New term Dyneinopathy #7894
New term Dyneinopathy #7894
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Closes #7652 Includes the following - Definition - 3 PMIDs for definition - 2 Parent classes - 2 Children classes
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Please see comments.
In addition to making the changes in the comments, you should also address the requester's ask related to " 'Spinal muscular atrophy, lower extremity-predominant 1, AD'"
For what I can tell from my quick review, we already have a term, MONDO:0008026 ('autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures'), which has and exact x-ref to OMIM:158600.
If it is what the term that the requester asked, it is already in Mondo** (note that we might have created this term after the request was created). In this case you should add this term as a child of "dyneinopathy". Remember to add sources! :-)
**in doubt, you can ask the requester to confirm that the MONDO:0008026 represents the term she requested.
- Removed first letter capitalization - Added ORCID, Clingen, OMIM, and PMID as respective annotations Did not yet address the addition of spinal muscular atrophy per the request of collaborator.
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@yshwetar
One detail: I think you can add a SubClassOf annotation :
'has material basis in germline mutation in' some DYNC1H1
Remember to add a source for this SC.
Also, check/confirm that it is the ID that you want to use for this term.
Other than that, it looks great! Thank you!
Previous MONDO ID was 1040000, which has been used in other commits. Updated this ID to 1040031. Also added the SubClassOf annotation: 'has material basis in germline mutation in' some DYNC1H1, along with sources for this.
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@yshwetar we should add the term tracker item to the new terms: See: https://mondo.readthedocs.io/en/latest/editors-guide/f-entities/#term-tracker-item Let me know if you need help with this (I did show this is a video in the ICBO tutorial yesterday) |
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@yshwetar please assign this back to me when it is ready for re-review, thanks! |
Minor updates to the definition of dyneinopathy. Removed ncbi search URL and placed PMID of genereviews. Also created a term tracker item.
Closes #7652
Includes the following