monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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[NTR/gene]Treacher Collins Syndrome caused by mutation in ABC (TEST NOT REAL SUBMISSION) #7807

Closed yshwetar closed 3 months ago

yshwetar commented 3 months ago

Preferred gene-related syndrome label For example: NAA10-related syndrome Treacher Collins Syndrome caused by mutation in ABC

Synonyms ABC Treacher Collins Syndrome ABC related Treacher Collins Syndrome ABC TCS

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

Treacher Collins Syndrome

Definition Please write the definition in the format: Any [parent class] in which the cause of the disease is a mutation in the [gene name] gene. For example: Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.

Any form of Treacher Collins Syndrome in which the cause of the disease is a mutation in the ABC gene.

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

PMID: 837469

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

MONDO: XXXXXX MONDO: XXXXXX

Your nano-attribution (ORCID) or URL for a working group If you don't have an ORCID, you can sign up for one here

ORCID: XXXX-XXXX-XXXX

sagehrke commented 3 months ago

Hi @yshwetar - can this test ticket be closed? Thank you!

yshwetar commented 3 months ago

Yes! Thanks for checking.