| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000771 |
BXGD000008 |
Abnormalities, Drug-Induced |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0005940 |
BXGD000352 |
Bone Diseases |
Musculoskeletal Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0008489 |
BXGD000546 |
Chorea |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0009241 |
BXGD000595 |
Cognition Disorders |
Mental Disorders |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System 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 |
| C0020433 |
BXGD001379 |
Hyperbilirubinemia |
Pathological Conditions, Signs and Symptoms |
| C0021125 |
BXGD001483 |
Impulsive Behavior |
Behavior and Behavior Mechanisms |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System 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 |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| 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 |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0031117 |
BXGD002285 |
Peripheral Neuropathy |
Nervous System Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036690 |
BXGD002632 |
Septicemia |
Pathological Conditions, Signs and Symptoms; Infections |
| 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 |
| C0079744 |
BXGD003090 |
Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0152025 |
BXGD003521 |
Polyneuropathy |
Nervous System Diseases |
| C0200641 |
BXGD004044 |
Blood basophil count (lab test) |
|
| C0220810 |
BXGD004346 |
Congenital defects |
|
| C0234533 |
BXGD004687 |
Generalized seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0242647 |
BXGD005184 |
Mucosa-Associated Lymphoid Tissue Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0243026 |
BXGD005210 |
Sepsis |
Pathological Conditions, Signs and Symptoms; Infections |
| C0262630 |
BXGD005262 |
Reduced concentration span |
Behavior and Behavior Mechanisms |
| C0265541 |
BXGD005545 |
Cranioschisis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0334634 |
BXGD007144 |
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse |
Neoplasms; Immune System Diseases; Hemic and Lymphatic 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 |
| C0349532 |
BXGD007917 |
Gastric lymphoma |
Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| 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 |
| C0432365 |
BXGD008784 |
Thalidomide embryopathy syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0497552 |
BXGD009067 |
Congenital neurologic anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0684276 |
BXGD009793 |
Hypsarrhythmia |
Nervous System Diseases |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0700201 |
BXGD009880 |
Dyssomnias |
Nervous System Diseases; Mental Disorders |
| C0740404 |
BXGD009991 |
Limb defects |
|
| 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 |
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1292753 |
BXGD012226 |
Primary Effusion Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332201 |
BXGD012502 |
Adult Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1527366 |
BXGD013280 |
Salaam Seizures |
Nervous System Diseases |
| C1838023 |
BXGD014289 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1843942 |
BXGD014621 |
Mental Retardation, Autosomal Recessive 2 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1850900 |
BXGD015186 |
Familial primary gastric lymphoma |
Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1855304 |
BXGD015484 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1857276 |
BXGD015688 |
Trichohepatoenteric Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859470 |
BXGD015896 |
Large basal ganglia |
|
| C1955690 |
BXGD016605 |
Extranodal marginal zone B-cell lymphoma |
|
| C1970179 |
BXGD016812 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1970193 |
BXGD016814 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1970194 |
BXGD016815 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1970195 |
BXGD016816 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1970197 |
BXGD016817 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1970198 |
BXGD016818 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1970199 |
BXGD016819 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1970200 |
BXGD016820 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2347761 |
BXGD017049 |
Childhood Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C3151462 |
BXGD018431 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 |
|
| C3266262 |
BXGD018600 |
Multiple Chronic Conditions |
Pathological Conditions, Signs and Symptoms |
| C3280154 |
BXGD018809 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16 |
|
| C3280265 |
BXGD018815 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 |
|
| C3280523 |
BXGD018833 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31 |
|
| C3280525 |
BXGD018834 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 29 |
|
| C3280538 |
BXGD018836 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 |
|
| C3280539 |
BXGD018837 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 33 |
|
| C3280540 |
BXGD018838 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30 |
|
| C3280541 |
BXGD018839 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 19 |
|
| C3280542 |
BXGD018840 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23 |
|
| C3280543 |
BXGD018841 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24 |
|
| C3280544 |
BXGD018842 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 25 |
|
| C3280545 |
BXGD018843 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 28 |
|
| C3281044 |
BXGD018878 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3809672 |
BXGD019604 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 |
|
| C3809753 |
BXGD019609 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 |
|
| C3809853 |
BXGD019615 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 |
|
| C3810080 |
BXGD019636 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 |
|
| C3810225 |
BXGD019644 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 |
|
| C3810365 |
BXGD019652 |
Central visual impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3900098 |
BXGD020106 |
Adult Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C4014343 |
BXGD020141 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 |
|
| C4014386 |
BXGD020143 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 |
|
| C4014745 |
BXGD020165 |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 |
|
| C4015172 |
BXGD020190 |
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY |
|
| C4021219 |
BXGD020582 |
Multifocal epileptiform discharges |
|
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4310776 |
BXGD022660 |
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS |
|
| C4551538 |
BXGD023340 |
refractory multiple myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4706503 |
BXGD023697 |
Distal monosomy 3p syndrome |
|
| C4721414 |
BXGD023738 |
Mantle cell lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |