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Metadata
ID DOID:12347
Name osteogenesis imperfecta
Definition An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
http://en.wikipedia.org/wiki/Osteogenesis_imperfecta, http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta, http://orthoinfo.aaos.org/topic.cfm?topic=a00051, http://osteogenesisimperfecta.org/, http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/, http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm
Xrefs

GARD:1017

ICD10CM:Q78.0

ICD9CM:756.51

MESH:D010013

NCI:C26837

NCI:C99003

OMIM:PS166200

ORDO:666

SNOMEDCT_US_2019_09_01:385482004

SNOMEDCT_US_2019_09_01:78314001

UMLS_CUI:C0023931

UMLS_CUI:C0029434

Alternateids

DOID:14708

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

brittle bone disease [EXACT]

Fragilitas ossium [RELATED]

Lobstein's syndrome [EXACT]

Osteopsathyrosis [EXACT]

Vrolik's disease [EXACT]

Parent Relationships

is_a osteochondrodysplasia

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