APAO
MCID: ATX038
MIFTS: 45

Ataxia and Polyneuropathy, Adult-Onset (APAO)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Ataxia and Polyneuropathy, Adult-Onset

MalaCards integrated aliases for Ataxia and Polyneuropathy, Adult-Onset:

Name: Ataxia and Polyneuropathy, Adult-Onset 56 73 6
Adult-Onset Ataxia and Polyneuropathy 12 15
Ataxia 43 39
Apao 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0111750
OMIM 56 500010
ICD10 32 R27.0
MedGen 41 C1838916

Summaries for Ataxia and Polyneuropathy, Adult-Onset

Disease Ontology : 12 A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has material basis in heteroplasmic mutation in the mitochondrial gene MTATP6.

MalaCards based summary : Ataxia and Polyneuropathy, Adult-Onset, also known as adult-onset ataxia and polyneuropathy, is related to friedreich ataxia and ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia. An important gene associated with Ataxia and Polyneuropathy, Adult-Onset is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6). The drugs Estradiol and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cerebellum.

UniProtKB/Swiss-Prot : 73 Ataxia and polyneuropathy, adult-onset: A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria.

More information from OMIM: 500010

Related Diseases for Ataxia and Polyneuropathy, Adult-Onset

Diseases related to Ataxia and Polyneuropathy, Adult-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2102, show less)
# Related Disease Score Top Affiliating Genes
1 friedreich ataxia 12.8
2 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.8
3 ataxia-telangiectasia 12.7
4 spastic ataxia, charlevoix-saguenay type 12.7
5 episodic ataxia, type 2 12.7
6 autosomal dominant cerebellar ataxia 12.7
7 spinocerebellar ataxia 2 12.7
8 spinocerebellar ataxia 1 12.7
9 spinocerebellar ataxia, autosomal recessive 8 12.6
10 spinocerebellar ataxia 7 12.6
11 spinocerebellar ataxia 29 12.6
12 spinocerebellar ataxia 34 12.6
13 spinocerebellar ataxia 6 12.6
14 episodic ataxia, type 1 12.6
15 spinocerebellar ataxia 15 12.6
16 spinocerebellar ataxia 36 12.6
17 spinocerebellar ataxia 31 12.6
18 anemia, sideroblastic, and spinocerebellar ataxia 12.6
19 spinocerebellar ataxia 10 12.6
20 spinocerebellar ataxia, autosomal recessive 4 12.6
21 spinocerebellar ataxia 13 12.6
22 spinocerebellar ataxia 27 12.6
23 spinocerebellar ataxia 20 12.6
24 spinocerebellar ataxia 26 12.6
25 spinocerebellar ataxia 17 12.6
26 hereditary ataxia 12.6
27 spinocerebellar ataxia 21 12.6
28 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.6
29 spinocerebellar ataxia 14 12.6
30 spinocerebellar ataxia 23 12.6
31 spinocerebellar ataxia 12 12.6
32 spinocerebellar ataxia 28 12.6
33 spinocerebellar ataxia, autosomal recessive 7 12.6
34 spinocerebellar ataxia 8 12.6
35 spinocerebellar ataxia, autosomal recessive 14 12.6
36 spinocerebellar ataxia 11 12.6
37 spinocerebellar ataxia, autosomal recessive 3 12.6
38 spinocerebellar ataxia 5 12.5
39 posterior column ataxia with retinitis pigmentosa 12.5
40 spinocerebellar ataxia 38 12.5
41 cerebellar ataxia, early-onset, with retained tendon reflexes 12.5
42 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 12.5
43 spinocerebellar ataxia, x-linked 1 12.5
44 cerebellar ataxia, nonprogressive, with mental retardation 12.5
45 spinocerebellar ataxia 18 12.5
46 spinocerebellar ataxia 4 12.5
47 cerebellar ataxia, cayman type 12.5
48 episodic ataxia 12.5
49 spinocerebellar ataxia, autosomal recessive 10 12.5
50 spinocerebellar ataxia, autosomal recessive 12 12.5
51 spinocerebellar ataxia, autosomal recessive 13 12.5
52 spinocerebellar ataxia, autosomal recessive 16 12.5
53 spinocerebellar ataxia 37 12.5
54 spinocerebellar ataxia 35 12.5
55 spastic ataxia 12.5
56 spinocerebellar ataxia, autosomal recessive 23 12.5
57 spinocerebellar ataxia 25 12.5
58 spinocerebellar ataxia 40 12.5
59 spinocerebellar ataxia, autosomal recessive 15 12.5
60 spinocerebellar ataxia, x-linked 3 12.5
61 spinocerebellar ataxia, autosomal recessive 6 12.5
62 fragile x tremor/ataxia syndrome 12.5
63 spastic ataxia 4, autosomal recessive 12.5
64 spinocerebellar ataxia, autosomal recessive 2 12.5
65 spinocerebellar ataxia, autosomal recessive 17 12.5
66 spinocerebellar ataxia, autosomal recessive 18 12.5
67 spinocerebellar ataxia, x-linked 4 12.5
68 neuropathy, ataxia, and retinitis pigmentosa 12.5
69 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 12.5
70 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 12.5
71 episodic ataxia, type 5 12.5
72 spastic ataxia 1, autosomal dominant 12.5
73 spinocerebellar ataxia, autosomal recessive 11 12.5
74 spastic ataxia 5, autosomal recessive 12.5
75 episodic ataxia, type 6 12.5
76 spinocerebellar ataxia 19 12.5
77 spastic ataxia 2, autosomal recessive 12.5
78 spastic ataxia 3, autosomal recessive 12.5
79 spinocerebellar ataxia type 1 with axonal neuropathy 12.5
80 ataxia with vitamin e deficiency 12.5
81 ataxia-pancytopenia syndrome 12.5
82 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.4
83 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 12.4
84 ataxia-telangiectasia-like disorder 1 12.4
85 ataxia-oculomotor apraxia 3 12.4
86 episodic ataxia, type 4 12.4
87 spinocerebellar ataxia 42 12.4
88 spinocerebellar ataxia, autosomal recessive 21 12.4
89 spinocerebellar ataxia 41 12.4
90 episodic ataxia, type 3 12.4
91 cataract-ataxia-deafness-retardation syndrome 12.4
92 cerebellar ataxia and ectodermal dysplasia 12.4
93 spinocerebellar ataxia 30 12.4
94 ataxia-oculomotor apraxia 4 12.4
95 spinocerebellar ataxia, x-linked 5 12.4
96 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 12.4
97 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 12.4
98 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 12.4
99 spinocerebellar ataxia 32 12.4
100 fragile x-associated tremor/ataxia syndrome 12.4
101 prickle1-related progressive myoclonus epilepsy with ataxia 12.4
102 ataxia neuropathy spectrum 12.4
103 ataxia-deafness-retardation syndrome 12.4
104 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 12.4
105 episodic ataxia, type 7 12.4
106 spinocerebellar ataxia, autosomal recessive 20 12.4
107 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 12.4
108 myoclonus, cerebellar ataxia, and deafness 12.4
109 episodic ataxia, type 8 12.4
110 mitochondrial dna depletion syndrome 7 12.4
111 friedreich ataxia 2 12.4
112 leukoencephalopathy with ataxia 12.4
113 spinocerebellar ataxia, autosomal recessive 24 12.4
114 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 12.4
115 machado-joseph disease 12.4
116 hypotonia, ataxia, and delayed development syndrome 12.4
117 ataxia-telangiectasia-like disorder 2 12.4
118 ataxia, sensory, 1, autosomal dominant 12.4
119 spinocerebellar ataxia 48 12.4
120 spinocerebellar ataxia with dysmorphism 12.4
121 spinocerebellar ataxia, autosomal recessive 27 12.4
122 spinocerebellar ataxia, autosomal recessive 22 12.4
123 spinocerebellar ataxia type 19/22 12.4
124 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 12.4
125 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 12.3
126 spinocerebellar ataxia, autosomal recessive 25 12.3
127 spinocerebellar ataxia, autosomal recessive 26 12.3
128 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.3
129 spinocerebellar ataxia 46 12.3
130 spinocerebellar ataxia, x-linked 2 12.3
131 cognitive impairment with or without cerebellar ataxia 12.3
132 gordon holmes syndrome 12.3
133 spinocerebellar ataxia 44 12.3
134 spinocerebellar ataxia 45 12.3
135 spinocerebellar ataxia 43 12.3
136 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 12.3
137 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 12.3
138 spinocerebellar ataxia 47 12.3
139 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 12.3
140 x-linked cerebellar ataxia 12.3
141 boucher-neuhauser syndrome 12.3
142 autosomal recessive cerebellar ataxia 12.3
143 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia 12.3
144 myopathy, mitochondrial, and ataxia 12.3
145 spastic ataxia 9, autosomal recessive 12.3
146 gillespie syndrome 12.3
147 global developmental delay, progressive ataxia, and elevated glutamine 12.3
148 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 12.3
149 intellectual developmental disorder with or without epilepsy or cerebellar ataxia 12.3
150 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 12.3
151 vitamin e, familial isolated deficiency of 12.3
152 cerebellar ataxia type 47 12.3
153 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 12.2
154 spastic ataxia 7, autosomal dominant 12.2
155 cerebellar ataxia type 48 12.2
156 intellectual developmental disorder with poor growth and with or without seizures or ataxia 12.2
157 spastic ataxia 2 12.2
158 spastic ataxia 5 12.2
159 cerebellar ataxia type 43 12.2
160 coenzyme q10 deficiency, primary, 4 12.2
161 myoclonic epilepsy myopathy sensory ataxia 12.2
162 brachydactyly-nystagmus-cerebellar ataxia 12.2
163 optic atrophy 10 with or without ataxia, mental retardation, and seizures 12.2
164 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 12.2
165 ataxias and cerebellar or spinocerebellar degeneration 12.2
166 cerebellar ataxia type 42 12.2
167 spinocerebellar ataxia, autosomal recessive 28 12.2
168 x-linked hereditary ataxia 12.2
169 nijmegen breakage syndrome 12.2
170 autosomal recessive spastic ataxia 12.2
171 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 12.2
172 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation 12.2
173 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.2
174 neurodevelopmental disorder with microcephaly, ataxia, and seizures 12.2
175 spastic ataxia 3 12.2
176 spastic ataxia 4 12.2
177 cerebellar ataxia type 9 12.2
178 autosomal dominant cerebellar ataxia type i 12.2
179 autosomal dominant cerebellar ataxia type iii 12.2
180 spinocerebellar ataxia autosomal recessive 5 12.1
181 posterior column ataxia 12.1
182 lichtenstein-knorr syndrome 12.1
183 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 12.1
184 cerebellar ataxia type 41 12.1
185 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 12.1
186 hereditary episodic ataxia 12.1
187 spastic ataxia 1 12.1
188 spastic ataxia 7 12.1
189 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 12.1
190 spinocerebellar ataxia 9 12.1
191 cerebellar ataxia with peripheral neuropathy 12.1
192 dentatorubral-pallidoluysian atrophy 12.1
193 cataract, ataxia, short stature, and mental retardation 12.1
194 grid2-related spinocerebellar ataxia 12.1
195 arts syndrome 12.1
196 myoclonus and ataxia 12.0
197 leukoencephalopathy with vanishing white matter 12.0
198 sporadic adult-onset ataxia of unknown etiology 12.0
199 autosomal recessive cerebellar ataxia with late-onset spasticity 12.0
200 autosomal dominant cerebellar ataxia type iv 12.0
201 cerebellar ataxia and hypergonadotropic hypogonadism 12.0
202 paroxysmal tonic upgaze, benign childhood, with ataxia 12.0
203 ataxia-microcephaly-cataract syndrome 12.0
204 friedreich ataxia and congenital glaucoma 12.0
205 cerebellar ataxia, benign, with thermoanalgesia 12.0
206 spastic paraplegia, ataxia, and mental retardation 12.0
207 spastic ataxia 8 12.0
208 renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna 12.0
209 richards-rundle syndrome 12.0
210 aceruloplasminemia 12.0
211 3-methylglutaconic aciduria, type v 12.0
212 autosomal recessive ataxia due to pex10 deficiency 12.0
213 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 12.0
214 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome 12.0
215 autosomal recessive cerebellar ataxia due to a dna repair defect 12.0
216 autosomal dominant spastic ataxia 12.0
217 samd9l-related ataxia-pancytopenia syndrome 12.0
218 acquired ataxia 12.0
219 coach syndrome 12.0
220 childhood ataxia with central nervous system hypomyelination / vanishing white matter 12.0
221 rare ataxia 12.0
222 polr3-related leukodystrophy 12.0
223 branchial myoclonus with spastic paraparesis and cerebellar ataxia 12.0
224 autosomal recessive congenital cerebellar ataxia 12.0
225 rare hereditary ataxia 12.0
226 ataxia with dementia 12.0
227 ataxia with fasciculations 12.0
228 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness 12.0
229 spinocerebellar ataxia with rigidity and peripheral neuropathy 12.0
230 tremor of intention, ataxia, and lipofuscinosis 12.0
231 ataxia with myoclonic epilepsy and presenile dementia 12.0
232 ataxia, deafness, and cardiomyopathy 12.0
233 ataxia-telangiectasia with generalized skin pigmentation and early death 12.0
234 cerebellar ataxia and neurosensory deafness 12.0
235 cholestasis with gallstone, ataxia, and visual disturbance 12.0
236 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain 12.0
237 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 12.0
238 renal tubulopathy, diabetes mellitus, and cerebellar ataxia 12.0
239 laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy 12.0
240 gait ataxia with late onset polyneuropathy syndrome 12.0
241 short-rib thoracic dysplasia 9 with or without polydactyly 12.0
242 spinocerebellar degeneration 12.0
243 gerstmann-straussler disease 11.9
244 pyruvate dehydrogenase e1-alpha deficiency 11.9
245 myoclonic cerebellar dyssynergia 11.9
246 mitochondrial complex v deficiency, mitochondrial type 1 11.9
247 spinocerebellar atrophy 11.9
248 tapetoretinal degeneration with ataxia 11.9
249 progressive locomotor ataxia 11.9
250 olivopontocerebellar atrophy 11.9
251 dystonia 9 11.9
252 opsoclonus-myoclonus syndrome 11.9
253 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined 11.8
254 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 11.8
255 ataxia-photosensitivity-short stature syndrome 11.8
256 non-hereditary degenerative ataxia 11.8
257 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 11.8
258 epilepsy and/or ataxia with myoclonus as a major feature 11.8
259 non progressive epilepsy and/or ataxia with myoclonus as a major feature 11.8
260 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 11.8
261 spastic ataxia-dysarthria due to glutaminase deficiency 11.8
262 x-linked intellectual disability-ataxia-apraxia syndrome 11.8
263 congenital cerebellar ataxia due to rnu12 mutation 11.8
264 autosomal recessive degenerative and progressive cerebellar ataxia 11.8
265 autosomal recessive syndromic cerebellar ataxia 11.8
266 autosomal recessive metabolic cerebellar ataxia 11.8
267 late-onset ataxia with dementia 11.8
268 early-onset ataxia with dementia 11.8
269 christianson syndrome 11.8
270 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.8
271 cerebral amyloid angiopathy, itm2b-related, 2 11.8
272 galloway-mowat syndrome 1 11.8
273 migraine, familial hemiplegic, 1 11.8
274 polymicrogyria, bilateral frontoparietal 11.8
275 rett syndrome 11.8
276 cerebral amyloid angiopathy, itm2b-related, 1 11.8
277 myasthenic syndrome, congenital, 18 11.8
278 behr syndrome 11.8
279 poretti-boltshauser syndrome 11.8
280 clcn2-related leukoencephalopathy 11.7
281 bangstad syndrome 11.7
282 marinesco-sjogren syndrome 11.7
283 mental retardation, x-linked, syndromic, christianson type 11.7
284 epilepsy, progressive myoclonic, 6 11.7
285 epilepsy, progressive myoclonic, 1b 11.6
286 multiple system atrophy 1 11.6
287 gemignani syndrome 11.6
288 progressive myoclonus epilepsy 6 11.6
289 hereditary spastic paraplegia 11.5
290 kearns-sayre syndrome 11.5
291 spastic paraplegia 79, autosomal recessive 11.5
292 succinic semialdehyde dehydrogenase deficiency 11.5
293 refsum disease, classic 11.5
294 spastic paraplegia 35, autosomal recessive 11.5
295 roussy-levy hereditary areflexic dystasia 11.4
296 leigh syndrome 11.4
297 joubert syndrome 1 11.4
298 familial hemiplegic migraine 11.4
299 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.4
300 flynn-aird syndrome 11.4
301 karak syndrome 11.4
302 cerebellar degeneration 11.4
303 angelman syndrome 11.4
304 glucose transporter type 1 deficiency syndrome 11.4
305 coenzyme q10 deficiency, primary, 1 11.4
306 ceroid lipofuscinosis, neuronal, 2 11.4
307 myoclonic epilepsy associated with ragged-red fibers 11.4
308 neuronal intranuclear inclusion disease 11.4
309 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 11.4
310 hartnup disorder 11.4
311 galactosialidosis 11.4
312 mevalonic aciduria 11.4
313 guillain-barre syndrome 11.4
314 cerebellar hypoplasia 11.4
315 mitochondrial complex iii deficiency, nuclear type 2 11.4
316 vps13d movement disorder 11.3
317 chronic progressive external ophthalmoplegia 11.3
318 cerebellar disease 11.3
319 spastic paraplegia 2, x-linked 11.3
320 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 11.3
321 unverricht-lundborg syndrome 11.3
322 3-methylglutaconic aciduria, type iii 11.3
323 spastic paraplegia 3, autosomal dominant 11.3
324 myoclonic epilepsy of unverricht and lundborg 11.3
325 niemann-pick disease 11.3
326 biotinidase deficiency 11.3
327 ceroid lipofuscinosis, neuronal, 6 11.3
328 wernicke-korsakoff syndrome 11.3
329 ocular motor apraxia 11.3
330 l-2-hydroxyglutaric aciduria 11.3
331 mannosidosis, alpha b, lysosomal 11.3
332 leukodystrophy, hypomyelinating, 2 11.3
333 thiamine metabolism dysfunction syndrome 5 11.3
334 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 11.3
335 miller fisher syndrome 11.3
336 coenzyme q10 deficiency disease 11.3
337 movement disease 11.3
338 cerebral palsy 11.3
339 alexander disease 11.3
340 pyruvate carboxylase deficiency 11.3
341 wernicke encephalopathy 11.2
342 medulloblastoma 11.2
343 niemann-pick disease, type c1 11.2
344 tabes dorsalis 11.2
345 optic atrophy 1 11.2
346 machado-joseph disease type 1 11.2
347 machado-joseph disease type 3 11.2
348 machado-joseph disease type 2 11.2
349 mitochondrial dna depletion syndrome 11.2
350 hypertrophic neuropathy of dejerine-sottas 11.2
351 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.2
352 oliver-mcfarlane syndrome 11.2
353 joubert syndrome 17 11.2
354 cerebellar atrophy with seizures and variable developmental delay 11.2
355 optic atrophy 3, autosomal dominant 11.2
356 dandy-walker syndrome 11.2
357 3-methylglutaconic aciduria, type i 11.2
358 ceroid lipofuscinosis, neuronal, 5 11.2
359 revesz syndrome 11.2
360 tyrosinemia, type iii 11.2
361 hemophagocytic lymphohistiocytosis, familial, 2 11.2
362 salla disease 11.2
363 niemann-pick disease, type c2 11.2
364 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.2
365 ceroid lipofuscinosis, neuronal, 10 11.2
366 joubert syndrome 6 11.2
367 neurodevelopmental disorder with central and peripheral motor dysfunction 11.2
368 liang-wang syndrome 11.2
369 tyrosinemia 11.2
370 pelizaeus-merzbacher-like disease 11.2
371 telangiectasis 11.2
372 progressive myoclonus epilepsy 7 11.2
373 nkx6-2-related disorder 11.2
374 partington x-linked mental retardation syndrome 11.2
375 leukodystrophy 11.2
376 paraneoplastic cerebellar degeneration 11.1
377 abetalipoproteinemia 11.1
378 multiple sclerosis 11.1
379 mohr-tranebjaerg syndrome 11.1
380 pelizaeus-merzbacher disease 11.1
381 spastic paraplegia 5a, autosomal recessive 11.1
382 spinocerebellar degeneration and corneal dystrophy 11.1
383 spastic paraplegia 16, x-linked 11.1
384 superficial siderosis 11.1
385 aniridia 1 11.1
386 cerebrotendinous xanthomatosis 11.1
387 pnpla6-related disorders 11.1
388 alternating hemiplegia of childhood 11.1
389 copper deficiency myelopathy 11.1
390 auditory neuropathy spectrum disorder 11.1
391 prion disease 11.1
392 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 11.1
393 tay-sachs disease 11.1
394 spastic paraplegia 4 11.1
395 mitochondrial dna depletion syndrome 4a 11.1
396 neuraminidase deficiency 11.1
397 hypomyelinating leukodystrophy 11.1
398 superficial siderosis of the central nervous system 11.1
399 megalencephalic leukoencephalopathy with subcortical cysts 1 11.1
400 amyloidosis, hereditary, transthyretin-related 11.1
401 wilson disease 11.1
402 adrenoleukodystrophy 11.1
403 microcephaly, seizures, and developmental delay 11.1
404 simultanagnosia 11.1
405 glycoproteinosis 11.1
406 adrenomyeloneuropathy 11.1
407 sporadic hemiplegic migraine 11.1
408 bickerstaff brainstem encephalitis 11.1
409 pernicious anemia 11.1
410 peroxisome biogenesis disorder 6b 11.1
411 perrault syndrome 11.1
412 hypertrophic olivary degeneration 11.1
413 dystonia 12 11.1
414 cowden syndrome 1 11.1
415 scoliosis, isolated 1 11.1
416 congenital disorder of glycosylation, type ia 11.1
417 sandhoff disease 11.1
418 menkes disease 11.1
419 chromosome 15q11-q13 duplication syndrome 11.1
420 wolfram syndrome 11.1
421 nephronophthisis 11.1
422 rhombencephalosynapsis 11.1
423 von hippel-lindau syndrome 11.1
424 chediak-higashi syndrome 11.1
425 gm1-gangliosidosis, type ii 11.1
426 metachromatic leukodystrophy 11.1
427 mitochondrial complex i deficiency, nuclear type 1 11.1
428 mental retardation, x-linked, syndromic, cabezas type 11.1
429 fatal familial insomnia 11.1
430 peroxisome biogenesis disorder 1b 11.1
431 convulsions, familial infantile, with paroxysmal choreoathetosis 11.1
432 charcot-marie-tooth disease, axonal, type 2b2 11.1
433 joubert syndrome 3 11.1
434 auditory neuropathy, autosomal dominant, 1 11.1
435 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.1
436 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.1
437 alpha-methylacyl-coa racemase deficiency 11.1
438 neuropathy, hereditary motor and sensory, type vib, with optic atrophy 11.1
439 epilepsy, progressive myoclonic, 9 11.1
440 bile acid synthesis defect, congenital, 6 11.1
441 2-hydroxyglutaric aciduria 11.1
442 hypomyelinating leukoencephalopathy 11.1
443 familial adult myoclonic epilepsy 11.1
444 nuclear gene-encoded leigh syndrome 11.1
445 spastic paraplegia 8 11.1
446 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids 11.1
447 marchiafava bignami disease 11.1
448 migraine with brainstem aura 11.1
449 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 11.1
450 paroxysmal exertion-induced dyskinesia 11.1
451 spastic paraplegia 15 11.1
452 spastic paraplegia 26 11.1
453 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.0
454 laurence-moon syndrome 11.0
455 neurodegeneration with brain iron accumulation 3 11.0
456 ceroid lipofuscinosis, neuronal, 11 11.0
457 neuroblastoma 11.0
458 charcot-marie-tooth disease, axonal, type 2t 11.0
459 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.0
460 basal ganglia calcification, idiopathic, 1 11.0
461 leigh syndrome, french canadian type 11.0
462 glut1 deficiency syndrome 1 11.0
463 leukodystrophy, hypomyelinating, 6 11.0
464 megalencephalic leukoencephalopathy with subcortical cysts 2a 11.0
465 joubert syndrome 15 11.0
466 leukoencephalopathy, progressive, with ovarian failure 11.0
467 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.0
468 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 11.0
469 optic atrophy 11 11.0
470 multiple mitochondrial dysfunctions syndrome 6 11.0
471 autosomal dominant leukodystrophy with autonomic disease 11.0
472 tremor 10.9
473 dystonia 11, myoclonic 10.9
474 argininemia 10.9
475 glutathione synthetase deficiency 10.9
476 sulfite oxidase deficiency, isolated 10.9
477 chanarin-dorfman syndrome 10.9
478 urocanase deficiency 10.9
479 raynaud-claes syndrome 10.9
480 phosphoribosylpyrophosphate synthetase superactivity 10.9
481 joubert syndrome 10 10.9
482 neurodegeneration with brain iron accumulation 5 10.9
483 congenital cataracts, facial dysmorphism, and neuropathy 10.9
484 ceroid lipofuscinosis, neuronal, 9 10.9
485 ceroid lipofuscinosis, neuronal, 7 10.9
486 waardenburg syndrome, type 2e 10.9
487 cerebroretinal microangiopathy with calcifications and cysts 1 10.9
488 purine nucleoside phosphorylase deficiency 10.9
489 perrault syndrome 3 10.9
490 epileptic encephalopathy, early infantile, 13 10.9
491 coenzyme q10 deficiency, primary, 3 10.9
492 coenzyme q10 deficiency, primary, 5 10.9
493 muscular dystrophy, limb-girdle, autosomal recessive 18 10.9
494 joubert syndrome 21 10.9
495 myopathy with extrapyramidal signs 10.9
496 xia-gibbs syndrome 10.9
497 leukodystrophy, hypomyelinating, 9 10.9
498 short stature, microcephaly, and endocrine dysfunction 10.9
499 epilepsy, progressive myoclonic, 10 10.9
500 charcot-marie-tooth disease, type 4k 10.9
501 mental retardation, autosomal recessive 53 10.9
502 arthrogryposis, distal, with impaired proprioception and touch 10.9
503 cerebroretinal microangiopathy with calcifications and cysts 2 10.9
504 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 10.9
505 joubert syndrome 33 10.9
506 glycosylphosphatidylinositol biosynthesis defect 15 10.9
507 developmental delay and seizures with or without movement abnormalities 10.9
508 leukodystrophy, hypomyelinating, 15 10.9
509 mitochondrial complex v deficiency, nuclear type 5 10.9
510 glycosylphosphatidylinositol biosynthesis defect 18 10.9
511 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 10.9
512 neurodevelopmental disorder with impaired speech and hyperkinetic movements 10.9
513 encephalopathy, acute, infection-induced 9 10.9
514 neurodegeneration with brain iron accumulation 10.9
515 biotin-thiamine-responsive basal ganglia disease 10.9
516 tubb4a-related leukodystrophy 10.9
517 med13l haploinsufficiency syndrome 10.9
518 ramsay hunt syndrome i 10.9
519 epilepsy, progressive myoclonic 7 10.9
520 spasticity, childhood-onset, with hyperglycinemia 10.9
521 encephalopathy, progressive, with amyotrophy and optic atrophy 10.9
522 balint syndrome 10.9
523 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 10.9
524 pathologic nystagmus 10.8
525 neuropathy 10.8
526 myoclonus 10.7
527 aniridia and absent patella 10.7
528 chiari malformation type i 10.7
529 mitochondrial complex iii deficiency, nuclear type 1 10.7
530 oculodentodigital dysplasia 10.7
531 piebald trait with neurologic defects 10.7
532 acrocallosal syndrome 10.7
533 2-aminoadipic 2-oxoadipic aciduria 10.7
534 brown-vialetto-van laere syndrome 1 10.7
535 cerebellar hypoplasia with endosteal sclerosis 10.7
536 citrullinemia, classic 10.7
537 wolfram syndrome 1 10.7
538 folate malabsorption, hereditary 10.7
539 gaucher disease, type iii 10.7
540 neurodegeneration with brain iron accumulation 1 10.7
541 hydroxykynureninuria 10.7
542 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.7
543 ichthyosis, hepatosplenomegaly, and cerebellar degeneration 10.7
544 pyruvate dehydrogenase e2 deficiency 10.7
545 chylomicron retention disease 10.7
546 dihydrolipoamide dehydrogenase deficiency 10.7
547 3-methylglutaconic aciduria, type iv 10.7
548 ceroid lipofuscinosis, neuronal, 1 10.7
549 mitochondrial dna depletion syndrome 6 10.7
550 neuropathy, hereditary sensory, atypical 10.7
551 lissencephaly 2 10.7
552 wiedemann-rautenstrauch syndrome 10.7
553 infantile sialic acid storage disease 10.7
554 striatonigral degeneration, infantile 10.7
555 xeroderma pigmentosum, complementation group d 10.7
556 xeroderma pigmentosum, complementation group g 10.7
557 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.7
558 phosphoglycerate kinase 1 deficiency 10.7
559 ceroid lipofuscinosis, neuronal, 8 10.7
560 phosphoglycerate dehydrogenase deficiency 10.7
561 hemophagocytic lymphohistiocytosis, familial, 4 10.7
562 epileptic encephalopathy, early infantile, 6 10.7
563 thiamine metabolism dysfunction syndrome 2 10.7
564 spondyloenchondrodysplasia with immune dysregulation 10.7
565 joubert syndrome 2 10.7
566 congenital disorder of glycosylation, type ih 10.7
567 hemophagocytic lymphohistiocytosis, familial, 3 10.7
568 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.7
569 colloid cysts of third ventricle 10.7
570 joubert syndrome 4 10.7
571 joubert syndrome 5 10.7
572 leukodystrophy, hypomyelinating, 5 10.7
573 xeroderma pigmentosum, complementation group b 10.7
574 joubert syndrome 7 10.7
575 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 10.7
576 joubert syndrome 9 10.7
577 joubert syndrome 8 10.7
578 congenital disorder of glycosylation, type iq 10.7
579 multiple sclerosis 3 10.7
580 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.7
581 neurodegeneration due to cerebral folate transport deficiency 10.7
582 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 10.7
583 hemophagocytic lymphohistiocytosis, familial, 5 10.7
584 combined oxidative phosphorylation deficiency 7 10.7
585 nephronophthisis 12 10.7
586 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 10.7
587 mitochondrial complex v deficiency, nuclear type 3 10.7
588 n-acetylaspartate deficiency 10.7
589 joubert syndrome 13 10.7
590 meckel syndrome, type 10 10.7
591 nescav syndrome 10.7
592 wolfram-like syndrome, autosomal dominant 10.7
593 pontine tegmental cap dysplasia 10.7
594 multiple sclerosis 5 10.7
595 joubert syndrome 18 10.7
596 nephronophthisis 14 10.7
597 peroxisome biogenesis disorder 8b 10.7
598 combined oxidative phosphorylation deficiency 15 10.7
599 joubert syndrome 20 10.7
600 basal ganglia calcification, idiopathic, 4 10.7
601 mitochondrial complex iii deficiency, nuclear type 3 10.7
602 mitochondrial complex iii deficiency, nuclear type 4 10.7
603 muscular dystrophy-dystroglycanopathy , type a, 14 10.7
604 basal ganglia calcification, idiopathic, 5 10.7
605 joubert syndrome 22 10.7
606 cortical dysplasia, complex, with other brain malformations 6 10.7
607 immunodeficiency 23 10.7
608 mitochondrial complex iii deficiency, nuclear type 8 10.7
609 combined oxidative phosphorylation deficiency 20 10.7
610 bardet-biedl syndrome 12 10.7
611 basal ganglia calcification, idiopathic, 6 10.7
612 joubert syndrome 23 10.7
613 charcot-marie-tooth disease, axonal, type 2v 10.7
614 joubert syndrome 24 10.7
615 joubert syndrome 25 10.7
616 joubert syndrome 26 10.7
617 macrocephaly, dysmorphic facies, and psychomotor retardation 10.7
618 joubert syndrome 27 10.7
619 joubert syndrome 28 10.7
620 aniridia 2 10.7
621 spastic paraplegia 78, autosomal recessive 10.7
622 meckel syndrome 13 10.7
623 joubert syndrome 30 10.7
624 epileptic encephalopathy, early infantile, 56 10.7
625 joubert syndrome 32 10.7
626 joubert syndrome 31 10.7
627 neurodegeneration with brain iron accumulation 7 10.7
628 neurodegeneration with brain iron accumulation 8 10.7
629 neurodevelopmental disorder with cerebellar atrophy and with or without seizures 10.7
630 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 10.7
631 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 10.7
632 joubert syndrome 35 10.7
633 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 10.7
634 basal ganglia calcification, idiopathic, 7, autosomal recessive 10.7
635 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 10.7
636 neurodevelopmental disorder with or without variable brain abnormalities 10.7
637 cerebellar, ocular, craniofacial, and genital syndrome 10.7
638 intellectual developmental disorder 60 with seizures 10.7
639 leukodystrophy, hypomyelinating, 19, transient infantile 10.7
640 joubert syndrome 36 10.7
641 basal ganglia calcification, idiopathic, 8, autosomal recessive 10.7
642 retinal dystrophy with leukodystrophy 10.7
643 epilepsy, progressive myoclonic, 11 10.7
644 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 10.7
645 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 10.7
646 waldenstroem's macroglobulinemia 10.7
647 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 10.7
648 progressive myoclonus epilepsy 10 10.7
649 progressive myoclonus epilepsy 9 10.7
650 multisystem proteinopathy 10.7
651 louping ill 10.7
652 acoustic neuroma 10.7
653 kernicterus 10.7
654 barbiturate dependence 10.7
655 striatonigral degeneration 10.7
656 clpb deficiency 10.7
657 free sialic acid storage disorders 10.7
658 giant axonal neuropathy 10.7
659 tango2-related metabolic encephalopathy and arrhythmias 10.7
660 adult neuronal ceroid lipofuscinosis 10.7
661 brain dopamine-serotonin vesicular transport disease 10.7
662 canomad syndrome 10.7
663 cardiomyopathy and deafness due to trna lysine gene mutation 10.7
664 cerebellar hypoplasia tapetoretinal degeneration 10.7
665 encephalocele 10.7
666 lymphomatoid granulomatosis 10.7
667 madras motor neuron disease 10.7
668 ouvrier billson syndrome 10.7
669 rosette-forming glioneuronal tumor 10.7
670 severe intellectual disability-progressive spastic diplegia syndrome 10.7
671 subacute cerebellar degeneration 10.7
672 x-linked cerebral adrenoleukodystrophy 10.7
673 x-linked charcot-marie-tooth disease 10.7
674 19p13.13 deletion syndrome 10.7
675 alg1-congenital disorder of glycosylation 10.7
676 alg6-congenital disorder of glycosylation 10.7
677 cln4 disease 10.7
678 acute necrotizing encephalopathy type 1 10.7
679 genetic epilepsy with febrile seizures plus 10.7
680 glucose phosphate isomerase deficiency 10.7
681 lissencephaly with cerebellar hypoplasia 10.7
682 familial spastic paralysis 10.7
683 korsakoff's amnesic syndrome 10.7
684 myoclonic encephalopathy of infants 10.7
685 autosomal recessive disease 10.7
686 dystonia 10.7
687 apraxia 10.7
688 spastic paraplegia 7, autosomal recessive 10.7
689 peripheral nervous system disease 10.7
690 oculomotor apraxia 10.6
691 spasticity 10.6
692 spastic paraplegia 4, autosomal dominant 10.6
693 huntington disease 10.6
694 spastic paraplegia 46, autosomal recessive 10.6
695 paraplegia 10.5
696 branchiootic syndrome 1 10.5
697 dysphagia 10.5
698 spastic paraplegia 11, autosomal recessive 10.5
699 spastic paraplegia 54, autosomal recessive 10.5
700 atrial standstill 1 10.5
701 sensory peripheral neuropathy 10.5
702 hypotonia 10.5
703 hypertrophic cardiomyopathy 10.5
704 chorea, childhood-onset, with psychomotor retardation 10.5
705 choreatic disease 10.5
706 mast syndrome 10.5
707 spastic paraplegia 15, autosomal recessive 10.5
708 spastic paraplegia 9a, autosomal dominant 10.5
709 spastic paraplegia 10, autosomal dominant 10.5
710 spastic paraplegia 12, autosomal dominant 10.5
711 spastic paraplegia 26, autosomal recessive 10.5
712 spastic paraplegia 31, autosomal dominant 10.5
713 spastic paraplegia 73, autosomal dominant 10.5
714 spastic paraplegia 9b, autosomal recessive 10.5
715 migraine with or without aura 1 10.5
716 scoliosis 10.5
717 hypogonadism 10.5
718 retinal degeneration 10.4
719 encephalopathy 10.4
720 alacrima, achalasia, and mental retardation syndrome 10.4
721 fragile x syndrome 10.4
722 pure hereditary spastic paraplegia 10.4
723 seizures, benign familial neonatal, 1 10.4
724 muscular atrophy 10.4
725 encephalitis 10.4
726 seizure disorder 10.4
727 spastic paraplegia 23, autosomal recessive 10.4
728 spastic paraplegia 30, autosomal dominant 10.4
729 hereditary spastic paraplegia 30 10.4
730 chickenpox 10.4
731 visual epilepsy 10.3
732 amyotrophic lateral sclerosis 1 10.3
733 lateral sclerosis 10.3
734 dementia 10.3
735 sensorineural hearing loss 10.3
736 microcephaly 10.3
737 allergic hypersensitivity disease 10.3
738 autonomic dysfunction 10.3
739 parkinson disease, late-onset 10.3
740 spastic paraparesis 10.3
741 xeroderma pigmentosum, variant type 10.3
742 epilepsy 10.3
743 mitochondrial disorders 10.3
744 leukemia 10.3
745 celiac disease 1 10.3
746 immune deficiency disease 10.3
747 charcot-marie-tooth disease 10.3
748 myopathy 10.3
749 hemosiderosis 10.3
750 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
751 lymphoma 10.3
752 tooth disease 10.3
753 breast cancer 10.2
754 stiff-person syndrome 10.2
755 leukemia, acute lymphoblastic 10.2
756 hypogonadotropic hypogonadism 10.2
757 dilated cardiomyopathy 10.2
758 rare hereditary hemochromatosis 10.2
759 macular degeneration, age-related, 1 10.2
760 ptosis 10.2
761 hypothyroidism 10.2
762 yemenite deaf-blind hypopigmentation syndrome 10.2
763 microvascular complications of diabetes 5 10.2
764 cataract 10.2
765 refractive error 10.2
766 motor neuron disease 10.2
767 myoclonus epilepsy 10.2
768 headache 10.2
769 hemiplegia 10.2
770 cervical dystonia 10.2
771 primary cerebellar degeneration 10.2
772 premature aging 10.2
773 exanthem 10.2
774 respiratory failure 10.2
775 early myoclonic encephalopathy 10.2
776 sleep disorder 10.2
777 meningitis 10.2
778 t-cell prolymphocytic leukemia 10.2
779 cerebral atrophy 10.2
780 deficiency anemia 10.2
781 neuromuscular disease 10.2
782 essential tremor 10.2
783 lymphopenia 10.2
784 diabetes mellitus 10.2
785 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.2
786 supranuclear palsy, progressive, 1 10.2
787 malaria 10.2
788 immunoglobulin alpha deficiency 10.2
789 myotonic dystrophy 10.2
790 autoimmune disease 10.1
791 syne1 deficiency 10.1
792 dysautonomia 10.1
793 alcohol dependence 10.1
794 strabismus 10.1
795 lymphoma, hodgkin, classic 10.1
796 mechanical strabismus 10.1
797 pfeiffer syndrome 10.1
798 fanconi anemia, complementation group a 10.1
799 hydrocephalus 10.1
800 optic nerve disease 10.1
801 muscular dystrophy 10.1
802 glucose intolerance 10.1
803 beriberi 10.1
804 agammaglobulinemia 10.1
805 histiocytosis 10.1
806 congestive heart failure 10.1
807 t-cell lymphoblastic leukemia/lymphoma 10.1
808 lupus erythematosus 10.1
809 47,xyy 10.1
810 48,xyyy 10.1
811 restless legs syndrome 10.1
812 siderosis 10.1
813 pancytopenia 10.1
814 severe combined immunodeficiency 10.1
815 b-cell lymphoma 10.1
816 lung disease 10.1
817 diabetes insipidus 10.1
818 alzheimer disease 10.1
819 xanthomatosis 10.1
820 mumps 10.1
821 internuclear ophthalmoplegia 10.1
822 speech disorder 10.1
823 fmr1 disorders 10.1
824 leukemia, t-cell, chronic 10.1
825 pure autonomic failure 10.1
826 spastic paraplegia 17, autosomal dominant 10.1
827 spastic paraplegia 20, autosomal recessive 10.1
828 spastic paraplegia 34, x-linked 10.1
829 spastic paraplegia 6, autosomal dominant 10.1
830 spastic paraplegia 8, autosomal dominant 10.1
831 spastic paraplegia 14, autosomal recessive 10.1
832 spastic paraplegia 13, autosomal dominant 10.1
833 spastic paraplegia 19, autosomal dominant 10.1
834 spastic paraplegia 24, autosomal recessive 10.1
835 spastic paraplegia 25, autosomal recessive 10.1
836 spastic paraplegia 27, autosomal recessive 10.1
837 spastic paraplegia 28, autosomal recessive 10.1
838 spastic paraplegia, optic atrophy, and neuropathy 10.1
839 spastic paraplegia 29, autosomal dominant 10.1
840 spastic paraplegia 18, autosomal recessive 10.1
841 spastic paraplegia 32, autosomal recessive 10.1
842 spastic paraplegia 37, autosomal dominant 10.1
843 spastic paraplegia 39, autosomal recessive 10.1
844 spastic paraplegia 38, autosomal dominant 10.1
845 spastic paraplegia 42, autosomal dominant 10.1
846 spastic paraplegia 36, autosomal dominant 10.1
847 spastic paraplegia 45, autosomal recessive 10.1
848 spastic paraplegia 44, autosomal recessive 10.1
849 spastic paraplegia 41, autosomal dominant 10.1
850 spastic paraplegia 48, autosomal recessive 10.1
851 spastic paraplegia 53, autosomal recessive 10.1
852 spastic paraplegia 56, autosomal recessive 10.1
853 spastic paraplegia 49, autosomal recessive 10.1
854 spastic paraplegia 55, autosomal recessive 10.1
855 spastic paraplegia 43, autosomal recessive 10.1
856 spastic paraplegia 57, autosomal recessive 10.1
857 spastic paraplegia 62, autosomal recessive 10.1
858 spastic paraplegia 64, autosomal recessive 10.1
859 spastic paraplegia 61, autosomal recessive 10.1
860 spastic paraplegia 63, autosomal recessive 10.1
861 leukodystrophy, hypomyelinating, 11 10.1
862 spastic paraplegia 75, autosomal recessive 10.1
863 spastic paraplegia 77, autosomal recessive 10.1
864 burkitt lymphoma 10.1
865 leukemia, chronic lymphocytic 10.1
866 systemic lupus erythematosus 10.1
867 torticollis 10.1
868 premature ovarian failure 1 10.1
869 heart disease 10.1
870 status epilepticus 10.1
871 mitochondrial metabolism disease 10.1
872 progressive myoclonus epilepsy 10.1
873 sideroblastic anemia 10.1
874 athetosis 10.1
875 limbic encephalitis 10.1
876 retinitis pigmentosa 10.0
877 neuroretinitis 10.0
878 polyneuropathy 10.0
879 retinitis 10.0
880 axonal neuropathy 10.0
881 mitochondrial dna-associated leigh syndrome and narp 10.0
882 creutzfeldt-jakob disease 10.0
883 langerhans cell histiocytosis 10.0
884 sleep apnea 10.0
885 meningoencephalitis 10.0
886 thyroiditis 10.0
887 herpes simplex 10.0
888 measles 10.0
889 mitochondrial encephalomyopathy 10.0
890 learning disability 10.0
891 paraneoplastic syndromes 10.0
892 multiple system atrophy, cerebellar type 10.0
893 precursor t-cell acute lymphoblastic leukemia 10.0
894 cone-rod dystrophy 2 10.0
895 retinoblastoma 10.0
896 lambert-eaton myasthenic syndrome 10.0
897 hereditary sensory neuropathy 10.0
898 autonomic neuropathy 10.0
899 diarrhea 10.0
900 typhoid fever 10.0
901 cystitis 10.0
902 neuritis 10.0
903 lactic acidosis 10.0
904 ganglioneuroblastoma 10.0
905 familial retinoblastoma 10.0
906 acute disseminated encephalomyelitis 10.0
907 mitochondrial myopathy 10.0
908 fundus dystrophy 10.0
909 narcolepsy 10.0
910 rem sleep behavior disorder 10.0
911 spasmodic dysphonia 10.0
912 inherited retinal disorder 10.0
913 candidiasis, familial, 1 10.0
914 bloom syndrome 10.0
915 sjogren syndrome 10.0
916 lymphoma, non-hodgkin, familial 10.0
917 diabetes mellitus, ketosis-prone 10.0
918 alkuraya-kucinskas syndrome 10.0
919 focal dystonia 10.0
920 aphasia 10.0
921 prolymphocytic leukemia 10.0
922 graves' disease 10.0
923 spinal muscular atrophy 10.0
924 astrocytoma 10.0
925 lysosomal storage disease 10.0
926 mood disorder 10.0
927 agnosia 10.0
928 glioma 10.0
929 congenital amyoplasia 10.0
930 colorectal cancer 10.0
931 hypercholesterolemia, familial, 1 10.0
932 lung cancer 10.0
933 insulin-like growth factor i 10.0
934 anemia, sideroblastic, 1 10.0
935 frontotemporal dementia 10.0
936 stroke, ischemic 10.0
937 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.0
938 aspiration pneumonia 10.0
939 autism spectrum disorder 10.0
940 tetanus 10.0
941 quadriplegia 10.0
942 facial paralysis 10.0
943 amenorrhea 10.0
944 focal epilepsy 10.0
945 neuroaxonal dystrophy 10.0
946 demyelinating polyneuropathy 10.0
947 infertility 10.0
948 amyloidosis 10.0
949 bronchiectasis 10.0
950 atp1a3-related neurologic disorders 10.0
951 paresthesia 10.0
952 posttransplant acute limbic encephalitis 10.0
953 rare neurodegenerative disease 10.0
954 hereditary optic neuropathy 10.0
955 attention deficit-hyperactivity disorder 9.9
956 myxedema 9.9
957 leukemia, acute myeloid 9.9
958 gastric cancer 9.9
959 aseptic meningitis 9.9
960 impotence 9.9
961 constipation 9.9
962 cockayne syndrome 9.9
963 demyelinating disease 9.9
964 teratoma 9.9
965 mutism 9.9
966 kidney disease 9.9
967 herpes zoster 9.9
968 hodgkin's lymphoma, lymphocytic-histiocytic predominance 9.9
969 vasculitis 9.9
970 myeloid leukemia 9.9
971 congenital disorders of n-linked glycosylation and multiple pathway 9.9
972 polg-related disorders 9.9
973 autoimmune encephalitis 9.9
974 hypertonia 9.9
975 paroxysmal dyskinesia 9.9
976 glial tumor 9.9
977 familial or sporadic hemiplegic migraine 9.9
978 masa syndrome 9.9
979 spastic paraparesis and deafness 9.9
980 spastic paraplegia 72, autosomal recessive 9.9
981 hereditary spastic paraplegia 23 9.9
982 hereditary spastic paraplegia 72 9.9
983 inherited congenital spastic tetraplegia 9.9
984 spastic paraplegia-paget disease of bone syndrome 9.9
985 x-linked pure spastic paraplegia 9.9
986 pure or complex hereditary spastic paraplegia 9.9
987 pure or complex autosomal dominant spastic paraplegia 9.9
988 pure or complex autosomal recessive spastic paraplegia 9.9
989 pure or complex x-linked spastic paraplegia 9.9
990 mt-atp6-related mitochondrial spastic paraplegia 9.9
991 autosomal recessive spastic paraplegia type 60 9.9
992 autosomal recessive spastic paraplegia type 59 9.9
993 autosomal recessive spastic paraplegia type 69 9.9
994 autosomal recessive spastic paraplegia type 70 9.9
995 autosomal recessive spastic paraplegia type 71 9.9
996 autosomal recessive spastic paraplegia type 66 9.9
997 autosomal recessive spastic paraplegia type 67 9.9
998 autosomal dominant spastic paraplegia type 9b 9.9
999 x-linked complex spastic paraplegia 9.9
1000 complex hereditary spastic paraplegia 9.9
1001 autosomal recessive pure spastic paraplegia 9.9
1002 autosomal recessive complex spastic paraplegia 9.9
1003 autosomal dominant pure spastic paraplegia 9.9
1004 autosomal dominant complex spastic paraplegia 9.9
1005 hashimoto thyroiditis 9.9
1006 otitis media 9.9
1007 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9
1008 mitochondrial complex iv deficiency 9.9
1009 diabetes mellitus, type i 9.9
1010 werner syndrome 9.9
1011 xeroderma pigmentosum, complementation group a 9.9
1012 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
1013 myocardial infarction 9.9
1014 human immunodeficiency virus type 1 9.9
1015 small cell carcinoma 9.9
1016 pontocerebellar hypoplasia 9.9
1017 covid-19 9.9
1018 pertussis 9.9
1019 optic neuritis 9.9
1020 common variable immunodeficiency 9.9
1021 neutropenia 9.9
1022 acute leukemia 9.9
1023 neuronal ceroid lipofuscinosis 9.9
1024 thrombocytopenia 9.9
1025 liver disease 9.9
1026 syphilis 9.9
1027 liver cirrhosis 9.9
1028 blepharospasm 9.9
1029 t-cell acute lymphoblastic leukemia 9.9
1030 subacute delirium 9.9
1031 rubella 9.9
1032 hypoglycemia 9.9
1033 acute mountain sickness 9.9
1034 gangliosidosis 9.9
1035 primary agammaglobulinemia 9.9
1036 wallerian degeneration 9.9
1037 traumatic brain injury 9.9
1038 argyria 9.9
1039 multiple system atrophy, parkinsonian type 9.9
1040 ovarian cancer 9.9
1041 autism 9.9
1042 hemochromatosis, type 1 9.9
1043 abnormal hair, joint laxity, and developmental delay 9.9
1044 graves disease 1 9.9
1045 muscular dystrophy, duchenne type 9.9
1046 dermatitis herpetiformis, familial 9.9
1047 cerebral palsy, ataxic, autosomal recessive 9.9
1048 anxiety 9.9
1049 congenital disorder of glycosylation, type in 9.9
1050 major affective disorder 8 9.9
1051 major affective disorder 9 9.9
1052 lung cancer susceptibility 3 9.9
1053 early infantile epileptic encephalopathy 9.9
1054 diffuse large b-cell lymphoma 9.9
1055 mantle cell lymphoma 9.9
1056 segmental dystonia 9.9
1057 oromandibular dystonia 9.9
1058 spasmodic dystonia 9.9
1059 migraine with aura 9.9
1060 bacterial infectious disease 9.9
1061 t cell deficiency 9.9
1062 diphtheria 9.9
1063 cauda equina syndrome 9.9
1064 lyme disease 9.9
1065 cortical blindness 9.9
1066 bronchopneumonia 9.9
1067 leiomyoma 9.9
1068 multiple cranial nerve palsy 9.9
1069 alcohol use disorder 9.9
1070 hepatitis b 9.9
1071 severe acute respiratory syndrome 9.9
1072 adenocarcinoma 9.9
1073 lipid metabolism disorder 9.9
1074 bipolar disorder 9.9
1075 dysgerminoma 9.9
1076 chronic inflammatory demyelinating polyradiculoneuropathy 9.9
1077 central pontine myelinolysis 9.9
1078 dermatitis herpetiformis 9.9
1079 nervous system disease 9.9
1080 neurofibromatosis 9.9
1081 alopecia 9.9
1082 cerebello-olivary atrophy 9.9
1083 dwarfism 9.9
1084 lymphosarcoma 9.9
1085 depression 9.9
1086 head injury 9.9
1087 thyroid carcinoma 9.9
1088 arbitrary restriction polymorphism 1 9.8
1089 hepatocellular carcinoma 9.8
1090 cardiac conduction defect 9.8
1091 charcot-marie-tooth disease, demyelinating, type 1a 9.8
1092 coloboma of macula 9.8
1093 renal cell carcinoma, nonpapillary 9.8
1094 li-fraumeni syndrome 9.8
1095 teratoma, ovarian 9.8
1096 papillomatosis, confluent and reticulated 9.8
1097 sarcoidosis 1 9.8
1098 schizophrenia 9.8
1099 thyroid cancer, nonmedullary, 1 9.8
1100 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
1101 myoclonic epilepsy of lafora 9.8
1102 epilepsy, progressive myoclonic, 4, with or without renal failure 9.8
1103 meningioma, radiation-induced 9.8
1104 body mass index quantitative trait locus 1 9.8
1105 meningioma, familial 9.8
1106 li-fraumeni syndrome 2 9.8
1107 west nile virus 9.8
1108 dystonia with cerebellar atrophy 9.8
1109 dengue virus 9.8
1110 analbuminemia 9.8
1111 mucopolysaccharidosis-plus syndrome 9.8
1112 joint laxity, short stature, and myopia 9.8
1113 helix syndrome 9.8
1114 vitamin b12 deficiency 9.8
1115 cone dystrophy 9.8
1116 hemorrhagic cystitis 9.8
1117 sexual disorder 9.8
1118 pain agnosia 9.8
1119 visual agnosia 9.8
1120 agraphia 9.8
1121 idiopathic scoliosis 9.8
1122 meningococcal meningitis 9.8
1123 asymptomatic neurosyphilis 9.8
1124 short bowel syndrome 9.8
1125 spastic diplegia 9.8
1126 spinal meningioma 9.8
1127 alternating exotropia 9.8
1128 exotropia 9.8
1129 horner's syndrome 9.8
1130 myopia 9.8
1131 goiter 9.8
1132 plasmodium falciparum malaria 9.8
1133 azoospermia 9.8
1134 mental depression 9.8
1135 keratosis 9.8
1136 squamous cell carcinoma 9.8
1137 vascular disease 9.8
1138 leiomyosarcoma 9.8
1139 relapsing-remitting multiple sclerosis 9.8
1140 gangliocytoma 9.8
1141 dermatitis 9.8
1142 myelitis 9.8
1143 gm2 gangliosidosis 9.8
1144 purpura 9.8
1145 vestibular disease 9.8
1146 skin carcinoma 9.8
1147 gastric adenocarcinoma 9.8
1148 pulmonary fibrosis 9.8
1149 pancreatic adenocarcinoma 9.8
1150 hyperglycemia 9.8
1151 polyradiculopathy 9.8
1152 polyradiculoneuropathy 9.8
1153 erdheim-chester disease 9.8
1154 dysgraphia 9.8
1155 secretory meningioma 9.8
1156 lymphoplasmacyte-rich meningioma 9.8
1157 ganglioneuroma 9.8
1158 pneumonia 9.8
1159 ovarian germ cell teratoma 9.8
1160 retinal disease 9.8
1161 subvalvular aortic stenosis 9.8
1162 hemolytic anemia 9.8
1163 bronchitis 9.8
1164 juvenile pilocytic astrocytoma 9.8
1165 myocarditis 9.8
1166 intracranial hypertension 9.8
1167 fatty liver disease 9.8
1168 bacterial meningitis 9.8
1169 developmental coordination disorder 9.8
1170 aminoaciduria 9.8
1171 chromosomal triplication 9.8
1172 hashimoto encephalopathy 9.8
1173 neurosyphilis 9.8
1174 brain injury 9.8
1175 cerebral beriberi 9.8
1176 dementia - subcortical 9.8
1177 developmental dyspraxia 9.8
1178 hereditary neuropathies 9.8
1179 arteries, anomalies of 9.8
1180 gastroesophageal reflux 9.8
1181 chorea, benign hereditary 9.8
1182 diabetes mellitus, noninsulin-dependent 9.8
1183 episodic kinesigenic dyskinesia 1 9.8
1184 erythrokeratodermia variabilis et progressiva 1 9.8
1185 fibrosis of extraocular muscles, congenital, 1 9.8
1186 fundus albipunctatus 9.8
1187 motion sickness 9.8
1188 phosphatase, acid, of tissues 9.8
1189 dowling-degos disease 1 9.8
1190 small cell cancer of the lung 9.8
1191 thrombocytopenic purpura, autoimmune 9.8
1192 ceroid lipofuscinosis, neuronal, 3 9.8
1193 anemia, autoimmune hemolytic 9.8
1194 cystinuria 9.8
1195 hyper-beta-alaninemia 9.8
1196 megalocornea-mental retardation syndrome 9.8
1197 myeloma, multiple 9.8
1198 neurodegeneration with brain iron accumulation 2a 9.8
1199 osteogenic sarcoma 9.8
1200 pancreatic cancer 9.8
1201 subacute sclerosing panencephalitis 9.8
1202 thymoma, familial 9.8
1203 wiskott-aldrich syndrome 9.8
1204 epilepsy, idiopathic generalized 9.8
1205 light fixation seizure syndrome 9.8
1206 kala-azar 1 9.8
1207 major depressive disorder 9.8
1208 hepatitis c virus 9.8
1209 fatty liver disease, nonalcoholic 1 9.8
1210 pyruvate dehydrogenase e1-beta deficiency 9.8
1211 hyperlipoproteinemia, type iii 9.8
1212 erythrokeratodermia variabilis et progressiva 5 9.8
1213 lipoprotein quantitative trait locus 9.8
1214 hemophagocytic lymphohistiocytosis 9.8
1215 brugada syndrome 9.8
1216 oral squamous cell carcinoma 9.8
1217 peroxisomal biogenesis disorder 9.8
1218 galloway-mowat syndrome 9.8
1219 thymus lymphoma 9.8
1220 suppression amblyopia 9.8
1221 amblyopia 9.8
1222 rickets 9.8
1223 amnestic disorder 9.8
1224 disseminated intravascular coagulation 9.8
1225 dysgammaglobulinemia 9.8
1226 nephrotic syndrome 9.8
1227 pica disease 9.8
1228 dissociated nystagmus 9.8
1229 benign paroxysmal positional nystagmus 9.8
1230 obstructive hydrocephalus 9.8
1231 personality disorder 9.8
1232 pneumothorax 9.8
1233 ichthyosis 9.8
1234 ectodermal dysplasia 9.8
1235 gastroenteritis 9.8
1236 iron metabolism disease 9.8
1237 acute kidney failure 9.8
1238 interstitial lung disease 9.8
1239 papillary carcinoma 9.8
1240 cutis laxa 9.8
1241 rhabdomyosarcoma 9.8
1242 thymoma 9.8
1243 thymic carcinoma 9.8
1244 signet ring cell adenocarcinoma 9.8
1245 arthropathy 9.8
1246 cranial nerve palsy 9.8
1247 mucoepidermoid carcinoma 9.8
1248 poliomyelitis 9.8
1249 gerstmann syndrome 9.8
1250 pituitary gland disease 9.8
1251 acquired immunodeficiency syndrome 9.8
1252 progressive multifocal leukoencephalopathy 9.8
1253 inherited metabolic disorder 9.8
1254 adenoma 9.8
1255 cerebrovascular disease 9.8
1256 hyperthyroidism 9.8
1257 sporadic breast cancer 9.8
1258 septic arthritis 9.8
1259 pellagra 9.8
1260 erythema infectiosum 9.8
1261 leishmaniasis 9.8
1262 pulmonary embolism 9.8
1263 esotropia 9.8
1264 toxoplasmosis 9.8
1265 familial monosomy 7 syndrome 9.8
1266 nkx2-1-related disorders 9.8
1267 progressive myoclonus epilepsy, lafora type 9.8
1268 sgce myoclonus-dystonia 9.8
1269 zellweger spectrum disorder 9.8
1270 corticobasal degeneration 9.8
1271 granulocytopenia 9.8
1272 growth hormone deficiency 9.8
1273 neonatal adrenoleukodystrophy 9.8
1274 neural crest tumor 9.8
1275 oral cancer 9.8
1276 chronic pain 9.8
1277 febrile seizures 9.8
1278 paroxysmal choreoathetosis 9.8
1279 swallowing disorders 9.8
1280 audiogenic seizures 9.8
1281 genetic neurodegenerative disease 9.8
1282 cerebellar malformation 9.8
1283 acute liver failure 9.8
1284 transient pseudohypoaldosteronism 9.8
1285 acanthosis nigricans 9.7
1286 atherosclerosis susceptibility 9.7
1287 bladder cancer 9.7
1288 carpal tunnel syndrome 9.7
1289 erythermalgia, primary 9.7
1290 immunoglobulin a deficiency 1 9.7
1291 lymphoma, mucosa-associated lymphoid type 9.7
1292 endosteal hyperostosis, autosomal dominant 9.7
1293 hypertelorism 9.7
1294 kaposi sarcoma 9.7
1295 lipomatosis, multiple 9.7
1296 antigen defined by monoclonal antibody aj9 9.7
1297 myelopathy, htlv-1-associated 9.7
1298 myositis 9.7
1299 neuropathy, hereditary, with liability to pressure palsies 9.7
1300 olivopontocerebellar atrophy v 9.7
1301 osteoporosis 9.7
1302 pneumothorax, primary spontaneous 9.7
1303 prostate cancer 9.7
1304 temporal arteritis 9.7
1305 thrombophilia due to thrombin defect 9.7
1306 wilms tumor 1 9.7
1307 ceroid storage disease 9.7
1308 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
1309 cystic fibrosis 9.7
1310 leukoencephalopathy, hereditary diffuse, with spheroids 9.7
1311 fanconi anemia, complementation group d2 9.7
1312 gaucher disease, type i 9.7
1313 hydrocephalus, congenital, 1 9.7
1314 leprosy 3 9.7
1315 macrocephaly/megalencephaly syndrome, autosomal recessive 9.7
1316 epilepsy, myoclonic juvenile 9.7
1317 proteasome-associated autoinflammatory syndrome 1 9.7
1318 hemophagocytic lymphohistiocytosis, familial, 1 9.7
1319 rhabdomyosarcoma 2 9.7
1320 xeroderma pigmentosum, complementation group f 9.7
1321 body mass index quantitative trait locus 11 9.7
1322 lesch-nyhan syndrome 9.7
1323 gonadoblastoma 9.7
1324 diabetes and deafness, maternally inherited 9.7
1325 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.7
1326 wilms tumor 5 9.7
1327 astigmatism 9.7
1328 cervical cancer 9.7
1329 mitochondrial complex v deficiency, nuclear type 1 9.7
1330 orthostatic intolerance 9.7
1331 bone mineral density quantitative trait locus 3 9.7
1332 legionnaire disease 9.7
1333 lung cancer susceptibility 1 9.7
1334 aplastic anemia 9.7
1335 mutagen sensitivity 9.7
1336 bone mineral density quantitative trait locus 8 9.7
1337 muscular dystrophy, congenital, lmna-related 9.7
1338 bone mineral density quantitative trait locus 15 9.7
1339 occult macular dystrophy 9.7
1340 muscle hypertrophy 9.7
1341 myelodysplastic syndrome 9.7
1342 graft-versus-host disease 9.7
1343 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
1344 hypobetalipoproteinemia, familial, 1 9.7
1345 cholangiocarcinoma 9.7
1346 carbonic anhydrase va deficiency, hyperammonemia due to 9.7
1347 epileptic encephalopathy, early infantile, 32 9.7
1348 spastic paraplegia 76, autosomal recessive 9.7
1349 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.7
1350 leukodystrophy, progressive, early childhood-onset 9.7
1351 neuronal ceroid-lipofuscinoses 9.7
1352 chikungunya 9.7
1353 congenital hypothyroidism 9.7
1354 exanthema subitum 9.7
1355 adult t-cell leukemia 9.7
1356 inflammatory bowel disease 9.7
1357 female breast cancer 9.7
1358 follicular lymphoma 9.7
1359 form agnosia 9.7
1360 organic acidemia 9.7
1361 3-methylglutaconic aciduria 9.7
1362 lymphoproliferative syndrome 9.7
1363 early-onset parkinson's disease 9.7
1364 thrombosis 9.7
1365 lymphoblastic lymphoma 9.7
1366 non-alcoholic fatty liver disease 9.7
1367 non-alcoholic steatohepatitis 9.7
1368 pleomorphic lipoma 9.7
1369 monocular esotropia 9.7
1370 parotitis 9.7
1371 pre-eclampsia 9.7
1372 portal hypertension 9.7
1373 gastric ulcer 9.7
1374 abducens nerve disease 9.7
1375 hypoparathyroidism 9.7
1376 microcytic anemia 9.7
1377 solar retinopathy 9.7
1378 tick paralysis 9.7
1379 arteriovenous malformation 9.7
1380 iron deficiency anemia 9.7
1381 low compliance bladder 9.7
1382 male infertility 9.7
1383 hepatitis a 9.7
1384 hepatic coma 9.7
1385 hereditary hemorrhagic telangiectasia 9.7
1386 diabetic polyneuropathy 9.7
1387 mucopolysaccharidosis iii 9.7
1388 plasmodium vivax malaria 9.7
1389 porphyria 9.7
1390 megaloblastic anemia 9.7
1391 color blindness 9.7
1392 neurosarcoidosis 9.7
1393 hepatic encephalopathy 9.7
1394 alexia 9.7
1395 tuberous sclerosis 9.7
1396 osteopetrosis 9.7
1397 biliary atresia 9.7
1398 squamous cell papilloma 9.7
1399 somatization disorder 9.7
1400 autoimmune polyendocrine syndrome 9.7
1401 selective igg deficiency disease 9.7
1402 gonadal dysgenesis 9.7
1403 46 xx gonadal dysgenesis 9.7
1404 avoidant personality disorder 9.7
1405 communicating hydrocephalus 9.7
1406 childhood absence epilepsy 9.7
1407 hepatitis c 9.7
1408 malignant fibrous histiocytoma 9.7
1409 melanoma 9.7
1410 gaucher's disease 9.7
1411 pharyngitis 9.7
1412 motor peripheral neuropathy 9.7
1413 basal cell carcinoma 9.7
1414 hemangioma 9.7
1415 papilloma 9.7
1416 benign mesothelioma 9.7
1417 dyskeratosis congenita 9.7
1418 epidermolysis bullosa 9.7
1419 tic disorder 9.7
1420 hemoglobinopathy 9.7
1421 glomerulonephritis 9.7
1422 pulmonary tuberculosis 9.7
1423 antiphospholipid syndrome 9.7
1424 acinar cell carcinoma 9.7
1425 glioblastoma multiforme 9.7
1426 lipomatosis 9.7
1427 tropical spastic paraparesis 9.7
1428 ischemia 9.7
1429 germinoma 9.7
1430 gm1 gangliosidosis 9.7
1431 lateral medullary syndrome 9.7
1432 merkel cell carcinoma 9.7
1433 radiculopathy 9.7
1434 non-langerhans-cell histiocytosis 9.7
1435 fibrous histiocytoma 9.7
1436 dyslexia 9.7
1437 intracranial hypotension 9.7
1438 brain edema 9.7
1439 cerebellar astrocytoma 9.7
1440 pilocytic astrocytoma of cerebellum 9.7
1441 anterior horn cell disease 9.7
1442 intrahepatic cholangiocarcinoma 9.7
1443 epidermolysis bullosa dystrophica 9.7
1444 mature teratoma 9.7
1445 viral encephalitis 9.7
1446 bilateral breast cancer 9.7
1447 monoclonal gammopathy of uncertain significance 9.7
1448 malignant pleural mesothelioma 9.7
1449 epilepsy with generalized tonic-clonic seizures 9.7
1450 night blindness 9.7
1451 chronic fatigue syndrome 9.7
1452 ulcerative colitis 9.7
1453 peroxisomal disease 9.7
1454 mucocutaneous leishmaniasis 9.7
1455 achalasia 9.7
1456 central sleep apnea 9.7
1457 congenital nystagmus 9.7
1458 diabetic neuropathy 9.7
1459 hypereosinophilic syndrome 9.7
1460 albinism 9.7
1461 charcot-marie-tooth hereditary neuropathy 9.7
1462 hereditary dystonia 9.7
1463 hereditary motor and sensory neuropathy with agenesis of the corpus callosum 9.7
1464 isolated gonadotropin-releasing hormone deficiency 9.7
1465 prrt2-associated paroxysmal movement disorders 9.7
1466 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.7
1467 chronic active epstein-barr virus infection 9.7
1468 cytokine deficiency 9.7
1469 germ cells tumors 9.7
1470 haemophilus influenzae 9.7
1471 hansen's disease 9.7
1472 herpes zoster ophthalmicus 9.7
1473 htlv-1 associated myelopathy/tropical spastic paraparesis 9.7
1474 human t-cell leukemia virus type 1 9.7
1475 immunoglobulin g deficiency 9.7
1476 lymphomatous thyroiditis 9.7
1477 perilymphatic fistula 9.7
1478 polymyositis 9.7
1479 pontine hemorrhage 9.7
1480 primary angiitis of the central nervous system 9.7
1481 progressive encephalomyelitis with rigidity and myoclonus 9.7
1482 pseudobulbar affect 9.7
1483 rosai-dorfman disease 9.7
1484 splenomegaly 9.7
1485 thrombasthenia 9.7
1486 tuberculous meningitis 9.7
1487 west nile virus infection 9.7
1488 aneurysm 9.7
1489 extrapontine myelinolysis 9.7
1490 foot drop 9.7
1491 megalencephaly 9.7
1492 myotonia 9.7
1493 spinal cord injury 9.7
1494 whiplash 9.7
1495 b-cell non-hodgkin lymphoma 9.7
1496 perioral myoclonia with absences 9.7
1497 isolated dystonia 9.7
1498 autosomal dominant progressive external ophthalmoplegia 9.7
1499 periodic paralysis 9.7
1500 spontaneous intracranial hypotension 9.7
1501 non-specific syndromic intellectual disability 9.7
1502 rare tumor 9.7
1503 polyendocrinopathy 9.7
1504 abducens palsy 9.5
1505 neurofibromatosis, type ii 9.5
1506 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.5
1507 anisocoria 9.5
1508 apnea, obstructive sleep 9.5
1509 blue rubber bleb nevus 9.5
1510 breast cancer-related regulator of tp53 9.5
1511 sotos syndrome 1 9.5
1512 charcot-marie-tooth disease, demyelinating, type 1b 9.5
1513 cleft palate, isolated 9.5
1514 coproporphyria, hereditary 9.5
1515 major affective disorder 1 9.5
1516 dystonia 1, torsion, autosomal dominant 9.5
1517 dystonia, dopa-responsive 9.5
1518 camurati-engelmann disease 9.5
1519 esophageal cancer 9.5
1520 fibromuscular dysplasia 9.5
1521 gilles de la tourette syndrome 9.5
1522 hyperglycinuria 9.5
1523 myhre syndrome 9.5
1524 hand skill, relative 9.5
1525 hemifacial atrophy, progressive 9.5
1526 hemifacial spasm, familial 9.5
1527 spondyloepiphyseal dysplasia with congenital joint dislocations 9.5
1528 hypertension, essential 9.5
1529 hypertrophia musculorum vera 9.5
1530 inclusion body myositis 9.5
1531 keratitis, hereditary 9.5
1532 laryngeal abductor paralysis 9.5
1533 leiomyoma, uterine 9.5
1534 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 9.5
1535 lymphatic malformation 5 9.5
1536 macular degeneration, age-related, 2 9.5
1537 monilethrix 9.5
1538 myotonic dystrophy 1 9.5
1539 night blindness, congenital stationary, autosomal dominant 2 9.5
1540 obsessive-compulsive disorder 9.5
1541 oculopharyngeal muscular dystrophy 9.5
1542 paramyotonia congenita of von eulenburg 9.5
1543 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.5
1544 hypokalemic periodic paralysis, type 1 9.5
1545 pheochromocytoma 9.5
1546 polykaryocytosis inducer 9.5
1547 polyposis, gastric 9.5
1548 prader-willi syndrome 9.5
1549 hutchinson-gilford progeria syndrome 9.5
1550 pulmonary fibrosis, idiopathic 9.5
1551 pulmonary hypertension, primary, 1 9.5
1552 retinitis pigmentosa 1 9.5
1553 scheuermann disease 9.5
1554 scleroderma, familial progressive 9.5
1555 neural tube defects 9.5
1556 spondylosis, cervical 9.5
1557 steatocystoma multiplex 9.5
1558 supravalvular aortic stenosis 9.5
1559 chromosome 2q35 duplication syndrome 9.5
1560 syringomyelia, noncommunicating isolated 9.5
1561 trigeminal neuralgia 9.5
1562 triiodothyronine receptor auxiliary protein 9.5
1563 down syndrome 9.5
1564 suppressor of tumorigenicity 3 9.5
1565 varicose veins 9.5
1566 cardiomyopathy, familial hypertrophic, 1 9.5
1567 williams-beuren syndrome 9.5
1568 wolff-parkinson-white syndrome 9.5
1569 choreoacanthocytosis 9.5
1570 short-limb skeletal dysplasia with severe combined immunodeficiency 9.5
1571 anemia, hypochromic microcytic, with iron overload 1 9.5
1572 takayasu arteritis 9.5
1573 argininosuccinic aciduria 9.5
1574 seckel syndrome 1 9.5
1575 cerebelloparenchymal disorder ii 9.5
1576 bile acid synthesis defect, congenital, 4 9.5
1577 cohen syndrome 9.5
1578 macular dystrophy, corneal 9.5
1579 cranioectodermal dysplasia 1 9.5
1580 cryptorchidism, unilateral or bilateral 9.5
1581 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 9.5
1582 diastematomyelia 9.5
1583 dicarboxylic aminoaciduria 9.5
1584 sucrase-isomaltase deficiency, congenital 9.5
1585 neuropathy, hereditary sensory and autonomic, type iii 9.5
1586 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 9.5
1587 enterocolitis 9.5
1588 epidermolysis bullosa dystrophica, autosomal recessive 9.5
1589 kohlschutter-tonz syndrome 9.5
1590 fanconi anemia, complementation group c 9.5
1591 galactosemia i 9.5
1592 gm1-gangliosidosis, type iii 9.5
1593 perrault syndrome 1 9.5
1594 factor xii deficiency 9.5
1595 trichothiodystrophy 4, nonphotosensitive 9.5
1596 heart block, congenital 9.5
1597 hepatic venoocclusive disease with immunodeficiency 9.5
1598 homocystinuria due to cystathionine beta-synthase deficiency 9.5
1599 intracranial hypertension, idiopathic 9.5
1600 jejunal atresia 9.5
1601 krabbe disease 9.5
1602 kuru 9.5
1603 mannosidosis, beta a, lysosomal 9.5
1604 maple syrup urine disease 9.5
1605 megalencephaly with dysmyelination 9.5
1606 megalocornea 9.5
1607 melanosis, neurocutaneous 9.5
1608 microcephaly 1, primary, autosomal recessive 9.5
1609 monosomy 7 of bone marrow 9.5
1610 spinal muscular atrophy, type i 9.5
1611 myasthenia gravis 9.5
1612 mycosis fungoides 9.5
1613 neuroblastoma 1 9.5
1614 olivopontocerebellar atrophy ii, autosomal recessive 9.5
1615 osteoid osteoma 9.5
1616 d-bifunctional protein deficiency 9.5
1617 scott syndrome 9.5
1618 polycythemia vera 9.5
1619 gitelman syndrome 9.5
1620 pulmonic stenosis 9.5
1621 skin/hair/eye pigmentation, variation in, 2 9.5
1622 reticulum cell sarcoma 9.5
1623 autoimmune polyendocrine syndrome, type ii 9.5
1624 thrombocytopenia 3 9.5
1625 xeroderma pigmentosum, complementation group c 9.5
1626 de sanctis-cacchione syndrome 9.5
1627 coats disease 9.5
1628 lubs x-linked mental retardation syndrome 9.5
1629 muscular dystrophy, becker type 9.5
1630 agammaglobulinemia, x-linked 9.5
1631 charcot-marie-tooth disease, x-linked dominant, 1 9.5
1632 occipital horn syndrome 9.5
1633 ichthyosis, x-linked 9.5
1634 immunodeficiency with hyper-igm, type 1 9.5
1635 leber optic atrophy 9.5
1636 retinitis pigmentosa 2 9.5
1637 taqi polymorphism 9.5
1638 retinitis pigmentosa-deafness syndrome 9.5
1639 cyclic vomiting syndrome 9.5
1640 deafness, nonsyndromic sensorineural, mitochondrial 9.5
1641 chloramphenicol toxicity 9.5
1642 hereditary motor and sensory neuropathy v 9.5
1643 pituitary adenoma, prolactin-secreting 9.5
1644 suppression of tumorigenicity 12 9.5
1645 acute insulin response 9.5
1646 gomez-lopez-hernandez syndrome 9.5
1647 body mass index quantitative trait locus 9 9.5
1648 parkinson disease 3, autosomal dominant 9.5
1649 amyotrophic lateral sclerosis 4, juvenile 9.5
1650 myotonic dystrophy 2 9.5
1651 body mass index quantitative trait locus 8 9.5
1652 polydactyly 9.5
1653 huntington disease-like 3 9.5
1654 paragangliomas 3 9.5
1655 abdominal obesity-metabolic syndrome 1 9.5
1656 huntington disease-like 2 9.5
1657 polysubstance abuse 9.5
1658 lig4 syndrome 9.5
1659 kufor-rakeb syndrome 9.5
1660 gastrointestinal stromal tumor 9.5
1661 nasopharyngeal carcinoma 9.5
1662 lissencephaly 1 9.5
1663 body mass index quantitative trait locus 4 9.5
1664 body mass index quantitative trait locus 10 9.5
1665 epilepsy, idiopathic generalized 9 9.5
1666 seizures, benign familial infantile, 3 9.5
1667 dermatofibrosarcoma protuberans 9.5
1668 body mass index quantitative trait locus 7 9.5
1669 cardiomyopathy, familial hypertrophic, 10 9.5
1670 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 9.5
1671 tukel syndrome 9.5
1672 myopathy, myofibrillar, 5 9.5
1673 glycosylphosphatidylinositol biosynthesis defect 1 9.5
1674 combined oxidative phosphorylation deficiency 3 9.5
1675 dystonia, focal, task-specific 9.5
1676 major affective disorder 5 9.5
1677 major affective disorder 6 9.5
1678 riddle syndrome 9.5
1679 glut1 deficiency syndrome 2 9.5
1680 body mass index quantitative trait locus 12 9.5
1681 acute promyelocytic leukemia 9.5
1682 body mass index quantitative trait locus 14 9.5
1683 parkinson disease 14, autosomal recessive 9.5
1684 neuroblastoma 3 9.5
1685 hearing loss, noise-induced 9.5
1686 epileptic encephalopathy, early infantile, 11 9.5
1687 pontocerebellar hypoplasia, type 2d 9.5
1688 beta-thalassemia 9.5
1689 dyskeratosis congenita, autosomal dominant 3 9.5
1690 fanconi anemia, complementation group g 9.5
1691 neuropathy, hereditary sensory, type ie 9.5
1692 peroxisome biogenesis disorder 5b 9.5
1693 peroxisome biogenesis disorder 6a 9.5
1694 leptin deficiency or dysfunction 9.5
1695 epidermolysis bullosa, nonspecific, autosomal recessive 9.5
1696 body mass index quantitative trait locus 18 9.5
1697 pachyonychia congenita 3 9.5
1698 sting-associated vasculopathy, infantile-onset 9.5
1699 monocarboxylate transporter 1 deficiency 9.5
1700 perrault syndrome 5 9.5
1701 epilepsy, progressive myoclonic, 8 9.5
1702 striatal degeneration, autosomal dominant 2 9.5
1703 mirage syndrome 9.5
1704 body mass index quantitative trait locus 19 9.5
1705 chromosome 1p35 deletion syndrome 9.5
1706 phenytoin toxicity 9.5
1707 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.5
1708 body mass index quantitative trait locus 20 9.5
1709 juvenile arthritis 9.5
1710 speech and communication disorders 9.5
1711 angina pectoris 9.5
1712 stargardt disease 9.5
1713 west syndrome 9.5
1714 keshan disease 9.5
1715 secretory diarrhea 9.5
1716 usher syndrome 9.5
1717 epidemic typhus 9.5
1718 paralytic poliomyelitis 9.5
1719 seckel syndrome 9.5
1720 brachydactyly 9.5
1721 hypochromic microcytic anemia 9.5
1722 distal arthrogryposis 9.5
1723 vitelliform macular dystrophy 9.5
1724 alcohol-related neurodevelopmental disorder 9.5
1725 dyskinetic cerebral palsy 9.5
1726 brown-vialetto-van laere syndrome 9.5
1727 early onset absence epilepsy 9.5
1728 marginal zone b-cell lymphoma 9.5
1729 primary progressive multiple sclerosis 9.5
1730 persistent mullerian duct syndrome 9.5
1731 atrioventricular block 9.5
1732 renal fibrosis 9.5
1733 syndromic intellectual disability 9.5
1734 adrenal gland pheochromocytoma 9.5
1735 cervical neuroblastoma 9.5
1736 autoimmune disease of central nervous system 9.5
1737 interleukin-7 receptor alpha deficiency 9.5
1738 cd40 ligand deficiency 9.5
1739 cutaneous t cell lymphoma 9.5
1740 anosognosia 9.5
1741 mirror agnosia 9.5
1742 childhood spinal muscular atrophy 9.5
1743 jejunoileitis 9.5
1744 crohn's colitis 9.5
1745 cogan syndrome 9.5
1746 basal ganglia calcification 9.5
1747 spinal disease 9.5
1748 hereditary lymphedema i 9.5
1749 primary microcephaly 9.5
1750 muscular disease 9.5
1751 x-linked recessive disease 9.5
1752 intestinal pseudo-obstruction 9.5
1753 myoglobinuria 9.5
1754 hepatic veno-occlusive disease 9.5
1755 adenoid cystic carcinoma 9.5
1756 nodal marginal zone lymphoma 9.5
1757 mixed sleep apnea 9.5
1758 myofibrillar myopathy 9.5
1759 polycystic kidney disease 9.5
1760 benign teratoma 9.5
1761 syndromic microphthalmia 9.5
1762 urolithiasis 9.5
1763 type 1 diabetes mellitus 4 9.5
1764 mitochondrial complex iii deficiency 9.5
1765 sting-associated vasculopathy with onset in infancy 9.5
1766 nodular malignant melanoma 9.5
1767 cerebral artery occlusion 9.5
1768 xerophthalmia 9.5
1769 cholelithiasis 9.5
1770 dermatomyositis 9.5
1771 thalassemia 9.5
1772 endocarditis 9.5
1773 legionellosis 9.5
1774 common cold 9.5
1775 protein-losing enteropathy 9.5
1776 microphthalmia 9.5
1777 interstitial nephritis 9.5
1778 borderline personality disorder 9.5
1779 intracranial aneurysm 9.5
1780 cholesteatoma of middle ear 9.5
1781 corneal edema 9.5
1782 sarcoma 9.5
1783 epidural abscess 9.5
1784 pulmonary edema 9.5
1785 pyelonephritis 9.5
1786 mitral valve insufficiency 9.5
1787 listeriosis 9.5
1788 vitreous syneresis 9.5
1789 coronary artery vasospasm 9.5
1790 mononeuropathy 9.5
1791 gastroparesis 9.5
1792 esophagitis 9.5
1793 dysthymic disorder 9.5
1794 neurogenic bladder 9.5
1795 lymphocytic choriomeningitis 9.5
1796 dengue disease 9.5
1797 vogt-koyanagi-harada disease 9.5
1798 retroperitoneal sarcoma 9.5
1799 dysentery 9.5
1800 bell's palsy 9.5
1801 pseudobulbar palsy 9.5
1802 vestibular neuronitis 9.5
1803 migraine without aura 9.5
1804 hypochondriasis 9.5
1805 keratoconjunctivitis sicca 9.5
1806 vertebrobasilar insufficiency 9.5
1807 focal segmental glomerulosclerosis 9.5
1808 crescentic glomerulonephritis 9.5
1809 uveitis 9.5
1810 nodular goiter 9.5
1811 congenital toxoplasmosis 9.5
1812 ehlers-danlos syndrome 9.5
1813 scrub typhus 9.5
1814 diamond-blackfan anemia 9.5
1815 optic disk drusen 9.5
1816 cholestasis 9.5
1817 eclampsia 9.5
1818 obstructive jaundice 9.5
1819 patent foramen ovale 9.5
1820 achromatopsia 9.5
1821 alcoholic liver cirrhosis 9.5
1822 vestibular nystagmus 9.5
1823 acute retrobulbar neuritis 9.5
1824 oligospermia 9.5
1825 sclerosing cholangitis 9.5
1826 cerebral degeneration 9.5
1827 neuroleptic malignant syndrome 9.5
1828 argyll robertson pupil 9.5
1829 papilledema 9.5
1830 pleural disease 9.5
1831 normal pressure hydrocephalus 9.5
1832 endogenous depression 9.5
1833 lymphadenitis 9.5
1834 ventricular septal defect 9.5
1835 pineoblastoma 9.5
1836 heart septal defect 9.5
1837 histoplasmosis 9.5
1838 facial hemiatrophy 9.5
1839 conversion disorder 9.5
1840 calcinosis 9.5
1841 mononeuritis multiplex 9.5
1842 endodermal sinus tumor 9.5
1843 sphingolipidosis 9.5
1844 dysostosis 9.5
1845 bardet-biedl syndrome 9.5
1846 intermittent squint 9.5
1847 tularemia 9.5
1848 amelogenesis imperfecta 9.5
1849 spondylosis 9.5
1850 keratopathy 9.5
1851 leptospirosis 9.5
1852 craniosynostosis 9.5
1853 west nile encephalitis 9.5
1854 psychotic disorder 9.5
1855 granulomatous angiitis 9.5
1856 corneal dystrophy 9.5
1857 larynx cancer 9.5
1858 cystic teratoma 9.5
1859 myoepithelioma 9.5
1860 transitional cell carcinoma 9.5
1861 bilirubin metabolic disorder 9.5
1862 pyelitis 9.5
1863 glycogen storage disease 9.5
1864 bronchiolitis obliterans 9.5
1865 melancholia 9.5
1866 cryoglobulinemia 9.5
1867 newcastle disease 9.5
1868 bronchiolitis 9.5
1869 germ cell cancer 9.5
1870 substance abuse 9.5
1871 mucinous adenocarcinoma 9.5
1872 progressive muscular atrophy 9.5
1873 oligodendroglioma 9.5
1874 spinal cord disease 9.5
1875 central nervous system lymphoma 9.5
1876 chronic granulomatous disease 9.5
1877 syringomyelia 9.5
1878 central nervous system disease 9.5
1879 temporal lobe epilepsy 9.5
1880 fibrosarcoma 9.5
1881 mammary paget's disease 9.5
1882 necrobiosis lipoidica 9.5
1883 cellulitis 9.5
1884 mixed connective tissue disease 9.5
1885 ovarian gonadoblastoma 9.5
1886 toxic encephalopathy 9.5
1887 appendix adenocarcinoma 9.5
1888 kallmann syndrome 9.5
1889 angiolipoma 9.5
1890 aortic aneurysm 9.5
1891 congenital myasthenic syndrome 9.5
1892 empty sella syndrome 9.5
1893 intermittent claudication 9.5
1894 olfactory neuroblastoma 9.5
1895 skin disease 9.5
1896 craniopharyngioma 9.5
1897 colonic pseudo-obstruction 9.5
1898 insulinoma 9.5
1899 bladder urothelial carcinoma 9.5
1900 gastritis 9.5
1901 mouth disease 9.5
1902 myxosarcoma 9.5
1903 differentiating neuroblastoma 9.5
1904 systemic scleroderma 9.5
1905 pseudohypoparathyroidism 9.5
1906 hypertrichosis 9.5
1907 cerebellum cancer 9.5
1908 hair disease 9.5
1909 spindle cell sarcoma 9.5
1910 gait apraxia 9.5
1911 akinetic mutism 9.5
1912 seminoma 9.5
1913 macular retinal edema 9.5
1914 rhinitis 9.5
1915 hypokalemia 9.5
1916 angiokeratoma 9.5
1917 benign ependymoma 9.5
1918 prosopagnosia 9.5
1919 cellular leiomyoma 9.5
1920 borna disease 9.5
1921 pleural cancer 9.5
1922 ureteral obstruction 9.5
1923 intestinal disease 9.5
1924 anterograde amnesia 9.5
1925 hemoglobin e disease 9.5
1926 scrapie 9.5
1927 cellular ependymoma 9.5
1928 eye disease 9.5
1929 hereditary breast ovarian cancer syndrome 9.5
1930 eosinophilic pneumonia 9.5
1931 brown-sequard syndrome 9.5
1932 conjunctivitis 9.5
1933 follicular adenoma 9.5
1934 ovary papillary carcinoma 9.5
1935 pulmonary valve stenosis 9.5
1936 cowden syndrome 9.5
1937 connective tissue disease 9.5
1938 juvenile rheumatoid arthritis 9.5
1939 hepatoblastoma 9.5
1940 peptic ulcer disease 9.5
1941 childhood leukemia 9.5
1942 petroclival meningioma 9.5
1943 end stage renal disease 9.5
1944 chronic kidney disease 9.5
1945 carotid artery occlusion 9.5
1946 neuronitis 9.5
1947 osteochondrosis 9.5
1948 polycythemia 9.5
1949 intestinal obstruction 9.5
1950 influenza 9.5
1951 localized scleroderma 9.5
1952 whipple disease 9.5
1953 arthritis 9.5
1954 impetigo 9.5
1955 collagen disease 9.5
1956 malignant hyperthermia 9.5
1957 multiple carboxylase deficiency 9.5
1958 crohn's disease 9.5
1959 actinic keratosis 9.5
1960 molluscum contagiosum 9.5
1961 neuromyelitis optica 9.5
1962 rosacea 9.5
1963 dermatophytosis 9.5
1964 degenerative disc disease 9.5
1965 zellweger syndrome 9.5
1966 macroglobulinemia 9.5
1967 visceral leishmaniasis 9.5
1968 erythromelalgia 9.5
1969 homocystinuria 9.5
1970 scotoma 9.5
1971 viral infectious disease 9.5
1972 exophthalmos 9.5
1973 acute myocardial infarction 9.5
1974 hypertensive encephalopathy 9.5
1975 cholangitis 9.5
1976 chronic eosinophilic pneumonia 9.5
1977 lassa fever 9.5
1978 primary ciliary dyskinesia 9.5
1979 neurofibroma 9.5
1980 stomatitis 9.5
1981 babesiosis 9.5
1982 yellow fever 9.5
1983 hypertropia 9.5
1984 congenital syphilis 9.5
1985 null-cell leukemia 9.5
1986 muscular dystrophy, duchenne and becker type 9.5
1987 15q duplication syndrome and related disorders 9.5
1988 atp8b1 deficiency 9.5
1989 c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia 9.5
1990 chchd10-related disorders 9.5
1991 classic galactosemia and clinical variant galactosemia 9.5
1992 dnmt1-related disorder 9.5
1993 dysferlinopathy 9.5
1994 familial paroxysmal nonkinesigenic dyskinesia 9.5
1995 gjb1 disorders: charcot marie tooth neuropathy and central nervous system phenotypes 9.5
1996 hypermobile ehlers-danlos syndrome 9.5
1997 malignant hyperthermia susceptibility 9.5
1998 nonsyndromic hearing loss and deafness, mitochondrial 9.5
1999 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 9.5
2000 rab18 deficiency 9.5
2001 scn8a-related epilepsy with encephalopathy 9.5
2002 slc39a14 deficiency 9.5
2003 stxbp1 encephalopathy with epilepsy 9.5
2004 spastic paraplegia 3a 9.5
2005 tubulinopathies 9.5
2006 acardia 9.5
2007 alien hand syndrome 9.5
2008 arbovirosis 9.5
2009 chromosome 8q duplication 9.5
2010 coloboma of iris 9.5
2011 congenital cytomegalovirus 9.5
2012 congenital hepatic fibrosis 9.5
2013 congenital muscular dystrophy due to dystroglycanopathy 9.5
2014 dyt-thap1 9.5
2015 enteropathy-associated t-cell lymphoma 9.5
2016 erythrokeratoderma ''en cocardes'' 9.5
2017 exencephaly 9.5
2018 fetal methylmercury syndrome 9.5
2019 hereditary amyloidosis 9.5
2020 hhv-6 encephalitis 9.5
2021 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 9.5
2022 ichthyosis lamellar 1 9.5
2023 juvenile amyotrophic lateral sclerosis 9.5
2024 leukoplakia 9.5
2025 lymphangiectasis 9.5
2026 lymphocytic hypophysitis 9.5
2027 marinesco-sjogren-like syndrome 9.5
2028 mitochondrial dna-associated leigh syndrome 9.5
2029 mycobacterium gordonae 9.5
2030 nodular regenerative hyperplasia 9.5
2031 oral leukoplakia 9.5
2032 pachygyria 9.5
2033 paraneoplastic neurologic disorders 9.5
2034 primary central nervous system lymphoma 9.5
2035 primary orthostatic hypotension 9.5
2036 primary orthostatic tremor 9.5
2037 retroperitoneal fibrosis 9.5
2038 sandifer syndrome 9.5
2039 spastic paraplegia 10 9.5
2040 spastic paraplegia 9 9.5
2041 supraglottic laryngeal cancer 9.5
2042 testicular seminoma 9.5
2043 trichothiodystrophy 9.5
2044 virus associated hemophagocytic syndrome 9.5
2045 nonsyndromic hearing loss 9.5
2046 angiomatosis 9.5
2047 anoxia 9.5
2048 back pain 9.5
2049 cerebral hypoxia 9.5
2050 cytomegalovirus infection 9.5
2051 hemifacial spasm 9.5
2052 hydromyelia 9.5
2053 hypoxia 9.5
2054 mucopolysaccharidoses 9.5
2055 neuronal migration disorders 9.5
2056 ohtahara syndrome 9.5
2057 pituitary tumors 9.5
2058 psychogenic movement 9.5
2059 subcortical arteriosclerotic encephalopathy 9.5
2060 syncope 9.5
2061 paroxysmal dystonia 9.5
2062 progeroid syndrome 9.5
2063 neurotrophic keratopathy 9.5
2064 rapidly involuting congenital hemangioma 9.5
2065 hemophagocytic syndrome associated with an infection 9.5
2066 isolated aniridia 9.5
2067 neural tube closure defect 9.5
2068 syndromic microphthalmia-anophthalmia-coloboma 9.5
2069 progressive muscular dystrophy 9.5
2070 qualitative or quantitative defects of dysferlin 9.5
2071 specific language disorder 9.5
2072 mitochondrial disease with epilepsy 9.5
2073 qualitative or quantitative defects of alpha-dystroglycan 9.5
2074 ciliopathy 9.5
2075 aggressive b-cell non-hodgkin lymphoma 9.5
2076 refractory celiac disease 9.5
2077 undetermined early-onset epileptic encephalopathy 9.5
2078 mitochondrial neurogastrointestinal encephalomyopathy 9.5
2079 multifocal atrial tachycardia 9.5
2080 benign idiopathic neonatal seizures 9.5
2081 pneumococcal meningitis 9.5
2082 disorder of bile acid synthesis 9.5
2083 cancer-associated retinopathy 9.5
2084 benign paroxysmal torticollis of infancy 9.5
2085 pik3ca-related overgrowth syndrome 9.5
2086 rare genetic skin disease 9.5
2087 lysosomal disease 9.5
2088 diffuse alveolar hemorrhage 9.5
2089 hypopigmentation of the skin 9.5
2090 hepatosplenic t-cell lymphoma 9.5
2091 chronic encephalitis 9.5
2092 infantile epilepsy syndrome 9.5
2093 infectious encephalitis 9.5
2094 postinfectious encephalitis 9.5
2095 primary hypophysitis 9.5
2096 mills syndrome 9.5
2097 lysosomal storage disease with skeletal involvement 9.5
2098 juvenile nephronophthisis 9.5
2099 acute motor axonal neuropathy 9.5
2100 acute motor and sensory axonal neuropathy 9.5
2101 syndromic rod-cone dystrophy 9.5
2102 rare movement disorder 9.5

Graphical network of the top 20 diseases related to Ataxia and Polyneuropathy, Adult-Onset:



Diseases related to Ataxia and Polyneuropathy, Adult-Onset

Symptoms & Phenotypes for Ataxia and Polyneuropathy, Adult-Onset

Clinical features from OMIM:

500010

Drugs & Therapeutics for Ataxia and Polyneuropathy, Adult-Onset

Drugs for Ataxia and Polyneuropathy, Adult-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 363, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Clonidine Approved Phase 4 4205-90-7 2803
3
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Citalopram Approved Phase 4 59729-33-8 2771