01
Diseases
Renal Tubular Acidosis, Distal, Autosomal Dominant
renal tubular acidosis, distal, autosomal dominant
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 6
Basic Information
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Core Information
- Disease Name
- Renal Tubular Acidosis, Distal, Autosomal Dominant
- Standard Disease Name
- renal tubular acidosis, distal, autosomal dominant
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D000141
- OMIM ID
- 179800
- UMLS ID
- C1704380
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_NICHD_1602D:Impairment in renal collecting tubule acid secretion that results in a hypokalemic hyperchloremic metabolic acidosis.|NCI2016_NICHD_1602D:Failure of the renal tubules of the kidney to excrete urine of sufficient acidity, resulting in metabolic acidosis.|NCI2016_02D:Impairment in renal collecting tubule acid secretion that results in a hypokalemic hyperchloremic metabolic acidosis.(NICHD)|NCI2016_02D:Failure of the renal tubules of the kidney to excrete urine of sufficient acidity, resulting in metabolic acidosis.(NICHD)|MSH2017_2016_08_12:The genetic defect is in the anion exchange protein gene SLC4A1 resulting in impaired excretion of hydrogen ions or renal acids in the distal renal tubules.|HPO2016_07_04:A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. [HPO:probinson]
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