| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0003028 |
BXGD000170 |
Anhidrosis |
Skin and Connective Tissue Diseases |
| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004158 |
BXGD000261 |
Athetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0009024 |
BXGD000578 |
Clonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| 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 |
| C0013144 |
BXGD000800 |
Drowsiness |
Mental Disorders |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0020072 |
BXGD001357 |
Hereditary Sensory Autonomic Neuropathy, Type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020458 |
BXGD001393 |
Hyperhidrosis disorder |
Skin and Connective Tissue Diseases |
| C0024003 |
BXGD001726 |
Lordosis |
Musculoskeletal 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 |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
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 |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0030486 |
BXGD002229 |
Paraplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0030578 |
BXGD002243 |
Paronychia Inflammation |
Infections; Skin and Connective Tissue Diseases |
| C0031117 |
BXGD002285 |
Peripheral Neuropathy |
Nervous System Diseases |
| C0032927 |
BXGD002381 |
Precancerous Conditions |
Neoplasms |
| C0034152 |
BXGD002467 |
Henoch-Schoenlein Purpura |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0035372 |
BXGD002544 |
Rett Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| 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 |
| C0037769 |
BXGD002701 |
West Syndrome |
Nervous System Diseases |
| C0037771 |
BXGD002702 |
Paraparesis, Spastic |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| 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 |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0041341 |
BXGD002918 |
Tuberous Sclerosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0085649 |
BXGD003222 |
Peripheral edema |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Cardiovascular Diseases |
| C0085996 |
BXGD003260 |
Child Development Deviations |
Mental Disorders |
| C0085997 |
BXGD003261 |
Child Development Disorders, Specific |
Mental Disorders |
| C0086692 |
BXGD003306 |
Benign Neoplasm |
Neoplasms |
| C0087012 |
BXGD003318 |
Ataxia, Spinocerebellar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0151313 |
BXGD003413 |
Sensory neuropathy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151572 |
BXGD003442 |
Reflex, Corneal, Decreased |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151860 |
BXGD003490 |
Acquired porencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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 |
| C0151934 |
BXGD003504 |
Hypogeusia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0162285 |
BXGD003928 |
Edema of eyelid |
Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases |
| C0231686 |
BXGD004508 |
Gait, Unsteady |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0231687 |
BXGD004509 |
Spastic gait |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0231698 |
BXGD004517 |
Gait, Scissors |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0233514 |
BXGD004584 |
Abnormal behavior |
Behavior and Behavior Mechanisms |
| C0234146 |
BXGD004626 |
Absent reflex |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234162 |
BXGD004627 |
Cerebellar Dysmetria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234649 |
BXGD004692 |
Abnormal saccadic eye movement |
|
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0238651 |
BXGD004951 |
Ankle clonus |
|
| C0240379 |
BXGD005033 |
Open mouth (finding) |
|
| C0259749 |
BXGD005216 |
Autonomic neuropathy |
Nervous System Diseases |
| C0266589 |
BXGD005698 |
Congenital ear anomaly NOS (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases |
| C0268119 |
BXGD005821 |
Combined molybdoflavoprotein enzyme deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0269269 |
BXGD006058 |
Inversion of nipple (disorder) |
Skin and Connective Tissue Diseases |
| C0270914 |
BXGD006131 |
Hereditary Motor and Sensory-Neuropathy Type II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0270921 |
BXGD006133 |
Axonal neuropathy |
Nervous System Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0376480 |
BXGD007998 |
Gingival Overgrowth |
Stomatognathic Diseases |
| C0393556 |
BXGD008089 |
Complicated hereditary spastic paraplegia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426886 |
BXGD008594 |
Tapering fingers (finding) |
|
| C0431370 |
BXGD008675 |
Atrophy of corpus callosum |
Nervous System Diseases |
| C0442874 |
BXGD008814 |
Neuropathy |
Nervous System Diseases |
| C0497202 |
BXGD009055 |
Abnormal ocular motility |
|
| C0524528 |
BXGD009229 |
Pervasive Development Disorder |
Mental Disorders |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0574002 |
BXGD009497 |
Edema of foot (finding) |
Pathological Conditions, Signs and Symptoms |
| C0596887 |
BXGD009648 |
mathematical ability |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684276 |
BXGD009793 |
Hypsarrhythmia |
Nervous System Diseases |
| C0699739 |
BXGD009861 |
Sensory Neuropathy, Hereditary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0742028 |
BXGD010051 |
Cerebellar vermis atrophy |
|
| C0751602 |
BXGD010520 |
Hereditary Autosomal Dominant Spastic Paraplegia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0917990 |
BXGD011424 |
Acro-Osteolysis |
Musculoskeletal Diseases |
| C1096063 |
BXGD011600 |
Drug Resistant Epilepsy |
Nervous System Diseases |
| C1112256 |
BXGD011655 |
Sensorimotor neuropathy |
|
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1263857 |
BXGD011900 |
Peripheral axonal neuropathy |
Nervous System Diseases |
| C1271100 |
BXGD012007 |
Lower limb spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1833225 |
BXGD013904 |
Dystrophic toenail |
|
| C1835265 |
BXGD014022 |
Lymphedema, microcephaly and chorioretinopathy syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases |
| C1835896 |
BXGD014064 |
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1836296 |
BXGD014105 |
Muscle Weakness Lower Limb |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836696 |
BXGD014151 |
Lower limb hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1837602 |
BXGD014250 |
Painless fractures due to injury |
|
| C1839630 |
BXGD014391 |
Severe muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1843663 |
BXGD014600 |
Urinary bladder sphincter dysfunction |
|
| C1846460 |
BXGD014820 |
Abnormality of the outer ear |
|
| C1847584 |
BXGD014876 |
Distal sensory impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1848735 |
BXGD014969 |
Developmental delay, mild |
|
| C1848736 |
BXGD014970 |
Distal amyotrophy |
|
| C1849148 |
BXGD015014 |
Decreased sensory nerve conduction velocity |
|
| C1850055 |
BXGD015102 |
PEHO syndrome |
Eye Diseases; Nervous System Diseases |
| C1852289 |
BXGD015270 |
Autoamputation of digits |
Musculoskeletal Diseases |
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1853761 |
BXGD015359 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854418 |
BXGD015402 |
Biparietal narrowing |
|
| C1854465 |
BXGD015405 |
TUBEROUS SCLEROSIS 1 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C1854494 |
BXGD015409 |
Slow progression |
|
| C1854699 |
BXGD015425 |
Diffuse cerebellar atrophy |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1855483 |
BXGD015501 |
Progressive spastic paraplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1857108 |
BXGD015677 |
Limitation of joint mobility |
|
| C1857171 |
BXGD015680 |
Episodic hyperhidrosis |
Skin and Connective Tissue Diseases |
| C1857640 |
BXGD015726 |
Decreased nerve conduction velocity |
|
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858285 |
BXGD015781 |
Decreased number of peripheral myelinated nerve fibers |
|
| C1858712 |
BXGD015821 |
Spastic paraplegia 10, autosomal dominant |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1860834 |
BXGD016006 |
Infantile muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1864929 |
BXGD016274 |
Cerebellar atrophy, progressive |
|
| C1866231 |
BXGD016388 |
Full cheeks |
|
| C2674432 |
BXGD017246 |
Reduced bone mineral density |
|
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2752089 |
BXGD017768 |
Neuropathy, Hereditary Sensory And Autonomic, Type IIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2830004 |
BXGD017804 |
Somnolence |
Pathological Conditions, Signs and Symptoms |
| C2931822 |
BXGD018068 |
Nasopharyngeal carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C3161330 |
BXGD018511 |
Profound intellectual disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3280168 |
BXGD018811 |
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC |
|
| C3280283 |
BXGD018818 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 |
|
| C3551426 |
BXGD019146 |
Dystrophic fingernails |
|
| 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 |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3806482 |
BXGD019514 |
Recurrent respiratory infections |
Infections; Respiratory Tract Diseases |
| C3887709 |
BXGD019918 |
Optic Neuropathy |
Eye Diseases; Nervous System Diseases |
| C3887898 |
BXGD019926 |
Infantile Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4021611 |
BXGD020697 |
Abnormality of epiphysis morphology |
|
| C4021735 |
BXGD020743 |
Abnormality of the hip bone |
|
| C4021741 |
BXGD020749 |
Abnormal cortical bone morphology |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4021815 |
BXGD020801 |
Abnormal palate morphology |
|
| C4024610 |
BXGD021341 |
Leg muscle stiffness |
|
| C4024896 |
BXGD021461 |
Motor neuron atrophy |
|
| C4024900 |
BXGD021463 |
Atrophy/Degeneration affecting the brainstem |
|
| C4024921 |
BXGD021475 |
Lower limb amyotrophy |
|
| C4025660 |
BXGD021715 |
Abnormality of the ankles |
|
| C4025676 |
BXGD021727 |
Abnormality of the knee |
|
| C4025744 |
BXGD021771 |
Foot acroosteolysis |
|
| C4025884 |
BXGD021844 |
Abnormality of upper lip |
|
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4082169 |
BXGD022084 |
Metatarsus Varus |
Musculoskeletal Diseases |
| C4082172 |
BXGD022086 |
Porencephalic cyst |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4551492 |
BXGD023317 |
Micropenis |
|
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |
| C4732740 |
BXGD023896 |
Acral ulceration |
|