| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000846 |
BXGD000015 |
Agenesis |
|
| C0001787 |
BXGD000076 |
Osteoporosis, Age-Related |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0002382 |
BXGD000109 |
Alveolar Bone Loss |
Musculoskeletal Diseases; Stomatognathic Diseases |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0003123 |
BXGD000178 |
Anorexia |
Pathological Conditions, Signs and Symptoms |
| C0003467 |
BXGD000194 |
Anxiety |
Behavior and Behavior Mechanisms |
| C0003469 |
BXGD000195 |
Anxiety Disorders |
Mental Disorders |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0005940 |
BXGD000352 |
Bone Diseases |
Musculoskeletal Diseases |
| C0005944 |
BXGD000355 |
Metabolic Bone Disorder |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006663 |
BXGD000403 |
Calcinosis |
Nutritional and Metabolic Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007222 |
BXGD000454 |
Cardiovascular Diseases |
Cardiovascular Diseases |
| C0009207 |
BXGD000593 |
Cockayne Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0009319 |
BXGD000596 |
Colitis |
Digestive System Diseases |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0010054 |
BXGD000647 |
Coronary Arteriosclerosis |
Cardiovascular Diseases |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| C0010278 |
BXGD000660 |
Craniosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0011334 |
BXGD000716 |
Dental caries |
Stomatognathic Diseases |
| C0011430 |
BXGD000723 |
Dentin Dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0011570 |
BXGD000729 |
Mental Depression |
Behavior and Behavior Mechanisms |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015967 |
BXGD001030 |
Fever |
Pathological Conditions, Signs and Symptoms |
| C0016506 |
BXGD001062 |
Foot Deformities |
Musculoskeletal Diseases |
| C0016663 |
BXGD001071 |
Pathological fracture |
Wounds and Injuries |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020437 |
BXGD001381 |
Hypercalcemia |
Nutritional and Metabolic Diseases |
| C0020438 |
BXGD001382 |
Hypercalciuria |
Pathological Conditions, Signs and Symptoms |
| C0020443 |
BXGD001385 |
Hypercholesterolemia |
Nutritional and Metabolic Diseases |
| C0020492 |
BXGD001404 |
Hyperostosis |
Musculoskeletal Diseases |
| C0020503 |
BXGD001411 |
Hyperparathyroidism, Secondary |
Endocrine System Diseases |
| C0020630 |
BXGD001454 |
Hypophosphatasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0021368 |
BXGD001502 |
Inflammation |
Pathological Conditions, Signs and Symptoms |
| C0022107 |
BXGD001530 |
Irritable Mood |
Behavior and Behavior Mechanisms |
| C0022333 |
BXGD001534 |
Jacksonian Seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0022408 |
BXGD001544 |
Arthropathy |
Musculoskeletal Diseases |
| C0022650 |
BXGD001568 |
Kidney Calculi |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022658 |
BXGD001570 |
Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0025286 |
BXGD001850 |
Meningioma |
Neoplasms; Nervous System Diseases |
| C0025517 |
BXGD001875 |
Metabolic Diseases |
Nutritional and Metabolic Diseases |
| C0025521 |
BXGD001876 |
Inborn Errors of Metabolism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0025995 |
BXGD001885 |
Micromelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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 |
| C0027709 |
BXGD002026 |
Nephrocalcinosis |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0028259 |
BXGD002073 |
Nodule |
|
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0029410 |
BXGD002138 |
Osteoarthritis of hip |
Musculoskeletal Diseases |
| C0029422 |
BXGD002142 |
Osteochondrodysplasias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0029434 |
BXGD002146 |
Osteogenesis Imperfecta |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0029464 |
BXGD002161 |
Osteosclerosis |
Musculoskeletal Diseases |
| C0031090 |
BXGD002280 |
Periodontal Diseases |
Stomatognathic Diseases |
| C0033300 |
BXGD002403 |
Progeria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0033802 |
BXGD002425 |
Pseudogout |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0033847 |
BXGD002437 |
Pseudoxanthoma Elasticum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0034068 |
BXGD002457 |
Pulmonary Eosinophilia |
Respiratory Tract Diseases; Hemic and Lymphatic Diseases |
| C0035579 |
BXGD002560 |
Rickets |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0036117 |
BXGD002577 |
Salmonella infections |
Infections |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0036690 |
BXGD002632 |
Septicemia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0038013 |
BXGD002725 |
Ankylosing spondylitis |
Musculoskeletal Diseases |
| C0041948 |
BXGD002939 |
Uremia |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0085584 |
BXGD003195 |
Encephalopathies |
Nervous System Diseases |
| C0086565 |
BXGD003295 |
Liver Dysfunction |
Digestive System Diseases |
| C0149958 |
BXGD003395 |
Complex partial seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0151699 |
BXGD003461 |
Intracranial Hemorrhage |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0201850 |
BXGD004053 |
Alkaline phosphatase measurement |
|
| C0202178 |
BXGD004080 |
Phosphorus measurement |
|
| C0202251 |
BXGD004088 |
Vitamin B6 measurement |
|
| C0202252 |
BXGD004089 |
VITAMIN B12 MEASUREMENT |
|
| C0206659 |
BXGD004222 |
Embryonal Carcinoma |
Neoplasms |
| C0220743 |
BXGD004334 |
Childhood hypophosphatasia (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0231712 |
BXGD004519 |
Waddling gait |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234533 |
BXGD004687 |
Generalized seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0234535 |
BXGD004688 |
Clonic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0243026 |
BXGD005210 |
Sepsis |
Pathological Conditions, Signs and Symptoms; Infections |
| C0262444 |
BXGD005244 |
Abnormality of the dentition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0263628 |
BXGD005334 |
Tumoral calcinosis |
Nutritional and Metabolic Diseases |
| C0266039 |
BXGD005612 |
Taurodontism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0266052 |
BXGD005614 |
Precocious exfoliation of primary tooth |
Stomatognathic Diseases |
| C0268412 |
BXGD005937 |
Infantile hypophosphatasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0268413 |
BXGD005938 |
Adult hypophosphatasia (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0270824 |
BXGD006113 |
Visual seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270844 |
BXGD006115 |
Tonic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0270846 |
BXGD006116 |
Epileptic drop attack |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0340076 |
BXGD007302 |
Asthmatic pulmonary eosinophilia |
Respiratory Tract Diseases; Hemic and Lymphatic Diseases |
| C0342649 |
BXGD007522 |
Vascular calcification |
Nutritional and Metabolic Diseases |
| C0344315 |
BXGD007666 |
Depressed mood |
Behavior and Behavior Mechanisms |
| C0344911 |
BXGD007707 |
Left ventricular dilatation |
|
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0392525 |
BXGD008052 |
Nephrolithiasis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0409860 |
BXGD008397 |
Rotator cuff tear arthropathy |
Musculoskeletal Diseases |
| C0410528 |
BXGD008430 |
Skeletal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0410529 |
BXGD008431 |
Hypochondroplasia (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0410719 |
BXGD008448 |
Deformity of bone |
Musculoskeletal Diseases |
| C0422850 |
BXGD008457 |
Seizures, Somatosensory |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0422852 |
BXGD008458 |
Seizures, Auditory |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0422853 |
BXGD008459 |
Olfactory seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0422854 |
BXGD008460 |
Gustatory seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0422855 |
BXGD008461 |
Vertiginous seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0426817 |
BXGD008585 |
Short ribs |
|
| C0426901 |
BXGD008597 |
Short leg |
|
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0520739 |
BXGD009106 |
Hereditary pyropoikilocytosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0521174 |
BXGD009133 |
Microcalcification |
Nutritional and Metabolic Diseases |
| C0523827 |
BXGD009220 |
Inorganic phosphate measurement |
|
| C0542514 |
BXGD009277 |
Blue sclera |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0543918 |
BXGD009302 |
SCHIZOPHRENIA 10 |
|
| C0544755 |
BXGD009310 |
Genu varum |
Musculoskeletal Diseases |
| C0549567 |
BXGD009387 |
Pigmentation Disorders |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0553730 |
BXGD009417 |
Calcium pyrophosphate deposition disease |
Musculoskeletal Diseases |
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0595939 |
BXGD009629 |
Stillbirth |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0751056 |
BXGD010306 |
Non-epileptic convulsion |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751110 |
BXGD010318 |
Single Seizure |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751123 |
BXGD010326 |
Atonic Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751494 |
BXGD010472 |
Convulsive Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751495 |
BXGD010473 |
Seizures, Focal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0751496 |
BXGD010474 |
Seizures, Sensory |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0795796 |
BXGD010732 |
Chromosome 1, monosomy 1p |
Pathological Conditions, Signs and Symptoms |
| C0877009 |
BXGD011326 |
Muscle fibrosis |
|
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1390474 |
BXGD012969 |
Increased susceptibility to fractures |
|
| C1704328 |
BXGD013547 |
Osteoblastic Osteosarcoma |
Neoplasms |
| C1704330 |
BXGD013548 |
Dental Diseases |
Stomatognathic Diseases |
| C1704421 |
BXGD013558 |
Skin Pigmentation Disorder |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1833762 |
BXGD013945 |
Decreased calvarial ossification |
|
| C1837082 |
BXGD014194 |
Metaphyseal cupping |
|
| C1840322 |
BXGD014448 |
ODONTOHYPOPHOSPHATASIA (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Stomatognathic Diseases |
| C1844704 |
BXGD014665 |
Platyspondyly |
|
| C1849300 |
BXGD015032 |
Widely patent fontanelles and sutures |
|
| C1849937 |
BXGD015091 |
Disproportionate short-limb short stature |
|
| C1855815 |
BXGD015548 |
Skin dimple over apex of long bone angulation |
|
| C1855828 |
BXGD015549 |
Vertebral clefting |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858430 |
BXGD015792 |
Death in infancy |
|
| C1859722 |
BXGD015925 |
Arthrogryposis, renal dysfunction, and cholestasis 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases |
| C1860130 |
BXGD015958 |
Low alkaline phosphatase |
|
| C1860202 |
BXGD015966 |
Unossified vertebral bodies |
|
| C1861922 |
BXGD016094 |
CAMPOMELIC DYSPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1956346 |
BXGD016627 |
Coronary Artery Disease |
Cardiovascular Diseases |
| C1969738 |
BXGD016792 |
Premature loss of permanent teeth |
|
| C2363774 |
BXGD017105 |
Neutrophilic asthma |
|
| C2363819 |
BXGD017108 |
Paucigranulocytic asthma |
|
| C2673477 |
BXGD017206 |
Hypophosphatasia, Perinatal Lethal |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C2700617 |
BXGD017474 |
Irritation - emotion |
Behavior and Behavior Mechanisms |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2919414 |
BXGD017873 |
Low density lipoprotein receptor mutation |
|
| C3495874 |
BXGD019008 |
Nonepileptic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3805574 |
BXGD019481 |
Increased fracture rate |
|
| C3806482 |
BXGD019514 |
Recurrent respiratory infections |
Infections; Respiratory Tract Diseases |
| C3887650 |
BXGD019911 |
Adult Rickets |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C4021776 |
BXGD020772 |
Abnormality of the voice |
|
| C4023157 |
BXGD021127 |
Elevated plasma pyrophosphate |
|
| C4025607 |
BXGD021690 |
Elevated urine pyrophosphate |
|
| C4048158 |
BXGD021890 |
Convulsions |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4316903 |
BXGD022711 |
Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4317109 |
BXGD022725 |
Epileptic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4317123 |
BXGD022727 |
Myoclonic Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4505436 |
BXGD022962 |
Generalized Absence Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4551565 |
BXGD023353 |
Rachitic rosary |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C4552810 |
BXGD023525 |
Irritability, CTCAE |
|