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retinoblastoma

^ http://purl.obolibrary.org/obo/MONDO_0008380

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 ]

Term info

database cross reference
  • MedDRA:10038916 (Orphanet:790/e)
  • NCIT:C6956 (MONDO:relatedTo)
  • MESH:D012175 (Orphanet:790/e)
  • UMLS:C0035335 (Orphanet:790/e)
  • ICDO:9510/3 (NCIT:C7541)
  • DOID:768 (MONDO:equivalentTo)
  • ONCOTREE:RBL (MONDO:equivalentTo)
  • NCIT:C7541 (MONDO:equivalentTo)
  • GARD:0007563 (MONDO:equivalentTo)
  • SCTID:370967009 (MONDO:equivalentTo)
  • Orphanet:790 (OMIM:180200)
Subsets

ordo_disease

abbreviation
RB1 [ MONDO:Lexical OMIM:180200 ]

abbreviation
RB [ DOID:768 NCIT:C7541 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526

closeMatch

http://identifiers.org/meddra/10038916

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.

exactMatch

http://identifiers.org/mesh/D012175, http://purl.obolibrary.org/obo/DOID_768, http://purl.obolibrary.org/obo/Orphanet_790, http://purl.obolibrary.org/obo/NCIT_C7541, http://identifiers.org/snomedct/370967009, http://linkedlifedata.com/resource/umls/id/C0035335

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015966, http://purl.obolibrary.org/obo/MONDO_0020238

has exact synonym

RB, retinoblastoma, retinoblastoma, malignant, RB - retinoblastoma

has related synonym

Rb, eye cancer, retinoblastoma

id

MONDO:0008380

Term relations

Subclass of: