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The Monarch Initiative Helpdesk
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Is ornithine translocase deficiency an infectious disease? #82

Open colleenXu opened 1 year ago

colleenXu commented 1 year ago

On the page for ornithine translocase deficiency, https://monarchinitiative.org/disease/MONDO:0009393, the "neighbors" popout shows that infectious disease is a neighbor (parent? has_part?).

Screen Shot 2023-07-28 at 7 03 40 PM

Similarly, when starting with the infectious disease page https://monarchinitiative.org/disease/MONDO:0005550, the "neighbors" popout shows ornithine translocase deficiency as a neighbor (child?)

Screen Shot 2023-07-28 at 7 04 38 PM

I'm not an expert on this disease, but it seems to be primarily a genetic disease. Also, when looking at the ontology http://purl.obolibrary.org/obo/MONDO_0009393, I don't seem a link between this disease and infectious disease...

Screen Shot 2023-07-28 at 7 08 26 PM

colleenXu commented 1 year ago

Found together with @lucyzhang95 while discussing what infectious disease info the Monarch website ha

kevinschaper commented 1 year ago

I think this must be something that was broken and then fixed in Mondo a while ago, but is unfortunately frozen in time with the last data release from our V2 stack and won't be fixed until we release our V3 stack. (We're shooting for Aug 30th)

On that site, I'm only seeing syndromic disease and urea cycle disorder or inherited hyperammonemia as super-classes of MONDO:0009393 and no sub-classes.

image

(and happily the relationships are labeled!)