New term NDUFB11-related disorders #8374
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Addresses part of #8253 Their is no term for X-linked sideroblastic anemia with lactic acidosis
sabrinatoro
requested changes
Nov 13, 2024
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@yshwetar I think this issue requires more research
- it looks like many (maybe all) the suggested children added here are not 100% caused by a variation in NDUFB-11. So these shouldn't be children. (based on my very quick read)
- the definition of the new term can be updated to include the diseases reported.
Let me know if you need help with this.
src/ontology/mondo-edit.obo
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| [Term] | ||
| id: MONDO:1040023 | ||
| name: NDUFB11-related disorders | ||
| def: "A group of rare genetic conditions caused by variants in the NDUFB11 gene." [https://orcid.org/0000-0002-0587-4693, https://orcid.org/0000-001-9310-0163, PMID:25772934, PMID:25921236, PMID:26741492, PMID:27102574] |
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you can add more to this definition based on what is in the issue.
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Also you are right about the children - it seems the only child term that is present in all presentations is mitochondrial dysfunction.
sabrinatoro
approved these changes
Nov 14, 2024
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Addresses part of #8253
Their is no term for X-linked sideroblastic anemia with lactic acidosis