| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002962 |
BXGD000160 |
Angina Pectoris |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0003469 |
BXGD000195 |
Anxiety Disorders |
Mental Disorders |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0007222 |
BXGD000454 |
Cardiovascular Diseases |
Cardiovascular Diseases |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0007760 |
BXGD000476 |
Cerebellar Diseases |
Nervous System Diseases |
| C0007786 |
BXGD000486 |
Brain Ischemia |
Nervous System Diseases; Cardiovascular Diseases |
| C0007789 |
BXGD000488 |
Cerebral Palsy |
Nervous System Diseases |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010495 |
BXGD000674 |
Cutis Laxa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0010964 |
BXGD000692 |
Dandy-Walker Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011882 |
BXGD000761 |
Diabetic Neuropathies |
Nervous System Diseases; Endocrine System Diseases |
| C0011991 |
BXGD000766 |
Diarrhea |
Pathological Conditions, Signs and Symptoms |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014877 |
BXGD000967 |
Esotropia |
Eye Diseases; Nervous System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015695 |
BXGD001013 |
Fatty Liver |
Digestive System Diseases |
| C0015967 |
BXGD001030 |
Fever |
Pathological Conditions, Signs and Symptoms |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017612 |
BXGD001129 |
Glaucoma, Open-Angle |
Eye Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020305 |
BXGD001374 |
Hydrops Fetalis |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0020459 |
BXGD001394 |
Hyperinsulinism |
Nutritional and Metabolic Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0020796 |
BXGD001468 |
Profound Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0021655 |
BXGD001508 |
Insulin Resistance |
Nutritional and Metabolic Diseases |
| C0022680 |
BXGD001576 |
Polycystic Kidney Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023529 |
BXGD001682 |
Leukomalacia, Periventricular |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases |
| C0023787 |
BXGD001698 |
Lipodystrophy |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0024236 |
BXGD001752 |
Lymphedema |
Hemic and Lymphatic Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0025322 |
BXGD001863 |
Premature Menopause |
Female Urogenital Diseases and Pregnancy Complications |
| 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 |
| C0025363 |
BXGD001867 |
Mental Retardation, Psychosocial |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0025521 |
BXGD001876 |
Inborn Errors of Metabolism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0026850 |
BXGD001942 |
Muscular Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027612 |
BXGD002003 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027726 |
BXGD002030 |
Nephrotic Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0028968 |
BXGD002103 |
Olivopontocerebellar Atrophies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0031039 |
BXGD002274 |
Pericardial effusion |
Cardiovascular Diseases |
| C0031046 |
BXGD002275 |
Pericarditis |
Cardiovascular Diseases |
| C0031117 |
BXGD002285 |
Peripheral Neuropathy |
Nervous System Diseases |
| C0032227 |
BXGD002336 |
Pleural effusion disorder |
Respiratory Tract Diseases |
| C0032290 |
BXGD002345 |
Aspiration Pneumonia |
Infections; Respiratory Tract Diseases |
| C0033687 |
BXGD002415 |
Proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037284 |
BXGD002679 |
Skin lesion |
Skin and Connective Tissue Diseases |
| C0037769 |
BXGD002701 |
West Syndrome |
Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0038441 |
BXGD002756 |
Stress Disorders, Traumatic |
Mental Disorders |
| C0040034 |
BXGD002836 |
Thrombocytopenia |
Hemic and Lymphatic Diseases |
| C0042798 |
BXGD003003 |
Low Vision |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0085215 |
BXGD003141 |
Ovarian Failure, Premature |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0085612 |
BXGD003204 |
Ventricular arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149871 |
BXGD003375 |
Deep Vein Thrombosis |
Cardiovascular Diseases |
| C0151517 |
BXGD003431 |
Complete atrioventricular block |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0151526 |
BXGD003432 |
Premature Birth |
Female Urogenital Diseases and Pregnancy Complications |
| C0151603 |
BXGD003445 |
Anasarca |
Pathological Conditions, Signs and Symptoms |
| C0151699 |
BXGD003461 |
Intracranial Hemorrhage |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0151718 |
BXGD003464 |
Hypocholesterolemia |
Nutritional and Metabolic Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151872 |
BXGD003493 |
Prothrombin time increased |
Hemic and Lymphatic Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152025 |
BXGD003521 |
Polyneuropathy |
Nervous System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0155299 |
BXGD003783 |
Coloboma of optic disc |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0234366 |
BXGD004652 |
Ataxic |
|
| C0235031 |
BXGD004714 |
Neurologic Symptoms |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0235833 |
BXGD004775 |
Congenital diaphragmatic hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235986 |
BXGD004799 |
Growth hormone excess |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0239981 |
BXGD005011 |
Hypoalbuminemia |
Hemic and Lymphatic Diseases |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0240671 |
BXGD005048 |
Partial thromboplastin time increased (finding) |
|
| C0241355 |
BXGD005092 |
Small testicle |
|
| C0266368 |
BXGD005658 |
Congenital absence of ovary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0266781 |
BXGD005710 |
Abnormal amniotic fluid |
|
| C0268800 |
BXGD006041 |
Simple renal cyst |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0269269 |
BXGD006058 |
Inversion of nipple (disorder) |
Skin and Connective Tissue Diseases |
| C0271623 |
BXGD006222 |
Hypogonadotropic hypogonadism |
Endocrine System Diseases |
| C0272375 |
BXGD006359 |
Antithrombin III Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0282577 |
BXGD006816 |
Congenital Disorders of Glycosylation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0311276 |
BXGD006873 |
Severe malnutrition |
|
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0338484 |
BXGD007188 |
Familial Hemiplegic Migraine |
Nervous System Diseases |
| C0340279 |
BXGD007314 |
Ventricular hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0342844 |
BXGD007562 |
Disorder of glycoprotein metabolism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0345392 |
BXGD007732 |
Congenital kyphoscoliosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0349653 |
BXGD007946 |
Congenital disorder of glycosylation type 1A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0424230 |
BXGD008522 |
Motor retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426415 |
BXGD008560 |
Large nose |
|
| C0431447 |
BXGD008690 |
Synophrys |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0431718 |
BXGD008708 |
Multiple renal cysts |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0432355 |
BXGD008780 |
Hypoplasia of nipple |
|
| C0454595 |
BXGD008841 |
Motor speech disorder |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0455988 |
BXGD008860 |
Hydrops Fetalis, Non-Immune |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0559469 |
BXGD009470 |
Allergy to eggs |
Immune System Diseases |
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0586553 |
BXGD009609 |
Raised TSH level |
Endocrine System Diseases |
| C0595921 |
BXGD009626 |
Intraocular pressure disorder |
Eye Diseases |
| C0600033 |
BXGD009682 |
Acquired Kyphoscoliosis |
Musculoskeletal Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0836924 |
BXGD010864 |
Thrombocytosis |
Hemic and Lymphatic Diseases |
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0917816 |
BXGD011419 |
Mental deficiency |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0948896 |
BXGD011563 |
Primary hypogonadism |
Endocrine System Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1720983 |
BXGD013698 |
Channelopathies |
Pathological Conditions, Signs and Symptoms |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1832736 |
BXGD013874 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1832884 |
BXGD013880 |
Hemiplegic migraine, familial type 1 |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1836047 |
BXGD014074 |
Long face |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1837260 |
BXGD014214 |
Prominent forehead |
|
| C1837396 |
BXGD014226 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1837899 |
BXGD014285 |
Type I transferrin isoform profile |
|
| C1839603 |
BXGD014388 |
Proximal tubulopathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1844704 |
BXGD014665 |
Platyspondyly |
|
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1853377 |
BXGD015331 |
Enlarged cisterna magna |
|
| C1853743 |
BXGD015358 |
Muscular hypotonia of the trunk |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1854919 |
BXGD015442 |
Severe psychomotor retardation |
|
| C1856251 |
BXGD015588 |
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1857287 |
BXGD015692 |
Stroke-like episode |
Nervous System Diseases; Cardiovascular Diseases |
| C1858091 |
BXGD015771 |
Long fingers |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859341 |
BXGD015878 |
Olivopontocerebellar hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C1859347 |
BXGD015879 |
Abnormal subcutaneous fat tissue distribution |
|
| C1864903 |
BXGD016270 |
Hyperinsulinemic hypoglycemia |
Nutritional and Metabolic Diseases |
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1865145 |
BXGD016294 |
Congenital disorder of glycosylation type 1B |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C1956257 |
BXGD016623 |
Pulmonary Stenosis |
Cardiovascular Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1998028 |
BXGD016865 |
Photoreceptor degeneration |
Eye Diseases |
| C2315100 |
BXGD017021 |
Pediatric failure to thrive |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2677590 |
BXGD017380 |
Congenital Disorder Of Glycosylation, Type In |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C2711227 |
BXGD017478 |
Steatohepatitis |
Digestive System Diseases |
| C2749688 |
BXGD017633 |
Abnormal isoelectric focusing of serum transferrin |
|
| 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 |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3887499 |
BXGD019884 |
Renal cyst |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3888018 |
BXGD019942 |
Congenital Hyperinsulinism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases |
| C4021060 |
BXGD020537 |
Hyperplastic labia majora |
|
| C4021085 |
BXGD020544 |
Abnormality of brain morphology |
|
| C4022605 |
BXGD020934 |
Abnormal liver parenchyma morphology |
|
| C4022872 |
BXGD021023 |
Reduced thyroxin-binding globulin |
|
| C4023159 |
BXGD021128 |
Reduced factor IX activity |
|
| C4073079 |
BXGD022035 |
Photoreceptor layer loss on macular OCT |
|
| C4280709 |
BXGD022388 |
Impaired neutrophil chemotaxis |
|
| C4317093 |
BXGD022723 |
Reduced factor XI activity |
|
| C4317224 |
BXGD022736 |
Congenital disorder of glycosylation type 1q |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C4317295 |
BXGD022737 |
Congenital disorder of glycosylation type 1s |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C4531146 |
BXGD023194 |
Impaired antigen-specific response |
|
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551714 |
BXGD023398 |
Rod-Cone Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C4551715 |
BXGD023399 |
Pigmentary retinopathy |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |