| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0002418 |
BXGD000112 |
Amblyopia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0002896 |
BXGD000153 |
Sideroblastic anemia |
Hemic and Lymphatic Diseases |
| C0003119 |
BXGD000177 |
Anophthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0003466 |
BXGD000193 |
Anus, Imperforate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0003537 |
BXGD000208 |
Aphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0007193 |
BXGD000451 |
Cardiomyopathy, Dilated |
Cardiovascular Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013528 |
BXGD000851 |
Echolalia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014588 |
BXGD000937 |
Epispadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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 |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018790 |
BXGD001221 |
Cardiac Arrest |
Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018816 |
BXGD001234 |
Heart Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic 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 |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026266 |
BXGD001895 |
Mitral Valve Insufficiency |
Cardiovascular Diseases |
| C0026267 |
BXGD001896 |
Mitral Valve Prolapse Syndrome |
Cardiovascular Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026884 |
BXGD001945 |
Mutism |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
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 |
| C0035313 |
BXGD002532 |
Retinal Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038220 |
BXGD002740 |
Status Epilepticus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040961 |
BXGD002891 |
Tricuspid Valve Insufficiency |
Cardiovascular Diseases |
| C0040962 |
BXGD002892 |
Tricuspid Valve Prolapse |
Cardiovascular Diseases |
| C0041834 |
BXGD002935 |
Erythema |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0042510 |
BXGD002987 |
Ventricular Fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0042514 |
BXGD002989 |
Tachycardia, Ventricular |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151514 |
BXGD003429 |
Atrophic condition of skin |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0156394 |
BXGD003856 |
Hypertrophy of clitoris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| 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 |
| C0162834 |
BXGD003988 |
Hyperpigmentation |
Skin and Connective Tissue Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0220981 |
BXGD004348 |
Metabolic acidosis |
Nutritional and Metabolic Diseases |
| C0221182 |
BXGD004401 |
Chordee |
Male Urogenital Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0235812 |
BXGD004770 |
Vitritis |
Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases; Nervous System Diseases |
| C0235833 |
BXGD004775 |
Congenital diaphragmatic hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0238395 |
BXGD004922 |
Male Pseudohermaphroditism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0240063 |
BXGD005015 |
Coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0265886 |
BXGD005585 |
Overriding aorta |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C0266210 |
BXGD005631 |
Congenital anomaly of rectum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0266361 |
BXGD005656 |
True Hermaphroditism (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0266399 |
BXGD005663 |
Infantile uterus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0266551 |
BXGD005693 |
Congenital coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0270612 |
BXGD006081 |
Leukoencephalopathy |
Nervous System Diseases |
| C0281842 |
BXGD006787 |
Abnormality of the fallopian tube |
|
| C0342776 |
BXGD007546 |
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency |
|
| C0344511 |
BXGD007682 |
Atresia of nasolacrimal duct |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0410916 |
BXGD008452 |
Neonatal Death |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0426421 |
BXGD008561 |
Wide nose |
|
| C0426848 |
BXGD008590 |
Sacral dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0431371 |
BXGD008676 |
Absence of septum pellucidum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431384 |
BXGD008681 |
Colpocephaly |
Nervous System Diseases |
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0546967 |
BXGD009349 |
Posterior embryotoxon |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0554970 |
BXGD009428 |
Pallor of optic disc |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0581342 |
BXGD009560 |
Redundant skin |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0685776 |
BXGD009816 |
Congenital absence of mandible |
|
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0796070 |
BXGD010792 |
MICROPHTHALMIA, SYNDROMIC 7 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0853087 |
BXGD010964 |
Nail abnormality |
Pathological Conditions, Signs and Symptoms |
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C0917796 |
BXGD011408 |
Optic Atrophy, Hereditary, Leber |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C0973461 |
BXGD011595 |
Dysphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1167918 |
BXGD011779 |
Increased CSF lactate |
|
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1445953 |
BXGD013080 |
Poor eye contact |
Mental Disorders |
| C1708371 |
BXGD013600 |
Histiocytoid Cardiomyopathy |
Cardiovascular Diseases |
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836735 |
BXGD014155 |
hypopigmented skin patch |
Skin and Connective Tissue Diseases |
| C1838705 |
BXGD014341 |
Anteriorly placed anus |
|
| 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 |
|
| C1847879 |
BXGD014895 |
X-linked dominant inheritance |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1849488 |
BXGD015058 |
Increased serum pyruvate |
|
| C1853235 |
BXGD015318 |
Sclerocornea |
Eye Diseases |
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1856409 |
BXGD015604 |
Dilation of lateral ventricles |
|
| C1862475 |
BXGD016132 |
Abnormality of retinal pigmentation |
|
| C1866245 |
BXGD016390 |
Hyperpigmented streaks |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2675111 |
BXGD017272 |
Abnormal eyelash morphology |
|
| C2677650 |
BXGD017382 |
Decreased activity of mitochondrial complex I |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3665346 |
BXGD019278 |
Unspecified visual loss |
Pathological Conditions, Signs and Symptoms; Eye Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3665386 |
BXGD019284 |
Abnormal vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021546 |
BXGD020663 |
Abnormal mitochondria in muscle tissue |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4021800 |
BXGD020790 |
Abnormality of dental enamel |
|
| C4022748 |
BXGD020979 |
Focal T2 hyperintense brainstem lesion |
|
| C4023440 |
BXGD021187 |
Cleft earlobe |
|
| C4024809 |
BXGD021425 |
Chorioretinal dysplasia |
|
| C4024888 |
BXGD021457 |
Asymmetric, linear skin defects |
|
| C4025329 |
BXGD021647 |
Abnormality of the anus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C4025360 |
BXGD021652 |
Functional motor deficit |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4025835 |
BXGD021819 |
Abnormal nasolacrimal system morphology |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4225421 |
BXGD022274 |
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 |
|
| C4551490 |
BXGD023316 |
Ovotestis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C4551511 |
BXGD023330 |
X-linked sideroblastic anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4746985 |
BXGD023966 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 |
|