WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:4
• Child Term . Identifier: DOID:0111066
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0111066
• Name: congenital bile acid synthesis defect 5
• Description: A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.

1 Parent Term

• Identifier: DOID:4
• Name: disease
• Description: 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.