National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Telomere Syndrome
Synonyms	Telomere Disease Telomere Syndrome Telomere Biology Disorders
Definitions	A group of disorders caused by mutation(s) that disrupt the maintenance of telomeres, resulting in the short telomere defect.
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C152065
code	C152065
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168
Contributing_Source	CTRP
DEFINITION	A group of disorders caused by mutation(s) that disrupt the maintenance of telomeres, resulting in the short telomere defect.
Display_Name	Telomere Syndrome
FULL_SYN	Telomere Disease Telomere Syndrome Telomere Biology Disorders
label	Telomere Syndrome
NCI_META_CUI	CL553398
Preferred_Name	Telomere Syndrome
prefixIRI	Thesaurus:C152065
Semantic_Type	Disease or Syndrome
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0100137	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100137	MONDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C152065	BERO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100137	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0100137	KTAO	LOOM