FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term osteogenesis imperfecta ID (Ontology) DOID:12347 (Human Disease)
Definition An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Also Known As "brittle bone disease" ; "Lobstein's syndrome" ; "Osteopsathyrosis" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
Only view relationship: 
bone development disease__
cartilage disease_________|
                          osteochondrodysplasia
                           |__osteogenesis imperfecta  23 rec.
                               |__Cole-Carpenter syndrome 2 rec.
                               |__osteogenesis imperfecta type 1
                               |__osteogenesis imperfecta type 2
                               |__osteogenesis imperfecta type 3
                               |__osteogenesis imperfecta type 4
                               |__osteogenesis imperfecta type 5
                               |__osteogenesis imperfecta type 6 1 rec.
                               |__osteogenesis imperfecta type 7
                               |__osteogenesis imperfecta type 8
                               |__osteogenesis imperfecta type 9 2 rec.
                               |__osteogenesis imperfecta type 10 3 rec.
                               |__osteogenesis imperfecta type 11 3 rec.
                               |__osteogenesis imperfecta type 12 1 rec.
                               |__osteogenesis imperfecta type 13 2 rec.
                               |__osteogenesis imperfecta type 14 2 rec.
                               |__osteogenesis imperfecta type 15 1 rec.
                               |__osteogenesis imperfecta type 16 1 rec.
                               |__osteogenesis imperfecta type 17 1 rec.
                               |__osteogenesis imperfecta type 18 1 rec.
                               |__osteogenesis imperfecta type 19 1 rec.
                               |__osteogenesis imperfecta type 20 1 rec.
                               |__osteogenesis imperfecta type 21 1 rec.
                               |__osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures
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Is a osteochondrodysplasia
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Synonyms
  • "brittle bone disease" EXACT
    "Fragilitas ossium" RELATED
    "Lobstein's syndrome" EXACT
    "Osteopsathyrosis" EXACT
    "Vrolik's disease" EXACT
Secondary IDs
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GARD:1017
ICD10CM:Q78.0
ICD9CM:756.51
MESH:D010013
MIM:PS166200
NCI:C26837
ORDO:666
SNOMEDCT_US_2023_03_01:254109004
UMLS_CUI:C0029434