neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB; 619121)

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Mondo Disease Ontology

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neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB; 619121) #3410

Closed ValWood closed 3 years ago

ValWood commented 3 years ago

HI,

I don't find a term for NEDCASB in MONDO?

https://www.omim.org/entry/138450#molecularGenetics In 5 patients from 4 unrelated families with neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB; 619121), Garcia-Cazorla et al. (2020) identified homozygous or compound heterozygous mutations in the SHMT2 gene (138450.0001-138450.0007).

Thanks Val

nicolevasilevsky commented 3 years ago

Hi @ValWood this is it: MONDO_0030866 'neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities'

Please reopen if anything else is needed

ValWood commented 3 years ago

perfect, thanks. I was searching Monarch, I know I should use OLS but I prefer monarch to check other things and then forget to refer.

ValWood commented 3 years ago

Actually should this term be in Monarch now. I forgot about this ticket and was searching on this term again yesterday.
https://github.com/monarch-initiative/monarch-ui/issues/440

@matentzn was looking at an import problem back in April? https://github.com/monarch-initiative/mondo/issues/3009

Should this term be in Monarch now?

matentzn commented 3 years ago

Hey @ValWood ! We can only really control here what appears in Mondo - Monarch has a much slower update cycle, and its better to use https://github.com/monarch-initiative/helpdesk for questions about https://monarchinitiative.org/

ValWood commented 3 years ago

OK, no worries. I just wanted to check that the earlier problem was fixed and that wasn't the reason I could not find it yet. I thought there had. been a couple of releases, but I. think I am confusing MONDO releases with Monarch releases.

matentzn commented 3 years ago

Thats the one: https://www.ebi.ac.uk/ols/ontologies/mondo/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0030866

ValWood commented 3 years ago

Right, thanks. @nicolevasilevsky Is there any reason that there isn't a superclass "neurodevelopmental disorder" there are lots sitting directly under mendelian disease? It seems like a good superclass candidate? or if "nervous system disorder" should. be a superclass (I can't remember if this was ruled out for some reason?)

nicolevasilevsky commented 3 years ago

Good question! I don't see any reason not to add this term.

@pnrobinson @ahamosh @cmungall please let us know if you have any objections, thanks!

ahamosh commented 3 years ago

Neurodevelopmental disorder should be a superclass under Nervous system disorder.

nicolevasilevsky commented 3 years ago

Thank you @ahamosh!

pnrobinson commented 3 years ago

@ahamosh I wonder if if would be a good idea to use OMIM phenotypic series, such as this https://omim.org/phenotypicSeries/PS309530, to arrange diseases that would be subclasses of a new term called Neurodevelopmental disorder?

sabrinatoro commented 3 years ago

I created a new term "neurodevelopmental disorder". Chidren terms will be added under this new term in #3680

ahamosh commented 3 years ago

Hi @pnrobinson, sorry for the delay. I think that all the IDs (Dominant, recessive and X-linked) could be added under this, but also all the NED* in OMIM. There are many. Happy to discuss this complicated and difficult topic...