add new term mosaic SMO syndrome #7879
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@twhetzel There are a few things to change. Please let me know if you have questions.
src/ontology/mondo-edit.obo
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| xref: PMID:27236920 {source="https://clinicalgenome.org/affiliation/40059/"} | ||
| xref: PMID:30497210 {source="https://clinicalgenome.org/affiliation/40059/"} | ||
| xref: PMID:32413283 {source="https://clinicalgenome.org/affiliation/40059/"} | ||
| xref: PMID:7606318 {source="https://clinicalgenome.org/affiliation/40059/"} |
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the PMID x-ref should only be used as x-ref for definition and synonym.
x-ref annotations to terms should be for x-ref to database or ontology
src/ontology/mondo-edit.obo
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| xref: PMID:30497210 {source="https://clinicalgenome.org/affiliation/40059/"} | ||
| xref: PMID:32413283 {source="https://clinicalgenome.org/affiliation/40059/"} | ||
| xref: PMID:7606318 {source="https://clinicalgenome.org/affiliation/40059/"} | ||
| is_a: MONDO:0015160 {source="https://orcid.org/0000-0002-3458-4839"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome |
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Do you have any other source for this parent? If you made this parentage decision based on several internet searches, that's fine to add your orcid only, but it would be good to know how this parent was chosen (eg add the link to the google finds on the issue).
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I added this based on the disease description and PubMed references.
src/ontology/mondo-edit.obo
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| xref: PMID:32413283 {source="https://clinicalgenome.org/affiliation/40059/"} | ||
| xref: PMID:7606318 {source="https://clinicalgenome.org/affiliation/40059/"} | ||
| is_a: MONDO:0015160 {source="https://orcid.org/0000-0002-3458-4839"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome | ||
| relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11119 {source="https://clinicalgenome.org/affiliation/40059/"} ! SMO |
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According to the issue, the mutation is not "germline". Please use 'has material basis in somatic mutation in'
src/ontology/mondo-edit.obo
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| is_a: MONDO:0015160 {source="https://orcid.org/0000-0002-3458-4839"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome | ||
| relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11119 {source="https://clinicalgenome.org/affiliation/40059/"} ! SMO | ||
| property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-3458-4839 | ||
| property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/7879" xsd:string |
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this should be "xsd:anyURI" instead of "xsd:string"
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also updated to link to issue vs. PR
* Add non-human animal genetic diseases addresses issue #7271 -adds more non-human animal diseases from OMIA, -adds grouping terms where needed, -adds db-xrefs to previously added non-human animal genetic diseaes * update to fix QC violations Updated to fix QC violations. * update * update * update SCID in pigs Combine terms, remove gene associations, add definition. * addressed typos --------- Co-authored-by: Sabrina Toro <[email protected]>
* Update mondo-edit.obo * Add Mondo external content pipeline draft * Update mondo.Makefile * manual run of update-external-content make goal --------- Co-authored-by: Nico Matentzoglu <[email protected]>
* MONDO:0022900 athyreotic congenital hypothyroidism obsolete closes #7357 * update delete unnecessary line
* MONDO:0000424 inborn vitamin B12 deficiency [Merge] closes #7353 * update add single child exclusion * Update mondo-edit.obo
* add new term sycosis barbae fixes #8081 * added information required in Mondo --------- Co-authored-by: Sabrina Toro <[email protected]>
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Closing because too many conflicts. |
close #7768