RTN4IP1-related optic atrophy with or without neurological features

[poppies700]

Preferred gene-related syndrome label
RTN4IP1-related optic atrophy with or without neurological features

Synonyms
RTN4IP1-Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures

Parent term (use OLS, or your favorite ontology browser)
MONDO:0003608

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.

Isolated optic atrophy or optic atrophy with neurological involvement including intellectual disability, ataxia, seizures.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
PMID: 29181510; PMID: 27150940 PMID: 28638143

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

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

[yshwetar]

Hi @poppies700,

Thank you for your submission to MONDO! After reviewing your submission, we were curious if we could create a parent term 'RTN4IP1-related optic atrophy', with two children terms 'RTN4IP1-related optic atrophy with neurological features' and 'RTN4IP1-related optic atrophy without neurological features'. We prefer this arrangement over a singular term having 'with or without' because if a patient is placed under a category, we want it to be true 100% of the time. So in this case, a patient would be categorized entirely as either having, or not having neurological manifestations. And if it is unclear, then the patient can just be categorized broadly as 'RTN4IP1-related optic atrophy'.

Let us know what you think and if there's anything you would like us to clarify. Thanks!

Regards,

Yousif