| C0003886 |
BXGD000238 |
Arthrogryposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0015469 |
BXGD000996 |
Facial paralysis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases |
| C0018799 |
BXGD001224 |
Heart Diseases |
Cardiovascular Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0023524 |
BXGD001681 |
Leukoencephalopathy, Progressive Multifocal |
Infections; Nervous System Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026847 |
BXGD001940 |
Spinal Muscular Atrophy |
Nervous System Diseases |
| C0026848 |
BXGD001941 |
Myopathy |
Musculoskeletal Diseases; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035372 |
BXGD002544 |
Rett Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036690 |
BXGD002632 |
Septicemia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0043116 |
BXGD003028 |
HMN (Hereditary Motor Neuropathy) Proximal Type I |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0152421 |
BXGD003586 |
Macrotia |
|
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0234146 |
BXGD004626 |
Absent reflex |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0239548 |
BXGD004984 |
Fasciculation, Tongue |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0240379 |
BXGD005033 |
Open mouth (finding) |
|
| C0243026 |
BXGD005210 |
Sepsis |
Pathological Conditions, Signs and Symptoms; Infections |
| C0262404 |
BXGD005236 |
Cerebellar degeneration |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0332615 |
BXGD006898 |
Myopathic facies |
|
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0426790 |
BXGD008577 |
Narrow thorax |
|
| C0521525 |
BXGD009139 |
Short neck |
|
| C0575081 |
BXGD009512 |
Gait abnormality |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0578531 |
BXGD009548 |
Skin dimple |
|
| C0700595 |
BXGD009895 |
Spinal Muscular Atrophies of Childhood |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1836940 |
BXGD014182 |
Thickened nuchal skin fold |
|
| C1839630 |
BXGD014391 |
Severe muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1843505 |
BXGD014590 |
Degeneration of anterior horn cells |
Nervous System Diseases |
| C1844934 |
BXGD014697 |
Arthrogryposis multiplex congenita, distal, X-linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1862095 |
BXGD016100 |
Bilateral single transverse palmar creases |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865572 |
BXGD016331 |
Proximal placement of thumb |
|
| C1867873 |
BXGD016473 |
Failure to thrive in infancy |
|
| C2062441 |
BXGD016897 |
Influenza A |
|
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3554617 |
BXGD019228 |
Adducted thumb |
Musculoskeletal Diseases |
| C3806467 |
BXGD019513 |
Respiratory insufficiency due to muscle weakness |
Respiratory Tract Diseases |
| C3854222 |
BXGD019826 |
Human immunodeficiency virus (HIV) II infection category B1 |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4551915 |
BXGD023441 |
Gait Disturbance, CTCAE |
|