search

monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
Creative Commons Attribution 4.0 International
236 stars 53 forks source link

[NTR/gene] #5476

Closed wchankey closed 2 years ago

wchankey commented 2 years ago

Preferred gene-related syndrome label TEK-related primary glaucoma

Synonyms

Parent term (use OLS, or your favorite ontology browser) primary hereditary glaucoma (MONDO:0015485)

Definition Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######) Per criteria outlined by the ClinGen Lumping & Splitting Working Group, the molecular mechanism (loss-of-function) was found to be consistent among patients diagnosed with primary congenital glaucoma-3E (MONDO:0014998, MIM #617272), while their shared phenotypes indicated a spectrum of disease. However, in order to acknowledge the broader spectrum of onset and variable expressivity of the disease entity, this group proposes to remove the term "congenital" and recommend the name TEK-related primary glaucoma.

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term? primary congenital glaucoma-3E (MONDO:0014998)

Your nano-attribution (ORCID) or URL for a working group https://clinicalgenome.org/affiliation/40077/ https://www.clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/

wchankey commented 2 years ago

Thank you for considering this proposed term.