WormMine: DiseaseOntology DOID:0060977 polycystic liver disease 4 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:0050736	autosomal dominant disease	An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
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:0050770	polycystic liver disease	A liver disease that is characterized by the presence of multiple cysts located_in the liver.
DOID:0060977	polycystic liver disease 4	A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.

WormMine