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I try to index https://github.com/mapsme/omim project.
To do that I create two soft symlinks:
```
$ ls -l ~/bin/rtags/clang
lrwxrwxrwx 1 evgeniy evgeniy 53 сен 22 00:33 /home/evgeniy/bin/rtags/clang …
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**My setup :**
Ubuntu 16.04 64bit
Java openjdk "1.8.0_131"
QMake version 3.0
Using Qt version 5.5.1 in /usr/lib/x86_64-linux-gnu
I followed all the steps in the Wiki, I have Android SDK, NDK, …
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Hi,
If I search for OMIM:612431 in https://www.ebi.ac.uk/ols/ontologies/efo, I can't retrieve any meaningful entry. But OMIM:612431 is indeed a database cross reference in EFO > Orphanet:90635. I h…
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Hi! I apologize for maybe not being using the right form for the request (currently in Brazil). I noticed that you have WARS2-related combined oxidative phosphorylation defect and neurodevelopmental…
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Mike - can we add the OMIM phenotypic series (OMIMPS) to the POET tool?
For example, OMIMPS:209900 'Bardet-Biedl syndrome'
cc @pnrobinson
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OMIM includes some common diseases and MONDO's import of these entries needs to be reviewed.
From the curation call notes on 19 May 22:
If OMIM has a locus for a common disease, it should be a di…
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**Mondo term (ID and Label)**
MONDO:0035433 Calpain-3-related limb-girdle muscular dystrophy D4
**Reason for deprecation**
Per Orphanet, this record is an exact match to OMIM [618129](https://omi…
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**Mondo term (ID and Label)**
MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
**Reason for deprecation**
ORDO term is exact match to OMIM 609296 see http://www…
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I want to output comment OMIM information for each column .
```shell
java -Xms2g -Xmx4g -jar exomiser-cli-12.1.0.jar --analysis examples/test-analysis-exome.yml
```
Currently results files comme…
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FYI - in Mondo we revised the definitions of Ehlers-Danlos Syndrome, Type I and II to match OMIM (https://omim.org/entry/130000) and (https://omim.org/entry/130010).
Type I is due to a dysfunction…