[Merge] MONDO:0034099 'SYNGAP1-related developmental and epileptic encephalopathy'

[nicolevasilevsky]

Mondo term (ID and Label)
MONDO:0034099 'SYNGAP1-related developmental and epileptic encephalopathy'

Reason for deprecation
Orphanet cross-references OMIM:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5; MRD5
https://omim.org/entry/612621

Term to be merged with
MONDO:0012960 'intellectual disability, autosomal dominant 5'

@ahamosh do you think these two terms are equivalent? The OMIM term is not in the DEE phenotypic series, but according to the Orphanet label (SYNGAP1-related developmental and epileptic encephalopathy), it seems like it should be?

[nicolevasilevsky]

Discussing with Ada on domain experts call (2024-11-19) - sounds like this is a DEE according to recent literature. Ada will update this in OMIM in due time.

See:
Kim HJ, Kim M, Jang S, Cho JS, Kim SY, Cho A, Kim H, Lim BC, Chae JH, Choi J, Kim KJ, Kim W. SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights. Am J Med Genet A. 2024 Aug;194(8):e63606. doi: 10.1002/ajmg.a.63606. Epub 2024 Apr 2. PMID: 38563110.

Felix AJ, Wilson T, Randell R, Marotta N, Uchida K, Boland MJ, Davidson BL, Prosser BL. Generation of humanized mouse models to support therapeutic development for SYNGAP1 and STXBP1 disorders. bioRxiv [Preprint]. 2024 Aug 22:2024.08.22.609238. doi: 10.1101/2024.08.22.609238. PMID: 39229131; PMCID: PMC11370588.

[nicolevasilevsky]

@sabrinatoro can you please add this to the obsoletion list for an obsoletion tag to be added before the next release? Thanks!