| C0001418 |
BXGD000050 |
Adenocarcinoma |
Neoplasms |
| C0001430 |
BXGD000054 |
Adenoma |
Neoplasms |
| C0001627 |
BXGD000068 |
Congenital adrenal hyperplasia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0002453 |
BXGD000117 |
Amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0002726 |
BXGD000125 |
Amyloidosis |
Nutritional and Metabolic Diseases |
| C0003706 |
BXGD000215 |
Arachnodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0003803 |
BXGD000220 |
Arnold Chiari Malformation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0004096 |
BXGD000252 |
Asthma |
Respiratory Tract Diseases; Immune System Diseases |
| C0005586 |
BXGD000315 |
Bipolar Disorder |
Mental Disorders |
| 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 |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007621 |
BXGD000468 |
Neoplastic Cell Transformation |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0008297 |
BXGD000522 |
Choanal Atresia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0008495 |
BXGD000548 |
Chorioamnionitis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0009363 |
BXGD000599 |
Congenital ocular coloboma (disorder) |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0010054 |
BXGD000647 |
Coronary Arteriosclerosis |
Cardiovascular Diseases |
| C0010068 |
BXGD000648 |
Coronary heart disease |
Cardiovascular Diseases |
| 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 |
| C0010481 |
BXGD000673 |
Cushing Syndrome |
Endocrine System 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 |
| C0014859 |
BXGD000961 |
Esophageal Neoplasms |
Digestive System Diseases; Neoplasms |
| C0015300 |
BXGD000973 |
Exophthalmos |
Eye Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0017654 |
BXGD001136 |
Glomerular Filtration Rate |
|
| C0018777 |
BXGD001217 |
Conductive hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C0018790 |
BXGD001221 |
Cardiac Arrest |
Cardiovascular Diseases |
| C0018817 |
BXGD001235 |
Atrial Septal Defects |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0019572 |
BXGD001338 |
Hirsutism |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0019911 |
BXGD001352 |
Hookworm Infections |
Infections |
| C0020255 |
BXGD001369 |
Hydrocephalus |
Nervous System Diseases |
| C0020433 |
BXGD001379 |
Hyperbilirubinemia |
Pathological Conditions, Signs and Symptoms |
| C0020445 |
BXGD001386 |
Hypercholesterolemia, Familial |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0020534 |
BXGD001421 |
Orbital separation excessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0020649 |
BXGD001459 |
Hypotension |
Cardiovascular Diseases |
| C0022660 |
BXGD001571 |
Kidney Failure, Acute |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023186 |
BXGD001613 |
Learning Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0024121 |
BXGD001735 |
Lung Neoplasms |
Neoplasms; Respiratory Tract Diseases |
| C0024809 |
BXGD001808 |
Marijuana Abuse |
Chemically-Induced Disorders; Mental Disorders |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0032285 |
BXGD002344 |
Pneumonia |
Infections; Respiratory Tract Diseases |
| C0032460 |
BXGD002355 |
Polycystic Ovary Syndrome |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0032796 |
BXGD002372 |
Postpartum Amenorrhea |
Pathological Conditions, Signs and Symptoms |
| C0034012 |
BXGD002449 |
Delayed Puberty |
Endocrine System Diseases |
| C0034734 |
BXGD002486 |
Raynaud Disease |
Cardiovascular Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036690 |
BXGD002632 |
Septicemia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0038436 |
BXGD002755 |
Post-Traumatic Stress Disorder |
Mental Disorders |
| C0039093 |
BXGD002789 |
Congenital abnormal Synostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0039128 |
BXGD002794 |
Syphilis |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0042510 |
BXGD002987 |
Ventricular Fibrillation |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0042514 |
BXGD002989 |
Tachycardia, Ventricular |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0042582 |
BXGD002993 |
Vesicovaginal Fistula |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0079924 |
BXGD003103 |
Oligohydramnios |
Female Urogenital Diseases and Pregnancy Complications |
| C0086132 |
BXGD003264 |
Depressive Symptoms |
Behavior and Behavior Mechanisms |
| C0151639 |
BXGD003452 |
Decreased fertility in females |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C0151640 |
BXGD003453 |
Decreased fertility in males |
Male Urogenital Diseases |
| C0152018 |
BXGD003518 |
Esophageal carcinoma |
Digestive System Diseases; Neoplasms |
| C0156394 |
BXGD003856 |
Hypertrophy of clitoris |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0158113 |
BXGD003875 |
Contracture of joint of hand |
Musculoskeletal Diseases |
| C0158761 |
BXGD003905 |
Radioulnar Synostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0200638 |
BXGD004043 |
Eosinophil count procedure |
|
| C0206624 |
BXGD004190 |
Hepatoblastoma |
Neoplasms |
| C0206667 |
BXGD004228 |
Adrenal Cortical Adenoma |
Neoplasms; Endocrine System Diseases |
| C0206726 |
BXGD004271 |
gliosarcoma |
Neoplasms |
| C0220724 |
BXGD004332 |
CONSTRICTING BANDS, CONGENITAL |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0221182 |
BXGD004401 |
Chordee |
Male Urogenital Diseases |
| C0221353 |
BXGD004445 |
Horseshoe Kidney |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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 |
| C0221369 |
BXGD004453 |
Acquired Camptodactyly |
|
| C0234253 |
BXGD004647 |
Rest pain |
Pathological Conditions, Signs and Symptoms |
| C0235991 |
BXGD004802 |
Small for gestational age (disorder) |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications |
| C0236734 |
BXGD004823 |
Caffeine related disorders |
|
| C0238395 |
BXGD004922 |
Male Pseudohermaphroditism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0240912 |
BXGD005062 |
Vertical Talus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0241011 |
BXGD005073 |
Low serum estradiol levels |
|
| C0241240 |
BXGD005089 |
Tall stature |
|
| C0241355 |
BXGD005092 |
Small testicle |
|
| C0242379 |
BXGD005157 |
Malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C0243026 |
BXGD005210 |
Sepsis |
Pathological Conditions, Signs and Symptoms; Infections |
| C0262405 |
BXGD005237 |
Cerebral dysfunction |
Nervous System Diseases |
| C0264303 |
BXGD005379 |
Laryngomalacia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases |
| C0264353 |
BXGD005382 |
Bronchomalacia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases |
| C0264490 |
BXGD005394 |
Acute respiratory failure |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Respiratory Tract Diseases |
| C0265610 |
BXGD005555 |
Clinodactyly of fingers |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265654 |
BXGD005559 |
Tarsal Coalition |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0265677 |
BXGD005564 |
Congenital hemivertebra |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0266275 |
BXGD005641 |
Ectopic adrenal gland |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0266362 |
BXGD005657 |
Ambiguous Genitalia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0280100 |
BXGD006713 |
Solid Neoplasm |
Neoplasms |
| C0302280 |
BXGD006836 |
Adrenogenital Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C0302511 |
BXGD006849 |
Small for gestational age fetus |
Pathological Conditions, Signs and Symptoms |
| C0333068 |
BXGD006920 |
Flexion contracture |
Musculoskeletal Diseases |
| C0338656 |
BXGD007211 |
Impaired cognition |
Mental Disorders |
| C0338908 |
BXGD007218 |
Mixed anxiety and depressive disorder |
Mental Disorders |
| C0341787 |
BXGD007422 |
Bifid scrotum |
|
| C0342443 |
BXGD007481 |
Adrenal Cushing's syndrome |
Endocrine System Diseases |
| C0342527 |
BXGD007496 |
Deficiency of testosterone biosynthesis |
Endocrine System Diseases |
| C0342546 |
BXGD007502 |
Premature adrenarche |
|
| C0345309 |
BXGD007725 |
Hypoplasia of vagina |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0345958 |
BXGD007751 |
Large cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0395837 |
BXGD008169 |
Stenosis of external auditory canal |
|
| C0404572 |
BXGD008322 |
Female infertility associated with anovulation |
Female Urogenital Diseases and Pregnancy Complications |
| C0426790 |
BXGD008577 |
Narrow thorax |
|
| C0431659 |
BXGD008699 |
Hypoplasia of scrotum |
|
| C0431863 |
BXGD008709 |
Carpal synostosis |
|
| C0452148 |
BXGD008833 |
Hypospadias, perineal |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0520463 |
BXGD009085 |
Chronic active hepatitis |
Digestive System Diseases |
| C0520904 |
BXGD009121 |
Postoperative Nausea |
Pathological Conditions, Signs and Symptoms |
| C0541764 |
BXGD009259 |
Delayed bone age |
|
| C0545053 |
BXGD009323 |
Advanced bone age |
|
| C0546837 |
BXGD009343 |
Malignant neoplasm of esophagus |
Digestive System Diseases; Neoplasms |
| C0566899 |
BXGD009494 |
Small labia majora |
|
| C0584837 |
BXGD009578 |
Choanal stenosis |
Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases |
| C0584960 |
BXGD009579 |
Factor V Leiden mutation |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases |
| C0596887 |
BXGD009648 |
mathematical ability |
|
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0684249 |
BXGD009790 |
Carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0685409 |
BXGD009810 |
Congenital Camptodactyly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0702166 |
BXGD009912 |
Acne |
Skin and Connective Tissue Diseases |
| C0740852 |
BXGD010011 |
Upper airway obstruction |
|
| C0742343 |
BXGD010061 |
Acute Chest Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases |
| C0745103 |
BXGD010114 |
Hyperlipoproteinemia Type IIa |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0751262 |
BXGD010368 |
Adult Learning Disorders |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0751263 |
BXGD010369 |
Learning Disturbance |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0751265 |
BXGD010370 |
Learning Disabilities |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C0751772 |
BXGD010583 |
REM Sleep Behavior Disorder |
Nervous System Diseases; Mental Disorders |
| C0810330 |
BXGD010845 |
preeclampsia and eclampsia |
|
| C0848558 |
BXGD010882 |
Hypospadias |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0852654 |
BXGD010947 |
21-hydroxylase deficiency |
|
| C0857379 |
BXGD011148 |
Abnormality of the pinna |
|
| C0948008 |
BXGD011499 |
Ischemic stroke |
Nervous System Diseases; Cardiovascular Diseases |
| C0948089 |
BXGD011504 |
Acute Coronary Syndrome |
Cardiovascular Diseases |
| C0948379 |
BXGD011533 |
Impaired insulin secretion |
|
| C1112442 |
BXGD011668 |
Female sexual dysfunction |
|
| C1145670 |
BXGD011764 |
Respiratory Failure |
Respiratory Tract Diseases |
| C1280777 |
BXGD012128 |
displaced uterus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1291312 |
BXGD012208 |
Deficiency of oxidase |
|
| C1291557 |
BXGD012217 |
Deficiency of lyase |
|
| C1298820 |
BXGD012252 |
Aneurysm of aortic root |
Cardiovascular Diseases |
| C1304508 |
BXGD012341 |
Spindle cell hemangioma |
Neoplasms |
| C1306460 |
BXGD012362 |
Primary malignant neoplasm of lung |
Neoplasms; Respiratory Tract Diseases |
| C1321884 |
BXGD012448 |
Atresia of vagina |
|
| C1330966 |
BXGD012478 |
Developmental Academic Disorder |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders |
| C1333977 |
BXGD012663 |
Hepatitis B Virus-Related Hepatocellular Carcinoma |
|
| C1384670 |
BXGD012949 |
Single umbilical artery |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C1387005 |
BXGD012953 |
Penis agenesis |
Male Urogenital Diseases |
| C1458155 |
BXGD013136 |
Mammary Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C1504532 |
BXGD013149 |
Post transplant diabetes mellitus |
|
| C1510586 |
BXGD013176 |
Autism Spectrum Disorders |
Mental Disorders |
| C1833340 |
BXGD013918 |
Synostotic Posterior Plagiocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1836623 |
BXGD014139 |
Decreased circulating cortisol level |
Immune System Diseases; Endocrine System Diseases |
| C1837532 |
BXGD014246 |
Fused labia minora |
|
| C1848103 |
BXGD014905 |
Narrow pelvis bone |
|
| C1848178 |
BXGD014909 |
Female external genitalia in individual with 46,XY karyotype |
|
| C1850325 |
BXGD015128 |
Labial hypoplasia |
|
| C1853242 |
BXGD015322 |
Midface retrusion |
|
| C1853482 |
BXGD015338 |
Pear-shaped nose |
|
| C1856266 |
BXGD015589 |
Coronal craniosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| 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 |
| C1858085 |
BXGD015770 |
Malar flattening |
|
| C1859461 |
BXGD015895 |
Femoral bowing |
Musculoskeletal Diseases |
| C1860042 |
BXGD015950 |
Antley-Bixler Syndrome with Disordered Steroidogenesis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C1860048 |
BXGD015951 |
Temporal bossing |
|
| C1860050 |
BXGD015952 |
Cloverleaf skull |
|
| C1865014 |
BXGD016282 |
Long philtrum |
|
| C1865847 |
BXGD016344 |
Ulnar bowing |
|
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1956346 |
BXGD016627 |
Coronary Artery Disease |
Cardiovascular 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 |
| C2350233 |
BXGD017072 |
Antley-Bixler Syndrome Phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C2930865 |
BXGD017908 |
Ramer Ladda syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C2936791 |
BXGD018138 |
Antley-Bixler Syndrome, Autosomal Dominant |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C3150099 |
BXGD018293 |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS |
|
| C3539878 |
BXGD019087 |
Triple Negative Breast Neoplasms |
Neoplasms; Skin and Connective Tissue Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3854173 |
BXGD019824 |
Pre-renal acute kidney injury |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C3854222 |
BXGD019826 |
Human immunodeficiency virus (HIV) II infection category B1 |
|
| C4020869 |
BXGD020489 |
Abnormality of abdomen morphology |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases |
| C4021124 |
BXGD020560 |
Adrenocorticotropic hormone excess |
Nervous System Diseases; Endocrine System Diseases |
| C4021551 |
BXGD020667 |
Absence of secondary sex characteristics |
|
| C4021740 |
BXGD020748 |
Increased circulating ACTH level |
|
| C4021768 |
BXGD020766 |
Abnormality of metabolism/homeostasis |
|
| C4021823 |
BXGD020808 |
Ambiguous genitalia, male |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C4021972 |
BXGD020849 |
Urogenital sinus anomaly |
|
| C4022554 |
BXGD020915 |
Hyperpigmented genitalia |
|
| C4022695 |
BXGD020962 |
Abnormality of the labia majora |
|
| C4022996 |
BXGD021057 |
Abnormal sex determination |
|
| C4024641 |
BXGD021355 |
Enlarged polycystic ovaries |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases |
| C4024734 |
BXGD021394 |
Low maternal serum estriol |
|
| C4024735 |
BXGD021395 |
Maternal virilization in pregnancy |
|
| C4024878 |
BXGD021453 |
Generalized hyperpigmentation |
Skin and Connective Tissue Diseases |
| C4025823 |
BXGD021811 |
Abnormality of the endocrine system |
|
| C4025888 |
BXGD021848 |
Abnormality of the menstrual cycle |
Pathological Conditions, Signs and Symptoms |
| C4025891 |
BXGD021849 |
Ambiguous genitalia, female |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases |
| C4072885 |
BXGD022010 |
Increased serum testosterone level |
|
| C4073137 |
BXGD022045 |
Decreased serum testosterone level |
|
| C4551485 |
BXGD023312 |
Clinodactyly |
|
| C4551596 |
BXGD023368 |
Abnormal renal morphology |
|
| C4722518 |
BXGD023806 |
Triple-Negative Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |