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encyclopedia of Rare Disease Annotation for Precision Medicine

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	chondroblastoma

Disease ID	1505
Disease	chondroblastoma
Definition	A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)
Synonym	[m]chondroblastoma nos [m]chondroblastoma nos (morphologic abnormality) chondroblastoma (morphologic abnormality) chondroblastoma [disease/finding] chondroblastoma morphology chondroblastoma of bone chondroblastoma of bone (disorder) chondroblastoma, nos chondroblastomas chondromatous giant cell tumor chondromatous giant cell tumour codman's tumor codman's tumour
DOID	DOID:2649
UMLS	C0008441
MeSH	D002804
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0017525 \| giant cell tumor \| 2 C0026764 \| myeloma \| 1 C0334605 \| meningothelial meningioma \| 1 C0153676 \| lung metastases \| 1 C0002448 \| adamantinoma \| 1 C0259779 \| fibrous dysplasia \| 1 C0017525 \| giant cell tumors \| 1 C0025286 \| meningioma \| 1 C0153676 \| pulmonary metastasis \| 1 C0936248 \| chondroma \| 1 C0008479 \| chondrosarcoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3021 \| H3F3B \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:42) 176 \| ACAN \| 2.44 \| DISEASES 71 \| ACTG1 \| 2.113 \| DISEASES 55107 \| ANO1 \| 2.641 \| DISEASES 546 \| ATRX \| 1.31 \| DISEASES 54880 \| BCOR \| 2.007 \| DISEASES 632 \| BGLAP \| 1.703 \| DISEASES 114899 \| C1QTNF3 \| 2.153 \| DISEASES 800 \| CALD1 \| 2.952 \| DISEASES 875 \| CBS \| 2.409 \| DISEASES 9332 \| CD163 \| 1.923 \| DISEASES 1284 \| COL4A2 \| 2.249 \| DISEASES 64764 \| CREB3L2 \| 1.65 \| DISEASES 100288687 \| DUX4 \| 2.182 \| DISEASES 653545 \| DUX4L5 \| 2.182 \| DISEASES 2131 \| EXT1 \| 1.598 \| DISEASES 7430 \| EZR \| 1.176 \| DISEASES 221937 \| FOXK1 \| 2.287 \| DISEASES 3020 \| H3F3A \| 5.264 \| DISEASES 8337 \| HIST2H2AA3 \| 1.374 \| DISEASES 8338 \| HIST2H2AC \| 1.374 \| DISEASES 8349 \| HIST2H2BE \| 1.082 \| DISEASES 3339 \| HSPG2 \| 1.112 \| DISEASES 3418 \| IDH2 \| 2.03 \| DISEASES 4602 \| MYB \| 1.337 \| DISEASES 103164619 \| PCAT2 \| 2.537 \| DISEASES 5236 \| PGM1 \| 1.83 \| DISEASES 728378 \| POTEF \| 2.001 \| DISEASES 5745 \| PTH1R \| 3.07 \| DISEASES 5744 \| PTHLH \| 1.528 \| DISEASES 860 \| RUNX2 \| 2.281 \| DISEASES 6273 \| S100A2 \| 2.219 \| DISEASES 6280 \| S100A9 \| 2.289 \| DISEASES 5265 \| SERPINA1 \| 1.114 \| DISEASES 12 \| SERPINA3 \| 2.479 \| DISEASES 23583 \| SMUG1 \| 1.106 \| DISEASES 6736 \| SRY \| 1.751 \| DISEASES 7033 \| TFF3 \| 1.498 \| DISEASES 8792 \| TNFRSF11A \| 1.334 \| DISEASES 203068 \| TUBB \| 2.349 \| DISEASES 7280 \| TUBB2A \| 2.594 \| DISEASES 10771 \| ZMYND11 \| 3.16 \| DISEASES 7692 \| ZNF133 \| 3.627 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1505
Disease	chondroblastoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0012062 \| Bone cysts \| 9 HP:0012063 \| Aneurysmal bone cyst \| 9 HP:0002835 \| Aspiration \| 1 HP:0002756 \| Pathologic fracture \| 1 HP:0002664 \| Neoplasia \| 1 HP:0011847 \| Giant cell tumor of bone \| 1 HP:0002858 \| Mengiomia \| 1 HP:0006765 \| Chondrosarcoma \| 1

Disease ID	1505
Disease	chondroblastoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C1608408 \| malignant transformation C0277792 \| pathognomonic sign C0238790 \| bone destruction C0031111 \| periostitis C0017525 \| giant cell tumour C0002793 \| anaplastic change
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C1608408 \| malignant transformation \| 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	1505
Disease	chondroblastoma
Case	(Waiting for update.)

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