| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| 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 |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0012569 |
BXGD000777 |
Diplopia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014548 |
BXGD000928 |
Epilepsy, Generalized |
Nervous System Diseases |
| C0014553 |
BXGD000931 |
Absence Epilepsy |
Nervous System Diseases |
| C0017178 |
BXGD001102 |
Gastrointestinal Diseases |
Digestive System Diseases |
| C0018790 |
BXGD001221 |
Cardiac Arrest |
Cardiovascular Diseases |
| C0019572 |
BXGD001338 |
Hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0020490 |
BXGD001403 |
Hyperopia |
Eye Diseases |
| 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 |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0025363 |
BXGD001867 |
Mental Retardation, Psychosocial |
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 |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0036220 |
BXGD002587 |
Kaposi Sarcoma |
Neoplasms; Infections |
| 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 |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039075 |
BXGD002788 |
Syndactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0042024 |
BXGD002949 |
Urinary Incontinence |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042571 |
BXGD002991 |
Vertigo |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0085606 |
BXGD003201 |
Urgency of micturition |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0087012 |
BXGD003318 |
Ataxia, Spinocerebellar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System 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 |
| C0234162 |
BXGD004627 |
Cerebellar Dysmetria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234379 |
BXGD004662 |
Resting Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0239882 |
BXGD005004 |
Head tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0242350 |
BXGD005154 |
Erectile dysfunction |
Male Urogenital Diseases; Mental Disorders |
| C0262985 |
BXGD005277 |
Psoriasiform eczema |
Skin and Connective Tissue Diseases |
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0270736 |
BXGD006096 |
Essential Tremor |
Nervous System Diseases |
| C0270850 |
BXGD006117 |
Idiopathic generalized epilepsy |
Nervous System Diseases |
| C0271270 |
BXGD006178 |
Oculovestibuloauditory syndrome |
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0271385 |
BXGD006193 |
Horizontal Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0333983 |
BXGD006975 |
Hyperplastic Polyp |
Pathological Conditions, Signs and Symptoms |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0423082 |
BXGD008468 |
Hypometric saccades |
|
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0524528 |
BXGD009229 |
Pervasive Development Disorder |
Mental Disorders |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0683322 |
BXGD009782 |
Mental impairment |
|
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0742028 |
BXGD010051 |
Cerebellar vermis atrophy |
|
| C0751122 |
BXGD010325 |
Infantile Severe Myoclonic Epilepsy |
Nervous System Diseases |
| C0751265 |
BXGD010370 |
Learning Disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0751837 |
BXGD010604 |
Gait Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0752120 |
BXGD010668 |
Spinocerebellar Ataxia Type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0752121 |
BXGD010669 |
Spinocerebellar Ataxia Type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0752122 |
BXGD010670 |
Spinocerebellar Ataxia Type 4 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0752123 |
BXGD010671 |
Spinocerebellar Ataxia Type 5 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0752124 |
BXGD010672 |
Spinocerebellar Ataxia Type 6 (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0752125 |
BXGD010673 |
Spinocerebellar Ataxia Type 7 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0917816 |
BXGD011419 |
Mental deficiency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0936223 |
BXGD011477 |
Metastatic Prostate Carcinoma |
Neoplasms; Male Urogenital Diseases |
| C1282496 |
BXGD012147 |
Metastasis from malignant tumor of prostate |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836479 |
BXGD014121 |
Saccadic smooth pursuit |
|
| C1837770 |
BXGD014270 |
Sparse hair |
|
| C1839333 |
BXGD014369 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 |
Nervous System Diseases |
| C1849146 |
BXGD015013 |
Loss of Purkinje cells in the cerebellar vermis |
|
| C1849156 |
BXGD015017 |
Spastic Ataxia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1853394 |
BXGD015333 |
Gaze-evoked horizontal nystagmus |
Eye Diseases; Nervous System Diseases |
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854372 |
BXGD015395 |
Impaired vibration sensation at ankles |
|
| C1854494 |
BXGD015409 |
Slow progression |
|
| C1857055 |
BXGD015672 |
Anteverted ears |
|
| C1867138 |
BXGD016442 |
Upper limb postural tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2675021 |
BXGD017264 |
Narrow palpebral fissure |
|
| C2938912 |
BXGD018165 |
Hyperintensity of cerebral white matter on MRI |
Pathological Conditions, Signs and Symptoms |
| C3489733 |
BXGD018945 |
Oculomotor apraxia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021790 |
BXGD020782 |
Abnormality of the skeletal system |
|
| C4022737 |
BXGD020973 |
Neurodevelopmental abnormality |
|
| C4022761 |
BXGD020988 |
Reduced brain N-acetyl aspartate level by MRS |
|
| C4024900 |
BXGD021463 |
Atrophy/Degeneration affecting the brainstem |
|
| C4087347 |
BXGD022144 |
Autosomal dominant cerebellar ataxia |
|
| C4225205 |
BXGD022175 |
SPINOCEREBELLAR ATAXIA 42 |
|
| C4281785 |
BXGD022415 |
Childhood Absence Epilepsy |
Nervous System Diseases |
| C4324277 |
BXGD022754 |
Myokymia of eyelid |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4553976 |
BXGD023554 |
Urinary Urgency, CTCAE 5 |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4748120 |
BXGD023984 |
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS |
|