New Term Request: Autosomal recessive intellectual developmental disorder 82

[vjenkinsFB]

I'd like to request a term for autosomal recessive intellectual developmental disorder 82.

OMIM: https://omim.org/entry/620779

Potential definition: Autosomal recessive intellectual developmental disorder 82 has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12.

Potential parent term: autosomal recessive intellectual developmental disorder

Synonyms: Intellectual developmental disorder, autosomal recessive 82

ClinVar search term: NSUN6[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/CN377626

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23529

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/37905873/ Knight HM, Demirbugen Öz M, PerezGrovas-Saltijeral A. Dysregulation of RNA modification systems in clinical populations with neurocognitive disorders. Neural Regen Res. 2024;19(6):1256-1261. doi:10.4103/1673-5374.385858

FlyBase paper(s) to curate with this term: FBrf0257531

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

[csbjohnson]

Hi @vjenkinsFB,

Thank you for your request . We'll review your new term request for autosomal recessive intellectual developmental disorder 82.

Best, Claudia Marie Sánchez-Beato Johnson

[csbjohnson]

Hi @vjenkinsFB,

I have added autosomal recessive intellectual developmental disorder 82, and it will be reflected in the next Disease Ontology Release.

Have a great day!

[vjenkinsFB]

Thank you @csbjohnson !