| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0004509 |
BXGD000275 |
Azoospermia |
Male Urogenital Diseases |
| C0004779 |
BXGD000291 |
Basal Cell Nevus Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0007959 |
BXGD000507 |
Charcot-Marie-Tooth Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0008350 |
BXGD000531 |
Cholelithiasis |
Digestive System Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013720 |
BXGD000861 |
Ehlers-Danlos Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0016781 |
BXGD001079 |
Fuchs Endothelial Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0017668 |
BXGD001143 |
Focal glomerulosclerosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0018801 |
BXGD001226 |
Heart failure |
Cardiovascular Diseases |
| C0018802 |
BXGD001227 |
Congestive heart failure |
Cardiovascular Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020503 |
BXGD001411 |
Hyperparathyroidism, Secondary |
Endocrine System Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0024408 |
BXGD001768 |
Machado-Joseph Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
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 |
| C0027125 |
BXGD001975 |
Myotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027126 |
BXGD001976 |
Myotonic Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0027127 |
BXGD001977 |
Myotonia Congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027868 |
BXGD002053 |
Neuromuscular Diseases |
Nervous System Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0030552 |
BXGD002238 |
Paresis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0035412 |
BXGD002548 |
Rhabdomyosarcoma |
Neoplasms |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0085614 |
BXGD003205 |
First degree atrioventricular block |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0149925 |
BXGD003387 |
Small cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0154971 |
BXGD003761 |
Presenile cataract |
Eye Diseases |
| C0156312 |
BXGD003849 |
Atrophy of testis |
Male Urogenital Diseases; Endocrine System Diseases |
| C0162309 |
BXGD003934 |
Adrenoleukodystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0175709 |
BXGD004013 |
Centronuclear myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0220611 |
BXGD004295 |
Childhood Rhabdomyosarcoma |
Neoplasms |
| C0231528 |
BXGD004496 |
Myalgia |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0264886 |
BXGD005432 |
Conduction disorder of the heart |
Cardiovascular Diseases |
| C0279550 |
BXGD006635 |
Adult Rhabdomyosarcoma |
Neoplasms |
| C0393808 |
BXGD008148 |
Charcot-Marie-Tooth disease, X-linked, 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0410226 |
BXGD008421 |
Congenital Myotonic Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0424448 |
BXGD008529 |
Mask-like facies |
Nervous System Diseases |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0476403 |
BXGD008992 |
Electromyogram abnormal |
|
| C0521707 |
BXGD009166 |
Bilateral cataracts (disorder) |
Eye Diseases |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0546264 |
BXGD009330 |
Congenital Fiber Type Disproportion |
Musculoskeletal Diseases; Nervous System Diseases |
| C0553604 |
BXGD009402 |
Myotonic Disorders |
Musculoskeletal Diseases; Nervous System Diseases |
| C0574084 |
BXGD009502 |
3-Methylglutaconic aciduria type 3 |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases |
| C0741916 |
BXGD010044 |
Cardiac defects |
|
| C0751358 |
BXGD010408 |
Myotonic Phenomenon |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751359 |
BXGD010409 |
Percussion Myotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751535 |
BXGD010495 |
Syncope, Cardiogenic |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751651 |
BXGD010539 |
Mitochondrial Diseases |
Nutritional and Metabolic Diseases |
| C0848676 |
BXGD010883 |
Subfertility, Male |
Male Urogenital Diseases |
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1442978 |
BXGD013065 |
Hernia of abdominal wall |
Pathological Conditions, Signs and Symptoms |
| C1519670 |
BXGD013241 |
Tumor Angiogenesis |
Pathological Conditions, Signs and Symptoms |
| C1527231 |
BXGD013261 |
Adrenomyeloneuropathy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases |
| C1533847 |
BXGD013318 |
Disorder of skeletal muscle |
Musculoskeletal Diseases; Nervous System Diseases |
| C1834433 |
BXGD013973 |
Obsessive-compulsive trait |
Behavior and Behavior Mechanisms |
| C1836003 |
BXGD014069 |
Facial diplegia |
Infections; Nervous System Diseases; Stomatognathic Diseases |
| C1839259 |
BXGD014363 |
Bulbo-Spinal Atrophy, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1846149 |
BXGD014786 |
Intellectual disability, progressive |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1852197 |
BXGD015264 |
MAJOR AFFECTIVE DISORDER 1 |
Mental Disorders |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1864584 |
BXGD016236 |
Frontal balding |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1956346 |
BXGD016627 |
Coronary Artery Disease |
Cardiovascular Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2751898 |
BXGD017749 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C2931689 |
BXGD018049 |
Dystrophia myotonica 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C2936781 |
BXGD018135 |
Generalized Myotonia of Thomsen |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C3250443 |
BXGD018584 |
MYOTONIC DYSTROPHY 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3715208 |
BXGD019451 |
AV Block First Degree by ECG Finding |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C4021020 |
BXGD020521 |
Non-midline cleft lip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C4023397 |
BXGD021175 |
Abnormal hair quantity |
|
| C4023641 |
BXGD021235 |
Abnormality of the upper urinary tract |
|
| C4025823 |
BXGD021811 |
Abnormality of the endocrine system |
|
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4551472 |
BXGD023303 |
Hypertrophic obstructive cardiomyopathy |
Cardiovascular Diseases |
| C4551761 |
BXGD023405 |
Excessive daytime sleepiness |
|