Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014

Preferred Name	COL1A1 Associated Connective Tissue Disorder
Synonyms
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#COL1A1_Associated_Connective_Tissue_Disorder
DEFINITION	A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis.
isDefinedBy	A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis.
label	COL1A1 Associated Connective Tissue Disorder
prefixIRI	Thesaurus:COL1A1_Associated_Connective_Tissue_Disorder
prefLabel	COL1A1 Associated Connective Tissue Disorder
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hereditary_Connective_Tissue_Disorder

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/NCIT_C75471	BERO	LOOM
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75471	NCIT	LOOM