WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:630
• Child Term . Identifier: DOID:0060358
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0060358
• Name: multiple acyl-CoA dehydrogenase deficiency
• Description: An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.

1 Parent Term

• Identifier: DOID:630
• Name: genetic disease
• Description: A disease that has_material_basis_in genetic variations in the human genome.