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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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Several issues #7641

Open galyea123 opened 7 months ago

galyea123 commented 7 months ago

Hi Sabrina! Following your suggestions I included several issues in the same document for this week:

Duplicated term “Weiss-kruszka syndrome” MONDO:0032836 is duplicated with “metopic ridging-ptosis-facial dysmorphism syndrome” MONDO:0044715 Please merge and add the respective synonyms.

TAG the following condition as NORD rare and add synonym Condition: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities MONDO:0859190 Synonyms: NECRC, ZMYM2-related neurodevelopmental disorder with multiple anomalies

ADD a term We have a request to write a report about disorders related to DNM1 which will be entitled: "DNM1-Encephalopathy and Neurodevelopmental Disorder". OMIM list two conditions related to the DNM1 gene mutations: Developmental and epileptic encephalopathy 31A, autosomal dominant and Developmental and epileptic encephalopathy 31B, autosomal recessive. I only found developmental and epileptic encephalopathy 31B in MONDO. MONDO:0957248 I did not find the subtype 31A. Our request is to add the subtype “developmental and epileptic encephalopathy 31A" and tag NORD in both subtypes as rare as well to include the respective synonyms: Developmental and epileptic encephalopathy 31A, autosomal dominant Developmental and epileptic encephalopathy 31B, autosomal recessive NOTE: Our report in NORD entitled “DNM1-Encephalopathy and Neurodevelopmental Disorder” which will include both subtypes and therefore can be include as a broad synonym too.

Please let me know if this way is better or if you would rather I made a ticket for each issue.

Thank you,

Gioconda Alyea

sagehrke commented 6 months ago

Dear @galyea123, 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

galyea123 commented 6 months ago

As an update, I found out that MONDO list "developmental and epileptic encephalopathy, 31" MONDO:0014598. However, this should be: "developmental and epileptic encephalopathy, 31A". You do list several synonyms but lack "Developmental and epileptic encephalopathy 31A, autosomal dominant" as per OMIM (also, as commented before, our report in NORD is entitled “DNM1-Encephalopathy and Neurodevelopmental Disorder” which should be included as a broad synonym for 31A and 31B subtypes (please see my original request on "Several issues". Thank you very much, Gioconda Alyea

sabrinatoro commented 1 month ago

It looks like some requests here were not addressed.

twhetzel commented 1 month ago

Related to the term merge request, I have a related ticket for these terms and confirmed that they should be merged (through my own research and from Gioconda) so I will do the merge as part of #7687.

sabrinatoro commented 2 weeks ago

Assigning to @twhetzel as it looks like she already worked on this.

yshwetar commented 2 weeks ago

Added Github tracker and NORD tag to 31A and 31B #8356