| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0001618 |
BXGD000063 |
Tumors of Adrenal Cortex |
Neoplasms; Endocrine System Diseases |
| C0003492 |
BXGD000198 |
Aortic coarctation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0003504 |
BXGD000202 |
Aortic Valve Insufficiency |
Cardiovascular Diseases |
| C0003578 |
BXGD000211 |
Apnea |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0003962 |
BXGD000244 |
Ascites |
Pathological Conditions, Signs and Symptoms |
| C0004135 |
BXGD000257 |
Ataxia Telangiectasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0005684 |
BXGD000319 |
Malignant neoplasm of urinary bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0005695 |
BXGD000323 |
Bladder Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0007115 |
BXGD000432 |
Malignant neoplasm of thyroid |
Neoplasms; Endocrine System Diseases |
| C0007134 |
BXGD000443 |
Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007138 |
BXGD000446 |
Carcinoma, Transitional Cell |
Neoplasms |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0009241 |
BXGD000595 |
Cognition Disorders |
Mental Disorders |
| C0009324 |
BXGD000597 |
Ulcerative Colitis |
Digestive System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0010038 |
BXGD000643 |
Corneal Opacity |
Eye Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0010964 |
BXGD000692 |
Dandy-Walker Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0017185 |
BXGD001104 |
Gastrointestinal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0018273 |
BXGD001189 |
Growth Disorders |
Pathological Conditions, Signs and Symptoms |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular 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 |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0022680 |
BXGD001576 |
Polycystic Kidney Diseases |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023493 |
BXGD001672 |
Adult T-Cell Lymphoma/Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic 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 |
| C0026010 |
BXGD001886 |
Microphthalmos |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0026850 |
BXGD001942 |
Muscular Dystrophy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026985 |
BXGD001956 |
Myelodysplasia |
|
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027654 |
BXGD002010 |
Embryonal Neoplasm |
Neoplasms |
| C0027658 |
BXGD002011 |
Neoplasms, Germ Cell and Embryonal |
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 |
| C0028754 |
BXGD002082 |
Obesity |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases |
| C0033300 |
BXGD002403 |
Progeria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0035412 |
BXGD002548 |
Rhabdomyosarcoma |
Neoplasms |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038356 |
BXGD002747 |
Stomach Neoplasms |
Digestive System Diseases; Neoplasms |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0042258 |
BXGD002973 |
Vaginal Neoplasms |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0042373 |
BXGD002978 |
Vascular Diseases |
Cardiovascular Diseases |
| C0079541 |
BXGD003081 |
Holoprosencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0079744 |
BXGD003090 |
Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0079924 |
BXGD003103 |
Oligohydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0152018 |
BXGD003518 |
Esophageal carcinoma |
Digestive System Diseases; Neoplasms |
| C0153252 |
BXGD003616 |
Systemic candidiasis |
Infections |
| C0153381 |
BXGD003626 |
Malignant neoplasm of mouth |
Neoplasms; Stomatognathic Diseases |
| C0162532 |
BXGD003951 |
Variegate Porphyria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0178874 |
BXGD004037 |
Tumor Progression |
Pathological Conditions, Signs and Symptoms |
| C0205851 |
BXGD004132 |
Germ cell tumor |
Neoplasms |
| C0205852 |
BXGD004133 |
Neoplasms, Embryonal and Mixed |
Neoplasms |
| C0206656 |
BXGD004219 |
Embryonal Rhabdomyosarcoma |
Neoplasms |
| C0206682 |
BXGD004237 |
Follicular thyroid carcinoma |
Neoplasms |
| C0206728 |
BXGD004273 |
Plexiform Neurofibroma |
Neoplasms; Nervous System Diseases |
| C0220611 |
BXGD004295 |
Childhood Rhabdomyosarcoma |
Neoplasms |
| C0220641 |
BXGD004305 |
Lip and Oral Cavity Carcinoma |
Neoplasms; Stomatognathic Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0231341 |
BXGD004492 |
Premature aging syndrome |
Pathological Conditions, Signs and Symptoms |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0238461 |
BXGD004936 |
Anaplastic thyroid carcinoma |
Neoplasms |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239676 |
BXGD004989 |
High forehead |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0266174 |
BXGD005626 |
Duodenal atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0266470 |
BXGD005678 |
Cerebellar Hypoplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0268800 |
BXGD006041 |
Simple renal cyst |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0278622 |
BXGD006551 |
Adult Malignant Peripheral Nerve Sheath Tumor |
Neoplasms; Nervous System Diseases |
| C0278704 |
BXGD006567 |
Malignant Childhood Neoplasm |
Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279550 |
BXGD006635 |
Adult Rhabdomyosarcoma |
Neoplasms |
| C0279612 |
BXGD006650 |
Childhood Embryonal Rhabdomyosarcoma |
Neoplasms |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0279680 |
BXGD006680 |
Transitional cell carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0279987 |
BXGD006706 |
Childhood Malignant Peripheral Nerve Sheath Tumor |
Neoplasms; Nervous System Diseases |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0280631 |
BXGD006752 |
Leiomyosarcoma of uterus |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0282160 |
BXGD006797 |
Aplasia Cutis Congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0302511 |
BXGD006849 |
Small for gestational age fetus |
Pathological Conditions, Signs and Symptoms |
| C0333875 |
BXGD006972 |
High-Grade Squamous Intraepithelial Lesions |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0340375 |
BXGD007326 |
Subaortic stenosis |
Cardiovascular Diseases |
| C0341787 |
BXGD007422 |
Bifid scrotum |
|
| C0343641 |
BXGD007636 |
Human papilloma virus infection |
Infections |
| 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 |
|
| C0424295 |
BXGD008524 |
Hyperactive behavior |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0426421 |
BXGD008561 |
Wide nose |
|
| C0431478 |
BXGD008692 |
Posteriorly rotated ear |
|
| C0474808 |
BXGD008959 |
Follicular neoplasm |
Neoplasms |
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0494261 |
BXGD009023 |
Combined immunodeficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases |
| C0494475 |
BXGD009030 |
Tonic - clonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0521158 |
BXGD009130 |
Recurrent tumor |
|
| C0521525 |
BXGD009139 |
Short neck |
|
| C0544886 |
BXGD009319 |
Somatic mutation |
|
| C0546837 |
BXGD009343 |
Malignant neoplasm of esophagus |
Digestive System Diseases; Neoplasms |
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575497 |
BXGD009518 |
Short sternum |
|
| 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 |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0685695 |
BXGD009813 |
Abnormal lung lobation |
Respiratory Tract 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 |
| C0699885 |
BXGD009869 |
Carcinoma of bladder |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0740345 |
BXGD009979 |
Germ Cell Cancer |
Neoplasms |
| C0751364 |
BXGD010412 |
Cancer, Embryonal |
Neoplasms |
| C0751365 |
BXGD010413 |
Cancer, Embryonal and Mixed |
Neoplasms |
| C0751690 |
BXGD010553 |
Malignant Peripheral Nerve Sheath Tumor |
Neoplasms; Nervous System Diseases |
| 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 |
| C0872084 |
BXGD011319 |
Sarcopenia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1134719 |
BXGD011688 |
Invasive Ductal Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C1257915 |
BXGD011813 |
Intestinal Polyposis |
Digestive System Diseases |
| C1260926 |
BXGD011844 |
Abnormal pigmentation |
|
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1301194 |
BXGD012284 |
Salivary duct carcinoma |
Neoplasms |
| C1302773 |
BXGD012312 |
Low Grade Squamous Intraepithelial Neoplasia |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1332201 |
BXGD012502 |
Adult Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332206 |
BXGD012504 |
Adult Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1332979 |
BXGD012571 |
Childhood Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1333015 |
BXGD012581 |
Childhood Kidney Wilms Tumor |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1527349 |
BXGD013277 |
Ductal Breast Carcinoma |
Neoplasms |
| C1531647 |
BXGD013301 |
Cerebral ventriculomegaly |
Nervous System Diseases |
| C1567435 |
BXGD013413 |
Polycystic Kidney - body part |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1837397 |
BXGD014227 |
Severe global developmental delay |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1842876 |
BXGD014542 |
Depressed nasal ridge |
|
| C1849341 |
BXGD015040 |
Triangular mouth |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1850343 |
BXGD015131 |
Mosaic variegated aneuploidy syndrome 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1850348 |
BXGD015132 |
Hypodysplasia of the corpus callosum |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1855330 |
BXGD015487 |
Cerebral hypoplasia |
|
| 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 |
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1858120 |
BXGD015774 |
Generalized hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1861866 |
BXGD016087 |
Aplasia/Hypoplasia of the corpus callosum |
|
| C1861975 |
BXGD016095 |
Cafe au lait spots, multiple |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1864389 |
BXGD016226 |
PREMATURE CHROMATID SEPARATION TRAIT |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1956147 |
BXGD016622 |
Microlissencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1961102 |
BXGD016673 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1963099 |
BXGD016682 |
Myelodysplasia, CTCAE |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2145472 |
BXGD016931 |
Urothelial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2930471 |
BXGD017887 |
Bilateral Wilms Tumor |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2931286 |
BXGD017997 |
Warburton Anyane Yeboa syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C2931383 |
BXGD018013 |
Chromosomal mosaicism due to mitotic instability |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C2931822 |
BXGD018068 |
Nasopharyngeal carcinoma |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C2945695 |
BXGD018187 |
Limb ischemia |
|
| C3161330 |
BXGD018511 |
Profound intellectual disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3278923 |
BXGD018748 |
Dilated ventricles (finding) |
|
| C3279222 |
BXGD018751 |
Aplasia/Hypoplasia of the cerebellum |
|
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3714581 |
BXGD019415 |
Multicystic Dysplastic Kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3853041 |
BXGD019819 |
Severe Congenital Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C3887499 |
BXGD019884 |
Renal cyst |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C4021759 |
BXGD020762 |
Generalized myoclonic seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C4021899 |
BXGD020832 |
Premature chromatid separation |
|
| C4023616 |
BXGD021229 |
Abnormality of immune system physiology |
|
| C4023676 |
BXGD021237 |
Increased nuchal translucency |
Pathological Conditions, Signs and Symptoms |
| C4024989 |
BXGD021515 |
Hereditary nonpolyposis colorectal carcinoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases |
| C4025846 |
BXGD021826 |
Abnormality of vision |
|
| C4277690 |
BXGD022377 |
Ciliopathies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4551972 |
BXGD023458 |
Mosaic variegated aneuploidy syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721411 |
BXGD023735 |
Osteolysis |
Musculoskeletal Diseases |
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4733331 |
BXGD023918 |
mosaic variegated aneuploidy |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |