| C0000737 |
BXGD000005 |
Abdominal Pain |
Pathological Conditions, Signs and Symptoms |
| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0001403 |
BXGD000048 |
Addison Disease |
Immune System Diseases; Endocrine System Diseases |
| C0002152 |
BXGD000104 |
Alloxan Diabetes |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0003123 |
BXGD000178 |
Anorexia |
Pathological Conditions, Signs and Symptoms |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0003486 |
BXGD000197 |
Aortic Aneurysm |
Cardiovascular Diseases |
| C0003537 |
BXGD000208 |
Aphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0005586 |
BXGD000315 |
Bipolar Disorder |
Mental Disorders |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006625 |
BXGD000401 |
Cachexia |
Pathological Conditions, Signs and Symptoms |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007193 |
BXGD000451 |
Cardiomyopathy, Dilated |
Cardiovascular Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0008489 |
BXGD000546 |
Chorea |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009024 |
BXGD000578 |
Clonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009225 |
BXGD000594 |
Coenuriasis |
Infections |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0010709 |
BXGD000689 |
Cyst |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011334 |
BXGD000716 |
Dental caries |
Stomatognathic Diseases |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011853 |
BXGD000752 |
Diabetes Mellitus, Experimental |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| 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 |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0015930 |
BXGD001025 |
Fetal Distress |
Pathological Conditions, Signs and Symptoms |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0015967 |
BXGD001030 |
Fever |
Pathological Conditions, Signs and Symptoms |
| C0018021 |
BXGD001162 |
Goiter |
Endocrine System Diseases |
| C0018524 |
BXGD001200 |
Hallucinations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018794 |
BXGD001222 |
Heart Block |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018979 |
BXGD001260 |
Hemianopsia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0018989 |
BXGD001263 |
Hemiparesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020438 |
BXGD001382 |
Hypercalciuria |
Pathological Conditions, Signs and Symptoms |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020550 |
BXGD001429 |
Hyperthyroidism |
Endocrine System Diseases |
| C0020578 |
BXGD001434 |
Hyperventilation |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0020626 |
BXGD001452 |
Hypoparathyroidism |
Endocrine System Diseases |
| C0020672 |
BXGD001461 |
Hypothermia, natural |
Pathological Conditions, Signs and Symptoms |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0020757 |
BXGD001466 |
Ichthyoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0021843 |
BXGD001520 |
Intestinal Obstruction |
Digestive System Diseases |
| C0022578 |
BXGD001557 |
Keratoconus |
Eye Diseases |
| C0023264 |
BXGD001625 |
Leigh Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023380 |
BXGD001640 |
Lethargy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023976 |
BXGD001724 |
Long QT Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0024408 |
BXGD001768 |
Machado-Joseph Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0024523 |
BXGD001781 |
Malabsorption Syndrome |
Digestive System Diseases; Nutritional and Metabolic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; 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 |
| C0027498 |
BXGD001994 |
Nausea and vomiting |
Pathological Conditions, Signs and Symptoms |
| C0027726 |
BXGD002030 |
Nephrotic Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0028077 |
BXGD002069 |
Nyctalopia |
Eye Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029089 |
BXGD002107 |
Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029132 |
BXGD002117 |
Disorder of the optic nerve |
Eye Diseases; Nervous System Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0030305 |
BXGD002206 |
Pancreatitis |
Digestive System Diseases |
| C0030554 |
BXGD002239 |
Paresthesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0032915 |
BXGD002380 |
Preexcitation Syndrome |
Cardiovascular Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033687 |
BXGD002415 |
Proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0034065 |
BXGD002454 |
Pulmonary Embolism |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0037769 |
BXGD002701 |
West Syndrome |
Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0038433 |
BXGD002754 |
Streptozotocin Diabetes |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0038644 |
BXGD002776 |
Sudden infant death syndrome |
Pathological Conditions, Signs and Symptoms |
| C0040147 |
BXGD002847 |
Thyroiditis |
Endocrine System Diseases |
| C0040250 |
BXGD002853 |
Tinea Capitis |
Infections; Skin and Connective Tissue Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0043202 |
BXGD003037 |
Wolff-Parkinson-White Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0085207 |
BXGD003140 |
Gestational Diabetes |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0085298 |
BXGD003155 |
Sudden Cardiac Death |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0085605 |
BXGD003200 |
Liver Failure |
Digestive System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0149793 |
BXGD003366 |
Amaurosis Fugax |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0149931 |
BXGD003388 |
Migraine Disorders |
Nervous System Diseases |
| C0151313 |
BXGD003413 |
Sensory neuropathy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
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 |
| C0152191 |
BXGD003556 |
Scotoma, Central |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0154835 |
BXGD003748 |
Retinal telangiectasia |
Cardiovascular Diseases |
| C0155305 |
BXGD003785 |
Optic Neuropathy, Ischemic |
Eye Diseases; Nervous System Diseases; Cardiovascular 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 |
| C0205642 |
BXGD004094 |
Adenocarcinoma, Oxyphilic |
Neoplasms |
| C0231528 |
BXGD004496 |
Myalgia |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0233794 |
BXGD004618 |
Memory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0234378 |
BXGD004661 |
Static Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234428 |
BXGD004666 |
Disturbance of consciousness |
|
| C0238111 |
BXGD004877 |
Lennox-Gastaut syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0241005 |
BXGD005072 |
Creatine phosphokinase serum increased |
|
| C0242698 |
BXGD005189 |
Ventricular Dysfunction, Left |
Cardiovascular Diseases |
| C0262361 |
BXGD005229 |
Growth abnormality |
|
| C0268630 |
BXGD006016 |
Hyper-beta-alaninemia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0268731 |
BXGD006029 |
Renal glomerular disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0270685 |
BXGD006084 |
Cerebral calcification |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0270922 |
BXGD006134 |
Peripheral demyelinating neuropathy |
Immune System Diseases; Nervous System Diseases |
| C0271196 |
BXGD006171 |
Scotoma, Centrocecal |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0338451 |
BXGD007176 |
Frontotemporal dementia |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders |
| C0338614 |
BXGD007208 |
Psychotic episodes |
Mental Disorders |
| C0340643 |
BXGD007357 |
Dissection of aorta |
Cardiovascular Diseases |
| C0342776 |
BXGD007546 |
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency |
|
| C0344232 |
BXGD007659 |
Blurred vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376480 |
BXGD007998 |
Gingival Overgrowth |
Stomatognathic Diseases |
| C0393593 |
BXGD008103 |
Dystonia Disorders |
Nervous System Diseases |
| C0410000 |
BXGD008406 |
Overlap syndrome |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0424448 |
BXGD008529 |
Mask-like facies |
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 |
| C0476397 |
BXGD008991 |
Electroretinogram abnormal |
|
| C0476403 |
BXGD008992 |
Electromyogram abnormal |
|
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| C0522214 |
BXGD009196 |
Abnormal visual evoked potential |
Nervous System Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| 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 |
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0554970 |
BXGD009428 |
Pallor of optic disc |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0559106 |
BXGD009465 |
Ventricular preexcitation |
Pathological Conditions, Signs and Symptoms |
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0745730 |
BXGD010132 |
Multiple lipomata |
Neoplasms |
| C0751401 |
BXGD010427 |
Ophthalmoparesis |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0751837 |
BXGD010604 |
Gait Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0917796 |
BXGD011408 |
Optic Atrophy, Hereditary, Leber |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C0917798 |
BXGD011409 |
Cerebral Ischemia |
Nervous System Diseases; Cardiovascular Diseases |
| C1112256 |
BXGD011655 |
Sensorimotor neuropathy |
|
| C1167918 |
BXGD011779 |
Increased CSF lactate |
|
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1445953 |
BXGD013080 |
Poor eye contact |
Mental Disorders |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1557375 |
BXGD013360 |
Blurred Vision, CTCAE |
|
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1697453 |
BXGD013507 |
Spontaneous hematomas |
|
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836440 |
BXGD014115 |
Increased serum lactate |
Nutritional and Metabolic Diseases |
| C1836735 |
BXGD014155 |
hypopigmented skin patch |
Skin and Connective Tissue Diseases |
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1837249 |
BXGD014210 |
Malformations of Cortical Development, Group II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1838979 |
BXGD014349 |
MITOCHONDRIAL COMPLEX I DEFICIENCY |
Nutritional and Metabolic Diseases |
| C1838990 |
BXGD014350 |
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL |
|
| C1838993 |
BXGD014351 |
Episodic vomiting |
Pathological Conditions, Signs and Symptoms |
| C1839040 |
BXGD014354 |
LEBER OPTIC ATROPHY AND DYSTONIA |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C1839532 |
BXGD014382 |
Low plasma citrulline |
|
| C1839603 |
BXGD014388 |
Proximal tubulopathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1842820 |
BXGD014538 |
Cardiac conduction abnormality |
|
| C1843077 |
BXGD014553 |
Segmental peripheral demyelination/remyelination |
|
| C1843156 |
BXGD014561 |
Progressive sensorineural hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1844945 |
BXGD014698 |
Episodic respiratory distress |
|
| C1847515 |
BXGD014869 |
Paroxysmal involuntary eye movements |
|
| C1849211 |
BXGD015023 |
Generalized hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1849488 |
BXGD015058 |
Increased serum pyruvate |
|
| C1853141 |
BXGD015307 |
Slow decrease in visual acuity |
|
| C1855285 |
BXGD015483 |
Protruding ear |
|
| C1856507 |
BXGD015614 |
Bulbar signs |
|
| C1857287 |
BXGD015692 |
Stroke-like episode |
Nervous System Diseases; Cardiovascular Diseases |
| C1857640 |
BXGD015726 |
Decreased nerve conduction velocity |
|
| C1860475 |
BXGD015985 |
Retinal vascular tortuosity |
|
| C1860834 |
BXGD016006 |
Infantile muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1866934 |
BXGD016427 |
Reduced tendon reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1963165 |
BXGD016685 |
Malabsorption, CTCAE |
|
| C1963167 |
BXGD016686 |
Memory Impairment, CTCAE 3.0 |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2677650 |
BXGD017382 |
Decreased activity of mitochondrial complex I |
|
| C2751582 |
BXGD017726 |
Mitochondrial respiratory chain defects |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931092 |
BXGD017955 |
Maternally Inherited Leigh Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C2973725 |
BXGD018205 |
Pulmonary arterial hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3275417 |
BXGD018663 |
Ragged-red muscle fibers |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3502298 |
BXGD019043 |
Lactic Acidosis, Fatal Infantile |
Nutritional and Metabolic Diseases |
| 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 |
| C3714745 |
BXGD019427 |
Malabsorption |
Digestive System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3810365 |
BXGD019652 |
Central visual impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3887709 |
BXGD019918 |
Optic Neuropathy |
Eye Diseases; Nervous System Diseases |
| C3887898 |
BXGD019926 |
Infantile Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4021546 |
BXGD020663 |
Abnormal mitochondria in muscle tissue |
|
| C4021569 |
BXGD020677 |
Central retinal vessel vascular tortuosity |
|
| C4021734 |
BXGD020742 |
Abnormality of mitochondrial metabolism |
|
| C4021759 |
BXGD020762 |
Generalized myoclonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4021795 |
BXGD020785 |
Abnormality of Krebs cycle metabolism |
|
| C4022012 |
BXGD020868 |
Death in early adulthood |
|
| C4022013 |
BXGD020869 |
Multiple glomerular cysts |
|
| C4022748 |
BXGD020979 |
Focal T2 hyperintense brainstem lesion |
|
| C4024926 |
BXGD021478 |
Focal T2 hyperintense basal ganglia lesion |
|
| C4025585 |
BXGD021678 |
Lacticaciduria |
Nutritional and Metabolic Diseases |
| C4025732 |
BXGD021764 |
Tubulointerstitial abnormality |
|
| C4025821 |
BXGD021809 |
Anterior hypopituitarism |
Nervous System Diseases; Endocrine System Diseases |
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4520679 |
BXGD023033 |
Abnormal macular morphology |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4521256 |
BXGD023058 |
Glomerulopathy Assessment |
|
| C4531122 |
BXGD023190 |
Abnormal speech prosody |
|
| C4551472 |
BXGD023303 |
Hypertrophic obstructive cardiomyopathy |
Cardiovascular Diseases |
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4551714 |
BXGD023398 |
Rod-Cone Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4553765 |
BXGD023551 |
Memory Impairment, CTCAE 5.0 |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |
| C4722144 |
BXGD023790 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 (finding) |
|