Orphanet Rare Disease Ontology - Osteogenesis imperfecta - Classes | NCBO BioPortal

Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024

Id	http://www.orpha.net/ORDO/Orphanet_666 http://www.orpha.net/ORDO/Orphanet_666
Preferred Name	Osteogenesis imperfecta
Definitions	A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous.
Synonyms	OI Brittle bone disease Glass bone disease Lobstein disease
Type	http://www.w3.org/2002/07/owl#Class

definition_citation	Orphanet
definition	A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous.
label	Osteogenesis imperfecta
prefLabel	Osteogenesis imperfecta
hasDbXref	OMIM:166230 OMIM:615220 ICD-11:LD24.K0 OMIM:610915 OMIM:166210 OMIM:166220 UMLS:C0029434 OMIM:259440 OMIM:615066 MedDRA:10031243 OMIM:613848 OMIM:613849 MeSH:D010013 OMIM:259420 OMIM:613982 OMIM:614856 OMIM:619131 OMIM:610968 OMIM:610967 OMIM:610682 OMIM:619795 OMIM:616229 OMIM:166200 ICD-10:Q78.0 OMIM:616507 See more See less
notation	ORPHA:666
alternative_term	OI Brittle bone disease Glass bone disease Lobstein disease
present_in	Latin America AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Ireland AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 6.95 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 7.4 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 8.06 AND has_point_prevalence_range : 1-5 / 10 000 China AND has_point_prevalence_average_value : 0.375 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000 See more See less
part_of	http://www.orpha.net/ORDO/Orphanet_93446
prefixIRI	ORDO:Orphanet_666
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=666
subClassOf	http://www.orpha.net/ORDO/Orphanet_377788 http://www.orpha.net/ORDO/Orphanet_557493
type	http://www.w3.org/2002/07/owl#Class
has_inheritance	Autosomal recessive X-linked recessive Autosomal dominant
has_age_of_onset	All ages
treeView	http://www.orpha.net/ORDO/Orphanet_93446

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