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Skeleton of docs for externally provided content #7520
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## Externally managed content | ||
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- [Overview](#overview) | ||
- [Synchronisation system](#sync) | ||
- [List of external content providers](#providers) | ||
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### Overview | ||
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In 2024, we have begun outsourcing a few select dataypes to trusted external providers. | ||
We collaborate with these providers as follows: | ||
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1. We agree on the content provided. | ||
1. The external provider provides the content in a table format that we can easily integrate (for example a ROBOT template TSV) | ||
1. We synchronize that content together with all other external content as part of the [Mondo Ingest pipeline](https://github.com/monarch-initiative/mondo-ingest) | ||
1. We periodically integrate the content into the Mondo ontology | ||
**Note**: The content is integrated into Mondo without a detailed curation review. | ||
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<a id="sync"></a> | ||
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### Synchronisation system | ||
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<a id="providers"></a> | ||
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### List of external content providers | ||
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**Providers**: | ||
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- [ClinGen](#clingen) | ||
- [MedGen](#medgen) | ||
- [NORD](#nord) | ||
- [GARD](#gard) | ||
- [Orphanet](#orphanet) | ||
- [Open Targets](#otar) | ||
- [Nando](#nando) | ||
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<a id="clingen"></a> | ||
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#### Clinical Genome Resource (ClinGen) | ||
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- ClinGen linkouts | ||
- ClinGen preferred names | ||
- ClinGen subset (terms used by ClinGen) | ||
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<a id="medgen"></a> | ||
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#### NCBI's Medical Genetics Portal (MedGen) | ||
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MedGen is NCBI's portal to information about conditions and phenotypes related to Medical Genetics. | ||
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- [Website](https://www.ncbi.nlm.nih.gov/medgen/) | ||
- Externally managed content: | ||
- Mondo - Medgen mappings | ||
- Mondo - UMLS mappings | ||
- Mondo - MESH mappings (currently on hold) | ||
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<a id="nord"></a> | ||
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#### National Organization for Rare Disorders (NORD) | ||
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- NORD rare subset (Mondo IDs deemed "rare" by NORD) | ||
- NORD preferred names (report names) | ||
- NORD cross-references | ||
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<a id="gard"></a> | ||
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#### Genetic and Rare Diseases (GARD) Information Center | ||
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- GARD rare subset | ||
- GARD cross-references | ||
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<a id="orphanet"></a> | ||
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#### Orphanet | ||
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- Subsets for `disorder`, `group of disorders`, `subtype of a disorder`. | ||
- Rare subset (based on `disorder` subset above) | ||
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<a id="otar"></a> | ||
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#### Open Targets (OTAR) | ||
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- Mondo - EFO mappings (managed by EBI) | ||
- Open Targets subset (terms used by Open Targets) | ||
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<a id="nando"></a> | ||
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#### NANDO | ||
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- Mondo - Nando mappings (managed by DBCLS) | ||
- Nando rare subset | ||
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#### OMIM | ||
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- Mondo - OMIM phenotype associations | ||
- | ||
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