About: osteogenesis imperfecta type 19

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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	X-linked recessive disease osteogenesis imperfecta nodeID://b50945591
label	osteogenesis imperfecta type 19
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111847
database_cross_reference	OMIM:301014
has_exact_synonym	OI19 osteogenesis imperfecta type XIX
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945592

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