OBO ID: DOID:12347
Term Name: osteogenesis imperfecta Search Ontology:
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
  • NCI:C26837
  • OMIM:PS166200
  • ORDO:666
  • SNOMEDCT_US_2021_09_01:254109004
  • UMLS_CUI:C0029434
Ontology: Human Disease   (DOID:12347)
OTHER osteogenesis imperfecta PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (8)