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The following axioms should be created/updated from OMIM:
'has material basis in germline mutation in' some GENE
- gene-to-disease information from OMIM, based on rules discussed HERE (need to be…
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@kevinschaper is the OMIM ingest done? How did we make the decision of using OMIM morbidmap vs medgen gene2disease?
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Dear all,
A Spanish coder requests the creation of an ORPHAcode for the **Shashi-Pena syndrome**, a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectu…
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IN the new version of normalization, there are about 25 identifiers that are not showing up in the final output for disease/phenotpyic feature.
```
DOID:0060320
DOID:0060321
DOID:0111946
DOID:1…
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OMIM links should be 'named' with MIM number and not the gene symbol, so the link on [http://exac.broadinstitute.org/gene/ENSG00000068078](http://exac.broadinstitute.org/gene/ENSG00000068078) to MIM e…
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## Overview
I was working in Python and looking at the entities that OAK queried for me. It returns a list of terms as CURIEs if the prefixes are available in the file, and otherwise shows the whole …
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This is not strictly in the domain of Mondo but Mondo is where most people see this - e.g. when browsing for genes associated with breast cancer on the monarch site
OMIM has an entry
https://omi…
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## Overview
From Ada: There are two big caveats for OMIM: Be concerned about (and likely exclude) null entries (those without a #, +, or % in front of them. There are some entries in OMIM that shoul…
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We need to make sure that OMIM is the authoritative source of ID mappings for omim genes. I think this will help to fix the issues where external sites will often link an omim disease with a gene.
t…
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**Term to split:**
MONDO:0008345 'idiopathic pulmonary fibrosis'
- [x] obsolete MONDO:0008345 'idiopathic pulmonary fibrosis'
- [x] add new OMIMPS:
[Term]
id: MONDO:0031199
name: inherited int…