MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Refsum Disease

(UMLS:C0034960)

Definition:: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
UMLS ID:: C0034960
MeSH ID:: D012035

Classification 1:

Name:

Nervous System Diseases
MeSH Tree Number(s):: C10.228.140.163.100.813|C10.500.300.780|C10.574.500.495.780|C10.668.829.800.300.780

Classification 2:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.131.666.300.780|C16.320.400.375.780|C16.320.565.189.813|C16.320.565.663.760

Classification 3:

Name:

Nutritional and Metabolic Diseases
MeSH Tree Number(s):: C18.452.132.100.813|C18.452.648.189.813|C18.452.648.663.760

Synonym(s)

Refsum Disease

HEREDOPATHIA ATACTICA POLYNEURITIFORMIS

HSMN IV

Hereditary motor and sensory neuropathy type IV

Hereditary motor and sensory neuropathy, type IV

Hereditary sensory-motor neuropathy, type 4

Hereditary sensory-motor neuropathy, type IV

Heredoataxia hemeralopica polyneuritiformis

Heredoataxic atactica polyneuritiformis

10.

Heredoataxic hemeralopica polyneuritiformis

11.

Heredopathia atactica polyneuritiformis

12.

NEUROPATHY, HYPERTROPHIC OF REFSUM

13.

PHYTANIC ACID STORAGE DISEASE

14.

Phytanic acid excess syndrome

15.

Phytanic acid storage disease

16.

REFSUM DISEASE, CLASSIC

Associated Drug(s)

	Name	Number of Reports	Reference(s)	Data Source
1	Orlistat		20871815	CTD
2	Phytanic Acid		12522768 20871815	CTD

Similar ADE(s)

	Name	Semantic Similarity
1	Adrenoleukodystrophy	59.1%
2	Hepatolenticular Degeneration	52.6%
3	Galactosemias	47.4%
4	Urea Cycle Disorders, Inborn	47.4%
5	Tyrosinemias	47.4%
6	Menkes Kinky Hair Syndrome	46.7%
7	Leigh Disease	46.5%
8	Zellweger Syndrome	46.4%
9	Homocystinuria	41.8%
10	Glycogen storage disease type II	40.5%
11	Alstrom Syndrome	40.5%
12	Canavan Disease	39.3%
13	Alexander Disease	39.3%
14	Carbamoyl-Phosphate Synthase I Deficiency Disease	38.4%
15	Charcot-Marie-Tooth Disease	37.9%
16	Fabry Disease	35.6%
17	MELAS Syndrome	34.3%
18	Gaucher Disease	34.2%
19	Smith-Lemli-Opitz Syndrome	33.5%
20	Amyloid Neuropathies, Familial	33.4%
21	Niemann-Pick Disease, Type C	29.1%
22	Tay-Sachs Disease	28.8%
23	Neuronal Ceroid-Lipofuscinoses	28.8%
24	Hyperphosphaturia	28.3%
25	Cockayne Syndrome	28.2%
26	Mucopolysaccharidosis II	26.9%
27	Amino Acid Metabolism, Inborn Errors	26.2%
28	Carbohydrate Metabolism, Inborn Errors	26.2%
29	Metal Metabolism, Inborn Errors	26.2%
30	Progeria	26.2%
31	Lysosomal Storage Diseases	26.2%
32	Pseudohypoparathyroidism	25.2%
33	Aicardi's syndrome	25.1%
34	Ichthyosis, X-Linked	25%
35	Tuberous Sclerosis	24.9%
36	Albinism	23.6%
37	Familial Hypophosphatemic Rickets	22.5%
38	Myotonic Dystrophy	21.8%
39	Hyperhomocysteinemia	21.7%
40	Dystonia Musculorum Deformans	21.6%
41	Holoprosencephaly	21.3%
42	Mucopolysaccharidosis III	21.1%
43	Lactose Intolerance	20.9%
44	Dandy-Walker Syndrome	20.8%
45	Huntington Disease	20.6%
46	Refsum Disease	20.5%
47	Myelinolysis, Central Pontine	20.5%
48	Ataxia Telangiectasia	20.3%
49	Hypolipoproteinemias	20.3%
50	Cytochrome-c Oxidase Deficiency	20.2%
51	Sjogren-Larsson Syndrome	20.1%
52	Hyperlipoproteinemia Type IV	19.8%
53	Hyperlipoproteinemia Type V	19.8%
54	Friedreich Ataxia	19.8%
55	Mitochondrial Encephalomyopathies	19.6%
56	Werner Syndrome	19.3%
57	Hyperlipidemia, Familial Combined	19.2%
58	Lafora Disease	19%
59	Unverricht-Lundborg Syndrome	19%
60	Brain Diseases, Metabolic, Inborn	18.9%
61	Familial Periodic Paralysis	18.9%
62	Smith-Magenis syndrome	18.7%
63	Hyperlipoproteinemia Type III	18.7%
64	Optic Atrophy, Hereditary, Leber	18.1%
65	Myotonia Congenita	18%
66	Amyotrophic Lateral Sclerosis	17.9%
67	Renal tubular acidosis	17.7%
68	Alkaptonuria	17.4%
69	Glycogen Storage Disease	17.4%
70	Hypophosphatasia	17.4%
71	Propionic acidemia	17.4%
72	Dihydropyrimidine Dehydrogenase Deficiency	17.4%
73	Cystinosis	17.4%
74	Fragile X Syndrome	17.3%
75	Kartagener Syndrome	16.9%
76	Myasthenic Syndromes, Congenital	16.8%
77	Antley-Bixler Syndrome Phenotype	16.5%
78	Multiple System Atrophy	16.5%
79	Prader-Willi Syndrome	16.2%
80	Central Nervous System Cysts	16.1%
81	Dural Arteriovenous Fistula	16.1%
82	Cri-du-Chat Syndrome	16%
83	Down Syndrome	16%
84	Trisomy 21	16%
85	CHARGE Syndrome	15.9%
86	Glycosuria, Renal	15.7%
87	Reye Syndrome	15.7%
88	Peroxisomal Disorders	15.7%
89	Hepatic Encephalopathy	15.7%
90	Hydranencephaly	15.5%
91	Neural Tube Defects	15.5%
92	Tethered Cord Syndrome	15.5%
93	Iniencephaly	15.5%
94	Craniorachischisis	15.5%
95	Exencephaly	15.5%
96	Septo-Optic Dysplasia	15.5%
97	Cortical Dysplasia	15.5%
98	Malformations of Cortical Development	15.5%
99	Rubinstein-Taybi Syndrome	15.5%
100	Cystic Fibrosis	15.5%
101	Kernicterus	15.4%
102	Beckwith-Wiedemann Syndrome	15.3%
103	Wolf-Hirschhorn Syndrome	15.3%
104	Hypoalphalipoproteinemias	15.2%
105	Wasting Syndrome	15.1%
106	Polyradiculoneuropathy	15.1%
107	Polyradiculoneuritis	15.1%
108	Renal Aminoacidurias	15%
109	Fanconi Syndrome	15%
110	Pseudohypoaldosteronism	15%
111	Liddle Syndrome	15%
112	Nail-Patella Syndrome	14.9%
113	Motor Neuron Disease	14.9%
114	Muscular Dystrophy, Duchenne	14.7%
115	Marfan Syndrome	14.6%
116	Classical Lissencephalies and Subcortical Band Heterotopias	14.6%
117	Wernicke Encephalopathy	14.5%
118	Stiff-Person Syndrome	14.4%
119	Subacute Combined Degeneration	14.4%
120	Guillain-Barre Syndrome	14.4%
121	Gout	14.3%
122	Lewy Body Disease	14.2%
123	Muscular Dystrophy	14.2%
124	Hypokalemic periodic paralysis	13.7%
125	Hypercalcemia	13.5%
126	Hypocalcemia	13.5%
127	Milk-Alkali Syndrome	13.5%
128	Ectodermal Dysplasia	13.4%
129	Aplasia Cutis Congenita	13.4%
130	Anencephaly	13.4%
131	Meningoencephalitis	13.4%
132	Miller Fisher Syndrome	13.2%
133	Glycogen Storage Disease Type I	13%
134	Glycogen Storage Disease Type V	13%
135	Anemia, Sickle Cell	13%
136	Thalassemia	13%
137	Xeroderma Pigmentosum	13%
138	Neoplastic Syndromes, Hereditary	12.7%
139	Multiple Epiphyseal Dysplasia	12.5%
140	Osteochondrodysplasias	12.5%
141	Pelger-Huet Anomaly	12.5%
142	Lipodystrophy	12.5%
143	Rickets	12.5%
144	Rett Syndrome	12.4%
145	Porphyrias, Hepatic	12.4%
146	Fanconi Anemia	12.3%
147	Parkinson Disease	12.3%
148	Marchiafava-Bignami Disease	12.2%
149	Progressive supranuclear palsy	12.2%
150	Congenital Hyperinsulinism	12.2%
151	Acid-Base Imbalance	12.2%
152	Calcium Metabolism Disorders	12.2%
153	Iron Metabolism Disorders	12.2%
154	Phosphorus Metabolism Disorders	12.2%
155	Water-Electrolyte Imbalance	12.2%
156	Lipid Metabolism Disorders	12.2%
157	Mitochondrial Diseases	12.2%
158	Glucose Metabolism Disorders	12.2%
159	Williams Syndrome	12.1%
160	Spinal Muscular Atrophy	12.1%
161	Progressive Muscular Atrophy	12.1%
162	Ophthalmoplegic Migraine	11.9%
163	Dwarfism	11.8%
164	Prion Diseases	11.8%
165	Complex Regional Pain Syndromes	11.8%
166	Pneumocephalus	11.7%
167	Ocular Motility Disorders	11.6%
168	Cyclophoria	11.6%
169	Osteogenesis Imperfecta	11.6%
170	Encephalomyelitis	11.5%
171	Restless Legs Syndrome	11.5%
172	Wiskott-Aldrich Syndrome	11.5%
173	Osteopenia	11.3%
174	Kallmann Syndrome	11.3%
175	Cystinuria	11.2%
176	Bloom Syndrome	11.2%
177	Poliomyelitis	11%
178	Peripheral Nerve Injuries	11%
179	Autoimmune Lymphoproliferative Syndrome	10.9%
180	Myelitis, Transverse	10.9%
181	Mobius Syndrome	10.9%
182	Dementia, Vascular	10.8%
183	Angioedemas, Hereditary	10.8%
184	Causalgia	10.6%
185	Arthritis, Gouty	10.6%
186	Lambert-Eaton Myasthenic Syndrome	10.6%
187	Striatonigral Degeneration	10.5%
188	Leukoencephalitis, Acute Hemorrhagic	10.4%
189	Polycystic Kidney Diseases	10.4%
190	Mitochondrial Myopathies	10.3%
191	Leukoencephalopathy, Progressive Multifocal	10.2%
192	Chronic Fatigue Syndrome	10.2%
193	POEMS Syndrome	10.2%
194	Opsoclonus-Myoclonus Syndrome	10%
195	Meningomyelocele	10%
196	Spina Bifida	10%
197	Leukomalacia, Periventricular	9.9%
198	Shy-Drager Syndrome	9.9%
199	Brain Diseases, Metabolic	9.9%
200	Retinal Dysplasia	9.9%
201	Cranial nerve diseases	9.9%
202	Demyelinating Diseases	9.9%
203	Demyelination	9.9%
204	Chronobiology Disorders	9.9%
205	Aniridia	9.9%
206	Epidermolysis Bullosa	9.8%
207	Epidural Abscess	9.7%
208	Lupus Vasculitis, Central Nervous System	9.7%
209	Brain Abscess	9.6%
210	Polyradiculoneuropathy, Chronic Inflammatory Demyelinating	9.5%
211	Subdural Effusion	9.5%
212	Primary Ciliary Dyskinesia	9.3%
213	Limbic Encephalitis	9.3%
214	Kearns-Sayre syndrome	9.3%
215	Meningocele	9.3%
216	Encephalocele	9.3%
217	Trauma, Nervous System	9.3%
218	Duane Retraction Syndrome	9.2%
219	Cauda Equina Syndrome	9.2%
220	Fetal Diseases	9.2%
221	Nervous System Neoplasms	9.2%
222	Neurologic Manifestations	9.2%
223	Neurotoxicity Syndromes	9.2%
224	Brain Injuries	9%
225	Epilepsy, Post-Traumatic	9%
226	Brain Neoplasms	9%
227	Microcephaly	8.8%
228	Macrocephaly	8.8%
229	Welander Distal Myopathy	8.8%
230	Spinal Cord Injuries	8.7%
231	Progressive bulbar palsy	8.7%
232	Bulbar palsy	8.7%
233	Pseudoxanthoma Elasticum	8.7%
234	Myasthenia Gravis	8.6%
235	Asterixis	8.6%
236	Ballismus	8.6%
237	Neuroleptic Malignant Syndrome	8.6%
238	Sleep Wake Disorders	8.6%
239	Sickle Cell Trait	8.6%
240	Myelitis	8.5%
241	Parkinsonian Disorders	8.5%
242	Osteomalacia	8.5%
243	Brachial Plexus Neuritis	8.4%
244	Neuralgic Amyotrophy	8.4%
245	Nesidioblastosis	8.4%
246	Dyskinesia, Drug-Induced	8.3%
247	Xeroderma	8.3%
248	Meconium Aspiration Syndrome	8.2%
249	Variegate Porphyria	8.2%
250	Acute intermittent porphyria	8.2%
251	Porphyria Cutanea Tarda	8.2%
252	Neuromyelitis Optica	8.2%
253	Porencephaly	8.2%
254	Abnormalities, Drug-Induced	8.1%
255	Situs Inversus	8.1%
256	Tauopathies	8.1%
257	MPTP Poisoning	8.1%
258	Presenile dementia	8.1%
259	Senile dementia	8.1%
260	Familial Mediterranean Fever	8.1%
261	Acrodynia	8.1%
262	Frontotemporal dementia	8%
263	Botulism	8%
264	Autonomic Dysreflexia	8%
265	Meningitis	7.9%
266	Movement Disorders	7.9%
267	Pachymeningitis	7.9%
268	Spinal Cord Diseases	7.9%
269	Neuromuscular Junction Diseases	7.9%
270	Basal Ganglia Cerebrovascular Disease	7.9%
271	Basal Cell Nevus Syndrome	7.8%
272	Encephalomyelitis, Acute Disseminated	7.8%
273	Acute Chest Syndrome	7.7%
274	Eye Abnormalities	7.6%
275	Cardiovascular Abnormalities	7.6%
276	Brain Hemorrhage, Traumatic	7.6%
277	Amblyopia	7.6%
278	Akathisia, Drug-Induced	7.6%
279	Paraneoplastic Cerebellar Degeneration	7.6%
280	Skin Abnormalities	7.6%
281	Lymphatic Abnormalities	7.6%
282	Congenital Microtia	7.6%
283	Vasculitis, Central Nervous System	7.6%
284	Neuromuscular Diseases	7.5%
285	Congenital diaphragmatic hernia	7.5%
286	Cerebellar Neoplasms	7.5%
287	Deformity	7.4%
288	Nutrition Disorders	7.4%
289	Brain Death	7.4%
290	Central Nervous System Infection	7.4%
291	Myopathy	7.4%
292	HIV Wasting Syndrome	7.3%
293	Acidosis	7.3%
294	Akinetic Mutism	7.3%
295	Alkalosis	7.3%
296	Amyloidosis	7.3%
297	Anoxic Encephalopathy	7.3%
298	Basal Ganglia Diseases	7.3%
299	Brain Damage, Chronic	7.3%
300	Calcinosis	7.3%
301	Cerebellar Diseases	7.3%
302	Encephalitis	7.3%
303	Encephalomalacia	7.3%
304	Epilepsy	7.3%
305	Hydrocephalus	7.3%
306	Congenital Hydrocephalus	7.3%
307	Hyperglycemia	7.3%
308	Hyperinsulinism	7.3%
309	Hyperkalemia	7.3%
310	Hypernatremia	7.3%
311	Hypoglycemia	7.3%
312	Hypokalemia	7.3%
313	Hyponatremia	7.3%
314	Hypothalamic Diseases	7.3%
315	Neuritis	7.3%
316	Polyneuritis	7.3%
317	Radiculitis	7.3%
318	Thalamic Diseases	7.3%
319	Xanthomatosis	7.3%
320	Hypophosphatemia	7.3%
321	Intracranial Hypertension	7.3%
322	Metabolic acidosis	7.3%
323	Mononeuritis	7.3%
324	Aura	7.3%
325	Dyslipidemias	7.3%
326	Leukoencephalopathy	7.3%
327	Iron Overload	7.3%
328	Xanthoma	7.3%
329	Neuroaxonal Dystrophies	7.3%
330	Headache Disorders	7.3%
331	Mononeuropathies	7.3%
332	Intracranial Hypotension	7.3%
333	Brachial Plexus Neuropathies	7.3%
334	Radiculopathy	7.3%
335	Mononeuropathy Multiplex	7.3%
336	Nerve Root Compression	7.3%
337	Brain Edema	7.3%
338	Brain Hypoxia	7.3%
339	Aqueductal Stenosis	7.3%
340	Diabetic Ketoacidosis	7.3%
341	Turner Syndrome	7.2%
342	Reflex Sympathetic Dystrophy	7.2%
343	Dermal Sinus	7.2%
344	Spina Bifida Cystica	7.2%
345	Tarsal Tunnel Syndrome	7.2%
346	Spina Bifida Occulta	7.2%
347	Lissencephaly	7.2%
348	Polymicrogyria	7.2%
349	Pachygyria	7.2%
350	Schizencephaly	7.2%
351	Posterior Leukoencephalopathy Syndrome	7.2%
352	Periventricular Nodular Heterotopia	7.2%
353	Posterior reversible encephalopathy syndrome	7.2%
354	Urogenital Abnormalities	7.1%
355	Sleep Disorders, Circadian Rhythm	7.1%
356	Renal Osteodystrophy	7.1%
357	Renal rickets	7.1%
358	Paraneoplastic Encephalomyelitis	7%
359	Hyperkeratosis, Epidermolytic	7%
360	Cutis Laxa	7%
361	Retinitis Pigmentosa	7%
362	Pigmentary retinopathy	7%
363	Porokeratosis	7%
364	Keratoderma, Palmoplantar	7%
365	Meige Syndrome	6.9%
366	Cerebral Ventriculitis	6.9%
367	Chronic granulomatous disease	6.9%
368	Tetany	6.9%
369	Olfactory Nerve Injuries	6.9%
370	Polycystic Kidney, Autosomal Dominant	6.9%
371	Carotid Artery Injuries	6.8%
372	HIV-Associated Lipodystrophy Syndrome	6.8%
373	Diabetes Mellitus	6.8%
374	Cerebrovascular Disorders	6.8%
375	Dehydration	6.8%
376	Lipomatosis	6.8%
377	Water Intoxication	6.8%
378	Cerebrovascular Insufficiency	6.8%
379	Isaacs syndrome	6.8%
380	Dementia	6.8%
381	Scrapie	6.7%
382	Achlorhydria	6.7%
383	Diabetic Neuropathies	6.7%
384	Osteoporosis	6.7%
385	Bone Demineralization, Pathologic	6.7%
386	Diabetic Amyotrophy	6.7%
387	Diabetic Autonomic Neuropathy	6.7%
388	Post-Traumatic Osteoporosis	6.7%
389	Celiac Disease	6.7%
390	Neuralgia	6.7%
391	Sprue, Tropical	6.7%
392	Steatorrhea	6.7%
393	Sprue	6.7%
394	Neuropathic pain	6.7%
395	Spinal Cord Neoplasms	6.7%
396	Carpal Tunnel Syndrome	6.7%
397	Vascular Headaches	6.7%
398	Hypoxia-Ischemia, Brain	6.7%
399	Sciatica	6.7%
400	Myasthenia Gravis, Autoimmune, Experimental	6.7%
401	Amnesia, Transient Global	6.7%
402	Pituitary Adenoma	6.6%
403	Pituitary Neoplasms	6.6%
404	Maxillofacial Abnormalities	6.5%
405	Congenital nystagmus	6.5%
406	Peutz-Jeghers Syndrome	6.5%
407	Dextrocardia	6.5%
408	Thrombasthenia	6.5%
409	Antithrombin III Deficiency	6.5%
410	Protein C Deficiency	6.5%
411	Facial Nerve Injuries	6.5%
412	Toxoplasmosis, Congenital	6.5%
413	Meningitis, Bacterial	6.5%
414	Meningitis, Fungal	6.5%
415	Afibrinogenemia	6.5%
416	Factor VII Deficiency	6.5%
417	Factor X Deficiency	6.5%
418	Factor XII Deficiency	6.5%
419	Hemophilia A	6.5%
420	Activated Protein C Resistance	6.5%
421	Factor II deficiency	6.5%
422	Factor VIII Deficiency	6.5%
423	Factor V deficiency	6.5%
424	Factor XI Deficiency	6.5%
425	Hypoprothrombinemias	6.5%
426	Creutzfeldt-Jakob disease	6.5%
427	Toxoplasmosis, Cerebral	6.5%
428	Anemia, Diamond-Blackfan	6.5%
429	Hand-Arm Vibration Syndrome	6.4%
430	Basal Ganglia Hemorrhage	6.3%
431	Cerebral Amyloid Angiopathy	6.3%
432	Glycosuria	6.2%
433	Neuritis, Autoimmune, Experimental	6.2%
434	Multiple Endocrine Neoplasia	6.2%
435	Congenital Hypothyroidism	6.1%
436	Dermatitis, Atopic	6.1%
437	Abnormalities, Radiation-Induced	6.1%
438	Horner Syndrome	6.1%
439	Myoclonic Epilepsy	5.9%
440	Epilepsy, Temporal Lobe	5.9%
441	Epilepsy, Rolandic	5.9%
442	Benign Rolandic Epilepsy	5.9%
443	Klinefelter Syndrome	5.9%
444	Necrobiosis Lipoidica Diabeticorum	5.8%
445	Scimitar Syndrome	5.8%
446	Brain Injuries, Diffuse	5.8%
447	Traumatic Brain Injury	5.8%
448	Cerebellar Ataxia	5.8%
449	Supratentorial Neoplasms	5.8%
450	Behcet Syndrome	5.8%
451	Jet Lag Syndrome	5.7%
452	Multiple Sclerosis	5.6%
453	Cubital Tunnel Syndrome	5.5%
454	Acrocephalosyndactylia	5.5%
455	Tuberculosis, Meningeal	5.4%
456	Abdominal Cramps	5.4%
457	Amniotic Band Syndrome	5.4%
458	Asphyxia Neonatorum	5.4%
459	Dysautonomia	5.4%
460	Infant, Premature, Diseases	5.4%
461	Vagus Nerve Disorder	5.4%
462	Glossopharyngeal Neuralgia	5.4%
463	Infantile Colic	5.4%
464	Abducens Nerve Diseases	5.4%
465	Heavy Metal Poisoning, Nervous System	5.4%
466	Trochlear Nerve Diseases	5.4%
467	Polyradiculopathy	5.4%
468	Central Cord Syndrome	5.3%
469	Chorea	5.3%
470	Persistent Vegetative State	5.3%
471	Ophthalmoplegia	5.2%
472	External Ophthalmoplegia	5.2%
473	Pituitary Apoplexy	5.2%
474	Brain Infarction	5.2%
475	Putaminal Hemorrhage	5.1%
476	Nephroblastoma	5.1%
477	Optic Neuropathy	5.1%
478	Facial Nerve Diseases	5%
479	Craniocerebral Trauma	5%
480	Parasomnia	5%
481	Dyssomnias	5%
482	Vestibulocochlear Nerve Diseases	5%
483	Anemia, Neonatal	5%
484	Decerebrate State	5%
485	Hemiparesis	5%
486	Meningism	5%
487	Paresis	5%
488	Persistent Fetal Circulation Syndrome	5%
489	Seizures	5%
490	Sensation Disorders	5%
491	Central Nervous System Neoplasms	5%
492	Complex partial seizures	5%
493	Monoparesis	5%
494	Neurogenic Inflammation	5%
495	Gait Disorders, Neurologic	5%
496	Neuromuscular Manifestations	5%
497	Sweating, Gustatory	5%
498	Auriculotemporal Syndrome	5%
499	Umbilical hernia	5%
500	Nocturnal Myoclonus Syndrome	5%
501	Brain Concussion	4.9%
502	Vocal Cord Paralysis	4.9%
503	Infarction, Middle Cerebral Artery	4.9%
504	Infarction, Anterior Cerebral Artery	4.9%
505	Infarction, Posterior Cerebral Artery	4.9%
506	Hydrops Fetalis	4.9%
507	Craniosynostosis	4.9%
508	Syndactyly	4.9%
509	Brachycephaly	4.9%
510	Vertebral Artery Dissection	4.9%
511	Prune Belly Syndrome	4.9%
512	Twins, Conjoined	4.9%
513	Waardenburg Syndrome	4.9%
514	Adenomatous Polyposis Coli	4.8%
515	Acidosis, Lactic	4.8%
516	Calciphylaxis	4.8%
517	Hemosiderosis	4.8%
518	Ketosis	4.8%
519	Ketonuria	4.8%
520	Ketoacidosis	4.8%
521	Ketonemia	4.8%
522	Vascular calcification	4.8%
523	Alice in Wonderland Syndrome	4.8%
524	Subarachnoid Hemorrhage, Traumatic	4.8%
525	Carotid Artery, Internal, Dissection	4.8%
526	Auditory Perceptual Disorders	4.8%
527	Pupil Disorders	4.7%
528	Neurobehavioral Manifestations	4.7%
529	Neonatal Abstinence Syndrome	4.7%
530	Juvenile Myoclonic Epilepsy	4.7%
531	Myoclonic Epilepsies, Progressive	4.7%
532	Fetal Growth Retardation	4.7%
533	Uveomeningoencephalitic Syndrome	4.7%
534	Sturge-Weber Syndrome	4.7%
535	Vertigo	4.7%
536	Fetal Hypoxia	4.7%
537	Alcohol-Induced Disorders, Nervous System	4.7%
538	Fetal Alcohol Spectrum Disorders	4.7%
539	Syphilis, Congenital	4.6%
540	Cleft Palate	4.6%
541	Papillon-Lefevre Disease	4.6%
542	Subacute Sclerosing Panencephalitis	4.6%
543	Noonan Syndrome	4.6%
544	neurofibroma	4.6%
545	Optic Nerve Glioma	4.6%
546	Arachnoiditis	4.6%
547	Aseptic Meningitis	4.6%
548	Syringomyelia	4.6%
549	Essential Tremor	4.6%
550	Familial Tremor	4.6%
551	Pneumorrhachis	4.6%
552	Writer's Cramp	4.6%
553	Alcohol Withdrawal Seizures	4.6%
554	Cerebral Palsy	4.6%
555	Epilepsies, Partial	4.6%
556	Epilepsy, Generalized	4.6%
557	Pseudotumor Cerebri	4.6%
558	Sciatic Neuropathy	4.6%
559	Hypertensive Encephalopathy	4.6%
560	Ulnar Neuropathies	4.6%
561	Lesion of Sciatic Nerve	4.6%
562	Simple Partial Seizures	4.6%
563	Epilepsy, Reflex	4.6%
564	Ulnar Neuritis	4.6%
565	Radial nerve compression	4.6%
566	Radial Tunnel Syndrome	4.6%
567	Peroneal Neuropathies	4.6%
568	Radial Neuropathy	4.6%
569	Median Neuropathy	4.6%
570	Sciatic Nerve Palsy	4.6%
571	Femoral Neuropathy	4.6%
572	Tibial Neuropathy	4.6%
573	Ulnar Nerve Palsy	4.6%
574	Radial nerve palsy	4.6%
575	Headache Disorders, Primary	4.6%
576	Headache Disorders, Secondary	4.6%
577	Medication overuse headache	4.6%
578	Anophthalmos	4.5%
579	Anus, Imperforate	4.5%
580	Microphthalmos	4.5%
581	Limb Deformities, Congenital	4.5%
582	Craniofacial Abnormalities	4.5%
583	Anorectal Malformations	4.5%
584	Acidosis, Respiratory	4.5%
585	Adiposis Dolorosa	4.5%
586	Alkalosis, Respiratory	4.5%
587	Insulin Resistance	4.5%
588	Osteoporosis, Postmenopausal	4.5%
589	Voice Disorders	4.4%
590	Voice Disturbance	4.4%
591	Torticollis	4.4%
592	Chorioamnionitis	4.3%
593	Moyamoya Disease	4.3%
594	Giant Cell Arteritis	4.3%
595	Temporal Arteritis	4.3%
596	Cerebrospinal Fluid Otorrhea	4.3%
597	Cerebrospinal Fluid Rhinorrhea	4.3%
598	Gait Ataxia	4.3%
599	Pituitary Diseases	4.3%
600	Myositis	4.3%
601	Myotonic Disorders	4.3%
602	Central Nervous System Fungal Infections	4.3%
603	Conus Medullaris Syndrome	4.3%
604	Spinal Cord Vascular Diseases	4.3%
605	Thoracic Outlet Syndrome	4.3%
606	Carotid Artery Diseases	4.2%
607	Brain Ischemia	4.2%
608	Cerebrovascular accident	4.2%
609	Kluver-Bucy Syndrome	4.2%
610	Vasospasm, Intracranial	4.2%
611	Intracranial Arterial Diseases	4.2%
612	Blepharophimosis	4.2%
613	Laryngostenosis	4.2%
614	Mouth Abnormalities	4.2%
615	Gestational Diabetes	4.2%
616	Latent Autoimmune Diabetes in Adults	4.2%
617	Brain Diseases	4.2%
618	Peripheral Nervous System Diseases	4.2%
619	Esophageal Atresia	4.2%
620	Intestinal Atresia	4.2%
621	Horseshoe Kidney	4.2%
622	Pectus excavatum	4.2%
623	Diabetes Mellitus, Experimental	4.2%
624	Klippel-Feil Syndrome	4.2%
625	Gastroschisis	4.2%
626	Synostosis	4.2%
627	Acrodermatitis	4.2%
628	Lymphangiectasis, Intestinal	4.2%
629	Gianotti-Crosti Syndrome	4.2%
630	Nephrocalcinosis	4.2%
631	Diffuse Axonal Injury	4.1%
632	Brain Stem Neoplasms	4.1%
633	Meningitis, Cryptococcal	4.1%
634	Meningitis, Listeria	4.1%
635	Meningitis, Haemophilus	4.1%
636	Meningitis, Pneumococcal	4.1%
637	Child Nutrition Disorders	4.1%
638	Hypervitaminosis A	4.1%
639	Infant Nutrition Disorders	4.1%
640	Reflex, Abnormal	4.1%
641	Hyporeflexia	4.1%
642	Hyperreflexia	4.1%
643	Malnutrition	4.1%
644	Cerebral Infarction	4.1%
645	Brain Stem Infarctions	4.1%
646	Multiple Endocrine Neoplasia Type 1	4.1%
647	Denys-Drash Syndrome	4%
648	Akathisia	4%
649	Restlessness	4%
650	Psychomotor Agitation	4%
651	Jaw Abnormalities	4%
652	Fibromyalgia	4%
653	Central Nervous System Bacterial Infections	4%
654	Medial Tibial Stress Syndrome	4%
655	Arthrogryposis	4%
656	Choanal Atresia	4%
657	Tracheobronchomegaly	4%
658	Laryngocele	4%
659	Eosinophilia-Myalgia Syndrome	4%
660	Choledochal Cyst	3.9%
661	Hermaphroditism	3.9%
662	Disorders of Sex Development	3.9%
663	Coma, Post-Head Injury	3.9%
664	Intracranial Embolism and Thrombosis	3.9%
665	Cryptorchidism	3.9%
666	Hypospadias	3.9%
667	Primary amyloidosis	3.9%
668	Acoustic Neuroma	3.9%
669	Brain Contusion	3.9%
670	Ophthalmia Neonatorum	3.8%
671	Laryngomalacia	3.7%
672	Pectus carinatum	3.7%
673	Multiple Sclerosis, Chronic Progressive	3.7%
674	Multiple Sclerosis, Relapsing-Remitting	3.7%
675	Tardive Dyskinesia	3.7%
676	Bladder Exstrophy	3.7%
677	Epispadias	3.7%
678	Multicystic Dysplastic Kidney	3.7%
679	Gait Apraxia	3.6%
680	Hypercholesterolemia	3.6%
681	Hyperlipoproteinemias	3.6%
682	Hypertriglyceridemia	3.6%
683	Poland Syndrome	3.6%
684	West Nile Fever	3.6%
685	Lateral Medullary Syndrome	3.5%
686	Myalgia	3.5%
687	AIDS Dementia Complex	3.4%
688	CREST Syndrome	3.4%
689	Choroid Plexus Papilloma	3.3%
690	Hematoma, Subdural	3.3%
691	Hematoma, Epidural, Cranial	3.3%
692	Post-Traumatic Headache	3.2%
693	Tension Headache	3.2%
694	Epilepsy, Complex Partial	3.2%
695	Migraine Disorders	3.2%
696	Abdominal Migraine	3.2%
697	Status Migrainosus	3.2%
698	Cervicogenic Headache	3.2%
699	Micrognathism	3.1%
700	Pierre Robin Syndrome	3.1%
701	Neurofibrosarcoma	3.1%
702	Hyperandrogenism	3%
703	Optic Atrophy	3%
704	Optic Neuritis	3%
705	Papilledema	3%
706	Paralysis, Obstetric	3%
707	Retinopathy of Prematurity	3%
708	Strabismus	3%
709	Tolosa-Hunt Syndrome	3%
710	Arsenic Poisoning	3%
711	Empty Sella Syndrome	3%
712	Hyperpituitarism	3%
713	Hypopituitarism	3%
714	Hypophysitis	3%
715	Facial Injuries	3%
716	Facial Neuralgia	3%
717	Sleep Talking	3%
718	Manganese Poisoning	3%
719	Sleep Disorders, Intrinsic	3%
720	Orthostatic intolerance	3%
721	Amelia	3%
722	Anosmia	3%
723	Arachnodactyly	3%
724	Ataxia	3%
725	Athetosis	3%
726	Bronchopulmonary Dysplasia	3%
727	Catalepsy	3%
728	Dystonia	3%
729	Ectopia Cordis	3%
730	Ectromelia	3%
731	Hemimelia	3%
732	Hemiplegia	3%
733	Locked-In Syndrome	3%
734	Meningeal Neoplasms	3%
735	Muscle Hypertonia	3%
736	Muscle hypotonia	3%
737	Myoclonus	3%
738	Myotonia	3%
739	Paraplegia	3%
740	Phocomelia	3%
741	Pseudobulbar Palsy	3%
742	Quadriplegia	3%
743	Sirenomelia	3%
744	Spasm	3%
745	Spastic Paraplegia	3%
746	Status Epilepticus	3%
747	Taste Disorders	3%
748	Tremor	3%
749	Monoplegia	3%
750	Hypokinesia	3%
751	Polydactyly	3%
752	Paraparesis	3%
753	Brachydactyly	3%
754	Bradykinesia	3%
755	Waxy flexibility	3%
756	Action Tremor	3%
757	Resting Tremor	3%
758	Dysosmia	3%
759	Plagiocephaly	3%
760	Quadriparesis	3%
761	Lower Extremity Deformities, Congenital	3%
762	Mercury Poisoning, Nervous System	3%
763	Olfaction Disorders	3%
764	Myokymia	3%
765	Upper Extremity Deformities, Congenital	3%
766	Lead Poisoning, Nervous System	3%
767	Vestibular Neuronitis	3%
768	Somatosensory Disorders	3%
769	Single umbilical artery	3%
770	Hyperkinesia	3%
771	Intention tremor	3%
772	Cerebral Arterial Diseases	3%
773	Vertebrobasilar Insufficiency	3%
774	Basilar Artery Stenosis	3%
775	Vertebral Artery Stenosis	3%
776	Intracranial Hemorrhage, Hypertensive	3%
777	Transient Cerebral Ischemia	3%
778	Retrognathia	3%
779	Vision Disorders	2.8%
780	Metamorphopsia	2.8%
781	Visual Impairment	2.8%
782	Prognathism	2.8%
783	Respiratory Distress Syndrome, Newborn	2.8%
784	Optic Neuropathy, Ischemic	2.8%
785	Anterior Ischemic Optic Neuropathy	2.8%
786	Facial Hemiatrophy	2.8%
787	Melkersson-Rosenthal Syndrome	2.8%
788	Anisocoria	2.8%
789	Confusion	2.8%
790	Facial paralysis	2.8%
791	Lethargy	2.8%
792	Memory Disorders	2.8%
793	Muscle Cramp	2.8%
794	Perceptual Disorders	2.8%
795	Psychomotor Disorders	2.8%
796	Tonic Pupil	2.8%
797	Anhedonia	2.8%
798	Disorientation	2.8%
799	Facial Paresis	2.8%
800	Memory Loss	2.8%
801	Hemisensory Neglect	2.8%
802	Dysacusis	2.8%
803	Sleep Bruxism	2.8%
804	Aortic coarctation	2.8%
805	Cor Triatriatum	2.8%
806	Coronary Vessel Anomalies	2.8%
807	Dental Enamel Hypoplasia	2.8%
808	Patent ductus arteriosus	2.8%
809	Ebstein Anomaly	2.8%
810	Heart Septal Defects	2.8%
811	Hypodontia	2.8%
812	Macrostomia	2.8%
813	Microstomia	2.8%
814	Muscular Atrophy	2.8%
815	Respiratory Paralysis	2.8%
816	Tetralogy of Fallot	2.8%
817	Transposition of Great Vessels	2.8%
818	Hypoplastic Left Heart Syndrome	2.8%
819	May-Thurner Syndrome	2.8%
820	Craniofacial Dysostosis	2.8%
821	Carotid Stenosis	2.8%
822	Intracranial Aneurysm	2.8%
823	Wolff-Parkinson-White Syndrome	2.8%
824	Intracranial Arteriosclerosis	2.8%
825	Cerebral Atherosclerosis	2.8%
826	Subarachnoid Hemorrhage	2.8%
827	Cerebral Arteriosclerosis	2.8%
828	Cerebral Hemorrhage	2.8%
829	Cerebral Thrombosis	2.8%
830	Intracranial Embolism	2.8%
831	Intracranial Thrombosis	2.8%
832	Polymyositis	2.7%
833	Spinal Cord Ischemia	2.7%
834	Tuberculosis, Central Nervous System	2.7%
835	Hematoma, Subdural, Intracranial	2.7%
836	Hematoma, Subdural, Chronic	2.7%
837	Hematoma, Subdural, Acute	2.7%
838	Consciousness Disorders	2.6%
839	Mental Retardation	2.6%
840	Muscle Weakness	2.6%
841	Depressed Level of Consciousness	2.6%
842	Mental deficiency	2.6%
843	Intellectual Disability	2.6%
844	Bell Palsy	2.6%
845	Catatonia	2.6%
846	Herpes Zoster Oticus	2.6%
847	Aphonia	2.6%
848	Long QT Syndrome	2.6%
849	Platybasia	2.6%
850	Sleep Deprivation	2.6%
851	Tricuspid Atresia	2.6%
852	Arrhythmogenic Right Ventricular Dysplasia	2.6%
853	Dysphonia	2.6%
854	Gonadal Dysgenesis	2.6%
855	Bronchomalacia	2.6%
856	Adrenogenital Syndrome	2.6%
857	Tracheomalacia	2.6%
858	Ovotesticular Disorders of Sex Development	2.6%
859	Carotid Artery Thrombosis	2.6%
860	Polyneuropathy	2.6%
861	Orbital Myositis	2.6%
862	Cluster Headache	2.5%
863	Migraine with Aura	2.5%
864	Familial Hemiplegic Migraine	2.5%
865	Chronic Paroxysmal Hemicrania	2.5%
866	SUNCT Syndrome	2.5%
867	Paroxysmal Hemicrania	2.5%
868	Neuroaspergillosis	2.5%
869	Pyomyositis	2.5%
870	Genetic Diseases, Inborn	2.5%
871	Deficiency Diseases	2.4%
872	Starvation	2.4%
873	Refeeding Syndrome	2.4%
874	Pseudorabies	2.4%
875	Alexia	2.4%
876	Dyslexia	2.4%
877	Neurosyphilis	2.4%
878	Hyperprolactinemia	2.4%
879	Subclavian Steal Syndrome	2.4%
880	Pick Disease of the Brain	2.4%
881	Waterhouse-Friderichsen Syndrome	2.3%
882	Hoarseness	2.3%
883	Alcohol Withdrawal Delirium	2.3%
884	Lyme Neuroborreliosis	2.2%
885	Acromegaly	2.2%
886	Sinus Thrombosis, Intracranial	2.2%
887	Postural Orthostatic Tachycardia Syndrome	2.2%
888	Aortopulmonary Septal Defect	2.1%
889	Double Outlet Right Ventricle	2.1%
890	Endocardial Cushion Defects	2.1%
891	Myocardial bridging	2.1%
892	Aorticopulmonary Septal Defect	2.1%
893	Esotropia	2%
894	Exotropia	2%
895	Hypotension, Orthostatic	2%
896	Sleep Apnea Syndromes	2%
897	Post-Exercise Hypotension	2%
898	Disorders of Excessive Somnolence	2%
899	Sleep Initiation and Maintenance Disorders	2%
900	Night Terrors	2%
901	Somnambulism	2%
902	Trigeminal Nerve Disorder	2%
903	Transient Insomnia	2%
904	Sleep Paralysis	2%
905	Chronic Insomnia	2%
906	REM Sleep Behavior Disorder	2%
907	Hypersomnia	2%
908	Dysgeusia	2%
909	Formication	2%
910	Hyperalgesia	2%
911	Hyperesthesia	2%
912	Hypesthesia	2%
913	Language Disorders	2%
914	Numbness	2%
915	Paresthesia	2%
916	Paraparesis, Spastic	2%
917	Trismus	2%
918	Epilepsia Partialis Continua	2%
919	Hypogeusia	2%
920	Meningeal Carcinomatosis	2%
921	Anterior Spinal Artery Syndrome	2%
922	Brown-Sequard Syndrome	2%
923	Lockjaw	2%
924	Allodynia	2%
925	Lead Poisoning, Nervous System, Childhood	2%
926	Lead Poisoning, Nervous System, Adult	2%
927	Ageusia	2%
928	Mandibulofacial Dysostosis	1.9%
929	Romano-Ward Syndrome	1.9%
930	Obesity	1.9%
931	Prolactinoma	1.9%
932	Growth Hormone-Secreting Pituitary Adenoma	1.9%
933	Cavernous Sinus Thrombosis	1.9%
934	Sagittal Sinus Thrombosis	1.9%
935	Eye Injuries	1.9%
936	Diplopia	1.9%
937	Muscle Rigidity	1.9%
938	Muscle Spasticity	1.9%
939	Scotoma	1.9%
940	Photophobia	1.9%
941	Cogwheel Rigidity	1.9%
942	Hemifacial Spasm	1.9%
943	Amaurosis	1.9%
944	Blindness	1.9%
945	Nuchal Rigidity	1.9%
946	Hyaline Membrane Disease	1.9%
947	Malaria, Cerebral	1.8%
948	Agnosia	1.8%
949	Apraxias	1.8%
950	Hallucinations	1.8%
951	Hemianopsia	1.8%
952	Hyperacusis	1.8%
953	Tinnitus	1.8%
954	Visual Agnosia	1.8%
955	Anosognosia	1.8%
956	Wernicke-Korsakoff Syndrome	1.8%
957	Phonophobia	1.8%
958	Hearing Loss	1.8%
959	Neurocysticercosis	1.8%
960	Sarcopenia	1.8%
961	Nelson Syndrome	1.8%
962	Dermatomyositis	1.7%
963	Amnesia	1.7%
964	Delirium	1.7%
965	Dissociative Amnesia	1.7%
966	Color blindness	1.7%
967	Global Amnesia	1.7%
968	Meningioma	1.7%
969	Truncus Arteriosus, Persistent	1.7%
970	Goldenhar Syndrome	1.7%
971	Arteriovenous fistula	1.7%
972	Talipes	1.6%
973	Kwashiorkor	1.6%
974	Magnesium Deficiency	1.6%
975	Potassium Deficiency	1.6%
976	Protein Deficiency	1.6%
977	Avitaminosis	1.6%
978	Phantom pain	1.6%
979	Phantom Limb Pain	1.6%
980	Sleep Apnea, Obstructive	1.5%
981	Sleep Apnea, Central	1.5%
982	Narcolepsy	1.5%
983	Trigeminal Neuralgia	1.5%
984	Kleine-Levin Syndrome	1.5%
985	Agraphia	1.5%
986	Anomia	1.5%
987	Cluttering	1.5%
988	Language Development Disorders	1.5%
989	Speech Disorders	1.5%
990	Syncope	1.5%
991	Stupor	1.5%
992	Dysgraphia	1.5%
993	Presyncope	1.5%
994	Dyslalia	1.5%
995	Congenital clubfoot	1.4%
996	Vertical Talus	1.4%
997	Eye Burns	1.4%
998	Amaurosis Fugax	1.4%
999	Blindness, Cortical	1.4%
1000	Dyscalculia	1.4%
1001	Deafness	1.4%
1002	Hearing Loss, Sudden	1.4%
1003	Gerstmann Syndrome	1.4%
1004	Hearing Loss, Bilateral	1.4%
1005	Hearing Loss, High-Frequency	1.4%
1006	Hearing Loss, Mixed Conductive-Sensorineural	1.4%
1007	Prosopagnosia	1.4%
1008	Apraxia, Ideomotor	1.4%
1009	Charles Bonnet Syndrome	1.4%
1010	Hearing Loss, Unilateral	1.4%
1011	Complete Hearing Loss	1.4%
1012	Alien Hand Syndrome	1.4%
1013	Deaf Mutism	1.4%
1014	Obesity, Abdominal	1.4%
1015	Corneal Scar	1.3%
1016	Retrograde amnesia	1.3%
1017	Amnesia, Anterograde	1.3%
1018	Pediatric Obesity	1.3%
1019	Cataplexy	1.2%
1020	Aphasia	1.2%
1021	Articulation Disorders	1.2%
1022	Echolalia	1.2%
1023	Stuttering	1.2%
1024	Dysphasia	1.2%
1025	Ascorbic Acid Deficiency	1.2%
1026	Vitamin A Deficiency	1.2%
1027	Vitamin D Deficiency	1.2%
1028	Vitamin E Deficiency	1.2%
1029	Marasmus	1.2%
1030	Mutism	1.2%
1031	Selective Mutism	1.2%
1032	Dysarthria	1.1%
1033	Corneal Perforation	1.1%
1034	Vitamin K Deficiency	1%
1035	Alexia, Pure	1%
1036	Folic Acid Deficiency	1%
1037	Pellagra	1%
1038	Thiamine Deficiency	1%
1039	Vitamin B 12 Deficiency	1%
1040	Vitamin B 6 Deficiency	1%
1041	Pyridoxine Deficiency	1%
1042	Beriberi	0.9%
1043	Scurvy	0.9%
1044	Anemia, Pernicious	0.8%

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