WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0081394 Caroli syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease.

1 Ontology

Name
Disease Ontology

17 Parents

Identifier Name Description
DOID:178 vascular disease A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart.
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:1287 cardiovascular system disease A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
DOID:77 gastrointestinal system disease A disease of anatomical entity that is located_in the gastrointestinal tract.
DOID:225 syndrome A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
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:4138 bile duct disease A biliary tract disease located_in one or more bile ducts.
DOID:9741 biliary tract disease A hepatobiliary disease that is located_in the biliary tract.
DOID:866 vein disease A vascular disease that is located_in a vein.
DOID:272 hepatic vascular disease A vascular disease that is located_in the liver.
DOID:0081394 Caroli syndrome A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease.

16 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:866 DOID:0081394
is_a DOID:0050737 DOID:0081394
is_a DOID:4138 DOID:0081394
is_a DOID:225 DOID:0081394
is_a DOID:272 DOID:0081394
is_a DOID:4 DOID:0081394
is_a DOID:1287 DOID:0081394
is_a DOID:630 DOID:0081394
is_a DOID:9741 DOID:0081394
is_a DOID:0050739 DOID:0081394
is_a DOID:7 DOID:0081394
is_a DOID:3118 DOID:0081394
is_a DOID:0050177 DOID:0081394
is_a DOID:178 DOID:0081394
is_a DOID:77 DOID:0081394
is_a DOID:409 DOID:0081394

0 Synonyms