New Term Request: Developmental and epileptic encephalopathy 109

[vjenkinsFB]

I'd like to request a term for developmental and epileptic encephalopathy 109.

OMIM: https://omim.org/entry/620145

Potential definition: Developmental and epileptic encephalopathy 109 has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13.

Potential parent term: developmental and epileptic encephalopathy

Synonyms: DEE109

ClinVar search term: FZR1[gene] AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/CN322562/

MalaCards page: https://www.malacards.org/card/developmental_and_epileptic_encephalopathy_109

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/24824

FlyBase paper(s) to curate with this term: FBrf0253658

My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!

[allenbaron]

Thanks for all the new disease requests Victoria.

Now that we're returning from the Biocuration conference we plan to push to get high priority diseases, including your requests, added to the DO over the next few weeks and to focus more intently on adding diseases over the next few months. Please keep them coming!

[vjenkinsFB]

No rush on these, I'm just trying to get every last request from our existing curation in the system so I don't have to look back through it again. Thank you!

[allenbaron]

This disease has been added (https://github.com/DiseaseOntology/HumanDiseaseOntology/commit/2b4ea09d76aae436ba095d31064f1661b6dce9f4) and will be in the next release as DOID:0070378.