| C0000768 |
BXGD000007 |
Congenital Abnormality |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0002395 |
BXGD000111 |
Alzheimer's Disease |
Nervous System Diseases; Mental Disorders |
| C0003864 |
BXGD000231 |
Arthritis |
Musculoskeletal Diseases |
| C0003873 |
BXGD000236 |
Rheumatoid Arthritis |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases |
| C0004623 |
BXGD000282 |
Bacterial Infections |
Infections |
| C0005744 |
BXGD000330 |
Blepharophimosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0007137 |
BXGD000445 |
Squamous cell carcinoma |
Neoplasms |
| C0007222 |
BXGD000454 |
Cardiovascular Diseases |
Cardiovascular Diseases |
| C0007847 |
BXGD000492 |
Malignant tumor of cervix |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0008073 |
BXGD000518 |
Developmental Disabilities |
Mental Disorders |
| C0008924 |
BXGD000574 |
Cleft upper lip |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases |
| C0008925 |
BXGD000575 |
Cleft Palate |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C0010278 |
BXGD000660 |
Craniosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0010674 |
BXGD000683 |
Cystic Fibrosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases |
| C0011269 |
BXGD000710 |
Dementia, Vascular |
Nervous System Diseases; Mental Disorders; Cardiovascular 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 |
| C0012739 |
BXGD000786 |
Disseminated Intravascular Coagulation |
Hemic and Lymphatic Diseases |
| C0013274 |
BXGD000809 |
Patent ductus arteriosus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases |
| C0015934 |
BXGD001026 |
Fetal Growth Retardation |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0017601 |
BXGD001125 |
Glaucoma |
Eye Diseases |
| C0017658 |
BXGD001138 |
Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0018777 |
BXGD001217 |
Conductive hearing loss |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic 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 |
| C0018835 |
BXGD001239 |
Heartwater Disease |
Infections; Animal Diseases |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| 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 |
| C0022283 |
BXGD001533 |
Incontinentia Pigmenti Achromians |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0023895 |
BXGD001717 |
Liver diseases |
Digestive System Diseases |
| C0024003 |
BXGD001726 |
Lordosis |
Musculoskeletal Diseases |
| C0024131 |
BXGD001736 |
Lupus Vulgaris |
Infections; Skin and Connective Tissue Diseases |
| C0024138 |
BXGD001738 |
Lupus Erythematosus, Discoid |
Skin and Connective Tissue Diseases |
| C0024141 |
BXGD001740 |
Lupus Erythematosus, Systemic |
Skin and Connective Tissue Diseases; Immune System Diseases |
| C0025958 |
BXGD001882 |
Microcephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0026106 |
BXGD001889 |
Mild Mental Retardation |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026769 |
BXGD001930 |
Multiple Sclerosis |
Immune System Diseases; Nervous System Diseases |
| C0027051 |
BXGD001963 |
Myocardial Infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0035078 |
BXGD002505 |
Kidney Failure |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0036305 |
BXGD002593 |
Schamberg Disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0036439 |
BXGD002615 |
Scoliosis, unspecified |
Musculoskeletal Diseases |
| C0036690 |
BXGD002632 |
Septicemia |
Pathological Conditions, Signs and Symptoms; Infections |
| C0038525 |
BXGD002768 |
Subarachnoid Hemorrhage |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases |
| C0040433 |
BXGD002865 |
Tooth Crowding |
Stomatognathic Diseases |
| C0041296 |
BXGD002903 |
Tuberculosis |
Infections |
| C0041327 |
BXGD002916 |
Tuberculosis, Pulmonary |
Infections; Respiratory Tract Diseases |
| C0080174 |
BXGD003106 |
Spina Bifida Occulta |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0149782 |
BXGD003365 |
Squamous cell carcinoma of lung |
Neoplasms; Respiratory Tract Diseases |
| C0158761 |
BXGD003905 |
Radioulnar Synostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221766 |
BXGD004478 |
Diastasis recti |
Musculoskeletal Diseases; Wounds and Injuries |
| C0239105 |
BXGD004962 |
Conjunctival telangiectasis |
|
| C0239234 |
BXGD004974 |
Low set ears |
|
| C0239337 |
BXGD004978 |
Deformity of limb |
|
| C0239946 |
BXGD005010 |
Fibrosis, Liver |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases |
| C0242383 |
BXGD005160 |
Age related macular degeneration |
Eye Diseases |
| C0243026 |
BXGD005210 |
Sepsis |
Pathological Conditions, Signs and Symptoms; Infections |
| C0266011 |
BXGD005605 |
Accessory nipple |
Skin and Connective Tissue Diseases |
| C0279626 |
BXGD006657 |
Squamous cell carcinoma of esophagus |
Digestive System Diseases; Neoplasms |
| C0302142 |
BXGD006831 |
Deformity |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0302592 |
BXGD006851 |
Cervix carcinoma |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0376634 |
BXGD008006 |
Craniofacial Abnormalities |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0409974 |
BXGD008401 |
Lupus Erythematosus |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases |
| C0423110 |
BXGD008471 |
Downward slant of palpebral fissure |
|
| C0423113 |
BXGD008473 |
Telecanthus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0424690 |
BXGD008539 |
Asymmetrical skull |
|
| C0426848 |
BXGD008590 |
Sacral dimple |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0431663 |
BXGD008700 |
Bilateral Cryptorchidism |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0456909 |
BXGD008883 |
Blindness |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases |
| C0497202 |
BXGD009055 |
Abnormal ocular motility |
|
| C0549567 |
BXGD009387 |
Pigmentation Disorders |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases |
| C0576226 |
BXGD009527 |
Short foot |
|
| C0600139 |
BXGD009695 |
Prostate carcinoma |
Neoplasms; Male Urogenital Diseases |
| C0677898 |
BXGD009735 |
invasive cancer |
Neoplasms |
| C0752347 |
BXGD010721 |
Lewy Body Disease |
Nervous System Diseases; Mental Disorders |
| C0795690 |
BXGD010728 |
Congenital omphalocele |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C0796032 |
BXGD010784 |
Malpuech facial clefting syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases |
| C0796059 |
BXGD010790 |
Oculopalatoskeletal syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases |
| C0796279 |
BXGD010830 |
Carnevale syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0856169 |
BXGD011096 |
Endothelial dysfunction |
|
| C0948008 |
BXGD011499 |
Ischemic stroke |
Nervous System Diseases; Cardiovascular Diseases |
| C1269955 |
BXGD012005 |
Tumor Cell Invasion |
|
| C1303003 |
BXGD012318 |
Epicanthus inversus |
|
| C1306503 |
BXGD012363 |
Congenital exomphalos |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C1384666 |
BXGD012948 |
hearing impairment |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases |
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1833340 |
BXGD013918 |
Synostotic Posterior Plagiocephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1833662 |
BXGD013936 |
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders |
| C1842675 |
BXGD014528 |
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) |
|
| C1842878 |
BXGD014543 |
Short 5th finger |
|
| C1848673 |
BXGD014963 |
Hypoplastic feet |
|
| C1850049 |
BXGD015101 |
Clinodactyly of the 5th finger |
|
| C1850336 |
BXGD015130 |
Single interphalangeal crease of fifth finger |
|
| C1856266 |
BXGD015589 |
Coronal craniosynostosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C1859778 |
BXGD015931 |
Postnatal growth retardation |
|
| C1861331 |
BXGD016034 |
Limited pronation/supination of forearm |
|
| C1861869 |
BXGD016088 |
Underdeveloped supraorbital ridges |
|
| C1862939 |
BXGD016144 |
AMYOTROPHIC LATERAL SCLEROSIS 1 |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1862941 |
BXGD016145 |
Amyotrophic Lateral Sclerosis, Sporadic |
Nutritional and Metabolic Diseases; Nervous System Diseases |
| C1866134 |
BXGD016378 |
Wide anterior fontanel |
|
| C1866195 |
BXGD016385 |
Downturned corners of mouth |
|
| C1866241 |
BXGD016389 |
Broad foot |
Musculoskeletal Diseases |
| C1868571 |
BXGD016508 |
Highly arched eyebrow |
|
| C2931788 |
BXGD018064 |
Atypical Hemolytic Uremic Syndrome |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases |
| C2985280 |
BXGD018223 |
Blood Protein Measurement |
|
| C3152182 |
BXGD018461 |
Anterior chamber anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases |
| C3277117 |
BXGD018703 |
Caudal appendage |
|
| C3280586 |
BXGD018846 |
Mannose-Binding Protein Deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C3542025 |
BXGD019103 |
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE |
|
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3808403 |
BXGD019546 |
Large fleshy ears |
|
| C4021813 |
BXGD020799 |
Oral cleft |
|
| C4022490 |
BXGD020906 |
Prominent coccyx |
|
| C4025252 |
BXGD021607 |
Abnormal nasal morphology |
|
| C4048328 |
BXGD021903 |
cervical cancer |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications |
| C4303860 |
BXGD022569 |
Craniofacial ulnar renal syndrome |
|
| C4551838 |
BXGD023417 |
Talipes transversoplanus |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |