Several issues #7641
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sabrinatoro
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New term request
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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 |
closes #7641 Addresses the following - New term 'developmental and epileptic encephalopathy, 31A' - Places both 31A and 31B under 31 - 31B excluded subclassof 'developmental and epileptic encephalopathy' - OMIM reference added for 31A - NORD rare subclass label added - Exact and broad synonyms added
closes #7641 Addresses the following - New term 'developmental and epileptic encephalopathy, 31A' - Places 31A under 31 - OMIM reference added - NORD rare subclass label added - Exact and broad synonyms added
Addresses #7641 - Updated names and synonyms to represent new medical understanding of DEE31 as DEE31A - Updated definitions for 31A and 31B from OMIM. Included my ORCID and OMIM as annotations - Included broad and exact synonyms, along with ORCID and OMIM annotations for these
* Update DEE31A and 31B Addresses #7641 - Updated names and synonyms to represent new medical understanding of DEE31 as DEE31A - Updated definitions for 31A and 31B from OMIM. Included my ORCID and OMIM as annotations - Included broad and exact synonyms, along with ORCID and OMIM annotations for these * Update definitons for 31A and 31B Replaced broad defintion for 31A. Changed definition for 31B to be of similar structure to 31A * Updated DEE31A and 31B definitions Changed definition to be for developmental and epileptic encephalopathies, and not early developmental and epileptic encephalopathies. Also added a comma to 31B naming * Removing letter capitalization Synonyms have letters capitalized - this was removed. * DEE31B lower case synonym Changed 'Disorder' to 'disorder' in synonym for 31B * add term tracker item --------- Co-authored-by: Nicole Vasilevsky <[email protected]>
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It looks like some requests here were not addressed. |
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Assigning to @twhetzel as it looks like she already worked on this. |
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Added Github tracker and NORD tag to 31A and 31B #8356 |
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
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