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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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RIPOR2 #7747

Open RyanFWebb opened 1 month ago

RyanFWebb commented 1 month ago

autosomal dominant nonsyndromic genetic hearing loss

Synonyms N/A

Parent term (use OLS, or your favorite ontology browser) N/A

Definition Any autosomal dominant nonsyndromic genetic hearing loss in which the cause of the disease is a mutation in the RIPOR2 gene.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######) PMID: 32631815

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term? N/A

Your nano-attribution (ORCID) or URL for a working group ClinGen Hearing Loss GCEP

sagehrke commented 1 month ago

Dear @RyanFWebb, Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!

We have received your ticket and will review it as soon as possible.

If you have any additional information or updates relevant to your inquiry, please add them in a comment on this ticket. Your input is valuable in helping us understand and resolve the issue effectively.

Thank you for your patience and for your contributions to Mondo!

Sincerely, The Mondo Team