Peutz-Jeghers syndrome
An autosomal dominant disorder caused by pathogenic variants in the STK11 gene, characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of GI and extra-GI malignancies.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015185
intestinal polyposis syndrome
is_a
Jeghers-Peutz syndrome
exact
PJS
exact
Peutz Jeghers Syndrome
exact
Peutz Jeghers polyposis
related
Peutz's syndrome
exact
Peutz-Jeghers syndrome
exact
STK11-related Peutz-Jeghers syndrome
exact
hamartomatous intestinal polyposis
exact
lentiginosis, perioral
related
periorificial lentiginosis syndrome
related
polyps and spots syndrome
exact