| C0000731 |
BXGD000002 |
Abdomen distended |
Digestive System Diseases |
| C0000737 |
BXGD000005 |
Abdominal Pain |
Pathological Conditions, Signs and Symptoms |
| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004238 |
BXGD000262 |
Atrial Fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004712 |
BXGD000288 |
Balo's Concentric Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0005586 |
BXGD000315 |
Bipolar Disorder |
Mental Disorders |
| C0005587 |
BXGD000316 |
Depression, Bipolar |
Mental Disorders |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006111 |
BXGD000369 |
Brain Diseases |
Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006625 |
BXGD000401 |
Cachexia |
Pathological Conditions, Signs and Symptoms |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007193 |
BXGD000451 |
Cardiomyopathy, Dilated |
Cardiovascular Diseases |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0007795 |
BXGD000489 |
Diffuse Cerebral Sclerosis of Schilder |
Immune System Diseases; Nervous System Diseases |
| C0007959 |
BXGD000507 |
Charcot-Marie-Tooth Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009421 |
BXGD000608 |
Comatose |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0011119 |
BXGD000698 |
Decompression Sickness |
Wounds and Injuries |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011570 |
BXGD000729 |
Mental Depression |
Behavior and Behavior Mechanisms |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011853 |
BXGD000752 |
Diabetes Mellitus, Experimental |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011991 |
BXGD000766 |
Diarrhea |
Pathological Conditions, Signs and Symptoms |
| C0013146 |
BXGD000801 |
Drug abuse |
Chemically-Induced Disorders; Mental Disorders |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013384 |
BXGD000826 |
Dyskinetic syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013595 |
BXGD000858 |
Eczema |
Skin and Connective Tissue Diseases |
| C0013604 |
BXGD000859 |
Edema |
Pathological Conditions, Signs and Symptoms |
| C0014038 |
BXGD000878 |
Encephalitis |
Nervous System Diseases |
| C0014059 |
BXGD000881 |
Encephalomyelitis, Acute Disseminated |
Immune System Diseases; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014548 |
BXGD000928 |
Epilepsy, Generalized |
Nervous System Diseases |
| C0014550 |
BXGD000930 |
Myoclonic Epilepsy |
Nervous System Diseases |
| C0014848 |
BXGD000955 |
Esophageal Achalasia |
Digestive System Diseases |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015625 |
BXGD001006 |
Fanconi Anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0016719 |
BXGD001074 |
Friedreich Ataxia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017639 |
BXGD001133 |
Gliosis |
Pathological Conditions, Signs and Symptoms |
| C0018021 |
BXGD001162 |
Goiter |
Endocrine System Diseases |
| C0018523 |
BXGD001199 |
Hallervorden-Spatz Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0018564 |
BXGD001204 |
Hand deformities |
Musculoskeletal Diseases |
| C0018681 |
BXGD001214 |
Headache |
Pathological Conditions, Signs and Symptoms |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018790 |
BXGD001221 |
Cardiac Arrest |
Cardiovascular Diseases |
| C0019151 |
BXGD001290 |
Hepatic Encephalopathy |
Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0019193 |
BXGD001299 |
Hepatitis, Toxic |
Digestive System Diseases; Chemically-Induced Disorders |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020550 |
BXGD001429 |
Hyperthyroidism |
Endocrine System Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0021364 |
BXGD001500 |
Male infertility |
Male Urogenital Diseases |
| C0021845 |
BXGD001521 |
Intestinal Perforation |
Digestive System Diseases |
| C0021847 |
BXGD001523 |
Intestinal Pseudo-Obstruction |
Digestive System Diseases |
| C0022333 |
BXGD001534 |
Jacksonian Seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0022541 |
BXGD001550 |
Kearns-Sayre syndrome |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0022578 |
BXGD001557 |
Keratoconus |
Eye Diseases |
| C0022638 |
BXGD001567 |
Ketosis |
Nutritional and Metabolic Diseases |
| C0023264 |
BXGD001625 |
Leigh Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023343 |
BXGD001635 |
Leprosy |
Infections |
| C0023380 |
BXGD001640 |
Lethargy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024523 |
BXGD001781 |
Malabsorption Syndrome |
Digestive System Diseases; Nutritional and Metabolic Diseases |
| C0024713 |
BXGD001799 |
Manic Disorder |
Mental Disorders |
| C0025322 |
BXGD001863 |
Premature Menopause |
Female Urogenital Diseases and Pregnancy Complications |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026266 |
BXGD001895 |
Mitral Valve Insufficiency |
Cardiovascular Diseases |
| C0026267 |
BXGD001896 |
Mitral Valve Prolapse Syndrome |
Cardiovascular Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026837 |
BXGD001937 |
Muscle Rigidity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027066 |
BXGD001966 |
Myoclonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027497 |
BXGD001993 |
Nausea |
Pathological Conditions, Signs and Symptoms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027658 |
BXGD002011 |
Neoplasms, Germ Cell and Embryonal |
Neoplasms |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027796 |
BXGD002037 |
Neuralgia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027868 |
BXGD002053 |
Neuromuscular Diseases |
Nervous System Diseases |
| C0027877 |
BXGD002055 |
Neuronal Ceroid-Lipofuscinoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0028734 |
BXGD002080 |
Nocturia |
Pathological Conditions, Signs and Symptoms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0028960 |
BXGD002101 |
Oligospermia |
Male Urogenital Diseases |
| C0029089 |
BXGD002107 |
Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029134 |
BXGD002118 |
Optic Neuritis |
Eye Diseases; Nervous System Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0030252 |
BXGD002199 |
Palpitations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0030552 |
BXGD002238 |
Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0030554 |
BXGD002239 |
Paresthesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0031117 |
BXGD002285 |
Peripheral Neuropathy |
Nervous System Diseases |
| C0031485 |
BXGD002303 |
Phenylketonurias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035300 |
BXGD002526 |
Abnormal retinal morphology |
Eye Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0035410 |
BXGD002546 |
Rhabdomyolysis |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037284 |
BXGD002679 |
Skin lesion |
Skin and Connective Tissue Diseases |
| C0037763 |
BXGD002699 |
Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037771 |
BXGD002702 |
Paraparesis, Spastic |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038220 |
BXGD002740 |
Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0039273 |
BXGD002806 |
Talipes cavus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0041234 |
BXGD002901 |
Chagas Disease |
Infections |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0085215 |
BXGD003141 |
Ovarian Failure, Premature |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0085543 |
BXGD003181 |
Epilepsia Partialis Continua |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0085583 |
BXGD003194 |
Choreoathetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0085605 |
BXGD003200 |
Liver Failure |
Digestive System Diseases |
| C0085612 |
BXGD003204 |
Ventricular arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0085623 |
BXGD003210 |
Akinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0085633 |
BXGD003216 |
Mood swings |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0086237 |
BXGD003273 |
Epilepsy, Cryptogenic |
Nervous System Diseases |
| C0086439 |
BXGD003284 |
Hypokinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0087012 |
BXGD003318 |
Ataxia, Spinocerebellar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0149931 |
BXGD003388 |
Migraine Disorders |
Nervous System Diseases |
| C0149958 |
BXGD003395 |
Complex partial seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151313 |
BXGD003413 |
Sensory neuropathy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151564 |
BXGD003440 |
Cogwheel Rigidity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151583 |
BXGD003443 |
Abnormality of the cerebrospinal fluid |
Nervous System Diseases |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151846 |
BXGD003485 |
Periosteal Disorder |
Musculoskeletal Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152020 |
BXGD003519 |
Gastroparesis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0152025 |
BXGD003521 |
Polyneuropathy |
Nervous System Diseases |
| C0153452 |
BXGD003647 |
Malignant neoplasm of gallbladder |
Digestive System Diseases; Neoplasms |
| C0154208 |
BXGD003707 |
Disorder of endocrine ovary |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0155320 |
BXGD003786 |
Blindness, Cortical |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0156312 |
BXGD003849 |
Atrophy of testis |
Male Urogenital Diseases; Endocrine System Diseases |
| C0162292 |
BXGD003930 |
External Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0162429 |
BXGD003942 |
Malnutrition |
Nutritional and Metabolic Diseases |
| C0162557 |
BXGD003956 |
Liver Failure, Acute |
Digestive System Diseases |
| C0162670 |
BXGD003970 |
Mitochondrial Myopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0162671 |
BXGD003971 |
MELAS Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0162672 |
BXGD003972 |
MERRF Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0162674 |
BXGD003973 |
Chronic progressive external ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0205710 |
BXGD004112 |
Alpers Syndrome (disorder) |
Immune System Diseases; Nervous System Diseases |
| C0206624 |
BXGD004190 |
Hepatoblastoma |
Neoplasms |
| C0220994 |
BXGD004357 |
Hyperammonemia |
Pathological Conditions, Signs and Symptoms |
| C0221170 |
BXGD004400 |
Muscular stiffness |
Nervous System Diseases |
| C0221629 |
BXGD004467 |
Proximal muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0231341 |
BXGD004492 |
Premature aging syndrome |
Pathological Conditions, Signs and Symptoms |
| C0231528 |
BXGD004496 |
Myalgia |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0231688 |
BXGD004510 |
Gait, Shuffling |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0231807 |
BXGD004524 |
Dyspnea on exertion |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0232462 |
BXGD004542 |
Decrease in appetite |
Digestive System Diseases; Nervous System Diseases; Mental Disorders |
| C0232939 |
BXGD004568 |
Primary physiologic amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0232940 |
BXGD004569 |
Secondary physiologic amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0233417 |
BXGD004577 |
Poor concentration |
Behavior and Behavior Mechanisms |
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0233565 |
BXGD004590 |
Bradykinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0233794 |
BXGD004618 |
Memory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0234146 |
BXGD004626 |
Absent reflex |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234376 |
BXGD004659 |
Action Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234378 |
BXGD004661 |
Static Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234379 |
BXGD004662 |
Resting Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234533 |
BXGD004687 |
Generalized seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234535 |
BXGD004688 |
Clonic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234985 |
BXGD004708 |
Mental deterioration |
Mental Disorders |
| C0235025 |
BXGD004713 |
Peripheral motor neuropathy |
Nervous System Diseases |
| C0235031 |
BXGD004714 |
Neurologic Symptoms |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235782 |
BXGD004769 |
Gallbladder Carcinoma |
Digestive System Diseases; Neoplasms |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0236018 |
BXGD004804 |
Aura |
Nervous System Diseases |
| C0236780 |
BXGD004828 |
Mixed bipolar I disorder |
Mental Disorders |
| C0238190 |
BXGD004890 |
Inclusion Body Myositis (disorder) |
Musculoskeletal Diseases; Nervous System Diseases |
| C0239067 |
BXGD004961 |
Difficulty walking up stairs |
Pathological Conditions, Signs and Symptoms |
| C0239181 |
BXGD004970 |
Intermittent diarrhea |
Pathological Conditions, Signs and Symptoms |
| C0239831 |
BXGD004999 |
Hand muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0240421 |
BXGD005037 |
Progressive muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0240914 |
BXGD005063 |
Romberg's sign positive |
|
| C0240953 |
BXGD005067 |
Winged scapula |
|
| C0240991 |
BXGD005069 |
Ataxia, Sensory |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0240997 |
BXGD005071 |
Decreased serum ceruloplasmin |
|
| C0241005 |
BXGD005072 |
Creatine phosphokinase serum increased |
|
| C0241700 |
BXGD005108 |
Voice Fatigue |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0242422 |
BXGD005163 |
Parkinsonian Disorders |
Nervous System Diseases |
| C0242423 |
BXGD005164 |
Ramsay Hunt Paralysis Syndrome |
Nervous System Diseases |
| C0264162 |
BXGD005369 |
Camptocormia |
Musculoskeletal Diseases; Nervous System Diseases |
| C0267812 |
BXGD005780 |
Micronodular cirrhosis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0267818 |
BXGD005781 |
Bile duct proliferation |
Digestive System Diseases |
| C0268070 |
BXGD005808 |
Hypocupremia |
|
| C0268630 |
BXGD006016 |
Hyper-beta-alaninemia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0270816 |
BXGD006110 |
epilepsy and migraine |
|
| C0270824 |
BXGD006113 |
Visual seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270844 |
BXGD006115 |
Tonic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270846 |
BXGD006116 |
Epileptic drop attack |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270921 |
BXGD006133 |
Axonal neuropathy |
Nervous System Diseases |
| C0270922 |
BXGD006134 |
Peripheral demyelinating neuropathy |
Immune System Diseases; Nervous System Diseases |
| C0270951 |
BXGD006138 |
Ocular muscular dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0271623 |
BXGD006222 |
Hypogonadotropic hypogonadism |
Endocrine System Diseases |
| C0333307 |
BXGD006946 |
Superficial ulcer |
Pathological Conditions, Signs and Symptoms |
| C0333751 |
BXGD006966 |
Muscle fiber atrophy |
|
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0342776 |
BXGD007546 |
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency |
|
| C0342782 |
BXGD007549 |
Depletion of mitochondrial DNA |
|
| C0344315 |
BXGD007666 |
Depressed mood |
Behavior and Behavior Mechanisms |
| C0344424 |
BXGD007669 |
Ventricular Arrhythmia by ECG Finding |
|
| C0345200 |
BXGD007718 |
Congenital dysmotility of small intestine |
|
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0393525 |
BXGD008081 |
Progressive cerebellar ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0393593 |
BXGD008103 |
Dystonia Disorders |
Nervous System Diseases |
| C0422850 |
BXGD008457 |
Seizures, Somatosensory |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0422852 |
BXGD008458 |
Seizures, Auditory |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0422853 |
BXGD008459 |
Olfactory seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0422854 |
BXGD008460 |
Gustatory seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0422855 |
BXGD008461 |
Vertiginous seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424448 |
BXGD008529 |
Mask-like facies |
Nervous System Diseases |
| C0424551 |
BXGD008533 |
Impaired exercise tolerance |
|
| C0425957 |
BXGD008555 |
Secondary amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0427063 |
BXGD008602 |
Shoulder girdle weakness |
|
| C0427065 |
BXGD008604 |
Distal muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0427149 |
BXGD008608 |
Gait, Drop Foot |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0442874 |
BXGD008814 |
Neuropathy |
Nervous System Diseases |
| C0452138 |
BXGD008831 |
Sensorineural hearing loss, bilateral |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| C0520886 |
BXGD009118 |
ST segment elevation (finding) |
Cardiovascular Diseases |
| C0521707 |
BXGD009166 |
Bilateral cataracts (disorder) |
Eye Diseases |
| C0522214 |
BXGD009196 |
Abnormal visual evoked potential |
Nervous System Diseases |
| C0522224 |
BXGD009198 |
Paralysed |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0525045 |
BXGD009255 |
Mood Disorders |
Mental Disorders |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0542476 |
BXGD009276 |
Forgetful |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0543888 |
BXGD009300 |
Epileptic encephalopathy |
Nervous System Diseases |
| C0548923 |
BXGD009357 |
Burn infection |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0558845 |
BXGD009459 |
Reflex, Ankle, Absent |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0577655 |
BXGD009536 |
Quadriceps weakness |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0587246 |
BXGD009616 |
Muscle weakness of limb |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0598608 |
BXGD009668 |
Hyperhomocysteinemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0677607 |
BXGD009721 |
Hashimoto Disease |
Endocrine System Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0700078 |
BXGD009874 |
Decreased tendon reflex |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0729353 |
BXGD009924 |
Subfertility |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0746674 |
BXGD010147 |
Generalized muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0750937 |
BXGD010259 |
Ataxia, Appendicular |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751056 |
BXGD010306 |
Non-epileptic convulsion |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751110 |
BXGD010318 |
Single Seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751111 |
BXGD010319 |
Awakening Epilepsy |
Nervous System Diseases |
| C0751122 |
BXGD010325 |
Infantile Severe Myoclonic Epilepsy |
Nervous System Diseases |
| C0751123 |
BXGD010326 |
Atonic Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751336 |
BXGD010392 |
Distal Muscular Dystrophies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0751401 |
BXGD010427 |
Ophthalmoparesis |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0751434 |
BXGD010439 |
Classical phenylketonuria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0751494 |
BXGD010472 |
Convulsive Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751495 |
BXGD010473 |
Seizures, Focal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751496 |
BXGD010474 |
Seizures, Sensory |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0751837 |
BXGD010604 |
Gait Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0752097 |
BXGD010659 |
Autosomal Dominant Juvenile Parkinson Disease |
Nervous System Diseases |
| C0752098 |
BXGD010660 |
Autosomal Dominant Parkinsonism |
Nervous System Diseases |
| C0752100 |
BXGD010661 |
Autosomal Recessive Parkinsonism |
Nervous System Diseases |
| C0752101 |
BXGD010662 |
Parkinsonism, Experimental |
Nervous System Diseases |
| C0752104 |
BXGD010663 |
Familial Juvenile Parkinsonism |
Nervous System Diseases |
| C0752105 |
BXGD010664 |
Parkinsonism, Juvenile |
Nervous System Diseases |
| C0813217 |
BXGD010854 |
Expressionless face |
Nervous System Diseases |
| C0848676 |
BXGD010883 |
Subfertility, Male |
Male Urogenital Diseases |
| C0850703 |
BXGD010905 |
Frequent falls |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0854530 |
BXGD011023 |
Infection by human herpesvirus 6 |
Infections |
| C0858618 |
BXGD011184 |
Dyschromatopsia |
|
| C0860207 |
BXGD011220 |
Drug-Induced Liver Disease |
Digestive System Diseases; Chemically-Induced Disorders |
| C0872218 |
BXGD011320 |
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME |
|
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0917731 |
BXGD011407 |
Male sterility |
Male Urogenital Diseases |
| C0917796 |
BXGD011408 |
Optic Atrophy, Hereditary, Leber |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C0948163 |
BXGD011511 |
Leukoaraiosis |
Pathological Conditions, Signs and Symptoms |
| C0948216 |
BXGD011517 |
Ovarian adenocarcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0948896 |
BXGD011563 |
Primary hypogonadism |
Endocrine System Diseases |
| C0949855 |
BXGD011587 |
Electron Transport Chain Deficiencies, Mitochondrial |
Nutritional and Metabolic Diseases |
| C0949856 |
BXGD011588 |
Oxidative Phosphorylation Deficiencies |
Nutritional and Metabolic Diseases |
| C0949857 |
BXGD011589 |
Mitochondrial Respiratory Chain Deficiencies |
Nutritional and Metabolic Diseases |
| C1096063 |
BXGD011600 |
Drug Resistant Epilepsy |
Nervous System Diseases |
| C1112256 |
BXGD011655 |
Sensorimotor neuropathy |
|
| C1262760 |
BXGD011886 |
Hepatitis, Drug-Induced |
Digestive System Diseases; Chemically-Induced Disorders |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1263857 |
BXGD011900 |
Peripheral axonal neuropathy |
Nervous System Diseases |
| C1295585 |
BXGD012241 |
Decreased vibratory sense |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1303073 |
BXGD012322 |
Nicolaides Baraitser syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1318485 |
BXGD012394 |
Liver regeneration disorder |
Digestive System Diseases |
| C1321756 |
BXGD012440 |
Achalasia |
|
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1389113 |
BXGD012965 |
Generalized amyotrophy |
|
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1527344 |
BXGD013275 |
Dysphonia |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1562585 |
BXGD013375 |
Leprosy, Multibacillary |
Infections |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1623038 |
BXGD013475 |
Cirrhosis |
Pathological Conditions, Signs and Symptoms |
| C1629609 |
BXGD013479 |
Age at menopause |
|
| C1806780 |
BXGD013759 |
Increased CSF protein |
|
| C1827284 |
BXGD013767 |
Refractory occipital lobe epilepsy |
Nervous System Diseases |
| C1834846 |
BXGD013997 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C1836003 |
BXGD014069 |
Facial diplegia |
Infections; Nervous System Diseases; Stomatognathic Diseases |
| C1836440 |
BXGD014115 |
Increased serum lactate |
Nutritional and Metabolic Diseases |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1836861 |
BXGD014172 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C1836923 |
BXGD014178 |
Gastrointestinal dysmotility |
|
| C1837098 |
BXGD014198 |
Easy fatigability |
|
| C1837108 |
BXGD014199 |
Decreased muscle mass |
|
| C1837256 |
BXGD014212 |
Macrovesicular hepatic steatosis |
Digestive System Diseases |
| C1838681 |
BXGD014337 |
Rapidly progressive |
|
| C1839333 |
BXGD014369 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 |
Nervous System Diseases |
| C1839839 |
BXGD014416 |
MAJOR AFFECTIVE DISORDER 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders |
| C1842552 |
BXGD014523 |
Limb-girdle muscle atrophy |
|
| C1842587 |
BXGD014526 |
Sensory axonal neuropathy |
|
| C1843700 |
BXGD014604 |
Increased variability in muscle fiber diameter |
|
| C1843851 |
BXGD014611 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C1843852 |
BXGD014612 |
SPINOCEREBELLAR ATAXIA WITH EPILEPSY |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1843858 |
BXGD014613 |
Atrophy/Degeneration involving the spinal cord |
|
| C1843859 |
BXGD014614 |
Sensory ataxic neuropathy |
|
| C1843865 |
BXGD014615 |
Vestibular dysfunction |
|
| C1843885 |
BXGD014616 |
Progressive gait ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1843920 |
BXGD014619 |
COENZYME Q10 DEFICIENCY |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1846288 |
BXGD014796 |
Recurrent hypoglycemia |
Nutritional and Metabolic Diseases |
| C1846868 |
BXGD014846 |
Parkinsonism with favorable response to dopaminergic medication |
Nervous System Diseases |
| C1847584 |
BXGD014876 |
Distal sensory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1848736 |
BXGD014970 |
Distal amyotrophy |
|
| C1849096 |
BXGD015005 |
Infantile onset spinocerebellar ataxia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1849140 |
BXGD015011 |
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1849148 |
BXGD015014 |
Decreased sensory nerve conduction velocity |
|
| C1849488 |
BXGD015058 |
Increased serum pyruvate |
|
| C1850303 |
BXGD015127 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C1850415 |
BXGD015142 |
Microvesicular hepatic steatosis |
Digestive System Diseases |
| C1850496 |
BXGD015147 |
Neuronal loss in central nervous system |
|
| C1850573 |
BXGD015154 |
Slender build |
Pathological Conditions, Signs and Symptoms |
| C1850848 |
BXGD015182 |
Muscle fiber necrosis |
|
| C1852197 |
BXGD015264 |
MAJOR AFFECTIVE DISORDER 1 |
Mental Disorders |
| C1852373 |
BXGD015276 |
Mitochondrial encephalopathy |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1853761 |
BXGD015359 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1853767 |
BXGD015361 |
Impaired distal vibration sensation |
|
| C1854489 |
BXGD015408 |
Limb dysmetria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1856691 |
BXGD015631 |
Impaired proprioception |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1857276 |
BXGD015688 |
Trichohepatoenteric Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858729 |
BXGD015825 |
Decreased motor nerve conduction velocity |
|
| C1859520 |
BXGD015907 |
Progressive spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1859606 |
BXGD015914 |
Decreased number of large peripheral myelinated nerve fibers |
|
| C1859863 |
BXGD015938 |
Cerebral cortical neurodegeneration |
|
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1865353 |
BXGD016318 |
Ethylmalonic aciduria |
|
| C1866141 |
BXGD016379 |
Foot dorsiflexor weakness |
|
| C1868097 |
BXGD016487 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC |
|
| C1868675 |
BXGD016520 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE |
Nervous System Diseases |
| C1883529 |
BXGD016597 |
Ventricular Arrhythmia, CTCAE 3.0 |
|
| C1963165 |
BXGD016685 |
Malabsorption, CTCAE |
|
| C1963167 |
BXGD016686 |
Memory Impairment, CTCAE 3.0 |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1970943 |
BXGD016852 |
MAJOR AFFECTIVE DISORDER 4 |
Mental Disorders |
| C1970945 |
BXGD016853 |
MAJOR AFFECTIVE DISORDER 6 |
Mental Disorders |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2676033 |
BXGD017322 |
Hepatoblastoma Caused By Somatic Mutation |
Digestive System Diseases; Neoplasms |
| C2700438 |
BXGD017469 |
MAJOR AFFECTIVE DISORDER 7 |
Mental Disorders |
| C2700439 |
BXGD017470 |
MAJOR AFFECTIVE DISORDER 8 |
Mental Disorders |
| C2700440 |
BXGD017471 |
MAJOR AFFECTIVE DISORDER 9 |
Mental Disorders |
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2713368 |
BXGD017496 |
Hematopoetic Myelodysplasia |
Hemic and Lymphatic Diseases |
| C2717961 |
BXGD017519 |
Thrombotic Microangiopathies |
Hemic and Lymphatic Diseases |
| C2931822 |
BXGD018068 |
Nasopharyngeal carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C2931928 |
BXGD018095 |
Mitochondrial cytopathy |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C3150914 |
BXGD018357 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) |
|
| C3160712 |
BXGD018467 |
Palpitations, CTCAE |
|
| C3275417 |
BXGD018663 |
Ragged-red muscle fibers |
|
| C3277376 |
BXGD018713 |
Multiple mitochondrial DNA deletions |
|
| C3495874 |
BXGD019008 |
Nonepileptic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3658290 |
BXGD019256 |
Drug-Induced Acute Liver Injury |
Digestive System Diseases; Chemically-Induced Disorders |
| C3665346 |
BXGD019278 |
Unspecified visual loss |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3665386 |
BXGD019284 |
Abnormal vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3683791 |
BXGD019332 |
Ataxia Neuropathy Spectrum |
Nutritional and Metabolic Diseases |
| C3696376 |
BXGD019346 |
3-Methylglutaconic Aciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C3714745 |
BXGD019427 |
Malabsorption |
Digestive System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714796 |
BXGD019434 |
Isolated somatotropin deficiency |
|
| C3806467 |
BXGD019513 |
Respiratory insufficiency due to muscle weakness |
Respiratory Tract Diseases |
| C3810365 |
BXGD019652 |
Central visual impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3887524 |
BXGD019892 |
Skin Erosion |
Skin and Connective Tissue Diseases |
| C3887640 |
BXGD019908 |
Astrocytosis |
Pathological Conditions, Signs and Symptoms |
| C3888789 |
BXGD019985 |
Pancreatic toxicity |
|
| C3888962 |
BXGD019996 |
POLG mutation |
|
| C4020732 |
BXGD020474 |
Mitochondrial abnormalities |
|
| C4020908 |
BXGD020494 |
Hypointensity of cerebral white matter on MRI |
Pathological Conditions, Signs and Symptoms |
| C4021585 |
BXGD020687 |
Impaired distal proprioception |
|
| C4021724 |
BXGD020734 |
Cytochrome C oxidase-negative muscle fibers |
|
| C4021726 |
BXGD020735 |
EMG: myopathic abnormalities |
Musculoskeletal Diseases; Nervous System Diseases |
| C4022012 |
BXGD020868 |
Death in early adulthood |
|
| C4022770 |
BXGD020995 |
Abnormal thalamic MRI signal intensity |
|
| C4022792 |
BXGD020999 |
Reduced ejection fraction |
|
| C4023042 |
BXGD021081 |
Abnormality of the mitochondrion |
|
| C4023055 |
BXGD021087 |
Abnormality of central motor conduction |
|
| C4024751 |
BXGD021404 |
Abnormality of the extraocular muscles |
|
| C4024946 |
BXGD021493 |
Focal white matter lesions |
Pathological Conditions, Signs and Symptoms |
| C4025597 |
BXGD021685 |
Subsarcolemmal accumulations of abnormally shaped mitochondria |
|
| C4025751 |
BXGD021775 |
Abnormality of the pancreas |
|
| C4048158 |
BXGD021890 |
Convulsions |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4073164 |
BXGD022055 |
Decreased urinary copper concentration |
|
| C4225153 |
BXGD022160 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 |
|
| C4277682 |
BXGD022376 |
Chemical and Drug Induced Liver Injury |
Digestive System Diseases; Chemically-Induced Disorders |
| C4279912 |
BXGD022378 |
Chemically-Induced Liver Toxicity |
Digestive System Diseases; Chemically-Induced Disorders |
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4317109 |
BXGD022725 |
Epileptic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4317123 |
BXGD022727 |
Myoclonic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4476616 |
BXGD022840 |
Atrophic muscularis propria |
|
| C4476705 |
BXGD022849 |
Upgaze palsy |
|
| C4476759 |
BXGD022861 |
Stooped posture |
Nervous System Diseases |
| C4476793 |
BXGD022872 |
Abnormal cell morphology |
|
| C4505072 |
BXGD022953 |
Epileptic Syndromes |
Nervous System Diseases |
| C4505436 |
BXGD022962 |
Generalized Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4511452 |
BXGD023002 |
Sporadic Parkinson disease |
Nervous System Diseases |
| C4524077 |
BXGD023088 |
Hypertrophic olivary degeneration |
|
| C4525297 |
BXGD023131 |
Stage 0 Gallbladder Cancer AJCC v8 |
|
| C4525300 |
BXGD023132 |
Stage IIA Gallbladder Cancer AJCC v8 |
|
| C4525301 |
BXGD023133 |
Stage IIB Gallbladder Cancer AJCC v8 |
|
| C4525302 |
BXGD023134 |
Stage III Gallbladder Cancer AJCC v8 |
|
| C4525305 |
BXGD023135 |
Stage IV Gallbladder Cancer AJCC v8 |
|
| C4531132 |
BXGD023191 |
Abnormal morphology of the cerebellar cortex |
|
| C4551521 |
BXGD023337 |
Kinetic tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4551584 |
BXGD023362 |
Brain atrophy |
Nervous System Diseases |
| C4551715 |
BXGD023399 |
Pigmentary retinopathy |
|
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|
| C4551995 |
BXGD023470 |
Mitochondrial DNA Depletion Syndrome 1 |
|
| C4552811 |
BXGD023526 |
Generalized Muscle Weakness, CTCAE |
|
| C4553764 |
BXGD023550 |
Ventricular Arrhythmia, CTCAE 5.0 |
|
| C4553765 |
BXGD023551 |
Memory Impairment, CTCAE 5.0 |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|