| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0001486 |
BXGD000056 |
Adenovirus Infections |
Infections |
| C0001815 |
BXGD000078 |
Primary Myelofibrosis |
Hemic and Lymphatic Diseases |
| C0001857 |
BXGD000085 |
AIDS related complex |
Infections; Immune System Diseases |
| C0002170 |
BXGD000105 |
Alopecia |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0002453 |
BXGD000117 |
Amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0002726 |
BXGD000125 |
Amyloidosis |
Nutritional and Metabolic Diseases |
| C0002736 |
BXGD000127 |
Amyotrophic Lateral Sclerosis |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C0002871 |
BXGD000132 |
Anemia |
Hemic and Lymphatic Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004135 |
BXGD000257 |
Ataxia Telangiectasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0004368 |
BXGD000271 |
Autoimmune state |
|
| C0004943 |
BXGD000297 |
Behcet Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases |
| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0005859 |
BXGD000342 |
Bloom Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases |
| C0006118 |
BXGD000372 |
Brain Neoplasms |
Neoplasms; Nervous System Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006413 |
BXGD000397 |
Burkitt Lymphoma |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007102 |
BXGD000425 |
Malignant tumor of colon |
Digestive System Diseases; Neoplasms |
| C0007115 |
BXGD000432 |
Malignant neoplasm of thyroid |
Neoplasms; Endocrine System Diseases |
| C0007131 |
BXGD000441 |
Non-Small Cell Lung Carcinoma |
Neoplasms; Respiratory Tract Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007785 |
BXGD000485 |
Cerebral Infarction |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0008626 |
BXGD000559 |
Congenital chromosomal disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| 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 |
| C0011606 |
BXGD000735 |
Exfoliative dermatitis |
Skin and Connective Tissue Diseases |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic 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 |
| C0013595 |
BXGD000858 |
Eczema |
Skin and Connective Tissue Diseases |
| C0013604 |
BXGD000859 |
Edema |
Pathological Conditions, Signs and Symptoms |
| C0014038 |
BXGD000878 |
Encephalitis |
Nervous System Diseases |
| C0014378 |
BXGD000912 |
Enterovirus Infections |
Infections |
| C0014457 |
BXGD000915 |
Eosinophilia |
Hemic and Lymphatic Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0015967 |
BXGD001030 |
Fever |
Pathological Conditions, Signs and Symptoms |
| C0016842 |
BXGD001083 |
Congenital pectus excavatum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0019209 |
BXGD001305 |
Hepatomegaly |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020295 |
BXGD001372 |
Hydronephrosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020626 |
BXGD001452 |
Hypoparathyroidism |
Endocrine System Diseases |
| C0020676 |
BXGD001462 |
Hypothyroidism |
Endocrine System Diseases |
| C0021364 |
BXGD001500 |
Male infertility |
Male Urogenital Diseases |
| C0022602 |
BXGD001564 |
Actinic keratosis |
Neoplasms; Skin and Connective Tissue Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023418 |
BXGD001642 |
leukemia |
Neoplasms |
| C0023434 |
BXGD001643 |
Chronic Lymphocytic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023449 |
BXGD001650 |
Acute lymphocytic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0023474 |
BXGD001662 |
Leukemia, Myeloid, Chronic-Phase |
Neoplasms; Hemic and Lymphatic Diseases |
| C0023518 |
BXGD001677 |
Leukocytosis |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases |
| C0023532 |
BXGD001685 |
Leukoplakia, Oral |
Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases |
| C0023890 |
BXGD001713 |
Liver Cirrhosis |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0024299 |
BXGD001758 |
Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024312 |
BXGD001766 |
Lymphopenia |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024314 |
BXGD001767 |
Lymphoproliferative Disorders |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0024433 |
BXGD001771 |
Macrostomia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0024523 |
BXGD001781 |
Malabsorption Syndrome |
Digestive System Diseases; Nutritional and Metabolic 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 |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0026985 |
BXGD001956 |
Myelodysplasia |
|
| C0027092 |
BXGD001971 |
Myopia |
Eye Diseases |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027726 |
BXGD002030 |
Nephrotic Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027765 |
BXGD002033 |
nervous system disorder |
Nervous System Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0028738 |
BXGD002081 |
Nystagmus |
Eye Diseases; Nervous System Diseases |
| C0029408 |
BXGD002137 |
Degenerative polyarthritis |
Musculoskeletal Diseases |
| C0030312 |
BXGD002207 |
Pancytopenia |
Hemic and Lymphatic Diseases |
| C0030489 |
BXGD002230 |
Paraproteinemias |
Immune System Diseases; Hemic and Lymphatic Diseases |
| C0030567 |
BXGD002240 |
Parkinson Disease |
Nervous System Diseases |
| C0032285 |
BXGD002344 |
Pneumonia |
Infections; Respiratory Tract Diseases |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0033774 |
BXGD002419 |
Pruritus |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0034888 |
BXGD002492 |
Rectal Prolapse |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0035229 |
BXGD002516 |
Respiratory Insufficiency |
Respiratory Tract Diseases |
| C0035335 |
BXGD002540 |
Retinoblastoma |
Neoplasms; Eye Diseases |
| C0036220 |
BXGD002587 |
Kaposi Sarcoma |
Neoplasms; Infections |
| C0036341 |
BXGD002600 |
Schizophrenia |
Mental Disorders |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0038002 |
BXGD002723 |
Splenomegaly |
Pathological Conditions, Signs and Symptoms |
| C0038379 |
BXGD002752 |
Strabismus |
Eye Diseases; Nervous System Diseases |
| C0040034 |
BXGD002836 |
Thrombocytopenia |
Hemic and Lymphatic Diseases |
| C0040136 |
BXGD002845 |
Thyroid Neoplasm |
Neoplasms; Endocrine System Diseases |
| C0040147 |
BXGD002847 |
Thyroiditis |
Endocrine System Diseases |
| C0041341 |
BXGD002918 |
Tuberous Sclerosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases |
| C0041696 |
BXGD002932 |
Unipolar Depression |
Mental Disorders |
| C0041834 |
BXGD002935 |
Erythema |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0042769 |
BXGD002999 |
Virus Diseases |
Infections |
| C0043119 |
BXGD003029 |
Werner Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0043194 |
BXGD003036 |
Wiskott-Aldrich Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0043346 |
BXGD003043 |
Xeroderma Pigmentosum |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases |
| C0079731 |
BXGD003087 |
B-Cell Lymphomas |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0079744 |
BXGD003090 |
Diffuse Large B-Cell Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0080174 |
BXGD003106 |
Spina Bifida Occulta |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0085110 |
BXGD003126 |
Severe Combined Immunodeficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases |
| C0085669 |
BXGD003233 |
Acute leukemia |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0087012 |
BXGD003318 |
Ataxia, Spinocerebellar |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0151779 |
BXGD003473 |
Cutaneous Melanoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0151908 |
BXGD003502 |
Dry skin |
Skin and Connective Tissue Diseases |
| C0153381 |
BXGD003626 |
Malignant neoplasm of mouth |
Neoplasms; Stomatognathic Diseases |
| C0162429 |
BXGD003942 |
Malnutrition |
Nutritional and Metabolic Diseases |
| C0162670 |
BXGD003970 |
Mitochondrial Myopathies |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System 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 |
| C0206019 |
BXGD004144 |
HIV Encephalopathy |
Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders |
| C0206658 |
BXGD004221 |
Smooth Muscle Tumor |
Neoplasms |
| C0220641 |
BXGD004305 |
Lip and Oral Cavity Carcinoma |
Neoplasms; Stomatognathic Diseases |
| C0221277 |
BXGD004434 |
Atypical lymphocyte |
|
| C0221356 |
BXGD004448 |
Brachycephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221357 |
BXGD004449 |
Brachydactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238463 |
BXGD004938 |
Papillary thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0239174 |
BXGD004969 |
Late tooth eruption |
|
| C0239998 |
BXGD005012 |
Recurrent infections |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases |
| C0240635 |
BXGD005047 |
Byzanthine arch palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases |
| C0241165 |
BXGD005083 |
Thick skin |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0243026 |
BXGD005210 |
Sepsis |
Pathological Conditions, Signs and Symptoms; Infections |
| C0262374 |
BXGD005230 |
Stricture of anus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C0262985 |
BXGD005277 |
Psoriasiform eczema |
Skin and Connective Tissue Diseases |
| C0263401 |
BXGD005298 |
Cutis marmorata |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries |
| C0265202 |
BXGD005461 |
Seckel syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0265660 |
BXGD005561 |
Syndactyly of the toes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266435 |
BXGD005668 |
Congenital hypoplasia of penis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0267026 |
BXGD005727 |
Actinic cheilitis |
Stomatognathic Diseases |
| C0268579 |
BXGD005995 |
Propionic acidemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0270921 |
BXGD006133 |
Axonal neuropathy |
Nervous System Diseases |
| C0276548 |
BXGD006430 |
HIV encephalitis |
Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders |
| C0277828 |
BXGD006480 |
Late fontanel closure |
|
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278764 |
BXGD006581 |
Adult Burkitt Lymphoma |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0278879 |
BXGD006610 |
Childhood Burkitt Lymphoma |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0279628 |
BXGD006659 |
Adenocarcinoma Of Esophagus |
Digestive System Diseases; Neoplasms |
| C0279702 |
BXGD006685 |
Conventional (Clear Cell) Renal Cell Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0302592 |
BXGD006851 |
Cervix carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0334590 |
BXGD007129 |
Anaplastic Oligodendroglioma |
Neoplasms |
| C0342573 |
BXGD007508 |
PITUITARY DWARFISM I |
Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0343641 |
BXGD007636 |
Human papilloma virus infection |
Infections |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0349506 |
BXGD007912 |
Photosensitivity of skin |
Skin and Connective Tissue Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0393591 |
BXGD008102 |
AICARDI-GOUTIERES SYNDROME |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases |
| C0398791 |
BXGD008233 |
Nijmegen Breakage Syndrome |
Nutritional and Metabolic Diseases |
| C0401151 |
BXGD008274 |
Chronic diarrhea |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0423109 |
BXGD008470 |
Upward slant of palpebral fissure |
|
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0423867 |
BXGD008517 |
Fine hair |
|
| C0424605 |
BXGD008535 |
Developmental delay (disorder) |
Mental Disorders |
| C0424711 |
BXGD008541 |
Orbital separation diminished |
|
| C0426415 |
BXGD008560 |
Large nose |
|
| C0426848 |
BXGD008590 |
Sacral dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0426891 |
BXGD008595 |
Broad thumbs |
|
| C0427515 |
BXGD008619 |
Neutrophil abnormality |
|
| C0432072 |
BXGD008718 |
Dysmorphic features |
|
| C0432103 |
BXGD008722 |
Submucous cleft of hard palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0454644 |
BXGD008850 |
Delayed speech and language development |
Behavior and Behavior Mechanisms |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0494261 |
BXGD009023 |
Combined immunodeficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases |
| C0497156 |
BXGD009053 |
Lymphadenopathy |
Hemic and Lymphatic Diseases |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0544886 |
BXGD009319 |
Somatic mutation |
|
| C0549473 |
BXGD009384 |
Thyroid carcinoma |
Neoplasms; Endocrine System Diseases |
| C0555198 |
BXGD009432 |
Malignant Glioma |
Neoplasms |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0575802 |
BXGD009521 |
Small hand |
|
| C0576226 |
BXGD009527 |
Short foot |
|
| C0578038 |
BXGD009542 |
Thin lips |
|
| 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 |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0700095 |
BXGD009875 |
Central neuroblastoma |
Neoplasms; Nervous System Diseases |
| C0700216 |
BXGD009881 |
Structural Clinical Interview for DSM-III |
|
| C0740391 |
BXGD009987 |
Middle Cerebral Artery Occlusion |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0850715 |
BXGD010907 |
Abnormality of blood and blood-forming tissues |
|
| C0878787 |
BXGD011392 |
Growth failure |
|
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0948008 |
BXGD011499 |
Ischemic stroke |
Nervous System Diseases; Cardiovascular Diseases |
| C1140680 |
BXGD011718 |
Malignant neoplasm of ovary |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C1168401 |
BXGD011792 |
Squamous cell carcinoma of the head and neck |
Neoplasms |
| C1260926 |
BXGD011844 |
Abnormal pigmentation |
|
| C1263846 |
BXGD011897 |
Attention deficit hyperactivity disorder |
Mental Disorders |
| C1269683 |
BXGD012001 |
Major Depressive Disorder |
Mental Disorders |
| C1292769 |
BXGD012230 |
Precursor B-cell lymphoblastic leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1292778 |
BXGD012237 |
Chronic myeloproliferative disorder |
Neoplasms; Hemic and Lymphatic Diseases |
| 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 |
| C1332225 |
BXGD012515 |
Aggressive Non-Hodgkin Lymphoma |
|
| C1332977 |
BXGD012569 |
Childhood Leukemia |
Neoplasms |
| 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 |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1512409 |
BXGD013188 |
Hepatocarcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1512981 |
BXGD013196 |
Mammary Tumorigenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1623038 |
BXGD013475 |
Cirrhosis |
Pathological Conditions, Signs and Symptoms |
| C1836195 |
BXGD014094 |
Short toe |
|
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1837279 |
BXGD014217 |
Hypoplastic toenails |
|
| C1837463 |
BXGD014235 |
Narrow face |
|
| C1837758 |
BXGD014265 |
Bird-like facies |
|
| C1839758 |
BXGD014402 |
Narrow forehead |
|
| C1840069 |
BXGD014433 |
Sandal gap |
|
| C1842366 |
BXGD014512 |
Low anterior hairline |
|
| C1842714 |
BXGD014535 |
Desquamation of skin soon after birth |
|
| C1846574 |
BXGD014830 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C1847827 |
BXGD014891 |
LIG4 Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases |
| C1848673 |
BXGD014963 |
Hypoplastic feet |
|
| C1849367 |
BXGD015046 |
Nasal bridge wide |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1854418 |
BXGD015402 |
Biparietal narrowing |
|
| C1855285 |
BXGD015483 |
Protruding ear |
|
| C1857042 |
BXGD015669 |
Sparse scalp hair |
|
| C1857206 |
BXGD015684 |
Sparse lateral eyebrow |
|
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1857679 |
BXGD015735 |
Sloping forehead |
|
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1861866 |
BXGD016087 |
Aplasia/Hypoplasia of the corpus callosum |
|
| C1861869 |
BXGD016088 |
Underdeveloped supraorbital ridges |
|
| C1865370 |
BXGD016320 |
Severe combined immunodeficiency with sensitivity to ionizing radiation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases |
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1961102 |
BXGD016673 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C1963094 |
BXGD016681 |
Dry Skin, CTCAE |
|
| C1963099 |
BXGD016682 |
Myelodysplasia, CTCAE |
|
| C1963165 |
BXGD016685 |
Malabsorption, CTCAE |
|
| C1963184 |
BXGD016688 |
Nystagmus, CTCAE 3.0 |
|
| C1969799 |
BXGD016794 |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2316810 |
BXGD017030 |
Chronic kidney disease stage 5 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2347761 |
BXGD017049 |
Childhood Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C2700553 |
BXGD017472 |
Omenn Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3179508 |
BXGD018554 |
Aplasia/Hypoplasia of the thumb |
Musculoskeletal Diseases |
| C3272841 |
BXGD018637 |
MUTYH-Associate Polyposis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms |
| C3463824 |
BXGD018899 |
MYELODYSPLASTIC SYNDROME |
Hemic and Lymphatic Diseases |
| C3495559 |
BXGD018994 |
Juvenile arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C3553764 |
BXGD019187 |
Joint hyperflexibility |
|
| C3714636 |
BXGD019421 |
Pneumonitis |
Infections; Respiratory Tract Diseases |
| C3714745 |
BXGD019427 |
Malabsorption |
Digestive System Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3900098 |
BXGD020106 |
Adult Myelodysplastic Syndrome |
Hemic and Lymphatic Diseases |
| C4016019 |
BXGD020257 |
DNA Ligase I Deficiency |
|
| C4021395 |
BXGD020625 |
Abnormality of the antihelix |
|
| C4021822 |
BXGD020807 |
Abnormality of female external genitalia |
|
| C4021956 |
BXGD020839 |
Aplasia/Hypoplasia of the eyebrow |
|
| C4022018 |
BXGD020872 |
Telangiectasia of the skin |
Cardiovascular Diseases |
| C4025579 |
BXGD021676 |
Large beaked nose |
|
| C4025814 |
BXGD021806 |
Abnormality of the metaphysis |
|
| C4048270 |
BXGD021897 |
Decreased antibody level in blood |
|
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4082169 |
BXGD022084 |
Metatarsus Varus |
Musculoskeletal Diseases |
| C4086165 |
BXGD022126 |
Childhood Neuroblastoma |
Neoplasms |
| C4551705 |
BXGD023397 |
Abnormality of chromosome stability |
|
| C4551936 |
BXGD023442 |
Anal Stenosis, CTCAE |
|
| C4554036 |
BXGD023557 |
Nystagmus, CTCAE 5.0 |
|
| C4721579 |
BXGD023759 |
Secondary malignant neoplasm of colon and/or rectum |
Digestive System Diseases; Neoplasms |
| C4721610 |
BXGD023760 |
Carcinoma, Ovarian Epithelial |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4744564 |
BXGD023947 |
Metastatic Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |