WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:0050177
• Child Term . Identifier: DOID:0080677
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0080677
• Name: otospondylomegaepiphyseal dysplasia, autosomal dominant
• Description: An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene.

1 Parent Term

• Identifier: DOID:0050177
• Name: monogenic disease
• Description: A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.