| C0001807 |
BXGD000077 |
Aggressive behavior |
Behavior and Behavior Mechanisms |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0005684 |
BXGD000319 |
Malignant neoplasm of urinary bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005695 |
BXGD000323 |
Bladder Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0008489 |
BXGD000546 |
Chorea |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0010495 |
BXGD000674 |
Cutis Laxa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0013384 |
BXGD000826 |
Dyskinetic syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0020490 |
BXGD001403 |
Hyperopia |
Eye Diseases |
| C0020505 |
BXGD001412 |
Hyperphagia |
Pathological Conditions, Signs and Symptoms |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020796 |
BXGD001468 |
Profound Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0021125 |
BXGD001483 |
Impulsive Behavior |
Behavior and Behavior Mechanisms |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| 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 |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System 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 |
| C0038271 |
BXGD002742 |
Stereotyped Behavior |
Behavior and Behavior Mechanisms |
| C0038273 |
BXGD002743 |
Stereotypic Movement Disorder |
Mental Disorders |
| C0039075 |
BXGD002788 |
Syndactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0221757 |
BXGD004472 |
alpha 1-Antitrypsin Deficiency |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0234379 |
BXGD004662 |
Resting Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234533 |
BXGD004687 |
Generalized seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0242172 |
BXGD005138 |
Pelvic Inflammatory Disease |
Female Urogenital Diseases and Pregnancy Complications; Infections |
| C0262630 |
BXGD005262 |
Reduced concentration span |
Behavior and Behavior Mechanisms |
| C0266037 |
BXGD005611 |
Peg-shaped teeth |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0269269 |
BXGD006058 |
Inversion of nipple (disorder) |
Skin and Connective Tissue Diseases |
| C0282577 |
BXGD006816 |
Congenital Disorders of Glycosylation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0424230 |
BXGD008522 |
Motor retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0426415 |
BXGD008560 |
Large nose |
|
| C0426421 |
BXGD008561 |
Wide nose |
|
| C0431371 |
BXGD008676 |
Absence of septum pellucidum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431380 |
BXGD008680 |
Cortical Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0546964 |
BXGD009348 |
Genu recurvatum |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684276 |
BXGD009793 |
Hypsarrhythmia |
Nervous System Diseases |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0700201 |
BXGD009880 |
Dyssomnias |
Nervous System Diseases; Mental Disorders |
| C0745744 |
BXGD010133 |
End Stage Liver Disease |
Digestive System Diseases |
| C0751495 |
BXGD010473 |
Seizures, Focal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0851578 |
BXGD010925 |
Sleep Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0856863 |
BXGD011122 |
Broad-based gait |
|
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C0917816 |
BXGD011419 |
Mental deficiency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1142533 |
BXGD011758 |
Smooth philtrum |
|
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1527366 |
BXGD013280 |
Salaam Seizures |
Nervous System Diseases |
| C1832446 |
BXGD013844 |
Sparse eyebrow |
|
| C1836047 |
BXGD014074 |
Long face |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836543 |
BXGD014130 |
Thick vermilion border |
|
| C1837402 |
BXGD014228 |
Flat occiput |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1842836 |
BXGD014539 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1844505 |
BXGD014633 |
Pointed chin |
|
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853246 |
BXGD015323 |
Eversion of lower lip |
|
| C1853738 |
BXGD015357 |
Long eyelashes |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1856121 |
BXGD015578 |
Broad eyebrow |
|
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859470 |
BXGD015896 |
Large basal ganglia |
|
| C1860834 |
BXGD016006 |
Infantile muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1861975 |
BXGD016095 |
Cafe au lait spots, multiple |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1868720 |
BXGD016531 |
Periventricular Nodular Heterotopia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2315100 |
BXGD017021 |
Pediatric failure to thrive |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders |
| C2749688 |
BXGD017633 |
Abnormal isoelectric focusing of serum transferrin |
|
| C2985280 |
BXGD018223 |
Blood Protein Measurement |
|
| C3280127 |
BXGD018806 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 |
|
| C3280131 |
BXGD018807 |
Long eyebrows |
|
| C3550430 |
BXGD019135 |
Eclabion |
|
| C3697248 |
BXGD019355 |
Short lower third of face |
|
| 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 |
| C4021094 |
BXGD020549 |
Type II transferrin isoform profile |
|
| C4021219 |
BXGD020582 |
Multifocal epileptiform discharges |
|
| C4021227 |
BXGD020587 |
Underdeveloped nasolabial fold |
|
| C4023694 |
BXGD021246 |
Abnormal position of hair whorl |
|
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4551560 |
BXGD023349 |
Truncal obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C4551570 |
BXGD023357 |
2-3 toe syndactyly |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|