BMPR1A-related juvenile polyposis syndrome
An autosomal dominant disorder caused by pathogenic variants in the BMPR1A gene characterized by gastrointestinal juvenile polyps and a predisposition to gastrointestinal cancer.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0017380
juvenile polyposis syndrome
is_a
BMPR1A-related juvenile polyposis syndrome
exact