| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0009917 |
BXGD000635 |
Contracture |
Musculoskeletal Diseases |
| C0015310 |
BXGD000976 |
Exotropia |
Eye Diseases; Nervous System Diseases |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020725 |
BXGD001465 |
Type II Mucolipidosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0022972 |
BXGD001596 |
Lambert-Eaton Myasthenic Syndrome |
Neoplasms; Immune System Diseases; Nervous System Diseases |
| C0023281 |
BXGD001628 |
Leishmaniasis |
Infections; Skin and Connective Tissue Diseases |
| C0023283 |
BXGD001629 |
Leishmaniasis, Cutaneous |
Infections; Skin and Connective Tissue Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026697 |
BXGD001918 |
Mucolipidoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; 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 |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| 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 |
| C0037763 |
BXGD002699 |
Spasm |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038356 |
BXGD002747 |
Stomach Neoplasms |
Digestive System Diseases; Neoplasms |
| C0038506 |
BXGD002766 |
Stuttering |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| C0086437 |
BXGD003282 |
Joint laxity |
Musculoskeletal Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0153381 |
BXGD003626 |
Malignant neoplasm of mouth |
Neoplasms; Stomatognathic Diseases |
| C0162565 |
BXGD003957 |
Acute intermittent porphyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0220641 |
BXGD004305 |
Lip and Oral Cavity Carcinoma |
Neoplasms; Stomatognathic Diseases |
| C0221629 |
BXGD004467 |
Proximal muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; 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 |
|
| C0235874 |
BXGD004781 |
Disease Exacerbation |
Pathological Conditions, Signs and Symptoms |
| C0239067 |
BXGD004961 |
Difficulty walking up stairs |
Pathological Conditions, Signs and Symptoms |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0240953 |
BXGD005067 |
Winged scapula |
|
| C0241005 |
BXGD005072 |
Creatine phosphokinase serum increased |
|
| C0269269 |
BXGD006058 |
Inversion of nipple (disorder) |
Skin and Connective Tissue Diseases |
| C0282577 |
BXGD006816 |
Congenital Disorders of Glycosylation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0282687 |
BXGD006826 |
Hemorrhagic Fever, Ebola |
Infections |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0333768 |
BXGD006968 |
Tubular aggregates |
|
| C0424731 |
BXGD008542 |
Single transverse palmar crease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0427065 |
BXGD008604 |
Distal muscle weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0549225 |
BXGD009364 |
Myasthenic Syndrome |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0560346 |
BXGD009475 |
Difficulty running |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0578531 |
BXGD009548 |
Skin dimple |
|
| 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 |
| C0850703 |
BXGD010905 |
Frequent falls |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0947912 |
BXGD011497 |
Myasthenias |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1184923 |
BXGD011800 |
Lumbar hyperlordosis |
Musculoskeletal Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1276035 |
BXGD012100 |
Pena-Shokeir syndrome type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1708349 |
BXGD013597 |
Hereditary Diffuse Gastric Cancer |
Digestive System Diseases; Neoplasms |
| C1836038 |
BXGD014073 |
Poor head control |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C1837098 |
BXGD014198 |
Easy fatigability |
|
| C1837899 |
BXGD014285 |
Type I transferrin isoform profile |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1854387 |
BXGD015396 |
Type 1 muscle fiber predominance |
|
| C1854494 |
BXGD015409 |
Slow progression |
|
| 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 |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2931004 |
BXGD017932 |
Congenital disorder of glycosylation type 1J |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C3275417 |
BXGD018663 |
Ragged-red muscle fibers |
|
| C3553645 |
BXGD019181 |
MYASTHENIC SYNDROME, CONGENITAL, 13 |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4021024 |
BXGD020522 |
Muscle fiber tubular inclusions |
|
| C4021045 |
BXGD020533 |
Increased jitter at single fibre EMG |
|
| C4021728 |
BXGD020737 |
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
|
| C4022581 |
BXGD020923 |
Favorable response of weakness to acetylcholine esterase inhibitors |
|
| C4024605 |
BXGD021336 |
Generalized weakness of limb muscles |
|
| C4317295 |
BXGD022737 |
Congenital disorder of glycosylation type 1s |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|