WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:17
• Child Term . Identifier: DOID:0112289
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0112289
• Name: spondyloepiphyseal dysplasia tarda with characteristic facies
• Description: A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay.

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.