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[Merge] IDDM1 and type 1 diabetes mellitus #4892

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maglott opened this issue May 2, 2022 · 4 comments · Fixed by #5025 or #5032
Closed

[Merge] IDDM1 and type 1 diabetes mellitus #4892

maglott opened this issue May 2, 2022 · 4 comments · Fixed by #5025 or #5032
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@maglott
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maglott commented May 2, 2022

Mondo term (ID and Label)
MONDO:0005147/type 1 diabetes mellitus
MONDO:0009100/IDDM 1

Reason for deprecation
I don't see any definition to justify treating IDDM1 as a subtype of type 1 diabetes mellitus. I know that OMIM treats IDDM1 as an included title for T1D, but I am not certain of the distinction. There are papers that seem to treat these as the same entity.
https://pubmed.ncbi.nlm.nih.gov/15505007/. Should these be lumped?

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@maglott
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maglott commented May 2, 2022

I should have done one more lookup i guess. I see that IDDM1 is the subset based on the MHC.
https://www.nature.com/articles/6363875; maybe that could be added to the definition, and the xrefs/synonyms be cleaned up accordingly.

@nicolevasilevsky nicolevasilevsky added this to the June release milestone May 2, 2022
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@sabrinatoro could you review this ticket?

I think these are the action items, let me know if you agree:

It seems like this class is equiv to OMIM:222100 and I think this Mondo class is referring to an included entry in OMIM:222100:
name: DIABETES MELLITUS, INSULIN-DEPENDENT, 1, INCLUDED
synonym: IDDM1

  • I think that 'insulin-dependent diabetes mellitus 1' is a separate class (it is currently a synonym in Mondo, it is an 'included' entry in OMIM) and should be a new class in Mondo
  • 'type 1 diabetes mellitus' should be a broad synonym
  • 'diabetes mellitus, insulin-dependent' should be a narrow synonym
  • 'diabetes mellitus, type 1' should be a narrow synonym
  • 'IDDM' should be a narrow synonym
  • 'IDDM1' should be an exact synonym
  • 'juvenile-onset diabetes' should be a narrow synonym
  • Proposed definition of IDDM1: Any type 1 diabetes mellitus that is caused by variation in genes located in the MHC complex on chromosome 6p21.3. [dbxref: PMID:12140742]

@nicolevasilevsky nicolevasilevsky added the user request A request from an external user label May 4, 2022
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sabrinatoro commented May 4, 2022

@nicolevasilevsky
I agree with the definition and with "insulin-dependent diabetes mellitus 1" being a separate class. I am not sure to which terms the synonyms above refer.

I think the ontology should be:

  • type 1 diabetes mellitus (MONDO:0005147)

    • Mondo:EquivalentTo : OMIM:222100
    • 'diabetes mellitus, insulin-dependent' should be exact synonym
    • 'IDDM' should be exact synonym
    • 'IDDM1' should be narrow synonym
  • IDDM 1 (MONDO:0009100)

    • is a more specific type 1 diabetes, and should be a child of type 1 diabetes mellitus
    • 'diabetes mellitus, insulin-dependent' should be broad synonym
    • 'IDDM' should be broad synonym
    • OMIM:222100 should/could probably also be Mondo:EquivalentTo (since the omim term seems to include both the "broad" type 1 diabetes, and the more specific IDDM1), however we might have issue of proxi-merge (or reverse proxi-merge).

@sabrinatoro sabrinatoro added this to to do in Sabrina's tickets via automation Jun 9, 2022
sabrinatoro added a commit that referenced this issue Jun 9, 2022
Fixes #4892

@nicolevasilevsky please review carefully to make sure it fits what is in the issue.
Sabrina's tickets automation moved this from to do to Done Jun 10, 2022
nicolevasilevsky pushed a commit that referenced this issue Jun 10, 2022
Fixes #4892

@nicolevasilevsky please review carefully to make sure it fits what is in the issue.

Co-authored-by: Nico Matentzoglu <nicolas.matentzoglu@gmail.com>
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@sabrinatoro I merged the PR b/c I was having trouble viewing your changes on your branch for some reason.

I agree with your suggestions above. Currently OMIM:222100 is equiv to IDDM 1 (MONDO:0009100), I am going to make it relatedTo and make OMIM:222100 equiv to type 1 diabetes mellitus (MONDO:0005147)

Sabrina's tickets automation moved this from Done to in progress Jun 10, 2022
Sabrina's tickets automation moved this from in progress to Done Jun 11, 2022
nicolevasilevsky added a commit that referenced this issue Jun 11, 2022
* revise xefs on 'type 1 diabetes mellitus'

close #4892

* exclude superclasses

and exclude from QC

* move sus terms

exclude QC
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