Closed sjm41 closed 4 years ago
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
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
added to the MGI ROBOT spreadsheet
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?
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
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.