WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:17
• Child Term . Identifier: DOID:0080991
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0080991
• Name: congenital myopathy 1B
• Description: A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.

1 Parent Term

• Identifier: DOID:17
• Name: musculoskeletal system disease
• Description: A disease of anatomical entity that occurs in the muscular and/or skeletal system.