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hereditary retinoblastoma

^ http://purl.obolibrary.org/obo/MONDO_0018160

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. [ NCIT:C8495 ]

Term info

database cross reference
  • DOID:4648 (MONDO:equivalentTo)
  • Orphanet:357027 (MONDO:equivalentTo)
  • OMIM:180200 (Orphanet:357027)
  • NCIT:C8495 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

abbreviation
RB1 [ OMIM:180200 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526, https://github.com/monarch-initiative/mondo/issues/4521

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.

exactMatch

http://purl.obolibrary.org/obo/DOID_4648, https://omim.org/entry/180200, http://purl.obolibrary.org/obo/Orphanet_357027, http://purl.obolibrary.org/obo/NCIT_C8495

has exact synonym

RB1, retinoblastoma, autosomal dominant, somatic mutation, familial retinoblastoma, retinoblastoma, trilateral, autosomal dominant, somatic mutation, hereditary retinoblastoma

id

MONDO:0018160

Term relations

Equivalent to: