New term request for OMIM 618456 (DFNB114)

[sjm41]

Can you create an entry for: DEAFNESS, AUTOSOMAL RECESSIVE 114; DFNB114 https://www.omim.org/entry/618456

Will be child of: DOID:0050565 autosomal recessive nonsyndromic deafness

Need it to accurately curate disease model in PMID: 30610177

Thanks.

[tutajm]

And it will be really great if you consider adding similar related new terms as well:

DFNB57 OMIM:618003 DFNB94 OMIM:618434 DFNB99 OMIM:618481 DFNB100 OMIM:618422 DFNB109 OMIM:618013 DFNB110 OMIM:618094 DFNB111 OMIM:618145 DFNB112 OMIM:618257 DFNB113 OMIM:618410 DFNB114 OMIM:618456 (requested in the ticket) DFNB115 OMIM:618457

Benefit: by adding these, you will have a complete set of OMIM-based terms in 'autosomal recessive nonsyndromic deafness' parent term!

Thank you, Marek

[sbello]

Will do Marek, thanks for identifying these. It is my practice to check the full OMIM series whenever adding a member of the series to identify and add any other members that were created since the last review. Best regards, Sue

[sbello]

added to the MGI ROBOT spreadsheet

[sjm41]

One other question: The authors of PMID: 30610177 use the terms "sensorineural hearing loss" ( = DOID:10003) and "autosomal recessive nonsyndromic deafness" (= DOID:0050565) to refer to the described deafness. But those two DO terms appear to be unrelated in the DO. Should they have some kind of relationship?

[sbello]

I think this has more to do with the line between phenotype and disease. The term ""sensorineural hearing loss" is also found in the MP (MP:0004740) and HPO (HP:0000407) as a phenotype since it describes a type of hearing loss. Not all "autosomal recessive nonsyndromic deafness" may necessarily be due to sensorineural hearing loss. @melodyswen @lschriml this might be another example to bring up during the workshop at Biocuration in May