frontotemporal dementia and/or amyotrophic lateral sclerosis

[sabrinatoro]

the following terms include "and/or" concepts, which is unusual in Mondo.

These terms are from OMIM, and are also used in ClinGen

term name	Mondo ID	OMIM ID
frontotemporal dementia and/or amyotrophic lateral sclerosis 1	MONDO:0007105	OMIM:105550
frontotemporal dementia and/or amyotrophic lateral sclerosis 2	MONDO:0014395	OMIM:615911
frontotemporal dementia and/or amyotrophic lateral sclerosis 3	MONDO:0014640	OMIM:616437
frontotemporal dementia and/or amyotrophic lateral sclerosis 4	MONDO:0014641	OMIM:616439
frontotemporal dementia and/or amyotrophic lateral sclerosis 5	MONDO:0030875	OMIM:619141
frontotemporal dementia and/or amyotrophic lateral sclerosis 6	MONDO:0013501	OMIM:613954
frontotemporal dementia and/or amyotrophic lateral sclerosis 7	MONDO:0010936	OMIM:600795
frontotemporal dementia and/or amyotrophic lateral sclerosis 8	MONDO:0030872	OMIM:619132

Questions:

• why are the "frontotemporal dementia" and "amyotrophic lateral sclerosis" concepts grouped together under one main and/or concept?
• are there concepts for "frontotemporal dementia" and "amyotrophic lateral sclerosis" for each type/affected gene?
• what should be the classification for these terms? (neither "frontotemporal dementia" nor "amyotrophic lateral sclerosis" parent is not correct in the case of "or")

[sabrinatoro]

From meeting with Ada on October 15th, 2024

• For these diseases, the same mutation/variation leads to "frontotemporal dementia", "amyotrophic lateral sclerosis", or both. Therefore the disease should be "and/or". It is a spectrum.

• (ST)The definition for these diseases could be something like: "a neurological disease caused by (specific) mutation in gene X, that is manifested as frontotemporal dementia, amyotrophic lateral sclerosis, or both."

• About classification:

  • (Ada) clinicians would expect to find these diseases (frontotemporal dementia and/or amyotrophic lateral sclerosis) in both the "frontotemporal dementia" branch and the "amyotrophic lateral sclerosis"
  • However, ontologically, these parents are not correct (e.g. if a patient has only the ALS manifestation, it would not be a "frontotemporal dementia")
  • what should we do?

-(ST) we should create a pattern for spectrum of diseases such as these since there are multiple examples in Mondo, and we have been getting a few requests that would fit in this "and/or" category.

[sabrinatoro]

@cmungall could you please share your thoughts on this? specifically regarding the classification. Thank you!