WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:655
• Child Term . Identifier: DOID:3651
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:3651
• Name: pyruvate carboxylase deficiency disease
• Description: A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.

1 Parent Term

• Identifier: DOID:655
• Name: inherited metabolic disorder
• Description: A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.