National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Deafness due to Connexin 26 Gene Anomaly
Synonyms	Deafness due to Connexin 26 Gene Anomaly
Definitions	Congenital deafness caused by mutations in the gene GJB2 (deafness gene).
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84650
code	C84650
DEFINITION	Congenital deafness caused by mutations in the gene GJB2 (deafness gene).
FULL_SYN	Deafness due to Connexin 26 Gene Anomaly
label	Deafness due to Connexin 26 Gene Anomaly
Preferred_Name	Deafness due to Connexin 26 Gene Anomaly
prefixIRI	Thesaurus:C84650
Semantic_Type	Disease or Syndrome
UMLS_CUI	C2827496
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27644 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/NCIT_C84650	BERO	LOOM