Biological and Environmental Research Ontology

Last uploaded: December 23, 2022

Preferred Name	Deafness due to Connexin 26 Gene Anomaly
Synonyms
Definitions	Congenital deafness caused by mutations in the gene GJB2 (deafness gene).
ID	http://purl.obolibrary.org/obo/NCIT_C84650
code	C84650
definition	Congenital deafness caused by mutations in the gene GJB2 (deafness gene).
label	Deafness due to Connexin 26 Gene Anomaly
Preferred_Name	Deafness due to Connexin 26 Gene Anomaly
prefixIRI	NCIT:C84650
prefLabel	Deafness due to Connexin 26 Gene Anomaly
Semantic_Type	Disease or Syndrome
UMLS_CUI	C2827496
subClassOf	http://purl.obolibrary.org/obo/NCIT_C53543 http://purl.obolibrary.org/obo/NCIT_C27644

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Delete	Mapping To	Ontology	Source
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84650	NCIT	LOOM