WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:0050177
• Child Term . Identifier: DOID:0070118
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0070118
• Name: Meckel syndrome 4
• Description: A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.

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.