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Hi M. Cecile! I am requesting to add the condition "Beck-Fahrner syndrome". Please see OMIM 618798 and also a GR: https://www.ncbi.nlm.nih.gov/books/NBK591837/
Currently Orphanet does not list…
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### Version
- [X] I'm using version 1.15.1
### Known issues
- [X] I've checked Known issues
### Existing issues
- [X] I've checked Existing issues
### Advanced Preferences
- [X] I've checked Ad…
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Is there any location where i can find the H2190 musculoskeletal body?
I'm planning to use it and reference it in a reseach for scone usage and comparison with other simulation tools.
Can you help …
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EFO [Release v3.25.0](https://github.com/EBISPOT/efo/releases/tag/v3.25.0) contains the following OWL files:
- `efo-base.owl` 60.8 MB
- `efo.owl` 175 MB
- `efo_otar_profile.owl` 147 MB
- `efo_ot…
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Hi,
I need ZTTK syndrome for MGI as we have a mouse modeling this syndrome in https://pubmed.ncbi.nlm.nih.gov/38290089/.
Label: Zhu-Tokita-Takenouchi-Kim syndrome OR ZTTK syndrome
Definition: A s…
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ICD10:
* Minimum 4 characters is considered gold standard
* Number of 3 character codes are reported (but not considered incorrect)
* Number of 4 character codes are reported
* 2 character codes a…
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### Version
- [X] I'm using version 1.12.0
### Known issues
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### Existing issues
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### What operating system are you using?
macOS…
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### Version
- [X] I'm using version 1.15.1
### Known issues
- [X] I've checked Known issues
### Existing issues
- [X] I've checked Existing issues
### Advanced Preferences
- [X] I've checked Ad…
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Good day. With our fhir-pits, we are requesting, say, all Immunizations for a Patient, and we do get the Immunizations returned, but they are embedded in Encounters, along with things like Procedures…
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### Version
- [X] I'm using version 1.14.1
### Known issues
- [X] I've checked Known issues
### Existing issues
- [X] I've checked Existing issues
### Advanced Preferences
- [X] I've checked Ad…