WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:0050739
• Child Term . Identifier: DOID:0070427
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0070427
• Name: combined oxidative phosphorylation deficiency 54
• Description: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13.

1 Parent Term

• Identifier: DOID:0050739
• Name: autosomal genetic disease
• Description: A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.