WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0070229 intrahepatic cholestasis of pregnancy 3 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.

1 Ontology

Name
Disease Ontology

14 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: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: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:1852 intrahepatic cholestasis A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.
DOID:13580 cholestasis A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.
DOID:0070227 intrahepatic cholestasis of pregnancy An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery.
DOID:0070229 intrahepatic cholestasis of pregnancy 3 An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.

13 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:0070229
is_a DOID:0070227 DOID:0070229
is_a DOID:0050739 DOID:0070229
is_a DOID:3118 DOID:0070229
is_a DOID:13580 DOID:0070229
is_a DOID:0050177 DOID:0070229
is_a DOID:4138 DOID:0070229
is_a DOID:1852 DOID:0070229
is_a DOID:4 DOID:0070229
is_a DOID:7 DOID:0070229
is_a DOID:77 DOID:0070229
is_a DOID:630 DOID:0070229
is_a DOID:9741 DOID:0070229

2 Synonyms

Name Type
ICP3 synonym
pregnancy related cholestasis 3 synonym