| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015930 |
BXGD001025 |
Fetal Distress |
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 |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0022107 |
BXGD001530 |
Irritable Mood |
Behavior and Behavior Mechanisms |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023264 |
BXGD001625 |
Leigh Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023380 |
BXGD001640 |
Lethargy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029132 |
BXGD002117 |
Disorder of the optic nerve |
Eye Diseases; Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0162666 |
BXGD003967 |
Mitochondrial Encephalomyopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0162670 |
BXGD003970 |
Mitochondrial Myopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0220981 |
BXGD004348 |
Metabolic acidosis |
Nutritional and Metabolic Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0342776 |
BXGD007546 |
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency |
|
| C0426970 |
BXGD008598 |
Spastic Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0554970 |
BXGD009428 |
Pallor of optic disc |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0878575 |
BXGD011372 |
Peripheral demyelination |
Nervous System Diseases |
| C1167918 |
BXGD011779 |
Increased CSF lactate |
|
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1445953 |
BXGD013080 |
Poor eye contact |
Mental Disorders |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1838979 |
BXGD014349 |
MITOCHONDRIAL COMPLEX I DEFICIENCY |
Nutritional and Metabolic Diseases |
| C1839603 |
BXGD014388 |
Proximal tubulopathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1847515 |
BXGD014869 |
Paroxysmal involuntary eye movements |
|
| C1849488 |
BXGD015058 |
Increased serum pyruvate |
|
| C1855106 |
BXGD015459 |
Neonatal onset |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2677650 |
BXGD017382 |
Decreased activity of mitochondrial complex I |
|
| C2700617 |
BXGD017474 |
Irritation - emotion |
Behavior and Behavior Mechanisms |
| C4021546 |
BXGD020663 |
Abnormal mitochondria in muscle tissue |
|
| C4022748 |
BXGD020979 |
Focal T2 hyperintense brainstem lesion |
|
| C4552810 |
BXGD023525 |
Irritability, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4748778 |
BXGD024025 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 |
|