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Mondo Disease Ontology
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MONDO:0014797 & MONDO:0035474 [Merge] #7846

Open kanems opened 5 months ago

kanems commented 5 months ago

Mondo term (ID and Label) MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

Reason for deprecation Appears to be the same concept as OMIM:616843

Term to be merged with MONDO:0014797 lymphatic malformation 6

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sagehrke commented 5 months ago

Dear @kanems, Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!

We have received your ticket and will review it as soon as possible.

If you have any additional information or updates relevant to your inquiry, please add them in a comment on this ticket. Your input is valuable in helping us understand and resolve the issue effectively.

Thank you for your patience and for your contributions to Mondo!

Sincerely, The Mondo Team

sng2140 commented 3 months ago

I request keeping "MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"

Lymphatic Malformation # nomenclature is misleading, and it is a big issue when discussing them clinically. They all have very different genes and different phenotypes as it relates to the lymphatics. Other syndromes, such as glycosylation disorders, are renaming with the gene involved to help distinguish conditions and causes.

In addition, there are non-lymphatic phenotypes in the PIEZO1 AR phenotype.

sng2140 commented 3 months ago

hi @sagehrke I see this is still on your obsoletion list from this month's release notes. Can someone update me on this ticket?

thank you

sabrinatoro commented 3 months ago

Hi @sng2140, Thank you for reaching out! We haven't had a chance to address to this issue yet. This is the reason why this term is still on the obsoletion list (we haven't had a chance to remove it yet). We have however noted your request, and we will remove this term from the obsoletion candidate. Thank you for your patience. Sabrina

sabrinatoro commented 3 months ago

Dear @sng2140, I have looked at these terms, and I have some follow-up questions to determine what to do. But first I want to put your mind at peace and say that if this obsoletion proposal were to moved forward, there would still be a MONDO id to represent the concept, and the ClinGen name for this disease would still be the "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"

In this issue, it is suggested that "lymphatic malformation 6" (MONDO:0014797) and "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis" (MONDO:0035474) represent the same concept, regardless of their name.

From what I found:

Here is my question (to help figure out whether these diseases are the same): To your expert knowledge, and regardless of the name (we can discuss the name separately), are there "Generalized lymphatic dysplasia" that are due to a variation in the PIEZO1 gene that are

Thank you for your help!

sabrinatoro commented 2 months ago

@sng2140 I am following up on this. In order to have the appropriate changes in the upcoming October release, I need information before the end of the week (September 27th, 2024).

Setting the name of the diseases aside, what is different between these 2 concepts?

Are there other "Generalized lymphatic dysplasia" that are due to a variation in the PIEZO1 gene and that are different from the disease reported in OMIM:616843? Please see more details in my comment above. Thank you for your update!