National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Osteogenesis Imperfecta Type II
Synonyms	Osteogenesis Imperfecta Type II
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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99001
code	C99001
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
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.
FULL_SYN	Osteogenesis Imperfecta Type II
label	Osteogenesis Imperfecta Type II
Preferred_Name	Osteogenesis Imperfecta Type II
prefixIRI	Thesaurus:C99001
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0268358
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26837

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/NCIT_C99001	BERO	LOOM
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://purl.bioontology.org/ontology/OMIM/166210	OMIM	LOOM