WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:0050177
• Child Term . Identifier: DOID:0070236
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0070236
• Name: Loeys-Dietz syndrome 5
• Description: A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.

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.