| D007668 |
Kidney |
Body organ that filters blood for the secretion of URINE and that regulates ion concentrations. |
Kidneys |
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| D002845 |
Chromatography |
Techniques used to separate mixtures of substances based on differences in the relative affinities of the substances for mobile and stationary phases. A mobile phase (fluid or gas) passes through a column containing a stationary phase of porous solid or liquid coated on a solid support. Usage is both analytical for small amounts and preparative for bulk amounts. |
Chromatographies |
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| D005826 |
Genetics, Medical |
A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents. |
Medical Genetics |
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| D000592 |
Amino Acid Metabolism, Inborn Errors |
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. |
Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy |
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| D000596 |
Amino Acids |
Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. |
Amino Acid,Acid, Amino,Acids, Amino |
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| D000608 |
Renal Aminoacidurias |
A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved. |
Aminoaciduria, Renal,Aminoacidurias, Renal,Renal Aminoaciduria |
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| D014556 |
Urine |
Liquid by-product of excretion produced in the kidneys, temporarily stored in the bladder until discharge through the URETHRA. |
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