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
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