DiseaseID 26578
远端肾小管酸中毒，常染色体显性遗传
Renal Tubular Acidosis, Distal, Autosomal Dominant
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
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Disease: 1Target: 9Links: 9
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26578
- Core Entity Id
- 119146
- Source Entity Count
- 1
- Preferred Name
- Renal Tubular Acidosis, Distal, Autosomal Dominant
- Name Cn
- 远端肾小管酸中毒，常染色体显性遗传
- Name Pinyin
- Yuan Duan Shen Xiao Guan Suan Zhong Du ， Chang Ran Se Ti Xian Xing Yi Chuan
- Name En
- Renal Tubular Acidosis, Distal, Autosomal Dominant
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- 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]
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Renal Tubular Acidosis, Distal, Autosomal Dominant
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1704380
Sym Map
SMDE04156
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
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]