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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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[NTR] SELENON-related myopathy #1106

Closed mayherpatel closed 4 years ago

mayherpatel commented 4 years ago

Preferred term label: SELENON-related myopathy

Synonyms SEPN1-related myopathy

Definition (free text, please give PubMed ID, if applicable, in format PMID:#######) Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present. (PMID: 12192640)

Parent term (use OLS, or your favorite ontology browser) congenital myopathy (MONDO:0019952)

Your nano-attribution (ORCID)

mayherpatel commented 4 years ago

Hi @nicolevasilevsky this is a request from the ClinGen Congenital Myopathies GCEP. Is there a timeline on when this will be modified?

nicolevasilevsky commented 4 years ago

Hi @mayherpatel I can work on this soon (probably today) but it wouldn't be available until the February release, which should be in early Feb

mayherpatel commented 4 years ago

That sounds good. Thank you!

mayherpatel commented 4 years ago

@nicolevasilevsky Thank you for continuing to work on this! If possible, would you be able to provide an update on when the term can be retrieved from the OLS?

nicolevasilevsky commented 4 years ago

Hi @mayherpatel I believe we'll have a new release of Mondo by the end of the month, and I think OLS is updated in the middle of each month