| C0001883 |
BXGD000086 |
Airway Obstruction |
Respiratory Tract Diseases |
| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0010520 |
BXGD000675 |
Cyanosis |
Pathological Conditions, Signs and Symptoms |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0012569 |
BXGD000777 |
Diplopia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0013144 |
BXGD000800 |
Drowsiness |
Mental Disorders |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0013604 |
BXGD000859 |
Edema |
Pathological Conditions, Signs and Symptoms |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016059 |
BXGD001043 |
Fibrosis |
Pathological Conditions, Signs and Symptoms |
| C0016529 |
BXGD001068 |
Forced expiratory volume function |
|
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0024591 |
BXGD001789 |
Malignant hyperpyrexia due to anesthesia |
Pathological Conditions, Signs and Symptoms |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026896 |
BXGD001946 |
Myasthenia Gravis |
Neoplasms; Immune System Diseases; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028043 |
BXGD002066 |
Nicotine Dependence |
Chemically-Induced Disorders; Mental Disorders |
| C0029089 |
BXGD002107 |
Ophthalmoplegia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0040100 |
BXGD002840 |
Thymoma |
Neoplasms; Hemic and Lymphatic Diseases |
| C0040332 |
BXGD002858 |
Tobacco Dependence |
Chemically-Induced Disorders; Mental Disorders |
| C0085619 |
BXGD003207 |
Orthopnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0085623 |
BXGD003210 |
Akinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0206620 |
BXGD004187 |
Lymphangioma, Cystic |
Neoplasms |
| C0231807 |
BXGD004524 |
Dyspnea on exertion |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0234182 |
BXGD004631 |
Gowers sign |
|
| C0234860 |
BXGD004698 |
Weak cry |
|
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239594 |
BXGD004987 |
Short finger |
|
| C0240479 |
BXGD005039 |
Neck muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0265783 |
BXGD005575 |
Congenital hypoplasia of lung |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0426818 |
BXGD008586 |
Thin rib |
|
| C0427063 |
BXGD008602 |
Shoulder girdle weakness |
|
| C0432185 |
BXGD008730 |
Aplasia of muscle |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| 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 |
| C0476408 |
BXGD008994 |
Reduced vital capacity |
|
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0746674 |
BXGD010147 |
Generalized muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0751401 |
BXGD010427 |
Ophthalmoparesis |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0751882 |
BXGD010626 |
Myasthenic Syndromes, Congenital |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0947912 |
BXGD011497 |
Myasthenias |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1276035 |
BXGD012100 |
Pena-Shokeir syndrome type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1390474 |
BXGD012969 |
Increased susceptibility to fractures |
|
| C1623038 |
BXGD013475 |
Cirrhosis |
Pathological Conditions, Signs and Symptoms |
| C1834536 |
BXGD013977 |
Weakness of the intrinsic hand muscles |
|
| C1837098 |
BXGD014198 |
Easy fatigability |
|
| C1837122 |
BXGD014200 |
Myasthenic Syndrome, Congenital, Fast-Channel |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1837142 |
BXGD014201 |
Poor suck |
|
| C1837658 |
BXGD014257 |
Gross motor development delay |
Mental Disorders |
| C1842876 |
BXGD014542 |
Depressed nasal ridge |
|
| C1843637 |
BXGD014597 |
Neck flexor weakness |
|
| C1844548 |
BXGD014642 |
Hypoplastic finger |
|
| C1853952 |
BXGD015371 |
Decreased miniature endplate potentials |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1854387 |
BXGD015396 |
Type 1 muscle fiber predominance |
|
| C1854678 |
BXGD015420 |
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1864238 |
BXGD016220 |
Prolonged miniature endplate currents |
|
| C1864580 |
BXGD016235 |
Type 2 muscle fiber atrophy |
|
| C1866934 |
BXGD016427 |
Reduced tendon reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1867448 |
BXGD016456 |
Multiple pterygia |
Eye Diseases |
| C2228039 |
BXGD016957 |
Ankle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C2230441 |
BXGD016958 |
Triceps weakness |
|
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2830004 |
BXGD017804 |
Somnolence |
Pathological Conditions, Signs and Symptoms |
| C2931107 |
BXGD017958 |
Myasthenic syndrome, congenital, postsynaptic slow-channel |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C2936719 |
BXGD018130 |
Mechanical Allodynia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3151523 |
BXGD018440 |
Abnormal cervical curvature |
|
| C3151525 |
BXGD018441 |
Hypoplastic heart |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C3277226 |
BXGD018711 |
Restrictive ventilatory defect |
|
| C3278509 |
BXGD018742 |
Spinal fusion |
|
| C3279725 |
BXGD018774 |
Hip flexor weakness |
|
| C3806467 |
BXGD019513 |
Respiratory insufficiency due to muscle weakness |
Respiratory Tract Diseases |
| C3807025 |
BXGD019529 |
Intermittent episodes of respiratory insufficiency due to muscle weakness |
|
| C4015465 |
BXGD020208 |
Thoracic kyphoscoliosis |
|
| C4021726 |
BXGD020735 |
EMG: myopathic abnormalities |
Musculoskeletal Diseases; Nervous System Diseases |
| C4021728 |
BXGD020737 |
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
|
| C4022584 |
BXGD020925 |
Fatigable weakness of neck muscles |
|
| C4022587 |
BXGD020928 |
Fatigable weakness of respiratory muscles |
|
| C4024601 |
BXGD021334 |
Weakness of long finger extensor muscles |
|
| C4025615 |
BXGD021696 |
Decreased size of nerve terminals |
|
| C4073190 |
BXGD022064 |
Abnormality of masticatory muscle |
|
| C4082299 |
BXGD022088 |
Bulbar palsy |
Nervous System Diseases |
| C4084823 |
BXGD022108 |
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |
|
| C4225405 |
BXGD022266 |
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL |
|
| C4552811 |
BXGD023526 |
Generalized Muscle Weakness, CTCAE |
|