PedAM
Pediatric Disease Annotations & Medicines
| proximal renal tubular acidosis | ||||
| Disease ID | 1387 |
|---|---|
| Disease | proximal renal tubular acidosis |
| Definition | The genetic defect is in the sodium bicarbonate cotransporter gene SLC4A4 resulting in impaired reabsorption of bicarbonate ions in the proximal renal tubules and bicarbonate-wasting. |
| Synonym | acidosis proximal renal tubular acidosis, renal tubular, type ii bicarbonate reabsorption defect proximal renal tubular acidosis (disorder) proximal rta proximal tubular acidosis proximal type rta proximal type rtas renal tubular acidosis ii renal tubular acidosis proximal renal tubular acidosis proximal fanconi syndrome renal tubular acidosis, proximal renal tubular acidosis, proximal, with ocular abnormalities renal tubular acidosis, rate type renal tubular acidosis, type 2 renal tubular acidosis, type ii rta type ii - type ii renal tubular acidosis rta, proximal type rta, rate type rtas, proximal type type 2 renal tubular acidosis type ii renal tubular acidosis |
| Orphanet | |
| OMIM | |
| UMLS | C0268435 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1387 |
|---|---|
| Disease | proximal renal tubular acidosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 1387 |
|---|---|
| Disease | proximal renal tubular acidosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0020440 | carbon dioxide retention |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |