loading...| Preferred Name | hereditary retinoblastoma | |
| Synonyms |
retinoblastoma, trilateral, autosomal dominant, somatic mutation RB1 familial retinoblastoma retinoblastoma, autosomal dominant, somatic mutation hereditary retinoblastoma |
|
| Definitions |
An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018160 |
|
| altLabel |
retinoblastoma, trilateral, autosomal dominant, somatic mutation RB1 familial retinoblastoma retinoblastoma, autosomal dominant, somatic mutation hereditary retinoblastoma |
|
| definition |
An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. |
|
| has_exact_synonym |
retinoblastoma, trilateral, autosomal dominant, somatic mutation RB1 familial retinoblastoma retinoblastoma, autosomal dominant, somatic mutation hereditary retinoblastoma |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 |
|
| label |
hereditary retinoblastoma |
|
| prefixIRI |
MONDO:0018160 |
|
| prefLabel |
hereditary retinoblastoma |
|
| textual definition |
An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. |
|
| subClassOf |