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monarch-initiative / monarch-disease-ontology-RETIRED

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There should only be one Shizencephaly #98

Closed cmungall closed 8 years ago

cmungall commented 8 years ago

In the latest we have:

s

This may seem odd. Why didn't kboom merge this?

To see, why it's necessary to look at some of the oddities of MESH, see #97

MESH has two classes here:

ms

MEDIC votes for equivalence between the familial form and OMIM, so we end up with a trivial resolution:

img-omim_269160

The two disparate mesh terms are never reconciled.

My suspicion is these should be merged.

For example http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338922/pdf/aws019.pdf

never mentions a familial form

I suspect at some point MESH brought in OMIM and conservatively prefixed "Familial" for existing diseases, or something like that?

Note DO doesn't have this at all

cmungall commented 8 years ago

It looks like MESH is intertwining disease and phenotype quite horribly here, hard to disentangle?

Where should this paper be curated? In both disease and phenotype ontologies? http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338922/pdf/aws019.pdf