About: osteogenesis imperfecta type 2

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease osteogenesis imperfecta nodeID://b50942917
label	osteogenesis imperfecta type 2
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110341
database_cross_reference	GARD:10142 ICD10CM:Q78.0 OMIM:166210
has_exact_synonym	OI2 (en) Vrolik type of osteogenesis imperfecta (en) osteogenesis imperfecta type II (en) perinatal lethal osteogenesis imperfecta congenita (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942918

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