revise synonyms for 'developmental and epileptic encephalopathy, 31A' #8605
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nicolevasilevsky
requested review from
sabrinatoro and
twhetzel
as code owners
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@nicolevasilevsky I left some comments for you. Some of them are for my own knowledge. Thank you so much!
| @@ -558450,6 +558452,7 @@ name: developmental and epileptic encephalopathy, 31B | |||
| def: "Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene." [https://orcid.org/0000-0002-0587-4693, OMIM:620352] | |||
| subset: gard_rare {source="MONDO:GARD"} | |||
| subset: rare | |||
| synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [OMIM:620352] | |||
| synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [https://orcid.org/0000-0001-9310-0163] | |||
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Perhaps combine these above two lines?
Also this syn was not requested in the ticket, but I did find that OMIM lists the syn DEE31B.
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@nicolevasilevsky what do you think about adding the exact syn DEE31B to this term for completeness? Source is OMIM:620352.
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great idea, will do
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this is ready for re-review @katiermullen |
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@nicolevasilevsky I approve this PR. I just wonder if the exact syn DEE31B should be added to term MONDO:0957248 before merging? Thank you for all of your work on these issues!
| @@ -558450,6 +558452,7 @@ name: developmental and epileptic encephalopathy, 31B | |||
| def: "Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene." [https://orcid.org/0000-0002-0587-4693, OMIM:620352] | |||
| subset: gard_rare {source="MONDO:GARD"} | |||
| subset: rare | |||
| synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [OMIM:620352] | |||
| synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [https://orcid.org/0000-0001-9310-0163] | |||
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@nicolevasilevsky what do you think about adding the exact syn DEE31B to this term for completeness? Source is OMIM:620352.
close #8019