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Question about MONDO:0100062 term definition #8161

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ens-ecibrian opened this issue Sep 13, 2024 · 0 comments
Open

Question about MONDO:0100062 term definition #8161

ens-ecibrian opened this issue Sep 13, 2024 · 0 comments
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user request A request from an external user

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@ens-ecibrian
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We have recently requested some new terms for gene related disorders. One of them is a developmental and epileptic encephalopathy and we have suggested the MONDO:0100062 as a parent term. The first paragraph of the definition is a general description that could apply to any developmental and epileptic encephalopathy. But the second paragraph includes a gene-specific form for patients reported with variants in the GABRB3 gene.

https://www.ebi.ac.uk/ols4/ontologies/mondo/classes/http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0100062

We wanted to ask if there is a plan to split this two definitions, keeping the first paragraph to define a parent term for any gene caused developmental and epileptic encephalopathy, and creating a child term for the GABRB3 gene, as there is a large number of gene specific child terms for MONDO:0100062.

Many thanks

@sagehrke sagehrke added the user request A request from an external user label Sep 30, 2024
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