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. [ NCIT:C7541 ]
Synonyms: RB retinoblastoma retinoblastoma, malignant RB - retinoblastoma
Term information
- MEDGEN:20552 (MONDO:equivalentTo)
- NCIT:C6956 (MONDO:relatedTo)
- ONCOTREE:RBL (MONDO:equivalentTo)
- MedDRA:10038916 (Orphanet:790/e)
- Orphanet:790 (OMIM:180200)
- UMLS:C0035335 (MONDO:equivalentTo)
- NANDO:2200042 (https://orcid.org/0000-0003-0011-764X)
- NCIT:C7541 (MONDO:equivalentTo)
- GARD:7563 (MONDO:GARD)
- MESH:D012175 (Orphanet:790/e)
- icd11.foundation:1855353671 (Orphanet:790)
- SCTID:370967009 (MONDO:equivalentTo)
- ICDO:9510/3 (NCIT:C7541)
- DOID:768 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, orphanet_rare, clingen
http://identifiers.org/mesh/D012175
http://purl.obolibrary.org/obo/DOID_768
http://identifiers.org/medgen/20552
http://www.orpha.net/ORDO/Orphanet_790
http://identifiers.org/snomedct/370967009
http://purl.obolibrary.org/obo/NCIT_C7541
http://linkedlifedata.com/resource/umls/id/C0035335
http://purl.obolibrary.org/obo/MONDO_0015966
http://purl.obolibrary.org/obo/MONDO_0020238
http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql