benign 11.3
414 best vitelliform macular dystrophy 11.3
415 bardet-biedl syndrome 1 11.3
416 isolated ectopia lentis 11.3
417 wagner syndrome 11.2
418 bardet-biedl syndrome 2 11.2
419 spondyloepimetaphyseal dysplasia, strudwick type 11.2
420 exudative vitreoretinopathy 4 11.2
421 alstrom syndrome 11.2
422 bardet-biedl syndrome 3 11.2
423 ataxia with vitamin e deficiency 11.2
424 stickler syndrome, type i 11.2
425 spondyloepiphyseal dysplasia congenita 11.2
426 spondyloocular syndrome 11.2
427 poretti-boltshauser syndrome 11.2
428 bardet-biedl syndrome 4 11.2
429 susac syndrome 11.2
430 syndromic rod-cone dystrophy 11.2
431 sveinsson chorioretinal atrophy 11.2
432 stargardt disease 4 11.2
433 cranioectodermal dysplasia 4 11.2
434 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.2
435 perching syndrome 11.2
436 hypertensive retinopathy 11.2
437 retina lymphoma 11.2
438 vasoproliferative tumor of the retina 11.2
439 shaken baby syndrome 11.2
440 aceruloplasminemia 11.2
441 grouped pigmentation of the retina 11.2
442 melanoma, uveal 11.2
443 microcephaly 11.2
444 frenkel russe syndrome 11.2
445 ghose sachdev kumar syndrome 11.2
446 intraocular lymphoma 11.2
447 degenerative myopia 11.2
448 leber optic atrophy 11.2
449 macular dystrophy, concentric annular 11.1
450 usher syndrome, type ih 11.1
451 usher syndrome, type ik 11.1
452 acute posterior multifocal placoid pigment epitheliopathy 11.1
453 vitreoretinal degeneration 11.1
454 pseudoxanthoma elasticum 11.1
455 acute zonal occult outer retinopathy 11.1
456 night blindness, congenital stationary, autosomal dominant 2 11.1
457 oguchi disease 1 11.1
458 stargardt disease 3 11.1
459 cohen syndrome 11.1
460 nephronophthisis 1 11.1
461 night blindness, congenital stationary, type 2a 11.1
462 blue cone monochromacy 11.1
463 diabetes and deafness, maternally inherited 11.1
464 sjogren-larsson syndrome 11.1
465 prolonged electroretinal response suppression 11.1
466 mevalonic aciduria 11.1
467 pseudopapilledema 11.1
468 ceroid lipofuscinosis, neuronal, 1 11.1
469 osteoporosis-pseudoglioma syndrome 11.1
470 chorioretinal atrophy, progressive bifocal 11.1
471 bardet-biedl syndrome 6 11.1
472 spinocerebellar ataxia 2 11.1
473 donnai-barrow syndrome 11.1
474 mucolipidosis iv 11.1
475 aicardi syndrome 11.1
476 neuropathy, hereditary, with or without age-related macular degeneration 11.1
477 joubert syndrome 4 11.1
478 bardet-biedl syndrome 5 11.1
479 bardet-biedl syndrome 8 11.1
480 bardet-biedl syndrome 12 11.1
481 asphyxiating thoracic dystrophy 11.1
482 ocular melanoma 11.1
483 nerve fibre bundle defect 11.1
484 optic atrophy 3, autosomal dominant 11.1
485 thiamine-responsive megaloblastic anemia syndrome 11.1
486 ceroid lipofuscinosis, neuronal, 6 11.1
487 senior-loken syndrome 4 11.1
488 cone-rod synaptic disorder, congenital nonprogressive 11.1
489 neurodevelopmental disorder with spastic diplegia and visual defects 11.1
490 hypobetalipoproteinemia, familial, 1 11.1
491 bardet-biedl syndrome 7 11.1
492 bardet-biedl syndrome 10 11.1
493 bardet-biedl syndrome 21 11.1
494 zellweger syndrome 11.1
495 adams-oliver syndrome 1 11.1
496 spinocerebellar ataxia 1 11.1
497 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.1
498 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 11.1
499 epiphyseal dysplasia, microcephaly, and nystagmus 11.1
500 gapo syndrome 11.1
501 muscular dystrophy-dystroglycanopathy , type a, 3 11.1
502 gurrieri syndrome 11.1
503 hypotrichosis, congenital, with juvenile macular dystrophy 11.1
504 joubert syndrome 6 11.1
505 macular degeneration, age-related, 4 11.1
506 joubert syndrome 9 11.1
507 joubert syndrome 8 11.1
508 cone dystrophy 4 11.1
509 senior-loken syndrome 7 11.1
510 macular degeneration, age-related, 14 11.1
511 macular degeneration, age-related, 15 11.1
512 bardet-biedl syndrome 16 11.1
513 bardet-biedl syndrome 17 11.1
514 senior-loken syndrome 8 11.1
515 night blindness, congenital stationary, type 1g 11.1
516 fukuyama type muscular dystrophy 11.1
517 congenital disorder of glycosylation, type ia 11.1
518 macular dystrophy, vitelliform, 4 11.1
519 central serous chorioretinopathy 11.0
520 thyrocerebroretinal syndrome 11.0
521 tietz albinism-deafness syndrome 11.0
522 microcephaly and chorioretinopathy, autosomal recessive, 3 11.0
523 usher syndrome, type iv 11.0
524 alezzandrini syndrome 11.0
525 hydrops, lactic acidosis, and sideroblastic anemia 11.0
526 vitreoretinopathy 11.0
527 intraocular pressure quantitative trait locus 11.0
528 epiphyseal dysplasia, multiple, with myopia and conductive deafness 10.9
529 foveal hypoplasia 1 10.9
530 peroxisome biogenesis disorder 2b 10.9
531 ectopia lentis et pupillae 10.9
532 night blindness, congenital stationary, type 1b 10.9
533 peroxisome biogenesis disorder 3b 10.9
534 spondylocarpotarsal synostosis syndrome 10.9
535 night blindness, congenital stationary, type 1a 10.9
536 oculoectodermal syndrome 10.9
537 albinism, oculocutaneous, type ib 10.9
538 joubert syndrome 2 10.9
539 foveal hypoplasia 2 10.9
540 joubert syndrome 5 10.9
541 cavitary optic disc anomalies 10.9
542 nephronophthisis 12 10.9
543 cranioectodermal dysplasia 3 10.9
544 brittle cornea syndrome 2 10.9
545 peroxisome biogenesis disorder 4b 10.9
546 peroxisome biogenesis disorder 5b 10.9
547 peroxisome biogenesis disorder 6b 10.9
548 peroxisome biogenesis disorder 7b 10.9
549 peroxisome biogenesis disorder 11b 10.9
550 joubert syndrome 21 10.9
551 night blindness, congenital stationary, type 1h 10.9
552 cone-rod dystrophy and hearing loss 1 10.9
553 joubert syndrome 33 10.9
554 mitochondrial complex v deficiency, nuclear type 5 10.9
555 joubert syndrome 35 10.9
556 neurodevelopmental disorder with visual defects and brain anomalies 10.9
557 ayazi syndrome 10.9
558 cerebellar hypoplasia tapetoretinal degeneration 10.9
559 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.9
560 col4a1-related brain small-vessel disease 10.9
561 autosomal recessive chorioretinopathy-microcephaly syndrome 10.9
562 uveitis 10.9
563 macular holes 10.9
564 cataract 10.9
565 vasculitis 10.9
566 bile acid synthesis defect, congenital, 4 10.9
567 lethal congenital contracture syndrome 5 10.9
568 ruvalcaba churesigaew myhre syndrome 10.9
569 microvascular complications of diabetes 1 10.8
570 microvascular complications of diabetes 2 10.8
571 open-angle glaucoma 10.8
572 vascular disease 10.8
573 anemia, congenital dyserythropoietic, type iii 10.8
574 coloboma of optic nerve 10.8
575 hypoparathyroidism, sensorineural deafness, and renal disease 10.8
576 macular dystrophy, vitelliform, 1 10.8
577 microspherophakia-metaphyseal dysplasia 10.8
578 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.8
579 otodental dysplasia 10.8
580 glaucoma 1, open angle, p 10.8
581 acrocallosal syndrome 10.8
582 gillespie syndrome 10.8
583 cerebrotendinous xanthomatosis 10.8
584 apparent mineralocorticoid excess 10.8
585 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 10.8
586 ermine phenotype 10.8
587 heimler syndrome 1 10.8
588 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy 10.8
589 baraitser-winter syndrome 1 10.8
590 chylomicron retention disease 10.8
591 hsd10 mitochondrial disease 10.8
592 albinism, ocular, type i 10.8
593 albinism, ocular, with late-onset sensorineural deafness 10.8
594 joubert syndrome 10 10.8
595 macular degeneration, x-linked atrophic 10.8
596 bornholm eye disease 10.8
597 spastic paraparesis and deafness 10.8
598 cerebellar ataxia, cayman type 10.8
599 stickler syndrome, type ii 10.8
600 lethal congenital contracture syndrome 2 10.8
601 microphthalmia, syndromic 6 10.8
602 spondylometaphyseal dysplasia with cone-rod dystrophy 10.8
603 pierson syndrome 10.8
604 senior-loken syndrome 5 10.8
605 macular degeneration, age-related, 7 10.8
606 senior-loken syndrome 6 10.8
607 night blindness, congenital stationary, autosomal dominant 3 10.8
608 optic atrophy 5 10.8
609 macular degeneration, age-related, 9 10.8
610 macular degeneration, age-related, 10 10.8
611 joubert syndrome 7 10.8
612 macular degeneration, age-related, 11 10.8
613 nephronophthisis-like nephropathy 1 10.8
614 night blindness, congenital stationary, type 1c 10.8
615 oguchi disease 2 10.8
616 cranioectodermal dysplasia 2 10.8
617 macular degeneration, age-related, 6 10.8
618 macular degeneration, age-related, 5 10.8
619 macular degeneration, age-related, 8 10.8
620 macular degeneration, age-related, 12 10.8
621 night blindness, congenital stationary, type 1d 10.8
622 stickler syndrome, type iv 10.8
623 joubert syndrome 13 10.8
624 meckel syndrome, type 10 10.8
625 stickler syndrome, type v 10.8
626 myopia, high, with cataract and vitreoretinal degeneration 10.8
627 alpha-methylacyl-coa racemase deficiency 10.8
628 joubert syndrome 15 10.8
629 joubert syndrome 16 10.8
630 leukoencephalopathy, brain calcifications, and cysts 10.8
631 joubert syndrome 17 10.8
632 joubert syndrome 18 10.8
633 nephronophthisis 15 10.8
634 peroxisome biogenesis disorder 8b 10.8
635 joubert syndrome 20 10.8
636 night blindness, congenital stationary, type 1f 10.8
637 muscular dystrophy-dystroglycanopathy , type a, 14 10.8
638 macular degeneration, age-related, 13 10.8
639 bardet-biedl syndrome 13 10.8
640 bardet-biedl syndrome 14 10.8
641 bardet-biedl syndrome 18 10.8
642 bardet-biedl syndrome 19 10.8
643 adams-oliver syndrome 5 10.8
644 macular dystrophy with central cone involvement 10.8
645 joubert syndrome 23 10.8
646 adams-oliver syndrome 6 10.8
647 heimler syndrome 2 10.8
648 senior-loken syndrome 9 10.8
649 joubert syndrome 24 10.8
650 joubert syndrome 25 10.8
651 joubert syndrome 26 10.8
652 bone marrow failure syndrome 3 10.8
653 bardet-biedl syndrome 20 10.8
654 joubert syndrome 27 10.8
655 joubert syndrome 28 10.8
656 anterior segment dysgenesis 8 10.8
657 cerebroretinal microangiopathy with calcifications and cysts 2 10.8
658 meckel syndrome 13 10.8
659 joubert syndrome 30 10.8
660 joint laxity, short stature, and myopia 10.8
661 joubert syndrome 32 10.8
662 joubert syndrome 31 10.8
663 leber congenital amaurosis with early-onset deafness 10.8
664 jaberi-elahi syndrome 10.8
665 cerebellar, ocular, craniofacial, and genital syndrome 10.8
666 usher syndrome, type 1m 10.8
667 arterial calcification of infancy 10.8
668 charcot-marie-tooth disease type 7 10.8
669 acquired night blindness 10.8
670 2-methyl-3-hydroxybutyric aciduria 10.8
671 refsum disease, infantile form 10.8
672 ring chromosome 17 10.8
673 spastic paraplegia 10 10.8
674 alg6-congenital disorder of glycosylation 10.8
675 acquired immunodeficiency syndrome 10.7
676 diabetic macular edema 10.7
677 refractive error 10.7
678 ischemia 10.7
679 ocular hypertension 10.7
680 neuritis 10.7
681 optic neuritis 10.7
682 vitreous detachment 10.7
683 neuropathy 10.6
684 chickenpox 10.6
685 hyperglycemia 10.6
686 neovascular glaucoma 10.6
687 herpes simplex 10.6
688 endophthalmitis 10.6
689 telangiectasis 10.6
690 familial retinoblastoma 10.6
691 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.6
692 butterfly-shaped pigment dystrophy 10.6
693 hemangioma 10.6
694 thrombosis 10.6
695 strabismus 10.6
696 mechanical strabismus 10.6
697 immune deficiency disease 10.5
698 hypoxia 10.5
699 leber congenital amaurosis 16 10.5
700 leber congenital amaurosis 17 10.5
701 ataxia and polyneuropathy, adult-onset 10.5
702 suppression amblyopia 10.5
703 amblyopia 10.5
704 multiple sclerosis 10.5
705 chorioretinitis 10.5
706 fundus pulverulentus 10.5
707 toxoplasmosis 10.5
708 aneurysm 10.5
709 myopic macular degeneration 10.5
710 iridocyclitis 10.5
711 branchiootic syndrome 1 10.5
712 human immunodeficiency virus type 1 10.5
713 migraine with or without aura 1 10.5
714 diabetes mellitus 10.5
715 melioidosis 10.4
716 homocysteinemia 10.4
717 angiomatosis 10.4
718 posterior uveitis 10.4
719 panuveitis 10.4
720 systemic lupus erythematosus 10.4
721 lupus erythematosus 10.4
722 neurofibromatosis, type iv, of riccardi 10.4
723 thrombophilia due to thrombin defect 10.4
724 alzheimer disease 10.4
725 autoimmune uveitis 10.4
726 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4
727 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
728 background diabetic retinopathy 10.4
729 cholera 10.4
730 sarcoidosis 1 10.4
731 thrombophilia 10.4
732 tuberous sclerosis 10.4
733 nonarteritic anterior ischemic optic neuropathy 10.4
734 cytokine deficiency 10.4
735 carotid stenosis 10.4
736 arteriosclerosis 10.4
737 encephalitis 10.4
738 choroiditis 10.4
739 posttransplant acute limbic encephalitis 10.4
740 48,xyyy 10.4
741 cerebrovascular disease 10.4
742 47,xyy 10.4
743 pre-eclampsia 10.4
744 autoimmune disease 10.4
745 atherosclerosis susceptibility 10.4
746 papillomatosis, confluent and reticulated 10.4
747 papilledema 10.4
748 antiphospholipid syndrome 10.4
749 hereditary optic neuropathy 10.4
750 capillary hemangioma 10.3
751 astigmatism 10.3
752 melanoma 10.3
753 hemangioblastoma 10.3
754 helix syndrome 10.3
755 astrocytoma 10.3
756 leukostasis 10.3
757 rubeosis iridis 10.3
758 pertussis 10.3
759 albinism 10.3
760 ocular toxoplasmosis 10.3
761 lipid metabolism disorder 10.3
762 hypercholesterolemia, familial, 1 10.3
763 syphilis 10.3
764 encephalopathy 10.3
765 familial adenomatous polyposis 10.3
766 autosomal recessive disease 10.3
767 dowling-degos disease 1 10.3
768 kidney disease 10.3
769 herpes zoster 10.3
770 amaurosis fugax 10.3
771 sickle cell disease 10.3
772 head injury 10.3
773 aging 10.3
774 keratopathy 10.3
775 relapsing-remitting multiple sclerosis 10.3
776 cancer-associated retinopathy 10.3
777 hypertension, essential 10.3
778 kearns-sayre syndrome 10.3
779 ciliopathy 10.3
780 arteriovenous malformation 10.3
781 scleritis 10.3
782 foster-kennedy syndrome 10.3
783 cytomegalovirus infection 10.3
784 sleep apnea 10.3
785 periodontal ehlers-danlos syndrome 10.3
786 lymphocytic leukemia 10.3
787 intracranial hypertension 10.3
788 glial tumor 10.3
789 dermatitis, atopic 10.2
790 muscular dystrophy 10.2
791 glioma 10.2
792 optic papillitis 10.2
793 exophthalmos 10.2
794 vogt-koyanagi-harada disease 10.2
795 cavernous hemangioma 10.2
796 neuronal ceroid lipofuscinosis 10.2
797 b-cell lymphoma 10.2
798 rapidly involuting congenital hemangioma 10.2
799 sensorineural hearing loss 10.2
800 iritis 10.2
801 arteries, anomalies of 10.2
802 keratitis, hereditary 10.2
803 insulin-like growth factor i 10.2
804 deficiency anemia 10.2
805 purpura 10.2
806 severe nonproliferative diabetic retinopathy 10.2
807 monocular esotropia 10.2
808 hemosiderosis 10.2
809 eclampsia 10.2
810 dermatitis 10.2
811 carotid artery disease 10.2
812 esotropia 10.2
813 allergic encephalomyelitis 10.2
814 adenoma 10.2
815 neuromyelitis optica 10.2
816 hypoglycemia 10.2
817 traumatic brain injury 10.2
818 parkinson disease, late-onset 10.2
819 leukemia 10.2
820 autosomal dominant cerebellar ataxia 10.2
821 stroke, ischemic 10.2
822 lymphoma 10.2
823 headache 10.2
824 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2
825 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
826 rare hereditary hemochromatosis 10.2
827 blind hypotensive eye 10.2
828 chronic kidney disease 10.2
829 myopathy 10.2
830 end stage renal failure 10.2
831 carotid artery occlusion 10.2
832 hypotonia 10.2
833 leukemia, acute lymphoblastic 10.2
834 corneal edema 10.2
835 ocular dominance 10.2
836 tuberous sclerosis 1 10.2
837 incontinentia pigmenti 10.2
838 angioid streaks 10.2
839 hydrocephalus 10.2
840 neutropenia 10.2
841 anisometropia 10.2
842 weber syndrome 10.2
843 ocular motor apraxia 10.2
844 intermediate uveitis 10.2
845 glomerulonephritis 10.2
846 polykaryocytosis inducer 10.1
847 thrombophilia due to activated protein c resistance 10.1
848 triiodothyronine receptor auxiliary protein 10.1
849 microvascular complications of diabetes 3 10.1
850 microvascular complications of diabetes 4 10.1
851 microvascular complications of diabetes 6 10.1
852 microvascular complications of diabetes 7 10.1
853 thrombotic thrombocytopenic purpura 10.1
854 chorioretinal scar 10.1
855 primary angle-closure glaucoma 10.1
856 peripheral nervous system disease 10.1
857 anoxia 10.1
858 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.1
859 optic nerve hypoplasia, bilateral 10.1
860 sturge-weber syndrome 10.1
861 body mass index quantitative trait locus 1 10.1
862 keratomalacia 10.1
863 hyperlipoproteinemia, type iii 10.1
864 keratoconus 10.1
865 coronary artery anomaly 10.1
866 sympathetic ophthalmia 10.1
867 allergic hypersensitivity disease 10.1
868 severe combined immunodeficiency 10.1
869 depression 10.1
870 tremor 10.1
871 malaria 10.1
872 alternating exotropia 10.1
873 exotropia 10.1
874 polyneuropathy 10.1
875 thrombocytopenia 10.1
876 adenocarcinoma 10.1
877 rubella 10.1
878 optic disc pit 10.1
879 dementia 10.1
880 pik3ca-related overgrowth syndrome 10.1
881 amyotrophic lateral sclerosis 1 10.1
882 galactosemia 10.1
883 malignant hypertension 10.1
884 heart disease 10.1
885 severe pre-eclampsia 10.1
886 transient cerebral ischemia 10.1
887 lateral sclerosis 10.1
888 hemoglobinopathy 10.1
889 myeloid leukemia 10.1
890 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
891 coronary heart disease 1 10.1
892 exanthem 10.1
893 endocarditis 10.1
894 acute closed-angle glaucoma 10.1
895 histoplasmosis 10.1
896 iron metabolism disease 10.1
897 polycythemia 10.1
898 crohn's disease 10.1
899 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.1
900 fleck retina of kandori 10.1
901 atypical norrie disease due to xp11.3 microdeletion 10.1
902 multifocal pattern dystrophy simulating fundus flavimaculatus 10.1
903 schizophrenia 10.1
904 subacute sclerosing panencephalitis 10.1
905 cycloplegia 10.1
906 protein s deficiency 10.1
907 teratoma 10.1
908 conjunctivitis 10.1
909 fibrosis of extraocular muscles, congenital, 1 10.1
910 exfoliation syndrome 10.1
911 proteasome-associated autoinflammatory syndrome 1 10.1
912 cat-scratch disease 10.1
913 apnea, obstructive sleep 10.1
914 diabetes mellitus, insulin-dependent 10.1
915 posterior scleritis 10.1
916 churg-strauss syndrome 10.1
917 malignant choroid melanoma 10.1
918 diabetic neuropathy 10.1
919 herpes simplex encephalitis 10.1
920 multifocal choroiditis 10.1
921 neuromyelitis optica spectrum disorder 10.1
922 wallerian degeneration 10.1
923 wyburn-mason syndrome 10.1
924 brain injury 10.1
925 muscular dystrophy, duchenne type 10.1
926 alacrima, achalasia, and mental retardation syndrome 10.1
927 mucopolysaccharidosis-plus syndrome 10.1
928 aniseikonia 10.1
929 hypopyon 10.1
930 lysosomal storage disease 10.1
931 measles 10.1
932 meningitis 10.1
933 allergic angiitis 10.1
934 farsightedness 10.1
935 huntington disease 10.0
936 polydactyly 10.0
937 birdshot chorioretinopathy 10.0
938 major affective disorder 8 10.0
939 major affective disorder 9 10.0
940 siderosis 10.0
941 bipolar disorder 10.0
942 neuroblastoma 10.0
943 melanoma-associated retinopathy 10.0
944 neurofibromatosis, type ii 10.0
945 marfan syndrome 10.0
946 fryns microphthalmia syndrome 10.0
947 sickle cell anemia 10.0
948 bainbridge-ropers syndrome 10.0
949 ptosis 10.0
950 thalassemia 10.0
951 hellp syndrome 10.0
952 hypothyroidism 10.0
953 connective tissue disease 10.0
954 homocystinuria 10.0
955 alopecia 10.0
956 ndp-related retinopathies 10.0
957 herpes zoster ophthalmicus 10.0
958 ring chromosome 2 10.0
959 overgrowth syndrome 10.0
960 facioscapulohumeral muscular dystrophy 1 10.0
961 myeloma, multiple 10.0
962 smith-lemli-opitz syndrome 10.0
963 pulmonary hypertension 10.0
964 ocular albinism 10.0
965 iron deficiency anemia 10.0
966 vitreous syneresis 10.0
967 nephrotic syndrome 10.0
968 acute leukemia 10.0
969 patent foramen ovale 10.0
970 hypogonadism 10.0
971 thrombocytosis 10.0
972 congestive heart failure 10.0
973 hypogonadotropism 10.0
974 amyloidosis 10.0
975 cerebral atrophy 10.0
976 seizure disorder 10.0
977 argyria 10.0
978 aniridia 1 10.0
979 hypertriglyceridemia, familial 10.0
980 posterior column ataxia 10.0
981 leukemia, acute myeloid 10.0
982 west syndrome 10.0
983 inflammatory bowel disease 10.0
984 arteritic anterior ischemic optic neuropathy 10.0
985 diphtheria 10.0
986 skin melanoma 10.0
987 congenital nystagmus 10.0
988 mitochondrial disorders 10.0
989 chromosomal triplication 10.0
990 acute macular neuroretinopathy 10.0
991 arterial tortuosity syndrome 10.0
992 glaucoma, normal tension 10.0
993 chorea, childhood-onset, with psychomotor retardation 10.0
994 migraine with aura 10.0
995 choreatic disease 10.0
996 impotence 10.0
997 hepatitis c 10.0
998 gaucher's disease 10.0
999 hyperinsulinism 10.0
1000 systemic scleroderma 10.0
1001 polyarteritis nodosa 10.0
1002 rheumatoid arthritis 10.0
1003 temporal arteritis 10.0
1004 glaucoma-related pigment dispersion syndrome 10.0
1005 major depressive disorder 10.0
1006 secondary progressive multiple sclerosis 10.0
1007 polycystic kidney disease 10.0
1008 alport syndrome 10.0
1009 orbital cellulitis 10.0
1010 leukocoria 10.0
1011 rheumatic disease 10.0
1012 essential thrombocythemia 10.0
1013 demyelinating disease 10.0
1014 cellulitis 10.0
1015 pituitary adenoma 10.0
1016 ulcerative colitis 10.0
1017 macroglobulinemia 10.0
1018 dwarfism 10.0
1019 color vision deficiency 10.0
1020 breast cancer 10.0
1021 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.0
1022 scleroderma, familial progressive 10.0
1023 down syndrome 10.0
1024 familial mediterranean fever 10.0
1025 leukemia, acute lymphoblastic 3 10.0
1026 autoimmune optic neuritis 10.0
1027 colitis 10.0
1028 meningoencephalitis 10.0
1029 autonomic neuropathy 10.0
1030 gestational diabetes 10.0
1031 visual epilepsy 10.0
1032 chronic progressive external ophthalmoplegia 10.0
1033 heart septal defect 10.0
1034 epilepsy 10.0
1035 acromegaly 10.0
1036 pulmonary tuberculosis 10.0
1037 senile cataract 10.0
1038 toxocariasis 10.0
1039 myotonic dystrophy 10.0
1040 behcet syndrome 9.9
1041 gaucher disease, type i 9.9
1042 opitz gbbb syndrome, type i 9.9
1043 west nile virus 9.9
1044 small cell carcinoma 9.9
1045 pain agnosia 9.9
1046 atrial fibrillation 9.9
1047 lens subluxation 9.9
1048 dyskeratosis congenita 9.9
1049 pustulosis of palm and sole 9.9
1050 scrapie 9.9
1051 psoriasis 9.9
1052 stomatitis 9.9
1053 hypereosinophilic syndrome 9.9
1054 neonatal herpes 9.9
1055 toxic maculopathy due to antimalarial drugs 9.9
1056 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.9
1057 renal cell carcinoma, nonpapillary 9.9
1058 pulmonary disease, chronic obstructive 9.9
1059 graft-versus-host disease 9.9
1060 spastic ataxia 9.9
1061 scleral staphyloma 9.9
1062 inflammatory spondylopathy 9.9
1063 pancytopenia 9.9
1064 chronic closed-angle glaucoma 9.9
1065 candidiasis 9.9
1066 sensory peripheral neuropathy 9.9
1067 bilateral retinoblastoma 9.9
1068 paraplegia 9.9
1069 lymphopenia 9.9
1070 combined t cell and b cell immunodeficiency 9.9
1071 spondylitis 9.9
1072 t-cell leukemia 9.9
1073 nervous system disease 9.9
1074 acute mountain sickness 9.9
1075 spondyloarthropathy 1 9.9
1076 colorectal cancer 9.9
1077 multiple system atrophy 1 9.9
1078 familial adenomatous polyposis 1 9.9
1079 ceroid lipofuscinosis, neuronal, 3 9.9
1080 fabry disease 9.9
1081 orthostatic intolerance 9.9
1082 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 9.9
1083 meningioma, radiation-induced 9.9
1084 meningioma, familial 9.9
1085 myocardial infarction 9.9
1086 peripheral vascular disease 9.9
1087 primary congenital glaucoma 9.9
1088 leukodystrophy 9.9
1089 glucose intolerance 9.9
1090 chlamydia 9.9
1091 spinal meningioma 9.9
1092 corneal neovascularization 9.9
1093 onchocerciasis 9.9
1094 lyme disease 9.9
1095 hemolytic-uremic syndrome 9.9
1096 congenital toxoplasmosis 9.9
1097 mature cataract 9.9
1098 mental depression 9.9
1099 hyperuricemia 9.9
1100 myelitis 9.9
1101 central nervous system lymphoma 9.9
1102 chronic granulomatous disease 9.9
1103 central nervous system disease 9.9
1104 liver disease 9.9
1105 mutism 9.9
1106 secretory meningioma 9.9
1107 lymphoplasmacyte-rich meningioma 9.9
1108 primary ciliary dyskinesia 9.9
1109 x-linked congenital stationary night blindness 9.9
1110 congenital cytomegalovirus 9.9
1111 hypertonia 9.9
1112 cerebrofacial arteriovenous metameric syndrome 9.9
1113 mandibulofacial dysostosis, guion-almeida type 9.9 SNRNP200 PRPF3
1114 pheochromocytoma 9.9
1115 tritanopia 9.9
1116 ceroid storage disease 9.9
1117 corneal dystrophy, band-shaped 9.9
1118 hemochromatosis, type 1 9.9
1119 laryngoonychocutaneous syndrome 9.9
1120 body mass index quantitative trait locus 11 9.9
1121 aplastic anemia 9.9
1122 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
1123 neuronal ceroid-lipofuscinoses 9.9
1124 brachydactyly 9.9
1125 oculocutaneous albinism 9.9
1126 primary progressive multiple sclerosis 9.9
1127 adrenal gland pheochromocytoma 9.9
1128 hereditary ataxia 9.9
1129 asymptomatic neurosyphilis 9.9
1130 hemiplegia 9.9
1131 sarcoma 9.9
1132 dengue disease 9.9
1133 coccidioidomycosis 9.9
1134 ichthyosis 9.9
1135 squamous cell carcinoma 9.9
1136 facial hemiatrophy 9.9
1137 lactic acidosis 9.9
1138 protein c deficiency 9.9
1139 spindle cell sarcoma 9.9
1140 hemolytic anemia 9.9
1141 lung disease 9.9
1142 hemophilia 9.9
1143 complete androgen insensitivity syndrome 9.9
1144 growth hormone deficiency 9.9
1145 neurosyphilis 9.9
1146 optic pathway glioma 9.9
1147 autonomic dysfunction 9.9
1148 spasticity 9.9
1149 autosomal recessive spastic ataxia 9.9
1150 juvenile nephronophthisis 9.9
1151 diabetes mellitus, noninsulin-dependent 9.9
1152 hemifacial atrophy, progressive 9.9
1153 pulmonary hypertension, primary, 1 9.9
1154 cystic fibrosis 9.9
1155 myasthenia gravis 9.9
1156 asplenia, isolated congenital 9.9
1157 brittle bone disorder 9.9
1158 granulomatosis with polyangiitis 9.9
1159 cyanosis, transient neonatal 9.9
1160 chikungunya 9.9
1161 diffuse large b-cell lymphoma 9.9
1162 good syndrome 9.9
1163 cerebral artery occlusion 9.9
1164 tetanus 9.9
1165 presbyopia 9.9
1166 common variable immunodeficiency 9.9
1167 acute retrobulbar neuritis 9.9
1168 atrial heart septal defect 9.9
1169 membranoproliferative glomerulonephritis 9.9
1170 acute kidney failure 9.9
1171 early myoclonic encephalopathy 9.9
1172 mood disorder 9.9
1173 cranial nerve palsy 9.9
1174 secondary syphilis 9.9
1175 orofaciodigital syndrome 9.9
1176 unilateral retinoblastoma 9.9
1177 brain edema 9.9
1178 dystonia 9.9
1179 viral encephalitis 9.9
1180 mitochondrial metabolism disease 9.9
1181 influenza 9.9
1182 fuchs' heterochromic uveitis 9.9
1183 alopecia areata 9.9
1184 cerebellar hypoplasia 9.9
1185 encephalocele 9.9
1186 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 9.9
1187 ornithinemia 9.9
1188 ring chromosome 3 9.9
1189 cerebral arteriosclerosis 9.9
1190 premature aging 9.9
1191 pfeiffer syndrome 9.8
1192 blood group--newfoundland 9.8
1193 osteoporosis 9.8
1194 takayasu arteritis 9.8
1195 leukoencephalopathy, hereditary diffuse, with spheroids 9.8
1196 lymphoma, hodgkin, classic 9.8
1197 thymoma, familial 9.8
1198 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8
1199 body mass index quantitative trait locus 9 9.8
1200 body mass index quantitative trait locus 8 9.8
1201 body mass index quantitative trait locus 4 9.8
1202 body mass index quantitative trait locus 10 9.8
1203 body mass index quantitative trait locus 7 9.8
1204 bone mineral density quantitative trait locus 8 9.8
1205 body mass index quantitative trait locus 12 9.8
1206 body mass index quantitative trait locus 14 9.8
1207 lung cancer susceptibility 3 9.8
1208 muscular dystrophy, congenital, lmna-related 9.8
1209 bone mineral density quantitative trait locus 15 9.8
1210 myelodysplastic syndrome 9.8
1211 body mass index quantitative trait locus 18 9.8
1212 body mass index quantitative trait locus 19 9.8
1213 body mass index quantitative trait locus 20 9.8
1214 lissencephaly 9.8
1215 adult t-cell leukemia 9.8
1216 metabolic acidosis 9.8
1217 peripheral artery disease 9.8
1218 scoliosis 9.8
1219 paroxysmal nocturnal hemoglobinuria 9.8
1220 corneal disease 9.8
1221 dermatomyositis 9.8
1222 ametropic amblyopia 9.8
1223 interstitial nephritis 9.8
1224 juvenile glaucoma 9.8
1225 renal hypertension 9.8
1226 rabies 9.8
1227 migraine without aura 9.8
1228 diarrhea 9.8
1229 rift valley fever 9.8
1230 agammaglobulinemia 9.8
1231 thymoma 9.8
1232 mixed connective tissue disease 9.8
1233 thrombophlebitis 9.8
1234 pancreatitis 9.8
1235 optic nerve glioma 9.8
1236 arteriolosclerosis 9.8
1237 hemoglobinuria 9.8
1238 ocular hypotension 9.8
1239 vascular dementia 9.8
1240 carotid artery dissection 9.8
1241 keratoconjunctivitis 9.8
1242 diabetes insipidus 9.8
1243 fatty liver disease 9.8
1244 pulmonary embolism 9.8
1245 neurofibroma 9.8
1246 serpiginous choroiditis 9.8
1247 transverse myelitis 9.8
1248 raynaud phenomenon 9.8
1249 myoclonus 9.8
1250 pituitary tumors 9.8
1251 whiplash 9.8
1252 methanol poisoning 9.8
1253 rare surgical neurologic disease 9.8
1254 thrombotic microangiopathy 9.8
1255 atrial standstill 1 9.8
1256 cleft palate, isolated 9.8
1257 creutzfeldt-jakob disease 9.8
1258 esophageal cancer 9.8
1259 fibromuscular dysplasia 9.8
1260 attention deficit-hyperactivity disorder 9.8
1261 hypertelorism 9.8
1262 kaposi sarcoma 9.8
1263 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.8
1264 ataxia-telangiectasia 9.8
1265 celiac disease 1 9.8
1266 chediak-higashi syndrome 9.8
1267 intracranial hypertension, idiopathic 9.8
1268 polycythemia vera 9.8
1269 reticulum cell sarcoma 9.8
1270 orofaciodigital syndrome i 9.8
1271 lymphoma, non-hodgkin, familial 9.8
1272 anxiety 9.8
1273 leukemia, chronic myeloid 9.8
1274 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 9.8
1275 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 9.8
1276 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.8
1277 hepatitis c virus 9.8
1278 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.8
1279 diabetes mellitus, ketosis-prone 9.8
1280 aspergillosis 9.8
1281 dengue virus 9.8
1282 hemophagocytic lymphohistiocytosis 9.8
1283 autism spectrum disorder 9.8
1284 anterior segment dysgenesis 9.8
1285 non-alcoholic fatty liver disease 9.8
1286 mucolipidosis 9.8
1287 bacterial infectious disease 9.8
1288 charcot-marie-tooth disease 9.8
1289 portal hypertension 9.8
1290 filariasis 9.8
1291 spotted fever 9.8
1292 disseminated intravascular coagulation 9.8
1293 nephrocalcinosis 9.8
1294 hereditary hemorrhagic telangiectasia 9.8
1295 toxic optic neuropathy 9.8
1296 boutonneuse fever 9.8
1297 cholesterol embolism 9.8
1298 methylmalonic acidemia 9.8
1299 olivopontocerebellar atrophy 9.8
1300 enthesopathy 9.8
1301 ectodermal dysplasia 9.8
1302 corneal dystrophy 9.8
1303 glucosephosphate dehydrogenase deficiency 9.8
1304 acute pancreatitis 9.8
1305 cryoglobulinemia 9.8
1306 cystic kidney disease 9.8
1307 iga glomerulonephritis 9.8
1308 heart valve disease 9.8
1309 human immunodeficiency virus infectious disease 9.8
1310 acute t cell leukemia 9.8
1311 prion disease 9.8
1312 mitochondrial myopathy 9.8
1313 situs inversus 9.8
1314 learning disability 9.8
1315 autosomal dominant polycystic kidney disease 9.8
1316 cataract-glaucoma 9.8
1317 charles bonnet syndrome 9.8
1318 primary central nervous system lymphoma 9.8
1319 early-onset glaucoma 9.8
1320 cerebral aneurysms 9.8
1321 mucopolysaccharidoses 9.8
1322 paraneoplastic syndromes 9.8
1323 cerebral visual impairment 9.8
1324 isolated optic neuritis 9.8
1325 rare tumor 9.8
1326 alcohol dependence 9.8
1327 machado-joseph disease 9.8
1328 bladder cancer 9.8
1329 cerebral cavernous malformations 9.8
1330 coarctation of aorta 9.8
1331 hair whorl 9.8
1332 myositis 9.8
1333 ovarian cancer 9.8
1334 schistosoma mansoni infection, susceptibility/ 9.8
1335 sneddon syndrome 9.8
1336 volvulus of midgut 9.8
1337 short-rib thoracic dysplasia 1 with or without polydactyly 9.8
1338 factor xii deficiency 9.8
1339 mckusick-kaufman syndrome 9.8
1340 hypoascorbemia 9.8
1341 leigh syndrome 9.8
1342 danon disease 9.8
1343 frontotemporal dementia 9.8
1344 congenital disorder of glycosylation, type in 9.8
1345 muscle hypertrophy 9.8
1346 leptin deficiency or dysfunction 9.8
1347 nonsyndromic deafness 9.8
1348 lymphoplasmacytic lymphoma 9.8
1349 infective endocarditis 9.8
1350 crohn's colitis 9.8
1351 rickets 9.8
1352 wolfram syndrome 9.8
1353 pulmonary edema 9.8
1354 cortical blindness 9.8
1355 aseptic meningitis 9.8
1356 gout 9.8
1357 typhoid fever 9.8
1358 megaloblastic anemia 9.8
1359 visual pathway disease 9.8
1360 schistosomiasis 9.8
1361 vitreoretinal dystrophy 9.8
1362 gonadal dysgenesis 9.8
1363 ventricular septal defect 9.8
1364 mononeuritis multiplex 9.8
1365 neuroma 9.8
1366 primary hyperoxaluria 9.8
1367 turner syndrome 9.8
1368 cavernous sinus thrombosis 9.8
1369 craniopharyngioma 9.8
1370 holoprosencephaly 9.8
1371 intraocular retinoblastoma 9.8
1372 borna disease 9.8
1373 infertility 9.8
1374 pneumonia 9.8
1375 juvenile rheumatoid arthritis 9.8
1376 juvenile pilocytic astrocytoma 9.8
1377 arthritis 9.8
1378 collagen disease 9.8
1379 hypopituitarism 9.8
1380 acute myocardial infarction 9.8
1381 bronchiectasis 9.8
1382 hypertropia 9.8
1383 congenital hepatic fibrosis 9.8
1384 vcan-related vitreoretinopathy 9.8
1385 bronchopulmonary dysplasia 9.8
1386 chronic graft versus host disease 9.8
1387 coloboma of iris 9.8
1388 granulocytopenia 9.8
1389 light chain deposition disease 9.8
1390 microscopic polyangiitis 9.8
1391 muscle eye brain disease 9.8
1392 ring chromosome 5 9.8
1393 spastic paraparesis 9.8
1394 splenomegaly 9.8
1395 juvenile nasopharyngeal angiofibroma 9.8
1396 benign idiopathic neonatal seizures 9.8
1397 laminopathy 9.8
1398 aortic valve disease 1 9.7
1399 cardiac arrhythmia 9.7
1400 factor viii deficiency 9.7
1401 spondyloepiphyseal dysplasia with congenital joint dislocations 9.7
1402 leukemia, chronic lymphocytic 9.7
1403 neurofibromatosis, type i 9.7
1404 hutchinson-gilford progeria syndrome 9.7
1405 septooptic dysplasia 9.7
1406 neural tube defects 9.7
1407 tetralogy of fallot 9.7
1408 varicose veins 9.7
1409 autism 9.7
1410 cryptorchidism, unilateral or bilateral 9.7
1411 3-hydroxyacyl-coa dehydrogenase deficiency 9.7
1412 hallermann-streiff syndrome 9.7
1413 mucopolysaccharidosis, type vii 9.7
1414 myelofibrosis 9.7
1415 myoclonic epilepsy of unverricht and lundborg 9.7
1416 peters-plus syndrome 9.7
1417 prepapillary vascular loops 9.7
1418 sudden infant death syndrome 9.7
1419 vitamin e, familial isolated deficiency of 9.7
1420 wilson disease 9.7
1421 tubulin, beta 9.7
1422 hemophilia a 9.7
1423 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.7
1424 supranuclear palsy, progressive, 1 9.7
1425 diamond-blackfan anemia 2 9.7
1426 nasopharyngeal carcinoma 9.7
1427 mycobacterium tuberculosis 1 9.7
1428 myopia 6 9.7
1429 kawasaki disease 9.7
1430 fetal alcohol syndrome 9.7
1431 alcohol-related birth defect 9.7
1432 paraganglioma 9.7
1433 ameloblastoma 9.7
1434 cardiac arrest 9.7
1435 cysticercosis 9.7
1436 blepharophimosis 9.7
1437 protein-losing enteropathy 9.7
1438 cystinosis 9.7
1439 tooth disease 9.7
1440 respiratory failure 9.7
1441 polycystic ovary syndrome 9.7
1442 diabetic angiopathy 9.7
1443 ischemic neuropathy 9.7
1444 lymphocytic choriomeningitis 9.7
1445 acoustic neuroma 9.7
1446 mucopolysaccharidosis iii 9.7
1447 hereditary spherocytosis 9.7
1448 facial paralysis 9.7
1449 poems syndrome 9.7
1450 toxic shock syndrome 9.7
1451 alcohol use disorder 9.7
1452 mitral valve stenosis 9.7
1453 hepatitis b 9.7
1454 myeloproliferative neoplasm 9.7
1455 nocardiosis 9.7
1456 craniosynostosis 9.7
1457 idiopathic interstitial pneumonia 9.7
1458 acquired polycythemia 9.7
1459 hairy cell leukemia 9.7
1460 hemoglobin c disease 9.7
1461 neurilemmoma 9.7
1462 histiocytosis 9.7
1463 aortic aneurysm 9.7
1464 skin disease 9.7
1465 plasmacytoma 9.7
1466 pulmonary fibrosis 9.7
1467 placental insufficiency 9.7
1468 ebola hemorrhagic fever 9.7
1469 neuromuscular disease 9.7
1470 hypotrichosis 9.7
1471 subacute bacterial endocarditis 9.7
1472 medulloepithelioma 9.7
1473 central nervous system vasculitis 9.7
1474 sleep disorder 9.7
1475 aortic valve insufficiency 9.7
1476 compartment syndrome 9.7
1477 muscular atrophy 9.7
1478 placenta disease 9.7
1479 hyperthyroidism 9.7
1480 cocaine abuse 9.7
1481 vein disease 9.7
1482 mitochondrial encephalomyopathy 9.7
1483 cleft lip 9.7
1484 blepharitis 9.7
1485 dacryoadenitis 9.7
1486 placental abruption 9.7
1487 accommodative esotropia 9.7
1488 interstitial keratitis 9.7
1489 c3 glomerulopathy 9.7
1490 genetic prion diseases 9.7
1491 anca-associated vasculitis 9.7
1492 catastrophic antiphospholipid syndrome 9.7
1493 cerebellar degeneration 9.7
1494 dense deposit disease 9.7
1495 methylmalonic acidemia with homocystinuria 9.7
1496 pediatric multiple sclerosis 9.7
1497 ring chromosome 6 9.7
1498 cavernous malformation 9.7
1499 dysautonomia 9.7
1500 paresthesia 9.7
1501 syncope 9.7
1502 endotheliitis 9.7
1503 infectious posterior uveitis 9.7
1504 oligocone trichromacy 9.7
1505 peripapillary staphyloma 9.7
1506 transient pseudohypoaldosteronism 9.7
1507 achondroplasia 9.6
1508 cerebral amyloid angiopathy, cst3-related 9.6
1509 anisocoria 9.6
1510 dentatorubral-pallidoluysian atrophy 9.6
1511 transient bullous dermolysis of the newborn 9.6
1512 diaphragmatic hernia, congenital 9.6
1513 hypercalciuria, absorptive, 2 9.6
1514 ichthyosis vulgaris 9.6
1515 klippel-trenaunay-weber syndrome 9.6
1516 lacrimal duct defect 9.6
1517 medulloblastoma 9.6
1518 meniere disease 9.6
1519 noonan syndrome 1 9.6
1520 hemifacial microsomia 9.6
1521 split-hand/foot malformation 1 9.6
1522 chromosome 2q35 duplication syndrome 9.6
1523 thrombocytopenic purpura, autoimmune 9.6
1524 digeorge syndrome 9.6
1525 torticollis 9.6
1526 trichomegaly 9.6
1527 albinism, oculocutaneous, type ii 9.6
1528 lung cancer 9.6
1529 cutis marmorata telangiectatica congenita 9.6
1530 wolfram syndrome 1 9.6
1531 neuropathy, hereditary sensory and autonomic, type iii 9.6
1532 fanconi anemia, complementation group a 9.6
1533 hemolytic uremic syndrome, atypical 1 9.6
1534 leprosy 3 9.6
1535 meckel syndrome, type 1 9.6
1536 metachromatic leukodystrophy 9.6
1537 moyamoya disease 1 9.6
1538 osteogenic sarcoma 9.6
1539 retinoschisis of fovea 9.6
1540 revesz syndrome 9.6
1541 sandhoff disease 9.6
1542 sjogren syndrome 9.6
1543 werner syndrome 9.6
1544 colorblindness, partial, deutan series 9.6
1545 hemophilia b 9.6
1546 menkes disease 9.6
1547 mucopolysaccharidosis, type ii 9.6
1548 androgen insensitivity, partial 9.6
1549 guanylate cyclase 2e, pseudogene 9.6
1550 nephronophthisis 2 9.6
1551 xanthomatosis 9.6
1552 alpha-thalassemia 9.6
1553 atrioventricular septal defect 9.6
1554 patent ductus arteriosus 1 9.6
1555 tubulointerstitial nephritis with uveitis 9.6
1556 myopia 17, autosomal dominant 9.6
1557 platelet glycoprotein iv deficiency 9.6
1558 nanophthalmos 2 9.6
1559 acute promyelocytic leukemia 9.6
1560 membranous nephropathy 9.6
1561 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.6
1562 chlamydia pneumonia 9.6
1563 ophthalmomyiasis 9.6
1564 congenital hypothyroidism 9.6
1565 fetal alcohol spectrum disorder 9.6
1566 chorioamnionitis 9.6
1567 vitamin b12 deficiency 9.6
1568 peripheral t-cell lymphoma 9.6
1569 rheumatic heart disease 9.6
1570 limb ischemia 9.6
1571 apraxia 9.6
1572 zika fever 9.6
1573 isolated growth hormone deficiency 9.6
1574 bone disease 9.6
1575 x-linked alport syndrome 9.6
1576 familial isolated trichomegaly 9.6
1577 brown's tendon sheath syndrome 9.6
1578 viral meningitis 9.6
1579 intracranial aneurysm 9.6
1580 bullous keratopathy 9.6
1581 aqueous misdirection 9.6
1582 allergic conjunctivitis 9.6
1583 trachoma 9.6
1584 pneumocystosis 9.6
1585 hemopericardium 9.6
1586 mitral valve insufficiency 9.6
1587 pericardial effusion 9.6
1588 esophagitis 9.6
1589 chagas disease 9.6
1590 graves' disease 9.6
1591 von willebrand's disease 9.6
1592 capillary disease 9.6
1593 tolosa-hunt syndrome 9.6
1594 ocular motility disease 9.6
1595 quadriplegia 9.6
1596 cardiovascular system disease 9.6
1597 keratoconjunctivitis sicca 9.6
1598 focal segmental glomerulosclerosis 9.6
1599 acute cystitis 9.6
1600 diabetic cataract 9.6
1601 ehlers-danlos syndrome 9.6
1602 osteopetrosis 9.6
1603 panophthalmitis 9.6
1604 anterior scleritis 9.6
1605 irregular astigmatism 9.6
1606 amenorrhea 9.6
1607 childhood type dermatomyositis 9.6
1608 oral candidiasis 9.6
1609 corneal ectasia 9.6
1610 axenfeld-rieger syndrome 9.6
1611 disease of mental health 9.6
1612 constipation 9.6
1613 hemorrhagic disease 9.6
1614 leptospirosis 9.6
1615 hereditary spastic paraplegia 9.6
1616 relapsing polychondritis 9.6
1617 larynx cancer 9.6
1618 glycogen storage disease 9.6
1619 interstitial lung disease 9.6
1620 germinoma 9.6
1621 angiomyolipoma 9.6
1622 uveal disease 9.6
1623 hermansky-pudlak syndrome 9.6
1624 pyoderma 9.6
1625 intracranial embolism 9.6
1626 dyslexia 9.6
1627 proliferative glomerulonephritis 9.6
1628 subependymal giant cell astrocytoma 9.6
1629 blepharospasm 9.6
1630 epulis 9.6
1631 eosinophilic pneumonia 9.6
1632 bronchitis 9.6
1633 posterior uveal melanoma 9.6
1634 axonal neuropathy 9.6
1635 pineal region germinoma 9.6
1636 mucormycosis 9.6
1637 subacute delirium 9.6
1638 genital herpes 9.6
1639 rosacea 9.6
1640 viral infectious disease 9.6
1641 bacterial meningitis 9.6
1642 yellow fever 9.6
1643 cyclotropia 9.6
1644 toxic maculopathy 9.6
1645 steroid-induced glaucoma 9.6
1646 craniofacial microsomia 9.6
1647 hypertrophic cardiomyopathy 9.6
1648 zellweger spectrum disorder 9.6
1649 aminoaciduria 9.6
1650 cluster headache 9.6
1651 congenital muscular dystrophy due to dystroglycanopathy 9.6
1652 congenital rubella 9.6
1653 dentinogenesis imperfecta type 2 9.6
1654 eisenmenger syndrome 9.6
1655 familial colorectal cancer 9.6
1656 gangliosidosis 9.6
1657 hansen's disease 9.6
1658 leukoplakia 9.6
1659 linear scleroderma 9.6
1660 macrophage activation syndrome 9.6
1661 mast cell activation syndrome 9.6
1662 polymyositis 9.6
1663 pseudo-turner syndrome 9.6
1664 punctate inner choroidopathy 9.6
1665 rud syndrome 9.6
1666 tuberculous uveitis 9.6
1667 age-related hearing loss 9.6
1668 dysphagia 9.6
1669 spinal cord injury 9.6
1670 isolated split hand-split foot malformation 9.6
1671 phacoanaphylactic uveitis 9.6
1672 specific language disorder 9.6
1673 acute sensory ataxic neuropathy 9.6
1674 qualitative or quantitative defects of alpha-dystroglycan 9.6
1675 glomerular disease 9.6
1676 atrial septal aneurysm 9.6
1677 intestinal polyposis syndrome 9.6
1678 precursor t-cell acute lymphoblastic leukemia 9.6
1679 microcephalic osteodysplastic primordial dwarfism, type i 9.6 SNRNP200 PRPF3
1680 aortic aneurysm, familial abdominal, 1 9.6
1681 aplasia cutis congenita, nonsyndromic 9.6
1682 branchiooculofacial syndrome 9.6
1683 burkitt lymphoma 9.6
1684 sotos syndrome 1 9.6
1685 alagille syndrome 1 9.6
1686 cryoglobulinemia, familial mixed 9.6
1687 duane retraction syndrome 1 9.6
1688 lymphoma, mucosa-associated lymphoid type 9.6
1689 hand skill, relative 9.6
1690 hashimoto thyroiditis 9.6
1691 hernia, hiatus 9.6
1692 heterochromia iridis 9.6
1693 hirschsprung disease 1 9.6
1694 ige responsiveness, atopic 9.6
1695 myelinated optic nerve fibers 9.6
1696 myelopathy, htlv-1-associated 9.6
1697 myoclonus and ataxia 9.6
1698 obsessive-compulsive disorder 9.6
1699 pernicious anemia 9.6
1700 platelet membrane fluidity 9.6
1701 polycystic kidney disease 1 with or without polycystic liver disease 9.6
1702 polydactyly, postaxial, type a1 9.6
1703 proteus syndrome 9.6
1704 pulmonary fibrosis, idiopathic 9.6
1705 blau syndrome 9.6
1706 suppressor of tumorigenicity 3 9.6
1707 albinism, oculocutaneous, type ia 9.6
1708 ceroid lipofuscinosis, neuronal, 2 9.6
1709 anemia, autoimmune hemolytic 9.6
1710 arterial calcification, generalized, of infancy, 1 9.6
1711 buerger disease 9.6
1712 boucher-neuhauser syndrome 9.6
1713 achromatopsia 2 9.6
1714 central cloudy dystrophy of francois 9.6
1715 cystinuria 9.6
1716 mitochondrial complex iv deficiency 9.6
1717 schopf-schulz-passarge syndrome 9.6
1718 factor vii deficiency 9.6
1719 friedreich ataxia 9.6
1720 glaucoma 3, primary congenital, a 9.6
1721 mowat-wilson syndrome 9.6
1722 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 9.6
1723 mannosidosis, alpha b, lysosomal 9.6
1724 megalocornea 9.6
1725 mitochondrial complex i deficiency, nuclear type 1 9.6
1726 myoclonic epilepsy of lafora 9.6
1727 hyper-igd syndrome 9.6
1728 d-bifunctional protein deficiency 9.6
1729 achromatopsia 3 9.6
1730 laron syndrome 9.6
1731 pulmonic stenosis 9.6
1732 glutathione synthetase deficiency 9.6
1733 ramon syndrome 9.6
1734 hemophagocytic lymphohistiocytosis, familial, 1 9.6
1735 adrenoleukodystrophy 9.6
1736 muscular dystrophy, becker type 9.6
1737 fragile x syndrome 9.6
1738 mcleod syndrome 9.6
1739 arts syndrome 9.6
1740 aarskog-scott syndrome 9.6
1741 focal dermal hypoplasia 9.6
1742 mitochondrial complex v deficiency, mitochondrial type 1 9.6
1743 ceroid lipofuscinosis, neuronal, 8 9.6
1744 budd-chiari syndrome 9.6
1745 mitochondrial complex v deficiency, nuclear type 1 9.6
1746 nephronophthisis 3 9.6
1747 langerhans cell histiocytosis 9.6
1748 spinocerebellar ataxia 14 9.6
1749 huntington disease-like 2 9.6
1750 lymphangioleiomyomatosis 9.6
1751 gastrointestinal stromal tumor 9.6
1752 anorexia nervosa 9.6
1753 bone mineral density quantitative trait locus 3 9.6
1754 deafness, autosomal recessive 31 9.6
1755 spastic paraplegia 7, autosomal recessive 9.6
1756 lissencephaly 1 9.6
1757 ovarian hyperstimulation syndrome 9.6
1758 kala-azar 1 9.6
1759 carney complex variant 9.6
1760 myopia 8 9.6
1761 myopia 10 9.6
1762 myopia 11, autosomal dominant 9.6
1763 myopia 14 9.6
1764 ceroid lipofuscinosis, neuronal, 7 9.6
1765 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 9.6
1766 myopia 15, autosomal dominant 9.6
1767 antithrombin iii deficiency 9.6
1768 fatty liver disease, nonalcoholic 1 9.6
1769 alpha-1-antitrypsin deficiency 9.6
1770 gastric cancer 9.6
1771 prothrombin deficiency, congenital 9.6
1772 short-rib thoracic dysplasia 4 with or without polydactyly 9.6
1773 beta-thalassemia 9.6
1774 ras-associated autoimmune leukoproliferative disorder 9.6
1775 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 9.6
1776 aortic valve disease 2 9.6
1777 hyperprolactinemia 9.6
1778 bardet-biedl syndrome 9 9.6
1779 patent ductus arteriosus 2 9.6
1780 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.6
1781 alkuraya-kucinskas syndrome 9.6
1782 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.6
1783 angina pectoris 9.6
1784 sydenham chorea 9.6
1785 rocky mountain spotted fever 9.6
1786 weill-marchesani syndrome 9.6
1787 epidemic typhus 9.6
1788 hereditary sensory neuropathy 9.6
1789 tooth agenesis 9.6
1790 abdominal tuberculosis 9.6
1791 aicardi-goutieres syndrome 9.6
1792 renal fibrosis 9.6
1793 pervasive developmental disorder 9.6
1794 brain meningioma 9.6
1795 cogan syndrome 9.6
1796 crest syndrome 9.6
1797 cold-induced sweating syndrome 9.6
1798 autosomal recessive non-syndromic intellectual disability 9.6
1799 myelomeningocele 9.6
1800 bacillary angiomatosis 9.6
1801 lymphoproliferative syndrome 9.6
1802 primary autosomal recessive microcephaly 9.6
1803 primary microcephaly 9.6
1804 x-linked recessive disease 9.6
1805 hypogonadotropic hypogonadism 9.6
1806 castleman disease 9.6
1807 xerophthalmia 9.6
1808 osteomyelitis 9.6
1809 cholelithiasis 9.6
1810 pleurisy 9.6
1811 tuberculoid leprosy 9.6
1812 mumps 9.6
1813 chronic meningitis 9.6
1814 chronic leukemia 9.6
1815 prolymphocytic leukemia 9.6
1816 fanconi syndrome 9.6
1817 primary optic atrophy 9.6
1818 giardiasis 9.6
1819 japanese encephalitis 9.6
1820 hand, foot and mouth disease 9.6
1821 amnestic disorder 9.6
1822 lipoid nephrosis 9.6
1823 brucellosis 9.6
1824 hydronephrosis 9.6
1825 enophthalmos 9.6
1826 esophageal varix 9.6
1827 primary hyperparathyroidism 9.6
1828 erysipelas 9.6
1829 pyelonephritis 9.6
1830 hypertensive heart disease 9.6
1831 nephrosclerosis 9.6
1832 prediabetes syndrome 9.6
1833 synostosis 9.6
1834 bullous retinoschisis 9.6
1835 goiter 9.6
1836 corneal degeneration 9.6
1837 spinal muscular atrophy 9.6
1838 blood coagulation disease 9.6
1839 bell's palsy 9.6
1840 hepatitis a 9.6
1841 duane retraction syndrome 9.6
1842 phacolytic glaucoma 9.6
1843 locked-in syndrome 9.6
1844 cerebral atherosclerosis 9.6
1845 dilated cardiomyopathy 9.6
1846 plasmodium vivax malaria 9.6
1847 subclavian steal syndrome 9.6
1848 traumatic glaucoma 9.6
1849 brain cancer 9.6
1850 porphyria 9.6
1851 neurosarcoidosis 9.6
1852 loiasis 9.6
1853 hyperparathyroidism 9.6
1854 interval angle-closure glaucoma 9.6
1855 biliary atresia 9.6
1856 equatorial staphyloma 9.6
1857 staphyloma posticum 9.6
1858 squamous cell papilloma 9.6
1859 plasmodium falciparum malaria 9.6
1860 renal tubular acidosis 9.6
1861 adult-onset still's disease 9.6
1862 niemann-pick disease 9.6
1863 lymphangioma 9.6
1864 urticaria 9.6
1865 angioedema 9.6
1866 ectropion 9.6
1867 rheumatic fever 9.6
1868 endogenous depression 9.6
1869 keratosis 9.6
1870 melanotic neuroectodermal tumor 9.6
1871 pineoblastoma 9.6
1872 pneumothorax 9.6
1873 neuroendocrine tumor 9.6
1874 pericarditis 9.6
1875 status epilepticus 9.6
1876 viral hepatitis 9.6
1877 dysostosis 9.6
1878 cholecystitis 9.6
1879 cerebral palsy 9.6
1880 hyperostosis 9.6
1881 focal epilepsy 9.6
1882 hepatitis 9.6
1883 colon adenocarcinoma 9.6
1884 macrocytic anemia 9.6
1885 neuroaxonal dystrophy 9.6
1886 neonatal jaundice 9.6
1887 wernicke encephalopathy 9.6
1888 basal cell carcinoma 9.6
1889 orchitis 9.6
1890 granulomatous angiitis 9.6
1891 papilloma 9.6
1892 phimosis 9.6
1893 epidermolysis bullosa 9.6
1894 perinephritis 9.6
1895 tropical spastic paraparesis 9.6
1896 choriocarcinoma 9.6
1897 empty sella syndrome 9.6
1898 arthropathy 9.6
1899 merkel cell carcinoma 9.6
1900 angioma serpiginosum 9.6
1901 mouth disease 9.6
1902 pseudohypoparathyroidism 9.6
1903 coronary stenosis 9.6
1904 uremia 9.6
1905 movement disease 9.6
1906 benign ependymoma 9.6
1907 essential tremor 9.6
1908 aortic disease 9.6
1909 chronic polyneuropathy 9.6
1910 intestinal disease 9.6
1911 pituitary gland disease 9.6
1912 schizoaffective disorder 9.6
1913 cellular ependymoma 9.6
1914 mitral valve disease 9.6
1915 acute disseminated encephalomyelitis 9.6
1916 malignant ciliary body melanoma 9.6
1917 cerebral angioma 9.6
1918 thyroiditis 9.6
1919 anthrax disease 9.6
1920 peptic ulcer disease 9.6
1921 myocarditis 9.6
1922 periodontitis 9.6
1923 osteoarthritis 9.6
1924 kidney angiomyolipoma 9.6
1925 corneal ulcer 9.6
1926 bullous pemphigoid 9.6
1927 monocytic leukemia 9.6
1928 pyoderma gangrenosum 9.6
1929 evans' syndrome 9.6
1930 sideroblastic anemia 9.6
1931 peroxisomal disease 9.6
1932 leishmaniasis 9.6
1933 visceral leishmaniasis 9.6
1934 waardenburg's syndrome 9.6
1935 orbital disease 9.6
1936 cholangitis 9.6
1937 exposure keratitis 9.6
1938 latent syphilis 9.6
1939 fasciitis 9.6
1940 necrotizing fasciitis 9.6
1941 alternating esotropia 9.6
1942 meibomian cyst 9.6
1943 dacryocystitis 9.6
1944 col4a1-related disorders 9.6
1945 cerebral cavernous malformation, familial 9.6
1946 creatine deficiency syndromes 9.6
1947 disorders of intracellular cobalamin metabolism 9.6
1948 mitochondrial dna-associated leigh syndrome and narp 9.6
1949 polymicrogyria 9.6
1950 progressive myoclonus epilepsy, lafora type 9.6
1951 prothrombin-related thrombophilia 9.6
1952 acute graft versus host disease 9.6
1953 adrenomyeloneuropathy 9.6
1954 adult neuronal ceroid lipofuscinosis 9.6
1955 congenital hydrocephalus 9.6
1956 congenital zika syndrome 9.6
1957 cryofibrinogenemia 9.6
1958 cytomegalic inclusion disease 9.6
1959 deafness enamel hypoplasia nail defects 9.6
1960 glaucoma, hereditary 9.6
1961 hemiplegic migraine 9.6
1962 heparin-induced thrombocytopenia 9.6
1963 homologous wasting disease 9.6
1964 htlv-1 associated myelopathy/tropical spastic paraparesis 9.6
1965 human t-cell leukemia virus type 1 9.6
1966 iridocorneal endothelial syndrome 9.6
1967 lymphomatoid granulomatosis 9.6
1968 mitral valve prolapse, familial, x-linked 9.6
1969 mycobacterium avium complex infections 9.6
1970 neonatal adrenoleukodystrophy 9.6
1971 phacomatosis pigmentovascularis 9.6
1972 t-cell prolymphocytic leukemia 9.6
1973 tuberculous meningitis 9.6
1974 isolated duane retraction syndrome 9.6
1975 back pain 9.6
1976 cerebral beriberi 9.6
1977 dementia - subcortical 9.6
1978 fainting 9.6
1979 foot drop 9.6
1980 myotonia 9.6
1981 spinocerebellar atrophy 9.6
1982 spinocerebellar degeneration 9.6
1983 angioosteohypertrophic syndrome 9.6
1984 cleft lip/palate 9.6
1985 rare neurodegenerative disease 9.6
1986 neurotrophic keratopathy 9.6
1987 occipital encephalocele 9.6
1988 spasmus nutans 9.6
1989 rare lymphatic malformation 9.6
1990 idiopathic posterior uveitis 9.6
1991 congenital amyoplasia 9.6
1992 posterior cortical atrophy 9.6
1993 non-infectious posterior uveitis 9.6
1994 discoid lupus erythematosus 9.6
1995 renal dysplasia 9.6
1996 lymphedema 9.6
1997 polyploidy 9.6
1998 essential iris atrophy 9.6
1999 accessory mitral valve tissue 9.6
2000 rickettsial disease 9.6
2001 thyroid carcinoma 9.6
2002 abducens palsy 9.4
2003 acanthosis nigricans 9.4
2004 adult syndrome 9.4
2005 pseudohypoparathyroidism, type ia 9.4
2006 gastroesophageal reflux 9.4
2007 basal cell nevus syndrome 9.4
2008 blood group--kell system 9.4
2009 brachydactyly-nystagmus-cerebellar ataxia 9.4
2010 cafe-au-lait spots, multiple 9.4
2011 hepatocellular carcinoma 9.4
2012 candidiasis, familial, 1 9.4
2013 cardiac conduction defect 9.4
2014 cardiofaciocutaneous syndrome 1 9.4
2015 catatrichy 9.4
2016 klippel-feil syndrome 1, autosomal dominant 9.4
2017 cherubism 9.4
2018 chondronectin 9.4
2019 seizures, benign familial neonatal, 1 9.4
2020 corneal dystrophy, posterior polymorphous, 1 9.4
2021 craniofacial-deafness-hand syndrome 9.4
2022 crouzon syndrome 9.4
2023 darier-white disease 9.4
2024 diabetes insipidus, nephrogenic, autosomal 9.4
2025 distichiasis 9.4
2026 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.4
2027 ehlers-danlos syndrome, classic type, 1 9.4
2028 elliptocytosis 2 9.4
2029 spinocerebellar ataxia 34 9.4
2030 exostoses, multiple, type i 9.4
2031 hemifacial hyperplasia 9.4
2032 zimmermann-laband syndrome 1 9.4
2033 coffin-siris syndrome 1 9.4
2034 corneal dystrophy, fuchs endothelial, 1 9.4
2035 gilles de la tourette syndrome 9.4
2036 myhre syndrome 9.4
2037 migraine, familial hemiplegic, 1 9.4
2038 hpa i recognition polymorphism, beta-globin-related 9.4
2039 hyperhidrosis, gustatory 9.4
2040 hyperlipidemia, familial combined, 3 9.4
2041 intussusception 9.4
2042 jacobsen syndrome 9.4
2043 kabuki syndrome 1 9.4
2044 keratoconus 1 9.4
2045 lipomatosis, multiple 9.4
2046 treacher collins syndrome 1 9.4
2047 marshall syndrome 9.4
2048 melkersson-rosenthal syndrome 9.4
2049 nondisjunction 9.4
2050 motion sickness 9.4
2051 cowden syndrome 1 9.4
2052 myopathy, tubular aggregate, 1 9.4
2053 myopia 2, autosomal dominant 9.4
2054 myotonic dystrophy 1 9.4
2055 oculopharyngeal muscular dystrophy 9.4
2056 ovalocytosis, southeast asian 9.4
2057 teratoma, ovarian 9.4
2058 pemphigus vulgaris, familial 9.4
2059 peripheral dysostosis 9.4
2060 pick disease of brain 9.4
2061 platelet groups--ko system 9.4
2062 pneumothorax, primary spontaneous 9.4
2063 polycystic liver disease 1 with or without kidney cysts 9.4
2064 mccune-albright syndrome 9.4
2065 peutz-jeghers syndrome 9.4
2066 porphyria, acute intermittent 9.4
2067 porphyria cutanea tarda 9.4
2068 progeroid short stature with pigmented nevi 9.4
2069 pseudoachondroplasia 9.4
2070 psoriasis 1 9.4
2071 pulmonary hemosiderosis 9.4
2072 raynaud disease 9.4
2073 schizophrenia 1 9.4
2074 small cell cancer of the lung 9.4
2075 spastic paraplegia 4, autosomal dominant 9.4
2076 spinocerebellar ataxia 6 9.4
2077 odontochondrodysplasia 9.4
2078 stiff-person syndrome 9.4
2079 storm syndrome 9.4
2080 telangiectasia, hereditary hemorrhagic, type 1 9.4
2081 telecanthus 9.4
2082 tobacco addiction 9.4
2083 trigeminal neuralgia 9.4
2084 renal hypodysplasia/aplasia 1 9.4
2085 vesicoureteral reflux 1 9.4
2086 waardenburg syndrome, type 1 9.4
2087 whim syndrome 9.4
2088 williams-beuren syndrome 9.4
2089 wilms tumor 1 9.4
2090 lipoid congenital adrenal hyperplasia 9.4
2091 amelogenesis imperfecta, hypomaturation type, iia1 9.4
2092 anemia, hypochromic microcytic, with iron overload 1 9.4
2093 anencephaly 9.4
2094 anus, imperforate 9.4
2095 arachnoid cysts, intracranial 9.4
2096 australia antigen 9.4
2097 c syndrome 9.4
2098 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 9.4
2099 chondrodysplasia punctata syndrome 9.4
2100 conotruncal heart malformations 9.4
2101 macular dystrophy, corneal 9.4
2102 corpus callosum, agenesis of 9.4
2103 costello syndrome 9.4
2104 crigler-najjar syndrome, type i 9.4
2105 cystathioninuria 9.4
2106 cystinosis, nephropathic 9.4
2107 dandy-walker syndrome 9.4
2108 dermochondrocorneal dystrophy 9.4
2109 anemia, congenital dyserythropoietic, type ia 9.4
2110 enterocolitis 9.4
2111 gastroschisis 9.4
2112 hemochromatosis, neonatal 9.4
2113 glycogen storage disease ia 9.4
2114 glycogen storage disease ii 9.4
2115 hemihyperplasia, isolated 9.4
2116 homocarnosinosis 9.4
2117 hooft disease 9.4
2118 hutterite cerebroosteonephrodysplasia syndrome 9.4
2119 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.4
2120 hyperprolinemia, type i 9.4
2121 cantu syndrome 9.4
2122 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.4
2123 vici syndrome 9.4
2124 cholestasis, benign recurrent intrahepatic, 1 9.4
2125 donohue syndrome 9.4
2126 letterer-siwe disease 9.4
2127 miller-dieker lissencephaly syndrome 9.4
2128 maple syrup urine disease 9.4
2129 megalocornea-mental retardation syndrome 9.4
2130 3-methylglutaconic aciduria, type i 9.4
2131 microcephaly with chemotactic defect and transient hypogammaglobulinemia 9.4
2132 microcephaly and chorioretinopathy, autosomal recessive, 1 9.4
2133 mucopolysaccharidosis, type iiib 9.4
2134 mucopolysaccharidosis, type iiic 9.4
2135 mycosis fungoides 9.4
2136 neurodegeneration with brain iron accumulation 2a 9.4
2137 ceroid lipofuscinosis, neuronal, 5 9.4
2138 oliver syndrome 9.4
2139 osteogenesis imperfecta, type iii 9.4
2140 chronic recurrent multifocal osteomyelitis 9.4
2141 osteopetrosis, autosomal recessive 1 9.4
2142 persistent mullerian duct syndrome, types i and ii 9.4
2143 phenylketonuria 9.4
2144 pierre robin syndrome 9.4
2145 abnormal hair, joint laxity, and developmental delay 9.4
2146 isolated growth hormone deficiency, type ia 9.4
2147 short-rib thoracic dysplasia 6 with or without polydactyly 9.4
2148 rheumatic fever-related antigen 9.4
2149 senile plaque formation 9.4
2150 short stature-obesity syndrome 9.4
2151 canavan disease 9.4
2152 multiple sulfatase deficiency 9.4
2153 crisponi/cold-induced sweating syndrome 1 9.4
2154 tay-sachs disease 9.4
2155 graves disease 1 9.4
2156 hypothyroidism, congenital, nongoitrous, 4 9.4
2157 transcobalamin ii deficiency 9.4
2158 mismatch repair cancer syndrome 9.4
2159 methylmalonic aciduria and homocystinuria, cblc type 9.4
2160 xeroderma pigmentosum, variant type 9.4
2161 cone-rod dystrophy, x-linked, 2 9.4
2162 simpson-golabi-behmel syndrome, type 2 9.4
2163 severe combined immunodeficiency, x-linked 9.4
2164 autism x-linked 2 9.4
2165 myopia 13, x-linked 9.4
2166 mental retardation and microcephaly with pontine and cerebellar hypoplasia 9.4
2167 sarcoma, synovial 9.4
2168 mental retardation, x-linked 92 9.4
2169 meester-loeys syndrome 9.4
2170 wiskott-aldrich syndrome 9.4
2171 alpha-thalassemia/mental retardation syndrome, x-linked 9.4
2172 nance-horan syndrome 9.4
2173 spermatogenic failure, x-linked, 1 9.4
2174 granulomatous disease, chronic, x-linked 9.4
2175 optic atrophy 2 9.4
2176 charcot-marie-tooth disease, x-linked recessive, 5 9.4
2177 pelizaeus-merzbacher disease 9.4
2178 reticuloendotheliosis, x-linked 9.4
2179 cyclic vomiting syndrome 9.4
2180 myoclonic epilepsy associated with ragged-red fibers 9.4
2181 pearson marrow-pancreas syndrome 9.4
2182 deafness, autosomal recessive 2 9.4
2183 nanophthalmos 1 9.4
2184 helicobacter pylori infection 9.4
2185 deafness, autosomal dominant 11 9.4
2186 deafness, autosomal recessive 12 9.4
2187 patent ductus venosus 9.4
2188 stuve-wiedemann syndrome 9.4
2189 systemic lupus erythematosus 1 9.4
2190 pallister-killian syndrome 9.4
2191 autoimmune lymphoproliferative syndrome 9.4
2192 fibrosis of extraocular muscles, congenital, 2 9.4
2193 hemochromatosis, type 2a 9.4
2194 desmosterolosis 9.4
2195 neuronal intranuclear inclusion disease 9.4
2196 light fixation seizure syndrome 9.4
2197 craniosynostosis with ectopia lentis 9.4
2198 deafness, autosomal recessive 16 9.4
2199 ventricular fibrillation, paroxysmal familial, 1 9.4
2200 reflex sympathetic dystrophy 9.4
2201 spastic paraplegia 11, autosomal recessive 9.4
2202 microcephaly 3, primary, autosomal recessive 9.4
2203 bohring-opitz syndrome 9.4
2204 paragangliomas 3 9.4
2205 cone-rod dystrophy 8 9.4
2206 abdominal obesity-metabolic syndrome 1 9.4
2207 cataract 25 9.4
2208 dermatitis, atopic, 5 9.4
2209 phace association 9.4