| C0001126 |
BXGD000025 |
Renal tubular acidosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0004775 |
BXGD000290 |
Bartter Disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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 |
| C0015624 |
BXGD001005 |
Fanconi Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0015625 |
BXGD001006 |
Fanconi Anemia |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases |
| C0017638 |
BXGD001132 |
Glioma |
Neoplasms |
| C0017658 |
BXGD001138 |
Glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0017665 |
BXGD001141 |
Membranous glomerulonephritis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases |
| C0017668 |
BXGD001143 |
Focal glomerulosclerosis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0017979 |
BXGD001159 |
Glycosuria |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0018021 |
BXGD001162 |
Goiter |
Endocrine System Diseases |
| C0018965 |
BXGD001258 |
Hematuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0019196 |
BXGD001301 |
Hepatitis C |
Digestive System Diseases; Infections |
| C0020438 |
BXGD001382 |
Hypercalciuria |
Pathological Conditions, Signs and Symptoms |
| C0020461 |
BXGD001395 |
Hyperkalemia |
Nutritional and Metabolic Diseases |
| C0021390 |
BXGD001503 |
Inflammatory Bowel Diseases |
Digestive System Diseases |
| C0022104 |
BXGD001529 |
Irritable Bowel Syndrome |
Digestive System Diseases |
| C0022650 |
BXGD001568 |
Kidney Calculi |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022658 |
BXGD001570 |
Kidney Diseases |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0022661 |
BXGD001572 |
Kidney Failure, Chronic |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0023434 |
BXGD001643 |
Chronic Lymphocytic Leukemia |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases |
| C0026764 |
BXGD001928 |
Multiple Myeloma |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases |
| 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 |
| C0028860 |
BXGD002093 |
Oculocerebrorenal Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases |
| C0029423 |
BXGD002143 |
Cartilaginous exostosis |
Neoplasms; Musculoskeletal Diseases |
| C0029456 |
BXGD002157 |
Osteoporosis |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0032617 |
BXGD002367 |
Polyuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0033687 |
BXGD002415 |
Proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0035078 |
BXGD002505 |
Kidney Failure |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0035091 |
BXGD002507 |
Renal Tubular Transport, Inborn Errors |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0035579 |
BXGD002560 |
Rickets |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C0041349 |
BXGD002920 |
Nephritis, Tubulointerstitial |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0085682 |
BXGD003238 |
Hypophosphatemia |
Nutritional and Metabolic Diseases |
| C0151650 |
BXGD003454 |
Renal fibrosis |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0151723 |
BXGD003466 |
Hypomagnesemia |
Nutritional and Metabolic Diseases |
| C0151747 |
BXGD003471 |
Renal tubular disorder |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0151825 |
BXGD003481 |
Bone pain |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases |
| C0178664 |
BXGD004032 |
Glomerulosclerosis (disorder) |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases |
| C0238621 |
BXGD004947 |
Aminoaciduria |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases |
| C0239937 |
BXGD005008 |
Microscopic hematuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0259783 |
BXGD005221 |
mixed gliomas |
Neoplasms |
| C0268731 |
BXGD006029 |
Renal glomerular disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0271561 |
BXGD006213 |
Somatotropin deficiency |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases |
| C0282201 |
BXGD006799 |
Phosphate Diabetes |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0349588 |
BXGD007933 |
Short stature |
|
| C0392525 |
BXGD008052 |
Nephrolithiasis |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0403720 |
BXGD008308 |
X-linked recessive nephrolithiasis with renal failure |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C0431375 |
BXGD008677 |
Classical Lissencephaly |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases |
| C0543800 |
BXGD009294 |
Idiopathic hypercalciuria |
Pathological Conditions, Signs and Symptoms |
| C0544755 |
BXGD009310 |
Genu varum |
Musculoskeletal Diseases |
| C0555198 |
BXGD009432 |
Malignant Glioma |
Neoplasms |
| C0733682 |
BXGD009968 |
Hypophosphatemic Rickets, X-Linked Dominant |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases |
| C0878681 |
BXGD011387 |
Dent's disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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 |
| C1567741 |
BXGD013414 |
Alport Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases |
| C1611743 |
BXGD013456 |
Familial (FPAH) |
|
| C1704375 |
BXGD013551 |
Hypophosphatemic Rickets |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C1720983 |
BXGD013698 |
Channelopathies |
Pathological Conditions, Signs and Symptoms |
| C1833324 |
BXGD013912 |
Sparse bone trabeculae |
|
| C1833325 |
BXGD013913 |
Thin bony cortex |
|
| C1833329 |
BXGD013916 |
Bulging epiphyses |
|
| C1833331 |
BXGD013917 |
Increased serum 1,25-dihydroxyvitamin D3 |
|
| C1837081 |
BXGD014193 |
Tibial bowing |
Musculoskeletal Diseases |
| C1838662 |
BXGD014334 |
Metaphyseal irregularity |
|
| C1838663 |
BXGD014335 |
Enlargement of the wrists |
|
| C1838664 |
BXGD014336 |
Enlargement of the ankles |
|
| C1839603 |
BXGD014388 |
Proximal tubulopathy |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1839606 |
BXGD014389 |
Low-molecular-weight proteinuria |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1839874 |
BXGD014422 |
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1845167 |
BXGD014722 |
Dent Disease 2 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1845168 |
BXGD014723 |
Hypophosphatemic Rickets, X-Linked Recessive |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases |
| C1845169 |
BXGD014724 |
Renal phosphate wasting |
|
| C1845977 |
BXGD014769 |
X- linked recessive |
|
| C1848336 |
BXGD014919 |
Dent disease 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1854494 |
BXGD015409 |
Slow progression |
|
| C1857395 |
BXGD015701 |
De Toni-Debre-Fanconi Syndrome |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C1858395 |
BXGD015789 |
Tubular atrophy |
|
| C1859461 |
BXGD015895 |
Femoral bowing |
Musculoskeletal Diseases |
| C1865200 |
BXGD016298 |
Delayed epiphyseal ossification |
|
| C1963077 |
BXGD016680 |
Bone Pain, CTCAE 3.0 |
|
| C1969372 |
BXGD016775 |
Tubulointerstitial fibrosis |
|
| C2316810 |
BXGD017030 |
Chronic kidney disease stage 5 |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C2919142 |
BXGD017867 |
Short Stature, CTCAE |
|
| C3536983 |
BXGD019078 |
Familial Hypophosphatemic Rickets |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases |
| C3536984 |
BXGD019079 |
Vitamin D-Resistant Rickets, X-Linked |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases |
| C3540852 |
BXGD019094 |
Rickets, X-Linked Hypophosphatemic |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases |
| C3714756 |
BXGD019429 |
Intellectual Disability |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms |
| C3714796 |
BXGD019434 |
Isolated somatotropin deficiency |
|
| C3805574 |
BXGD019481 |
Increased fracture rate |
|
| C3887650 |
BXGD019911 |
Adult Rickets |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases |
| C4016445 |
BXGD020337 |
NEPHROLITHIASIS, X-LINKED RECESSIVE |
|
| C4023801 |
BXGD021265 |
Fibular bowing |
Musculoskeletal Diseases |
| C4024644 |
BXGD021356 |
Multiple small medullary renal cysts |
|
| C4082764 |
BXGD022093 |
Gastrointestinal infection |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections |
| C4305530 |
BXGD022594 |
Dent disease type 1 |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases |
| C4521256 |
BXGD023058 |
Glomerulopathy Assessment |
|
| C4521759 |
BXGD023067 |
Tubular Atrophy Assessment |
|
| C4554063 |
BXGD023559 |
Bone Pain, CTCAE 5.0 |
|