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we can use the phenotypic series from OMIM as some grouping classes. The phenoseries ids are part of the omim file, here:
http://nif-crawler.neuinfo.org/monarch/ttl/omim.ttl
see ticket here:
https:/…
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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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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…
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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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Add mappings between ORDO and DO.
see https://github.com/obophenotype/human-disease-ontology/issues/15
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We have 114 Orphanet IDs for which we have HP annotation, but the ID does not exist in the ORDO OWL export.
These appear to correspond to entries with no classification. E.g.
http://www.orpha.net/c…
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probably coming from omimclusters, which has its own pipeline for pulling in omim. We should swap in our version
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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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I don't understand what it means for mouse gene Sp7 to have a 100% similarity score to Melnick-Needles Syndrome, http://monarchinitiative.org/disease/OMIM_309350
especially when the top human hit is o…