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[Merge] MONDO:0009453 'immune deficiency disease' #6499

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nicolevasilevsky opened this issue Jul 26, 2023 · 4 comments
Closed

[Merge] MONDO:0009453 'immune deficiency disease' #6499

nicolevasilevsky opened this issue Jul 26, 2023 · 4 comments
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@nicolevasilevsky
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nicolevasilevsky commented Jul 26, 2023

Mondo term (ID and Label)
MONDO:0009453 'immune deficiency disease'

Reason for deprecation
@sabrinatoro can you please review this?

The term above is equiv to this OMIM class: https://omim.org/entry/242850

whereas the term below is equiv to an OMIMPS:
https://www.omim.org/phenotypicSeries/PS300755,PS601495

Maybe it it just best to obsolete the term above? Or rename it? It's very confusing. Or maybe the OMIM term should be the non-heriditary form? It doesn't mention inheritance in the description.

We have acquired immunodeficiency and two inherited classes (those mentioned here) and maybe we need a grouping triad?

Term to be merged with
MONDO:0021094 'immunodeficiency disease'

@sabrinatoro
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@nicolevasilevsky
Here is what I have found:

  • MONDO:0009453 'immune deficiency disease': OMIM:242850 is a VERY old record (1973, reviewed last 2009). And the MESH id refers to this OMIMid.
    I don't know enough about immunodeficiency, but the record suspects IgM deficiency.
    So, I would obsolete this term based on historical reasons.

The questions now are:

  1. Is this term the same as "immunodeficiency disease" (and ie should be merged)?
    I cannot tell that these terms report to the same concept. I don't think for sure (the description in OMIM:242850 seems to describe a disease that is an immunodeficiency disease, but is more specific than the general "immunodeficiency disease". So I personally would lean towards obsoleting MONDO:0009453 instead of merging it.

  2. What should we do with the children of MONDO:0009453?
    Based on here: immunodeficiency (MONDO:0021094) :

  • results from a failure or absence of elements of the immune system, including lymphocytes, phagocytes, and the complement system.
  • have 2 "main" types:
    - primary immunodeficiency = inborn errors of immunity (MONDO:0003778)
    - hereditary, caused by genetic mutation that affect the immune system
    - subdivided into types: T-cell deficiency, B-cell deficiency, both T-cell and B-cell deficiency, complement deficiency, phagocyte deficiency, Immunoglobulin A deficiency.
    - publication
    - secondary immunodeficiency = acquired immunodeficiency (I think)
    - caused by steroid, obesity, AIDS,...
    Therefore, I think the children of the current MONDO:0009453 can be moved to "MONDO:0021094 'immunodeficiency disease'"

@sabrinatoro
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I did not add to the merge list as it is unclear whether we want this term to be merged or obsoleted.

@sabrinatoro sabrinatoro added the Ada/Peter Question for Ada and/or peter label Aug 22, 2023
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Question:
is there a difference between "immune deficiency disease" and "immunodeficiency disease"?

@sabrinatoro
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closing in favor of #7461

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