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Dear all,
A Spanish geneticist has requested the creation of an specific ORPHAcode for "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN)", [OMIM 300990](https:…
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**Describe the bug**
HPO Phenotypes dataset collected by PIS from [here](https://github.com/opentargets/platform-input-support/blob/56960db050b273b92ed70d08b54e0552c067f43b/config.yaml#L12), contains…
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Dear Marta,
I am writing to request the inclusion of the disease Celia’s Encephalopathy in Orphanet, on behalf of the Spanish patient association [AELIP](https://www.aelip.es/), also related to the…
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## Overview
Our OMIM prefix and our OMIMPS URI prefix are no longer canonical. We would like to update them, but this is tricky, if / when we do this, it should be with care. Some prerequisite update…
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**Mondo term (ID and Label)**
MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes
**Reason for deprecation**
OMIM 242870 i…
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- [ ] Implement downloader
- [ ] Implement parser
- [ ] Implement loader
- [ ] Implement Web Services
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## Overview
There is an OMIM [release artefact](https://github.com/monarch-initiative/omim/releases) `mondo_genes.csv`. It needs to be changed into a ROBOT template.
## Sub-tasks
### I. `omim` @j…
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Hi, I have some confusion about the OMIM ontology you released here, and @matentzn suggested that I should raise a ticket. I used Protege to load the OMIM data, but the number of classes is 44729, far…
Lawhy updated
3 months ago
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From @vemonet via slack:
> Hi @Chris Bizon (SRI, Ranking Agent), we are trying to use the NodeNormalization to resolve IDs, but there seems to be a number of typos
Namely for DOID:14330 (Parkinson…
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i'm facing this issue while building the project using build_omim.sh -s in ubuntu 16 i got this
Makefile:83: recipe for target 'all' failed
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/home/mohammed/Desktop/omim/drape/o…