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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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MONDO:0005641 aleutian mink disease [Revise subclass] #6841

Closed kanems closed 5 months ago

kanems commented 11 months ago

Mondo term (ID and Label) MONDO:0005641 aleutian mink disease

Suggested revision and reasons This is not a human disease- should have a parent of MONDO:0005583 non-human animal disease MeSH does show this record as having some relationship in their hierarchies to a human disease, but I am pretty sure it's a tangential relationship (a parvovirus causes this disease, but minks with the Aleutian coat color and homozygous for the underlying lysosomal defect are particularly susceptible, much like humans with Chediak-Higashi are susceptible to infections and present with pigmentation variation)

https://www.ncbi.nlm.nih.gov/mesh/?term=D000453 vs. human Chediak-Higashi syndrome https://www.ncbi.nlm.nih.gov/mesh/68002609

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katiermullen commented 11 months ago

I think it makes sense for this disease to have a non-human animal disease parent, especially since the definition in Mondo refers to aspects of the disease as it occurs in the mink species.

There is one report of 2 cases of potential zoonotic transmission of AMDV to humans PMID:19961696. @nicolevasilevsky what is the best way to indicate this zoonotic potential in Mondo? And what level of evidence is needed to make this assertion?

nicolevasilevsky commented 11 months ago

these are good questions, @katiermullen. I'll add this to the curation call agenda.

Also, I don't think we properly model zoonotic infections in Mondo. See: https://github.com/monarch-initiative/mondo/issues/5898

katiermullen commented 5 months ago

@kanems @zoependlington We added the term MONDO:0005641 'aleutian mink disease' to the non-human animal disease branch. To reflect that aleutian mink disease can occur in humans, we added the term 'aleutian mink disease, human'. In some of the db-xrefs it is not clear if they are referring to the human or non-human animal disease so we have added these db-xrefs as MONDO:relatedTo instead of MONDO:equivalentTo. If these need to be revised based on information that you have, please let us know.

@zoependlington Please be advised that the human rare disease term for the OTAR subset is MONDO:1010029 'aleutian mink disease, human'

Thank you!