add new term TMEM63B-related developmental and epileptic encephalopat… #8610
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…hy with anaemia close #8159
nicolevasilevsky
requested review from
sabrinatoro and
twhetzel
as code owners
| @@ -552568,6 +552568,15 @@ is_a: MONDO:0005384 {source="https://orcid.org/0000-0002-4142-7153"} ! focal epi | |||
| is_a: MONDO:0020072 {source="https://www.epilepsydiagnosis.org/syndrome/epilepsy-syndrome-groupoverview.html"} ! childhood-onset epilepsy syndrome | |||
| property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8490" xsd:anyURI | |||
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| [Term] | |||
| id: MONDO:0800503 | |||
| name: TMEM63B-related developmental and epileptic encephalopathy with anaemia | |||
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@nicolevasilevsky I see this term uses the UK spelling of 'anaemia.' I am wondering if it would be best if the term label is 'TMEM63B-related developmental and epileptic encephalopathy with anemia' and an exact synonym 'TMEM63B-related developmental and epileptic encephalopathy with anaemia' with has syn type 'UK spelling synonym' is added?
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good call! I will add this
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updated the label and synonyms
add UK synonyms
katiermullen
approved these changes
Jan 23, 2025
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Thanks @nicolevasilevsky! I approve and will merge this PR.
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…hy with anaemia
close #8159