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Incomplete partition of the cochlea HP:0011373 textual definition and EQ

Open anna-anagnostop opened this issue 4 years ago • 17 comments

While reviewing MP-HPO logical mappings for decreased cochlear coiling MP:0003148 and Incomplete partition of the cochlea HP:0011373 , both EQs were shown to use:

has part some (decreased coiling and (characteristic of some cochlea) and (has modifier some abnormal))

I am uncertain as to whether the HPO textual definition matches the EQ.

Could you please clarify the textual definition for the HPO term so that I can determine if the logical mapping is correct?

In other words, is the formation of the cochlea partition formed by coiling of the cochlea?

Thanks so much,

Anna

anna-anagnostop avatar Mar 17 '22 19:03 anna-anagnostop

I think the EQ is incorrect. @matentzn @LCCarmody do we have a pattern for the incomplete formation of a partition/septum that is normally there and its partial absence is the abnormality?

pnrobinson avatar Mar 17 '22 22:03 pnrobinson

I assigned @rays22 (@pnrobinson @rays22 is our new EQ expert and can be tagged on all EQ related tickets) to respond and help @LCCarmody to determine a solution.

matentzn avatar Mar 18 '22 08:03 matentzn

@rays22 can we touch bases about this?

pnrobinson avatar Sep 05 '22 14:09 pnrobinson

@rays22 can we touch bases about this? Yes. Sorry for my delayed response @pnrobinson. Would you like me to set up a call?

rays22 avatar Sep 28 '22 16:09 rays22

Is this still relevant?

matentzn avatar Jun 05 '23 14:06 matentzn

I have not worked on it. cursory look, the text definition could be expanded, but I don't think the human version of this exactly matches the mouse phenotype. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635626/#:~:text=6%2D%20Incomplete%20Partition%20of%20the,and%20various%20internal%20architecture%20defects.

LCCarmody avatar Jun 05 '23 14:06 LCCarmody

Coming back to this, I do not think it is a great idea to have the logical definition reflect our presumption about the pathophysiology (coiling). We should create a PATO term for incompletely partitioned and use it for MP and HP. @matentzn @rays22 @LCCarmody

pnrobinson avatar Jan 03 '24 07:01 pnrobinson

There is Incomplete structure (PATO:0005013). I am not sure if that would work.

LCCarmody avatar Jan 03 '24 13:01 LCCarmody

I am fine with using either Incomplete structure (PATO:0005013) or a newly created PATO incompletely partitioned quality in the EQ. Let me know if I should create a term request (and a PR) in PATO for incompletely partitioned.

rays22 avatar Jan 03 '24 18:01 rays22

@LCCarmody @rays22 I would favor Incomplete structure because developmental defects like this are extremely complex and it is not going to be possible to model them precisely with OWL.

pnrobinson avatar Feb 22 '24 07:02 pnrobinson

so...something like this? 'has part' some ('Incomplete structure' and ('characteristic of' some cochlea) and ('has modifier' some abnormal))

LCCarmody avatar Feb 22 '24 13:02 LCCarmody

Yes, but we will need to request a new pattern for ‘incomplete structure’ and discuss where it is appropriate to use it. ZP and XPO already use PATO:0005013 , see otolith incomplete structure, abnormal ZP:0022484 and abnormally incomplete structure of forebrain XPO:0115310

anna-anagnostop avatar Feb 22 '24 14:02 anna-anagnostop

I'll create a ticket in uPHENO and we can discuss this at a meeting for specifics.

LCCarmody avatar Feb 22 '24 14:02 LCCarmody

@LCCarmody @anna-anagnostop @rays22 can we move forward with this?

pnrobinson avatar Jun 17 '24 07:06 pnrobinson

@rays22 having trouble importing PATO:0005013 into HP to make this happen.

LCCarmody avatar Jul 12 '24 13:07 LCCarmody

sorry, cut off too soon. Could you help? thanks.

LCCarmody avatar Jul 12 '24 13:07 LCCarmody

Hi @LCCarmody , Here is a PR that is intended to import PATO:0005013 incomplete structure into HP.

rays22 avatar Jul 15 '24 10:07 rays22