| D000138 |
Acidosis |
A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up. |
Metabolic Acidosis,Acidoses,Acidoses, Metabolic,Acidosis, Metabolic,Metabolic Acidoses |
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| D000141 |
Acidosis, Renal Tubular |
A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS. |
Renal Tubular Acidosis,Renal Tubular Acidosis, Type I,Renal Tubular Acidosis, Type II,Type I Renal Tubular Acidosis,Type II Renal Tubular Acidosis,Acidosis, Renal Tubular, Type I,Acidosis, Renal Tubular, Type II,Autosomal Dominant Distal Renal Tubular Acidosis,Classic Distal Renal Tubular Acidosis,Distal Renal Tubular Acidosis,Proximal Renal Tubular Acidosis,RTA, Classic Type,RTA, Distal Type, Autosomal Dominant,RTA, Gradient Type,RTA, Proximal Type,Renal Tubular Acidosis 1,Renal Tubular Acidosis I,Renal Tubular Acidosis II,Renal Tubular Acidosis, Distal, Autosomal Dominant,Renal Tubular Acidosis, Proximal,Renal Tubular Acidosis, Proximal, with Ocular Abnormalities,Classic Type RTA,Classic Type RTAs,Gradient Type RTA,Gradient Type RTAs,Proximal Type RTA,Proximal Type RTAs,RTAs, Classic Type,RTAs, Gradient Type,RTAs, Proximal Type |
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| D000312 |
Adrenal Hyperplasia, Congenital |
A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. |
Congenital Adrenal Hyperplasia,Hyperplasia, Congenital Adrenal,Adrenal Hyperplasias, Congenital,Congenital Adrenal Hyperplasias,Hyperplasias, Congenital Adrenal |
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