| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002768 |
BXGD000128 |
Congenital Pain Insensitivity |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System 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 |
| C0007114 |
BXGD000431 |
Malignant neoplasm of skin |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007766 |
BXGD000478 |
Intracranial Aneurysm |
Nervous System Diseases; Cardiovascular Diseases |
| C0008497 |
BXGD000549 |
Choriocarcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011168 |
BXGD000700 |
Deglutition Disorders |
Digestive System Diseases; Otorhinolaryngologic Diseases |
| C0011570 |
BXGD000729 |
Mental Depression |
Behavior and Behavior Mechanisms |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013363 |
BXGD000818 |
Dysautonomia |
Nervous System Diseases |
| C0014070 |
BXGD000887 |
Encephalomyelitis |
Infections; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0016663 |
BXGD001071 |
Pathological fracture |
Wounds and Injuries |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0018916 |
BXGD001245 |
Hemangioma |
Neoplasms |
| C0019825 |
BXGD001349 |
Hoarseness |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0020458 |
BXGD001393 |
Hyperhidrosis disorder |
Skin and Connective Tissue Diseases |
| C0020620 |
BXGD001448 |
Hypohidrosis |
Skin and Connective Tissue Diseases |
| C0020624 |
BXGD001450 |
Hypomenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0024232 |
BXGD001751 |
Lymphatic Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0025995 |
BXGD001885 |
Micromelia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0026277 |
BXGD001899 |
Mixed Salivary Gland Tumor |
Neoplasms |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027125 |
BXGD001975 |
Myotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027794 |
BXGD002036 |
Neural Tube Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0027889 |
BXGD002057 |
Hereditary Sensory and Autonomic Neuropathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0029422 |
BXGD002142 |
Osteochondrodysplasias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0029453 |
BXGD002154 |
Osteopenia |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0030554 |
BXGD002239 |
Paresthesia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0032460 |
BXGD002355 |
Polycystic Ovary Syndrome |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0033375 |
BXGD002405 |
Prolactinoma |
Neoplasms; Nervous System Diseases; Endocrine System Diseases |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0033770 |
BXGD002417 |
Prune Belly Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0035021 |
BXGD002501 |
Relapsing Fever |
Infections |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036421 |
BXGD002613 |
Systemic Scleroderma |
Skin and Connective Tissue Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0037917 |
BXGD002711 |
Spina Bifida Cystica |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0038505 |
BXGD002765 |
Sturge-Weber Syndrome |
Neoplasms; Nervous System Diseases; Cardiovascular Diseases |
| C0041105 |
BXGD002895 |
Trismus |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0042373 |
BXGD002978 |
Vascular Diseases |
Cardiovascular Diseases |
| C0079924 |
BXGD003103 |
Oligohydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0149721 |
BXGD003349 |
Left Ventricular Hypertrophy |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0151449 |
BXGD003419 |
Primary Sjögren's syndrome |
Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases |
| C0151572 |
BXGD003442 |
Reflex, Corneal, Decreased |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0153452 |
BXGD003647 |
Malignant neoplasm of gallbladder |
Digestive System Diseases; Neoplasms |
| C0153676 |
BXGD003679 |
Secondary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0153690 |
BXGD003684 |
Secondary malignant neoplasm of bone |
Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases |
| C0155964 |
BXGD003836 |
Atrophy of tongue papillae |
Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221406 |
BXGD004459 |
Pituitary-dependent Cushing's disease |
Nervous System Diseases; Endocrine System Diseases |
| C0231679 |
BXGD004507 |
Ulnar deviation of the fingers |
|
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0235782 |
BXGD004769 |
Gallbladder Carcinoma |
Digestive System Diseases; Neoplasms |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0262444 |
BXGD005244 |
Abnormality of the dentition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0265783 |
BXGD005575 |
Congenital hypoplasia of lung |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases |
| C0266283 |
BXGD005642 |
Ectopic thyroid tissue (disorder) |
|
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0338480 |
BXGD007186 |
Common Migraine |
Nervous System Diseases |
| C0339537 |
BXGD007264 |
Cone monochromatism |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0341858 |
BXGD007425 |
Endometriosis of uterus |
Female Urogenital Diseases and Pregnancy Complications |
| C0344315 |
BXGD007666 |
Depressed mood |
Behavior and Behavior Mechanisms |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349398 |
BXGD007901 |
Paranoid delusion |
Mental Disorders; Behavior and Behavior Mechanisms |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0409338 |
BXGD008381 |
Flexion contracture - elbow |
|
| C0409348 |
BXGD008384 |
Flexion contracture of proximal interphalangeal joint |
|
| C0410528 |
BXGD008430 |
Skeletal dysplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0423112 |
BXGD008472 |
Short palpebral fissure |
|
| C0423250 |
BXGD008476 |
Corneal stromal opacities |
Eye Diseases |
| C0423757 |
BXGD008504 |
Thin skin |
|
| C0424731 |
BXGD008542 |
Single transverse palmar crease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0426818 |
BXGD008586 |
Thin rib |
|
| C0426848 |
BXGD008590 |
Sacral dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0432240 |
BXGD008751 |
Stuve-Wiedemann dysplasia |
|
| C0457928 |
BXGD008898 |
Bent bone dysplasia group |
|
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0558844 |
BXGD009458 |
Knee reflex absent |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0566620 |
BXGD009490 |
Nasal voice |
|
| C0576093 |
BXGD009525 |
Knee joint valgus deformity |
Musculoskeletal Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0751495 |
BXGD010473 |
Seizures, Focal |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0796176 |
BXGD010809 |
STUVE-WIEDEMANN SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases |
| C0877165 |
BXGD011338 |
Short phalanx of finger |
|
| C0878659 |
BXGD011380 |
Disproportionate short stature |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0917799 |
BXGD011410 |
Hypersomnia |
Nervous System Diseases; Mental Disorders |
| C1136382 |
BXGD011717 |
Sclerocystic Ovaries |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1167791 |
BXGD011776 |
Skin toxicity |
|
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1301937 |
BXGD012300 |
Talipes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1306214 |
BXGD012356 |
ACTH-Secreting Pituitary Adenoma |
Neoplasms; Nervous System Diseases; Endocrine System Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1378703 |
BXGD012933 |
Renal carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1392786 |
BXGD012978 |
Cognitive changes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1406835 |
BXGD013031 |
Flexion contracture of toe |
|
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1504382 |
BXGD013140 |
Pulmonary arterial medial hypertrophy |
Respiratory Tract Diseases |
| C1519670 |
BXGD013241 |
Tumor Angiogenesis |
Pathological Conditions, Signs and Symptoms |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1704268 |
BXGD013536 |
Delusion of persecution |
Behavior and Behavior Mechanisms |
| C1720830 |
BXGD013687 |
Painful Bladder Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1832127 |
BXGD013800 |
Square face |
|
| C1832130 |
BXGD013801 |
Pursed lips |
|
| C1832146 |
BXGD013802 |
Metaphyseal rarefaction |
|
| C1832409 |
BXGD013840 |
Crisponi syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C1836868 |
BXGD014173 |
Broad ischia |
|
| C1837081 |
BXGD014193 |
Tibial bowing |
Musculoskeletal Diseases |
| C1837522 |
BXGD014244 |
Impaired pain sensation |
|
| C1840418 |
BXGD014466 |
Thickened cortex of long bones |
|
| C1849034 |
BXGD014998 |
Hypoplastic iliac body |
|
| C1849039 |
BXGD014999 |
Metaphyseal widening |
|
| C1849667 |
BXGD015073 |
Wide nasal base |
|
| C1850135 |
BXGD015112 |
Flared metaphysis |
|
| C1850259 |
BXGD015125 |
Short tibia |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1855739 |
BXGD015538 |
Indifference to Pain, Congenital, Autosomal Recessive |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1857139 |
BXGD015679 |
Abnormal metaphyseal trabeculation |
|
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859111 |
BXGD015852 |
Enlarged joints |
|
| C1859461 |
BXGD015895 |
Femoral bowing |
Musculoskeletal Diseases |
| C1863727 |
BXGD016191 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 |
Hemic and Lymphatic Diseases |
| C1868938 |
BXGD016542 |
End stage cardiac failure |
|
| C1968949 |
BXGD016744 |
Cakut |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2363741 |
BXGD017100 |
HIV-1 infection |
|
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931822 |
BXGD018068 |
Nasopharyngeal carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C2973725 |
BXGD018205 |
Pulmonary arterial hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3554612 |
BXGD019226 |
Contracture of the proximal interphalangeal joint of the 5th finger |
|
| C3554617 |
BXGD019228 |
Adducted thumb |
Musculoskeletal Diseases |
| C3714772 |
BXGD019433 |
Recurrent fevers |
|
| C3805574 |
BXGD019481 |
Increased fracture rate |
|
| C4021800 |
BXGD020790 |
Abnormality of dental enamel |
|
| C4021801 |
BXGD020791 |
Lacrimation abnormality |
|
| C4024831 |
BXGD021433 |
Blotching pigmentation of the skin |
|
| C4025846 |
BXGD021826 |
Abnormality of vision |
|
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4525297 |
BXGD023131 |
Stage 0 Gallbladder Cancer AJCC v8 |
|
| C4525300 |
BXGD023132 |
Stage IIA Gallbladder Cancer AJCC v8 |
|
| C4525301 |
BXGD023133 |
Stage IIB Gallbladder Cancer AJCC v8 |
|
| C4525302 |
BXGD023134 |
Stage III Gallbladder Cancer AJCC v8 |
|
| C4525305 |
BXGD023135 |
Stage IV Gallbladder Cancer AJCC v8 |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |