Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: hearing loss, X-linked 6
Term information
- UMLS:C3806737 (OMIM:300914)
- DOID:0111740 (MONDO:equivalentTo)
- GARD:18097 (OMIM:300914)
- OMIM:300914 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
https://github.com/monarch-initiative/mondo/issues/551
https://github.com/monarch-initiative/mondo/issues/4521
http://linkedlifedata.com/resource/umls/id/C3806737
http://purl.obolibrary.org/obo/DOID_0111740
https://omim.org/entry/300914
deafness, X-linked type 6
DFNX6
deafness, X-linked 6, X-linked recessive
X-linked nonsyndromic deafness caused by mutation in COL4A6
deafness, X-linked 6
COL4A6 X-linked nonsyndromic deafness