| C0003537 |
BXGD000208 |
Aphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013132 |
BXGD000799 |
Drooling |
Stomatognathic 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 |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0021125 |
BXGD001483 |
Impulsive Behavior |
Behavior and Behavior Mechanisms |
| C0025037 |
BXGD001822 |
Meckel Diverticulum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive 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 |
| 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 |
| 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 |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034194 |
BXGD002472 |
Pyloric Stenosis |
Digestive System Diseases |
| C0034935 |
BXGD002497 |
Babinski Reflex |
|
| C0035304 |
BXGD002528 |
Retinal Degeneration |
Eye 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 |
| C0038220 |
BXGD002740 |
Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0040822 |
BXGD002885 |
Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0042024 |
BXGD002949 |
Urinary Incontinence |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0231686 |
BXGD004508 |
Gait, Unsteady |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0234985 |
BXGD004708 |
Mental deterioration |
Mental Disorders |
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0239174 |
BXGD004969 |
Late tooth eruption |
|
| C0239676 |
BXGD004989 |
High forehead |
|
| C0302511 |
BXGD006849 |
Small for gestational age fetus |
Pathological Conditions, Signs and Symptoms |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0426429 |
BXGD008564 |
Broad nasal tip |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0684276 |
BXGD009793 |
Hypsarrhythmia |
Nervous System Diseases |
| C0856975 |
BXGD011127 |
Autistic behavior |
Behavior and Behavior Mechanisms |
| C1134719 |
BXGD011688 |
Invasive Ductal Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1838391 |
BXGD014313 |
Limb hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1842581 |
BXGD014525 |
Abnormal corpus callosum morphology |
Pathological Conditions, Signs and Symptoms |
| C1846151 |
BXGD014787 |
Widened subarachnoid space |
|
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1849340 |
BXGD015039 |
Long palpebral fissure |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1857704 |
BXGD015741 |
Abnormal myelination |
|
| C1858036 |
BXGD015763 |
Periorbital fullness |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2678194 |
BXGD017400 |
Mental Retardation, X-Linked, Syndromic, Christianson Type |
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 |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931498 |
BXGD018030 |
Mental Retardation, X-Linked 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C3161330 |
BXGD018511 |
Profound intellectual disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021538 |
BXGD020660 |
Mild neurosensory hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C4021608 |
BXGD020695 |
Shortening of all distal phalanges of the fingers |
|
| C4021620 |
BXGD020699 |
Clinodactyly of the 2nd toe |
|
| C4023687 |
BXGD021243 |
EEG with multifocal slow activity |
|
| C4024664 |
BXGD021362 |
Moderate sensorineural hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C4025846 |
BXGD021826 |
Abnormality of vision |
|
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4538788 |
BXGD023224 |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE |
|
| C4551570 |
BXGD023357 |
2-3 toe syndactyly |
|
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|