search

monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
Creative Commons Attribution 4.0 International
223 stars 51 forks source link

AFG3L2-related optic atrophy and/or ataxia #7826

Open wchankey opened 1 week ago

wchankey commented 1 week ago

Preferred gene-related syndrome label AFG3L2-related optic atrophy and/or ataxia

Synonyms N/A

Parent term (use OLS, or your favorite ontology browser) hereditary optic atrophy (https://www.ebi.ac.uk/ols4/ontologies/mondo/classes/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0043878?lang=en) mitochondrial DNA depletion syndrome (https://www.ebi.ac.uk/ols4/ontologies/mondo/classes/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0018158?lang=en) autosomal recessive spastic ataxia (https://www.ebi.ac.uk/ols4/ontologies/mondo/classes/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FMONDO_0017847?lang=en)

Definition Any optic atrophy and/or ataxia in which the cause of the disease is a heterozygous variant or biallelic variants in the AFG3L2 gene.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######) PMID:32219868

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term? optic atrophy 12 (MONDO:0033549) spastic ataxia 5 (MONDO:0013776)

Your nano-attribution (ORCID) or URL for a working group Glaucoma and Neuro-Ophthalmology Gene Curation Expert Panel (https://clinicalgenome.org/affiliation/40077/#:~:text=The%20Glaucoma%20and%20Neuro%2DOphthalmology,includes%20inherited%20optic%20atrophies%2Fneuropathies.)

AFG3L2_evidence_summary.docx

sagehrke commented 1 week ago

Dear @wchankey, 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

wchankey commented 1 week ago

Thank you Sarah! I'll don't have any additional info or updates to add at the moment, but appreciate the chance to add them to this ticket if anything comes up. I'll also be happy to research anything or be a contact person if you think of any questions for the ClinGen Glaucoma and Neuro-Ophthalmology GCEP. Thanks for your message and your time to consider this request!