hereditary retinoblastoma
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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0008380
retinoblastoma
is_a
MONDO:0015356
hereditary neoplastic syndrome
is_a
MONDO:0100545
hereditary neurological disease
is_a
RB1
exact
RB1-related retinoblastoma predisposition
exact
familial retinoblastoma
exact
hereditary retinoblastoma
exact
retinoblastoma, autosomal dominant, somatic mutation
exact
retinoblastoma, trilateral, autosomal dominant, somatic mutation
exact