| C0000737 |
BXGD000005 |
Abdominal Pain |
Pathological Conditions, Signs and Symptoms |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0002874 |
BXGD000134 |
Aplastic Anemia |
Hemic and Lymphatic Diseases |
| C0003123 |
BXGD000178 |
Anorexia |
Pathological Conditions, Signs and Symptoms |
| C0003466 |
BXGD000193 |
Anus, Imperforate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0003857 |
BXGD000228 |
Congenital arteriovenous malformation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0004106 |
BXGD000254 |
Astigmatism |
Eye Diseases |
| C0004509 |
BXGD000275 |
Azoospermia |
Male Urogenital Diseases |
| C0004604 |
BXGD000278 |
Back Pain |
Pathological Conditions, Signs and Symptoms |
| C0004903 |
BXGD000293 |
Beckwith-Wiedemann Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0005398 |
BXGD000311 |
Cholestasis, Extrahepatic |
Digestive System Diseases |
| C0005586 |
BXGD000315 |
Bipolar Disorder |
Mental Disorders |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006145 |
BXGD000376 |
Breast Diseases |
Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007104 |
BXGD000427 |
Female Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007112 |
BXGD000429 |
Adenocarcinoma of prostate |
Neoplasms; Male Urogenital Diseases |
| C0007124 |
BXGD000437 |
Noninfiltrating Intraductal Carcinoma |
Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0008297 |
BXGD000522 |
Choanal Atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009405 |
BXGD000607 |
Hereditary Nonpolyposis Colorectal Neoplasms |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases |
| C0009946 |
BXGD000638 |
Conversion disorder |
Mental Disorders |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013274 |
BXGD000809 |
Patent ductus arteriosus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0015625 |
BXGD001006 |
Fanconi Anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic 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 |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018923 |
BXGD001248 |
Hemangiosarcoma |
Neoplasms |
| C0019214 |
BXGD001307 |
Hepatosplenomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases |
| C0019569 |
BXGD001337 |
Hirschsprung Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0021847 |
BXGD001523 |
Intestinal Pseudo-Obstruction |
Digestive System Diseases |
| C0022346 |
BXGD001537 |
Icterus |
Pathological Conditions, Signs and Symptoms |
| C0023465 |
BXGD001656 |
Acute monocytic leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023530 |
BXGD001683 |
Leukopenia |
Hemic and Lymphatic Diseases |
| C0023903 |
BXGD001720 |
Liver neoplasms |
Digestive System Diseases; Neoplasms |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025037 |
BXGD001822 |
Meckel Diverticulum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| 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 |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026985 |
BXGD001956 |
Myelodysplasia |
|
| C0027439 |
BXGD001990 |
Nasopharyngeal Neoplasms |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0027498 |
BXGD001994 |
Nausea and vomiting |
Pathological Conditions, Signs and Symptoms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027672 |
BXGD002020 |
Neoplastic Syndromes, Hereditary |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C0027708 |
BXGD002025 |
Nephroblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029925 |
BXGD002181 |
Ovarian Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0030297 |
BXGD002204 |
Pancreatic Neoplasm |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0030312 |
BXGD002207 |
Pancytopenia |
Hemic and Lymphatic Diseases |
| C0032580 |
BXGD002362 |
Adenomatous Polyposis Coli |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms |
| C0033036 |
BXGD002389 |
Atrial Premature Complexes |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0034902 |
BXGD002494 |
Pure Red-Cell Aplasia |
Hemic and Lymphatic Diseases |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0039075 |
BXGD002788 |
Syndactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0039685 |
BXGD002825 |
Tetralogy of Fallot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0040034 |
BXGD002836 |
Thrombocytopenia |
Hemic and Lymphatic Diseases |
| C0040588 |
BXGD002879 |
Tracheoesophageal Fistula |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases |
| C0079924 |
BXGD003103 |
Oligohydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0080178 |
BXGD003107 |
Spina Bifida |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151311 |
BXGD003412 |
Cranial nerve palsies |
Nervous System Diseases |
| C0151640 |
BXGD003453 |
Decreased fertility in males |
Male Urogenital Diseases |
| C0151889 |
BXGD003498 |
Hyperreflexia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0206754 |
BXGD004289 |
Neuroendocrine Tumors |
Neoplasms |
| C0221263 |
BXGD004427 |
Cafe-au-Lait Spots |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0221352 |
BXGD004444 |
Syndactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
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 |
| C0235653 |
BXGD004762 |
Malignant neoplasm of female breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238033 |
BXGD004861 |
Carcinoma of Male Breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0238093 |
BXGD004872 |
Stenosis of duodenum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0239181 |
BXGD004970 |
Intermittent diarrhea |
Pathological Conditions, Signs and Symptoms |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241397 |
BXGD005095 |
Triphalangeal thumb |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0242787 |
BXGD005195 |
Malignant neoplasm of male breast |
Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases |
| C0262655 |
BXGD005264 |
Recurrent urinary tract infection |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0265219 |
BXGD005468 |
Miller Dieker syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0265660 |
BXGD005561 |
Syndactyly of the toes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266190 |
BXGD005628 |
Congenital atresia of colon |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0266387 |
BXGD005661 |
Bicornuate uterus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0266589 |
BXGD005698 |
Congenital ear anomaly NOS (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases |
| C0267756 |
BXGD005770 |
Abscess of peritoneum |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections |
| C0267963 |
BXGD005796 |
Exocrine pancreatic insufficiency |
Digestive System Diseases |
| C0272027 |
BXGD006296 |
Pyridoxine-responsive sideroblastic anemia |
Hemic and Lymphatic Diseases |
| C0278488 |
BXGD006515 |
Carcinoma breast stage IV |
|
| C0278701 |
BXGD006566 |
Gastric Adenocarcinoma |
Digestive System Diseases; Neoplasms |
| C0278704 |
BXGD006567 |
Malignant Childhood Neoplasm |
Neoplasms |
| C0278996 |
BXGD006621 |
Malignant Head and Neck Neoplasm |
Neoplasms |
| C0281267 |
BXGD006770 |
bilateral breast cancer |
Neoplasms; Skin and Connective Tissue Diseases |
| C0281361 |
BXGD006774 |
Adenocarcinoma of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0281842 |
BXGD006787 |
Abnormality of the fallopian tube |
|
| C0342526 |
BXGD007495 |
Absent testes |
|
| C0346153 |
BXGD007781 |
Breast Cancer, Familial |
Neoplasms; Skin and Connective Tissue Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423112 |
BXGD008472 |
Short palpebral fissure |
|
| C0431890 |
BXGD008712 |
Hypoplasia of thumb |
Musculoskeletal Diseases |
| C0456132 |
BXGD008869 |
Large fontanelle |
|
| C0496956 |
BXGD009052 |
Neoplasm of uncertain or unknown behavior of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0497156 |
BXGD009053 |
Lymphadenopathy |
Hemic and Lymphatic Diseases |
| C0518656 |
BXGD009071 |
Chronic fatigue |
Pathological Conditions, Signs and Symptoms |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0521620 |
BXGD009150 |
Dilatation of ureter |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0542518 |
BXGD009278 |
Enlarged kidney |
|
| C0544886 |
BXGD009319 |
Somatic mutation |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0677776 |
BXGD009728 |
Hereditary Breast and Ovarian Cancer Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases |
| C0677861 |
BXGD009731 |
Bilateral Malignant Neoplasm |
Neoplasms |
| C0677886 |
BXGD009734 |
Epithelial ovarian cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0853879 |
BXGD010982 |
Invasive carcinoma of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0858252 |
BXGD011172 |
Breast adenocarcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0860580 |
BXGD011232 |
Medullary carcinoma of breast |
|
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0936223 |
BXGD011477 |
Metastatic Prostate Carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0948303 |
BXGD011526 |
Carcinoma of peritoneum |
|
| C1096616 |
BXGD011635 |
Contralateral breast cancer |
|
| C1112155 |
BXGD011647 |
Hereditary non-polyposis colorectal cancer syndrome |
|
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1257931 |
BXGD011815 |
Mammary Neoplasms, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C1262477 |
BXGD011882 |
Weight decreased |
Pathological Conditions, Signs and Symptoms |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1282496 |
BXGD012147 |
Metastasis from malignant tumor of prostate |
|
| C1297882 |
BXGD012244 |
Partial Trisomy |
Pathological Conditions, Signs and Symptoms |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1306710 |
BXGD012372 |
Facial asymmetry |
Pathological Conditions, Signs and Symptoms |
| C1319315 |
BXGD012415 |
Adenocarcinoma of large intestine |
Digestive System Diseases; Neoplasms |
| C1332206 |
BXGD012504 |
Adult Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332262 |
BXGD012518 |
Anal canal squamous cell carcinoma |
Digestive System Diseases; Neoplasms |
| C1332549 |
BXGD012531 |
Bilateral Carcinoma |
Neoplasms |
| C1332979 |
BXGD012571 |
Childhood Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1333600 |
BXGD012636 |
Hereditary Malignant Neoplasm |
Neoplasms |
| C1333990 |
BXGD012670 |
Hereditary Nonpolyposis Colorectal Cancer |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases |
| C1333991 |
BXGD012671 |
Hereditary Non-Polyposis Colon Cancer Type 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C1335302 |
BXGD012775 |
Pancreatic Ductal Adenocarcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C1336076 |
BXGD012828 |
Sporadic Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1387925 |
BXGD012959 |
Abnormality of limbs |
|
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1512419 |
BXGD013189 |
Hereditary Melanoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases |
| C1512981 |
BXGD013196 |
Mammary Tumorigenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1514428 |
BXGD013203 |
Primary peritoneal carcinoma |
Digestive System Diseases; Neoplasms |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1691215 |
BXGD013491 |
Penile hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1708349 |
BXGD013597 |
Hereditary Diffuse Gastric Cancer |
Digestive System Diseases; Neoplasms |
| C1710547 |
BXGD013643 |
Unilateral Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1835817 |
BXGD014054 |
FANCONI ANEMIA, COMPLEMENTATION GROUP N |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C1836735 |
BXGD014155 |
hypopigmented skin patch |
Skin and Connective Tissue Diseases |
| C1842408 |
BXGD014518 |
increased risk of pancreatic cancer |
Neoplasms |
| C1846460 |
BXGD014820 |
Abnormality of the outer ear |
|
| C1848701 |
BXGD014967 |
Elevated hepatic transaminase |
|
| C1849923 |
BXGD015088 |
Generalized hypopigmentation |
Skin and Connective Tissue Diseases |
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1855710 |
BXGD015534 |
Bone marrow hypocellularity |
|
| C1857453 |
BXGD015703 |
Renal hypoplasia/aplasia |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1859461 |
BXGD015895 |
Femoral bowing |
Musculoskeletal Diseases |
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1860236 |
BXGD015969 |
Irregular hyperpigmentation |
Skin and Connective Tissue Diseases |
| C1860614 |
BXGD015992 |
ULNAR HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1861028 |
BXGD016010 |
Esophageal atresia with or without tracheoesophageal fistula |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C1861975 |
BXGD016095 |
Cafe au lait spots, multiple |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1963099 |
BXGD016682 |
Myelodysplasia, CTCAE |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1969879 |
BXGD016799 |
Limb joint contracture |
|
| C2674432 |
BXGD017246 |
Reduced bone mineral density |
|
| C2749463 |
BXGD017620 |
Aplasia/Hypoplasia of the radius |
|
| C2827980 |
BXGD017800 |
Stage IA Breast Cancer AJCC v7 |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2931038 |
BXGD017944 |
Pancreatic carcinoma, familial |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C2931456 |
BXGD018024 |
Prostate cancer, familial |
Neoplasms; Male Urogenital Diseases |
| C2936783 |
BXGD018136 |
Colorectal cancer, hereditary nonpolyposis, type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases |
| C2981150 |
BXGD018211 |
Uranostaphyloschisis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C3150547 |
BXGD018310 |
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 |
|
| C3164445 |
BXGD018529 |
Abnormality of aortic valve |
|
| C3266262 |
BXGD018600 |
Multiple Chronic Conditions |
Pathological Conditions, Signs and Symptoms |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3280492 |
BXGD018831 |
TUMOR PREDISPOSITION SYNDROME |
|
| 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 |
| C3469522 |
BXGD018911 |
BREAST CANCER, SUSCEPTIBILITY TO |
|
| C3495917 |
BXGD019012 |
Advanced breast cancer |
|
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3639956 |
BXGD019238 |
Functional intestinal obstruction |
Digestive System Diseases |
| C3665347 |
BXGD019279 |
Visual Impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3887461 |
BXGD019876 |
Head and Neck Carcinoma |
Neoplasms |
| C3887489 |
BXGD019879 |
Clubbing of toes |
|
| C4018978 |
BXGD020464 |
Unilateral Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C4020968 |
BXGD020516 |
Abnormal localization of kidney |
|
| C4021085 |
BXGD020544 |
Abnormality of brain morphology |
|
| C4021737 |
BXGD020745 |
Chromosomal breakage induced by crosslinking agents |
Pathological Conditions, Signs and Symptoms |
| C4021750 |
BXGD020755 |
Abnormality of femur morphology |
|
| C4021780 |
BXGD020775 |
Abnormality of the liver |
|
| C4022016 |
BXGD020871 |
Abnormality of the preputium |
|
| C4023917 |
BXGD021276 |
Aplasia/Hypoplasia of the uvula |
|
| C4024748 |
BXGD021402 |
Aplasia/Hypoplasia of the iris |
|
| C4024780 |
BXGD021415 |
Almond-shaped palpebral fissure |
|
| C4025071 |
BXGD021541 |
Aplasia/Hypoplasia of fingers |
|
| C4025211 |
BXGD021592 |
Abnormal carotid artery morphology |
|
| C4025756 |
BXGD021778 |
Abnormal aortic morphology |
|
| C4025819 |
BXGD021808 |
Abnormality of the hypothalamus-pituitary axis |
|
| C4025871 |
BXGD021839 |
Abnormality of the face |
|
| C4228778 |
BXGD022292 |
Abnormality of radial ray |
|
| C4305467 |
BXGD022591 |
Neuroendocrine tumor of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C4520898 |
BXGD023047 |
Stage IV Breast Cancer AJCC v6 and v7 |
|
| C4528552 |
BXGD023162 |
Anatomic Stage IA Breast Cancer AJCC v8 |
|
| C4528561 |
BXGD023167 |
Anatomic Stage IV Breast Cancer AJCC v8 |
|
| C4528572 |
BXGD023169 |
Prognostic Stage IA Breast Cancer AJCC v8 |
|
| C4528592 |
BXGD023175 |
Prognostic Stage IV Breast Cancer AJCC v8 |
|
| C4551489 |
BXGD023315 |
Ureter duplex |
|
| C4551705 |
BXGD023397 |
Abnormality of chromosome stability |
|
| C4552100 |
BXGD023488 |
Lynch Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4704874 |
BXGD023682 |
Mammary Carcinoma, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4721806 |
BXGD023772 |
Carcinoma, Basal Cell |
Neoplasms |
| C4721859 |
BXGD023779 |
Hereditary Diffuse Gastric Adenocarcinoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms |
| C4722328 |
BXGD023800 |
Hereditary Prostate Carcinoma |
Neoplasms; Male Urogenital Diseases |
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C4724023 |
BXGD023811 |
stage IA breast cancer |
|