WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:7
• Child Term . Identifier: DOID:0110093
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0110093
• Name: short-rib thoracic dysplasia 13 with or without polydactyly
• Description: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.

1 Parent Term

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