WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:7
• Child Term . Identifier: DOID:0111242
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0111242
• Name: congenital muscular dystrophy-dystroglycanopathy type A6
• Description: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.

1 Parent Term

• Identifier: DOID:7
• Name: disease of anatomical entity
• Description: A disease that manifests in a defined anatomical structure.