| C0000772 |
BXGD000009 |
Multiple congenital anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0003811 |
BXGD000222 |
Cardiac Arrhythmia |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0003838 |
BXGD000224 |
Arterial Occlusive Diseases |
Cardiovascular Diseases |
| C0003850 |
BXGD000225 |
Arteriosclerosis |
Cardiovascular Diseases |
| C0004114 |
BXGD000255 |
Astrocytoma |
Neoplasms |
| C0004153 |
BXGD000260 |
Atherosclerosis |
Cardiovascular Diseases |
| C0004352 |
BXGD000269 |
Autistic Disorder |
Mental Disorders |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune 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 |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007097 |
BXGD000424 |
Carcinoma |
Neoplasms |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007194 |
BXGD000452 |
Hypertrophic Cardiomyopathy |
Cardiovascular Diseases |
| C0007222 |
BXGD000454 |
Cardiovascular Diseases |
Cardiovascular Diseases |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0009207 |
BXGD000593 |
Cockayne Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases |
| C0009319 |
BXGD000596 |
Colitis |
Digestive System Diseases |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0009404 |
BXGD000606 |
Colorectal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0010051 |
BXGD000646 |
Coronary Aneurysm |
Cardiovascular Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0011881 |
BXGD000760 |
Diabetic Nephropathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0013336 |
BXGD000815 |
Dwarfism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0013362 |
BXGD000817 |
Dysarthria |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0014544 |
BXGD000926 |
Epilepsy |
Nervous System Diseases |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0016049 |
BXGD001039 |
Fibromatosis, Gingival |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0016522 |
BXGD001067 |
Foramen Ovale, Patent |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018784 |
BXGD001220 |
Sensorineural Hearing Loss (disorder) |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018798 |
BXGD001223 |
Congenital Heart Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular 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 |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0019322 |
BXGD001317 |
Umbilical hernia |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0020224 |
BXGD001366 |
Polyhydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular 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 |
| C0023465 |
BXGD001656 |
Acute monocytic leukemia |
Neoplasms |
| C0023467 |
BXGD001658 |
Leukemia, Myelocytic, Acute |
Neoplasms |
| C0023470 |
BXGD001659 |
Myeloid Leukemia |
Neoplasms |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024236 |
BXGD001752 |
Lymphedema |
Hemic and Lymphatic Diseases |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024636 |
BXGD001793 |
Malocclusion |
Stomatognathic Diseases |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0025269 |
BXGD001847 |
Multiple Endocrine Neoplasia Type 2b |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases |
| C0025990 |
BXGD001884 |
Micrognathism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027059 |
BXGD001965 |
Myocarditis |
Cardiovascular Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0027831 |
BXGD002047 |
Neurofibromatosis 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0027960 |
BXGD002062 |
Nevus |
Neoplasms |
| C0027962 |
BXGD002064 |
Melanocytic nevus |
Neoplasms |
| C0028326 |
BXGD002075 |
Noonan Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0030354 |
BXGD002214 |
Papilloma |
Neoplasms |
| C0032580 |
BXGD002362 |
Adenomatous Polyposis Coli |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms |
| C0032897 |
BXGD002378 |
Prader-Willi Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0032914 |
BXGD002379 |
Pre-Eclampsia |
Female Urogenital Diseases and Pregnancy Complications |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0034089 |
BXGD002462 |
Pulmonary Valve Stenosis |
Cardiovascular Diseases |
| C0035334 |
BXGD002539 |
Retinitis Pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0035412 |
BXGD002548 |
Rhabdomyosarcoma |
Neoplasms |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036857 |
BXGD002638 |
Severe intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0037286 |
BXGD002681 |
Skin Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C0037769 |
BXGD002701 |
West Syndrome |
Nervous System Diseases |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0041408 |
BXGD002923 |
Turner Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases |
| C0041409 |
BXGD002924 |
Turner Syndrome, Male |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0079504 |
BXGD003080 |
Hermanski-Pudlak Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases |
| C0079772 |
BXGD003099 |
T-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0085084 |
BXGD003121 |
Motor Neuron Disease |
Nervous System Diseases |
| C0085167 |
BXGD003137 |
Granular cell tumor |
Neoplasms |
| C0085207 |
BXGD003140 |
Gestational Diabetes |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0086132 |
BXGD003264 |
Depressive Symptoms |
Behavior and Behavior Mechanisms |
| C0151786 |
BXGD003475 |
Muscle Weakness |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases |
| C0152013 |
BXGD003516 |
Adenocarcinoma of lung (disorder) |
Neoplasms |
| C0153574 |
BXGD003667 |
Malignant Uterine Corpus Neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0158465 |
BXGD003887 |
Acquired cubitus valgus |
|
| C0158731 |
BXGD003902 |
Congenital pectus carinatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases |
| C0158761 |
BXGD003905 |
Radioulnar Synostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0175691 |
BXGD003999 |
Dubowitz syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0175693 |
BXGD004001 |
Russell-Silver syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0175701 |
BXGD004007 |
Aarskog syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases |
| C0175704 |
BXGD004010 |
LEOPARD Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0175754 |
BXGD004015 |
Agenesis of corpus callosum |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0178664 |
BXGD004032 |
Glomerulosclerosis (disorder) |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases |
| C0178829 |
BXGD004036 |
reproductive system disorder |
Pathological Conditions, Signs and Symptoms |
| C0206620 |
BXGD004187 |
Lymphangioma, Cystic |
Neoplasms |
| C0206656 |
BXGD004219 |
Embryonal Rhabdomyosarcoma |
Neoplasms |
| C0206728 |
BXGD004273 |
Plexiform Neurofibroma |
Neoplasms; Nervous System Diseases |
| C0220611 |
BXGD004295 |
Childhood Rhabdomyosarcoma |
Neoplasms |
| C0220633 |
BXGD004303 |
Uveal melanoma |
Neoplasms; Eye Diseases |
| C0221217 |
BXGD004408 |
Neck webbing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0221263 |
BXGD004427 |
Cafe-au-Lait Spots |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0221355 |
BXGD004447 |
Macrocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0232466 |
BXGD004543 |
Feeding difficulties |
|
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238397 |
BXGD004923 |
Pulmonary artery stenosis |
Cardiovascular Diseases |
| C0239676 |
BXGD004989 |
High forehead |
|
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0243050 |
BXGD005212 |
Cardiovascular Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0263383 |
BXGD005296 |
Keratosis pilaris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0263428 |
BXGD005304 |
Burnett Schwartz Berberian syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0265202 |
BXGD005461 |
Seckel syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0265205 |
BXGD005462 |
Robinow Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases |
| C0265339 |
BXGD005523 |
Borjeson-Forssman-Lehmann syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0270972 |
BXGD006147 |
Cornelia De Lange Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0271561 |
BXGD006213 |
Somatotropin deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0271623 |
BXGD006222 |
Hypogonadotropic hypogonadism |
Endocrine System Diseases |
| C0277959 |
BXGD006487 |
Coarse hair |
|
| C0278704 |
BXGD006567 |
Malignant Childhood Neoplasm |
Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279550 |
BXGD006635 |
Adult Rhabdomyosarcoma |
Neoplasms |
| C0279612 |
BXGD006650 |
Childhood Embryonal Rhabdomyosarcoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0282160 |
BXGD006797 |
Aplasia Cutis Congenita |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0339528 |
BXGD007261 |
X-linked retinitis pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0342513 |
BXGD007494 |
Idiopathic hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0347915 |
BXGD007862 |
Congenital malformation syndromes associated with short stature |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0349639 |
BXGD007943 |
Juvenile Myelomonocytic Leukemia |
Neoplasms; Hemic and Lymphatic Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0376480 |
BXGD007998 |
Gingival Overgrowth |
Stomatognathic Diseases |
| C0393570 |
BXGD008093 |
Corticobasal degeneration |
Nervous System Diseases |
| C0399440 |
BXGD008244 |
Hereditary gingival fibromatosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423112 |
BXGD008472 |
Short palpebral fissure |
|
| C0424492 |
BXGD008531 |
Coarse features |
|
| C0431399 |
BXGD008684 |
Familial aplasia of the vermis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases |
| C0431663 |
BXGD008700 |
Bilateral Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0432333 |
BXGD008778 |
Abnormal dermatoglyphic pattern |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases |
| C0442874 |
BXGD008814 |
Neuropathy |
Nervous System Diseases |
| C0521525 |
BXGD009139 |
Short neck |
|
| C0524851 |
BXGD009246 |
Neurodegenerative Disorders |
Nervous System Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0558165 |
BXGD009449 |
Curly hair (finding) |
|
| C0578626 |
BXGD009551 |
blue iris (physical finding) |
|
| C0587248 |
BXGD009617 |
Costello syndrome (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| 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 |
| C0677607 |
BXGD009721 |
Hashimoto Disease |
Endocrine System Diseases |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0741916 |
BXGD010044 |
Cardiac defects |
|
| C0751606 |
BXGD010523 |
Adult Acute Lymphocytic Leukemia |
|
| C0855740 |
BXGD011086 |
Abnormal platelet function |
|
| C0878544 |
BXGD011368 |
Cardiomyopathies |
Cardiovascular Diseases |
| C0878552 |
BXGD011369 |
Coronary artery ectasia |
|
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1136249 |
BXGD011715 |
Mental Retardation, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1275081 |
BXGD012056 |
Cardio-facio-cutaneous syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases |
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1328504 |
BXGD012469 |
Hormone refractory prostate cancer |
Neoplasms; Male Urogenital Diseases |
| C1328931 |
BXGD012477 |
Multiple lentigines |
|
| 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 |
| C1458140 |
BXGD013134 |
Bleeding tendency |
Hemic and Lymphatic Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1512409 |
BXGD013188 |
Hepatocarcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1519346 |
BXGD013235 |
Skin Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1519666 |
BXGD013240 |
Tumor-Associated Vasculature |
|
| C1527404 |
BXGD013289 |
Female Pseudo-Turner Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1827524 |
BXGD013773 |
Wide spaced nipples |
|
| C1832661 |
BXGD013866 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases |
| C1834120 |
BXGD013955 |
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder) |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases; Cardiovascular Diseases |
| C1835884 |
BXGD014061 |
Triangular face |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836933 |
BXGD014181 |
Low-set nipples |
|
| C1836940 |
BXGD014182 |
Thickened nuchal skin fold |
|
| C1837732 |
BXGD014261 |
Thickened helices |
|
| C1839739 |
BXGD014400 |
Thick lower lip vermilion |
|
| C1839758 |
BXGD014402 |
Narrow forehead |
|
| C1839797 |
BXGD014409 |
Deep philtrum |
|
| C1840077 |
BXGD014434 |
Anteverted nostril |
|
| C1842366 |
BXGD014512 |
Low anterior hairline |
|
| C1843181 |
BXGD014564 |
Noonan syndrome-like disorder with loose anagen hair |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C1845667 |
BXGD014756 |
RETINITIS PIGMENTOSA 3 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C1846821 |
BXGD014841 |
Abnormality of coagulation |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1853120 |
BXGD015303 |
Noonan Syndrome 4 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C1853195 |
BXGD015313 |
Prostate Cancer, Hereditary, 7 |
Neoplasms; Male Urogenital Diseases |
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1853638 |
BXGD015349 |
Broad neck |
|
| C1854114 |
BXGD015383 |
Short nose |
|
| C1855728 |
BXGD015536 |
Low posterior hairline |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857539 |
BXGD015716 |
Deep palmar crease |
|
| C1857953 |
BXGD015759 |
Deep plantar creases |
|
| C1858991 |
BXGD015841 |
Childhood Ataxia with Central Nervous System Hypomyelinization |
Nervous System Diseases |
| C1859807 |
BXGD015932 |
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1860245 |
BXGD015972 |
Cranial asymmetry |
|
| C1860493 |
BXGD015987 |
Abnormality of the sternum |
|
| C1860991 |
BXGD016009 |
NOONAN SYNDROME 3 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C1864796 |
BXGD016251 |
Pectus excavatum of inferior sternum |
|
| C1865017 |
BXGD016283 |
Thin upper lip vermilion |
|
| C1956257 |
BXGD016623 |
Pulmonary Stenosis |
Cardiovascular Diseases |
| C1961099 |
BXGD016672 |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2674608 |
BXGD017250 |
Feeding difficulties in infancy |
|
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C2960129 |
BXGD018198 |
Vanishing white matter disease |
Nervous System Diseases |
| C3164374 |
BXGD018527 |
Abnormality of pulmonary valve |
|
| C3164445 |
BXGD018529 |
Abnormality of aortic valve |
|
| C3276036 |
BXGD018682 |
High anterior hairline |
|
| C3501846 |
BXGD019029 |
Noonan-Like Syndrome With Loose Anagen Hair |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C4020962 |
BXGD020512 |
Enlarged thorax |
|
| C4022662 |
BXGD020948 |
Abnormality of lateral ventricle |
|
| C4023385 |
BXGD021170 |
Aplasia of the semicircular canal |
|
| C4023397 |
BXGD021175 |
Abnormal hair quantity |
|
| C4023676 |
BXGD021237 |
Increased nuchal translucency |
Pathological Conditions, Signs and Symptoms |
| C4023909 |
BXGD021272 |
Aplasia/Hypoplasia of the abdominal wall musculature |
|
| C4024165 |
BXGD021293 |
Prominent ear helix |
|
| C4025749 |
BXGD021773 |
Abnormality of the spleen |
|
| C4025871 |
BXGD021839 |
Abnormality of the face |
|
| C4049446 |
BXGD021933 |
Neointimal hyperplasia |
|
| C4049650 |
BXGD021946 |
Familial Glucocorticoid Deficiency Type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C4086152 |
BXGD022123 |
Childhood Astrocytoma |
Neoplasms |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4282407 |
BXGD022423 |
Sparse and thin eyebrow |
|
| C4551472 |
BXGD023303 |
Hypertrophic obstructive cardiomyopathy |
Cardiovascular Diseases |
| C4551558 |
BXGD023348 |
Fibromatosis, Gingival, Type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C4551602 |
BXGD023369 |
Noonan Syndrome 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4743661 |
BXGD023935 |
Leukocyte Adhesion Deficiency Type 3 |
|