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 20 ID (Ontology) DOID:0111849 (Human Disease)
Definition An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1.
Also Known As "OI20" ; "osteogenesis imperfecta type XX"
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 Genes
 osteogenesis imperfecta type 20       1
 for disease ribbon | osteogenesis imperfecta type 20       1
 model of | osteogenesis imperfecta type 20       1
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autosomal genetic disease
 |__autosomal recessive disease__
osteochondrodysplasia            |
 |__osteogenesis imperfecta______|
                                 osteogenesis imperfecta type 20  1 rec.
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Is a autosomal recessive disease
osteogenesis imperfecta
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Synonyms
  • "OI20" EXACT OMO:0003012
    "osteogenesis imperfecta type XX" EXACT
Secondary IDs
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MIM:618644