About: osteogenesis imperfecta type 18

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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 recessive disease osteogenesis imperfecta nodeID://b50945593
label	osteogenesis imperfecta type 18
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111848
database_cross_reference	OMIM:617952
has_exact_synonym	OI18 osteogenesis imperfecta, type XVIII
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945594

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