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loading...| Preferred Name | OSTEOGENIC SARCOMA | |
| Synonyms |
OSRC OSTEOSARCOMA |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/259500 |
|
| altLabel |
OSRC OSTEOSARCOMA |
|
| cui |
C0029463 |
|
| Gene Locus |
13q14.1-q14.2 |
|
| Gene Symbol |
RB1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU063453 http://purl.bioontology.org/ontology/OMIM/MTHU063452 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
259500 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
OSTEOGENIC SARCOMA |
|
| Scope Statement |
Peak frequency in adolescence [MISCELLANEOUS] Increased incidence of osteosarcoma in retinoblastoma cases with RB1 (614041) mutations [MISCELLANEOUS] Susceptibility conferred by mutation in the tumor protein 53 gene (TP53, 191170.0013) [MOLECULAR BASIS] Susceptibility conferred by mutation in the homolog of the S. pombe checkpoint kinase 2 gene (CHEK2, 604373.0005) [MOLECULAR BASIS] |
|
| tui |
T191 |
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