Biological and Environmental Research Ontology

Last uploaded: December 23, 2022

Preferred Name	Osteogenesis Imperfecta Type II
Synonyms
Definitions	A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities.
ID	http://purl.obolibrary.org/obo/NCIT_C99001
code	C99001
Contributing_Source	Cellosaurus NICHD
definition	A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities.
in_subset	http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C165258 http://purl.obolibrary.org/obo/NCIT_C99147
label	Osteogenesis Imperfecta Type II
Preferred_Name	Osteogenesis Imperfecta Type II
prefixIRI	NCIT:C99001
prefLabel	Osteogenesis Imperfecta Type II
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0268358
subClassOf	http://purl.obolibrary.org/obo/NCIT_C26837

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Mapping To	Ontology	Source
http://www.owl-ontologies.com/NPOntology.owl#osteogenesis_imperfecta_type_II	NATPRO	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Osteogenesis_Imperfecta_Type_II	PEDTERM	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG51400	RCTV2	LOOM
http://purl.bioontology.org/ontology/RCD/PG514	RCD	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Osteogenesis_Imperfecta_Type_II	CSEO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99001	NCIT	LOOM
http://purl.bioontology.org/ontology/OMIM/166210	OMIM	LOOM