eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| primary hyperoxaluria | ||||
| Disease ID | 776 |
|---|---|
| Disease | primary hyperoxaluria |
| Definition | A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS; NEPHROCALCINOSIS; early onset of RENAL FAILURE; and often a generalized deposit of CALCIUM OXALATE. There are subtypes classified by the enzyme defects in glyoxylate metabolism. |
| Synonym | hyperoxaluria, primary hyperoxaluria, primary [disease/finding] hyperoxalurias, primary oxaluria, primary oxalurias, primary primary hyperoxaluria (disorder) primary hyperoxaluria, nos primary hyperoxalurias primary oxalosis primary oxalosis, nos primary oxaluria primary oxalurias |
| Orphanet | |
| DOID | |
| UMLS | C0020501 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0022661 | end-stage renal failure | 1 C0035078 | renal failure | 1 C0392525 | nephrolithiasis | 1 C0346054 | verruciform xanthoma | 1 C0023890 | liver cirrhosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:28) 55811 | ADCY10 | 4.275 | DISEASES 229 | ALDOB | 1.551 | DISEASES 265 | AMELX | 1.55 | DISEASES 302 | ANXA2 | 1.031 | DISEASES 353 | APRT | 3.526 | DISEASES 846 | CASR | 1.522 | DISEASES 1184 | CLCN5 | 2.487 | DISEASES 1719 | DHFR | 1.249 | DISEASES 2632 | GBE1 | 1.7 | DISEASES 728441 | GGT2 | 1.328 | DISEASES 2821 | GPI | 5.639 | DISEASES 2875 | GPT | 2.016 | DISEASES 54363 | HAO1 | 3.784 | DISEASES 26762 | HAVCR1 | 1.157 | DISEASES 112817 | HOGA1 | 6.818 | DISEASES 8972 | MGAM | 1.092 | DISEASES 4942 | OAT | 3.107 | DISEASES 5091 | PC | 1.776 | DISEASES 23590 | PDSS1 | 1.232 | DISEASES 5830 | PEX5 | 3.023 | DISEASES 5625 | PRODH | 4.684 | DISEASES 29968 | PSAT1 | 2.012 | DISEASES 6023 | RMRP | 2.142 | DISEASES 1757 | SARDH | 2.532 | DISEASES 65010 | SLC26A6 | 2.381 | DISEASES 6569 | SLC34A1 | 2.343 | DISEASES 142680 | SLC34A3 | 3.101 | DISEASES 9760 | TOX | 1.539 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 776 |
|---|---|
| Disease | primary hyperoxaluria |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 776 |
|---|---|
| Disease | primary hyperoxaluria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:23) C1963154 | renal failure C1962966 | retinopathy C1565489 | renal insufficiency C1393529 | vascular complications C1298681 | oxalosis C0730362 | maculopathy C0451641 | urolithiasis C0442874 | neuropathy C0403447 | chronic renal disease C0392525 | nephrolithiasis C0341697 | renal impairment C0029166 | oral manifestations C0027709 | nephrocalcinosis C0026266 | mitral valve regurgitation C0022661 | end-stage renal failure C0022661 | end-stage renal disease C0022661 | end stage renal disease C0022408 | arthropathy C0020676 | hypothyroidism C0017086 | gangrene C0006664 | calcinosis cutis C0006663 | calcinosis C0005940 | bone disease |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 776 |
|---|---|
| Disease | primary hyperoxaluria |
| Case | (Waiting for update.) |