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Update disease_by_gene pattern #7277

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Update disease_by_gene pattern #7277

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7 changes: 4 additions & 3 deletions src/patterns/dosdp-patterns/OMIM_disease_series_by_gene.yaml
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Original file line number Diff line number Diff line change
Expand Up @@ -4,10 +4,10 @@ pattern_iri: http://purl.obolibrary.org/obo/mondo/patterns/disease_series_by_gen

description: '

This pattern is meant to be used for OMIM Mendelian diseases (ie unitary genetic diseases, as described in
This pattern is meant to be used for (1) OMIM Mendelian diseases (ie unitary genetic diseases, as described in
[PMID:33417889](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820621/)), including children of OMIM phenotypic
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"?

metaclass should be equivalent to (via annotated xref) to something in OMIMPS namespace
- the OMIMPS will never have an asserted causative gene as logical axiom (and no
single causative gene in text def) - the OMIMPS must never be equivalent to an OMIM:nnnnnn
Expand All @@ -23,6 +23,7 @@ description: '
contributors:
- https://orcid.org/0000-0002-6601-2165
- https://orcid.org/0000-0001-5208-3432
- https://orcid.org/0000-0002-4142-7153

classes:
disease: MONDO:0000001
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