FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term osteogenesis imperfecta type 18 ID (Ontology) DOID:0111848 (Human Disease)
Definition 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.
Also Known As "OI18" ; "osteogenesis imperfecta, type XVIII"
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 Genes
 osteogenesis imperfecta type 18       1
 for disease ribbon | osteogenesis imperfecta type 18       1
 model of | osteogenesis imperfecta type 18       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
osteochondrodysplasia            |
 |__osteogenesis imperfecta______|
                                 osteogenesis imperfecta type 18  1 rec.
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Is a autosomal recessive disease
osteogenesis imperfecta
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Synonyms
  • "OI18" EXACT OMO:0003012
    "osteogenesis imperfecta, type XVIII" EXACT
Secondary IDs
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MIM:617952