Bulk request for new gene related syndrome terms from ClinGen Retina GCEP

[wchankey]

Preferred gene-related syndrome label Please see attached Excel sheet below for 23 proposed gene-related syndrome labels.

Synonyms Please see attached Excel sheet below for synonyms for 23 proposed gene-related syndrome labels.

Parent term (use OLS, or your favorite ontology browser) Please see attached Excel sheet below for parent terms for 23 proposed gene-related syndrome labels.

Definition Please see attached Excel sheet below for definitions for 23 proposed gene-related syndrome labels.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#### ClinGen Retina Gene Curation Expert Panel

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term? Please see attached Excel sheet below for children terms for 23 proposed gene-related syndrome labels.

Your nano-attribution (ORCID) or URL for a working group ORCID ID = 0000-0001-5935-2391 / https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/

Batch_TermRequests_ClinGenRetinaGCEP_07012024.xlsx

[yshwetar]

Hi @wchankey!

A few changes/additions were made in the pull requests above.

For #8144

• Through literature search, found achromatoposia 5 to be a child of new term 'PDE6C-related retinopathy' and was added as so (LSWG curation).

For #8145

• New term submission 'KCNV2-related retinopathy' has an exact synonym of a term already present in MONDO, 'cone dystrophy with supernormal rod response (MONDO:0012475)'. No new term was made, and instead 'KCNV2-related retinopathy' was made an exact synonym of 'cone dystrophy with supernormal rod response (MONDO:0012475)'.
• Through literature search, found retinopathy of prematurity to be a child of new term 'FZD4-related exudative vitreoretinopathy' and was added as so (LSWG curation).

For #8151

• PROM1-related dominant retinopathy and PROM1-related recessive retinopathy were both proposed as new terms. However they both have the same child, cone rod dystrophy 12. A disease can't be a child of the same disease in both the AD and AR states in MONDO. Therefore, we decided to create the parent term PROM1-related retinopahy, with the three children terms: PROM1-related dominant retinopathy, PROM1-related recessive retinopathy, and cone rod dystrophy 12.
• An additional literature search showed fundus albipunctatus to be a child of PRPH2-related retinopathy, and was added as so (LSWG curation).

Let us know your thoughts and if these are appropriate. Thank you!

Yousif