Search Ontology:
Human Disease

osteogenesis imperfecta

Term ID
DOID:12347
Synonyms
  • brittle bone disease
  • Fragilitas ossium
  • Lobstein's syndrome
  • Osteopsathyrosis
  • Vrolik's disease
Definition
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (6)
References
  • 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
Ontology
Human Disease   ( DOID:12347 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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