eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| giant cell tumor of bone | ||||
| Disease ID | 1367 |
|---|---|
| Disease | giant cell tumor of bone |
| Definition | A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. The tumors range from benign to frankly malignant lesions. The tumor occurs most frequently in an end of a long tubular bone in young adults. (From Dorland, 27th ed; Stedman, 25th ed) |
| Synonym | [m]giant cell tumor of bone nos [m]giant cell tumor of bone nos (morphologic abnormality) [m]giant cell tumour of bone nos benign bone giant cell tumor benign giant cell tumor of bone benign osteoclastic giant cell-rich tumor of bone benign osteoclastic giant cell-rich tumor of the bone bone cell giant tumor bone cell giant tumours bone, giant cell tumor giant cell bone tumor giant cell tumor bone giant cell tumor of bone (disorder) giant cell tumor of bone (morphologic abnormality) giant cell tumor of bone [disease/finding] giant cell tumor of bone, nos giant cell tumor of the bone giant cell tumor, benign giant cell tumour of bone gtct - giant cell tumor of bone osteoclastoma osteoclastoma, benign osteoclastoma, nos osteoclastomas |
| Orphanet | |
| DOID | |
| UMLS | C0206638 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0017525 | giant cell tumor | 10 C0036439 | scoliosis | 1 C0279530 | bone cancer | 1 C1261473 | sarcoma | 1 C0282207 | cronkhite-canada syndrome | 1 C0686619 | lymph node metastases | 1 C0221002 | primary hyperparathyroidism | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1367 |
|---|---|
| Disease | giant cell tumor of bone |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0002756 | Pathologic fracture | 1 HP:0002797 | Increased bone resorption | 1 HP:0002650 | Scoliosis | 1 HP:0012063 | Aneurysmal bone cyst | 1 HP:0011847 | Giant cell tumor of bone | 1 HP:0100242 | Sarcoma | 1 HP:0008200 | Primary hyperparathyroidism | 1 HP:0012062 | Bone cysts | 1 |
| Disease ID | 1367 |
|---|---|
| Disease | giant cell tumor of bone |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms: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) | |
|---|---|
| (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) |
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| (Waiting for update.) |
| Disease ID | 1367 |
|---|---|
| Disease | giant cell tumor of bone |
| Case | (Waiting for update.) |