| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| 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 |
| C0013404 |
BXGD000833 |
Dyspnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0013604 |
BXGD000859 |
Edema |
Pathological Conditions, Signs and Symptoms |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0015672 |
BXGD001011 |
Fatigue |
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 |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0022972 |
BXGD001596 |
Lambert-Eaton Myasthenic Syndrome |
Neoplasms; Immune System Diseases; Nervous System 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 |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0026896 |
BXGD001946 |
Myasthenia Gravis |
Neoplasms; Immune System Diseases; Nervous System Diseases |
| C0027868 |
BXGD002053 |
Neuromuscular Diseases |
Nervous System Diseases |
| 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 |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0085619 |
BXGD003207 |
Orthopnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0085623 |
BXGD003210 |
Akinesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0206620 |
BXGD004187 |
Lymphangioma, Cystic |
Neoplasms |
| C0231807 |
BXGD004524 |
Dyspnea on exertion |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0234544 |
BXGD004689 |
Todd Paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| 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 |
| 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 |
| C0476408 |
BXGD008994 |
Reduced vital capacity |
|
| C0522224 |
BXGD009198 |
Paralysed |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0541794 |
BXGD009262 |
Skeletal muscle atrophy |
|
| C0549225 |
BXGD009364 |
Myasthenic Syndrome |
|
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| 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 |
| C0751883 |
BXGD010627 |
Congenital Myasthenic Syndromes, Postsynaptic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0751884 |
BXGD010628 |
Congenital Myasthenic Syndromes, Presynaptic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0751885 |
BXGD010629 |
Myasthenic Syndromes, Congenital, Slow Channel |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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 |
| C1390474 |
BXGD012969 |
Increased susceptibility to fractures |
|
| C1834536 |
BXGD013977 |
Weakness of the intrinsic hand muscles |
|
| C1837092 |
BXGD014197 |
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1837098 |
BXGD014198 |
Easy fatigability |
|
| C1837122 |
BXGD014200 |
Myasthenic Syndrome, Congenital, Fast-Channel |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| 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 |
|
| 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 |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| 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 |
| 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 |
|
| C3808046 |
BXGD019538 |
Breathing dysregulation |
|
| 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 |
|
| C4084823 |
BXGD022108 |
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |
|
| C4225370 |
BXGD022246 |
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY |
|
| C4225371 |
BXGD022247 |
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL |
|
| C4225372 |
BXGD022248 |
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL |
|
| C4552811 |
BXGD023526 |
Generalized Muscle Weakness, CTCAE |
|