WormMine: OntologyRelation

• Relationship: is_a
• Parent Term . Identifier: DOID:0050739
• Child Term . Identifier: DOID:0080038
• Direct: false
• Redundant: false

1 Child Term

• Identifier: DOID:0080038
• Name: pycnodysostosis
• Description: An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.

1 Parent Term

• Identifier: DOID:0050739
• Name: autosomal genetic disease
• Description: A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.