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I made a test comment and was able to save it, but now I am having issues again. :(
I tried to move one class (achoo syndrome to a child of syndrome) and it gave me an error when I tried to save, the…
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These are likely in the UMLS but we'll want them so as to associate drug-disease relationships.
@ShahimEssaid working on NDFRT but maybe can grab the disease graph and ensure we have those classes/xr…
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please add medgen ids to the uberdisease ontology for xrefs. these will be useful for linking with clinvar data.
http://www.ncbi.nlm.nih.gov/medgen/docs/faq/#rel
also found this possibly relevant:
f…
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Should we have a DC to cluster the two OMIMs (brown) here?
![screen shot 2015-03-12 at 11 29 38 pm](https://cloud.githubusercontent.com/assets/50745/6634053/b0ff1abc-c90f-11e4-94dd-03793523c31b.png)
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Something happened in the latest build and these became unmerged.
![sl](https://cloud.githubusercontent.com/assets/50745/7007053/120c247e-dc3b-11e4-8a9f-5f4a46926daa.png)
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As part of of the build we need to pull the definitions from DO, OMIM, and orphanet, with some order of priority. @nlwashington has built the OMIM and GeneReview text descriptions, these should be rel…
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there ought to be a grouping class for all ciliopathies.
http://en.wikipedia.org/wiki/Ciliopathy
i would think that [primary ciliary dyskinesia](http://tartini.crbs.ucsd.edu/disease/DOID:9562) would…
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i've been looking through our the ontology, i've found some issues.
many of the classes in the merged.obo are missing seemingly pedantic grouping classes.
for example,
id: OMIM:614480
name: Hypertr…
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We should manually curate groupings at the level above DC
See for example, subtypes of epilepsy, that should be under DOID:1826 ! epilepsy syndrome
![screen shot 2015-03-12 at 9 49 47 pm](https://cl…
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For example:
OMIM_107730 Apolipoprotein B; APOB
subclass of DO:disease and Orphanet_121386 (no label in file, but is a gene from Orphanet apolipoprotein B)
coming from MGI file I think, genes need to…