| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0002170 |
BXGD000105 |
Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0003130 |
BXGD000183 |
Anoxia |
Pathological Conditions, Signs and Symptoms |
| C0004134 |
BXGD000256 |
Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007758 |
BXGD000475 |
Cerebellar Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0008924 |
BXGD000574 |
Cleft upper lip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009081 |
BXGD000581 |
Congenital clubfoot |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011860 |
BXGD000755 |
Diabetes Mellitus, Non-Insulin-Dependent |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013395 |
BXGD000831 |
Dyspepsia |
Pathological Conditions, Signs and Symptoms |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| 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 |
| C0017168 |
BXGD001101 |
Gastroesophageal reflux disease |
Digestive System Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018818 |
BXGD001236 |
Ventricular Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0018916 |
BXGD001245 |
Hemangioma |
Neoplasms |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020608 |
BXGD001443 |
Hypodontia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0021051 |
BXGD001475 |
Immunologic Deficiency Syndromes |
Immune System Diseases |
| C0022821 |
BXGD001590 |
Kyphosis deformity of spine |
Musculoskeletal Diseases |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; 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 |
| C0026650 |
BXGD001913 |
Movement Disorders |
Nervous System Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029463 |
BXGD002160 |
Osteosarcoma |
Neoplasms |
| 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 |
| C0034013 |
BXGD002450 |
Precocious Puberty |
Endocrine System Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal 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 |
| C0038271 |
BXGD002742 |
Stereotyped Behavior |
Behavior and Behavior Mechanisms |
| C0038273 |
BXGD002743 |
Stereotypic Movement Disorder |
Mental Disorders |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0079731 |
BXGD003087 |
B-Cell Lymphomas |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0151611 |
BXGD003447 |
Electroencephalogram abnormal |
Nervous System Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0152171 |
BXGD003552 |
Idiopathic pulmonary hypertension |
Respiratory Tract Diseases; Cardiovascular Diseases |
| C0153676 |
BXGD003679 |
Secondary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0158761 |
BXGD003905 |
Radioulnar Synostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0239676 |
BXGD004989 |
High forehead |
|
| C0240538 |
BXGD005041 |
Convex nasal ridge |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0265341 |
BXGD005524 |
Rieger syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0265695 |
BXGD005566 |
Congenital fusion of ribs |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266610 |
BXGD005699 |
Preauricular dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0266631 |
BXGD005703 |
Accessory spleen |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0278488 |
BXGD006515 |
Carcinoma breast stage IV |
|
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0280100 |
BXGD006713 |
Solid Neoplasm |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0302511 |
BXGD006849 |
Small for gestational age fetus |
Pathological Conditions, Signs and Symptoms |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0392156 |
BXGD008029 |
Akathisia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms |
| C0395837 |
BXGD008169 |
Stenosis of external auditory canal |
|
| C0423224 |
BXGD008475 |
Sunken eyes |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0431371 |
BXGD008676 |
Absence of septum pellucidum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0520947 |
BXGD009126 |
Clumsiness - motor delay |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0524620 |
BXGD009236 |
Metabolic Syndrome X |
Nutritional and Metabolic Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0585442 |
BXGD009593 |
Osteosarcoma of bone |
Neoplasms |
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0598766 |
BXGD009669 |
Leukemogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital 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 |
| C0751837 |
BXGD010604 |
Gait Ataxia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0796117 |
BXGD010798 |
Pitt-Rogers-Danks Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0936223 |
BXGD011477 |
Metastatic Prostate Carcinoma |
Neoplasms; Male Urogenital Diseases |
| C1134719 |
BXGD011688 |
Invasive Ductal Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1271219 |
BXGD012008 |
Congenital ectopic pupil |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C1282496 |
BXGD012147 |
Metastasis from malignant tumor of prostate |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1332986 |
BXGD012574 |
Childhood Osteosarcoma |
Neoplasms |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1837108 |
BXGD014199 |
Decreased muscle mass |
|
| C1839326 |
BXGD014367 |
Abnormal form of the vertebral bodies |
|
| C1839858 |
BXGD014418 |
Periventricular cysts |
|
| C1840380 |
BXGD014460 |
Persistent cavum septum pellucidum |
|
| C1844825 |
BXGD014683 |
Hyperconvex fingernails |
|
| C1848977 |
BXGD014992 |
Short upper lip |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1853237 |
BXGD015319 |
Isolated cases |
|
| C1854301 |
BXGD015391 |
Motor delay |
Mental Disorders |
| C1855728 |
BXGD015536 |
Low posterior hairline |
|
| C1857641 |
BXGD015727 |
Severe postnatal growth retardation |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1860243 |
BXGD015970 |
Abnormal sternal ossification |
|
| C1860244 |
BXGD015971 |
Malrotation of small bowel |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C1860247 |
BXGD015973 |
Prominent glabella |
|
| C1860253 |
BXGD015974 |
Pseudoepiphyses of the metacarpals |
|
| C1860816 |
BXGD016001 |
Preauricular skin tag |
|
| C1861324 |
BXGD016029 |
Short philtrum |
|
| C1866195 |
BXGD016385 |
Downturned corners of mouth |
|
| C1868571 |
BXGD016508 |
Highly arched eyebrow |
|
| C1956097 |
BXGD016617 |
Wolf-Hirschhorn Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1968999 |
BXGD016747 |
Rib segmentation abnormalities |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3278509 |
BXGD018742 |
Spinal fusion |
|
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| 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 |
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3495489 |
BXGD018988 |
Rieger eye malformation sequence |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C3714514 |
BXGD019409 |
Infection |
Infections |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C4025320 |
BXGD021643 |
Craniofacial asymmetry |
Pathological Conditions, Signs and Symptoms |
| C4082169 |
BXGD022084 |
Metatarsus Varus |
Musculoskeletal Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4693578 |
BXGD023606 |
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME |
|
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|