| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0010278 |
BXGD000660 |
Craniosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010606 |
BXGD000677 |
Adenoid Cystic Carcinoma |
Neoplasms |
| C0012236 |
BXGD000772 |
DiGeorge Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular 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 |
| C0013421 |
BXGD000837 |
Dystonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| 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 |
| C0018916 |
BXGD001245 |
Hemangioma |
Neoplasms |
| C0020295 |
BXGD001372 |
Hydronephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023449 |
BXGD001650 |
Acute lymphocytic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023464 |
BXGD001655 |
Acute biphenotypic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023465 |
BXGD001656 |
Acute monocytic leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023479 |
BXGD001663 |
Acute myelomonocytic leukemia |
Neoplasms |
| C0023524 |
BXGD001681 |
Leukoencephalopathy, Progressive Multifocal |
Infections; Nervous System Diseases |
| C0023530 |
BXGD001683 |
Leukopenia |
Hemic and Lymphatic Diseases |
| C0023904 |
BXGD001721 |
Liver Neoplasms, Experimental |
Digestive System Diseases; Neoplasms |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; 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 |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027947 |
BXGD002061 |
Neutropenia |
Hemic and Lymphatic Diseases |
| C0029124 |
BXGD002113 |
Optic Atrophy |
Eye Diseases; Nervous System Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0035220 |
BXGD002512 |
Respiratory Distress Syndrome, Newborn |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract 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 |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0085669 |
BXGD003233 |
Acute leukemia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0162871 |
BXGD003996 |
Aortic Aneurysm, Abdominal |
Cardiovascular Diseases |
| C0205833 |
BXGD004130 |
Medullomyoblastoma |
Neoplasms |
| C0220615 |
BXGD004298 |
Adult Acute Myeloblastic Leukemia |
Neoplasms |
| C0220621 |
BXGD004300 |
Childhood Acute Myeloid Leukemia |
Neoplasms |
| C0221170 |
BXGD004400 |
Muscular stiffness |
Nervous System Diseases |
| C0221210 |
BXGD004406 |
Congenital malrotation of intestine |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0238300 |
BXGD004908 |
Stenosis of nasolacrimal duct |
|
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240543 |
BXGD005042 |
Bulbous nose |
|
| C0242596 |
BXGD005181 |
Neoplasm, Residual |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0262444 |
BXGD005244 |
Abnormality of the dentition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0264303 |
BXGD005379 |
Laryngomalacia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0265529 |
BXGD005542 |
Plagiocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266011 |
BXGD005605 |
Accessory nipple |
Skin and Connective Tissue Diseases |
| C0266610 |
BXGD005699 |
Preauricular dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0279627 |
BXGD006658 |
Adult Acute Myelomonocytic Leukemia |
Neoplasms |
| C0279644 |
BXGD006668 |
Childhood Acute Myelomonocytic Leukemia |
Neoplasms |
| C0279646 |
BXGD006670 |
Childhood Acute Monocytic Leukemia |
Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0280634 |
BXGD006753 |
Adult Acute Monocytic Leukemia |
Neoplasms |
| C0302486 |
BXGD006847 |
Erythrophagocytosis |
|
| C0340970 |
BXGD007379 |
Congenital neutropenia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0345905 |
BXGD007746 |
Intrahepatic Cholangiocarcinoma |
Neoplasms |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0424503 |
BXGD008532 |
Dysmorphic facies |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0426429 |
BXGD008564 |
Broad nasal tip |
|
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0476273 |
BXGD008986 |
Respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598894 |
BXGD009673 |
Monocytic leukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0751291 |
BXGD010379 |
Desmoplastic Medulloblastoma |
Neoplasms |
| C0876991 |
BXGD011323 |
Histiocytosis haematophagic |
|
| C0948976 |
BXGD011566 |
Leukemic infiltration of skin |
Neoplasms; Skin and Connective Tissue Diseases |
| C1261473 |
BXGD011855 |
Sarcoma |
Neoplasms |
| C1275668 |
BXGD012090 |
Melanotic medulloblastoma |
Neoplasms |
| C1292780 |
BXGD012239 |
Therapy-related myelodysplastic syndrome |
Hemic and Lymphatic Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1318544 |
BXGD012401 |
M5b Acute differentiated monocytic leukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C1332206 |
BXGD012504 |
Adult Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| C1332979 |
BXGD012571 |
Childhood Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1336735 |
BXGD012856 |
Treatment related acute myeloid leukaemia |
|
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1535926 |
BXGD013322 |
Neurodevelopmental Disorders |
Mental Disorders |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1839546 |
BXGD014385 |
Microretrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C1839758 |
BXGD014402 |
Narrow forehead |
|
| C1843367 |
BXGD014576 |
Poor school performance |
|
| C1848207 |
BXGD014916 |
Poor speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853118 |
BXGD015302 |
Severe congenital neutropenia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C1854113 |
BXGD015382 |
Prominent nasal bridge |
|
| C1854882 |
BXGD015439 |
Absent speech |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1856786 |
BXGD015645 |
Hypoplastic fingernail |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1866195 |
BXGD016385 |
Downturned corners of mouth |
|
| C1961102 |
BXGD016673 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2826025 |
BXGD017783 |
Mixed phenotype acute leukemia |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3810365 |
BXGD019652 |
Central visual impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C3831784 |
BXGD019755 |
Acute monocytic/monoblastic leukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C3887980 |
BXGD019937 |
Protanomaly |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4021866 |
BXGD020823 |
obsolete Abnormal heart morphology |
|
| C4048268 |
BXGD021896 |
Cortical visual impairment |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C4225396 |
BXGD022259 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 |
|
| C4281993 |
BXGD022418 |
Neonatal respiratory distress |
Respiratory Tract Diseases |
| C4284013 |
BXGD022428 |
Primary cholangiocarcinoma of intrahepatic biliary tract |
Neoplasms |
| C4511003 |
BXGD022993 |
Acute myeloid leukemia with t(8;16)(p11;p13) translocation |
|
| C4551563 |
BXGD023351 |
Microcephaly (physical finding) |
|
| C4551686 |
BXGD023391 |
Malignant neoplasm of soft tissue |
Neoplasms |