Update disease_by_gene pattern #7277
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matentzn
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Feb 19, 2024
| series (OMIMPS), which are represented as grouping classes in Mondo. Notes about | ||
| the OMIMPS (see also OMIM_phenotypic_series.yaml): - every instance of the OMIMPS | ||
| series (OMIMPS), which are represented as grouping classes in Mondo, and (2) OMIA Mendelian diseases (https://omia.org/) which are defined by a variation in a gene. | ||
| Notes about the OMIMPS (see also OMIM_phenotypic_series.yaml): - every instance of the OMIMPS |
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Missing new line before the "every instance"?
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Address #7271
The pattern OMIM_disease_series_by_gene refers to the variable "disease" as "MONDO:0000001", which is the parent term of "human disease" and "non-human disease".
Therefore, this pattern could be used for both genetic diseases for human (from OMIM) and non-human animal (from OMIA).
I updated the existing description to reflect the above.
Note that I did not rename the pattern because it has been used "everywhere" in the ontology.
@matentzn @cmungall @katiermullen