WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111366 familial hepatic adenoma Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31.

1 Ontology

Name
Disease Ontology

20 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:14566 disease of cellular proliferation A disease that is characterized by abnormally rapid cell division.
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:3118 hepatobiliary disease A gastrointestinal system disease that is located_in the liver and/or biliary tract.
DOID:409 liver disease  
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:0060085 organ system benign neoplasm A benign neoplasm that is classified by the organ system from which it is arising from.
DOID:0060072 benign neoplasm A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
DOID:0050624 gastrointestinal system benign neoplasm An organ system benign neoplasm located_in gastrointestinal tract organs.
DOID:3117 hepatobiliary benign neoplasm A gastrointestinal system benign neoplasm located_in the hepatobiliary system.
DOID:0060089 endocrine organ benign neoplasm An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
DOID:657 adenoma A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
DOID:0060084 cell type benign neoplasm A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
DOID:0050868 hepatocellular adenoma A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures.
DOID:916 liver benign neoplasm  
DOID:0111366 familial hepatic adenoma A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31.

19 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050737 DOID:0111366
is_a DOID:0050868 DOID:0111366
is_a DOID:916 DOID:0111366
is_a DOID:7 DOID:0111366
is_a DOID:77 DOID:0111366
is_a DOID:657 DOID:0111366
is_a DOID:0060089 DOID:0111366
is_a DOID:409 DOID:0111366
is_a DOID:0050739 DOID:0111366
is_a DOID:0060072 DOID:0111366
is_a DOID:3117 DOID:0111366
is_a DOID:3118 DOID:0111366
is_a DOID:630 DOID:0111366
is_a DOID:0060084 DOID:0111366
is_a DOID:0060085 DOID:0111366
is_a DOID:0050177 DOID:0111366
is_a DOID:0050624 DOID:0111366
is_a DOID:4 DOID:0111366
is_a DOID:14566 DOID:0111366

1 Synonyms

Name Type
familial liver cell adenomas synonym