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It probably makes sense to make this repo standalone rather than a fork, as it currently is
can be done this way
https://help.github.com/articles/duplicating-a-repository/
But ideally we would prese…
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_From @mellybelly on March 14, 2015 21:53_
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)
…
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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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How is this coming along?
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http://www.rarechromo.org/html/DisorderGuides.asp
(may also have additional phenotypes for curation)
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We have:
```
/ DOID:4 ! disease
is_a DOID:0080015 ! physical disorder
is_a DOID:0050567 ! orofacial cleft
is_a DOID:674 ! cleft palate
is_a OMIM:119540 ! Cleft Palate ***
```
This is…
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For example see:
http://monarchinitiative.org/disease/OMIM_182290
http://monarchinitiative.org/disease/DECIPHER_8
Also see
https://decipher.sanger.ac.uk/syndrome/8#phenotype
for comparison. We have …
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We are missing some links here;
- blue = DO
- yellow = ORDO
- brown = OMIM
- grey = ME…