| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001403 |
BXGD000048 |
Addison Disease |
Immune System Diseases; Endocrine System Diseases |
| C0001623 |
BXGD000066 |
Adrenal gland hypofunction |
Endocrine System Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0004114 |
BXGD000255 |
Astrocytoma |
Neoplasms |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| 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 |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0009319 |
BXGD000596 |
Colitis |
Digestive System Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0013604 |
BXGD000859 |
Edema |
Pathological Conditions, Signs and Symptoms |
| C0017668 |
BXGD001143 |
Focal glomerulosclerosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020179 |
BXGD001363 |
Huntington Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0020305 |
BXGD001374 |
Hydrops Fetalis |
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 |
| C0020456 |
BXGD001392 |
Hyperglycemia |
Nutritional and Metabolic Diseases |
| C0020557 |
BXGD001432 |
Hypertriglyceridemia |
Nutritional and Metabolic Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0020757 |
BXGD001466 |
Ichthyoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0020758 |
BXGD001467 |
Congenital ichthyosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0023051 |
BXGD001602 |
Laryngeal Diseases |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0024117 |
BXGD001734 |
Chronic Obstructive Airway Disease |
Respiratory Tract Diseases |
| C0024312 |
BXGD001766 |
Lymphopenia |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0025521 |
BXGD001876 |
Inborn Errors of Metabolism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027720 |
BXGD002028 |
Nephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027726 |
BXGD002030 |
Nephrotic Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0032285 |
BXGD002344 |
Pneumonia |
Infections; Respiratory Tract Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033687 |
BXGD002415 |
Proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0034069 |
BXGD002458 |
Pulmonary Fibrosis |
Respiratory Tract Diseases |
| C0034880 |
BXGD002488 |
Hyperacusis |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0037205 |
BXGD002672 |
Sirenomelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0037899 |
BXGD002710 |
Sphingolipidoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0175701 |
BXGD004007 |
Aarskog syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases |
| C0234985 |
BXGD004708 |
Mental deterioration |
Mental Disorders |
| C0239981 |
BXGD005011 |
Hypoalbuminemia |
Hemic and Lymphatic Diseases |
| C0242339 |
BXGD005150 |
Dyslipidemias |
Nutritional and Metabolic Diseases |
| C0266449 |
BXGD005670 |
Congenital anomaly of brain |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases |
| C0268747 |
BXGD006034 |
Diffuse mesangial sclerosis (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0271650 |
BXGD006227 |
Impaired glucose tolerance |
Nutritional and Metabolic Diseases |
| C0271742 |
BXGD006254 |
Glucocorticoid deficiency with achalasia |
Digestive System Diseases; Endocrine System Diseases |
| C0271750 |
BXGD006256 |
Adrenal calcification |
Endocrine System Diseases |
| C0279613 |
BXGD006651 |
Childhood Alveolar Rhabdomyosarcoma |
Neoplasms |
| C0403397 |
BXGD008277 |
Steroid-resistant nephrotic syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0427460 |
BXGD008616 |
Red cell distribution width determination |
|
| C0442874 |
BXGD008814 |
Neuropathy |
Nervous System Diseases |
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0494463 |
BXGD009029 |
Alzheimer Disease, Late Onset |
Nervous System Diseases; Mental Disorders |
| C0521654 |
BXGD009156 |
Neurologic Deficits |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0810031 |
BXGD010842 |
alcohol-related liver disease |
Digestive System Diseases |
| C1291557 |
BXGD012217 |
Deficiency of lyase |
|
| C1304746 |
BXGD012343 |
RDW - Red blood cell distribution width result |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1836830 |
BXGD014165 |
Developmental regression |
Mental Disorders |
| C1846009 |
BXGD014773 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases |
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C2316810 |
BXGD017030 |
Chronic kidney disease stage 5 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2985280 |
BXGD018223 |
Blood Protein Measurement |
|
| C3266102 |
BXGD018597 |
Steroid resistant nephrotic syndrome of childhood |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3501848 |
BXGD019031 |
Nephrosis, congenital |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3714636 |
BXGD019421 |
Pneumonitis |
Infections; Respiratory Tract Diseases |
| C3887896 |
BXGD019925 |
Primary Adrenal Insufficiency |
|
| C4048329 |
BXGD021904 |
Immunosuppression |
|
| C4284088 |
BXGD022434 |
MIRAGE SYNDROME |
Pathological Conditions, Signs and Symptoms |
| C4540559 |
BXGD023270 |
NEPHROTIC SYNDROME, TYPE 14 |
|
| C4721453 |
BXGD023744 |
Peripheral Nervous System Diseases |
Nervous System Diseases |