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closes #7826 - Definition - ORCIDs - PMID - Glaucoma CDWG link - Term tracker
sabrinatoro
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sabrinatoro
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@yshwetar
Please see change requests in the comments.
In addition, if there is an old PR that is not relevant anymore, please close it so it is clear that this one is the only relevant one.
Thank you.
| id: MONDO:1040090 | ||
| name: AFG3L2-related mitochondrial DNA depletion syndrome | ||
| def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a heterozygous variant or biallelic variants in the AFG3L2 gene." [https://clinicalgenome.org/affiliation/50053/, https://orcid.org/0000-0001-5935-2391, https://orcid.org/0000-0002-0587-4693, PMID:32219868] | ||
| comment: https://github.com/monarch-initiative/mondo/issues/7826 |
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This should not be a "comment", it is should a "term tracker" annotation.
| [Term] | ||
| id: MONDO:1040090 | ||
| name: AFG3L2-related mitochondrial DNA depletion syndrome | ||
| def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a heterozygous variant or biallelic variants in the AFG3L2 gene." [https://clinicalgenome.org/affiliation/50053/, https://orcid.org/0000-0001-5935-2391, https://orcid.org/0000-0002-0587-4693, PMID:32219868] |
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Based on the original request, I think it would be helpful to add something about the features observed (ie optic atrophy and/or ataxia)
| name: AFG3L2-related mitochondrial DNA depletion syndrome | ||
| def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a heterozygous variant or biallelic variants in the AFG3L2 gene." [https://clinicalgenome.org/affiliation/50053/, https://orcid.org/0000-0001-5935-2391, https://orcid.org/0000-0002-0587-4693, PMID:32219868] | ||
| comment: https://github.com/monarch-initiative/mondo/issues/7826 | ||
| is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-0587-4693"} ! hereditary disease |
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If the textual definition is "Any mitochondrial DNA depletion syndrome (...)" then one of the parent should be "mitochondrial DNA depletion syndrome"
Also, was it confirmed that the disease is indeed a mitochondrial disease? (I don't know that it has been).
And lastly, there should be another source than just an orcid. I guess adding the clingen wg would be good (because it means it is more than 1 person who said it is a hereditary disease.
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closes #7826