eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| nephrocalcinosis | ||||
| Disease ID | 1230 |
|---|---|
| Disease | nephrocalcinosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:15) C2697310 | sarcoidosis C1963154 | renal failure C1840333 | hdr syndrome C1384514 | primary aldosteronism C0403447 | chronic kidney disease C0392525 | nephrolithiasis C0221002 | primary hyperparathyroidism C0151723 | hypomagnesemia C0042029 | urinary tract infection C0029434 | osteogenesis imperfecta C0022661 | end-stage renal disease C0022661 | chronic renal failure C0022660 | acute renal failure C0004775 | bartter's syndrome C0004775 | bartter syndrome |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0151723 | hypomagnesemia | 23 C0035078 | renal failure | 5 C0392525 | nephrolithiasis | 4 C1384514 | primary aldosteronism | 2 C0004775 | bartter syndrome | 2 C0022660 | acute renal failure | 1 C0221002 | primary hyperparathyroidism | 1 C0022661 | chronic renal failure | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total 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.) |
| Disease ID | 1230 |
|---|---|
| Disease | nephrocalcinosis |
| Case | (Waiting for update.) |