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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.
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
The text was updated successfully, but these errors were encountered:
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
The text was updated successfully, but these errors were encountered: