loading...| Preferred Name | retinoblastoma | |
| Synonyms |
RB1 eye cancer, retinoblastoma Rb retinoblastoma, malignant retinoblastoma RB - retinoblastoma RB |
|
| Definitions |
A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also 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_0008380 |
|
| closeMatch | ||
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0008380 |
|
| database_cross_reference |
ICDO:9510/3 ONCOTREE:RBL Orphanet:790 MEDGEN:20552 MedDRA:10038916 MESH:D012175 UMLS:C0035335 SCTID:370967009 icd11.foundation:1855353671 NANDO:2200042 DOID:768 GARD:7563 NCIT:C6956 NCIT:C7541 |
|
| definition |
A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. |
|
| disease has location | ||
| exactMatch |
http://identifiers.org/medgen/20552 http://identifiers.org/snomedct/370967009 http://purl.obolibrary.org/obo/NCIT_C7541 http://linkedlifedata.com/resource/umls/id/C0035335 http://purl.obolibrary.org/obo/Orphanet_790 http://identifiers.org/mesh/D012175 http://purl.obolibrary.org/obo/DOID_768 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1855353671 |
|
| has_exact_synonym |
retinoblastoma, malignant retinoblastoma RB - retinoblastoma RB |
|
| has_narrow_synonym |
RB1 |
|
| has_related_synonym |
eye cancer, retinoblastoma Rb |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 |
|
| id |
MONDO:0008380 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
retinoblastoma |
|
| notation |
MONDO:0008380 |
|
| preferred label |
retinoblastoma |
|
| prefLabel |
retinoblastoma |
|
| subClassOf | ||
| excluded_subClassOf |