| C0001125 |
BXGD000024 |
Acidosis, Lactic |
Nutritional and Metabolic Diseases |
| C0005745 |
BXGD000331 |
Blepharoptosis |
Eye Diseases |
| C0006142 |
BXGD000374 |
Malignant neoplasm of breast |
Neoplasms; Skin and Connective Tissue Diseases |
| C0010691 |
BXGD000685 |
Cystinuria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0011847 |
BXGD000749 |
Diabetes |
Endocrine System Diseases |
| C0011849 |
BXGD000751 |
Diabetes Mellitus |
Nutritional and Metabolic Diseases; Endocrine System Diseases |
| C0015544 |
BXGD001003 |
Failure to Thrive |
Pathological Conditions, Signs and Symptoms |
| C0015672 |
BXGD001011 |
Fatigue |
Pathological Conditions, Signs and Symptoms |
| C0017636 |
BXGD001131 |
Glioblastoma |
Neoplasms |
| C0017661 |
BXGD001139 |
IGA Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases |
| C0020505 |
BXGD001412 |
Hyperphagia |
Pathological Conditions, Signs and Symptoms |
| C0020538 |
BXGD001422 |
Hypertensive disease |
Cardiovascular Diseases |
| C0020598 |
BXGD001440 |
Hypocalcemia |
Nutritional and Metabolic Diseases |
| C0020615 |
BXGD001445 |
Hypoglycemia |
Nutritional and Metabolic Diseases |
| C0020619 |
BXGD001447 |
Hypogonadism |
Endocrine System Diseases |
| C0022650 |
BXGD001568 |
Kidney Calculi |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0024796 |
BXGD001806 |
Marfan Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases |
| C0026351 |
BXGD001900 |
Moderate intellectual disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C0026827 |
BXGD001936 |
Muscle hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0027651 |
BXGD002009 |
Neoplasms |
Neoplasms |
| C0027707 |
BXGD002024 |
Nephritis, Interstitial |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0027709 |
BXGD002026 |
Nephrocalcinosis |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0030319 |
BXGD002208 |
Panic Disorder |
Mental Disorders |
| C0033377 |
BXGD002406 |
Ptosis |
Pathological Conditions, Signs and Symptoms |
| C0036572 |
BXGD002625 |
Seizures |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0039101 |
BXGD002790 |
synovial sarcoma |
Neoplasms |
| C0041349 |
BXGD002920 |
Nephritis, Tubulointerstitial |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0085580 |
BXGD003191 |
Essential Hypertension |
Cardiovascular Diseases |
| C0155626 |
BXGD003806 |
Acute myocardial infarction |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases |
| C0221354 |
BXGD004446 |
Frontal bossing |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases |
| C0221358 |
BXGD004450 |
Long narrow head |
|
| C0235659 |
BXGD004763 |
Reduced fetal movement |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications |
| C0238506 |
BXGD004941 |
Congenital posterior urethral valves |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0262655 |
BXGD005264 |
Recurrent urinary tract infection |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases |
| C0268643 |
BXGD006021 |
Cystinuria type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0268645 |
BXGD006022 |
Cystinuria, type 3 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0268646 |
BXGD006023 |
Isolated cystinuria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0270971 |
BXGD006146 |
Floppy infant syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0278660 |
BXGD006555 |
Adult Synovial Sarcoma |
Neoplasms |
| C0278878 |
BXGD006609 |
Adult Glioblastoma |
Neoplasms |
| C0279982 |
BXGD006702 |
Childhood Synovial Sarcoma |
Neoplasms |
| C0280474 |
BXGD006748 |
Childhood Glioblastoma |
Neoplasms |
| C0343239 |
BXGD007611 |
Benign congenital hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C0376358 |
BXGD007992 |
Malignant neoplasm of prostate |
Neoplasms; Male Urogenital Diseases |
| C0392525 |
BXGD008052 |
Nephrolithiasis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0451641 |
BXGD008821 |
Urolithiasis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0456070 |
BXGD008863 |
Growth delay |
|
| C0497552 |
BXGD009067 |
Congenital neurologic anomalies |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0524620 |
BXGD009236 |
Metabolic Syndrome X |
Nutritional and Metabolic Diseases |
| C0557874 |
BXGD009444 |
Global developmental delay |
|
| C0566620 |
BXGD009490 |
Nasal voice |
|
| C0596263 |
BXGD009639 |
Carcinogenesis |
Pathological Conditions, Signs and Symptoms; Neoplasms |
| C0678222 |
BXGD009749 |
Breast Carcinoma |
Neoplasms; Skin and Connective Tissue Diseases |
| C0678230 |
BXGD009750 |
Congenital Epicanthus |
|
| C0686353 |
BXGD009833 |
Muscular Dystrophies, Limb-Girdle |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C0699790 |
BXGD009866 |
Colon Carcinoma |
Digestive System Diseases; Neoplasms |
| C0848548 |
BXGD010881 |
hypertensive nephropathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases |
| C1561643 |
BXGD013363 |
Chronic Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1565489 |
BXGD013401 |
Renal Insufficiency |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1621958 |
BXGD013468 |
Glioblastoma Multiforme |
Neoplasms |
| C1836542 |
BXGD014129 |
Depressed nasal bridge |
|
| C1848030 |
BXGD014902 |
Hypotonia-Cystinuria Syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C1850889 |
BXGD015185 |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases |
| C1853738 |
BXGD015357 |
Long eyelashes |
|
| C1857388 |
BXGD015699 |
Cystinuria, Type A |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1857389 |
BXGD015700 |
Cystinuria, Type B |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1857486 |
BXGD015710 |
Low-set, posteriorly rotated ears |
|
| C1861403 |
BXGD016045 |
Variable expressivity |
|
| C1866956 |
BXGD016428 |
Aortic root dilation |
|
| C1867743 |
BXGD016470 |
Premature coronary artery atherosclerosis |
Cardiovascular Diseases |
| C2267233 |
BXGD017017 |
Neonatal Hypotonia |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases |
| C2316810 |
BXGD017030 |
Chronic kidney disease stage 5 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2751582 |
BXGD017726 |
Mitochondrial respiratory chain defects |
|
| C3203102 |
BXGD018555 |
Idiopathic pulmonary arterial hypertension |
Respiratory Tract Diseases |
| C3494422 |
BXGD018966 |
Retrognathia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases |
| C3698119 |
BXGD019365 |
Inherited aminoaciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| C4021733 |
BXGD020741 |
Hyperlysinuria |
|
| C4025602 |
BXGD021688 |
Ornithinuria |
|
| C4025635 |
BXGD021704 |
Argininuria |
|
| C4304537 |
BXGD022579 |
2p21 microdeletion syndrome |
|
| C4479088 |
BXGD022926 |
MYASTHENIC SYNDROME, CONGENITAL, 22 |
|
| C4551858 |
BXGD023425 |
Vesicoureteral Reflux 1 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C4755274 |
BXGD024090 |
Atypical hypotonia cystinuria syndrome |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |