has material basis in germline mutation in RB1 autosomal dominant disease retinoblastoma hereditary neoplastic syndrome hereditary retinoblastoma https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/9178 https://www.malacards.org/card/familial_retinoblastoma MEDGEN:155869 DOID:4648 NCIT:C8495 GARD:0017544 retinoblastoma, autosomal dominant, somatic mutation retinoblastoma, trilateral, autosomal dominant, somatic mutation familial retinoblastoma OMIM:180200 UMLS:C0751483 RB1-related retinoblastoma predisposition MONDO:0018160 An autosomal dominant disorder caused by pathogenic variants in the RB1 gene, characterized by an increased risk of retinoblastoma in early childhood. Individuals with hereditary retinoblastoma also have an increased risk of developing secondary cancers, such as osteosarcoma, melanoma and carcinomas in childhood and adulthood. Orphanet:357027 hereditary retinoblastoma RB1 hereditary neurological disease