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I'm encountering ICD-11 disease identifiers which are not normalizable currently. Is there any ongoing effort to create these mappings in Babel? I noticed that there is a makefile for MONDO ingest tha…
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Monarch graph has ingested HPOA (OMIM, Orphanet, MorbidMap, etc.) mappings but these have some subtle issues of precision and completeness, and appear generated from secondary data sources that have c…
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https://www.ebi.ac.uk/ols4/ontologies/ordo
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need to create a mapping of diagnoses. the desire would be for any disease needed here to be in MonDO. if you find it in another ontology (such as NCITh) that is not yet included in MONDO, please re…
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**Is your request related to a specific disease? Please describe.**
No
**Describe the proposed change(s)**
Use a typo detector tool to fix typos across repo
**References**
N/A
I used the…
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From: https://github.com/monarch-initiative/human-disease-ontology/issues/28
GO has the xref for MESH:D012216 ! Rheumatic Diseases under an obsolete class:
```
[Term]
id: DOID:4256
name: rheumatism
…
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Attached in the screenshot are the top hits for a single sample run through exomiser's phenotype only mode + pheval runner post processing.
- The top two hits (ORPHA:25 and OMIM: 231670) are actuall…
AO33 updated
3 months ago
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Hi CALIBER team,
This is less an issue and more of a feature request - I was just wondering if there were any plans to extend the metadata about each CALIBER phenotyping algorithms with ontology te…
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1. Fix the project setup https://github.com/monarch-initiative/monarch-mapping-commons/blob/main/projects/mondo-all.symbiont.yaml and run it.
2. It should contain the whole ontology and three differe…
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**Mondo term (ID and Label)**
Parkinson disease 13, autosomal dominant, susceptibility to (MONDO:0012466)
Any young-onset Parkinson disease in which the cause of the disease is a mutation in the H…