WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:4
• Child Term . Identifier: DOID:0111676
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0111676
• Name: high molecular weight kininogen deficiency
• Description: A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene.

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.