| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0002312 |
BXGD000107 |
alpha-Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0002793 |
BXGD000130 |
Anaplasia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0002884 |
BXGD000143 |
Hypochromic anemia |
Hemic and Lymphatic Diseases |
| C0003123 |
BXGD000178 |
Anorexia |
Pathological Conditions, Signs and Symptoms |
| C0004114 |
BXGD000255 |
Astrocytoma |
Neoplasms |
| C0004277 |
BXGD000266 |
Tooth Attrition |
Stomatognathic Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0005283 |
BXGD000308 |
beta Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006266 |
BXGD000382 |
Bronchospasm |
Respiratory Tract Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009080 |
BXGD000580 |
Clubbed Fingers |
Musculoskeletal Diseases |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009806 |
BXGD000633 |
Constipation |
Pathological Conditions, Signs and Symptoms |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010606 |
BXGD000677 |
Adenoid Cystic Carcinoma |
Neoplasms |
| C0011581 |
BXGD000733 |
Depressive disorder |
Mental Disorders |
| C0013132 |
BXGD000799 |
Drooling |
Stomatognathic Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013404 |
BXGD000833 |
Dyspnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0014038 |
BXGD000878 |
Encephalitis |
Nervous System Diseases |
| C0014474 |
BXGD000917 |
Ependymoma |
Neoplasms |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0015310 |
BXGD000976 |
Exotropia |
Eye Diseases; Nervous System Diseases |
| C0015625 |
BXGD001006 |
Fanconi Anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0016202 |
BXGD001050 |
Flatfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018273 |
BXGD001189 |
Growth Disorders |
Pathological Conditions, Signs and Symptoms |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018926 |
BXGD001250 |
Hematemesis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019294 |
BXGD001314 |
Hernia, Inguinal |
Pathological Conditions, Signs and Symptoms |
| C0019348 |
BXGD001325 |
Herpes Simplex Infections |
Infections; Skin and Connective Tissue Diseases |
| C0019372 |
BXGD001329 |
Herpesviridae Infections |
Infections |
| C0019569 |
BXGD001337 |
Hirschsprung Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0020179 |
BXGD001363 |
Huntington Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0020295 |
BXGD001372 |
Hydronephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0020649 |
BXGD001459 |
Hypotension |
Cardiovascular Diseases |
| C0021051 |
BXGD001475 |
Immunologic Deficiency Syndromes |
Immune System Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023449 |
BXGD001650 |
Acute lymphocytic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023452 |
BXGD001651 |
Childhood Acute Lymphoblastic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023487 |
BXGD001669 |
Acute Promyelocytic Leukemia |
Neoplasms |
| C0023524 |
BXGD001681 |
Leukoencephalopathy, Progressive Multifocal |
Infections; Nervous System Diseases |
| C0023882 |
BXGD001710 |
Little's Disease |
Nervous System Diseases |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024421 |
BXGD001770 |
Macroglossia |
Stomatognathic Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025222 |
BXGD001838 |
Melena |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0025267 |
BXGD001845 |
Multiple Endocrine Neoplasia Type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System 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 |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026499 |
BXGD001905 |
Monosomy |
Pathological Conditions, Signs and Symptoms |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026838 |
BXGD001938 |
Muscle Spasticity |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0026985 |
BXGD001956 |
Myelodysplasia |
|
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027498 |
BXGD001994 |
Nausea and vomiting |
Pathological Conditions, Signs and Symptoms |
| 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 |
| C0027830 |
BXGD002046 |
neurofibroma |
Neoplasms; Nervous System Diseases |
| C0027831 |
BXGD002047 |
Neurofibromatosis 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0027947 |
BXGD002061 |
Neutropenia |
Hemic and Lymphatic Diseases |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0028945 |
BXGD002099 |
oligodendroglioma |
Neoplasms |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| C0030252 |
BXGD002199 |
Palpitations |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0030297 |
BXGD002204 |
Pancreatic Neoplasm |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0030421 |
BXGD002218 |
Paraganglioma |
Neoplasms |
| C0030521 |
BXGD002235 |
Parathyroid Neoplasms |
Neoplasms; Endocrine System Diseases |
| C0030846 |
BXGD002260 |
Penile Diseases |
Male Urogenital Diseases |
| C0031511 |
BXGD002304 |
Pheochromocytoma |
Neoplasms |
| C0031941 |
BXGD002317 |
Pineal Gland Neoplasm |
Neoplasms; Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033999 |
BXGD002448 |
Pterygium |
Eye Diseases |
| C0035335 |
BXGD002540 |
Retinoblastoma |
Neoplasms; Eye Diseases |
| C0035372 |
BXGD002544 |
Rett Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System 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 |
| C0036980 |
BXGD002649 |
Shock, Cardiogenic |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0037772 |
BXGD002703 |
Spastic Paraplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0038271 |
BXGD002742 |
Stereotyped Behavior |
Behavior and Behavior Mechanisms |
| C0038273 |
BXGD002743 |
Stereotypic Movement Disorder |
Mental Disorders |
| C0038454 |
BXGD002760 |
Cerebrovascular accident |
Nervous System Diseases; Cardiovascular Diseases |
| C0039101 |
BXGD002790 |
synovial sarcoma |
Neoplasms |
| C0039730 |
BXGD002826 |
Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0039978 |
BXGD002830 |
Thoracic Diseases |
Respiratory Tract Diseases |
| C0040034 |
BXGD002836 |
Thrombocytopenia |
Hemic and Lymphatic Diseases |
| C0040124 |
BXGD002842 |
Thyroglossal Cyst |
Neoplasms |
| C0040961 |
BXGD002891 |
Tricuspid Valve Insufficiency |
Cardiovascular Diseases |
| C0042063 |
BXGD002953 |
Urogenital Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042580 |
BXGD002992 |
Vesico-Ureteral Reflux |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0042961 |
BXGD003017 |
Intestinal Volvulus |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0042963 |
BXGD003018 |
Vomiting |
Pathological Conditions, Signs and Symptoms |
| C0043515 |
BXGD003049 |
Zollinger-Ellison syndrome |
Digestive System Diseases; Neoplasms |
| C0079924 |
BXGD003103 |
Oligohydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0085136 |
BXGD003131 |
Central Nervous System Neoplasms |
Neoplasms; Nervous System Diseases |
| C0085271 |
BXGD003148 |
Self-Injurious Behavior |
Behavior and Behavior Mechanisms |
| C0085576 |
BXGD003188 |
Iron-Refractory Iron Deficiency Anemia |
Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0085605 |
BXGD003200 |
Liver Failure |
Digestive System Diseases |
| C0085636 |
BXGD003218 |
Photophobia |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0085669 |
BXGD003233 |
Acute leukemia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0152237 |
BXGD003569 |
Talipes Calcaneovalgus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0152423 |
BXGD003587 |
Congenital small ears |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases |
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0162298 |
BXGD003933 |
Joint stiffness |
Musculoskeletal Diseases |
| C0162316 |
BXGD003936 |
Iron deficiency anemia |
Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0162678 |
BXGD003974 |
Neurofibromatoses |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0205768 |
BXGD004119 |
Subependymal Giant Cell Astrocytoma |
Neoplasms |
| C0206064 |
BXGD004150 |
Microvascular Angina |
Cardiovascular Diseases |
| C0206659 |
BXGD004222 |
Embryonal Carcinoma |
Neoplasms |
| C0206663 |
BXGD004225 |
Neuroectodermal Tumor, Primitive |
Neoplasms |
| C0206754 |
BXGD004289 |
Neuroendocrine Tumors |
Neoplasms |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0232462 |
BXGD004542 |
Decrease in appetite |
Digestive System Diseases; Nervous System Diseases; Mental Disorders |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0235527 |
BXGD004753 |
Heart Failure, Right-Sided |
Cardiovascular Diseases |
| C0235946 |
BXGD004789 |
Cerebral atrophy |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0236734 |
BXGD004823 |
Caffeine related disorders |
|
| C0238395 |
BXGD004922 |
Male Pseudohermaphroditism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0238461 |
BXGD004936 |
Anaplastic thyroid carcinoma |
Neoplasms |
| C0239137 |
BXGD004965 |
Coxa valga |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0239181 |
BXGD004970 |
Intermittent diarrhea |
Pathological Conditions, Signs and Symptoms |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240379 |
BXGD005033 |
Open mouth (finding) |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241355 |
BXGD005092 |
Small testicle |
|
| C0241442 |
BXGD005099 |
Protrusion of tongue |
|
| C0242363 |
BXGD005156 |
Islet Cell Tumor |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0259783 |
BXGD005221 |
mixed gliomas |
Neoplasms |
| C0262444 |
BXGD005244 |
Abnormality of the dentition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0262587 |
BXGD005259 |
Parathyroid Adenoma |
Neoplasms; Endocrine System Diseases |
| C0262655 |
BXGD005264 |
Recurrent urinary tract infection |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265677 |
BXGD005564 |
Congenital hemivertebra |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266050 |
BXGD005613 |
Failure of exfoliation of primary tooth |
|
| C0266295 |
BXGD005645 |
Congenital hypoplasia of kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0271901 |
BXGD006277 |
Microcytic hypochromic anemia (disorder) |
Hemic and Lymphatic Diseases |
| C0272005 |
BXGD006294 |
Hemoglobin Bart's hydrops syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0278660 |
BXGD006555 |
Adult Synovial Sarcoma |
Neoplasms |
| C0278694 |
BXGD006564 |
Disseminated neuroblastoma |
Neoplasms |
| C0278874 |
BXGD006605 |
Adult Ependymoma |
Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279070 |
BXGD006625 |
Adult Oligodendroglioma |
Neoplasms |
| C0279821 |
BXGD006697 |
metastatic pheochromocytoma |
|
| C0279982 |
BXGD006702 |
Childhood Synovial Sarcoma |
Neoplasms |
| C0280100 |
BXGD006713 |
Solid Neoplasm |
Neoplasms |
| C0280216 |
BXGD006719 |
stage, neuroblastoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0280475 |
BXGD006749 |
Childhood Oligodendroglioma |
Neoplasms |
| C0280483 |
BXGD006750 |
Adult Anaplastic Astrocytoma |
Neoplasms |
| C0280781 |
BXGD006758 |
Adult Pilocytic Astrocytoma |
Neoplasms |
| C0280785 |
BXGD006760 |
Diffuse Astrocytoma |
Neoplasms |
| C0280793 |
BXGD006764 |
Mixed Oligodendroglioma-Astrocytoma |
Neoplasms |
| C0282160 |
BXGD006797 |
Aplasia Cutis Congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0311394 |
BXGD006884 |
Difficulty walking |
Pathological Conditions, Signs and Symptoms |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0334254 |
BXGD007010 |
Lymphoepithelial carcinoma |
Neoplasms |
| C0334419 |
BXGD007063 |
Pheochromocytoma, malignant |
Neoplasms; Endocrine System Diseases |
| C0334579 |
BXGD007120 |
Anaplastic astrocytoma |
Neoplasms |
| C0334583 |
BXGD007124 |
Pilocytic Astrocytoma |
Neoplasms |
| C0334586 |
BXGD007126 |
Pleomorphic Xanthoastrocytoma |
Neoplasms |
| C0334588 |
BXGD007128 |
Giant Cell Glioblastoma |
Neoplasms |
| C0342541 |
BXGD007499 |
Precocious pubarche |
Endocrine System Diseases |
| C0344925 |
BXGD007709 |
Perimembranous ventricular septal defect |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0345392 |
BXGD007732 |
Congenital kyphoscoliosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0345904 |
BXGD007745 |
Malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0346300 |
BXGD007806 |
Pituitary carcinoma |
Neoplasms; Nervous System Diseases; Endocrine System Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0349705 |
BXGD007952 |
Abnormal hemoglobin finding |
|
| C0376545 |
BXGD008002 |
Hematologic Neoplasms |
Neoplasms; Hemic and Lymphatic Diseases |
| C0376634 |
BXGD008006 |
Craniofacial Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0399526 |
BXGD008251 |
Class III malocclusion |
Stomatognathic Diseases |
| C0401149 |
BXGD008273 |
Chronic constipation |
Pathological Conditions, Signs and Symptoms |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0423798 |
BXGD008510 |
Increased tendency to bruise |
Wounds and Injuries |
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426429 |
BXGD008564 |
Broad nasal tip |
|
| C0426636 |
BXGD008573 |
Urgent desire for stool |
Digestive System Diseases |
| C0426886 |
BXGD008594 |
Tapering fingers (finding) |
|
| C0431108 |
BXGD008657 |
Anaplastic Oligoastrocytoma |
Neoplasms |
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0431659 |
BXGD008699 |
Hypoplasia of scrotum |
|
| C0431663 |
BXGD008700 |
Bilateral Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0431664 |
BXGD008701 |
Unilateral Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0431692 |
BXGD008703 |
Bilateral renal hypoplasia |
|
| C0431904 |
BXGD008713 |
Ulnar polydactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0473133 |
BXGD008932 |
Protracted diarrhea |
Pathological Conditions, Signs and Symptoms |
| C0475858 |
BXGD008975 |
Generalized pruritus |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0494165 |
BXGD009022 |
Secondary malignant neoplasm of liver |
Digestive System Diseases; Neoplasms |
| C0521158 |
BXGD009130 |
Recurrent tumor |
|
| C0521525 |
BXGD009139 |
Short neck |
|
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0555198 |
BXGD009432 |
Malignant Glioma |
Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575158 |
BXGD009515 |
Kyphoscoliosis deformity of spine |
Musculoskeletal Diseases |
| C0576093 |
BXGD009525 |
Knee joint valgus deformity |
Musculoskeletal Diseases |
| C0585216 |
BXGD009588 |
Alpha-Thalassemia Myelodysplasia Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0596028 |
BXGD009635 |
Overjet, Dental |
Stomatognathic Diseases |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600031 |
BXGD009681 |
Congenital absence of spleen |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases |
| C0600033 |
BXGD009682 |
Acquired Kyphoscoliosis |
Musculoskeletal Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0683322 |
BXGD009782 |
Mental impairment |
|
| C0684337 |
BXGD009796 |
Ewings sarcoma-primitive neuroectodermal tumor (PNET) |
Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0750979 |
BXGD010272 |
Primary malignant neoplasm of brain |
Neoplasms; Nervous System Diseases |
| C0751396 |
BXGD010425 |
Well Differentiated Oligodendroglioma |
Neoplasms |
| C0751606 |
BXGD010523 |
Adult Acute Lymphocytic Leukemia |
|
| C0751690 |
BXGD010553 |
Malignant Peripheral Nerve Sheath Tumor |
Neoplasms; Nervous System Diseases |
| C0796003 |
BXGD010775 |
Juberg-Marsidi syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases |
| C0796159 |
BXGD010806 |
Mental retardation Smith Fineman Myers type |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0796611 |
BXGD010835 |
Newly Diagnosed Childhood Ependymoma |
Neoplasms |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0850715 |
BXGD010907 |
Abnormality of blood and blood-forming tissues |
|
| C0858684 |
BXGD011186 |
Facial telangiectasia |
Cardiovascular Diseases |
| C0877243 |
BXGD011344 |
Increased serum serotonin |
|
| C0973461 |
BXGD011595 |
Dysphasia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1136249 |
BXGD011715 |
Mental Retardation, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1261473 |
BXGD011855 |
Sarcoma |
Neoplasms |
| C1262477 |
BXGD011882 |
Weight decreased |
Pathological Conditions, Signs and Symptoms |
| C1266129 |
BXGD011970 |
Atypical Lipoma |
Neoplasms |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1275078 |
BXGD012055 |
Acrocephalopolysyndactyly type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1328479 |
BXGD012467 |
Pancreatic Endocrine Carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1332183 |
BXGD012496 |
Adult Astrocytic Tumor |
Neoplasms |
| C1332899 |
BXGD012551 |
Cerebellar Glioblastoma |
|
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1332995 |
BXGD012575 |
Childhood Pilocytic Astrocytoma |
Neoplasms |
| C1335110 |
BXGD012761 |
Oligodendroglial Neoplasm |
Neoplasms; Nervous System Diseases |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1337011 |
BXGD012874 |
Well Differentiated Pancreatic Endocrine Tumor |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1456873 |
BXGD013129 |
alpha^+^ Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1519086 |
BXGD013230 |
Pilomyxoid astrocytoma |
Neoplasms |
| C1541567 |
BXGD013353 |
Adult Oligodendroglial Tumor |
|
| C1563730 |
BXGD013394 |
Abdominal Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C1563731 |
BXGD013395 |
Inguinal Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C1578482 |
BXGD013427 |
Valgus deformities of feet |
Musculoskeletal Diseases |
| C1609433 |
BXGD013438 |
Congenital absence of kidneys syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1704327 |
BXGD013546 |
Bone Sarcoma |
Neoplasms; Musculoskeletal Diseases |
| C1708998 |
BXGD013618 |
Metastatic Adrenal Gland Pheochromocytoma |
|
| C1832033 |
BXGD013795 |
Adult Subependymal Giant Cell Astrocytoma |
Neoplasms |
| C1832034 |
BXGD013796 |
Childhood Subependymal Giant Cell Astrocytoma |
Neoplasms |
| C1835762 |
BXGD014046 |
Widely-spaced maxillary central incisors |
|
| C1836189 |
BXGD014091 |
Radial deviation of finger |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836842 |
BXGD014167 |
Psychomotor deterioration |
Mental Disorders |
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1837463 |
BXGD014235 |
Narrow face |
|
| C1837835 |
BXGD014279 |
Bilateral talipes equinovarus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1839727 |
BXGD014395 |
Mental Retardation with Spastic Paraplegia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1839749 |
BXGD014401 |
Paroxysmal bursts of laughter |
|
| C1839758 |
BXGD014402 |
Narrow forehead |
|
| C1839765 |
BXGD014403 |
Triangular nasal tip |
|
| C1839767 |
BXGD014404 |
Tented upper lip vermilion |
|
| C1839783 |
BXGD014407 |
Large forehead |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1842876 |
BXGD014542 |
Depressed nasal ridge |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1844813 |
BXGD014679 |
Widely spaced teeth |
|
| C1845055 |
BXGD014705 |
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases |
| C1845245 |
BXGD014730 |
Lower limb hypertonia |
|
| C1845251 |
BXGD014734 |
Facial hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1845847 |
BXGD014760 |
Coarse facial features |
Pathological Conditions, Signs and Symptoms |
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1846149 |
BXGD014786 |
Intellectual disability, progressive |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1847879 |
BXGD014895 |
X-linked dominant inheritance |
|
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1848977 |
BXGD014992 |
Short upper lip |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1851584 |
BXGD015221 |
Childhood Ependymoma |
Neoplasms |
| C1853241 |
BXGD015321 |
Flat face |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1853246 |
BXGD015323 |
Eversion of lower lip |
|
| C1853487 |
BXGD015340 |
Thick eyebrow |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1855669 |
BXGD015525 |
Absent frontal sinuses |
|
| C1856202 |
BXGD015585 |
U-Shaped upper lip vermilion |
|
| C1856886 |
BXGD015650 |
Hypoplastic philtrum |
|
| C1857276 |
BXGD015688 |
Trichohepatoenteric Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases |
| C1857482 |
BXGD015706 |
Slender finger |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1857790 |
BXGD015748 |
Thoracic scoliosis |
Musculoskeletal Diseases |
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1858430 |
BXGD015792 |
Death in infancy |
|
| C1858539 |
BXGD015803 |
Shawl scrotum |
|
| C1858970 |
BXGD015835 |
Chronic noninfectious lymphadenopathy |
Hemic and Lymphatic Diseases |
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1860834 |
BXGD016006 |
Infantile muscular hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1865916 |
BXGD016355 |
Bilateral ptosis |
Eye Diseases |
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1867441 |
BXGD016455 |
Pterygium Of Conjunctiva And Cornea |
Eye Diseases |
| C1963099 |
BXGD016682 |
Myelodysplasia, CTCAE |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2347761 |
BXGD017049 |
Childhood Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C2673700 |
BXGD017223 |
Brisk reflexes |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2675021 |
BXGD017264 |
Narrow palpebral fissure |
|
| C2713368 |
BXGD017496 |
Hematopoetic Myelodysplasia |
Hemic and Lymphatic Diseases |
| C2745900 |
BXGD017568 |
Promyelocytic leukemia |
|
| C2748518 |
BXGD017593 |
Lumbar scoliosis |
|
| C2873754 |
BXGD017816 |
Severe alpha thalassemia |
|
| C2873755 |
BXGD017817 |
Triple gene defect alpha thalassemia |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C2939447 |
BXGD018179 |
Right ventricular failure |
Cardiovascular Diseases |
| C2985171 |
BXGD018218 |
Glioneuronal Tumor with Neuropil-Like Islands |
Neoplasms |
| C3160712 |
BXGD018467 |
Palpitations, CTCAE |
|
| C3161173 |
BXGD018504 |
Hemoglobin H Constant Spring |
|
| C3161174 |
BXGD018505 |
Hemoglobin H Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C3161175 |
BXGD018506 |
Hydrops fetalis due to alpha thalassemia |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3469521 |
BXGD018910 |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C3553450 |
BXGD019175 |
Profound global developmental delay |
|
| C3640999 |
BXGD019241 |
High Grade Astrocytic Tumor |
Neoplasms |
| C3714753 |
BXGD019428 |
RETINOSCHISIS 1, X-LINKED, JUVENILE |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3808022 |
BXGD019536 |
Episodic abdominal pain |
Pathological Conditions, Signs and Symptoms |
| C3841475 |
BXGD019800 |
beta^+^ Thalassemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C3887612 |
BXGD019905 |
Psychomotor Agitation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C3899645 |
BXGD020087 |
Childhood Pleomorphic Xanthoastrocytoma |
|
| C3899646 |
BXGD020088 |
Childhood Pilomyxoid Astrocytoma |
|
| C3899649 |
BXGD020089 |
Childhood Oligoastrocytoma |
Neoplasms |
| C3899676 |
BXGD020099 |
Childhood Anaplastic Oligoastrocytoma |
|
| C3900098 |
BXGD020106 |
Adult Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C4016452 |
BXGD020338 |
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED |
|
| C4020755 |
BXGD020478 |
Abnormality of fontanelles |
|
| C4021070 |
BXGD020540 |
Absent mastoid |
|
| C4021166 |
BXGD020571 |
Bridged palmar crease |
|
| C4021740 |
BXGD020748 |
Increased circulating ACTH level |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4022543 |
BXGD020911 |
Accessory scrotum |
|
| C4022606 |
BXGD020935 |
Lack of bowel sounds |
|
| C4022909 |
BXGD021035 |
Excessive femoral anteversion |
|
| C4023136 |
BXGD021119 |
Reduced alpha/beta synthesis ratio |
|
| C4023950 |
BXGD021280 |
Enlarged epiphyses of the distal phalanges of the hand |
|
| C4024780 |
BXGD021415 |
Almond-shaped palpebral fissure |
|
| C4025812 |
BXGD021804 |
Dermatological manifestations of systemic disorders |
|
| C4072942 |
BXGD022027 |
Atypical pulmonary carcinoid tumor |
|
| C4082169 |
BXGD022084 |
Metatarsus Varus |
Musculoskeletal Diseases |
| C4086152 |
BXGD022123 |
Childhood Astrocytoma |
Neoplasms |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4476938 |
BXGD022892 |
Impairment of activities of daily living |
|
| C4520843 |
BXGD023043 |
Pterygium of eye |
Eye Diseases |
| C4531035 |
BXGD023181 |
Abnormal pulmonary valve cusp morphology |
|
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4551492 |
BXGD023317 |
Micropenis |
|
| C4551548 |
BXGD023342 |
Grade III Childhood Astrocytoma |
Neoplasms |
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551566 |
BXGD023354 |
Equinovarus deformity of foot |
Musculoskeletal Diseases |
| C4551583 |
BXGD023361 |
Cerebral cortical atrophy |
|
| C4551683 |
BXGD023389 |
Adrenal Gland Pheochromocytoma |
Neoplasms; Endocrine System Diseases |
| C4551686 |
BXGD023391 |
Malignant neoplasm of soft tissue |
Neoplasms |
| C4553743 |
BXGD023548 |
Spasticity, CTCAE |
|
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4725671 |
BXGD023833 |
High-Risk Neuroblastoma |
Neoplasms |