familial adenomatous polyposis 3

Summary
Definition
A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13.
Super Class
autosomal recessive disease familial adenomatous polyposis
Disease Ontology
DOID:0080411
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4913 NTHL1 nth like DNA glycosylase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0006725 Pancreatic adenocarcinoma
HP:0002860 Squamous cell carcinoma
HP:0012539 Non-Hodgkin lymphoma
HP:0002671 Basal cell carcinoma
HP:0009725 Bladder neoplasm
HP:0003003 Colon cancer
HP:0000138 Ovarian cyst
HP:0005227 Adenomatous colonic polyposis
HP:0012114 Endometrial carcinoma
HP:0002858 Meningioma
Displaying 1 entry
Gene ID Gene Symbol Description
4913 NTHL1 nth like DNA glycosylase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025