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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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New term: arrhythmogenic biventricular cardiomyopathy #1280

Closed LaurensWilming closed 7 months ago

LaurensWilming commented 9 months ago

Name: arrhythmogenic biventricular cardiomyopathy. Synonym: biventricular ACM See J:342765: The homozygous mutant mice represent arrhythmogenic biventricular cardiomyopathy, while the heterozygotes represent arrhythmogenic right ventricular cardiomyopathy.

Also: add ACM as synonym to all existing arrhythmogenic cardiomyopathy terms.

Thanks, Laurens

allenbaron commented 8 months ago

Thanks for the request Laurens. We'll review it as soon as time permits.

allenbaron commented 7 months ago

Laurens, can you share the PubMed ID of the publication to be annotated at MGI?

LaurensWilming commented 7 months ago

Sorry, I keep forgetting to use PMID. PMID:36268721

allenbaron commented 7 months ago

The left ventricular and biventricular forms of ACM will be in the next release as DOID:0070534 & DOID:0070535. I've added appropriate ACM synonyms to each of these, as well as, the right ventricular disease.

I've opened a issue #1304 to deal with adding a parent of these diseases and for reviewing the different genetic subtypes which have not yet been modified, as it is likely some of those will not cleanly fit under one of these three diseases and the name of the parent term is not clear cut.

Thanks again.