| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004775 |
BXGD000290 |
Bartter Disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0007787 |
BXGD000487 |
Transient Ischemic Attack |
Nervous System Diseases; Cardiovascular Diseases |
| C0011175 |
BXGD000701 |
Dehydration |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011884 |
BXGD000762 |
Diabetic Retinopathy |
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases |
| C0014394 |
BXGD000914 |
Enuresis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014548 |
BXGD000928 |
Epilepsy, Generalized |
Nervous System Diseases |
| C0014549 |
BXGD000929 |
Tonic-Clonic Epilepsy |
Nervous System Diseases |
| C0014553 |
BXGD000931 |
Absence Epilepsy |
Nervous System Diseases |
| C0014556 |
BXGD000932 |
Epilepsy, Temporal Lobe |
Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0018021 |
BXGD001162 |
Goiter |
Endocrine System Diseases |
| C0018776 |
BXGD001216 |
Hearing Loss, Central |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018780 |
BXGD001218 |
Hearing Loss, High-Frequency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020428 |
BXGD001377 |
Hyperaldosteronism |
Endocrine System Diseases |
| C0020502 |
BXGD001410 |
Hyperparathyroidism |
Endocrine System Diseases |
| C0020599 |
BXGD001441 |
Hypocalciuria |
Nutritional and Metabolic Diseases |
| C0020621 |
BXGD001449 |
Hypokalemia |
Nutritional and Metabolic Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022658 |
BXGD001570 |
Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023508 |
BXGD001675 |
White Blood Cell Count procedure |
|
| C0023882 |
BXGD001710 |
Little's Disease |
Nervous System Diseases |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0032617 |
BXGD002367 |
Polyuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035304 |
BXGD002528 |
Retinal Degeneration |
Eye Diseases |
| C0035328 |
BXGD002537 |
Retinal Vein Occlusion |
Eye Diseases; Cardiovascular Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037822 |
BXGD002706 |
Speech Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038220 |
BXGD002740 |
Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038525 |
BXGD002768 |
Subarachnoid Hemorrhage |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0038644 |
BXGD002776 |
Sudden infant death syndrome |
Pathological Conditions, Signs and Symptoms |
| C0040583 |
BXGD002878 |
Tracheal Stenosis |
Respiratory Tract Diseases |
| C0042164 |
BXGD002965 |
Uveitis |
Eye Diseases |
| C0042571 |
BXGD002991 |
Vertigo |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0085570 |
BXGD003186 |
Hypokalemic alkalosis |
Nutritional and Metabolic Diseases |
| C0085602 |
BXGD003199 |
Polydipsia |
Pathological Conditions, Signs and Symptoms |
| C0151723 |
BXGD003466 |
Hypomagnesemia |
Nutritional and Metabolic Diseases |
| C0151747 |
BXGD003471 |
Renal tubular disorder |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0152459 |
BXGD003600 |
Linear atrophy |
Pathological Conditions, Signs and Symptoms |
| C0162557 |
BXGD003956 |
Liver Failure, Acute |
Digestive System Diseases |
| C0220983 |
BXGD004350 |
Metabolic alkalosis |
Nutritional and Metabolic Diseases |
| C0234376 |
BXGD004659 |
Action Tremor |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234979 |
BXGD004707 |
Dysdiadochokinesis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0240783 |
BXGD005054 |
Increased circulating renin level |
|
| C0240928 |
BXGD005064 |
Salt craving |
Mental Disorders |
| C0266589 |
BXGD005698 |
Congenital ear anomaly NOS (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases |
| C0270850 |
BXGD006117 |
Idiopathic generalized epilepsy |
Nervous System Diseases |
| C0270857 |
BXGD006122 |
Epilepsy, Reflex |
Nervous System Diseases |
| C0271829 |
BXGD006267 |
Pendred's syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases |
| C0302142 |
BXGD006831 |
Deformity |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0342162 |
BXGD007438 |
Compensated hypothyroidism |
Endocrine System Diseases |
| C0393519 |
BXGD008078 |
Cerebellar Ataxia, Early Onset |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0452138 |
BXGD008831 |
Sensorineural hearing loss, bilateral |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0740898 |
BXGD010014 |
Hypokalemic metabolic alkalosis |
|
| C0751324 |
BXGD010388 |
Multiple Sclerosis, Acute Fulminating |
Immune System Diseases; Nervous System Diseases |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1720983 |
BXGD013698 |
Channelopathies |
Pathological Conditions, Signs and Symptoms |
| C1843865 |
BXGD014615 |
Vestibular dysfunction |
|
| C1846347 |
BXGD014802 |
Renal salt wasting |
|
| C1846348 |
BXGD014803 |
Renal potassium wasting |
|
| C1853205 |
BXGD015316 |
Glycosylphosphatidylinositol deficiency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1853666 |
BXGD015350 |
Anemia, Diamond-Blackfan, 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1862050 |
BXGD016098 |
Cochlear malformation |
|
| C1863752 |
BXGD016196 |
Enlarged Vestibular Aqueduct |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1865866 |
BXGD016345 |
Congenital sensorineural hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C2607947 |
BXGD017150 |
Unilateral deafness |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C2676974 |
BXGD017351 |
Hypoplasia of the cochlea |
|
| C2748572 |
BXGD017600 |
SeSAME syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms |
| C2748576 |
BXGD017601 |
Renal sodium wasting |
|
| C3538946 |
BXGD019082 |
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C3711374 |
BXGD019382 |
Nonsyndromic Deafness |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4023042 |
BXGD021081 |
Abnormality of the mitochondrion |
|
| C4317109 |
BXGD022725 |
Epileptic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4552839 |
BXGD023527 |
Hypomagnesemia, CTCAE |
|