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Standards Ontologies Notations
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
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4913 NTHL1 nth like DNA glycosylase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
18207 Nthl1 nth (endonuclease III)-like 1 (E.coli)
Displaying 1 entry
Gene ID Gene Symbol Description Source
187770 nth-1 Endonuclease III homolog
Displaying all 2 entries
Gene ID Gene Symbol Description Source
851218 NTG1 bifunctional N-glycosylase/AP lyase NTG1
854114 NTG2 bifunctional N-glycosylase/AP lyase NTG2
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: December 9, 2024