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DO Term : osteogenesis imperfecta [DOID:12347] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
  • synonyms:
  • ICD9CM:756.51,
  • Vrolik's disease,
  • OMIM:PS166200,
  • PS166200,
  • DOID:14708,
  • Lobstein's syndrome,
  • SNOMEDCT_US_2023_03_01:254109004,
  • ORDO:666,
  • UMLS_CUI:C0029434,
  • Fragilitas ossium,
  • ICD10CM:Q78.0,
  • MESH:D010013,
  • NCI:C26837,
  • GARD:1017,
  • brittle bone disease,
  • Osteopsathyrosis
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents