eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| renal osteodystrophy | ||||
| Disease ID | 763 |
|---|---|
| Disease | renal osteodystrophy |
| Definition | Abnormalities of bone mineral metabolism associated with chronic kidney disease. |
| Synonym | osteodystrophies, renal osteodystrophy renal osteodystrophy, pannephritic osteodystrophy, renal renal bone disease renal disease bone renal osteodystrophies renal osteodystrophy (disorder) renal osteodystrophy nos renal osteodystrophy nos (disorder) rod rod - renal osteodystrophy |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0035086 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0029456 | osteoporosis | 4 C0020503 | secondary hyperparathyroidism | 2 C0020502 | hyperparathyroidism | 2 C0022658 | kidney disease | 1 C0022661 | end stage renal disease | 1 C0026848 | muscular disorders | 1 C0022658 | nephropathy | 1 C0016063 | osteitis fibrosa | 1 C0002871 | anaemia | 1 C0022661 | chronic kidney disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:37) 197 | AHSG | 2.388 | DISEASES 11214 | AKAP13 | 1.166 | DISEASES 567 | B2M | 2.553 | DISEASES 632 | BGLAP | 5.176 | DISEASES 655 | BMP7 | 3.191 | DISEASES 796 | CALCA | 3.76 | DISEASES 846 | CASR | 2.76 | DISEASES 1499 | CTNNB1 | 1.249 | DISEASES 2187 | FANCB | 1.327 | DISEASES 2232 | FDXR | 1.521 | DISEASES 2591 | GALNT3 | 2.711 | DISEASES 8517 | IKBKG | 1.189 | DISEASES 81689 | ISCA1 | 2.464 | DISEASES 10656 | KHDRBS3 | 1.281 | DISEASES 9365 | KL | 3.48 | DISEASES 9735 | KNTC1 | 7.518 | DISEASES 4047 | LSS | 1.19 | DISEASES 56955 | MEPE | 1.051 | DISEASES 8972 | MGAM | 2.524 | DISEASES 4514 | MT-CO3 | 1.605 | DISEASES 79625 | NDNF | 1.331 | DISEASES 55922 | NKRF | 1.162 | DISEASES 387129 | NPSR1 | 1.191 | DISEASES 2649 | NR6A1 | 1.238 | DISEASES 390874 | ONECUT3 | 1.628 | DISEASES 5251 | PHEX | 2.001 | DISEASES 5333 | PLCD1 | 1.783 | DISEASES 29122 | PRSS50 | 1.736 | DISEASES 5745 | PTH1R | 2.963 | DISEASES 5744 | PTHLH | 2.126 | DISEASES 860 | RUNX2 | 1.862 | DISEASES 6424 | SFRP4 | 1.816 | DISEASES 6565 | SLC15A2 | 1.919 | DISEASES 10864 | SLC22A7 | 1.419 | DISEASES 10274 | STAG1 | 1.335 | DISEASES 8792 | TNFRSF11A | 1.817 | DISEASES 7421 | VDR | 2.836 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 763 |
|---|---|
| Disease | renal osteodystrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0000939 | Osteoporosis | 4 HP:0000843 | Hyperparathyroidism | 2 HP:0012622 | Chronic kidney disease | 2 HP:0000867 | Secondary hyperparathyroidism | 2 HP:0012531 | Pain | 1 HP:0000112 | Nephropathy | 1 HP:0003774 | End-stage renal failure | 1 HP:0000938 | Decreased bone mineral density | 1 HP:0002653 | Bone pain | 1 HP:0002797 | Increased bone resorption | 1 HP:0002659 | Increased tendency to fractures | 1 HP:0001903 | Anemia | 1 |
| Disease ID | 763 |
|---|---|
| Disease | renal osteodystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:24) C2598155 | pain C1963077 | bone pain C0238792 | bone lesion C0158288 | lumbar spinal stenosis C0151311 | cranial nerve palsies C0149887 | slipped capital femoral epiphysis C0037944 | spinal stenosis C0037928 | myelopathy C0037926 | spinal cord compression C0030312 | pancytopenia C0029464 | osteosclerosis C0029442 | osteomalacia C0029166 | oral manifestations C0026857 | musculoskeletal disorders C0020503 | secondary hyperparathyroidism C0020502 | hyperparathyroidism C0020437 | hypercalcemia C0016196 | flail chest C0016063 | osteitis fibrosa C0014571 | slipped epiphysis C0014571 | slipped epiphyses C0014544 | epileptic seizure C0005944 | metabolic bone disease C0002726 | amyloidosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0020503 | secondary hyperparathyroidism | 2 C0149887 | slipped capital femoral epiphysis | 1 C0020502 | hyperparathyroidism | 1 C0016063 | osteitis fibrosa | 1 C0030193 | pain | 1 C0151825 | bone pain | 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:1) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 12 | 123101673 | rs6489157 | NM_014708,KNTC1 | ENST00000436959,ENSG00000184445 | ENST00000450485,ENSG00000184445 | ENST00000333479,ENSG00000184445 | NA | NA | NA | NA | LM14,8.7965 | LM22,48.3943 | LM52,2.5186 | LM69,2.0544 | LM84,15.5482 | NA | NA | NA | NA | NA | NA | 0.000 | -0.245 | -1.23 | GE0 | C | NA | NA | NA | NA | NA | NA | NA | NA | Intergenic | DOWNSTREAM | 269 |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 763 |
|---|---|
| Disease | renal osteodystrophy |
| Case | (Waiting for update.) |