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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss #7317

Closed icordovaG closed 8 months ago

icordovaG commented 8 months ago

Label

SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss

Synonyms

No response

Synonym type

None

Definition

A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly.

Parent term

complex neurodevelopmental disorder MONDO:0100038

Children term(s)

No response

ORCID Identifier

No response

Website URL

No response

Additional comments

https://clinicalgenome.org/affiliation/40006/

@ErinRiggs

nicolevasilevsky commented 8 months ago

need to add gene

@twhetzel @matentzn I tried to add the gene and the command was taking ages: sh run.sh make refresh-merged (from instructions: https://mondo.readthedocs.io/en/latest/editors-guide/import-terms-for-logical-axioms/)

It didn't used to be so slow, is there a way to address this?

matentzn commented 8 months ago

When did it slow down? It takes much longer since we use the merged workflow, this is expected, but this has been like this for about 6 months?

nicolevasilevsky commented 8 months ago

it's quite possible I haven't run this workflow in the past 6 months...?

It was super slow, it ran for over an hour before I gave up. Is this the new normal?

twhetzel commented 8 months ago

I have not run the import for genes, just taxon, and that took ~2 hours. I gather it would be helpful to add how long this import takes on the Mondo web site so we know that these are long processes and not broken and will eventually finish.

twhetzel commented 8 months ago

@nicolevasilevsky in the meantime, I can also run this to add the gene if you want.

nicolevasilevsky commented 8 months ago

it's the same workflow for genes, so it sounds like I should expect it to take about 2 hours too. Thanks @twhetzel!

twhetzel commented 8 months ago

ok, so it's just a different file that is updated, but all the rest is the same. do you want to run it or should I run it?

nicolevasilevsky commented 8 months ago

I can take care of it, thanks though!