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DO Term : osteogenesis imperfecta type 18 [DOID:0111848] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1.
  • synonyms:
  • OMIM:617952,
  • 617952,
  • OI18,
  • osteogenesis imperfecta, type XVIII
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents