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yshwetar
commented
Jun 13, 2025
yshwetar
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- New term
- Defintion
- Term Tracker
- ClinGen Synonym
- Logical Definition
- One OMIM child terms
- New term - Defintion - Term Tracker - ClinGen Synonym - Logical Definition - One OMIM child terms
sabrinatoro
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Jun 15, 2025
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sabrinatoro
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@yshwetar
This PR is perfect. Please add a comment about how the 1 child term is different from the parent term (since it is not obvious, and we might end up merging these terms later if we don't document why these are different.
| is_a: MONDO:1040067 {source="https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/", source="https://orcid.org/0000-0001-5935-2391"} ! PRPF4-related retinopathy | ||
| intersection_of: MONDO:0019200 ! retinitis pigmentosa | ||
| intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/17349 ! PRPF4 | ||
| relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql |
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Do you have evidence that this "excluded QC-single child" is correct? Please add a comment on this term (and/or on the parent term) to indicate how this term is different from the parent term.
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