-
Notifications
You must be signed in to change notification settings - Fork 108
New issue
Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.
By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.
Already on GitHub? Sign in to your account
New Term Request: Hypervalinemia and hyperleucine-isoleucinemia #1318
Comments
Hi @vjenkinsFB, Thank you for your request . We'll review your new term request for Hypervalinemia and hyperleucine-isoleucinemia. Best, |
Thank you Victoria, Cheers, |
Hi @vjenkinsFB, Thank you for your request. I have implemented the addition, and it will be reflected in the next Disease Ontology Release. Have a great day! |
I'd like to request a term for hypervalinemia and hyperleucine-isoleucinemia. This is the first of several terms I am requesting from the first paper cited below on amino acid metabolism disorders, so I’m including some reviews on the topic below that I won’t include in future tickets, because they will probably be relevant to many or all of them. Future tickets will just have links to papers about the specific disease requested and not general reviews on the topic of amino acid metabolic disorders.
OMIM: https://omim.org/entry/618850
Potential definition: Hypervalinemia and hyperleucine-isoleucinemia has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13.
Potential parent term: amino acid metabolic disorder
Synonyms: branched-chain aminotransferase 2 deficiency; HVLI
ClinVar search term: bcat2[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/C5394277
HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:977
Citations other than those in the OMIM entry:
FlyBase paper(s) to curate with this term: FBrf0259145
My contact info: [email protected] (FlyBase), 0000-0002-1567-7626. Thank you!
The text was updated successfully, but these errors were encountered: