| C0000737 |
BXGD000005 |
Abdominal Pain |
Pathological Conditions, Signs and Symptoms |
| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007760 |
BXGD000476 |
Cerebellar Diseases |
Nervous System Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009363 |
BXGD000599 |
Congenital ocular coloboma (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009952 |
BXGD000639 |
Febrile Convulsions |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine 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 |
| C0015967 |
BXGD001030 |
Fever |
Pathological Conditions, Signs and Symptoms |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0017668 |
BXGD001143 |
Focal glomerulosclerosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0019048 |
BXGD001270 |
Hemoglobinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020620 |
BXGD001448 |
Hypohidrosis |
Skin and Connective Tissue Diseases |
| C0023518 |
BXGD001677 |
Leukocytosis |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases |
| C0024667 |
BXGD001794 |
Animal Mammary Neoplasms |
Neoplasms; Animal Diseases |
| C0024668 |
BXGD001795 |
Mammary Neoplasms, Experimental |
Neoplasms |
| 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 |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026470 |
BXGD001903 |
Monoclonal Gammopathy of Undetermined Significance |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
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 |
| C0027066 |
BXGD001966 |
Myoclonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0030232 |
BXGD002197 |
Pallor |
Pathological Conditions, Signs and Symptoms |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0034013 |
BXGD002450 |
Precocious Puberty |
Endocrine System Diseases |
| C0035309 |
BXGD002530 |
Retinal Diseases |
Eye Diseases |
| C0035335 |
BXGD002540 |
Retinoblastoma |
Neoplasms; Eye Diseases |
| 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 |
| C0037317 |
BXGD002689 |
Sleep disturbances |
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037769 |
BXGD002701 |
West Syndrome |
Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0041341 |
BXGD002918 |
Tuberous Sclerosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0041960 |
BXGD002943 |
Ureterocele |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0085271 |
BXGD003148 |
Self-Injurious Behavior |
Behavior and Behavior Mechanisms |
| C0085583 |
BXGD003194 |
Choreoathetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152018 |
BXGD003518 |
Esophageal carcinoma |
Digestive System Diseases; Neoplasms |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0154832 |
BXGD003747 |
Exudative retinopathy |
Eye Diseases; Cardiovascular Diseases |
| C0162635 |
BXGD003964 |
Angelman Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0205696 |
BXGD004107 |
Anaplastic carcinoma |
Neoplasms |
| C0205697 |
BXGD004108 |
Carcinoma, Spindle-Cell |
Neoplasms |
| C0205698 |
BXGD004109 |
Undifferentiated carcinoma |
Neoplasms |
| C0205699 |
BXGD004110 |
Carcinomatosis |
Neoplasms |
| C0206160 |
BXGD004166 |
Reticulocytosis |
Pathological Conditions, Signs and Symptoms |
| C0206685 |
BXGD004240 |
Acinar Cell Carcinoma |
Neoplasms |
| C0220769 |
BXGD004343 |
FG syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases |
| C0221013 |
BXGD004363 |
Mastocytosis, Systemic |
Neoplasms; Immune System Diseases |
| C0221278 |
BXGD004435 |
Anisocytosis |
|
| C0221281 |
BXGD004436 |
Poikilocytosis |
|
| C0235831 |
BXGD004773 |
Renal Cell Dysplasia |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0239594 |
BXGD004987 |
Short finger |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0240896 |
BXGD005059 |
Fundus coloboma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266449 |
BXGD005670 |
Congenital anomaly of brain |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases |
| C0266468 |
BXGD005677 |
Congenital pontocerebellar hypoplasia |
Nervous System Diseases |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0266483 |
BXGD005680 |
Pachygyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266617 |
BXGD005700 |
Congenital anomaly of face |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0268306 |
BXGD005891 |
Unconjugated hyperbilirubinemia |
Pathological Conditions, Signs and Symptoms |
| C0270846 |
BXGD006116 |
Epileptic drop attack |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0302142 |
BXGD006831 |
Deformity |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0334357 |
BXGD007043 |
Papillary cystic tumor |
Neoplasms |
| C0338502 |
BXGD007192 |
Hypoplasia of the optic nerve |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0345958 |
BXGD007751 |
Large cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0393706 |
BXGD008126 |
Early infantile epileptic encephalopathy with suppression bursts |
Nervous System Diseases |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426429 |
BXGD008564 |
Broad nasal tip |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454651 |
BXGD008851 |
Specific language impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0524528 |
BXGD009229 |
Pervasive Development Disorder |
Mental Disorders |
| C0553699 |
BXGD009410 |
Heinz body observation |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0585539 |
BXGD009597 |
X-Linked Infantile Nystagmus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598275 |
BXGD009664 |
Diffuse cerebral atrophy |
Nervous System Diseases; Mental Disorders |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684276 |
BXGD009793 |
Hypsarrhythmia |
Nervous System Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0700201 |
BXGD009880 |
Dyssomnias |
Nervous System Diseases; Mental Disorders |
| C0700501 |
BXGD009892 |
Congenital nystagmus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0796250 |
BXGD010826 |
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0851578 |
BXGD010925 |
Sleep Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C1136249 |
BXGD011715 |
Mental Retardation, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1257925 |
BXGD011814 |
Mammary Carcinoma, Animal |
Neoplasms; Animal Diseases |
| C1261175 |
BXGD011850 |
Pontoneocerebellar hypoplasia |
|
| C1262477 |
BXGD011882 |
Weight decreased |
Pathological Conditions, Signs and Symptoms |
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1527366 |
BXGD013280 |
Salaam Seizures |
Nervous System Diseases |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1720189 |
BXGD013668 |
Episodic Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836508 |
BXGD014124 |
Generalized tonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1837218 |
BXGD014207 |
Cleft palate, isolated |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1844548 |
BXGD014642 |
Hypoplastic finger |
|
| C1844906 |
BXGD014692 |
Broad finger |
|
| C1845546 |
BXGD014752 |
FG SYNDROME 4 (disorder) |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases |
| C1845567 |
BXGD014753 |
FG SYNDROME 3 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases |
| C1845902 |
BXGD014767 |
FG SYNDROME 2 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases |
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1847117 |
BXGD014852 |
Dilated fourth ventricle |
|
| C1847879 |
BXGD014895 |
X-linked dominant inheritance |
|
| C1849025 |
BXGD014997 |
Oval face |
|
| C1849089 |
BXGD015004 |
Broad forehead |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1850456 |
BXGD015146 |
Progressive microcephaly |
|
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1855852 |
BXGD015554 |
Abnormally large globe |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859236 |
BXGD015867 |
Prolonged neonatal jaundice |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1860834 |
BXGD016006 |
Infantile muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1956147 |
BXGD016622 |
Microlissencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1969156 |
BXGD016761 |
EEG with burst suppression |
|
| C1969653 |
BXGD016787 |
MUNGAN SYNDROME |
Digestive System Diseases; Neoplasms |
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2677180 |
BXGD017366 |
Congenital microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C2677903 |
BXGD017392 |
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C2697573 |
BXGD017429 |
Heinz-Ehrlich Body Measurement |
|
| C2698117 |
BXGD017446 |
Anisocyte Measurement |
|
| C2720289 |
BXGD017531 |
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3495676 |
BXGD019000 |
Anorectal Malformations |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C3536714 |
BXGD019069 |
Renal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3540764 |
BXGD019092 |
Coloboma of the Retina |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
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 |
| 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 |
| C4021648 |
BXGD020718 |
Fava bean-induced hemolytic anemia |
Hemic and Lymphatic Diseases |
| C4022849 |
BXGD021012 |
Absent thumbnail |
|
| C4023484 |
BXGD021201 |
Uni- and bilateral multifocal epileptiform discharges |
|
| C4023499 |
BXGD021204 |
Generalized clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4023683 |
BXGD021240 |
EEG with spike-wave complexes |
|
| C4023986 |
BXGD021282 |
Broad phalanx of the toes |
|
| C4024923 |
BXGD021476 |
Diffuse white matter abnormalities |
Pathological Conditions, Signs and Symptoms |
| C4049830 |
BXGD021953 |
Focal seizures, afebril |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|
| C4552072 |
BXGD023482 |
X-linked infantile spasms |
Nervous System Diseases |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|