| C0002895 |
BXGD000152 |
Anemia, Sickle Cell |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0004158 |
BXGD000261 |
Athetosis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005890 |
BXGD000345 |
Body Height |
|
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007115 |
BXGD000432 |
Malignant neoplasm of thyroid |
Neoplasms; Endocrine System Diseases |
| C0010520 |
BXGD000675 |
Cyanosis |
Pathological Conditions, Signs and Symptoms |
| C0014877 |
BXGD000967 |
Esotropia |
Eye Diseases; Nervous System Diseases |
| C0018681 |
BXGD001214 |
Headache |
Pathological Conditions, Signs and Symptoms |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0025362 |
BXGD001866 |
Mental Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0025637 |
BXGD001879 |
Methemoglobinemia |
Hemic and Lymphatic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026826 |
BXGD001935 |
Muscle Hypertonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0032461 |
BXGD002356 |
Polycythemia |
Hemic and Lymphatic Diseases |
| C0033626 |
BXGD002412 |
Protein Deficiency |
Nutritional and Metabolic 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 |
| C0037354 |
BXGD002690 |
Smallpox |
Infections |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0151818 |
BXGD003480 |
Opisthotonus |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0154251 |
BXGD003710 |
Lipid Metabolism Disorders |
Nutritional and Metabolic Diseases |
| C0231807 |
BXGD004524 |
Dyspnea on exertion |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0235031 |
BXGD004714 |
Neurologic Symptoms |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0241816 |
BXGD005115 |
Global brain atrophy |
|
| C0268193 |
BXGD005850 |
NADH cytochrome B5 reductase deficiency |
Hemic and Lymphatic Diseases |
| C0272087 |
BXGD006303 |
Congenital Methemoglobinemia |
Hemic and Lymphatic Diseases |
| C0279680 |
BXGD006680 |
Transitional cell carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0281788 |
BXGD006786 |
Biventricular hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0302511 |
BXGD006849 |
Small for gestational age fetus |
Pathological Conditions, Signs and Symptoms |
| C0346957 |
BXGD007836 |
Disseminated Malignant Neoplasm |
Neoplasms |
| C0410702 |
BXGD008447 |
Adolescent idiopathic scoliosis |
Musculoskeletal Diseases |
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426970 |
BXGD008598 |
Spastic Quadriplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0427086 |
BXGD008605 |
Involuntary Movements |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0542514 |
BXGD009277 |
Blue sclera |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0740279 |
BXGD009973 |
Cerebellar atrophy |
|
| C0751093 |
BXGD010317 |
Dystonia, Limb |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0853087 |
BXGD010964 |
Nail abnormality |
Pathological Conditions, Signs and Symptoms |
| C0854373 |
BXGD011017 |
Lip discoloration |
|
| C0857841 |
BXGD011160 |
Vaccinia virus infection |
|
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1277241 |
BXGD012110 |
Delayed myelination |
Mental Disorders |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1837461 |
BXGD014234 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 |
|
| C1861305 |
BXGD016027 |
TARSAL-CARPAL COALITION SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C2677328 |
BXGD017371 |
Cerebral hypomyelination |
|
| C2749559 |
BXGD017623 |
Methemoglobinemia, Type I |
Hemic and Lymphatic Diseases |
| C2749560 |
BXGD017624 |
Methemoglobinemia, Type Ii |
Hemic and Lymphatic Diseases |
| C2749561 |
BXGD017625 |
Nadh-Cytochrome B5 Reductase Deficiency, Type I |
Hemic and Lymphatic Diseases |
| C2749562 |
BXGD017626 |
Nadh-Cytochrome B5 Reductase Deficiency, Type Ii |
Hemic and Lymphatic Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3665425 |
BXGD019286 |
Hemoglobin M Disease |
Hemic and Lymphatic Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4022769 |
BXGD020994 |
Small basal ganglia |
|
| C4024936 |
BXGD021486 |
Temporal cortical atrophy |
|
| C4024965 |
BXGD021506 |
Frontal cortical atrophy |
|
| C4708104 |
BXGD023727 |
Autosomal recessive congenital methemoglobinemia type I |
Hemic and Lymphatic Diseases |
| C4733092 |
BXGD023907 |
estrogen receptor-negative breast cancer |
|