eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| osteoblastoma | ||||
| Disease ID | 1501 |
|---|---|
| Disease | osteoblastoma |
| Definition | A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue. It occurs frequently in the spine of young persons. (From Dorland, 27th ed; Stedman, 25th ed) |
| Synonym | [m]osteoblastoma fibroma, osteogenic, of bone giant osteoid osteoma giant osteoid osteomas ossifying giant cell tumor osteoblastoma (morphologic abnormality) osteoblastoma [disease/finding] osteoblastoma, benign osteoblastoma, nos osteoblastomas osteoid osteoma, giant osteoid osteomas, giant osteoma, giant osteoid osteomas, giant osteoid |
| Orphanet | |
| DOID | |
| UMLS | C0029417 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:36) 71 | ACTG1 | 2.383 | DISEASES 632 | BGLAP | 1.884 | DISEASES 800 | CALD1 | 3.223 | DISEASES 100506742 | CASP12 | 1.672 | DISEASES 9350 | CER1 | 2.683 | DISEASES 64764 | CREB3L2 | 1.921 | DISEASES 1499 | CTNNB1 | 1.853 | DISEASES 192668 | CYS1 | 2.643 | DISEASES 1649 | DDIT3 | 1.186 | DISEASES 2081 | ERN1 | 2.056 | DISEASES 7430 | EZR | 1.446 | DISEASES 3303 | HSPA1A | 1.476 | DISEASES 83999 | KREMEN1 | 3.54 | DISEASES 51438 | MAGEC2 | 2.501 | DISEASES 4745 | NELL1 | 2.956 | DISEASES 5154 | PDGFA | 1.751 | DISEASES 5155 | PDGFB | 1.2 | DISEASES 5321 | PLA2G4A | 2.101 | DISEASES 728378 | POTEF | 2.272 | DISEASES 5499 | PPP1CA | 2.763 | DISEASES 5501 | PPP1CC | 2.946 | DISEASES 5515 | PPP2CA | 2.468 | DISEASES 5742 | PTGS1 | 1.373 | DISEASES 5743 | PTGS2 | 1.997 | DISEASES 862 | RUNX1T1 | 1.745 | DISEASES 860 | RUNX2 | 1.064 | DISEASES 23583 | SMUG1 | 1.752 | DISEASES 6696 | SPP1 | 1.541 | DISEASES 6794 | STK11 | 1.25 | DISEASES 117145 | THEM4 | 2.521 | DISEASES 83857 | TMTC1 | 2.496 | DISEASES 203068 | TUBB | 2.62 | DISEASES 7280 | TUBB2A | 2.865 | DISEASES 8408 | ULK1 | 2.072 | DISEASES 7692 | ZNF133 | 3.897 | DISEASES 84133 | ZNRF3 | 3.179 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1501 |
|---|---|
| Disease | osteoblastoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0012062 | Bone cysts | 6 HP:0012063 | Aneurysmal bone cyst | 6 HP:0100246 | Osteoma | 3 HP:0012531 | Pain | 1 HP:0002664 | Neoplasia | 1 HP:0001730 | Progressive hearing impairment | 1 |
| Disease ID | 1501 |
|---|---|
| Disease | osteoblastoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1608408 | malignant transformation |
| 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) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1501 |
|---|---|
| Disease | osteoblastoma |
| Case | (Waiting for update.) |