WormMine: DiseaseOntology DOID:0080411 familial adenomatous polyposis 3 Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
DOID:7	disease of anatomical entity	A disease that manifests in a defined anatomical structure.
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:77	gastrointestinal system disease	A disease of anatomical entity that is located_in the gastrointestinal tract.
DOID:0050177	monogenic disease	A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050739	autosomal genetic disease	A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:5295	intestinal disease	A gastrointestinal system disease that is located_in the intestine.
DOID:0050737	autosomal recessive disease	An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:0050424	familial adenomatous polyposis	An intestinal disease that is characterized by predisposition to colon cancer.
DOID:0080411	familial adenomatous polyposis 3	A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13.

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