| C0001807 |
BXGD000077 |
Aggressive behavior |
Behavior and Behavior Mechanisms |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0011265 |
BXGD000708 |
Presenile dementia |
Nervous System Diseases; Mental Disorders |
| C0011853 |
BXGD000752 |
Diabetes Mellitus, Experimental |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0023904 |
BXGD001721 |
Liver Neoplasms, Experimental |
Digestive System Diseases; Neoplasms |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0024530 |
BXGD001783 |
Malaria |
Infections |
| 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 |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0025521 |
BXGD001876 |
Inborn Errors of Metabolism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0027066 |
BXGD001966 |
Myoclonus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0041318 |
BXGD002909 |
Tuberculosis, Meningeal |
Infections; Nervous System Diseases |
| C0086439 |
BXGD003284 |
Hypokinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151818 |
BXGD003480 |
Opisthotonus |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0206687 |
BXGD004242 |
Carcinoma, Endometrioid |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0241237 |
BXGD005088 |
Difficulty standing |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0268119 |
BXGD005821 |
Combined molybdoflavoprotein enzyme deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0268124 |
BXGD005825 |
Adenosine deaminase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases |
| C0268126 |
BXGD005827 |
Adenylosuccinate lyase deficiency (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders |
| C0268547 |
BXGD005979 |
Argininosuccinic Aciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0392607 |
BXGD008057 |
Severe combined immunodeficiency due to adenosine deaminase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424304 |
BXGD008526 |
Inappropriate laughter |
|
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0425782 |
BXGD008551 |
Breast size |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0543888 |
BXGD009300 |
Epileptic encephalopathy |
Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0751837 |
BXGD010604 |
Gait Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0867389 |
BXGD011300 |
Chronic graft-versus-host disease |
Immune System Diseases |
| C1142533 |
BXGD011758 |
Smooth philtrum |
|
| C1269683 |
BXGD012001 |
Major Depressive Disorder |
Mental Disorders |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1445953 |
BXGD013080 |
Poor eye contact |
Mental Disorders |
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1837402 |
BXGD014228 |
Flat occiput |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1842981 |
BXGD014547 |
NEUROTICISM |
Behavior and Behavior Mechanisms |
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854838 |
BXGD015438 |
Progressive neurologic deterioration |
Mental Disorders |
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854919 |
BXGD015442 |
Severe psychomotor retardation |
|
| C1857949 |
BXGD015758 |
Prominent metopic ridge |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1970827 |
BXGD016845 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C2673700 |
BXGD017223 |
Brisk reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2677328 |
BXGD017371 |
Cerebral hypomyelination |
|
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4020908 |
BXGD020494 |
Hypointensity of cerebral white matter on MRI |
Pathological Conditions, Signs and Symptoms |
| C4021759 |
BXGD020762 |
Generalized myoclonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4025616 |
BXGD021697 |
CNS hypomyelination |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721811 |
BXGD023774 |
Adenylosuccinate lyase deficiency type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders |
| C4721812 |
BXGD023775 |
Adenylosuccinate lyase deficiency type 4 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders |
| C4721813 |
BXGD023776 |
Adenylosuccinate lyase deficiency type 3 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders |
| C4721814 |
BXGD023777 |
Adenylosuccinate lyase deficiency type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders |
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |