WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111685 hereditary mixed polyposis syndrome 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1.

1 Ontology

Name
Disease Ontology

9 Parents

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:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:5295 intestinal disease A gastrointestinal system disease that is located_in the intestine.
DOID:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
DOID:0060429 chromosomal duplication syndrome A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
DOID:0111684 hereditary mixed polyposis syndrome An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated.
DOID:0111685 hereditary mixed polyposis syndrome 1 A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1.

8 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0111684 DOID:0111685
is_a DOID:0060429 DOID:0111685
is_a DOID:0080014 DOID:0111685
is_a DOID:7 DOID:0111685
is_a DOID:630 DOID:0111685
is_a DOID:77 DOID:0111685
is_a DOID:4 DOID:0111685
is_a DOID:5295 DOID:0111685

4 Synonyms

Name Type
chromosome 15q13-q14 duplication syndrome, 40-KB synonym
colorectal adenoma and carcinoma 1 synonym
CRAC1 synonym
HMPS1 synonym