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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C84650
http://purl.obolibrary.org/obo/NCIT_C84650
|
|---|---|
| Preferred Name | Deafness due to Connexin 26 Gene Anomaly |
| Definitions |
Congenital deafness caused by mutations in the gene GJB2 (deafness gene).
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Congenital deafness caused by mutations in the gene GJB2 (deafness gene). |
|---|---|
| label |
Deafness due to Connexin 26 Gene Anomaly
|
| prefLabel |
Deafness due to Connexin 26 Gene Anomaly
|
| Preferred_Name |
Deafness due to Connexin 26 Gene Anomaly
|
| UMLS_CUI |
C2827496
|
| prefixIRI |
NCIT:C84650
|
| subClassOf | |
| code |
C84650
|
| type | |
| Semantic_Type |
Disease or Syndrome
|
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