| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000921 |
BXGD000019 |
Accidental Falls |
|
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0006157 |
BXGD000377 |
Breech Presentation |
Female Urogenital Diseases and Pregnancy Complications |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007140 |
BXGD000447 |
Carcinosarcoma |
Neoplasms |
| C0007959 |
BXGD000507 |
Charcot-Marie-Tooth Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011195 |
BXGD000702 |
Dejerine-Sottas Disease (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0014740 |
BXGD000944 |
Erythema Chronicum Migrans |
Infections; Skin and Connective Tissue Diseases |
| C0016506 |
BXGD001062 |
Foot Deformities |
Musculoskeletal Diseases |
| C0017677 |
BXGD001147 |
Glossitis, Benign Migratory |
Stomatognathic Diseases |
| C0018203 |
BXGD001184 |
Chronic granulomatous disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0019163 |
BXGD001295 |
Hepatitis B |
Digestive System Diseases; Infections |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0019555 |
BXGD001334 |
Hip Dislocation, Congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries |
| C0020456 |
BXGD001392 |
Hyperglycemia |
Nutritional and Metabolic Diseases |
| C0020459 |
BXGD001394 |
Hyperinsulinism |
Nutritional and Metabolic Diseases |
| C0020580 |
BXGD001435 |
Hypesthesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0020796 |
BXGD001468 |
Profound Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0022680 |
BXGD001576 |
Polycystic Kidney Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0024003 |
BXGD001726 |
Lordosis |
Musculoskeletal Diseases |
| C0024198 |
BXGD001743 |
Lyme Disease |
Infections |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0025362 |
BXGD001866 |
Mental Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025363 |
BXGD001867 |
Mental Retardation, Psychosocial |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026847 |
BXGD001940 |
Spinal Muscular Atrophy |
Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027888 |
BXGD002056 |
Hereditary Motor and Sensory Neuropathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0029423 |
BXGD002143 |
Cartilaginous exostosis |
Neoplasms; Musculoskeletal Diseases |
| C0030552 |
BXGD002238 |
Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0035372 |
BXGD002544 |
Rett Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0036323 |
BXGD002595 |
Schistosomiasis |
Infections |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037317 |
BXGD002689 |
Sleep disturbances |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037772 |
BXGD002703 |
Spastic Paraplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037773 |
BXGD002704 |
Spastic Paraplegia, Hereditary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039128 |
BXGD002794 |
Syphilis |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0039273 |
BXGD002806 |
Talipes cavus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0040558 |
BXGD002873 |
Toxoplasmosis |
Infections |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| C0042769 |
BXGD002999 |
Virus Diseases |
Infections |
| C0043116 |
BXGD003028 |
HMN (Hereditary Motor Neuropathy) Proximal Type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0079774 |
BXGD003101 |
Peripheral T-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0085084 |
BXGD003121 |
Motor Neuron Disease |
Nervous System Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| 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 |
| C0152109 |
BXGD003542 |
Juvenile Spinal Muscular Atrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0205713 |
BXGD004114 |
Roussy-Levy Syndrome (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0221505 |
BXGD004466 |
Lesion of brain |
|
| C0231688 |
BXGD004510 |
Gait, Shuffling |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0231712 |
BXGD004519 |
Waddling gait |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0238462 |
BXGD004937 |
Medullary carcinoma of thyroid |
Neoplasms; Endocrine System Diseases |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0240543 |
BXGD005042 |
Bulbous nose |
|
| C0241726 |
BXGD005110 |
Delayed ability to walk |
|
| C0242381 |
BXGD005159 |
Lyme Arthritis |
Infections |
| C0265529 |
BXGD005542 |
Plagiocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266449 |
BXGD005670 |
Congenital anomaly of brain |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases |
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266483 |
BXGD005680 |
Pachygyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0270960 |
BXGD006141 |
Congenital myopathy (disorder) |
Musculoskeletal Diseases; Nervous System Diseases |
| C0271650 |
BXGD006227 |
Impaired glucose tolerance |
Nutritional and Metabolic Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0393538 |
BXGD008083 |
Muscular Atrophy, Spinal, Type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0393541 |
BXGD008084 |
Distal Spinal Muscular Atrophy |
Nervous System Diseases |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0427065 |
BXGD008604 |
Distal muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0431369 |
BXGD008674 |
Dysgenesis of corpus callosum |
|
| C0431380 |
BXGD008680 |
Cortical Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0442874 |
BXGD008814 |
Neuropathy |
Nervous System Diseases |
| C0454641 |
BXGD008848 |
Expressive language delay |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0520463 |
BXGD009085 |
Chronic active hepatitis |
Digestive System Diseases |
| C0520679 |
BXGD009101 |
Sleep Apnea, Obstructive |
Respiratory Tract Diseases; Nervous System Diseases |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0521659 |
BXGD009157 |
Motor Neuron Disease, Upper |
Nervous System Diseases |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0558844 |
BXGD009458 |
Knee reflex absent |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0558845 |
BXGD009459 |
Reflex, Ankle, Absent |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0560346 |
BXGD009475 |
Difficulty running |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0563243 |
BXGD009479 |
Poor coordination |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0587246 |
BXGD009616 |
Muscle weakness of limb |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0700595 |
BXGD009895 |
Spinal Muscular Atrophies of Childhood |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0728829 |
BXGD009917 |
Congenital pes cavus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0751265 |
BXGD010370 |
Learning Disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0751495 |
BXGD010473 |
Seizures, Focal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0795825 |
BXGD010741 |
Chromosome 8, trisomy 8p |
Pathological Conditions, Signs and Symptoms |
| C0850703 |
BXGD010905 |
Frequent falls |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0850705 |
BXGD010906 |
Adult Acquired Toxoplasmosis |
Infections |
| C0856169 |
BXGD011096 |
Endothelial dysfunction |
|
| C0856863 |
BXGD011122 |
Broad-based gait |
|
| C0917816 |
BXGD011419 |
Mental deficiency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1136179 |
BXGD011712 |
Hammer Toe |
Musculoskeletal Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332206 |
BXGD012504 |
Adult Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332979 |
BXGD012571 |
Childhood Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1408174 |
BXGD013034 |
Hypertrophic neuropathy of infancy |
|
| C1408182 |
BXGD013035 |
Hereditary motor and sensory neuropathy, types I-IV |
|
| C1567435 |
BXGD013413 |
Polycystic Kidney - body part |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1636149 |
BXGD013482 |
Macular dystrophy, corneal type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1834690 |
BXGD013988 |
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1836296 |
BXGD014105 |
Muscle Weakness Lower Limb |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836450 |
BXGD014117 |
Distal lower limb muscle weakness |
|
| C1836451 |
BXGD014118 |
Distal lower limb amyotrophy |
|
| C1836609 |
BXGD014138 |
Progressive distal muscle weakness |
|
| C1836767 |
BXGD014159 |
Proximal lower limb amyotrophy |
|
| C1837108 |
BXGD014199 |
Decreased muscle mass |
|
| C1837249 |
BXGD014210 |
Malformations of Cortical Development, Group II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837352 |
BXGD014223 |
Childhood onset |
|
| C1837407 |
BXGD014231 |
Ankle contracture |
|
| C1837658 |
BXGD014257 |
Gross motor development delay |
Mental Disorders |
| C1838391 |
BXGD014313 |
Limb hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1841984 |
BXGD014487 |
GLOMUVENOUS MALFORMATIONS |
Neoplasms |
| C1844820 |
BXGD014681 |
Range of joint movement increased |
|
| C1847584 |
BXGD014876 |
Distal sensory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1854494 |
BXGD015409 |
Slow progression |
|
| C1858729 |
BXGD015825 |
Decreased motor nerve conduction velocity |
|
| C1862941 |
BXGD016145 |
Amyotrophic Lateral Sclerosis, Sporadic |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1866010 |
BXGD016360 |
Proximal muscle weakness in lower limbs |
|
| C1868571 |
BXGD016508 |
Highly arched eyebrow |
|
| C1955869 |
BXGD016612 |
Malformations of Cortical Development |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1956147 |
BXGD016622 |
Microlissencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2875300 |
BXGD017836 |
Peroneal muscular atrophy (axonal type) (hypertrophic type) |
|
| C2931358 |
BXGD018008 |
Muscular atrophy, spinal, infantile chronic form |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2932678 |
BXGD018098 |
Inherited Peripheral Neuropathy |
Nervous System Diseases |
| C2938924 |
BXGD018167 |
Oestrogen receptor positive breast cancer |
|
| C3277184 |
BXGD018709 |
Decreased patellar reflex |
|
| C3277187 |
BXGD018710 |
Type 2 muscle fiber predominance |
|
| C3280220 |
BXGD018814 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O |
|
| C3281202 |
BXGD018890 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 |
|
| C3501843 |
BXGD019027 |
Nonmedullary Thyroid Carcinoma |
Neoplasms; Endocrine System Diseases |
| C3501844 |
BXGD019028 |
Familial Nonmedullary Thyroid Cancer |
Neoplasms; Endocrine System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3853041 |
BXGD019819 |
Severe Congenital Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C3887898 |
BXGD019926 |
Infantile Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4021727 |
BXGD020736 |
EMG: neuropathic changes |
|
| C4022667 |
BXGD020951 |
Small toe |
|
| C4022737 |
BXGD020973 |
Neurodevelopmental abnormality |
|
| C4023375 |
BXGD021167 |
Tibialis atrophy |
|
| C4024170 |
BXGD021297 |
Localized hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C4024896 |
BXGD021461 |
Motor neuron atrophy |
|
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|
| C4733092 |
BXGD023907 |
estrogen receptor-negative breast cancer |
|
| C4750288 |
BXGD024069 |
Spinal muscular atrophy with lower extremity predominance |
Nervous System Diseases |