| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007112 |
BXGD000429 |
Adenocarcinoma of prostate |
Neoplasms; Male Urogenital Diseases |
| C0013384 |
BXGD000826 |
Dyskinetic syndrome |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0019553 |
BXGD001333 |
Hip Contracture |
Musculoskeletal Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0023264 |
BXGD001625 |
Leigh Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0085583 |
BXGD003194 |
Choreoathetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151313 |
BXGD003413 |
Sensory neuropathy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152115 |
BXGD003544 |
Lingual-Facial-Buccal Dyskinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0338106 |
BXGD007167 |
Adenocarcinoma of colon |
Digestive System Diseases; Neoplasms |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0751093 |
BXGD010317 |
Dystonia, Limb |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0949856 |
BXGD011588 |
Oxidative Phosphorylation Deficiencies |
Nutritional and Metabolic Diseases |
| C0949857 |
BXGD011589 |
Mitochondrial Respiratory Chain Deficiencies |
Nutritional and Metabolic Diseases |
| C1167918 |
BXGD011779 |
Increased CSF lactate |
|
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1824925 |
BXGD013765 |
DEAFNESS, AUTOSOMAL RECESSIVE 70 |
|
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836440 |
BXGD014115 |
Increased serum lactate |
Nutritional and Metabolic Diseases |
| C1839630 |
BXGD014391 |
Severe muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1842581 |
BXGD014525 |
Abnormal corpus callosum morphology |
Pathological Conditions, Signs and Symptoms |
| C1845245 |
BXGD014730 |
Lower limb hypertonia |
|
| C1846647 |
BXGD014833 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854387 |
BXGD015396 |
Type 1 muscle fiber predominance |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1857640 |
BXGD015726 |
Decreased nerve conduction velocity |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1864580 |
BXGD016235 |
Type 2 muscle fiber atrophy |
|
| C1865866 |
BXGD016345 |
Congenital sensorineural hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2751582 |
BXGD017726 |
Mitochondrial respiratory chain defects |
|
| C3554129 |
BXGD019201 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 |
|
| 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 |
| C4023342 |
BXGD021158 |
Gastrostomy tube feeding in infancy |
|
| C4023607 |
BXGD021226 |
Abnormal corpus striatum morphology |
|
| C4024944 |
BXGD021491 |
Profound static encephalopathy |
|
| C4025597 |
BXGD021685 |
Subsarcolemmal accumulations of abnormally shaped mitochondria |
|
| C4073152 |
BXGD022050 |
Elevated CSF neopterin level |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|