| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0002886 |
BXGD000144 |
Anemia, Macrocytic |
Hemic and Lymphatic Diseases |
| C0002962 |
BXGD000160 |
Angina Pectoris |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0003463 |
BXGD000192 |
Anus Neoplasms |
Digestive System Diseases; Neoplasms |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006157 |
BXGD000377 |
Breech Presentation |
Female Urogenital Diseases and Pregnancy Complications |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0007222 |
BXGD000454 |
Cardiovascular Diseases |
Cardiovascular Diseases |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0007787 |
BXGD000487 |
Transient Ischemic Attack |
Nervous System Diseases; Cardiovascular Diseases |
| C0009319 |
BXGD000596 |
Colitis |
Digestive System Diseases |
| C0009398 |
BXGD000604 |
Color vision defect |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009691 |
BXGD000622 |
Congenital cataract |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases |
| C0010054 |
BXGD000647 |
Coronary Arteriosclerosis |
Cardiovascular Diseases |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| C0010073 |
BXGD000650 |
Coronary Artery Vasospasm |
Cardiovascular Diseases |
| C0011053 |
BXGD000694 |
Deafness |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011265 |
BXGD000708 |
Presenile dementia |
Nervous System Diseases; Mental Disorders |
| C0011334 |
BXGD000716 |
Dental caries |
Stomatognathic Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013261 |
BXGD000807 |
Duane Retraction Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0014070 |
BXGD000887 |
Encephalomyelitis |
Infections; Nervous System Diseases |
| C0015230 |
BXGD000969 |
Exanthema |
Skin and Connective Tissue Diseases |
| C0015397 |
BXGD000983 |
Disorder of eye |
Eye Diseases |
| C0015398 |
BXGD000984 |
Eye Diseases, Hereditary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0015695 |
BXGD001013 |
Fatty Liver |
Digestive System Diseases |
| C0015696 |
BXGD001014 |
Fatty Liver, Alcoholic |
Digestive System Diseases; Chemically-Induced Disorders |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017612 |
BXGD001129 |
Glaucoma, Open-Angle |
Eye Diseases |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018524 |
BXGD001200 |
Hallucinations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0018780 |
BXGD001218 |
Hearing Loss, High-Frequency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018798 |
BXGD001223 |
Congenital Heart Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018800 |
BXGD001225 |
Cardiomegaly |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0018801 |
BXGD001226 |
Heart failure |
Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018989 |
BXGD001263 |
Hemiparesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0019151 |
BXGD001290 |
Hepatic Encephalopathy |
Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0019202 |
BXGD001302 |
Hepatolenticular Degeneration |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0020179 |
BXGD001363 |
Huntington Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0020456 |
BXGD001392 |
Hyperglycemia |
Nutritional and Metabolic Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020557 |
BXGD001432 |
Hypertriglyceridemia |
Nutritional and Metabolic Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0021670 |
BXGD001509 |
insulinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027121 |
BXGD001973 |
Myositis |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027873 |
BXGD002054 |
Neuromyelitis Optica |
Eye Diseases; Immune System Diseases; Nervous System Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028840 |
BXGD002089 |
Ocular Hypertension |
Eye Diseases |
| C0029089 |
BXGD002107 |
Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029125 |
BXGD002114 |
Optic Atrophies, Hereditary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0029132 |
BXGD002117 |
Disorder of the optic nerve |
Eye Diseases; Nervous System Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0030232 |
BXGD002197 |
Pallor |
Pathological Conditions, Signs and Symptoms |
| C0030552 |
BXGD002238 |
Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0031117 |
BXGD002285 |
Peripheral Neuropathy |
Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0035304 |
BXGD002528 |
Retinal Degeneration |
Eye Diseases |
| C0035455 |
BXGD002554 |
Rhinitis |
Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037772 |
BXGD002703 |
Spastic Paraplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; 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 |
| C0042798 |
BXGD003003 |
Low Vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0085636 |
BXGD003218 |
Photophobia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0086743 |
BXGD003308 |
Osteoarthrosis Deformans |
Musculoskeletal Diseases |
| C0149931 |
BXGD003388 |
Migraine Disorders |
Nervous System Diseases |
| C0151744 |
BXGD003469 |
Myocardial Ischemia |
Cardiovascular Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151818 |
BXGD003480 |
Opisthotonus |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152025 |
BXGD003521 |
Polyneuropathy |
Nervous System Diseases |
| C0152136 |
BXGD003548 |
Low Tension Glaucoma |
Eye Diseases |
| C0152191 |
BXGD003556 |
Scotoma, Central |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0155016 |
BXGD003765 |
Color Blindness, Red-Green |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0155017 |
BXGD003766 |
Color Blindness, Blue |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0158266 |
BXGD003878 |
Intervertebral Disc Degeneration |
Musculoskeletal Diseases |
| C0162292 |
BXGD003930 |
External Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0162666 |
BXGD003967 |
Mitochondrial Encephalomyopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0162670 |
BXGD003970 |
Mitochondrial Myopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System 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 |
| C0221061 |
BXGD004385 |
Behr syndrome |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms |
| C0231528 |
BXGD004496 |
Myalgia |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0234132 |
BXGD004623 |
Pyramidal sign |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234146 |
BXGD004626 |
Absent reflex |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234162 |
BXGD004627 |
Cerebellar Dysmetria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234632 |
BXGD004691 |
Reduced visual acuity |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0234860 |
BXGD004698 |
Weak cry |
|
| C0234958 |
BXGD004702 |
Muscle degeneration |
Musculoskeletal Diseases |
| C0235031 |
BXGD004714 |
Neurologic Symptoms |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0240953 |
BXGD005067 |
Winged scapula |
|
| C0242225 |
BXGD005143 |
Color blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0242422 |
BXGD005163 |
Parkinsonian Disorders |
Nervous System Diseases |
| C0242488 |
BXGD005170 |
Acute Lung Injury |
Respiratory Tract Diseases |
| C0264714 |
BXGD005416 |
Acute heart failure |
Cardiovascular Diseases |
| C0265325 |
BXGD005516 |
Turcot syndrome (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases |
| C0268237 |
BXGD005861 |
Cytochrome-c Oxidase Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0271183 |
BXGD006169 |
Severe myopia |
Eye Diseases |
| C0271196 |
BXGD006171 |
Scotoma, Centrocecal |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0271215 |
BXGD006175 |
Blindness, Legal |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0271385 |
BXGD006193 |
Horizontal Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0271568 |
BXGD006214 |
Laron Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0271650 |
BXGD006227 |
Impaired glucose tolerance |
Nutritional and Metabolic Diseases |
| C0338508 |
BXGD007196 |
Optic Atrophy 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C0339573 |
BXGD007271 |
Glaucoma, Primary Open Angle |
Eye Diseases |
| C0342782 |
BXGD007549 |
Depletion of mitochondrial DNA |
|
| C0344299 |
BXGD007663 |
Temporal pallor of optic disc |
Eye Diseases; Nervous System Diseases |
| C0375023 |
BXGD007970 |
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site |
|
| C0410264 |
BXGD008423 |
Contracture of tendo achilles |
|
| C0410266 |
BXGD008424 |
Contracture of hamstring(s) |
Musculoskeletal Diseases |
| C0427055 |
BXGD008601 |
Facial Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0428883 |
BXGD008639 |
Diastolic blood pressure |
|
| C0431370 |
BXGD008675 |
Atrophy of corpus callosum |
Nervous System Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0442874 |
BXGD008814 |
Neuropathy |
Nervous System Diseases |
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0521694 |
BXGD009164 |
Atrophic retina |
Eye Diseases |
| C0521707 |
BXGD009166 |
Bilateral cataracts (disorder) |
Eye Diseases |
| C0522214 |
BXGD009196 |
Abnormal visual evoked potential |
Nervous System Diseases |
| C0522216 |
BXGD009197 |
Abnormal auditory evoked potential |
|
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0574084 |
BXGD009502 |
3-Methylglutaconic aciduria type 3 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0595921 |
BXGD009626 |
Intraocular pressure disorder |
Eye Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0596887 |
BXGD009648 |
mathematical ability |
|
| C0600519 |
BXGD009712 |
Ventricular Remodeling |
Pathological Conditions, Signs and Symptoms |
| C0600520 |
BXGD009713 |
Left Ventricle Remodeling |
Pathological Conditions, Signs and Symptoms |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0730309 |
BXGD009954 |
Inherited optic neuropathy |
Eye Diseases; Nervous System Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0848771 |
BXGD010886 |
neurological disability |
|
| C0853897 |
BXGD010985 |
Diabetic Cardiomyopathies |
Endocrine System Diseases; Cardiovascular Diseases |
| C0858618 |
BXGD011184 |
Dyschromatopsia |
|
| C0872084 |
BXGD011319 |
Sarcopenia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0917796 |
BXGD011408 |
Optic Atrophy, Hereditary, Leber |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1112256 |
BXGD011655 |
Sensorimotor neuropathy |
|
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1258666 |
BXGD011825 |
Myxoid cyst |
Neoplasms; Skin and Connective Tissue Diseases |
| C1263857 |
BXGD011900 |
Peripheral axonal neuropathy |
Nervous System Diseases |
| C1269683 |
BXGD012001 |
Major Depressive Disorder |
Mental Disorders |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1300257 |
BXGD012273 |
Thanatophoric dysplasia, type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1301509 |
BXGD012294 |
Severe visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1389280 |
BXGD012967 |
Basal ganglia calcification |
|
| C1449563 |
BXGD013086 |
Cardiomyopathy, Familial Idiopathic |
Cardiovascular Diseases |
| C1691779 |
BXGD013493 |
Sensory hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1735375 |
BXGD013709 |
Progressive optic neuropathy |
|
| C1832466 |
BXGD013847 |
CAPOS syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1837522 |
BXGD014244 |
Impaired pain sensation |
|
| C1839364 |
BXGD014371 |
Progressive visual loss |
|
| C1843156 |
BXGD014561 |
Progressive sensorineural hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1843700 |
BXGD014604 |
Increased variability in muscle fiber diameter |
|
| C1846564 |
BXGD014828 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1847730 |
BXGD014885 |
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding) |
|
| C1852267 |
BXGD015267 |
OPTIC ATROPHY 1 AND DEAFNESS |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1852271 |
BXGD015268 |
Auditory neuropathy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1856689 |
BXGD015630 |
FRIEDREICH ATAXIA 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1857640 |
BXGD015726 |
Decreased nerve conduction velocity |
|
| C1859520 |
BXGD015907 |
Progressive spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1859524 |
BXGD015909 |
Adductor longus contractures |
|
| C1866934 |
BXGD016427 |
Reduced tendon reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1955603 |
BXGD016603 |
Deaf-Blind Disorders |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1956346 |
BXGD016627 |
Coronary Artery Disease |
Cardiovascular Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2673431 |
BXGD017202 |
Abnormality of the periventricular white matter |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2732267 |
BXGD017551 |
Auditory neuropathy spectrum disorder |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C2931189 |
BXGD017972 |
Neural crest tumor |
Neoplasms; Endocrine System Diseases |
| C3276549 |
BXGD018691 |
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY |
|
| C3532239 |
BXGD019055 |
Mitochondrial cardiomyopathy |
|
| C3553450 |
BXGD019175 |
Profound global developmental delay |
|
| C3554721 |
BXGD019236 |
Morning glory anomaly |
|
| 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 |
| C3714534 |
BXGD019411 |
dowling-degos disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3887709 |
BXGD019918 |
Optic Neuropathy |
Eye Diseases; Nervous System Diseases |
| C3888962 |
BXGD019996 |
POLG mutation |
|
| C4021085 |
BXGD020544 |
Abnormality of brain morphology |
|
| C4024900 |
BXGD021463 |
Atrophy/Degeneration affecting the brainstem |
|
| C4025834 |
BXGD021818 |
Abnormal amplitude of pattern reversal visual evoked potentials |
|
| C4225163 |
BXGD022164 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) |
|
| C4275164 |
BXGD022366 |
Autosomal dominant optic atrophy plus syndrome |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C4551472 |
BXGD023303 |
Hypertrophic obstructive cardiomyopathy |
Cardiovascular Diseases |
| C4551508 |
BXGD023328 |
Dominant hereditary optic atrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4727070 |
BXGD023851 |
Advanced Carcinoma |
|