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Details on Person osteogenesis imperfecta

Class:Id	Disease:9015256
_displayName	osteogenesis imperfecta
_timestamp	2017-08-09 14:19:19
created	[InstanceEdit:9015242] Varusai, Thawfeek, 2017-08-09
definition	An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
identifier	12347
name	osteogenesis imperfecta
referenceDatabase	[ReferenceDatabase:1247631] DOID
synonym	Lobstein's syndrome Osteopsathyrosis brittle bone disease Fragilitas ossium Vrolik's disease
(disease)	[Pathway:9013594] Disorders of collagen biosynthesis and modifying enzymes [Homo sapiens] [Pathway:9014523] Assembly of abnormal collagen fibrils and other multimeric structures [Homo sapiens] [Reaction:9015565] Defective procollagen type I [Homo sapiens] [Polymerisation:9015568] Formation of defective COL1A1 collagen fibres [Homo sapiens] [Reaction:9015572] Removal of defective COL1A1 fibrillar collagen N - propeptides [Homo sapiens] [BlackBoxEvent:9015574] Secretion of abnormal COL1A1 collagens [Homo sapiens] [Reaction:9015582] Defective procollagen type I bind to form an abnormal procollagen triple helix [Homo sapiens] [Polymerisation:9015584] Formation of defective COL1A1 collagen fibrils [Homo sapiens] [Reaction:9017751] FN1 binds COL1A1-defective collagen types I-V, VII [Homo sapiens] [Pathway:9018067] Abnormal non-integrin membrane-ECM interactions [Homo sapiens] List all 82 refering instances
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No pathways have been reviewed or authored by osteogenesis imperfecta (9015256)