| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0002448 |
BXGD000115 |
Ameloblastoma |
Neoplasms |
| C0003119 |
BXGD000177 |
Anophthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006287 |
BXGD000390 |
Bronchopulmonary Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007193 |
BXGD000451 |
Cardiomyopathy, Dilated |
Cardiovascular Diseases |
| C0007570 |
BXGD000467 |
Celiac Disease |
Digestive System Diseases; Nutritional and Metabolic Diseases |
| C0008312 |
BXGD000527 |
Primary biliary cirrhosis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0009324 |
BXGD000597 |
Ulcerative Colitis |
Digestive System Diseases |
| C0009375 |
BXGD000602 |
Colonic Neoplasms |
Digestive System Diseases; Neoplasms |
| C0009447 |
BXGD000613 |
Common Variable Immunodeficiency |
Immune System Diseases |
| C0010038 |
BXGD000643 |
Corneal Opacity |
Eye Diseases |
| C0010346 |
BXGD000664 |
Crohn Disease |
Digestive System Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010709 |
BXGD000689 |
Cyst |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0010964 |
BXGD000692 |
Dandy-Walker Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0011265 |
BXGD000708 |
Presenile dementia |
Nervous System Diseases; Mental Disorders |
| C0011633 |
BXGD000742 |
Dermatomyositis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013264 |
BXGD000808 |
Muscular Dystrophy, Duchenne |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0014547 |
BXGD000927 |
Epilepsies, Partial |
Nervous System Diseases |
| C0015393 |
BXGD000981 |
Eye Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0017654 |
BXGD001136 |
Glomerular Filtration Rate |
|
| C0018801 |
BXGD001226 |
Heart failure |
Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018834 |
BXGD001238 |
Heartburn |
Pathological Conditions, Signs and Symptoms |
| C0019104 |
BXGD001285 |
Hemorrhagic Fevers, Viral |
Infections |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020302 |
BXGD001373 |
Hydrophthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0021704 |
BXGD001510 |
Intelligence |
Behavior and Behavior Mechanisms |
| C0023092 |
BXGD001609 |
Lassa Fever |
Infections |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023520 |
BXGD001678 |
Leukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0023892 |
BXGD001715 |
Biliary cirrhosis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0023893 |
BXGD001716 |
Liver Cirrhosis, Experimental |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024198 |
BXGD001743 |
Lyme Disease |
Infections |
| C0024266 |
BXGD001754 |
Lymphocytic Choriomeningitis |
Infections; Nervous System Diseases |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| 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 |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026846 |
BXGD001939 |
Muscular Atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
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 |
| C0027121 |
BXGD001973 |
Myositis |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027746 |
BXGD002032 |
Nerve Degeneration |
Pathological Conditions, Signs and Symptoms |
| C0027868 |
BXGD002053 |
Neuromuscular Diseases |
Nervous System Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0030524 |
BXGD002236 |
Paratuberculosis |
Infections; Animal Diseases |
| C0030552 |
BXGD002238 |
Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0031117 |
BXGD002285 |
Peripheral Neuropathy |
Nervous System Diseases |
| C0032897 |
BXGD002378 |
Prader-Willi Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0033860 |
BXGD002438 |
Psoriasis |
Skin and Connective Tissue Diseases |
| C0035305 |
BXGD002529 |
Retinal Detachment |
Eye Diseases |
| C0035313 |
BXGD002532 |
Retinal Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0035412 |
BXGD002548 |
Rhabdomyosarcoma |
Neoplasms |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0038013 |
BXGD002725 |
Ankylosing spondylitis |
Musculoskeletal Diseases |
| C0085655 |
BXGD003226 |
Polymyositis |
Musculoskeletal Diseases; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0151888 |
BXGD003497 |
Hyporeflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0153349 |
BXGD003621 |
Malignant neoplasm of tongue |
Neoplasms; Stomatognathic Diseases |
| C0153690 |
BXGD003684 |
Secondary malignant neoplasm of bone |
Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0205671 |
BXGD004104 |
Infections, Arenavirus |
Infections |
| C0205682 |
BXGD004105 |
Waist-Hip Ratio |
|
| C0220611 |
BXGD004295 |
Childhood Rhabdomyosarcoma |
Neoplasms |
| C0221056 |
BXGD004383 |
Adult type dermatomyositis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0231686 |
BXGD004508 |
Gait, Unsteady |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0231712 |
BXGD004519 |
Waddling gait |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234146 |
BXGD004626 |
Absent reflex |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234182 |
BXGD004631 |
Gowers sign |
|
| C0234958 |
BXGD004702 |
Muscle degeneration |
Musculoskeletal Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0239067 |
BXGD004961 |
Difficulty walking up stairs |
Pathological Conditions, Signs and Symptoms |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240063 |
BXGD005015 |
Coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0241005 |
BXGD005072 |
Creatine phosphokinase serum increased |
|
| C0242339 |
BXGD005150 |
Dyslipidemias |
Nutritional and Metabolic Diseases |
| C0265221 |
BXGD005470 |
Walker-Warburg congenital muscular dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266449 |
BXGD005670 |
Congenital anomaly of brain |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases |
| C0266463 |
BXGD005675 |
Lissencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266464 |
BXGD005676 |
Polymicrogyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0266483 |
BXGD005680 |
Pachygyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266544 |
BXGD005691 |
Microcornea |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0266551 |
BXGD005693 |
Congenital coloboma of iris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0270685 |
BXGD006084 |
Cerebral calcification |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0279550 |
BXGD006635 |
Adult Rhabdomyosarcoma |
Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0282577 |
BXGD006816 |
Congenital Disorders of Glycosylation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0282687 |
BXGD006826 |
Hemorrhagic Fever, Ebola |
Infections |
| C0302142 |
BXGD006831 |
Deformity |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0332915 |
BXGD006912 |
Congenital failure of fusion |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0344482 |
BXGD007678 |
Hypoplasia of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349566 |
BXGD007928 |
Squamous cell carcinoma of tongue |
Neoplasms; Stomatognathic Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0410174 |
BXGD008410 |
Fukuyama Type Congenital Muscular Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0431371 |
BXGD008676 |
Absence of septum pellucidum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431376 |
BXGD008678 |
Cobblestone Lissencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431380 |
BXGD008680 |
Cortical Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0432103 |
BXGD008722 |
Submucous cleft of hard palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0457133 |
BXGD008884 |
Muscle eye brain disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0497327 |
BXGD009061 |
Dementia |
Nervous System Diseases; Mental Disorders |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0521158 |
BXGD009130 |
Recurrent tumor |
|
| C0524620 |
BXGD009236 |
Metabolic Syndrome X |
Nutritional and Metabolic Diseases |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0525045 |
BXGD009255 |
Mood Disorders |
Mental Disorders |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0546837 |
BXGD009343 |
Malignant neoplasm of esophagus |
Digestive System Diseases; Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0558353 |
BXGD009451 |
Tongue Carcinoma |
Neoplasms; Stomatognathic Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0686353 |
BXGD009833 |
Muscular Dystrophies, Limb-Girdle |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0699743 |
BXGD009862 |
Congenital muscular dystrophy (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0854723 |
BXGD011026 |
Retinal Dystrophies |
Eye Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0917713 |
BXGD011404 |
Becker Muscular Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0920350 |
BXGD011466 |
Autoimmune thyroiditis |
Immune System Diseases; Endocrine System Diseases |
| C0940937 |
BXGD011490 |
precancerous lesions |
|
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1184923 |
BXGD011800 |
Lumbar hyperlordosis |
Musculoskeletal Diseases |
| C1269683 |
BXGD012001 |
Major Depressive Disorder |
Mental Disorders |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1299493 |
BXGD012259 |
Developmental failure of fusion |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1314691 |
BXGD012388 |
Age at menarche |
Behavior and Behavior Mechanisms |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1397307 |
BXGD012996 |
Cardiac fibrosis |
|
| C1449563 |
BXGD013086 |
Cardiomyopathy, Familial Idiopathic |
Cardiovascular Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1739135 |
BXGD013733 |
Progression of prostate cancer |
|
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1834674 |
BXGD013987 |
BETHLEM MYOPATHY 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1836373 |
BXGD014110 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C1837249 |
BXGD014210 |
Malformations of Cortical Development, Group II |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1839666 |
BXGD014393 |
Calf muscle pseudohypertrophy |
|
| C1840379 |
BXGD014459 |
Cerebellar vermis hypoplasia |
|
| C1843057 |
BXGD014552 |
Calf muscle hypertrophy |
|
| C1846672 |
BXGD014834 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1847759 |
BXGD014886 |
MUSCULAR DYSTROPHY, CONGENITAL, 1C |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1847762 |
BXGD014887 |
Cerebellar cyst |
|
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1852502 |
BXGD015286 |
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT |
Musculoskeletal Diseases; Stomatognathic Diseases |
| C1853926 |
BXGD015365 |
NONAKA MYOPATHY |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1855285 |
BXGD015483 |
Protruding ear |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858127 |
BXGD015775 |
Limb-girdle muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1861922 |
BXGD016094 |
CAMPOMELIC DYSPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1879312 |
BXGD016571 |
Agyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2062441 |
BXGD016897 |
Influenza A |
|
| C2827469 |
BXGD017798 |
Coronary Microvascular Disease |
|
| C2931689 |
BXGD018049 |
Dystrophia myotonica 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C2931852 |
BXGD018079 |
Clear-cell metastatic renal cell carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2936331 |
BXGD018106 |
Sarcoglycanopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C2936406 |
BXGD018115 |
alpha-Dystroglycanopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C2937358 |
BXGD018159 |
Cerebral Hemorrhage |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C2985280 |
BXGD018223 |
Blood Protein Measurement |
|
| C3150797 |
BXGD018337 |
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 |
|
| C3151184 |
BXGD018402 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 |
|
| C3272841 |
BXGD018637 |
MUTYH-Associate Polyposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3495559 |
BXGD018994 |
Juvenile arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C3714731 |
BXGD019425 |
Early childhood caries |
Stomatognathic Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714948 |
BXGD019440 |
PACHYONYCHIA CONGENITA 3 |
|
| C4014795 |
BXGD020166 |
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 |
|
| C4015098 |
BXGD020184 |
Hypoglycosylation of alpha-dystroglycan |
|
| C4022646 |
BXGD020942 |
Reduced muscle fiber alpha dystroglycan |
|
| C4022916 |
BXGD021037 |
Abnormal aldolase level |
|
| C4024809 |
BXGD021425 |
Chorioretinal dysplasia |
|
| C4025773 |
BXGD021784 |
Aplasia/Hypoplasia involving the skeletal musculature |
|
| C4025790 |
BXGD021791 |
Specific learning disability |
|
| C4073168 |
BXGD022057 |
Abnormal lactate dehydrogenase activity |
|
| C4082144 |
BXGD022081 |
Metatarsal Valgus |
Musculoskeletal Diseases |
| C4225291 |
BXGD022210 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 |
|
| C4284790 |
BXGD022441 |
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases |
| C4310768 |
BXGD022658 |
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 |
|
| C4551488 |
BXGD023314 |
Bifid uvula |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |