MetaADEDB 2.0 @ LMMD
Carbamoyl-Phosphate Synthase I Deficiency Disease
(UMLS:C0751753)
Definition:
A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
UMLS ID:
C0751753
MeSH ID:
D020165
Classification 1:
Name:
Nervous System Diseases
MeSH Tree Number(s):
C10.228.140.163.100.937.249
Classification 2:
Name:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):
C16.320.565.100.940.249|C16.320.565.189.937.249
Classification 3:
Name:
Nutritional and Metabolic Diseases
MeSH Tree Number(s):
C18.452.132.100.937.249|C18.452.648.100.940.249|C18.452.648.189.937.249|C18.452.660.097
Synonym(s)
1.
Carbamoyl-Phosphate Synthase I Deficiency Disease
2.
CPS1 (carbamoyl-phosphate synthetase 1) deficiency
3.
Carbamoyl Phosphate Synthetase Deficiency
4.
Carbamoyl phosphate synthetase deficiency
5.
Carbamoyl-Phosphate Synthetase I Deficiency
6.
Carbamoyl-phosphate synthetase 1 deficiency
7.
Carbamoyl-phosphate synthetase I deficiency
8.
carbamoyl phosphate synthetase deficiency
Associated Drug(s)
NameNumber of ReportsReference(s)Data Source
1Benzoic Acid6623463CTD
2Sodium Benzoate8438805CTD
3phenylacetic acid8438805CTD
Similar ADE(s)
NameSemantic Similarity
1Tyrosinemias54.9%
2Leigh Disease53.2%
3Galactosemias49%
4Homocystinuria45.5%
5Adrenoleukodystrophy45.1%
6Hepatolenticular Degeneration41.7%
7Menkes Kinky Hair Syndrome41.1%
8Zellweger Syndrome38.8%
9Refsum Disease38.4%
10Glycogen storage disease type II37.2%
11MELAS Syndrome35.1%
12Hyperhomocysteinemia34.5%
13Smith-Lemli-Opitz Syndrome34.3%
14Pseudohypoparathyroidism33.5%
15Carbohydrate Metabolism, Inborn Errors32.1%
16Metal Metabolism, Inborn Errors32.1%
17Progeria32.1%
18Lysosomal Storage Diseases32.1%
19Peroxisomal Disorders32.1%
20Cytochrome-c Oxidase Deficiency30.6%
21Hyperphosphaturia30.6%
22Gaucher Disease30.2%
23Fabry Disease28.9%
24Wasting Syndrome28.3%
25Alkaptonuria28.3%
26Propionic acidemia28.3%
27Mitochondrial Encephalomyopathies26.6%
28Canavan Disease26.4%
29Alexander Disease26.4%
30Lactose Intolerance26.3%
31Albinism25.5%
32Hypolipoproteinemias25%
33Hypercalcemia24.7%
34Hypocalcemia24.7%
35Milk-Alkali Syndrome24.7%
36Amyloid Neuropathies, Familial24.6%
37Familial Hypophosphatemic Rickets24.5%
38Niemann-Pick Disease, Type C24.2%
39Brain Diseases, Metabolic, Inborn24%
40Hyperlipoproteinemia Type IV23.9%
41Hyperlipoproteinemia Type V23.9%
42Acid-Base Imbalance23.7%
43Calcium Metabolism Disorders23.7%
44Iron Metabolism Disorders23.7%
45Phosphorus Metabolism Disorders23.7%
46Water-Electrolyte Imbalance23.7%
47Lipid Metabolism Disorders23.7%
48Glucose Metabolism Disorders23.7%
49Tay-Sachs Disease23.4%
50Hyperlipidemia, Familial Combined23%
51Lipodystrophy22.3%
52Werner Syndrome22.2%
53Hyperlipoproteinemia Type III22%
54Myelinolysis, Central Pontine21.9%
55Rickets21.6%
56Urea Cycle Disorders, Inborn21.4%
57Osteopenia21.3%
58Neuronal Ceroid-Lipofuscinoses21%
59Renal tubular acidosis20.8%
60Mucopolysaccharidosis III20.5%
61Reye Syndrome20.4%
62Mucopolysaccharidosis II20.4%
63Hepatic Encephalopathy20.3%
64Glycogen Storage Disease19.7%
65Hypophosphatasia19.7%
66Dihydropyrimidine Dehydrogenase Deficiency19.7%
67Cystinosis19.7%
68Amino Acid Metabolism, Inborn Errors19.5%
69Carbamoyl-Phosphate Synthase I Deficiency Disease19.4%
70Ichthyosis, X-Linked18.9%
71Friedreich Ataxia18.7%
72Wernicke Encephalopathy18.1%
73Cockayne Syndrome17.9%
74Glycosuria, Renal17.8%
75Hypoalphalipoproteinemias17.5%
76Mitochondrial Myopathies17.2%
77Kernicterus17.1%
78Familial Periodic Paralysis17%
79Sjogren-Larsson Syndrome16.9%
80Mitochondrial Diseases16.4%
81Ataxia Telangiectasia16.3%
82Brain Diseases, Metabolic16.2%
83Optic Atrophy, Hereditary, Leber16.2%
84Renal Aminoacidurias16.1%
85Fanconi Syndrome16.1%
86Pseudohypoaldosteronism16.1%
87Liddle Syndrome16.1%
88Congenital Hyperinsulinism16%
89Antley-Bixler Syndrome Phenotype15.7%
90Gout15%
91Kearns-Sayre syndrome14.9%
92Porphyrias, Hepatic14.7%
93Nutrition Disorders14.6%
94Fanconi Anemia14.5%
95Osteomalacia14.2%
96Bloom Syndrome14.1%
97Acidosis13.8%
98Alkalosis13.8%
99Amyloidosis13.8%
100Calcinosis13.8%
101Hyperglycemia13.8%
102Hyperinsulinism13.8%
103Hyperkalemia13.8%
104Hypernatremia13.8%
105Hypoglycemia13.8%
106Hypokalemia13.8%
107Hyponatremia13.8%
108Xanthomatosis13.8%
109Hypophosphatemia13.8%
110Metabolic acidosis13.8%
111Dyslipidemias13.8%
112Iron Overload13.8%
113Xanthoma13.8%
114Glycogen Storage Disease Type I13.6%
115Glycogen Storage Disease Type V13.6%
116Diabetes Mellitus12.6%
117Diabetic Ketoacidosis12.5%
118Dehydration12.4%
119Lipomatosis12.4%
120Water Intoxication12.4%
121HIV Wasting Syndrome12.4%
122Achlorhydria12.4%
123Osteoporosis12.4%
124Bone Demineralization, Pathologic12.4%
125Post-Traumatic Osteoporosis12.4%
126Celiac Disease12.3%
127Sprue, Tropical12.3%
128Steatorrhea12.3%
129Sprue12.3%
130Xeroderma Pigmentosum11.9%
131Hypokalemic periodic paralysis11.6%
132Renal Osteodystrophy11.2%
133Renal rickets11.2%
134Aicardi's syndrome11.2%
135Cystinuria11.1%
136Glycosuria11.1%
137HIV-Associated Lipodystrophy Syndrome11.1%
138Nesidioblastosis11.1%
139Cystic Fibrosis10.9%
140Myasthenic Syndromes, Congenital10.6%
141CHARGE Syndrome10.4%
142Arthritis, Gouty10.3%
143Necrobiosis Lipoidica Diabeticorum10.1%
144Neoplastic Syndromes, Hereditary10%
145Multiple Epiphyseal Dysplasia9.7%
146Osteochondrodysplasias9.7%
147Pelger-Huet Anomaly9.7%
148Amyotrophic Lateral Sclerosis9.7%
149Nail-Patella Syndrome9.5%
150Variegate Porphyria9.2%
151Acute intermittent porphyria9.2%
152Porphyria Cutanea Tarda9.2%
153Muscular Dystrophy9.2%
154Prader-Willi Syndrome9.1%
155Muscular Dystrophy, Duchenne9%
156Acidosis, Lactic9%
157Calciphylaxis9%
158Hemosiderosis9%
159Ketosis9%
160Ketonuria9%
161Ketoacidosis9%
162Ketonemia9%
163Vascular calcification9%
164Dwarfism9%
165Anemia, Sickle Cell8.8%
166Thalassemia8.8%
167Osteogenesis Imperfecta8.8%
168Alstrom Syndrome8.7%
169Dystonia Musculorum Deformans8.7%
170Smith-Magenis syndrome8.7%
171Huntington Disease8.5%
172Kartagener Syndrome8.3%
173Cerebral Amyloid Angiopathy8.3%
174Marchiafava-Bignami Disease8.3%
175Tuberous Sclerosis8.2%
176Marfan Syndrome8.2%
177Fragile X Syndrome8.2%
178Beckwith-Wiedemann Syndrome8.1%
179Wolf-Hirschhorn Syndrome8.1%
180Autoimmune Lymphoproliferative Syndrome8.1%
181Acidosis, Respiratory8%
182Adiposis Dolorosa8%
183Alkalosis, Respiratory8%
184Insulin Resistance8%
185Osteoporosis, Postmenopausal8%
186Tetany8%
187Angioedemas, Hereditary7.9%
188Myotonic Dystrophy7.9%
189Child Nutrition Disorders7.9%
190Hypervitaminosis A7.9%
191Infant Nutrition Disorders7.9%
192Malnutrition7.9%
193Dandy-Walker Syndrome7.9%
194Cri-du-Chat Syndrome7.7%
195Down Syndrome7.7%
196Trisomy 217.7%
197Holoprosencephaly7.7%
198Meningoencephalitis7.6%
199Wiskott-Aldrich Syndrome7.5%
200Gestational Diabetes7.3%
201Latent Autoimmune Diabetes in Adults7.3%
202Diabetes Mellitus, Experimental7.3%
203Nephrocalcinosis7.2%
204Kallmann Syndrome7.2%
205Encephalomyelitis7%
206Deformity7%
207Subdural Effusion7%
208Dementia, Vascular6.8%
209Ectodermal Dysplasia6.8%
210Aplasia Cutis Congenita6.8%
211Rubinstein-Taybi Syndrome6.8%
212Pneumocephalus6.7%
213Frontotemporal dementia6.7%
214Brain Abscess6.7%
215Primary amyloidosis6.6%
216Leukomalacia, Periventricular6.6%
217Hypercholesterolemia6.6%
218Hyperlipoproteinemias6.6%
219Hypertriglyceridemia6.6%
220Lafora Disease6.6%
221Unverricht-Lundborg Syndrome6.6%
222Multiple System Atrophy6.5%
223Akinetic Mutism6.3%
224Anoxic Encephalopathy6.3%
225Basal Ganglia Diseases6.3%
226Brain Damage, Chronic6.3%
227Cerebellar Diseases6.3%
228Encephalitis6.3%
229Encephalomalacia6.3%
230Epilepsy6.3%
231Hydrocephalus6.3%
232Congenital Hydrocephalus6.3%
233Hypothalamic Diseases6.3%
234Thalamic Diseases6.3%
235Intracranial Hypertension6.3%
236Aura6.3%
237Leukoencephalopathy6.3%
238Neuroaxonal Dystrophies6.3%
239Headache Disorders6.3%
240Intracranial Hypotension6.3%
241Brain Edema6.3%
242Brain Hypoxia6.3%
243Aqueductal Stenosis6.3%
244Fetal Diseases6.3%
245Williams Syndrome6.2%
246Familial Mediterranean Fever6%
247Rett Syndrome6%
248Lewy Body Disease5.9%
249Polycystic Kidney Diseases5.9%
250Brain Injuries5.8%
251Brain Neoplasms5.8%
252Ocular Motility Disorders5.7%
253Cyclophoria5.7%
254Cerebrovascular Disorders5.7%
255Cerebrovascular Insufficiency5.7%
256Dementia5.7%
257Basal Ganglia Cerebrovascular Disease5.6%
258CREST Syndrome5.6%
259Parkinsonian Disorders5.5%
260Retinal Dysplasia5.5%
261Primary Ciliary Dyskinesia5.5%
262Aniridia5.5%
263Epilepsy, Post-Traumatic5.5%
264Myotonia Congenita5.4%
265Epidermolysis Bullosa5.4%
266Subacute Combined Degeneration5.2%
267Sickle Cell Trait5.2%
268Brain Death5.2%
269Meningitis5.2%
270Movement Disorders5.2%
271Pachymeningitis5.2%
272Spinal Cord Diseases5.2%
273Duane Retraction Syndrome5.1%
274Epidural Abscess5.1%
275Welander Distal Myopathy5.1%
276Amblyopia5%
277Posterior Leukoencephalopathy Syndrome5%
278Posterior reversible encephalopathy syndrome5%
279Meconium Aspiration Syndrome5%
280Cutis Laxa4.9%
281Retinitis Pigmentosa4.9%
282Pigmentary retinopathy4.9%
283Porokeratosis4.9%
284Keratoderma, Palmoplantar4.9%
285Chronic granulomatous disease4.8%
286Myelitis4.8%
287Mobius Syndrome4.8%
288Central Nervous System Infection4.7%
289Pseudoxanthoma Elasticum4.7%
290Progressive supranuclear palsy4.7%
291Deficiency Diseases4.6%
292Starvation4.6%
293Refeeding Syndrome4.6%
294Stiff-Person Syndrome4.5%
295Acute Chest Syndrome4.5%
296Vascular Headaches4.5%
297Hypoxia-Ischemia, Brain4.5%
298Meige Syndrome4.4%
299Cerebral Ventriculitis4.4%
300Amnesia, Transient Global4.4%
301Peutz-Jeghers Syndrome4.4%
302Thrombasthenia4.4%
303Antithrombin III Deficiency4.4%
304Protein C Deficiency4.4%
305Afibrinogenemia4.4%
306Factor VII Deficiency4.4%
307Factor X Deficiency4.4%
308Factor XII Deficiency4.4%
309Hemophilia A4.4%
310Activated Protein C Resistance4.4%
311Factor II deficiency4.4%
312Factor VIII Deficiency4.4%
313Factor V deficiency4.4%
314Factor XI Deficiency4.4%
315Hypoprothrombinemias4.4%
316Anemia, Diamond-Blackfan4.4%
317Charcot-Marie-Tooth Disease4.3%
318Leukoencephalopathy, Progressive Multifocal4.3%
319Parkinson Disease4.3%
320Cerebellar Neoplasms4.3%
321Neuroleptic Malignant Syndrome4.2%
322Xeroderma4.2%
323Multiple Endocrine Neoplasia4.1%
324Congenital Hypothyroidism4.1%
325Dermatitis, Atopic4.1%
326Basal Cell Nevus Syndrome4.1%
327Lupus Vasculitis, Central Nervous System4%
328Creutzfeldt-Jakob disease4%
329Prion Diseases4%
330Limbic Encephalitis4%
331Classical Lissencephalies and Subcortical Band Heterotopias3.9%
332Behcet Syndrome3.8%
333Myoclonic Epilepsy3.7%
334Epilepsy, Temporal Lobe3.7%
335Epilepsy, Rolandic3.7%
336Benign Rolandic Epilepsy3.7%
337Spinal Cord Injuries3.7%
338Striatonigral Degeneration3.6%
339Abdominal Cramps3.6%
340Abnormalities, Drug-Induced3.6%
341Amniotic Band Syndrome3.6%
342Asphyxia Neonatorum3.6%
343Infant, Premature, Diseases3.6%
344Situs Inversus3.6%
345Infantile Colic3.6%
346Spinal Muscular Atrophy3.6%
347Progressive Muscular Atrophy3.6%
348Toxoplasmosis, Congenital3.6%
349Dural Arteriovenous Fistula3.6%
350Asterixis3.6%
351Ballismus3.6%
352Presenile dementia3.5%
353Senile dementia3.5%
354Vasculitis, Central Nervous System3.5%
355Cerebral Palsy3.5%
356Epilepsies, Partial3.5%
357Epilepsy, Generalized3.5%
358Pseudotumor Cerebri3.5%
359Hypertensive Encephalopathy3.5%
360Simple Partial Seizures3.5%
361Epilepsy, Reflex3.5%
362Headache Disorders, Primary3.5%
363Headache Disorders, Secondary3.5%
364Medication overuse headache3.5%
365Polycystic Kidney, Autosomal Dominant3.5%
366Poliomyelitis3.5%
367Hyperkeratosis, Epidermolytic3.4%
368Basal Ganglia Hemorrhage3.4%
369Central Nervous System Cysts3.4%
370Cranial nerve diseases3.4%
371Demyelinating Diseases3.4%
372Demyelination3.4%
373Neuromuscular Diseases3.4%
374Chronobiology Disorders3.4%
375Toxoplasmosis, Cerebral3.4%
376Meningitis, Bacterial3.4%
377Meningitis, Fungal3.4%
378Leukoencephalitis, Acute Hemorrhagic3.4%
379Brain Hemorrhage, Traumatic3.4%
380Ophthalmoplegic Migraine3.4%
381Shy-Drager Syndrome3.4%
382Obesity3.3%
383Chronic Fatigue Syndrome3.3%
384Hydranencephaly3.3%
385Neural Tube Defects3.3%
386Tethered Cord Syndrome3.3%
387Iniencephaly3.3%
388Craniorachischisis3.3%
389Exencephaly3.3%
390Septo-Optic Dysplasia3.3%
391Cortical Dysplasia3.3%
392Malformations of Cortical Development3.3%
393Congenital nystagmus3.3%
394Eye Abnormalities3.3%
395Cardiovascular Abnormalities3.3%
396Anencephaly3.3%
397Miller Fisher Syndrome3.3%
398Skin Abnormalities3.3%
399Lymphatic Abnormalities3.3%
400Congenital Microtia3.3%
401Anemia, Neonatal3.2%
402Persistent Fetal Circulation Syndrome3.2%
403Nephroblastoma3.2%
404Congenital diaphragmatic hernia3.2%
405Umbilical hernia3.2%
406Paraneoplastic Cerebellar Degeneration3.2%
407Restless Legs Syndrome3.2%
408Brain Injuries, Diffuse3.2%
409Traumatic Brain Injury3.2%
410Cerebellar Ataxia3.2%
411Supratentorial Neoplasms3.2%
412Pituitary Diseases3.2%
413Carotid Artery Injuries3.2%
414Pituitary Adenoma3.1%
415Pituitary Neoplasms3.1%
416Carotid Artery Diseases3.1%
417Brain Ischemia3.1%
418Cerebrovascular accident3.1%
419Kluver-Bucy Syndrome3.1%
420Vasospasm, Intracranial3.1%
421Intracranial Arterial Diseases3.1%
422Motor Neuron Disease3.1%
423Trauma, Nervous System3.1%
424Pituitary Apoplexy3.1%
425Myelitis, Transverse3.1%
426Brain Infarction3.1%
427Nervous System Neoplasms3%
428Neurologic Manifestations3%
429Neurotoxicity Syndromes3%
430Persistent Vegetative State3%
431Adenomatous Polyposis Coli3%
432Urogenital Abnormalities3%
433Akathisia, Drug-Induced3%
434Kwashiorkor3%
435Magnesium Deficiency3%
436Potassium Deficiency3%
437Protein Deficiency3%
438Avitaminosis3%
439Neonatal Abstinence Syndrome3%
440MPTP Poisoning2.9%
441Fetal Growth Retardation2.9%
442Fetal Hypoxia2.9%
443Fetal Alcohol Spectrum Disorders2.9%
444Opsoclonus-Myoclonus Syndrome2.9%
445Spinal Cord Neoplasms2.9%
446Syphilis, Congenital2.9%
447Polyradiculoneuropathy2.9%
448Polyradiculoneuritis2.9%
449Papillon-Lefevre Disease2.9%
450Encephalomyelitis, Acute Disseminated2.9%
451Intracranial Embolism and Thrombosis2.8%
452Sleep Wake Disorders2.8%
453Arachnoiditis2.7%
454Aseptic Meningitis2.7%
455Syringomyelia2.7%
456Essential Tremor2.7%
457Familial Tremor2.7%
458Pneumorrhachis2.7%
459Writer's Cramp2.7%
460Chorioamnionitis2.7%
461Dyskinesia, Drug-Induced2.6%
462Hydrops Fetalis2.6%
463Auditory Perceptual Disorders2.5%
464Juvenile Myoclonic Epilepsy2.5%
465Myoclonic Epilepsies, Progressive2.5%
466Abnormalities, Radiation-Induced2.4%
467Central Nervous System Fungal Infections2.4%
468Conus Medullaris Syndrome2.4%
469Spinal Cord Vascular Diseases2.4%
470Multiple Endocrine Neoplasia Type 12.4%
471Turner Syndrome2.4%
472Obesity, Abdominal2.4%
473Maxillofacial Abnormalities2.4%
474Dextrocardia2.4%
475Putaminal Hemorrhage2.3%
476AIDS Dementia Complex2.3%
477Autonomic Dysreflexia2.3%
478Complex Regional Pain Syndromes2.3%
479Moyamoya Disease2.3%
480Klinefelter Syndrome2.3%
481Ophthalmia Neonatorum2.2%
482Central Nervous System Bacterial Infections2.2%
483Lambert-Eaton Myasthenic Syndrome2.2%
484Ascorbic Acid Deficiency2.2%
485Tuberculosis, Meningeal2.2%
486Vitamin A Deficiency2.2%
487Vitamin D Deficiency2.2%
488Vitamin E Deficiency2.2%
489Marasmus2.2%
490Pediatric Obesity2.2%
491Infarction, Middle Cerebral Artery2.1%
492Infarction, Anterior Cerebral Artery2.1%
493Infarction, Posterior Cerebral Artery2.1%
494Peripheral Nerve Injuries2.1%
495Myasthenia Gravis2.1%
496Post-Traumatic Headache2.1%
497Tension Headache2.1%
498Epilepsy, Complex Partial2.1%
499Migraine Disorders2.1%
500Abdominal Migraine2.1%
501Status Migrainosus2.1%
502Cervicogenic Headache2.1%
503Scimitar Syndrome2%
504Cerebral Infarction2%
505Brain Stem Infarctions2%
506Guillain-Barre Syndrome2%
507Vertebral Artery Dissection2%
508Prune Belly Syndrome2%
509Twins, Conjoined2%
510Waardenburg Syndrome2%
511Sleep Disorders, Circadian Rhythm2%
512Scrapie1.9%
513Central Cord Syndrome1.9%
514Chorea1.9%
515Botulism1.9%
516Diffuse Axonal Injury1.9%
517Brain Stem Neoplasms1.9%
518Empty Sella Syndrome1.9%
519Hyperpituitarism1.9%
520Hypopituitarism1.9%
521Hypophysitis1.9%
522Subarachnoid Hemorrhage, Traumatic1.9%
523Carotid Artery, Internal, Dissection1.9%
524Meningomyelocele1.9%
525Spina Bifida1.9%
526Cerebral Arterial Diseases1.9%
527Vertebrobasilar Insufficiency1.9%
528Basilar Artery Stenosis1.9%
529Vertebral Artery Stenosis1.9%
530Intracranial Hemorrhage, Hypertensive1.9%
531Transient Cerebral Ischemia1.9%
532Subacute Sclerosing Panencephalitis1.9%
533Denys-Drash Syndrome1.9%
534POEMS Syndrome1.8%
535Microcephaly1.8%
536Macrocephaly1.8%
537Anophthalmos1.8%
538Anus, Imperforate1.8%
539Microphthalmos1.8%
540Paralysis, Obstetric1.8%
541Retinopathy of Prematurity1.8%
542Limb Deformities, Congenital1.8%
543Craniofacial Abnormalities1.8%
544Anorectal Malformations1.8%
545Folic Acid Deficiency1.8%
546Pellagra1.8%
547Thiamine Deficiency1.8%
548Vitamin B 12 Deficiency1.8%
549Vitamin B 6 Deficiency1.8%
550Pyridoxine Deficiency1.8%
551Brain Concussion1.8%
552Bronchopulmonary Dysplasia1.8%
553Neuromyelitis Optica1.8%
554Vitamin K Deficiency1.8%
555Meningitis, Cryptococcal1.8%
556Meningitis, Listeria1.7%
557Brain Contusion1.7%
558Meningitis, Haemophilus1.7%
559Meningitis, Pneumococcal1.7%
560Giant Cell Arteritis1.7%
561Temporal Arteritis1.7%
562Dysautonomia1.7%
563Vagus Nerve Disorder1.7%
564Glossopharyngeal Neuralgia1.7%
565Abducens Nerve Diseases1.7%
566Heavy Metal Poisoning, Nervous System1.7%
567Neuromuscular Junction Diseases1.7%
568Tauopathies1.7%
569Trochlear Nerve Diseases1.7%
570Peripheral Nervous System Diseases1.7%
571Meningocele1.7%
572Encephalocele1.7%
573Olfactory Nerve Injuries1.7%
574Carotid Stenosis1.7%
575Intracranial Aneurysm1.7%
576Intracranial Arteriosclerosis1.7%
577Cerebral Atherosclerosis1.7%
578Subarachnoid Hemorrhage1.7%
579Cerebral Arteriosclerosis1.7%
580Cerebral Hemorrhage1.7%
581Cerebral Thrombosis1.7%
582Intracranial Embolism1.7%
583Intracranial Thrombosis1.7%
584Blepharophimosis1.6%
585Laryngostenosis1.6%
586Mouth Abnormalities1.6%
587Respiratory Distress Syndrome, Newborn1.6%
588Esophageal Atresia1.6%
589Intestinal Atresia1.6%
590Horseshoe Kidney1.6%
591Pectus excavatum1.6%
592Klippel-Feil Syndrome1.6%
593Gastroschisis1.6%
594Synostosis1.6%
595Horner Syndrome1.6%
596Acrodermatitis1.6%
597Lymphangiectasis, Intestinal1.6%
598Gianotti-Crosti Syndrome1.6%
599Progressive bulbar palsy1.6%
600Bulbar palsy1.6%
601Craniosynostosis1.6%
602Syndactyly1.6%
603Brachycephaly1.6%
604Torticollis1.6%
605Beriberi1.6%
606Myopathy1.6%
607Optic Neuropathy1.6%
608Facial Nerve Injuries1.5%
609Facial Nerve Diseases1.5%
610Craniocerebral Trauma1.5%
611Parasomnia1.5%
612Dyssomnias1.5%
613Polyradiculoneuropathy, Chronic Inflammatory Demyelinating1.5%
614Vestibulocochlear Nerve Diseases1.5%
615Decerebrate State1.5%
616Hemiparesis1.5%
617Meningism1.5%
618Paresis1.5%
619Seizures1.5%
620Sensation Disorders1.5%
621Central Nervous System Neoplasms1.5%
622Complex partial seizures1.5%
623Monoparesis1.5%
624Neurogenic Inflammation1.5%
625Gait Disorders, Neurologic1.5%
626Neuromuscular Manifestations1.5%
627Sweating, Gustatory1.5%
628Auriculotemporal Syndrome1.5%
629Causalgia1.5%
630Carotid Artery Thrombosis1.5%
631Porencephaly1.5%
632Lateral Medullary Syndrome1.5%
633Noonan Syndrome1.5%
634Acrocephalosyndactylia1.5%
635Arthrogryposis1.5%
636Choanal Atresia1.5%
637Tracheobronchomegaly1.5%
638Laryngocele1.5%
639Choledochal Cyst1.5%
640Hermaphroditism1.5%
641Disorders of Sex Development1.5%
642Jet Lag Syndrome1.5%
643Cryptorchidism1.5%
644Hypospadias1.5%
645Alice in Wonderland Syndrome1.5%
646Multiple Sclerosis1.5%
647Scurvy1.4%
648Myasthenia Gravis, Autoimmune, Experimental1.4%
649Anemia, Pernicious1.4%
650Pupil Disorders1.4%
651Neurobehavioral Manifestations1.4%
652Cluster Headache1.4%
653Migraine with Aura1.4%
654Familial Hemiplegic Migraine1.4%
655Chronic Paroxysmal Hemicrania1.4%
656SUNCT Syndrome1.4%
657Paroxysmal Hemicrania1.4%
658Paraneoplastic Encephalomyelitis1.4%
659Uveomeningoencephalitic Syndrome1.4%
660Sturge-Weber Syndrome1.4%
661Vertigo1.4%
662Alcohol-Induced Disorders, Nervous System1.4%
663Laryngomalacia1.4%
664Pectus carinatum1.4%
665Bladder Exstrophy1.4%
666Epispadias1.4%
667Multicystic Dysplastic Kidney1.4%
668Spinal Cord Ischemia1.3%
669Ophthalmoplegia1.3%
670External Ophthalmoplegia1.3%
671Tuberculosis, Central Nervous System1.3%
672Cleft Palate1.3%
673Voice Disorders1.3%
674Voice Disturbance1.3%
675Choroid Plexus Papilloma1.3%
676Jaw Abnormalities1.3%
677Reflex Sympathetic Dystrophy1.2%
678Nocturnal Myoclonus Syndrome1.2%
679Hyperprolactinemia1.2%
680Subclavian Steal Syndrome1.2%
681Pick Disease of the Brain1.2%
682Vocal Cord Paralysis1.2%
683Neuroaspergillosis1.2%
684West Nile Fever1.2%
685Hematoma, Subdural1.2%
686Hematoma, Epidural, Cranial1.2%
687Dermal Sinus1.2%
688Spina Bifida Cystica1.2%
689Spina Bifida Occulta1.2%
690Lissencephaly1.2%
691Polymicrogyria1.2%
692Pachygyria1.2%
693Schizencephaly1.2%
694Periventricular Nodular Heterotopia1.2%
695Reflex, Abnormal1.1%
696Hyporeflexia1.1%
697Hyperreflexia1.1%
698Pseudorabies1.1%
699Acromegaly1.1%
700Acrodynia1.1%
701Alcohol Withdrawal Seizures1.1%
702Tardive Dyskinesia1.1%
703Sinus Thrombosis, Intracranial1.1%
704Neurosyphilis1.1%
705Amelia1.1%
706Arachnodactyly1.1%
707Ectopia Cordis1.1%
708Ectromelia1.1%
709Hemimelia1.1%
710Phocomelia1.1%
711Sirenomelia1.1%
712Polydactyly1.1%
713Brachydactyly1.1%
714Plagiocephaly1.1%
715Lower Extremity Deformities, Congenital1.1%
716Upper Extremity Deformities, Congenital1.1%
717Single umbilical artery1.1%
718Poland Syndrome1.1%
719Cerebrospinal Fluid Otorrhea1%
720Cerebrospinal Fluid Rhinorrhea1%
721Neuritis, Autoimmune, Experimental1%
722Gait Ataxia1%
723Lyme Neuroborreliosis1%
724Aortic coarctation1%
725Cor Triatriatum1%
726Coronary Vessel Anomalies1%
727Dental Enamel Hypoplasia1%
728Patent ductus arteriosus1%
729Ebstein Anomaly1%
730Heart Septal Defects1%
731Hyaline Membrane Disease1%
732Hypodontia1%
733Macrostomia1%
734Microstomia1%
735Tetralogy of Fallot1%
736Transposition of Great Vessels1%
737Hypoplastic Left Heart Syndrome1%
738May-Thurner Syndrome1%
739Craniofacial Dysostosis1%
740Wolff-Parkinson-White Syndrome1%
741Akathisia0.9%
742Restlessness0.9%
743Psychomotor Agitation0.9%
744Prolactinoma0.9%
745Growth Hormone-Secreting Pituitary Adenoma0.9%
746Acoustic Neuroma0.9%
747Neuritis0.9%
748Polyneuritis0.9%
749Radiculitis0.9%
750Polyneuropathy0.9%
751Mononeuritis0.9%
752Mononeuropathies0.9%
753Brachial Plexus Neuropathies0.9%
754Radiculopathy0.9%
755Mononeuropathy Multiplex0.9%
756Nerve Root Compression0.9%
757Brachial Plexus Neuritis0.9%
758Neuralgic Amyotrophy0.9%
759Coma, Post-Head Injury0.9%
760Long QT Syndrome0.9%
761Platybasia0.9%
762Tricuspid Atresia0.9%
763Arrhythmogenic Right Ventricular Dysplasia0.9%
764Gonadal Dysgenesis0.9%
765Bronchomalacia0.9%
766Adrenogenital Syndrome0.9%
767Tracheomalacia0.9%
768Ovotesticular Disorders of Sex Development0.9%
769Micrognathism0.9%
770Pierre Robin Syndrome0.9%
771Hyperandrogenism0.9%
772Optic Nerve Glioma0.8%
773Cavernous Sinus Thrombosis0.8%
774Sagittal Sinus Thrombosis0.8%
775Hematoma, Subdural, Intracranial0.8%
776Hematoma, Subdural, Chronic0.8%
777Hematoma, Subdural, Acute0.8%
778Myositis0.8%
779Optic Atrophy0.8%
780Optic Neuritis0.8%
781Papilledema0.8%
782Strabismus0.8%
783Tolosa-Hunt Syndrome0.8%
784Isaacs syndrome0.8%
785Arsenic Poisoning0.8%
786Myotonic Disorders0.8%
787Diabetic Neuropathies0.8%
788Facial Injuries0.8%
789Facial Neuralgia0.8%
790Diabetic Amyotrophy0.8%
791Diabetic Autonomic Neuropathy0.8%
792Sleep Talking0.8%
793Manganese Poisoning0.8%
794Sleep Disorders, Intrinsic0.8%
795Orthostatic intolerance0.8%
796Retrognathia0.8%
797Anosmia0.8%
798Ataxia0.8%
799Athetosis0.8%
800Catalepsy0.8%
801Dystonia0.8%
802Hemiplegia0.8%
803Locked-In Syndrome0.8%
804Meningeal Neoplasms0.8%
805Muscle Hypertonia0.8%
806Muscle hypotonia0.8%
807Myoclonus0.8%
808Myotonia0.8%
809Neuralgia0.8%
810Paraplegia0.8%
811Pseudobulbar Palsy0.8%
812Quadriplegia0.8%
813Spasm0.8%
814Spastic Paraplegia0.8%
815Status Epilepticus0.8%
816Taste Disorders0.8%
817Tremor0.8%
818Monoplegia0.8%
819Hypokinesia0.8%
820Paraparesis0.8%
821Bradykinesia0.8%
822Waxy flexibility0.8%
823Action Tremor0.8%
824Resting Tremor0.8%
825Dysosmia0.8%
826Quadriparesis0.8%
827Mercury Poisoning, Nervous System0.8%
828Olfaction Disorders0.8%
829Myokymia0.8%
830Lead Poisoning, Nervous System0.8%
831Vestibular Neuronitis0.8%
832Somatosensory Disorders0.8%
833Neuropathic pain0.8%
834Hyperkinesia0.8%
835Intention tremor0.8%
836Gait Apraxia0.8%
837Multiple Sclerosis, Chronic Progressive0.8%
838Multiple Sclerosis, Relapsing-Remitting0.8%
839Anterior Spinal Artery Syndrome0.8%
840Nelson Syndrome0.8%
841Prognathism0.8%
842Waterhouse-Friderichsen Syndrome0.8%
843Hand-Arm Vibration Syndrome0.7%
844Vision Disorders0.7%
845Metamorphopsia0.7%
846Visual Impairment0.7%
847Fibromyalgia0.7%
848Optic Neuropathy, Ischemic0.7%
849Anterior Ischemic Optic Neuropathy0.7%
850Medial Tibial Stress Syndrome0.7%
851Facial Hemiatrophy0.7%
852Melkersson-Rosenthal Syndrome0.7%
853Anisocoria0.7%
854Confusion0.7%
855Facial paralysis0.7%
856Lethargy0.7%
857Memory Disorders0.7%
858Muscle Cramp0.7%
859Perceptual Disorders0.7%
860Psychomotor Disorders0.7%
861Tonic Pupil0.7%
862Eosinophilia-Myalgia Syndrome0.7%
863Anhedonia0.7%
864Disorientation0.7%
865Facial Paresis0.7%
866Memory Loss0.7%
867Hemisensory Neglect0.7%
868Dysacusis0.7%
869Sleep Bruxism0.7%
870Muscular Atrophy0.7%
871Respiratory Paralysis0.7%
872Malaria, Cerebral0.7%
873Neurocysticercosis0.7%
874Tarsal Tunnel Syndrome0.7%
875Cauda Equina Syndrome0.7%
876Consciousness Disorders0.7%
877Mental Retardation0.7%
878Muscle Weakness0.7%
879Depressed Level of Consciousness0.7%
880Mental deficiency0.7%
881Intellectual Disability0.7%
882Bell Palsy0.7%
883Catatonia0.7%
884Herpes Zoster Oticus0.7%
885Aphonia0.7%
886Sleep Deprivation0.7%
887Dysphonia0.7%
888Carpal Tunnel Syndrome0.6%
889Aortopulmonary Septal Defect0.6%
890Double Outlet Right Ventricle0.6%
891Endocardial Cushion Defects0.6%
892neurofibroma0.6%
893Myocardial bridging0.6%
894Aorticopulmonary Septal Defect0.6%
895Sciatica0.6%
896Myalgia0.6%
897Mandibulofacial Dysostosis0.6%
898Romano-Ward Syndrome0.6%
899Hoarseness0.6%
900Alcohol Withdrawal Delirium0.6%
901Sciatic Neuropathy0.5%
902Ulnar Neuropathies0.5%
903Lesion of Sciatic Nerve0.5%
904Ulnar Neuritis0.5%
905Radial nerve compression0.5%
906Radial Tunnel Syndrome0.5%
907Peroneal Neuropathies0.5%
908Radial Neuropathy0.5%
909Median Neuropathy0.5%
910Sciatic Nerve Palsy0.5%
911Femoral Neuropathy0.5%
912Tibial Neuropathy0.5%
913Ulnar Nerve Palsy0.5%
914Postural Orthostatic Tachycardia Syndrome0.5%
915Radial nerve palsy0.5%
916Arteriovenous fistula0.5%
917Cubital Tunnel Syndrome0.5%
918Truncus Arteriosus, Persistent0.5%
919Goldenhar Syndrome0.5%
920Thoracic Outlet Syndrome0.4%
921Esotropia0.4%
922Exotropia0.4%
923Hypotension, Orthostatic0.4%
924Sleep Apnea Syndromes0.4%
925Polymyositis0.4%
926Post-Exercise Hypotension0.4%
927Disorders of Excessive Somnolence0.4%
928Sleep Initiation and Maintenance Disorders0.4%
929Night Terrors0.4%
930Somnambulism0.4%
931Trigeminal Nerve Disorder0.4%
932Transient Insomnia0.4%
933Sleep Paralysis0.4%
934Chronic Insomnia0.4%
935REM Sleep Behavior Disorder0.4%
936Hypersomnia0.4%
937Dysgeusia0.4%
938Formication0.4%
939Hyperalgesia0.4%
940Hyperesthesia0.4%
941Hypesthesia0.4%
942Language Disorders0.4%
943Numbness0.4%
944Paresthesia0.4%
945Paraparesis, Spastic0.4%
946Trismus0.4%
947Epilepsia Partialis Continua0.4%
948Hypogeusia0.4%
949Meningeal Carcinomatosis0.4%
950Brown-Sequard Syndrome0.4%
951Lockjaw0.4%
952Allodynia0.4%
953Lead Poisoning, Nervous System, Childhood0.4%
954Lead Poisoning, Nervous System, Adult0.4%
955Ageusia0.4%
956Talipes0.4%
957Eye Injuries0.4%
958Orbital Myositis0.4%
959Diplopia0.4%
960Muscle Rigidity0.4%
961Muscle Spasticity0.4%
962Scotoma0.4%
963Photophobia0.4%
964Cogwheel Rigidity0.4%
965Hemifacial Spasm0.4%
966Amaurosis0.4%
967Blindness0.4%
968Nuchal Rigidity0.4%
969Pyomyositis0.4%
970Agnosia0.4%
971Apraxias0.4%
972Hallucinations0.4%
973Hemianopsia0.4%
974Hyperacusis0.4%
975Tinnitus0.4%
976Visual Agnosia0.4%
977Anosognosia0.4%
978Wernicke-Korsakoff Syndrome0.4%
979Phonophobia0.4%
980Hearing Loss0.4%
981Sarcopenia0.4%
982Alexia0.4%
983Dyslexia0.4%
984Amnesia0.4%
985Delirium0.4%
986Dissociative Amnesia0.4%
987Color blindness0.4%
988Global Amnesia0.4%
989Meningioma0.4%
990Congenital clubfoot0.4%
991Vertical Talus0.4%
992Phantom pain0.3%
993Phantom Limb Pain0.3%
994Neurofibrosarcoma0.3%
995Polyradiculopathy0.3%
996Sleep Apnea, Obstructive0.3%
997Sleep Apnea, Central0.3%
998Narcolepsy0.3%
999Trigeminal Neuralgia0.3%
1000Kleine-Levin Syndrome0.3%
1001Agraphia0.3%
1002Anomia0.3%
1003Cluttering0.3%
1004Language Development Disorders0.3%
1005Speech Disorders0.3%
1006Syncope0.3%
1007Stupor0.3%
1008Dysgraphia0.3%
1009Presyncope0.3%
1010Dyslalia0.3%
1011Eye Burns0.2%
1012Amaurosis Fugax0.2%
1013Blindness, Cortical0.2%
1014Dyscalculia0.2%
1015Deafness0.2%
1016Hearing Loss, Sudden0.2%
1017Gerstmann Syndrome0.2%
1018Hearing Loss, Bilateral0.2%
1019Hearing Loss, High-Frequency0.2%
1020Hearing Loss, Mixed Conductive-Sensorineural0.2%
1021Prosopagnosia0.2%
1022Apraxia, Ideomotor0.2%
1023Charles Bonnet Syndrome0.2%
1024Hearing Loss, Unilateral0.2%
1025Complete Hearing Loss0.2%
1026Alien Hand Syndrome0.2%
1027Deaf Mutism0.2%
1028Dermatomyositis0.2%
1029Corneal Scar0.2%
1030Retrograde amnesia0.2%
1031Amnesia, Anterograde0.2%
1032Cataplexy0.2%
1033Aphasia0.2%
1034Articulation Disorders0.2%
1035Echolalia0.2%
1036Stuttering0.2%
1037Dysphasia0.2%
1038Mutism0.2%
1039Selective Mutism0.2%
1040Corneal Perforation0.1%
1041Dysarthria0.1%
1042Alexia, Pure0.1%
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