| C0000744 |
BXGD000006 |
Abetalipoproteinemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0001623 |
BXGD000066 |
Adrenal gland hypofunction |
Endocrine System Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0004364 |
BXGD000270 |
Autoimmune Diseases |
Immune System Diseases |
| C0004509 |
BXGD000275 |
Azoospermia |
Male Urogenital Diseases |
| C0004779 |
BXGD000291 |
Basal Cell Nevus Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0006826 |
BXGD000408 |
Malignant Neoplasms |
Neoplasms |
| C0007103 |
BXGD000426 |
Malignant neoplasm of endometrium |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0009402 |
BXGD000605 |
Colorectal Carcinoma |
Digestive System Diseases; Neoplasms |
| C0010346 |
BXGD000664 |
Crohn Disease |
Digestive System Diseases |
| C0010417 |
BXGD000670 |
Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0011854 |
BXGD000753 |
Diabetes Mellitus, Insulin-Dependent |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases |
| C0011881 |
BXGD000760 |
Diabetic Nephropathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0013377 |
BXGD000825 |
Dysgerminoma |
Neoplasms |
| C0016057 |
BXGD001042 |
Fibrosarcoma |
Neoplasms |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0018051 |
BXGD001167 |
Gonadal Dysgenesis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0018054 |
BXGD001168 |
Gonadal Dysgenesis, 46,XY |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0018418 |
BXGD001192 |
Gynecomastia |
Skin and Connective Tissue Diseases |
| C0019621 |
BXGD001340 |
Histiocytosis, Langerhans-Cell |
Respiratory Tract Diseases; Hemic and Lymphatic Diseases |
| C0020179 |
BXGD001363 |
Huntington Disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders |
| C0020217 |
BXGD001365 |
Hydatidiform Mole |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0021364 |
BXGD001500 |
Male infertility |
Male Urogenital Diseases |
| C0021841 |
BXGD001519 |
Intestinal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024232 |
BXGD001751 |
Lymphatic Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0024623 |
BXGD001791 |
Malignant neoplasm of stomach |
Digestive System Diseases; Neoplasms |
| C0025149 |
BXGD001826 |
Medulloblastoma |
Neoplasms |
| C0025202 |
BXGD001832 |
melanoma |
Neoplasms |
| C0027627 |
BXGD002006 |
Neoplasm Metastasis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027708 |
BXGD002025 |
Nephroblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027726 |
BXGD002030 |
Nephrotic Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027819 |
BXGD002043 |
Neuroblastoma |
Neoplasms |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0030297 |
BXGD002204 |
Pancreatic Neoplasm |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0032460 |
BXGD002355 |
Polycystic Ovary Syndrome |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0033578 |
BXGD002408 |
Prostatic Neoplasms |
Neoplasms; Male Urogenital Diseases |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0035222 |
BXGD002513 |
Respiratory Distress Syndrome, Adult |
Respiratory Tract 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 |
| C0079731 |
BXGD003087 |
B-Cell Lymphomas |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0086543 |
BXGD003294 |
Cataract |
Eye Diseases |
| C0151639 |
BXGD003452 |
Decreased fertility in females |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0156394 |
BXGD003856 |
Hypertrophy of clitoris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0200635 |
BXGD004041 |
Lymphocyte Count measurement |
|
| C0206661 |
BXGD004224 |
Gonadoblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0206686 |
BXGD004241 |
Adrenocortical carcinoma |
Neoplasms; Endocrine System Diseases |
| C0206698 |
BXGD004248 |
Cholangiocarcinoma |
Neoplasms |
| C0220620 |
BXGD004299 |
Gastrointestinal Carcinoid Tumor |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0221182 |
BXGD004401 |
Chordee |
Male Urogenital Diseases |
| C0232939 |
BXGD004568 |
Primary physiologic amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0235974 |
BXGD004796 |
Pancreatic carcinoma |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0238395 |
BXGD004922 |
Male Pseudohermaphroditism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0241011 |
BXGD005073 |
Low serum estradiol levels |
|
| C0241355 |
BXGD005092 |
Small testicle |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0266371 |
BXGD005659 |
Streak ovary |
|
| C0266427 |
BXGD005665 |
Testicular regression syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0271623 |
BXGD006222 |
Hypogonadotropic hypogonadism |
Endocrine System Diseases |
| C0276447 |
BXGD006425 |
Rhinovirus infection |
Infections |
| C0278510 |
BXGD006526 |
Childhood Medulloblastoma |
Neoplasms |
| C0278595 |
BXGD006545 |
Adult Fibrosarcoma |
Neoplasms |
| C0278876 |
BXGD006607 |
Adult Medulloblastoma |
Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279748 |
BXGD006693 |
Undifferentiated carcinoma of nasopharynx |
|
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0281361 |
BXGD006774 |
Adenocarcinoma of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0302885 |
BXGD006863 |
Testicular dysgenesis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0334663 |
BXGD007149 |
Histiocytic sarcoma |
Neoplasms; Hemic and Lymphatic Diseases |
| C0339525 |
BXGD007258 |
Autosomal dominant retinitis pigmentosa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0339573 |
BXGD007271 |
Glaucoma, Primary Open Angle |
Eye Diseases |
| C0345309 |
BXGD007725 |
Hypoplasia of vagina |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0346429 |
BXGD007828 |
Multiple malignancy |
Neoplasms |
| C0346647 |
BXGD007832 |
Malignant neoplasm of pancreas |
Digestive System Diseases; Neoplasms; Endocrine System Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0476089 |
BXGD008977 |
Endometrial Carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| 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 |
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0686619 |
BXGD009835 |
Secondary malignant neoplasm of lymph node |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0699791 |
BXGD009867 |
Stomach Carcinoma |
Digestive System Diseases; Neoplasms |
| C0748355 |
BXGD010195 |
Acute respiratory distress |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases |
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0919267 |
BXGD011426 |
ovarian neoplasm |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0948896 |
BXGD011563 |
Primary hypogonadism |
Endocrine System Diseases |
| C1257931 |
BXGD011815 |
Mammary Neoplasms, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1306459 |
BXGD012361 |
Primary malignant neoplasm |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1334807 |
BXGD012741 |
Mucinous carcinoma of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1515283 |
BXGD013209 |
Testicular gonadoblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C1518716 |
BXGD013227 |
Ovarian gonadoblastoma |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1691215 |
BXGD013491 |
Penile hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1848178 |
BXGD014909 |
Female external genitalia in individual with 46,XY karyotype |
|
| C1849265 |
BXGD015028 |
Overgrowth |
|
| C1858573 |
BXGD015809 |
Sparse pubic hair |
|
| C1858574 |
BXGD015810 |
Sparse axillary hair |
|
| C1859014 |
BXGD015843 |
Primary gonadal insufficiency |
|
| C1960539 |
BXGD016665 |
Aromatase deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases |
| C2239176 |
BXGD016965 |
Liver carcinoma |
Digestive System Diseases; Neoplasms |
| C2751824 |
BXGD017742 |
46, XY Disorders of Sex Development |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C2930619 |
BXGD017890 |
Sex Differentiation Disorders |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C2936694 |
BXGD018127 |
Swyer Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C2938924 |
BXGD018167 |
Oestrogen receptor positive breast cancer |
|
| C2939419 |
BXGD018178 |
Secondary Neoplasm |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C3151064 |
BXGD018383 |
46,XY SEX REVERSAL 6 |
|
| C3463897 |
BXGD018900 |
HYDATIDIFORM MOLE, RECURRENT, 1 |
|
| C3642345 |
BXGD019244 |
Luminal A Breast Carcinoma |
|
| C3642346 |
BXGD019245 |
Luminal B Breast Carcinoma |
|
| C3899655 |
BXGD020091 |
Childhood Langerhans Cell Histiocytosis |
Respiratory Tract Diseases; Hemic and Lymphatic Diseases |
| C3900100 |
BXGD020108 |
Adult Langerhans Cell Histiocytosis |
Respiratory Tract Diseases; Hemic and Lymphatic Diseases |
| C4021550 |
BXGD020666 |
Elevated circulating follicle stimulating hormone level |
|
| C4021551 |
BXGD020667 |
Absence of secondary sex characteristics |
|
| C4021972 |
BXGD020849 |
Urogenital sinus anomaly |
|
| C4022995 |
BXGD021056 |
Sex reversal |
|
| C4022996 |
BXGD021057 |
Abnormal sex determination |
|
| C4023101 |
BXGD021106 |
Elevated circulating luteinizing hormone level |
|
| C4025892 |
BXGD021850 |
Abnormality of the labia |
|
| C4025895 |
BXGD021851 |
Abnormality of the scrotum |
|
| C4049796 |
BXGD021951 |
Abnormality of cardiovascular system morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C4073137 |
BXGD022045 |
Decreased serum testosterone level |
|
| C4510744 |
BXGD022986 |
46,XY partial gonadal dysgenesis |
|
| C4704874 |
BXGD023682 |
Mammary Carcinoma, Human |
Neoplasms; Skin and Connective Tissue Diseases |
| C4722085 |
BXGD023788 |
Malignant neoplasm of colon and/or rectum |
|
| C4733092 |
BXGD023907 |
estrogen receptor-negative breast cancer |
|