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id: MONDO:0800145name: non-severe combined immunodeficiency due to polymerase delta deficiencydef: "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene."[PMID:31449058]subset: clingen {source="MONDO:CLINGEN"}subset: gard_rare {source="MONDO:GARD"}subset: rareis_a: MONDO:0018814 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! non-SCID combined immunodeficiencyrelationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0800145 {source="MONDO:CLINGEN"}relationship: RO:0002573 HP:0000007 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! has modifier Autosomal recessive inheritanceproperty_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5261" xsd:anyURI
This doesn't conform to a DP. We don't have a DP for disjunctions of genes.
It's important to conform to DPs because otherwise the ontology becomes too hard to manage. For example, we also have:
This is caused by POLD1 (why don't we have the edge linking to gene?)
What is the relationship between these two MONDO IDs? Right now they are unlinked, but they are clearly part of the same spectrum of deficiencies involving one or more parts of the POLD complex.
The text was updated successfully, but these errors were encountered:
We have a term that was added in #5261
This doesn't conform to a DP. We don't have a DP for disjunctions of genes.
It's important to conform to DPs because otherwise the ontology becomes too hard to manage. For example, we also have:
This is caused by POLD1 (why don't we have the edge linking to gene?)
What is the relationship between these two MONDO IDs? Right now they are unlinked, but they are clearly part of the same spectrum of deficiencies involving one or more parts of the POLD complex.
The text was updated successfully, but these errors were encountered: