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seizure merged with epilepsy #295

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cbizon opened this issue Sep 4, 2024 · 3 comments
Open

seizure merged with epilepsy #295

cbizon opened this issue Sep 4, 2024 · 3 comments

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@cbizon
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cbizon commented Sep 4, 2024

HP:0001250 (Seizure) is now part of the MONDO:0005027 (Epilepsy) clique, which is undesirable. I suspect that this is b/c of some UMLS junk.

@cbizon
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cbizon commented Sep 4, 2024

So the HP has synonyms of "Synonyms: Epileptic seizure - Seizures - Epilepsy". So HP thinks that Epilepsy is a synonym of Seizure.

In MONDO there is an equivalence relationship to UMLS:C0014544, and in UMLS there is a relationship from there to HP.

So I guess I'm wondering if maybe this merger is ok from HP's side?

@gaurav gaurav added this to the NodeNorm - needs investigation milestone Sep 5, 2024
@cmungall
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cmungall commented Nov 7, 2024

runoak -i sqlite:obo:hp info HP:0001250 -O obo

id: HP:0001250
name: Seizure
def: "A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [orcid:0000-0002-0736-9199, PMID:15816939]
xref: SNOMEDCT_US:128613002
xref: SNOMEDCT_US:246545002
xref: SNOMEDCT_US:313307000
xref: SNOMEDCT_US:84757009
xref: SNOMEDCT_US:91175000
xref: UMLS:C0014544
xref: UMLS:C0036572
synonym: "Epileptic seizure" EXACT []
synonym: "Seizures" EXACT []
synonym: "Epilepsy" RELATED []
is_a: HP:0012638 ! Abnormal nervous system physiology

strongly recommend not merging based on related syns!

@cbizon
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cbizon commented Nov 7, 2024

Agreed! Though it will be somewhat annoying to figure out how to make that work, because we're getting the mapping from UMLS. Hopefully one of UMLS's impenetrable codes will tell us that the UMLS/HP mapping is a related synonym, but if not then we'll need to probe HP at the same time (bleah).

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