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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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Dravet syndrome blank? #1893

Closed colleenXu closed 4 years ago

colleenXu commented 4 years ago

Mondo term (ID Label)

Bug/Typo/Error description I noticed no genes, phenotypes, publications, etc. for Dravet syndrome. https://beta.monarchinitiative.org/disease/MONDO:0100135 https://monarchinitiative.org/disease/MONDO:0100135

Has it been subsumed in generalized epilepsy with febrile seizures plus? I notice Dravet syndrome is mentioned in the description of this term: https://monarchinitiative.org/disease/MONDO:0018214

nicolevasilevsky commented 4 years ago

@colleenXu are you referring to the Monarch page? https://monarchinitiative.org/disease/MONDO:0100135

@kshefchek could you help?

kshefchek commented 4 years ago

@colleenXu do you know the OMIM and/or Orphanet ids for Dravet syndrome? This is likely where we'll find the gene and phenotype data. Possibly https://monarchinitiative.org/disease/MONDO:0100079

nicolevasilevsky commented 4 years ago

@kshefchek https://www.omim.org/entry/607208 has Dravet syndrome as a synonym, but we split Dravet syndrome from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6

there was a lot of discussion about it on: https://github.com/monarch-initiative/mondo/issues/1835 https://github.com/monarch-initiative/mondo/issues/1637 https://github.com/monarch-initiative/mondo/issues/745 https://github.com/monarch-initiative/mondo/issues/332

I think a lot of the phenotypes are overlapping but the biggest issue between the two diseases pertained to the age of onset.

colleenXu commented 4 years ago

@nicolevasilevsky yes, I'm referring to the Monarch page and what is returned by the API. Perhaps the issue should have been opened elsewhere, like https://github.com/monarch-initiative/helpdesk/issues?

I don't have a strong suggestion for OMIM or Orphanet IDs, and I'm not an expert in this area. However, after reviewing the previous issues, it seems like none of the OMIM IDs are exact equivalents because some cases of Dravet syndrome have unknown genetic cause. I like this article's discussion section of Dravet syndrome and gene-based vs syndrome-based diagnostic labels: https://onlinelibrary.wiley.com/doi/full/10.1111/epi.13889

nicolevasilevsky commented 4 years ago

@colleenXu sorry for the delayed reply. Yes, I think this should be reported on the Monarch GitHub, thanks!

I'm going to close this here.